uniprotkb_accession gene_name protein_name data_source dbsnp_id cosmic_id description evidence_ECO:0000269 evidence_ECO:0000313 cytogenic_band chromosome_id position ref_allele alt_allele ref_aa alt_aa begin_aa_pos end_aa_pos frequency mutation_type polyphen_score polyphen_prediction sift_score sift_prediction somatic_status disease disease_description disease_xrefs disease_evidence_ECO:0000269 disease_evidence_ECO:0000313 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534002869 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987062_987102 l null M null 1 1 initiator codon variant 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755969 P35475 IDUA Alpha-L-iduronidase gnomAD rs558683362 4p16.3 4 1000895 A null M ? 1 1 missense 0.959 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914740 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987087 A null M I 1 1 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673251 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914740 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987087 A null M I 1 1 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003323676 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914737 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987085 C null M L 1 1 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665207 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914737 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987085 C null M L 1 1 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001390269 P35475 IDUA Alpha-L-iduronidase dbSNP rs753767675 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987086 C null M T 1 1 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005047056 P35475 IDUA Alpha-L-iduronidase dbSNP rs753767675 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987086 C null M T 1 1 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000792346 P35475 IDUA Alpha-L-iduronidase dbSNP rs753767675 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987086 C null M T 1 1 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005047056 P35475 IDUA Alpha-L-iduronidase dbSNP rs753767675 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987086 C null M T 1 1 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005047056 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914737 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987085 G null M V 1 1 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001868850 P35475 IDUA Alpha-L-iduronidase dbSNP rs766603377 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987071_987094 l null MRPL null 1 4 initiator codon variant 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002626287 P35475 IDUA Alpha-L-iduronidase gnomAD rs1327366420 4p16.3 4 987089 A null R H 2 2 missense 0.0 unknown 0.1 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1327366420 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987089 C null R P 2 2 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002671967 P35475 IDUA Alpha-L-iduronidase gnomAD rs1407588987 4p16.3 4 987088 A null R S 2 2 missense 0.0 unknown 0.59 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs761444907 4p16.3 4 987091 G null P A 3 3 missense 0.0 unknown 0.46 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1333424959 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987092 A null P H 3 3 missense 0.0 unknown 0.17 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003053281 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs761444907 4p16.3 4 987091 A null P T 3 3 missense 0.0 unknown 0.36 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1042371669 4p16.3 4 987094 A null L M 4 4 missense 0.0 unknown 0.23 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs180984980 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987095 C null L P 4 4 0.000196232 missense 0.0 unknown 0.06 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002528855 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs180984980 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987095 C null L P 4 4 0.000196232 missense 0.0 unknown 0.06 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000631451 P35475 IDUA Alpha-L-iduronidase gnomAD rs112802149 4p16.3 4 987097 T null R C 5 5 missense 0.0 unknown 0.0 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs112802149 4p16.3 4 987097 G null R G 5 5 missense 0.0 unknown 0.16 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1352458557 4p16.3 4 987098 C null R P 5 5 missense 0.0 unknown 0.02 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs112802149 4p16.3 4 987097 A null R S 5 5 missense 0.0 unknown 0.05 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1257301694 4p16.3 4 987101 A null P H 6 6 missense 0.0 unknown 0.1 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1257301694 4p16.3 4 987101 G null P R 6 6 missense 0.0 unknown 0.23 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1713777803 4p16.3 4 987100 A null P T 6 6 missense 0.0 unknown 0.79 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003198 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987103 p null R null 7 7 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002866370 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs758122214 4p16.3 4 987103 T null R C 7 7 missense 0.0 unknown 0.18 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs758122214 4p16.3 4 987103 G null R G 7 7 missense 0.0 unknown 0.34 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1200035624 4p16.3 4 987104 A null R H 7 7 missense 0.0 unknown 0.54 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs758122214 4p16.3 4 987103 A null R S 7 7 missense 0.0 unknown 0.41 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1441549249 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987106 T null A S 8 8 missense 0.0 unknown 0.86 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001051985 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1441549249 4p16.3 4 987106 A null A T 8 8 missense 0.0 unknown 0.55 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1713779218 4p16.3 4 987107 T null A V 8 8 missense 0.0 unknown 0.42 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003263 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 987108 l null A null 9 9 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309234 P35475 IDUA Alpha-L-iduronidase gnomAD rs1369414449 4p16.3 4 987110 A null A E 9 9 missense 0.0 unknown 0.71 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1369414449 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987110 G null A G 9 9 missense 0.0 unknown 0.49 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001208509 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003285 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987109_987110delin T null A M 9 9 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003100172 P35475 IDUA Alpha-L-iduronidase 1000Genomes,gnomAD rs1169195503 4p16.3 4 987112 A null L M 10 10 missense 0.0 unknown 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1423609884 4p16.3 4 987115 A null L M 11 11 missense 0.0 unknown 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1423609884 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987115 G null L V 11 11 missense 0.0 unknown 0.36 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001890911 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003354 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987118_987130 l null A null 12 12 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV003237393 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1009685278 4p16.3 4 987119 A null A E 12 12 missense 0.0 unknown 0.36 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1009685278 4p16.3 4 987119 T null A V 12 12 missense 0.0 unknown 0.62 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1395681112 4p16.3 4 987121 T null L F 13 13 missense 0.0 unknown 0.24 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1395681112 4p16.3 4 987121 A null L I 13 13 missense 0.0 unknown 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003343 4p16.3 4 987120_987140 l null LLASLLA null 13 19 inframe deletion 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1342075215 4p16.3 4 987124 A null L M 14 14 missense 0.0 unknown 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003429 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 987126_987127 l null A null 15 15 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309635 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914754 [ClinVar]: Hurler syndrome 4p16.3 4 987118_987129 p null AS ALLA 15 16 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668487 P35475 IDUA Alpha-L-iduronidase dbSNP rs1284049920 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987120_987128 p null AS LLA 15 16 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002939061 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs886059749 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987128 T null A V 15 15 missense 0.0 unknown 0.54 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000403267 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 987130_987141 l null SLLA null 16 19 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001824122,ClinVar:RCV005031563 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 987130_987141 l null SLLA null 16 19 inframe deletion 0 IDUA-related disorder ClinVar:RCV003390774 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 987130_987141 l null SLLA null 16 19 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208599 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 987130_987141 l null SLLA null 16 19 inframe deletion 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005031563 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 987130_987141 l null SLLA null 16 19 inframe deletion 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV003338408,ClinVar:RCV005031563 P35475 IDUA Alpha-L-iduronidase 1000Genomes,dbSNP,gnomAD rs567921262 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987131 A null S * 16 16 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001945815 P35475 IDUA Alpha-L-iduronidase 1000Genomes,gnomAD rs567921262 4p16.3 4 987131 T null S L 16 16 missense 0.0 unknown 0.79 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1277306813 4p16.3 4 987130 C null S P 16 16 missense 0.0 unknown 0.24 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003478 4p16.3 4 987134_987145 l null LLAA null 17 20 inframe deletion 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs749763468 4p16.3 4 987133 T null L F 17 17 missense 0.0 unknown 0.17 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs749763468 4p16.3 4 987133 A null L I 17 17 missense 0.0 unknown 0.2 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726878 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:25256405 4p16.3 4 987137 C null L P 18 18 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000592086 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726878 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:25256405 4p16.3 4 987137 C null L P 18 18 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726878 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:25256405 4p16.3 4 987137 C null L P 18 18 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248919 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1260725493 4p16.3 4 987140 A null A D 19 19 missense 0.0 unknown 0.44 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1713786448 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987139 C null A P 19 19 missense 0.0 unknown 0.31 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001278326 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123260 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987130_987141 p null AA SLLA 19 20 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003085008 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1260725493 4p16.3 4 987140 T null A V 19 19 missense 0.0 unknown 0.61 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1200710862 4p16.3 4 987142 T null A S 20 20 missense 0.0 unknown 0.47 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1200710862 4p16.3 4 987142 A null A T 20 20 missense 0.0 unknown 0.4 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1713787159 [ClinVar]: Inborn genetic diseases 4p16.3 4 987143 T null A V 20 20 missense 0.0 unknown 0.6 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002357949 P35475 IDUA Alpha-L-iduronidase gnomAD rs1192006346 4p16.3 4 987146 A null P H 21 21 missense 0.0 unknown 0.33 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs778952883 4p16.3 4 987145 T null P S 21 21 missense 0.0 unknown 0.82 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003556 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987144_987145delin T null P S 21 21 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003090750 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs778952883 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987145 A null P T 21 21 missense 0.0 unknown 0.67 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005353100 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs778952883 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987145 A null P T 21 21 missense 0.0 unknown 0.67 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003095729 P35475 IDUA Alpha-L-iduronidase dbSNP rs1560531755 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987149 l null P null 22 22 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001194420 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914762 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987144_987145deli A null P null 22 22 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669455 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914762 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987144_987145deli A null P null 22 22 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001192506 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1001972534 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987148 G null P A 22 22 missense 0.0 unknown 0.78 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002357082 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1001972534 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987148 G null P A 22 22 missense 0.0 unknown 0.78 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001296491 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs745879759 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987149 T null P L 22 22 missense 0.0 unknown 0.36 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005582446 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs745879759 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987149 T null P L 22 22 missense 0.0 unknown 0.36 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000815368 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs745879759 4p16.3 4 987149 A null P Q 22 22 missense 0.0 unknown 0.6 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1001972534 [ClinVar]: Hurler syndrome 4p16.3 4 987148 T null P S 22 22 missense 0.0 unknown 0.76 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668397 P35475 IDUA Alpha-L-iduronidase gnomAD rs1383976462 4p16.3 4 987152 G null V G 23 23 missense 0.0 unknown 0.42 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1713789241 4p16.3 4 987151 C null V L 23 23 missense 0.0 unknown 0.52 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1459786307 [ClinVar]: Inborn genetic diseases 4p16.3 4 1000959 G null L V 23 23 missense 0.963 probably damaging 0.0 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004985374 P35475 IDUA Alpha-L-iduronidase gnomAD rs1173380226 4p16.3 4 987154 A null A T 24 24 missense 0.0 unknown 0.69 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553914780 [ClinVar]: Hurler syndrome 4p16.3 4 987153_987161 l null APA null 24 26 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667336 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs775731864 4p16.3 4 987157 G null P A 25 25 missense 0.0 unknown 0.92 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1173398291 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987158 T null P L 25 25 missense 0.0 unknown 0.55 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003071248 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs775731864 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987157 T null P S 25 25 missense 0.0 unknown 0.89 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001316608 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs775731864 4p16.3 4 987157 A null P T 25 25 missense 0.0 unknown 0.69 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs746809894 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987160 A null A T 26 26 missense 0.0 unknown 0.23 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000884800 P35475 IDUA Alpha-L-iduronidase gnomAD rs1418061643 4p16.3 4 987161 T null A V 26 26 missense 0.0 unknown 0.38 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1297418198 4p16.3 4 987163 T null E * 27 27 stop gained 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1340836734 4p16.3 4 987165 T null E D 27 27 missense 0.0 unknown 0.5 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153015206 4p16.3 4 987164 G null E G 27 27 missense 0.0 unknown 0.4 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1401773571 4p16.3 4 987166 T null A S 28 28 missense 0.0 unknown 0.66 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs768462916 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987170 G null P R 29 29 missense 0.0 unknown 0.08 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003085283 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs768462916 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987170 G null P R 29 29 missense 0.0 unknown 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003075118 P35475 IDUA Alpha-L-iduronidase dbSNP rs1193085446 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987171 l null H null 30 30 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001385791 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs553425887 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987174 G null H Q 30 30 0.000196232 missense 0.0 unknown 0.07 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002484713 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs553425887 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987174 G null H Q 30 30 0.000196232 missense 0.0 unknown 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001936986 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs553425887 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987174 G null H Q 30 30 0.000196232 missense 0.0 unknown 0.07 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002484713 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs553425887 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 987174 G null H Q 30 30 0.000196232 missense 0.0 unknown 0.07 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002484713 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs896790485 4p16.3 4 987172 T null H Y 30 30 missense 0.0 unknown 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs566741452 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987178 T null V L 32 32 missense 0.503 possibly damaging 0.1 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002039053 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534003798 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987182_987183insGGTGGACGGT A null H null 33 33 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002862815 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs10794537 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:1362562,pubmed:1505961,pubmed:19396826,pubmed:1946389,pubmed:21394825 4p16.3 4 987183 A null H Q 33 33 missense 0.0 benign 0.61 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001544423 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs10794537 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:1362562,pubmed:1505961,pubmed:19396826,pubmed:1946389,pubmed:21394825 4p16.3 4 987183 A null H Q 33 33 missense 0.0 benign 0.61 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001544424 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs10794537 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:1362562,pubmed:1505961,pubmed:19396826,pubmed:1946389,pubmed:21394825 4p16.3 4 987183 A null H Q 33 33 missense 0.0 benign 0.61 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV001544425 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs10794537 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:1362562,pubmed:1505961,pubmed:19396826,pubmed:1946389,pubmed:21394825 4p16.3 4 987183 A null H Q 33 33 missense 0.0 benign 0.61 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000337407,ClinVar:RCV003044929 P35475 IDUA Alpha-L-iduronidase gnomAD rs1285765100 4p16.3 4 987182 G null H R 33 33 missense 0.0 benign 0.62 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1215423044 4p16.3 4 987181 T null H Y 33 33 missense 0.0 benign 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1713794298 4p16.3 4 987184 C null V L 34 34 missense 0.878 possibly damaging 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1713794298 4p16.3 4 1001471 T null V M 34 34 missense 0.993 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715067539 4p16.3 4 1001474 G null Y C 35 35 missense 0.999 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153015219 4p16.3 4 987188 G null D G 35 35 missense 0.988 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1416906351 4p16.3 4 1001473 C null Y H 35 35 missense 0.998 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase Ensembl rs886059750 4p16.3 4 987187 C null D H 35 35 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs886059750 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987187 A null D N 35 35 missense 0.844 possibly damaging 0.21 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005582306 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs886059750 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987187 A null D N 35 35 missense 0.844 possibly damaging 0.21 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000402420 P35475 IDUA Alpha-L-iduronidase gnomAD rs1265825078 4p16.3 4 987191 A null A E 36 36 missense 0.977 probably damaging 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1196501238 4p16.3 4 987190 A null A T 36 36 missense 0.948 probably damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1379438809 4p16.3 4 987194 A null A D 37 37 missense 0.007 benign 0.51 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1199722295 4p16.3 4 987193 A null A T 37 37 missense 0.012 benign 0.41 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1379438809 4p16.3 4 987194 T null A V 37 37 missense 0.19 benign 0.19 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950667822 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987196 T null R C 38 38 missense 0.944 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002497809 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950667822 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987196 T null R C 38 38 missense 0.944 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004616902 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950667822 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987196 T null R C 38 38 missense 0.944 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001957837 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950667822 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987196 T null R C 38 38 missense 0.944 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002497809 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950667822 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987196 T null R C 38 38 missense 0.944 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002497809 P35475 IDUA Alpha-L-iduronidase gnomAD rs985077475 4p16.3 4 987197 A null R H 38 38 missense 0.063 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs985077475 [ClinVar]: Inborn genetic diseases 4p16.3 4 987197 T null R L 38 38 missense 0.64 possibly damaging 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003199302 P35475 IDUA Alpha-L-iduronidase dbSNP rs950667822 4p16.3 4 987196 A null R S 38 38 missense 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1387276644 4p16.3 4 987203 C null L P 40 40 missense 0.881 possibly damaging 0.23 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1219417104 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987207 A null W * 41 41 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003593295 P35475 IDUA Alpha-L-iduronidase 1000Genomes,gnomAD rs1302843483 4p16.3 4 987205 C null W R 41 41 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs990985276 4p16.3 4 987208 T null P S 42 42 missense 0.539 possibly damaging 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs990985276 4p16.3 4 987208 A null P T 42 42 missense 0.711 possibly damaging 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes rs558851990 4p16.3 4 987214 G null R G 44 44 missense 0.2 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1336975176 4p16.3 4 987215 C null R P 44 44 missense 0.776 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1336975176 4p16.3 4 987215 A null R Q 44 44 missense 0.35 benign 0.34 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153015244 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987216 l null R null 45 45 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001972549 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015247 [ClinVar]: Inborn genetic diseases 4p16.3 4 987217 T null R C 45 45 missense 0.747 possibly damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004634229 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1448806369 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987218 C null R P 45 45 missense 0.001 benign 0.21 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001910259 P35475 IDUA Alpha-L-iduronidase gnomAD rs1239326698 4p16.3 4 987224 A null W * 47 47 stop gained 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1713799895 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987225 A null W * 47 47 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001207363 P35475 IDUA Alpha-L-iduronidase dbSNP rs1713799705 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987225GAG ] null R null 48 48 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002041235 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015259 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987226 G null R G 48 48 missense 0.852 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002022037 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1309472813 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987227 A null R K 48 48 missense 0.098 benign 0.44 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003081146 P35475 IDUA Alpha-L-iduronidase gnomAD rs1309472813 4p16.3 4 987227 T null R M 48 48 missense 0.975 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1025057731 [ClinVar]: Inborn genetic diseases 4p16.3 4 987228 C null R S 48 48 missense 0.751 possibly damaging 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002394571,ClinVar:RCV002892270 P35475 IDUA Alpha-L-iduronidase TOPMed rs1713800534 4p16.3 4 987230 C null S T 49 49 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1713800692 4p16.3 4 987233 T null T I 50 50 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726877 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7951228 4p16.3 4 987236 A null G D 51 51 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000173082,ClinVar:RCV002505243 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726877 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7951228 4p16.3 4 987236 A null G D 51 51 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726877 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7951228 4p16.3 4 987236 A null G D 51 51 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208594 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726877 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7951228 4p16.3 4 987236 A null G D 51 51 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002505243 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794726877 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7951228 4p16.3 4 987236 A null G D 51 51 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002505243 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1464018673 4p16.3 4 987235 A null G S 51 51 missense 1.0 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1421520718 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 987240 G null F L 52 52 missense 0.531 possibly damaging 0.09 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669885,ClinVar:RCV002507168 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1421520718 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 987240 G null F L 52 52 missense 0.531 possibly damaging 0.09 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002507168 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1421520718 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 987240 G null F L 52 52 missense 0.531 possibly damaging 0.09 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002507168 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758190824 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987809 A null C * 53 53 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001975064 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1713801432 4p16.3 4 987241 C null C R 53 53 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534004148 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987242 C null C S 53 53 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755048 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs758190824 4p16.3 4 987809 G null C W 53 53 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015595 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987811 T null P L 54 54 missense 0.989 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001993616 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs768389832 4p16.3 4 987810 T null P S 54 54 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503966 4p16.3 4 987814 l null P null 55 55 frameshift 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs776561903 4p16.3 4 987813 G null P A 55 55 missense 0.909 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199554923 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 987814 T null P L 55 55 missense 0.994 probably damaging 0.0 deleterious 0 IDUA-related disorder ClinVar:RCV004751937 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199554923 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 987814 T null P L 55 55 missense 0.994 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002564075 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199554923 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 987814 T null P L 55 55 missense 0.994 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001243859 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,gnomAD rs199554923 4p16.3 4 987814 A null P Q 55 55 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs776561903 4p16.3 4 987813 T null P S 55 55 missense 0.992 probably damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153015607 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 987815 l null L null 56 56 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV004691440 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503966 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987814 p null L null 56 56 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005036361 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503966 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987814 p null L null 56 56 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001060767 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503966 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987814 p null L null 56 56 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005036361 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503966 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987814 p null L null 56 56 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005036361 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015609 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987817 C null L P 56 56 missense 0.984 probably damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001959666 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534007813 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987825 l null S null 59 59 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003811902 P35475 IDUA Alpha-L-iduronidase Ensembl rs1343172437 4p16.3 4 987825 G null S G 59 59 missense 0.007 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs746908649 4p16.3 4 1001545 A null V I 59 59 missense 0.224 benign 0.16 tolerated 1 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1577508801 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987828 T null Q * 60 60 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000811149 P35475 IDUA Alpha-L-iduronidase dbSNP rs773238336 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987829 C null Q P 60 60 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002295678 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs773238336 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987829 G null Q R 60 60 missense 0.001 benign 0.4 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003340627 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs773238336 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987829 G null Q R 60 60 missense 0.001 benign 0.4 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003090271 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015621 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987837 T null Q * 63 63 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003238366 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153015621 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987837 T null Q * 63 63 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001390270 P35475 IDUA Alpha-L-iduronidase dbSNP rs794727240 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987841_987842 l null Y null 64 64 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000175553 P35475 IDUA Alpha-L-iduronidase dbSNP rs794727240 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987841_987842 l null Y null 64 64 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001249025 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965022 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:6821579,pubmed:8328452,pubmed:8477267 4p16.3 4 987842 A null Y * 64 64 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012689 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965022 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:6821579,pubmed:8328452,pubmed:8477267 4p16.3 4 987842 A null Y * 64 64 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001851807 P35475 IDUA Alpha-L-iduronidase TOPMed rs1413070721 4p16.3 4 987844 G null V G 65 65 missense 0.145 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762406262 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987843 A null V I 65 65 missense 0.145 benign 0.14 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005584950 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762406262 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987843 A null V I 65 65 missense 0.145 benign 0.14 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001911576 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765883088 4p16.3 4 987846 T null L F 66 66 missense 0.998 probably damaging 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765883088 4p16.3 4 987846 G null L V 66 66 missense 0.994 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370442463 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987849 T null S C 67 67 0.000196232 missense 0.979 probably damaging 0.01 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668547 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370442463 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987849 T null S C 67 67 0.000196232 missense 0.979 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001156295 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs370442463 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987849 G null S G 67 67 0.000196232 missense 0.11 benign 0.11 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001950072 P35475 IDUA Alpha-L-iduronidase Ensembl rs1474234169 4p16.3 4 987851 G null S R 67 67 missense 0.958 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1194221175 4p16.3 4 987854 A null W * 68 68 stop gained 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs754212720 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987853 A null W * 68 68 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003593296 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs763375487 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001689 G null N K 68 68 missense 0.868 possibly damaging 0.03 deleterious 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002507611 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs763375487 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001689 G null N K 68 68 missense 0.868 possibly damaging 0.03 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001948373 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs763375487 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001689 G null N K 68 68 missense 0.868 possibly damaging 0.03 deleterious 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002507611 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs763375487 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001689 G null N K 68 68 missense 0.868 possibly damaging 0.03 deleterious 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002507611 P35475 IDUA Alpha-L-iduronidase TOPMed rs906783102 4p16.3 4 987857 G null D E 69 69 missense 1.0 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153015644 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987859 l null Q null 70 70 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001383254 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012684,ClinVar:RCV000763532 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 IDUA-related disorder ClinVar:RCV003390671 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 Mucopolysaccharidosis MIM:PS607014 ClinVar:RCV003488336 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000276574 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000185562,ClinVar:RCV000763532 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965020 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1505961 4p16.3 4 987858 T null Q * 70 70 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV000185563,ClinVar:RCV000763532 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1577508778 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987820_987859 p null Q H 70 70 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000791473 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021978 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001697 G null D G 71 71 missense 0.994 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002028654 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs765763734 4p16.3 4 987864 T null L F 72 72 missense 0.374 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs765763734 4p16.3 4 987864 G null L V 72 72 missense 0.374 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1240696427 4p16.3 4 987868 G null N S 73 73 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1240696427 4p16.3 4 987868 C null N T 73 73 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs758452450 4p16.3 4 987873 C null A P 75 75 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758452450 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228,pubmed:8019563 4p16.3 4 987873 A null A T 75 75 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670756 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758452450 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228,pubmed:8019563 4p16.3 4 987873 A null A T 75 75 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758452450 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228,pubmed:8019563 4p16.3 4 987873 A null A T 75 75 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208613 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1315260083 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987874 T null A V 75 75 missense 0.958 probably damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001956964 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780165694 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 987877 G null Y C 76 76 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667992,ClinVar:RCV005034247 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780165694 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 987877 G null Y C 76 76 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780165694 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 987877 G null Y C 76 76 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002532065 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780165694 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 987877 G null Y C 76 76 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034247 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780165694 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 987877 G null Y C 76 76 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034247 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1560532674 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987880 C null V A 77 77 missense 0.53 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001905230 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs751792135 4p16.3 4 987883 C null G A 78 78 missense 0.854 possibly damaging 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs992408218 4p16.3 4 1001717 T null R C 78 78 missense 0.969 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs751792135 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987883 A null G D 78 78 missense 0.99 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001299255 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1053047352 4p16.3 4 987882 A null G S 78 78 missense 0.782 possibly damaging 0.26 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs58037052 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Calcium oxalate urolithiasis, [ClinVar]: Hurler syndrome 4p16.3 4 987885 A null A T 79 79 0.0100078 missense 0.583 possibly damaging 0.02 deleterious 0 Calcium oxalate urolithiasis MIM:PS167030 ClinVar:RCV002500480 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs58037052 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Calcium oxalate urolithiasis, [ClinVar]: Hurler syndrome 4p16.3 4 987885 A null A T 79 79 0.0100078 missense 0.583 possibly damaging 0.02 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674553 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs58037052 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Calcium oxalate urolithiasis, [ClinVar]: Hurler syndrome 4p16.3 4 987885 A null A T 79 79 0.0100078 missense 0.583 possibly damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000708549 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs747981483 [UniProt]: MPS1H/S; reduction of activity and protein levels, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:15300847 4p16.3 4 987886 T null A V 79 79 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs747981483 [UniProt]: MPS1H/S; reduction of activity and protein levels, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:15300847 4p16.3 4 987886 T null A V 79 79 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001956540 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1283637061 [ClinVar]: IDUA-related disorder 4p16.3 4 987889 C null V A 80 80 missense 0.826 possibly damaging 0.01 deleterious 0 IDUA-related disorder ClinVar:RCV003393228 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs749227148 [ClinVar]: Inborn genetic diseases 4p16.3 4 987888 A null V I 80 80 missense 0.202 benign 0.09 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002456534 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs773908263 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987891 T null P S 81 81 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002572396 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs773908263 4p16.3 4 987891 A null P T 81 81 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1713866822 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987892 p null H null 82 82 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001231643 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs794727239 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:8401515 4p16.3 4 987895 C null H P 82 82 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000664739 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs794727239 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:8401515 4p16.3 4 987895 C null H P 82 82 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs794727239 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:8401515 4p16.3 4 987895 C null H P 82 82 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000779453 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148775298 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: reduction of protein levels, [ClinVar]: Hurler syndrome pubmed:15300847 4p16.3 4 987896 G null H Q 82 82 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000664463 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148775298 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: reduction of protein levels, [ClinVar]: Hurler syndrome pubmed:15300847 4p16.3 4 987896 G null H Q 82 82 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002453397 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148775298 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: reduction of protein levels, [ClinVar]: Hurler syndrome pubmed:15300847 4p16.3 4 987896 G null H Q 82 82 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208604 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs771733089 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987897 T null R C 83 83 missense 0.747 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001041087 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs771733089 4p16.3 4 987897 G null R G 83 83 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs141461803 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 987898 A null R H 83 83 missense 0.025 benign 0.1 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000371057 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs141461803 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 987898 A null R H 83 83 missense 0.025 benign 0.1 tolerated 0 Squamous Cell Neoplasms From tissue: Floor of mouth, NOS P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1359058958 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987901 C null G A 84 84 missense 1.0 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651786 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs564306004 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987900 A null G S 84 84 missense 1.0 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001265723 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs564306004 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987900 A null G S 84 84 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000900715 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1359058958 4p16.3 4 987901 T null G V 84 84 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1178237301 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001738 T null R W 85 85 missense 0.937 probably damaging 0.01 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001053093 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534008343 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 987906 T null K * 86 86 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002310028 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs763508634 4p16.3 4 987907 G null K R 86 86 missense 0.039 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs916372360 4p16.3 4 987909 T null Q * 87 87 stop gained 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1274398298 4p16.3 4 987913 C null V A 88 88 missense 0.976 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs751676744 4p16.3 4 987912 T null V F 88 88 missense 0.993 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs754966840 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987915 G null R G 89 89 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755737 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs121965029 4p16.3 4 987916 C null R P 89 89 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Fibromatous Neoplasms From tissue: Connective, subcutaneous and other soft tissues of lower limb and hip P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000169784,ClinVar:RCV005042034 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208598 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012697,ClinVar:RCV005042034 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965029 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:12559846,pubmed:8213840 pubmed:8213840,pubmed:8664897 4p16.3 4 987916 A null R Q 89 89 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005042034 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754966840 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550242 4p16.3 4 987915 T null R W 89 89 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002485752 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754966840 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550242 4p16.3 4 987915 T null R W 89 89 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754966840 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550242 4p16.3 4 987915 T null R W 89 89 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000703774 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754966840 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550242 4p16.3 4 987915 T null R W 89 89 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002485752 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754966840 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550242 4p16.3 4 987915 T null R W 89 89 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002485752 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534008454 4p16.3 4 987918 G null T A 90 90 missense 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534008465 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987919 T null T I 90 90 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003106642 P35475 IDUA Alpha-L-iduronidase gnomAD rs1353232878 4p16.3 4 987925 A null W * 92 92 stop gained 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153015695 4p16.3 4 987931 C null L P 94 94 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1258131965 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 987933 A null E K 95 95 missense 0.528 possibly damaging 0.01 deleterious 0 Squamous Cell Neoplasms From tissue: Overlapping lesion of lip, oral cavity and pharynx P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1713872403 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987937 G null L R 96 96 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001315713 P35475 IDUA Alpha-L-iduronidase Ensembl rs1713872599 4p16.3 4 987939 T null V F 97 97 missense 0.883 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs760900176 4p16.3 4 1001775 T null P L 97 97 missense 0.49 possibly damaging 0.02 deleterious 1 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs147490060 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 987946 T null T I 99 99 0.0060832 missense 0.003 benign 0.21 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001082638 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201345740 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 987948 G null R G 100 100 missense 0.026 benign 0.08 tolerated 0 IDUA-related disorder ClinVar:RCV003403968 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs201345740 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 987948 G null R G 100 100 missense 0.026 benign 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002952549 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs777698606 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987949 A null R K 100 100 missense 0.376 benign 0.3 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670067 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs777698606 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 987949 A null R K 100 100 missense 0.376 benign 0.3 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005090334 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1340970137 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000612 T null R S 100 100 missense 0.08 benign 0.41 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001915458 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,gnomAD rs544130587 4p16.3 4 1000614 A null G E 101 101 0.000196232 missense 0.003 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021609 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000613 A null G R 101 101 missense 0.025 benign 0.66 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001930764 P35475 IDUA Alpha-L-iduronidase dbSNP rs1461124319 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000618 l null T null 103 103 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001236736 P35475 IDUA Alpha-L-iduronidase Ensembl rs1004730853 4p16.3 4 1000619 G null T A 103 103 missense 0.0 benign 0.97 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs368625868 4p16.3 4 1000623 C null G A 104 104 missense 0.133 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1560545594 4p16.3 4 1000622 A null G R 104 104 missense 0.933 probably damaging 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3755955 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000626 C null R P 105 105 missense 0.155 benign 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003090689 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3755955 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1000626 A null R Q 105 105 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001543713 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3755955 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1000626 A null R Q 105 105 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000289071 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3755955 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1000626 A null R Q 105 105 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001543714 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs3755955 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1000626 A null R Q 105 105 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV001543715 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs779553529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000625 T null R W 105 105 missense 0.003 benign 0.11 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004071827 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs779553529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000625 T null R W 105 105 missense 0.003 benign 0.11 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003077856 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs779553529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000625 T null R W 105 105 missense 0.003 benign 0.11 tolerated 0 Squamous Cell Neoplasms From tissue: Head, face or neck, NOS P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,gnomAD rs574025652 4p16.3 4 1000628 T null G C 106 106 missense 0.946 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs574025652 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000628 C null G R 106 106 missense 0.108 benign 0.21 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003063112 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs574025652 [ClinVar]: Inborn genetic diseases 4p16.3 4 1000628 A null G S 106 106 missense 0.13 benign 0.34 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002322620 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715015091 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000634 T null S C 108 108 missense 0.86 possibly damaging 0.06 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001054877 P35475 IDUA Alpha-L-iduronidase gnomAD rs1304587706 4p16.3 4 1000636 G null S R 108 108 missense 0.003 benign 0.56 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1470115977 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1000638_1000643 l null YN null 109 110 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004784094 P35475 IDUA Alpha-L-iduronidase dbSNP rs1470115977 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1000638_1000643 l null YN null 109 110 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003051157 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715097037 4p16.3 4 1001811 A null C Y 109 109 missense 1.0 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase gnomAD rs1381177005 4p16.3 4 1000643 C null F L 111 111 missense 0.055 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1452063753 4p16.3 4 1000647 T null T I 112 112 missense 0.981 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1370975987 4p16.3 4 1000650 G null H R 113 113 missense 0.017 benign 0.19 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1295618090 4p16.3 4 1000649 T null H Y 113 113 missense 0.01 benign 0.77 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372934646 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000652 A null L M 114 114 missense 0.996 probably damaging 0.01 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002506879 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372934646 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000652 A null L M 114 114 missense 0.996 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002047116 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372934646 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000652 A null L M 114 114 missense 0.996 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002506879 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372934646 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000652 A null L M 114 114 missense 0.996 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002506879 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs775542391 4p16.3 4 1000653 G null L R 114 114 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs372934646 4p16.3 4 1000652 G null L V 114 114 missense 0.889 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534077444 [ClinVar]: Inborn genetic diseases 4p16.3 4 1000659 A null G E 116 116 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002776846 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs148946496 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000658 A null G R 116 116 0.00235479 missense 0.003 benign 0.43 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001456687,ClinVar:RCV000884870 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs148946496 4p16.3 4 1000658 T null G W 116 116 0.00235479 missense 0.901 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153021628 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000661 l null Y null 117 117 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002007160 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534077519 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1000667 l null D null 119 119 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309301 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs537047205 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000668 C null D A 119 119 missense 0.888 possibly damaging 0.06 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002633704 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs765255638 4p16.3 4 1000667 A null D N 119 119 missense 0.961 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs765255638 4p16.3 4 1000667 T null D Y 119 119 missense 0.986 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1364783425 4p16.3 4 1000670 T null L F 120 120 missense 0.686 possibly damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1364783425 4p16.3 4 1000670 G null L V 120 120 missense 0.889 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021634 [ClinVar]: Hurler syndrome 4p16.3 4 1000674 C null L P 121 121 missense 0.992 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001843996 P35475 IDUA Alpha-L-iduronidase gnomAD rs1478823572 4p16.3 4 1000676 G null R G 122 122 missense 0.297 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200237798 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000677 A null R K 122 122 missense 0.179 benign 0.16 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000391892 P35475 IDUA Alpha-L-iduronidase dbSNP rs577729544 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000679 T null E * 123 123 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003879814 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs577729544 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000679 A null E K 123 123 0.00137363 missense 0.015 benign 0.34 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000290331 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534077620 [ClinVar]: Hurler syndrome 4p16.3 4 1000685 T null Q * 125 125 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003338925 P35475 IDUA Alpha-L-iduronidase TOPMed rs1331974797 4p16.3 4 1000687 C null Q H 125 125 missense 0.881 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs754674352 4p16.3 4 1000694 G null P A 128 128 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs754674352 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000694 T null P S 128 128 missense 0.993 probably damaging 0.0 deleterious 0 Adenomas and Adenocarcinomas From tissue: Uterus, NOS P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs746311088 4p16.3 4 1000882 C null G A 129 129 missense 0.975 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1560545883 [ClinVar]: Hurler syndrome 4p16.3 4 1000886 l null F null 130 130 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000761241 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715030899 4p16.3 4 1000889 C null E D 131 131 missense 1.0 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs990612149 4p16.3 4 1001877 A null R K 131 131 missense 0.001 benign 1.0 tolerated 1 P35475 IDUA Alpha-L-iduronidase gnomAD rs1231384417 4p16.3 4 1000887 C null E Q 131 131 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs558683362 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1000895 C null M I 133 133 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667481 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs558683362 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1000895 C null M I 133 133 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs558683362 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1000895 C null M I 133 133 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591768 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs780212412 4p16.3 4 1000893 C null M L 133 133 missense 0.594 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs774605197 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1000894_1000899 l null MG null 133 134 initiator codon variant 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001374702,ClinVar:RCV002497481 P35475 IDUA Alpha-L-iduronidase dbSNP rs774605197 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1000894_1000899 l null MG null 133 134 initiator codon variant 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001070890 P35475 IDUA Alpha-L-iduronidase dbSNP rs774605197 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1000894_1000899 l null MG null 133 134 initiator codon variant 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002497481 P35475 IDUA Alpha-L-iduronidase dbSNP rs774605197 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1000894_1000899 l null MG null 133 134 initiator codon variant 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002497481 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1278153200 4p16.3 4 1000896 T null G C 134 134 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534079094 [ClinVar]: IDUA-related disorder 4p16.3 4 1000899 p null S null 135 135 frameshift 0 IDUA-related disorder ClinVar:RCV003914095 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153021702 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000899 l null S null 135 135 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001942241 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs112571714 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000902 A null A T 136 136 missense 0.085 benign 0.01 deleterious 1 Adenomas and Adenocarcinomas From tissue: Fundus uteri P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs112571714 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000902 A null A T 136 136 missense 0.085 benign 0.01 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002322140 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs112571714 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1000902 A null A T 136 136 missense 0.085 benign 0.01 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001239121 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs769949390 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000906 T null S L 137 137 missense 0.982 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001950546 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs769949390 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000906 G null S W 137 137 missense 0.999 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002557686 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs769949390 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000906 G null S W 137 137 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001945377 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs866656054 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000909 A null G D 138 138 missense 0.314 benign 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001055428 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021706 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000912 C null H P 139 139 missense 0.369 benign 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001888860 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs762732997 4p16.3 4 1000917 C null T P 141 141 missense 0.313 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715033214 4p16.3 4 1000923 C null F L 143 143 missense 1.0 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs373342547 4p16.3 4 1000925 A null F L 143 143 missense 1.0 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1358269760 4p16.3 4 1000928 T null E D 144 144 missense 0.087 benign 0.17 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1334232938 4p16.3 4 1000929 A null D N 145 145 missense 0.465 possibly damaging 0.39 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs774214351 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000934 C null K N 146 146 missense 0.977 probably damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002979094 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1389029860 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1000935 T null Q * 147 147 stop gained 0 IDUA-related disorder ClinVar:RCV004751945 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1389029860 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1000935 T null Q * 147 147 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002537667 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1389029860 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1000935 T null Q * 147 147 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001264188 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715115080 4p16.3 4 1002028 T null A V 148 148 missense 0.003 benign 1.0 tolerated 1 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1158131878 4p16.3 4 1000941 A null V M 149 149 missense 0.981 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs144870444 4p16.3 4 1000945 C null F S 150 150 missense 0.179 benign 0.14 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534079401 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1000948_1000949 l null E null 151 151 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002306770 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534079406 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000948 G null E G 151 151 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002839374 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs767339070 4p16.3 4 1000947 A null E K 151 151 missense 0.181 benign 0.24 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs767339070 4p16.3 4 1000947 C null E Q 151 151 missense 0.289 benign 0.22 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1199061728 4p16.3 4 1000950 A null W R 152 152 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715035049 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000953 T null K * 153 153 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001174838 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715035049 4p16.3 4 1000953 G null K E 153 153 missense 0.348 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021723 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000958 G null D E 154 154 missense 0.079 benign 0.21 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001955021 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs760342781 4p16.3 4 1000956 T null D Y 154 154 missense 0.955 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715035599 4p16.3 4 1000963 C null V A 156 156 missense 0.983 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1473137019 4p16.3 4 1000970 A null S R 158 158 missense 0.011 benign 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs138731804 4p16.3 4 1000974 A null A T 160 160 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553916949 [ClinVar]: Hurler syndrome 4p16.3 4 1000981 A null R K 162 162 missense 0.939 probably damaging 0.02 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665377 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553916950 [ClinVar]: Hurler syndrome 4p16.3 4 1000984 p null Y * 163 163 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669996 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1466543112 [ClinVar]: Inborn genetic diseases, [ClinVar]: IDUA-related disorder 4p16.3 4 1000983 C null Y H 163 163 missense 1.0 probably damaging 0.0 deleterious 0 IDUA-related disorder ClinVar:RCV003396905 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1466543112 [ClinVar]: Inborn genetic diseases, [ClinVar]: IDUA-related disorder 4p16.3 4 1000983 C null Y H 163 163 missense 1.0 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003162198 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs752049819 4p16.3 4 1000988 G null I M 164 164 missense 0.96 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs141349021 [ClinVar]: Inborn genetic diseases 4p16.3 4 1000986 G null I V 164 164 missense 0.452 possibly damaging 0.1 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003364089 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150763745 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001468 A null G D 165 165 0.000784929 missense 0.035 benign 1.0 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002480846 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150763745 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001468 A null G D 165 165 0.000784929 missense 0.035 benign 1.0 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004034891 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150763745 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001468 A null G D 165 165 0.000784929 missense 0.035 benign 1.0 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001247276 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150763745 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001468 A null G D 165 165 0.000784929 missense 0.035 benign 1.0 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002480846 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs150763745 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001468 A null G D 165 165 0.000784929 missense 0.035 benign 1.0 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002480846 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs748326989 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000989 C null G R 165 165 missense 0.74 possibly damaging 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001984872 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs748326989 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1000989 A null G S 165 165 missense 0.332 benign 0.14 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005099297 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762623046 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001471 C null R T 166 166 missense 0.847 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001884420 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs200726100 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001475 G null Y * 167 167 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV004948175 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs753308650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001476 A null G R 168 168 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001930665 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs753308650 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001476 A null G R 168 168 missense 1.0 probably damaging 0.0 deleterious 0 Epithelial Neoplasms, NOS From tissue: Colon, NOS P35475 IDUA Alpha-L-iduronidase dbSNP rs1715068106 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001478_1001484 l null L null 169 169 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002810113 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs980445233 4p16.3 4 1001480 A null L Q 169 169 missense 0.944 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs764394402 4p16.3 4 1001483 G null A G 170 170 missense 0.007 benign 0.59 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715068536 4p16.3 4 1001482 C null A P 170 170 missense 0.378 benign 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs764394402 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001483 T null A V 170 170 missense 0.131 benign 0.25 tolerated 1 Adenomas and Adenocarcinomas From tissue: Cardia, NOS P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs764394402 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001483 T null A V 170 170 missense 0.131 benign 0.25 tolerated 1 Adenomas and Adenocarcinomas From tissue: Colon, NOS P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs764394402 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001483 T null A V 170 170 missense 0.131 benign 0.25 tolerated 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002932668 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715069355 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001486_1001487 l null H null 171 171 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001194421 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs778980678 4p16.3 4 1001485 G null H D 171 171 missense 0.179 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs745943106 [ClinVar]: IDUA-related disorder 4p16.3 4 1001487 A null H Q 171 171 missense 0.007 benign 0.18 tolerated 0 IDUA-related disorder ClinVar:RCV003416869 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715069237 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001486 G null H R 171 171 missense 0.25 benign 0.1 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003073334 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs778980678 4p16.3 4 1001485 T null H Y 171 171 missense 0.003 benign 0.92 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs924706122 4p16.3 4 1001489 C null V A 172 172 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,dbSNP,gnomAD rs139155899 4p16.3 4 1001488 T null V F 172 172 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,dbSNP,gnomAD rs139155899 4p16.3 4 1001488 A null V I 172 172 missense 0.991 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs139155899 4p16.3 4 1001488 C null V L 172 172 missense 0.958 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs768450577 4p16.3 4 1001491 G null S A 173 173 missense 0.1 benign 0.22 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1181224287 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001492 T null S F 173 173 missense 0.975 probably damaging 0.0 deleterious 1 Nevi and Melanomas From tissue: Skin, NOS P35475 IDUA Alpha-L-iduronidase dbSNP rs2534082785 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001494 T null K * 174 174 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309080 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715070353 4p16.3 4 1001495 C null K T 174 174 missense 0.79 possibly damaging 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534082809 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001497_1001508 l null WNFE null 175 178 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003593297 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776305028 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001499 A null W * 175 175 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001335171 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776305028 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001499 A null W * 175 175 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001880075 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776305028 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001499 A null W * 175 175 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001264189 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs875989946 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1001497 C null W R 175 175 missense 1.0 probably damaging 0.0 deleterious 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000211578 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs875989946 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1001497 C null W R 175 175 missense 1.0 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591715 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs875989946 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1001497 C null W R 175 175 missense 1.0 probably damaging 0.0 deleterious 1 Squamous Cell Neoplasms From tissue: Larynx, NOS P35475 IDUA Alpha-L-iduronidase dbSNP rs2534082851 [ClinVar]: Hurler syndrome 4p16.3 4 1001504 G null F C 177 177 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004437809 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs769331894 4p16.3 4 1001505 G null F L 177 177 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs762533612 4p16.3 4 1001508 T null E D 178 178 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Adenomas and Adenocarcinomas From tissue: Endometrium P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005034825 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651787 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034825 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H/S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. pubmed:21394825 4p16.3 4 1001506 A null E K 178 178 missense 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034825 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992336192 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001506 C null E Q 178 178 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003056912 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs766030255 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001509 G null T A 179 179 missense 0.913 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001994158 P35475 IDUA Alpha-L-iduronidase dbSNP rs776098539 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001510 A null T K 179 179 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003593298 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs776098539 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001510 T null T M 179 179 missense 0.993 probably damaging 0.0 deleterious 1 Adenomas and Adenocarcinomas From tissue: Endometrium P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs776098539 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001510 T null T M 179 179 missense 0.993 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001942261 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs776098539 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001510 G null T R 179 179 missense 0.99 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672356 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs776098539 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001510 G null T R 179 179 missense 0.99 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001378363 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs766030255 4p16.3 4 1001509 T null T S 179 179 missense 0.625 possibly damaging 0.12 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1044231895 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001513 A null W * 180 180 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001264190 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021904 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001514 A null W * 180 180 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001779451 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153021904 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001514 C null W C 180 180 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755528 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1044231895 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001513 C null W S 180 180 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001321820 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917044 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001516 p null N null 181 181 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674751 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917044 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001516 p null N null 181 181 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001203815 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715072314 4p16.3 4 1001516 G null N S 181 181 missense 0.963 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754154200 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001518 A null E K 182 182 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004820929 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754154200 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001518 A null E K 182 182 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754154200 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001518 A null E K 182 182 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002629390 P35475 IDUA Alpha-L-iduronidase dbSNP rs757706461 4p16.3 4 1001521 G null P A 183 183 missense 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1238128027 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001522 G null P R 183 183 missense 0.999 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000666385 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1238128027 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001522 G null P R 183 183 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002530682 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs757706461 4p16.3 4 1001521 T null P S 183 183 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765431965 4p16.3 4 1001526 A null D E 184 184 missense 0.944 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534083036 4p16.3 4 1001525 G null D G 184 184 missense 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs755445369 [ClinVar]: Hurler syndrome 4p16.3 4 1002135 A null V M 184 184 missense 0.944 probably damaging 0.0 deleterious 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000664972 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715073200 4p16.3 4 1001524 T null D Y 184 184 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs147174054 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001527 G null H D 185 185 missense 0.802 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002624371 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1064796754 4p16.3 4 1001528 C null H P 185 185 missense 0.982 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs147174054 4p16.3 4 1001527 T null H Y 185 185 missense 0.974 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1383523877 4p16.3 4 1001530 G null H D 186 186 missense 0.535 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1383523877 4p16.3 4 1001530 A null H N 186 186 missense 0.535 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758439259 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001531 G null H R 186 186 missense 0.095 benign 0.06 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004619596 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs758439259 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001531 G null H R 186 186 missense 0.095 benign 0.06 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001278328 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1383523877 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001530 T null H Y 186 186 missense 0.881 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003079602 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781534097 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002145 T null A V 187 187 missense 0.999 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002240078 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715074447 4p16.3 4 1001537 G null F C 188 188 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs759639526 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001542_1001555 l null N null 190 190 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005115074 P35475 IDUA Alpha-L-iduronidase dbSNP rs1330366594 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001544 l null N null 190 190 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003754919 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1039051028 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001543 G null N S 190 190 missense 0.979 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003091864 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs746908649 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001545 C null V L 191 191 missense 0.143 benign 0.3 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001939251 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534083260 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001550 l null SM * 192 193 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003018111 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1189807498 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001549 G null S C 192 192 missense 0.958 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002048588 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021918 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001553 A null M I 193 193 missense 0.186 benign 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001896519 P35475 IDUA Alpha-L-iduronidase Ensembl rs907343354 4p16.3 4 1001552 A null M K 193 193 missense 0.788 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs754876066 4p16.3 4 1001554 C null T P 194 194 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs575667885 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001555 G null T S 194 194 0.000196232 missense 0.498 possibly damaging 0.5 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002518994 P35475 IDUA Alpha-L-iduronidase gnomAD rs1244872478 4p16.3 4 1001559 T null M I 195 195 missense 0.003 benign 0.76 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1351618901 4p16.3 4 1001558 A null M K 195 195 missense 0.023 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022317 4p16.3 4 1002276 T null A V 195 195 missense 0.096 benign 0.21 tolerated 1 P35475 IDUA Alpha-L-iduronidase gnomAD rs1381474931 4p16.3 4 1001557 G null M V 195 195 missense 0.003 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153021921 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001559 p null Q null 196 196 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001381788 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534083333 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001560 T null Q * 196 196 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002907914 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs770087890 4p16.3 4 1001679 C null G A 197 197 missense 0.963 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs770087890 [ClinVar]: Hurler syndrome 4p16.3 4 1001679 A null G D 197 197 missense 0.996 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670346 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021926 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001563 A null G S 197 197 missense 0.994 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002052114 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021926 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001563 A null G S 197 197 missense 0.994 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV004801138 P35475 IDUA Alpha-L-iduronidase TOPMed rs1288056958 4p16.3 4 1001685 C null L P 199 199 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs766574778 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001692 G null Y * 201 201 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005040374 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs766574778 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001692 G null Y * 201 201 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005040374 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs766574778 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1001692 G null Y * 201 201 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005040374 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715085291 4p16.3 4 1001690 A null Y N 201 201 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1033313360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001695 A null Y * 202 202 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667572,ClinVar:RCV005034245 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1033313360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001695 A null Y * 202 202 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001385939,ClinVar:RCV001389275 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1033313360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001695 A null Y * 202 202 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001823205,ClinVar:RCV005034245 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1033313360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001695 A null Y * 202 202 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034245 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917091 [ClinVar]: Hurler syndrome 4p16.3 4 1001690TAC ] null Y YY 202 202 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672307 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021976 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001696 A null D N 203 203 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001956544 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153021976 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001696 T null D Y 203 203 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002050273 P35475 IDUA Alpha-L-iduronidase ExAC rs751861062 4p16.3 4 1001699 A null A T 204 204 missense 0.993 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084353 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001696_1001703 p null C null 205 205 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755353 P35475 IDUA Alpha-L-iduronidase dbSNP rs875989947 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001701_1001704 l null C null 205 205 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001934522 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715086654 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001704 A null C * 205 205 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001058705 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715086654 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001704 A null C * 205 205 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001263615 P35475 IDUA Alpha-L-iduronidase dbSNP rs140294059 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001702 G null C G 205 205 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002603398 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715086540 4p16.3 4 1001703 C null C S 205 205 missense 0.82 possibly damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs140294059 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001702 A null C S 205 205 missense 0.82 possibly damaging 0.05 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003065231 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715086540 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001703 A null C Y 205 205 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001961290 P35475 IDUA Alpha-L-iduronidase dbSNP rs875989947 [ClinVar]: Hurler syndrome 4p16.3 4 1001701_1001704 p null S null 206 206 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000211625 P35475 IDUA Alpha-L-iduronidase dbSNP rs756131787 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001706 A null S * 206 206 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309895 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs756131787 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001706 T null S L 206 206 missense 0.995 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002002109 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs752530466 4p16.3 4 1001705 C null S P 206 206 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs756131787 4p16.3 4 1001706 G null S W 206 206 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs786200915 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15521993,pubmed:8664897 4p16.3 4 1001702_1001706 p null E null 207 207 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012696 P35475 IDUA Alpha-L-iduronidase dbSNP rs786200915 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15521993,pubmed:8664897 4p16.3 4 1001702_1001706 p null E null 207 207 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208610 P35475 IDUA Alpha-L-iduronidase dbSNP rs753678881 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001710 T null E D 207 207 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755610 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1553917102 4p16.3 4 1001708 C null E Q 207 207 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1430681871 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001712 C null G A 208 208 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002607336 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1430681871 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001712 A null G D 208 208 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670254 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1430681871 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001712 A null G D 208 208 missense 1 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1430681871 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1001712 A null G D 208 208 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001855539 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs757171895 4p16.3 4 1001711 A null G S 208 208 missense 0.999 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084526 [ClinVar]: Hurler syndrome 4p16.3 4 1001713_1001717 p null R null 210 210 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004594972 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs992408218 4p16.3 4 1001717 G null R G 210 210 missense 0.884 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371021597 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001718 A null P H 210 210 missense 0.113 benign 0.03 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002636830 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084566 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001718_1001719delin G null R Q 210 210 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591474 P35475 IDUA Alpha-L-iduronidase gnomAD rs1462289312 4p16.3 4 1002320 T null P S 210 210 missense 0.003 benign 0.04 deleterious 1 P35475 IDUA Alpha-L-iduronidase dbSNP rs1560546897 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001719 l null A null 211 211 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002624267 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1560546903 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001720 T null A S 211 211 missense 0.392 benign 0.38 tolerated 0 Adenomas and Adenocarcinomas From tissue: Lung, NOS P35475 IDUA Alpha-L-iduronidase Ensembl rs1560546903 4p16.3 4 1001720 A null A T 211 211 missense 0.027 benign 0.12 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202191662 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002327 G null A G 212 212 missense 0.003 benign 0.01 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002379241 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs202191662 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002327 G null A G 212 212 missense 0.003 benign 0.01 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000277691 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754095810 [ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002326 A null A T 212 212 missense 0.006 benign 1.0 tolerated 1 Adenomas and Adenocarcinomas From tissue: Uterus, NOS P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754095810 [ClinVar]: Inborn genetic diseases, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002326 A null A T 212 212 missense 0.006 benign 1.0 tolerated 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004399964 P35475 IDUA Alpha-L-iduronidase dbSNP rs760582777 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001726_1001734 p null SPA null 213 215 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673681 P35475 IDUA Alpha-L-iduronidase dbSNP rs760582777 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001726_1001734 p null SPA null 213 215 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001855600 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1383674405 4p16.3 4 1001728 G null S R 213 213 missense 0.953 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs764105238 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001729_1001731 p null P PP 214 214 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667020 P35475 IDUA Alpha-L-iduronidase dbSNP rs764105238 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001729_1001731 p null P PP 214 214 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002532059 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084703 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001730 G null P R 214 214 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002580637 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715089157 4p16.3 4 1001729 T null P S 214 214 missense 0.221 benign 0.28 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs779636819 4p16.3 4 1001732 A null A T 215 215 missense 0.044 benign 0.51 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022009 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001731_1001735 l null L null 216 216 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001960688 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs748589618 4p16.3 4 1001736 C null L P 216 216 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022019 4p16.3 4 1001735 G null L V 216 216 missense 0.994 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1361925254 4p16.3 4 1001739 A null R Q 217 217 missense 0.095 benign 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs869025584 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1001742 C null L P 218 218 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672514,ClinVar:RCV002500671 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs869025584 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1001742 C null L P 218 218 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs869025584 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1001742 C null L P 218 218 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208593 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs869025584 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1001742 C null L P 218 218 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002500671 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs869025584 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1001742 C null L P 218 218 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002500671 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1230234600 4p16.3 4 1001745 C null G A 219 219 missense 0.984 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1230234600 [UniProt]: MPS1S pubmed:21394825 4p16.3 4 1001745 A null G E 219 219 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084817 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001744 A null G R 219 219 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002298153,ClinVar:RCV003591421 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1362102709 4p16.3 4 1001748 A null G D 220 220 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs772448566 4p16.3 4 1002350 C null F L 220 220 missense 0.965 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1362102709 4p16.3 4 1001748 T null G V 220 220 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1294629478 4p16.3 4 1001750 G null P A 221 221 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084879 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001752 l null G null 222 222 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309427 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1367413817 4p16.3 4 1001753 T null G C 222 222 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1367413817 4p16.3 4 1001753 A null G S 222 222 missense 0.992 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577539555 4p16.3 4 1001757 C null D A 223 223 missense 0.714 possibly damaging 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715092108 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001758 G null D E 223 223 missense 0.966 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002755213 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs183347428 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001756 A null D N 223 223 missense 0.985 probably damaging 0.03 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002527033 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs183347428 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001756 A null D N 223 223 missense 0.985 probably damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000708550 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs183347428 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001756 T null D Y 223 223 missense 0.995 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001915782 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs367813829 4p16.3 4 1001759 G null S A 224 224 0.000196232 missense 0.048 benign 0.14 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs367813829 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001759 C null S P 224 224 0.000196232 missense 0.941 probably damaging 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004071722 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs367813829 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001759 C null S P 224 224 0.000196232 missense 0.941 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003075042 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534084987 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001764_1001766deli T null T null 227 227 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002306511 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715093047 4p16.3 4 1001769 A null T N 227 227 missense 0.009 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1170250452 4p16.3 4 1001768 C null T P 227 227 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1219720271 4p16.3 4 1001772 T null P L 228 228 missense 0.006 benign 0.68 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs775641597 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001771 T null P S 228 228 missense 0.011 benign 0.31 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001242005 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs760900176 4p16.3 4 1001775 G null P R 229 229 missense 0.903 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715144653 [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1002380 T null R * 230 230 missense 1 Adenomas and Adenocarcinomas From tissue: Colon, NOS P35475 IDUA Alpha-L-iduronidase gnomAD rs1192653505 4p16.3 4 1001778 C null R P 230 230 missense 0.378 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1192653505 4p16.3 4 1001778 A null R Q 230 230 missense 0.057 benign 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs933301757 4p16.3 4 1001781 G null S C 231 231 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs933301757 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001781 T null S F 231 231 missense 0.685 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001964648 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002387 A null T K 232 232 missense 0.988 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003820064 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs753875643 4p16.3 4 1001783 A null P T 232 232 missense 0.991 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1179147918 4p16.3 4 1001786 A null L M 233 233 missense 0.162 benign 0.24 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715094805 4p16.3 4 1001791 A null S R 234 234 missense 0.768 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201826605 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related disorder 4p16.3 4 1001790 C null S T 234 234 0.000392465 missense 0.316 benign 0.0 deleterious 0 IDUA-related disorder ClinVar:RCV003942737 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201826605 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related disorder 4p16.3 4 1001790 C null S T 234 234 0.000392465 missense 0.316 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000553823 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201826605 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related disorder 4p16.3 4 1001790 C null S T 234 234 0.000392465 missense 0.316 benign 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV001329096 P35475 IDUA Alpha-L-iduronidase TOPMed rs1480780678 4p16.3 4 1001794 A null W * 235 235 stop gained 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1250362489 4p16.3 4 1001796 A null G D 236 236 missense 0.435 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74385837 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1001798 T null L F 237 237 0.00706436 missense 0.997 probably damaging 0.04 deleterious 0 IDUA-related disorder ClinVar:RCV003936179 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74385837 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1001798 T null L F 237 237 0.00706436 missense 0.997 probably damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000973977 P35475 IDUA Alpha-L-iduronidase ESP,ExAC rs147353014 4p16.3 4 1001799 A null L H 237 237 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs74385837 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001798 G null L V 237 237 0.00706436 missense 0.982 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002962297 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001802 C null L P 238 238 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002021314 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:15300847 4p16.3 4 1001802 A null L Q 238 238 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668680 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:15300847 4p16.3 4 1001802 A null L Q 238 238 missense 0 IDUA-related disorder ClinVar:RCV004751408 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:15300847 4p16.3 4 1001802 A null L Q 238 238 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:15300847 4p16.3 4 1001802 A null L Q 238 238 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000802940 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs148789453 4p16.3 4 1001802 G null L R 238 238 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1375365617 4p16.3 4 1001805 A null R H 239 239 missense 0.501 possibly damaging 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715096263 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001804 A null R S 239 239 missense 0.009 benign 0.53 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001153897 P35475 IDUA Alpha-L-iduronidase dbSNP rs1374359136 4p16.3 4 1001807 G null H D 240 240 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1374359136 [ClinVar]: Hurler syndrome 4p16.3 4 1001807 A null H N 240 240 missense 0.99 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002226933 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715096917 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001809 G null H Q 240 240 missense 0.993 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001309288 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1297784711 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001808 G null H R 240 240 missense 0.993 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001218009 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1297784711 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001808 G null H R 240 240 missense 0.993 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001810498 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1374359136 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001807 T null H Y 240 240 missense 0.873 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003105080 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534085334 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001811_1001812delin A null C * 241 241 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592648 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715097170 4p16.3 4 1001812 A null C * 241 241 stop gained 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs775816150 4p16.3 4 1002416 C null T P 242 242 missense 0.996 probably damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534085348 4p16.3 4 1001815 A null H Q 242 242 missense 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs749829798 4p16.3 4 1001818 A null D E 243 243 missense 0.057 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1446761809 4p16.3 4 1001817 G null D G 243 243 missense 0.003 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1460797649 4p16.3 4 1001816 C null D H 243 243 missense 0.007 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1460797649 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001816 A null D N 243 243 missense 0.0 benign 1.0 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004988967 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1460797649 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001816 A null D N 243 243 missense 0.0 benign 1.0 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001950296 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs375300630 4p16.3 4 1001820 C null G A 244 244 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,dbSNP,gnomAD rs375300630 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1001820 A null G D 244 244 missense 0.999 probably damaging 0.01 deleterious 0 Lymphoid Leukemias From tissue: Bone marrow P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs375300630 4p16.3 4 1001820 T null G V 244 244 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1226615259 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001823 T null T I 245 245 missense 0.924 probably damaging 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001937486 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765432091 4p16.3 4 1002429 G null H R 246 246 missense 0.619 possibly damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase Ensembl rs1560547134 4p16.3 4 1001826 G null N S 246 246 missense 0.995 probably damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1223536781 4p16.3 4 1001828 C null F L 247 247 missense 0.875 possibly damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368241547 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001830 A null F L 247 247 missense 0.875 possibly damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002647559 P35475 IDUA Alpha-L-iduronidase dbSNP rs764800004 [ClinVar]: Hurler syndrome 4p16.3 4 1001828TTC ] null F null 248 248 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667110 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022072 4p16.3 4 1001832 G null F C 248 248 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs760812013 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001835 T null T I 249 249 missense 0.988 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755011 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs760812013 4p16.3 4 1001835 A null T N 249 249 missense 0.995 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs760812013 4p16.3 4 1001835 G null T S 249 249 missense 0.903 possibly damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534085614 4p16.3 4 1001838 T null G V 250 250 missense 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534085607 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1001840 p null E null 251 251 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002310260,ClinVar:RCV002309825 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715099774 4p16.3 4 1001844 A null A E 252 252 missense 0.129 benign 0.31 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1180708654 4p16.3 4 1001843 A null A T 252 252 missense 0.009 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1167839388 4p16.3 4 1001847 C null G A 253 253 missense 0.879 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs546933529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001846 T null G C 253 253 missense 0.996 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669801 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs546933529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001846 T null G C 253 253 missense 0.996 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001265722 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs546933529 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001846 T null G C 253 253 missense 0.996 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000916227 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1167839388 4p16.3 4 1001847 A null G D 253 253 missense 0.947 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs764882035 4p16.3 4 1001850 G null V G 254 254 missense 0.961 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1445946287 4p16.3 4 1001853 C null R P 255 255 missense 0.689 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1445946287 4p16.3 4 1001853 A null R Q 255 255 missense 0.986 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs750230093 4p16.3 4 1001852 T null R W 255 255 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs373037758 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001856 C null L P 256 256 missense 0.997 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005252735 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs373037758 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001856 C null L P 256 256 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001854379 P35475 IDUA Alpha-L-iduronidase TOPMed rs1321390723 4p16.3 4 1001860 A null D E 257 257 missense 0.979 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1001962975 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001859 G null D G 257 257 missense 0.995 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001366095 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022094 4p16.3 4 1001858 T null D Y 257 257 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1276524614 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001863 A null Y * 258 258 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755825 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1230294335 4p16.3 4 1001862 G null Y C 258 258 missense 0.983 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022099 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001864 C null I L 259 259 missense 0.982 probably damaging 0.09 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002025321 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs766033352 4p16.3 4 1001866 G null I M 259 259 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs751256890 4p16.3 4 1001867 G null S A 260 260 missense 0.041 benign 0.89 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715102531 [UniProt]: MPS1H/S pubmed:12559846 4p16.3 4 1001868 T null S F 260 260 missense 0.948 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs983573900 [ClinVar]: Inborn genetic diseases 4p16.3 4 1002471 A null L Q 260 260 missense 0.991 probably damaging 0.0 deleterious 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004399966 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs754449488 4p16.3 4 1001870 T null L F 261 261 missense 0.224 benign 0.23 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1656615837 4p16.3 4 1001871 A null L H 261 261 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs757928590 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001873 l null H null 262 262 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001726458,ClinVar:RCV002480753 P35475 IDUA Alpha-L-iduronidase dbSNP rs757928590 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001873 l null H null 262 262 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001229775 P35475 IDUA Alpha-L-iduronidase dbSNP rs757928590 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001873 l null H null 262 262 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002480753 P35475 IDUA Alpha-L-iduronidase dbSNP rs757928590 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001873 l null H null 262 262 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002480753 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715103254 4p16.3 4 1001875 A null H Q 262 262 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1031451164 4p16.3 4 1001874 G null H R 262 262 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs375305122 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001873 T null H Y 262 262 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001349828 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201268637 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001876 T null R W 263 263 missense 0.937 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665392 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs201268637 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1001876 T null R W 263 263 missense 0.937 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001153898 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534086164 4p16.3 4 1001881 T null K N 264 264 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931510421 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001983 A null G D 265 265 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651788 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs369090960 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S pubmed:21394825 4p16.3 4 1001982 C null G R 265 265 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs369090960 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S pubmed:21394825 4p16.3 4 1001982 C null G R 265 265 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000790540 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs369090960 4p16.3 4 1001982 A null G S 265 265 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1214579986 4p16.3 4 1001989 A null R H 267 267 missense 0.672 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1214579986 4p16.3 4 1001989 T null R L 267 267 missense 0.284 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202051939 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001995 G null S C 269 269 0.000392465 missense 0.997 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005047318 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202051939 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001995 G null S C 269 269 0.000392465 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001154740 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202051939 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001995 G null S C 269 269 0.000392465 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005047318 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202051939 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1001995 G null S C 269 269 0.000392465 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005047318 P35475 IDUA Alpha-L-iduronidase gnomAD rs1218414549 4p16.3 4 1001994 C null S P 269 269 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1218414549 4p16.3 4 1001994 A null S T 269 269 missense 0.868 possibly damaging 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs202051939 4p16.3 4 1001995 A null S Y 269 269 0.000392465 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1450239242 4p16.3 4 1001997 T null I F 270 270 missense 0.015 benign 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1241791378 4p16.3 4 1001999 G null I M 270 270 missense 0.079 benign 0.22 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1450239242 4p16.3 4 1001997 G null I V 270 270 missense 0.048 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs766950553 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002001 T null S F 271 271 missense 0.018 benign 0.68 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000793555 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715112392 4p16.3 4 1002000 C null S P 271 271 missense 0.011 benign 0.23 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs766950553 4p16.3 4 1002001 A null S Y 271 271 missense 0.005 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs536381533 4p16.3 4 1002003 T null I F 272 272 missense 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs536381533 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002003 C null I L 272 272 0.000196232 missense 0.963 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000356974 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,gnomAD rs376573681 4p16.3 4 1002004 C null I T 272 272 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1420367984 4p16.3 4 1002007 G null L R 273 273 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1553917192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002009 T null E * 274 274 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668628 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1553917192 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002009 T null E * 274 274 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001855504 P35475 IDUA Alpha-L-iduronidase TOPMed rs1553917192 4p16.3 4 1002009 C null E Q 274 274 missense 0.255 benign 0.71 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022171 4p16.3 4 1002014 T null Q H 275 275 missense 0.058 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1388774665 4p16.3 4 1002012 A null Q K 275 275 missense 0.338 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1404575328 4p16.3 4 1002013 C null Q P 275 275 missense 0.759 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs779448832 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002017 C null E D 276 276 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002791821 P35475 IDUA Alpha-L-iduronidase gnomAD rs1323924285 4p16.3 4 1002016 G null E G 276 276 missense 0.939 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087192 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002015_1002017 l null E null 276 276 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003593299 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005038695 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 IDUA-related core myopathy ClinVar:RCV004587627 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV004690507 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005038695 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005038695 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087208 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: IDUA-related core myopathy pubmed:21394825 4p16.3 4 1002015 A null E K 276 276 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs750930336 4p16.3 4 1002020 C null K N 277 277 missense 0.028 benign 0.12 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1184590180 4p16.3 4 1002021 A null V I 278 278 missense 0.129 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715114622 4p16.3 4 1002024 A null V I 279 279 missense 0.265 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715114962 4p16.3 4 1002027 T null A S 280 280 missense 0.019 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs780587786 4p16.3 4 1002031 G null Q R 281 281 missense 0.007 benign 0.4 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs747168143 4p16.3 4 1002035 C null Q H 282 282 missense 0.928 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs886042832 [ClinVar]: Inborn genetic diseases 4p16.3 4 1002034 T null Q L 282 282 missense 0.027 benign 0.1 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005582286 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs555091763 4p16.3 4 1002037 C null I T 283 283 0.000196232 missense 0.89 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1209648267 4p16.3 4 1002040 T null R L 284 284 missense 0.083 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1209648267 4p16.3 4 1002040 C null R P 284 284 missense 0.284 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1209648267 4p16.3 4 1002040 A null R Q 284 284 missense 0.001 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1426919426 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002039 T null R W 284 284 missense 0.806 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001278329 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022188 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002042 l null Q null 285 285 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001380663 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs781622799 4p16.3 4 1002044 C null Q H 285 285 missense 0.015 benign 0.11 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1464048268 4p16.3 4 1002792 T null T M 285 285 missense 0.265 benign 0.03 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715116508 4p16.3 4 1002046 C null L P 286 286 missense 0.692 possibly damaging 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1470088682 4p16.3 4 1002045 G null L V 286 286 missense 0.267 benign 0.32 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs748239393 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002049 G null F C 287 287 missense 0.998 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004546627 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs748239393 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002049 G null F C 287 287 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001278330 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1301982320 4p16.3 4 1002048 C null F L 287 287 missense 0.953 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC rs769805145 4p16.3 4 1002051 G null P A 288 288 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1238096554 4p16.3 4 1002052 T null P L 288 288 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087492 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002055 l null K null 289 289 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003844508 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715117568 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002059 A null F L 290 290 missense 0.35 benign 0.37 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001980601 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022197 4p16.3 4 1002057 C null F L 290 290 missense 0.35 benign 0.37 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs370847691 4p16.3 4 1002060 A null A T 291 291 missense 0.04 benign 0.46 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1414985530 4p16.3 4 1002061 T null A V 291 291 missense 0.448 possibly damaging 0.21 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917209 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002065 l null D null 292 292 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001007594 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917209 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002065 l null D null 292 292 frameshift 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001266574 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917209 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002065 l null D null 292 292 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000547146 P35475 IDUA Alpha-L-iduronidase gnomAD rs1366970154 4p16.3 4 1002063 A null D N 292 292 missense 0.011 benign 0.25 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs779762183 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002067_1002078 p null TPIY null 293 296 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665114,ClinVar:RCV005034235 P35475 IDUA Alpha-L-iduronidase dbSNP rs779762183 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002067_1002078 p null TPIY null 293 296 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000794373 P35475 IDUA Alpha-L-iduronidase dbSNP rs779762183 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002067_1002078 p null TPIY null 293 296 insertion 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034235 P35475 IDUA Alpha-L-iduronidase dbSNP rs779762183 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002067_1002078 p null TPIY null 293 296 insertion 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034235 P35475 IDUA Alpha-L-iduronidase Ensembl rs1473703840 4p16.3 4 1002069 G null P A 294 294 missense 0.733 possibly damaging 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1473703840 4p16.3 4 1002069 T null P S 294 294 missense 0.933 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1473703840 4p16.3 4 1002069 A null P T 294 294 missense 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022202 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002071 p null I null 295 295 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001390271 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577540397 4p16.3 4 1002074 G null I M 295 295 missense 0.967 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1396489211 4p16.3 4 1002073 C null I T 295 295 missense 0.881 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917216 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002075_1002083 p null YND null 296 298 insertion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674564 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917216 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002075_1002083 p null YND null 296 298 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV004948562 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1031564096 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002083 A null D E 298 298 missense 0.933 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003779247 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1400866021 4p16.3 4 1002081 A null D N 298 298 missense 0.818 possibly damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715120049 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002084 T null E * 299 299 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002275339 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715120049 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002084 T null E * 299 299 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001269274 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs774139207 4p16.3 4 1002086 T null E D 299 299 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs121965030 [ClinVar]: IDUA PSEUDODEFICIENCY, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: IDUA pseudodeficiency, [ClinVar]: Hurler syndrome pubmed:8554071 pubmed:8554071 4p16.3 4 1002087 A null A T 300 300 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667026 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs121965030 [ClinVar]: IDUA PSEUDODEFICIENCY, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: IDUA pseudodeficiency, [ClinVar]: Hurler syndrome pubmed:8554071 pubmed:8554071 4p16.3 4 1002087 A null A T 300 300 missense 0 IDUA PSEUDODEFICIENCY ClinVar:RCV000012698 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs121965030 [ClinVar]: IDUA PSEUDODEFICIENCY, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: IDUA pseudodeficiency, [ClinVar]: Hurler syndrome pubmed:8554071 pubmed:8554071 4p16.3 4 1002087 A null A T 300 300 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001206227 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715120430 4p16.3 4 1002088 T null A V 300 300 missense 0.994 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs759390416 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002092 G null D E 301 301 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001975007 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715120665 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002090 C null D H 301 301 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755220 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715120665 4p16.3 4 1002090 A null D N 301 301 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022225 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002094 l null P null 302 302 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001385364 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP rs767140903 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002094 G null P R 302 302 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002046291 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715120993 4p16.3 4 1002093 T null P S 302 302 missense 0.998 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715120993 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002093 A null P T 302 302 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001378444 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715121337 4p16.3 4 1002097 C null L P 303 303 missense 0.997 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022228 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002099 l null V null 304 304 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001382944 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022229 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002100 l null V null 304 304 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002032547 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022229 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002100 l null V null 304 304 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001821870 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715121468 4p16.3 4 1002102 A null G S 305 305 missense 0.992 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1259428940 4p16.3 4 1002851 A null A T 305 305 missense 0.007 benign 1.0 tolerated 1 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1285575274 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002105 G null W G 306 306 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002785742 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087842 [UniProt]: MPS1S, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:21394825 4p16.3 4 1002106 T null W L 306 306 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651789 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534087842 [UniProt]: MPS1S, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:21394825 4p16.3 4 1002106 T null W L 306 306 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs113373271 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002109 T null S F 307 307 missense 0.978 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002612346 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs113373271 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002109 T null S F 307 307 missense 0.978 probably damaging 0.0 deleterious 0 Squamous Cell Neoplasms From tissue: Head, face or neck, NOS P35475 IDUA Alpha-L-iduronidase gnomAD rs1337488045 4p16.3 4 1002108 C null S P 307 307 missense 0.98 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752337969 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002112 C null L P 308 308 missense 0.763 possibly damaging 0.15 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668685,ClinVar:RCV005044895 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752337969 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002112 C null L P 308 308 missense 0.763 possibly damaging 0.15 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248917 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752337969 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002112 C null L P 308 308 missense 0.763 possibly damaging 0.15 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005044895 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752337969 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002112 C null L P 308 308 missense 0.763 possibly damaging 0.15 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005044895 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs752337969 4p16.3 4 1002112 G null L R 308 308 missense 0.013 benign 0.79 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs750893089 4p16.3 4 1002114 A null P T 309 309 missense 0.987 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965023 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8328452 4p16.3 4 1002117 T null Q * 310 310 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012690 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965023 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8328452 4p16.3 4 1002117 T null Q * 310 310 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005252031 P35475 IDUA Alpha-L-iduronidase Ensembl rs956034605 4p16.3 4 1002119 C null Q H 310 310 missense 0.873 possibly damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs377684568 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002121 T null P L 311 311 missense 0.007 benign 0.32 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002534721 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs377684568 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002121 T null P L 311 311 missense 0.007 benign 0.32 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000802738 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs377684568 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002121 G null P R 311 311 missense 0.184 benign 0.49 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002651864 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs377684568 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002121 G null P R 311 311 missense 0.184 benign 0.49 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651865 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715123409 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002125 A null W * 312 312 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001060568 P35475 IDUA Alpha-L-iduronidase gnomAD rs1188592487 4p16.3 4 1002126 G null R G 313 313 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715123655 4p16.3 4 1002127 A null R K 313 313 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715123919 4p16.3 4 1002129 T null A S 314 314 missense 0.831 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715123919 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002129 A null A T 314 314 missense 0.205 benign 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001952756 P35475 IDUA Alpha-L-iduronidase gnomAD rs1021919504 4p16.3 4 1002130 T null A V 314 314 missense 0.831 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1256735931 4p16.3 4 1002134 G null D E 315 315 missense 0.92 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022248 4p16.3 4 1002132 A null D N 315 315 missense 0.377 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715124887 4p16.3 4 1002136 G null V G 316 316 missense 0.988 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1170717159 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002139 T null T I 317 317 missense 0.989 probably damaging 0.06 tolerated 1 Adenomas and Adenocarcinomas From tissue: Kidney, NOS P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1170717159 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002139 T null T I 317 317 missense 0.989 probably damaging 0.06 tolerated 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002833469 P35475 IDUA Alpha-L-iduronidase dbSNP rs1400939830 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002143 G null Y * 318 318 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592393 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534088071 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002141 C null Y H 318 318 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003046407 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781534097 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002145 A null A E 319 319 missense 0.999 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002249078 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781534097 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002145 A null A E 319 319 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003101337 P35475 IDUA Alpha-L-iduronidase ESP,dbSNP,gnomAD rs374699130 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002144 A null A T 319 319 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003070477 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1398575078 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002147 A null A T 320 320 missense 0.945 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003114880 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022258 4p16.3 4 1002148 T null A V 320 320 missense 0.377 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1230336914 4p16.3 4 1002152 A null M I 321 321 missense 0.156 benign 0.12 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs777732506 4p16.3 4 1002151 C null M T 321 321 missense 0.838 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs756173284 4p16.3 4 1002150 G null M V 321 321 missense 0.238 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022263 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002154 l null V null 322 322 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002034567 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76722191 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002154 A null V E 322 322 missense 0.999 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674701 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76722191 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002154 A null V E 322 322 missense 0.999 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004020565 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs76722191 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002154 A null V E 322 322 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208612 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1433608644 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002153 T null V L 322 322 missense 0.983 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001154742 P35475 IDUA Alpha-L-iduronidase TOPMed rs1433608644 4p16.3 4 1002153 A null V M 322 322 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1292105908 4p16.3 4 1002269 A null V I 325 325 missense 0.787 possibly damaging 0.28 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1390420489 4p16.3 4 1002274 G null I M 326 326 missense 0.978 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917253 [ClinVar]: Hurler syndrome 4p16.3 4 1002271_1002276 l null IA null 326 327 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668803 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1461992821 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002273 C null I T 326 326 missense 0.946 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000631453 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs199801029 [UniProt]: MPS1H; MPS1H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:7951228 4p16.3 4 1002275 C null A P 327 327 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000180108,ClinVar:RCV005031662 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs199801029 [UniProt]: MPS1H; MPS1H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:7951228 4p16.3 4 1002275 C null A P 327 327 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs199801029 [UniProt]: MPS1H; MPS1H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:7951228 4p16.3 4 1002275 C null A P 327 327 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208605 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs199801029 [UniProt]: MPS1H; MPS1H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:7951228 4p16.3 4 1002275 C null A P 327 327 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005031662 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs199801029 [UniProt]: MPS1H; MPS1H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:7951228 4p16.3 4 1002275 C null A P 327 327 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005031662 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746606129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002280 T null Q H 328 328 missense 0.992 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003756543 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746606129 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002280 T null Q H 328 328 missense 0.992 probably damaging 0.0 deleterious 0 Adenomas and Adenocarcinomas From tissue: Uterus, NOS P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs768189258 4p16.3 4 1002282 T null H L 329 329 missense 1.0 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs768189258 4p16.3 4 1002282 G null H R 329 329 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs776395091 4p16.3 4 1002287 G null N D 331 331 missense 0.053 benign 0.37 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1318917960 4p16.3 4 1002289 G null N K 331 331 missense 0.151 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1222686614 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002291 C null L P 332 332 missense 0.096 benign 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001279107 P35475 IDUA Alpha-L-iduronidase gnomAD rs1264690060 4p16.3 4 1002294 C null L P 333 333 missense 0.216 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs753372554 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002297 G null L R 334 334 missense 0.007 benign 0.09 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004631722 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs753372554 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002297 G null L R 334 334 missense 0.007 benign 0.09 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001832731 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs774951461 4p16.3 4 1002299 T null A S 335 335 missense 0.022 benign 0.35 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715137524 4p16.3 4 1002302 C null N H 336 336 missense 0.747 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs760137408 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002303 C null N T 336 336 missense 0.314 benign 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003368034 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs760137408 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002303 C null N T 336 336 missense 0.314 benign 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002637865 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs767858023 4p16.3 4 1002306 T null T I 337 337 missense 0.184 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1421727441 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002312 T null S F 339 339 missense 0.842 possibly damaging 0.09 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003106338 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089061 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1002310_1002311insATGGCCGCGT G null S MAA* 339 339 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309780 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715138318 4p16.3 4 1002314 C null A P 340 340 missense 0.158 benign 0.24 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022332 4p16.3 4 1002315 T null A V 340 340 missense 0.06 benign 0.14 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089112 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002319_1002322 l null P null 342 342 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592046 P35475 IDUA Alpha-L-iduronidase gnomAD rs1328522048 4p16.3 4 1002321 T null P L 342 342 missense 0.082 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs764196171 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002325 A null Y * 343 343 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665229,ClinVar:RCV001169956 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs764196171 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002325 A null Y * 343 343 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001387754,ClinVar:RCV000208592 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754095810 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002326 C null A P 344 344 missense 0.268 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001158193 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022341 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002332 l null LL * 345 346 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002042095 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1279043542 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002329 T null L F 345 345 missense 0.989 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003061672 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs121965033 4p16.3 4 1002333 C null L P 346 346 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965033 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [UniProt]: MPS1H/S; 0.4% of normal activity, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:10735634 pubmed:10735634,pubmed:15521993 4p16.3 4 1002333 G null L R 346 346 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012703,ClinVar:RCV005042035 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965033 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [UniProt]: MPS1H/S; 0.4% of normal activity, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:10735634 pubmed:10735634,pubmed:15521993 4p16.3 4 1002333 G null L R 346 346 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965033 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [UniProt]: MPS1H/S; 0.4% of normal activity, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:10735634 pubmed:10735634,pubmed:15521993 4p16.3 4 1002333 G null L R 346 346 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248726 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965033 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [UniProt]: MPS1H/S; 0.4% of normal activity, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:10735634 pubmed:10735634,pubmed:15521993 4p16.3 4 1002333 G null L R 346 346 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012702,ClinVar:RCV005042035 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965033 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [UniProt]: MPS1H/S; 0.4% of normal activity, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:10735634 pubmed:10735634,pubmed:15521993 4p16.3 4 1002333 G null L R 346 346 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005042035 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780106243 4p16.3 4 1002336 A null S N 347 347 missense 0.988 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022349 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002335 C null S R 347 347 missense 0.993 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001378364 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780106243 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002336 C null S T 347 347 missense 0.987 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005042636 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780106243 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002336 C null S T 347 347 missense 0.987 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001973995 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780106243 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002336 C null S T 347 347 missense 0.987 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005042636 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs780106243 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002336 C null S T 347 347 missense 0.987 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005042636 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715140900 4p16.3 4 1002338 G null N D 348 348 missense 0.874 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022354 4p16.3 4 1002339 T null N I 348 348 missense 0.909 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746766617 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 1002340 G null N K 348 348 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674066 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746766617 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 1002340 G null N K 348 348 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746766617 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S pubmed:21394825 4p16.3 4 1002340 G null N K 348 348 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000807531 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs371397270 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002342 G null D G 349 349 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 Adenomas and Adenocarcinomas From tissue: Endometrium P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs371397270 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002342 G null D G 349 349 0.000196232 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001222699 P35475 IDUA Alpha-L-iduronidase dbSNP rs1230096882 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002341_1002343 l null D null 349 349 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674084,ClinVar:RCV005034274 P35475 IDUA Alpha-L-iduronidase dbSNP rs1230096882 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002341_1002343 l null D null 349 349 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001861834 P35475 IDUA Alpha-L-iduronidase dbSNP rs1230096882 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002341_1002343 l null D null 349 349 inframe deletion 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034274 P35475 IDUA Alpha-L-iduronidase dbSNP rs1230096882 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002341_1002343 l null D null 349 349 inframe deletion 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034274 P35475 IDUA Alpha-L-iduronidase dbSNP rs368454909 [ClinVar]: Mucopolysaccharidosis, MPS-II 4p16.3 4 1002341 C null D H 349 349 missense 0 Mucopolysaccharidosis, MPS-II (MPS2) Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycan (GAG) accumulation. MIM:309900 pubmed:20301451,pubmed:21863056,pubmed:25071396,ClinVar:RCV003340978 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H pubmed:31194252 4p16.3 4 1002341 A null D N 349 349 missense 1 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H pubmed:31194252 4p16.3 4 1002341 A null D N 349 349 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248916 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:12559846 4p16.3 4 1002341 T null D Y 349 349 missense 1.0 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005036124 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:12559846 4p16.3 4 1002341 T null D Y 349 349 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000790541 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:12559846 4p16.3 4 1002341 T null D Y 349 349 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005036124 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:12559846 4p16.3 4 1002341 T null D Y 349 349 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005036124 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs368454909 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:12559846 4p16.3 4 1002341 T null D Y 349 349 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022358 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002343 p null N null 350 350 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001926726 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs747827435 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002344 G null N D 350 350 missense 0.987 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003989143 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs747827435 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002344 G null N D 350 350 missense 0.987 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002923337 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1577541140 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002345 G null N S 350 350 missense 0.975 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV000790382 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772855552 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002347 A null A T 351 351 missense 0.979 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001242541 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715142270 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002348 T null A V 351 351 missense 0.978 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001158194 P35475 IDUA Alpha-L-iduronidase dbSNP rs1378699648 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002338_1002358 p null SY NDNAFLS 354 355 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591999 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715210435 4p16.3 4 1003094 T null W C 355 355 missense 0.811 possibly damaging 0.0 deleterious 1 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022364 4p16.3 4 1002360 C null Y S 355 355 missense 0.218 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577541175 4p16.3 4 1002364 A null H Q 356 356 missense 0.54 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022366 4p16.3 4 1002363 G null H R 356 356 missense 0.058 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715143046 4p16.3 4 1002362 T null H Y 356 356 missense 0.042 benign 0.57 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1375839111 4p16.3 4 1003098 T null R C 357 357 missense 0.86 possibly damaging 0.01 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs918621189 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002366 T null P L 357 357 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003093911 P35475 IDUA Alpha-L-iduronidase dbSNP rs1214495121 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002369_1002389 l null HPFAQRT null 358 364 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673377,ClinVar:RCV005034270 P35475 IDUA Alpha-L-iduronidase dbSNP rs1214495121 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002369_1002389 l null HPFAQRT null 358 364 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002532146 P35475 IDUA Alpha-L-iduronidase dbSNP rs1214495121 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002369_1002389 l null HPFAQRT null 358 364 inframe deletion 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034270 P35475 IDUA Alpha-L-iduronidase dbSNP rs1214495121 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002369_1002389 l null HPFAQRT null 358 364 inframe deletion 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034270 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022373 4p16.3 4 1002369 C null H P 358 358 missense 0.941 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022377 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002373 l null F null 360 360 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001994868 P35475 IDUA Alpha-L-iduronidase Ensembl rs1560548053 4p16.3 4 1002375 G null F C 360 360 missense 0.989 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD,dbSNP rs1715144134 4p16.3 4 1002376 A null F L 360 360 missense 0.377 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1445832880 4p16.3 4 1002374 C null F L 360 360 missense 0.377 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022386 4p16.3 4 1002378 A null A E 361 361 missense 0.003 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6831280 4p16.3 4 1002377 C null A P 361 361 missense 0.209 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6831280 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:8242073 4p16.3 4 1002377 A null A T 361 361 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001526424 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs6831280 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:8242073 4p16.3 4 1002377 A null A T 361 361 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000332794 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089588 4p16.3 4 1002382_1002392 l null Q null 362 362 frameshift 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765231968 4p16.3 4 1002381 T null Q L 362 362 missense 0.988 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765231968 4p16.3 4 1002381 C null Q P 362 362 missense 0.991 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs750496798 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1H/S; loss of activity pubmed:15300847 4p16.3 4 1002383 T null R C 363 363 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673313 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs750496798 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1H/S; loss of activity pubmed:15300847 4p16.3 4 1002383 T null R C 363 363 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs750496798 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [UniProt]: MPS1H/S; loss of activity pubmed:15300847 4p16.3 4 1002383 T null R C 363 363 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001868270 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1416427527 4p16.3 4 1002384 A null R H 363 363 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1416427527 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002384 T null R L 363 363 missense 1.0 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005036673 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1416427527 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002384 T null R L 363 363 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005036673 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1416427527 [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1002384 T null R L 363 363 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005036673 P35475 IDUA Alpha-L-iduronidase dbSNP rs750496798 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002383 A null R S 363 363 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002587627 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022390 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002382GC ] null T null 364 364 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001951202 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1216054018 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002386 G null T A 364 364 missense 0.965 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002039017 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:9391892 4p16.3 4 1002387 T null T M 364 364 missense 0.996 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000984188,ClinVar:RCV005031435 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:9391892 4p16.3 4 1002387 T null T M 364 364 missense 0.996 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000588505 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:9391892 4p16.3 4 1002387 T null T M 364 364 missense 0.996 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012700,ClinVar:RCV005031435 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome pubmed:9391892 4p16.3 4 1002387 T null T M 364 364 missense 0.996 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005031435 P35475 IDUA Alpha-L-iduronidase Ensembl rs1216054018 4p16.3 4 1002386 C null T P 364 364 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965032 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002387 G null T R 364 364 missense 0.993 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002848228 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs527336882 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002389 G null L V 365 365 0.000392465 missense 0.987 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000902904 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022399 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Hurler syndrome 4p16.3 4 1002392_1002395 l null T null 366 366 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001376071 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022399 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Hurler syndrome 4p16.3 4 1002392_1002395 l null T null 366 366 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV003448402 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965024 [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:8328452 pubmed:8328452 4p16.3 4 1002392 C null T P 366 366 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012691 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs121965024 [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:8328452 pubmed:8328452 4p16.3 4 1002392 C null T P 366 366 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022401 4p16.3 4 1002393 G null T S 366 366 missense 0.041 benign 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022407 4p16.3 4 1002396 G null A G 367 367 missense 0.261 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089715 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002395_1002396delin T null A L 367 367 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755012 P35475 IDUA Alpha-L-iduronidase dbSNP rs751547595 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002395 C null A P 367 367 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755087 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs751547595 4p16.3 4 1002395 A null A T 367 367 missense 0.531 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754681846 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002398 T null R C 368 368 missense 0.485 possibly damaging 0.0 deleterious 1 Lymphoid Leukemias From tissue: Bone marrow P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs781149866 4p16.3 4 1002399 A null R H 368 368 missense 0.989 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,gnomAD rs781149866 4p16.3 4 1002399 T null R L 368 368 missense 0.945 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs754681846 4p16.3 4 1002398 A null R S 368 368 missense 0.961 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715147247 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002401 C null F L 369 369 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001319324 P35475 IDUA Alpha-L-iduronidase TOPMed rs1305026752 4p16.3 4 1002402 A null F Y 369 369 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022415 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002404 T null Q * 370 370 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001388618 P35475 IDUA Alpha-L-iduronidase gnomAD rs911374070 4p16.3 4 1002405 C null Q P 370 370 missense 0.98 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs911374070 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002405 G null Q R 370 370 missense 0.828 possibly damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003162111 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs911374070 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002405 G null Q R 370 370 missense 0.828 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003106376 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1475290359 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002408 A null V D 371 371 missense 0.883 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001963989 P35475 IDUA Alpha-L-iduronidase Ensembl rs1553917304 4p16.3 4 1002411 T null N I 372 372 missense 0.48 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917304 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002411 G null N S 372 372 missense 0.513 possibly damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670452 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917304 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002411 G null N S 372 372 missense 0.513 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002532101 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089880 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1002414_1002426 l null N null 373 373 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002310037 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715148258 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002411ACA ] null N null 373 373 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001324272 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs140564189 4p16.3 4 1002414 G null N S 373 373 missense 0.166 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140564189 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002414 C null N T 373 373 missense 0.067 benign 0.07 tolerated 0 IDUA-related disorder ClinVar:RCV003972556 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140564189 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002414 C null N T 373 373 missense 0.067 benign 0.07 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002436237 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs140564189 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002414 C null N T 373 373 missense 0.067 benign 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000970962 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534089920 4p16.3 4 1002417 T null T I 374 374 missense 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs761263557 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002419 T null R C 375 375 missense 0.007 benign 0.05 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003056465 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs761263557 4p16.3 4 1002419 G null R G 375 375 missense 0.036 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs761263557 4p16.3 4 1002419 A null R S 375 375 missense 0.036 benign 0.29 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1038727823 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002423 T null P L 376 376 missense 0.983 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004035043 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1038727823 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002423 T null P L 376 376 missense 0.983 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001321825 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1038727823 4p16.3 4 1002423 A null P Q 376 376 missense 0.987 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,gnomAD rs546808806 4p16.3 4 1002426 T null P L 377 377 0.000196232 missense 0.863 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs776982341 4p16.3 4 1002425 T null P S 377 377 missense 0.381 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1431108477 4p16.3 4 1002430 A null H Q 378 378 missense 0.826 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs773471238 4p16.3 4 1002432 G null V G 379 379 missense 0.994 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1271868719 4p16.3 4 1002431 T null V L 379 379 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1271868719 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002431 A null V M 379 379 missense 0.998 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005099298 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534090058 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002433_1002434 p null Q null 380 380 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755679 P35475 IDUA Alpha-L-iduronidase dbSNP,TOPMed,gnomAD rs1280484403 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002436 T null Q H 380 380 missense 0.079 benign 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003061660 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665646,ClinVar:RCV005046854 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001861745 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005046854 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762903007 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:15300847,pubmed:19396826 4p16.3 4 1002435 G null Q R 380 380 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005046854 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs766503909 4p16.3 4 1002437 G null L V 381 381 missense 0.24 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534090101 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1002441 A null L * 382 382 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002307170 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs751396984 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002443 T null R C 383 383 missense 0.999 probably damaging 0.0 deleterious 0 Adenomas and Adenocarcinomas From tissue: Cortex of adrenal gland P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs751396984 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002443 T null R C 383 383 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003778710 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs751396984 4p16.3 4 1002443 G null R G 383 383 missense 0.991 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754949360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S; 2-3% of normal activity pubmed:12559846,pubmed:7550242 4p16.3 4 1002444 A null R H 383 383 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674420,ClinVar:RCV005046910 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754949360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S; 2-3% of normal activity pubmed:12559846,pubmed:7550242 4p16.3 4 1002444 A null R H 383 383 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754949360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S; 2-3% of normal activity pubmed:12559846,pubmed:7550242 4p16.3 4 1002444 A null R H 383 383 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001233076 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754949360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S; 2-3% of normal activity pubmed:12559846,pubmed:7550242 4p16.3 4 1002444 A null R H 383 383 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005046910 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs754949360 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome, [UniProt]: MPS1S; 2-3% of normal activity pubmed:12559846,pubmed:7550242 4p16.3 4 1002444 A null R H 383 383 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005046910 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs751396984 4p16.3 4 1002443 A null R S 383 383 missense 0.991 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1244370377 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002448 C null K N 384 384 missense 0.988 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001895940 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1553917309 [ClinVar]: Inborn genetic diseases, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1002450 G null P R 385 385 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000671961 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1553917309 [ClinVar]: Inborn genetic diseases, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1002450 G null P R 385 385 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002532119 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1553917309 [ClinVar]: Inborn genetic diseases, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1002450 G null P R 385 385 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752529809 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002449 T null P S 385 385 missense 0.889 possibly damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002628877 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917310 [ClinVar]: Hurler syndrome 4p16.3 4 1002456 C null L P 387 387 missense 0.386 benign 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672057 P35475 IDUA Alpha-L-iduronidase dbSNP rs1577541504 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 l null T null 388 388 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001027958 P35475 IDUA Alpha-L-iduronidase dbSNP rs1577541504 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 l null T null 388 388 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591830 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 A null T K 388 388 missense 0.985 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000597524,ClinVar:RCV005042393 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 A null T K 388 388 missense 0.985 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001249042 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 A null T K 388 388 missense 0.985 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005042393 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 A null T K 388 388 missense 0.985 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005042393 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 T null T M 388 388 missense 0.995 probably damaging 0.02 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674913 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002459 T null T M 388 388 missense 0.995 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001855616 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534090235 4p16.3 4 1002458 C null T P 388 388 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome UniProt:Ref.20 4p16.3 4 1002459 G null T R 388 388 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000592196 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome UniProt:Ref.20 4p16.3 4 1002459 G null T R 388 388 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727896 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome UniProt:Ref.20 4p16.3 4 1002459 G null T R 388 388 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001215791 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715153304 4p16.3 4 1002461 C null A P 389 389 missense 0.024 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715153304 4p16.3 4 1002461 A null A T 389 389 missense 0.321 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022443 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002463 l null M null 390 390 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001894829 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1157083700 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002465 C null M T 390 390 missense 0.868 possibly damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003348734 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1157083700 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002465 C null M T 390 390 missense 0.868 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001992101 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1455637147 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002464 G null M V 390 390 missense 0.933 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001279108 P35475 IDUA Alpha-L-iduronidase ExAC rs748997591 4p16.3 4 1002468 C null G A 391 391 missense 0.29 benign 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1384453950 4p16.3 4 1002467 C null G R 391 391 missense 0.603 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC rs748997591 4p16.3 4 1002468 T null G V 391 391 missense 0.966 probably damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1015414127 4p16.3 4 1002476 A null A T 394 394 missense 0.913 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715240366 4p16.3 4 1003403 T null P L 396 396 missense 0.01 benign 0.75 tolerated 1 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715154882 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002479CTG ] null L null 396 396 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002632293 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1462850727 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002733 G null D E 397 397 missense 0.492 possibly damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001243248 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715155823 4p16.3 4 1002485 A null D N 397 397 missense 0.516 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715176008 4p16.3 4 1002736 C null E D 398 398 missense 0.024 benign 0.33 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715175891 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002734GAG ] null E null 399 399 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003222595 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715175891 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002734GAG ] null E null 399 399 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005430828 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1034769935 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002737 A null E K 399 399 missense 0.018 benign 0.67 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002039870 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1034769935 4p16.3 4 1002737 C null E Q 399 399 missense 0.089 benign 0.44 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1354690186 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002740 T null Q * 400 400 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002238558 P35475 IDUA Alpha-L-iduronidase gnomAD rs1232991942 4p16.3 4 1002744 A null L H 401 401 missense 0.955 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs991612107 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002748 A null W * 402 402 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000671009 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs991612107 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002748 A null W * 402 402 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591770 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012683,ClinVar:RCV000477890,ClinVar:RCV005428992 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 IDUA-related disorder ClinVar:RCV003398488 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002512986 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000384297,ClinVar:RCV005428992 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000477890,ClinVar:RCV001004934 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965019 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder pubmed:11735025,pubmed:1301196,pubmed:4221470 4p16.3 4 1002747 A null W * 402 402 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV000477890 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715176840 [ClinVar]: Hurler syndrome 4p16.3 4 1002749 A null A T 403 403 missense 0.571 possibly damaging 0.21 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001262475 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1253435204 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002750 T null A V 403 403 missense 0.685 possibly damaging 0.28 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001929207 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1340421020 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002752 T null E * 404 404 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667300 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1340421020 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002752 T null E * 404 404 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000781475 P35475 IDUA Alpha-L-iduronidase TOPMed rs1340421020 4p16.3 4 1002752 C null E Q 404 404 missense 0.055 benign 0.38 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715177435 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002756 G null V G 405 405 missense 0.659 possibly damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755010 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534092373 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002755 A null V M 405 405 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002745812 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1275815013 4p16.3 4 1002759 T null S L 406 406 missense 0.007 benign 0.73 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1275815013 4p16.3 4 1002759 G null S W 406 406 missense 0.763 possibly damaging 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534092430 4p16.3 4 1002762_1002778 l null Q null 407 407 frameshift 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715178056 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1002761 T null Q * 407 407 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001263616 P35475 IDUA Alpha-L-iduronidase gnomAD rs1197268850 4p16.3 4 1002762 G null Q R 407 407 missense 0.001 benign 0.69 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1249968766 4p16.3 4 1002764 A null A T 408 408 missense 0.039 benign 0.39 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1438462726 4p16.3 4 1002765 T null A V 408 408 missense 0.268 benign 0.29 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1465083754 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002768 A null G E 409 409 missense 0.019 benign 0.16 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673782 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1465083754 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002768 A null G E 409 409 missense 0.019 benign 0.16 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004629291 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1465083754 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002768 A null G E 409 409 missense 0.019 benign 0.16 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV004948561 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11934801 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:8328452 pubmed:8328452 4p16.3 4 1002767 A null G R 409 409 missense 0.467 possibly damaging 0.06 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012686,ClinVar:RCV000722002 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11934801 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:8328452 pubmed:8328452 4p16.3 4 1002767 A null G R 409 409 missense 0.467 possibly damaging 0.06 tolerated 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs11934801 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H, [ClinVar]: Hurler syndrome pubmed:8328452 pubmed:8328452 4p16.3 4 1002767 A null G R 409 409 missense 0.467 possibly damaging 0.06 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000327434,ClinVar:RCV001402162 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715179164 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002769 p null T null 410 410 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001194418 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs978350437 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002770 C null T P 410 410 missense 0.168 benign 0.24 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003756404 P35475 IDUA Alpha-L-iduronidase gnomAD rs978350437 4p16.3 4 1002770 T null T S 410 410 missense 0.003 benign 0.93 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715180409 4p16.3 4 1002774 C null V A 411 411 missense 0.1 benign 0.72 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715180279 4p16.3 4 1002773 A null V I 411 411 missense 0.015 benign 0.21 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs977003623 4p16.3 4 1002777 C null L P 412 412 missense 0.695 possibly damaging 0.28 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917376 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002772_1002799deli G null DSNHTVGVL null 413 421 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000631452 P35475 IDUA Alpha-L-iduronidase dbSNP rs1168660379 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002780_1002806 l null DSNHTVGVL null 413 421 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003768180 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534092636 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002786 G null N S 415 415 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755013 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1419725967 4p16.3 4 1002789 T null H L 416 416 missense 0.352 benign 0.17 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1419725967 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002789 C null H P 416 416 missense 0.085 benign 0.14 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000694045 P35475 IDUA Alpha-L-iduronidase dbSNP rs1450080299 [ClinVar]: Hurler syndrome 4p16.3 4 1002791_1002817 l null TVGVLASAH null 417 425 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672115 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1464048268 [ClinVar]: Hurler syndrome 4p16.3 4 1002792 A null T K 417 417 missense 0.435 benign 0.03 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000987390 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1464048268 4p16.3 4 1002792 G null T R 417 417 missense 0.176 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1396670168 4p16.3 4 1002797 A null G S 419 419 missense 0.759 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022599 4p16.3 4 1002801 C null V A 420 420 missense 0.067 benign 0.11 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1029767148 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002800 T null V F 420 420 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003091222 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1029767148 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002800 A null V I 420 420 missense 0.597 possibly damaging 0.1 tolerated 0 Plasma Cell Tumors From tissue: Bone marrow P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1029767148 4p16.3 4 1002800 C null V L 420 420 missense 0.097 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022602 4p16.3 4 1002804 C null L P 421 421 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1392555572 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002806 C null A P 422 422 missense 0.299 benign 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001313928 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002482062 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001062380 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002482062 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs931627770 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1S and MPS1H/S; associated in cis with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels pubmed:15300847,pubmed:21394825 4p16.3 4 1002811 A null S R 423 423 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002482062 P35475 IDUA Alpha-L-iduronidase TOPMed rs1273724499 4p16.3 4 1002810 C null S T 423 423 missense 0.121 benign 0.27 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs886043839 4p16.3 4 1002813 A null A D 424 424 missense 0.223 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs752725918 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002812 A null A T 424 424 missense 0.005 benign 0.45 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002491443 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs752725918 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002812 A null A T 424 424 missense 0.005 benign 0.45 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001152715 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs752725918 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002812 A null A T 424 424 missense 0.005 benign 0.45 tolerated 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002491443 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs752725918 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002812 A null A T 424 424 missense 0.005 benign 0.45 tolerated 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002491443 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs886043839 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002813 T null A V 424 424 missense 0.003 benign 1.0 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003294415 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs886043839 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002813 T null A V 424 424 missense 0.003 benign 1.0 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003052741 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022611 4p16.3 4 1002815 G null H D 425 425 missense 0.598 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1294331782 4p16.3 4 1002816 T null H L 425 425 missense 0.598 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1294331782 4p16.3 4 1002816 C null H P 425 425 missense 0.883 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1338561459 4p16.3 4 1002817 G null H Q 425 425 missense 0.834 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1414957958 4p16.3 4 1002818 A null R S 426 426 missense 0.005 benign 0.73 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715184175 4p16.3 4 1002821 G null P A 427 427 missense 0.944 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1445719596 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 1002818_1002824 p null Q null 428 428 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000673692 P35475 IDUA Alpha-L-iduronidase dbSNP rs1445719596 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 1002818_1002824 p null Q null 428 428 frameshift 0 IDUA-related disorder ClinVar:RCV003892522 P35475 IDUA Alpha-L-iduronidase dbSNP rs1445719596 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 1002818_1002824 p null Q null 428 428 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001232855 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534092933 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002824 T null Q * 428 428 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002302453 P35475 IDUA Alpha-L-iduronidase gnomAD rs1251180462 4p16.3 4 1002826 C null Q H 428 428 missense 0.574 possibly damaging 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715184404 4p16.3 4 1002827 A null G S 429 429 missense 0.057 benign 0.19 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1197582697 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002831 T null P L 430 430 missense 0.03 benign 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001894473 P35475 IDUA Alpha-L-iduronidase 1000Genomes,dbSNP,gnomAD rs1340171664 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002830 T null P S 430 430 missense 0.007 benign 0.57 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002097919 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1485492553 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1002836 A null D N 432 432 missense 0.365 benign 0.07 tolerated 0 Plasma Cell Tumors From tissue: Bone marrow P35475 IDUA Alpha-L-iduronidase gnomAD rs1263662112 4p16.3 4 1002840 T null A V 433 433 missense 0.516 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs398123253 4p16.3 4 1002844 C null W C 434 434 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1188900288 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002845 T null R C 435 435 missense 0.86 possibly damaging 0.0 deleterious 0 IDUA-related disorder ClinVar:RCV004750773 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1188900288 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002845 T null R C 435 435 missense 0.86 possibly damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002786003 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1188900288 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002845 T null R C 435 435 missense 0.86 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002786002 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1188900288 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002845 G null R G 435 435 missense 0.179 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001373620 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1036950284 [ClinVar]: Inborn genetic diseases 4p16.3 4 1002846 A null R H 435 435 missense 0.672 possibly damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005587387 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1188900288 4p16.3 4 1002845 A null R S 435 435 missense 0.017 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534093111 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002848 l null A null 436 436 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002833965 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1181180741 4p16.3 4 1002848 A null A T 436 436 missense 0.098 benign 0.2 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1259428940 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002851 C null A P 437 437 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002625772 P35475 IDUA Alpha-L-iduronidase gnomAD rs1192384828 4p16.3 4 1002854 C null V L 438 438 missense 0.237 benign 0.3 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1192384828 4p16.3 4 1002854 A null V M 438 438 missense 0.99 probably damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs763998883 4p16.3 4 1002857 G null L V 439 439 missense 0.379 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534093181 4p16.3 4 1002861 C null I T 440 440 missense 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1463087550 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002865 A null Y * 441 441 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755736,ClinVar:RCV003592577 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715186994 4p16.3 4 1002863 G null Y D 441 441 missense 0.999 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715186994 4p16.3 4 1002863 C null Y H 441 441 missense 0.959 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1417716357 4p16.3 4 1003618 T null G C 442 442 missense 0.757 possibly damaging 0.04 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1170251124 4p16.3 4 1002867 A null A E 442 442 missense 0.694 possibly damaging 0.12 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1170251124 4p16.3 4 1002867 G null A G 442 442 missense 0.04 benign 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1170251124 4p16.3 4 1002867 T null A V 442 442 missense 0.539 possibly damaging 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs753372256 4p16.3 4 1002870 A null S N 443 443 missense 0.766 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534093263 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002868_1002872 p null D null 444 444 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592511 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1316884593 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002873 G null D G 444 444 missense 0.338 benign 0.01 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003274190 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1316884593 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002873 G null D G 444 444 missense 0.338 benign 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003074245 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,gnomAD rs571833399 4p16.3 4 1002872 C null D H 444 444 missense 0.873 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs571833399 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002872 A null D N 444 444 missense 0.027 benign 0.43 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002634112 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs571833399 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002872 A null D N 444 444 missense 0.027 benign 0.43 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002634113 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715188461 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002872_1002874GAC ] null D null 445 445 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001042026 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715189170 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002876 G null D G 445 445 missense 0.95 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755009 P35475 IDUA Alpha-L-iduronidase Ensembl rs978831052 4p16.3 4 1002875 A null D N 445 445 missense 0.499 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,dbSNP,gnomAD rs1295530132 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002879 A null T N 446 446 missense 0.012 benign 0.85 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005099296 P35475 IDUA Alpha-L-iduronidase 1000Genomes,gnomAD rs1295530132 4p16.3 4 1002879 G null T S 446 446 missense 0.129 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs866224971 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002881 T null R C 447 447 missense 0.871 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001244635 P35475 IDUA Alpha-L-iduronidase dbSNP rs1434999845 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002873_1002884 p null RA DDTR 447 448 insertion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003101613 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1230224695 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002882 A null R H 447 447 missense 0.042 benign 0.11 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002387705 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1230224695 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002882 A null R H 447 447 missense 0.042 benign 0.11 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003094998 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs866224971 4p16.3 4 1002881 A null R S 447 447 missense 0.018 benign 0.46 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022646 4p16.3 4 1002885_1002907 l null A null 448 448 frameshift 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs565375837 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002885 A null A D 448 448 missense 0.253 benign 0.03 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003166886 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs565375837 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002885 A null A D 448 448 missense 0.253 benign 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001322956 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs532731688 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder pubmed:21394825 4p16.3 4 1002887 A null H N 449 449 missense 1 IDUA-related disorder ClinVar:RCV003912489 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs532731688 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder pubmed:21394825 4p16.3 4 1002887 A null H N 449 449 missense 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004021975 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs532731688 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder pubmed:21394825 4p16.3 4 1002887 A null H N 449 449 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000340208 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs895626490 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002891 A null P H 450 450 missense 0.602 possibly damaging 0.04 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001270128 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs895626490 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1002891 A null P H 450 450 missense 0.602 possibly damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001152716 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762037549 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004028 A null E K 450 450 missense 0.931 probably damaging 0.02 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001884946 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs895626490 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002891 G null P R 450 450 missense 0.242 benign 0.06 tolerated 0 IDUA-related disorder ClinVar:RCV003965596 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs895626490 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: IDUA-related disorder 4p16.3 4 1002891 G null P R 450 450 missense 0.242 benign 0.06 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000803573 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715190343 4p16.3 4 1002890 T null P S 450 450 missense 0.009 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715190830 [ClinVar]: Inborn genetic diseases 4p16.3 4 1002893 G null N D 451 451 missense 0.413 benign 0.14 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002387957 P35475 IDUA Alpha-L-iduronidase gnomAD rs1487192241 4p16.3 4 1002894 G null N S 451 451 missense 0.033 benign 0.22 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1417680934 4p16.3 4 1002896 T null R C 452 452 missense 0.756 possibly damaging 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs757952110 4p16.3 4 1002897 T null R L 452 452 missense 0.003 benign 0.45 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1417680934 4p16.3 4 1002896 A null R S 452 452 missense 0.009 benign 0.78 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1430278026 4p16.3 4 1002899 G null S G 453 453 missense 0.193 benign 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022656 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002900 A null S N 453 453 missense 0.03 benign 0.12 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001876743 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022658 4p16.3 4 1002901 G null S R 453 453 missense 0.018 benign 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs73066479 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1002902 A null V I 454 454 0.217229 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001543881 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs73066479 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1002902 A null V I 454 454 0.217229 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000390914 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs73066479 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1002902 A null V I 454 454 0.217229 missense 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001543882 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs73066479 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:15300847,pubmed:19396826,pubmed:21394825 4p16.3 4 1002902 A null V I 454 454 0.217229 missense 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV001543883 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022660 4p16.3 4 1002905 A null A T 455 455 missense 0.009 benign 0.68 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534093592 [ClinVar]: Inborn genetic diseases 4p16.3 4 1002906 T null A V 455 455 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003257069 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917418 [ClinVar]: Hurler syndrome 4p16.3 4 1002908_1002931 l null VTLRLRGV null 456 463 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670003 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715192601 4p16.3 4 1002909 C null V A 456 456 missense 0.209 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715192601 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002909 G null V G 456 456 missense 0.883 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001279109 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1358182793 4p16.3 4 1002912 T null G I 457 457 missense 0.027 benign 0.05 deleterious 1 P35475 IDUA Alpha-L-iduronidase 1000Genomes rs2153023180 4p16.3 4 1004052 G null K E 458 458 missense 0.001 benign 0.61 tolerated 1 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715193201 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002918 T null R L 459 459 missense 0.535 possibly damaging 0.18 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001924333 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715193201 4p16.3 4 1002918 A null R Q 459 459 missense 0.162 benign 0.27 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022668 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002917 T null R W 459 459 missense 0.971 probably damaging 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001977240 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1031256595 4p16.3 4 1002923 T null R C 461 461 missense 0.756 possibly damaging 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534093752 4p16.3 4 1002924 A null R H 461 461 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715194056 4p16.3 4 1002927 A null G E 462 462 missense 0.931 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs143621769 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004065 T null P L 462 462 missense 0.001 benign 0.12 tolerated 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002125314 P35475 IDUA Alpha-L-iduronidase TOPMed rs1047106374 4p16.3 4 1002926 A null G R 462 462 missense 0.953 probably damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,TOPMed,gnomAD rs1715194225 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002929 T null V L 463 463 missense 0.012 benign 0.78 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592458 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715194225 4p16.3 4 1002929 A null V M 463 463 missense 0.382 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs888528622 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002932 G null P A 464 464 missense 0.067 benign 0.11 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004988976 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs888528622 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002932 G null P A 464 464 missense 0.067 benign 0.11 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001953176 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs989669026 4p16.3 4 1002933 A null P H 464 464 missense 0.939 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs989669026 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1002933 T null P L 464 464 missense 0.659 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003076096 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs888528622 4p16.3 4 1002932 T null P S 464 464 missense 0.067 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1386109118 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002937 l null G null 466 466 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003992434,ClinVar:RCV005036336 P35475 IDUA Alpha-L-iduronidase dbSNP rs1386109118 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002937 l null G null 466 466 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005036336 P35475 IDUA Alpha-L-iduronidase dbSNP rs1386109118 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002937 l null G null 466 466 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005036336 P35475 IDUA Alpha-L-iduronidase dbSNP rs1386109118 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1002937 l null G null 466 466 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001048633,ClinVar:RCV001194417 P35475 IDUA Alpha-L-iduronidase TOPMed rs1351013885 4p16.3 4 1002938 C null G R 466 466 missense 0.045 benign 0.39 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153023199 4p16.3 4 1004077 C null K T 466 466 missense 0.204 benign 0.11 tolerated 1 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1322621176 4p16.3 4 1002939 T null G V 466 466 missense 0.267 benign 0.52 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1235034364 4p16.3 4 1002942 T null P L 467 467 missense 0.007 benign 0.3 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1228627906 4p16.3 4 1002941 T null P S 467 467 missense 0.009 benign 0.55 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs867456178 4p16.3 4 1004083 T null S L 468 468 missense 0.012 benign 0.14 tolerated 1 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715197110 4p16.3 4 1002944 C null G R 468 468 missense 0.793 possibly damaging 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1163173210 4p16.3 4 1003041 A null V I 470 470 missense 0.365 benign 0.05 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715204964 4p16.3 4 1003045 G null Y C 471 471 missense 0.957 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs756611577 4p16.3 4 1003047 C null V L 472 472 missense 0.469 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1161506466 4p16.3 4 1003050 T null T S 473 473 missense 0.2 benign 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715205788 4p16.3 4 1003053 T null R C 474 474 missense 0.007 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715205920 4p16.3 4 1003054 C null R P 474 474 missense 0.219 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs761793564 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003055_1003056 p null Y null 475 475 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670111 P35475 IDUA Alpha-L-iduronidase dbSNP rs761793564 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003055_1003056 p null Y null 475 475 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001061720 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715206225 4p16.3 4 1003057 C null Y S 475 475 missense 0.365 benign 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917455 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003057_1003059 l null Y null 475 475 inframe deletion 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669732 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917455 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003057_1003059 l null Y null 475 475 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001855526 P35475 IDUA Alpha-L-iduronidase gnomAD rs1461488250 4p16.3 4 1003060 A null L Q 476 476 missense 0.966 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715206674 4p16.3 4 1003059 G null L V 476 476 missense 0.144 benign 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs749645656 4p16.3 4 1003063 G null D G 477 477 missense 0.983 probably damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs771243291 4p16.3 4 1003065 G null N D 478 478 missense 0.668 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs779159727 4p16.3 4 1003067 A null N K 478 478 missense 0.923 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs772217218 4p16.3 4 1003069 A null G E 479 479 missense 0.009 benign 0.5 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,ExAC,TOPMed,gnomAD rs746110764 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003068 C null G R 479 479 missense 0.003 benign 0.41 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003835064 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs775712593 4p16.3 4 1003072 G null L R 480 480 missense 0.059 benign 0.33 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs768622424 4p16.3 4 1003074 C null C R 481 481 missense 0.236 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776480687 4p16.3 4 1003077 G null S G 482 482 missense 0.023 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1484510282 4p16.3 4 1003078 A null S N 482 482 missense 0.003 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1484510282 4p16.3 4 1003078 C null S T 482 482 missense 0.348 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715208911 4p16.3 4 1003080 T null P S 483 483 missense 0.996 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715208911 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003080 A null P T 483 483 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755158 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs750034223 4p16.3 4 1003084 C null D A 484 484 missense 0.009 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs4690224 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003085 A null D E 484 484 0.000392465 missense 0.003 benign 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001153994 P35475 IDUA Alpha-L-iduronidase gnomAD rs1475737659 4p16.3 4 1003083 C null D H 484 484 missense 0.003 benign 0.23 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1475737659 [ClinVar]: Inborn genetic diseases 4p16.3 4 1003083 A null D N 484 484 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003386436 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs750034223 4p16.3 4 1003084 T null D V 484 484 missense 0.079 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1475737659 4p16.3 4 1003083 T null D Y 484 484 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1428027230 4p16.3 4 1003086 A null G S 485 485 missense 0.011 benign 0.79 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1356329915 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1003089 T null E * 486 486 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005253138 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1356329915 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1003089 T null E * 486 486 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000806468 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1356329915 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1003089 T null E * 486 486 missense 1 Squamous Cell Neoplasms From tissue: Floor of mouth, NOS P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715210435 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1003094 A null W * 487 487 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV001263617 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715210316 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003093 T null W L 487 487 missense 0.991 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001245515 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs75427046 4p16.3 4 1003096 C null R P 488 488 missense 0.376 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs75427046 4p16.3 4 1003096 A null R Q 488 488 missense 0.005 benign 0.94 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs868460406 4p16.3 4 1003095 T null R W 488 488 missense 0.806 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1004292 T null R * 489 489 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012692,ClinVar:RCV002496329 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1004292 T null R * 489 489 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000780350 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1004292 T null R * 489 489 missense 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002496329 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:7951228 4p16.3 4 1004292 T null R * 489 489 missense 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002496329 P35475 IDUA Alpha-L-iduronidase gnomAD rs1416328981 4p16.3 4 1003099 A null R H 489 489 missense 0.015 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1416328981 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:7951228 4p16.3 4 1003099 C null R P 489 489 missense 0.369 benign 0.05 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002041304 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1416328981 [UniProt]: MPS1H, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:7951228 4p16.3 4 1003099 C null R P 489 489 missense 0.369 benign 0.05 tolerated 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase gnomAD rs1375839111 4p16.3 4 1003098 A null R S 489 489 missense 0.014 benign 0.63 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965027 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003102 C null L P 490 490 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000173657 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965027 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003102 C null L P 490 490 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965027 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003102 C null L P 490 490 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965027 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003102 C null L P 490 490 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001204340 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs121965027 [UniProt]: MPS1H/S and MPS1S, [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003102 C null L P 490 490 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012694 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,gnomAD rs375422485 4p16.3 4 1004296 T null A V 490 490 missense 0.809 possibly damaging 0.03 deleterious 1 P35475 IDUA Alpha-L-iduronidase gnomAD rs1215060252 4p16.3 4 1003105 A null G D 491 491 missense 0.796 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs778314567 4p16.3 4 1003107 G null R G 492 492 missense 0.261 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003108 T null R L 492 492 missense 0.102 benign 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003013723 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715311906 4p16.3 4 1004301 A null D N 492 492 missense 0.767 possibly damaging 0.04 deleterious 1 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003108 C null R P 492 492 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV004795397 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003108 C null R P 492 492 missense 0 Mucopolysaccharidosis 1S (MPS1S) A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding. MIM:607016 pubmed:12559846,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:25256405,pubmed:7550232,pubmed:7550242,pubmed:8213840 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003108 C null R P 492 492 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001851808 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003108 C null R P 492 492 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV004795397 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs121965026 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1S pubmed:21394825,pubmed:7550232 pubmed:7550232 4p16.3 4 1003108 C null R P 492 492 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV000012693,ClinVar:RCV004795397 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs121965026 4p16.3 4 1003108 A null R Q 492 492 missense 0.065 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs778314567 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003107 T null R W 492 492 missense 0.908 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001967146 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003111 T null P L 493 493 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003070231 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003111 G null P R 493 493 missense 0.995 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002482011,ClinVar:RCV003992435 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003111 G null P R 493 493 missense 0.995 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002553808 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003111 G null P R 493 493 missense 0.995 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001056126 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003111 G null P R 493 493 missense 0.995 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002482011 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,dbSNP,gnomAD rs375819348 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003111 G null P R 493 493 missense 0.995 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002482011 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs894585162 4p16.3 4 1003110 T null P S 493 493 missense 0.996 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs894585162 [ClinVar]: Hurler syndrome 4p16.3 4 1003110 A null P T 493 493 missense 0.997 probably damaging 0.06 tolerated 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001334307 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1456090810 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004308 A null W * 494 494 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002497675 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1456090810 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004308 A null W * 494 494 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001193755 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1456090810 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004308 A null W * 494 494 missense 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002497675 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1456090810 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004308 A null W * 494 494 missense 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002497675 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs779154524 4p16.3 4 1003114 C null V A 494 494 missense 0.015 benign 0.89 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715213103 4p16.3 4 1003113 A null V I 494 494 missense 0.079 benign 0.36 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746018077 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003118 A null F L 495 495 missense 0.818 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003069539 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534095371 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003116 C null F L 495 495 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002304338 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:7550232 4p16.3 4 1003120 T null P L 496 496 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000666799 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:7550232 4p16.3 4 1003120 T null P L 496 496 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:7550232 4p16.3 4 1003120 T null P L 496 496 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002530697 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1003120 G null P R 496 496 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000592777,ClinVar:RCV005044877 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1003120 G null P R 496 496 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1003120 G null P R 496 496 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000780349 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1003120 G null P R 496 496 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005044877 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs772416503 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:21394825 4p16.3 4 1003120 G null P R 496 496 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005044877 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534095408 4p16.3 4 1003119 T null P S 496 496 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1395863303 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003122 G null T A 497 497 missense 0.433 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002625747 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1436395282 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003123 A null T K 497 497 missense 0.728 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002049600 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1436395282 4p16.3 4 1003123 T null T M 497 497 missense 0.913 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1344365380 4p16.3 4 1003125 A null A T 498 498 missense 0.261 benign 0.47 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1457998518 4p16.3 4 1003126 T null A V 498 498 missense 0.027 benign 0.4 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022799 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003127AG ] null E null 499 499 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001824224 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022799 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003127AG ] null E null 499 499 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002542757 P35475 IDUA Alpha-L-iduronidase gnomAD rs1431468883 4p16.3 4 1003129 G null E G 499 499 missense 0.015 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1290558249 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003131 T null Q * 500 500 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001953583 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1290558249 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003131 G null Q E 500 500 missense 0.024 benign 0.09 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003079832 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1715216061 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003132 G null Q R 500 500 missense 0.659 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001882889 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1232852509 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003136 A null F L 501 501 missense 0.293 benign 0.12 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002582572 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs776590488 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003134 C null F L 501 501 missense 0.293 benign 0.12 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001276019 P35475 IDUA Alpha-L-iduronidase dbSNP rs769566506 4p16.3 4 1003138 C null R P 502 502 missense 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs769566506 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003138 A null R Q 502 502 missense 0.048 benign 0.44 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001898740 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs570594115 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003137 T null R W 502 502 0.000196232 missense 0.956 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002971449 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1047330206 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003140 T null R C 503 503 missense 0.908 possibly damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002619387 P35475 IDUA Alpha-L-iduronidase gnomAD rs1047330206 4p16.3 4 1003140 A null R S 503 503 missense 0.079 benign 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534095558 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003142_1003144 l null M null 504 504 inframe deletion 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755047 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715218377 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003146 G null R G 505 505 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001995767 P35475 IDUA Alpha-L-iduronidase TOPMed rs953119686 4p16.3 4 1003150 G null A G 506 506 missense 0.349 benign 0.41 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917764 [ClinVar]: Hurler syndrome 4p16.3 4 1004349 T null E * 508 508 missense 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000674612 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577543233 4p16.3 4 1003156 G null E G 508 508 missense 0.971 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022883 4p16.3 4 1003346 C null D A 509 509 missense 0.904 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1240387454 4p16.3 4 1003345 A null D N 509 509 missense 0.977 probably damaging 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727017 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003349 T null P L 510 510 missense 0.904 possibly damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001340242 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs794727017 4p16.3 4 1003349 G null P R 510 510 missense 0.984 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1379718691 [ClinVar]: Inborn genetic diseases 4p16.3 4 1004355 T null P S 510 510 missense 0.0 unknown 0.08 tolerated - low confidence 1 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002830858 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097073 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003349 p null V null 511 511 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755790 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715235522 4p16.3 4 1003352 C null V A 511 511 missense 0.015 benign 0.23 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715235522 4p16.3 4 1003352 A null V E 511 511 missense 0.124 benign 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022891 4p16.3 4 1003355 G null A G 512 512 missense 0.306 benign 0.26 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1165554910 4p16.3 4 1003354 A null A T 512 512 missense 0.031 benign 0.47 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1327789436 4p16.3 4 1003358 G null A G 513 513 missense 0.003 benign 0.34 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715235369 4p16.3 4 1003360_1003361insGGCGCGTGGCCG G null AA GRVAA 513 514 insertion 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097175 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003357_1003358delin T null A L 513 513 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002597023 P35475 IDUA Alpha-L-iduronidase gnomAD rs1407653417 4p16.3 4 1003357 T null A S 513 513 missense 0.007 benign 0.76 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1327789436 4p16.3 4 1003358 T null A V 513 513 missense 0.001 benign 0.37 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715236668 4p16.3 4 1003364 G null P R 515 515 missense 0.999 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097230 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003363 T null P S 515 515 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003002128 P35475 IDUA Alpha-L-iduronidase gnomAD rs1445443102 4p16.3 4 1004370 T null P S 515 515 missense 0.0 unknown 0.19 tolerated - low confidence 1 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022895 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003366 p null R null 516 516 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002037654 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs998149798 4p16.3 4 1003366 T null R C 516 516 missense 0.799 possibly damaging 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs953150250 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003367 A null R H 516 516 missense 0.055 benign 0.54 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002584383 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs953150250 4p16.3 4 1003367 C null R P 516 516 missense 0.365 benign 0.21 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1051249739 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003370 T null P L 517 517 missense 0.096 benign 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001973956 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1051249739 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003370 G null P R 517 517 missense 0.855 possibly damaging 0.02 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002648059 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1051249739 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003370 G null P R 517 517 missense 0.855 possibly damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002648060 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097292 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1003371 l null L null 518 518 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002309714 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022899 4p16.3 4 1003374 C null L F 518 518 missense 0.003 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1233286072 4p16.3 4 1003376 A null P H 519 519 missense 0.995 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715237631 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003381_1003390 l null AG * 520 521 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001066248 P35475 IDUA Alpha-L-iduronidase dbSNP rs1274282916 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003378 C null A P 520 520 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002785809 P35475 IDUA Alpha-L-iduronidase gnomAD rs1274282916 4p16.3 4 1003378 T null A S 520 520 missense 0.012 benign 0.66 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,gnomAD rs1358581212 4p16.3 4 1003381 T null G C 521 521 missense 0.813 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1194102531 4p16.3 4 1003382 A null G D 521 521 missense 0.003 benign 0.37 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs1358581212 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003381 A null G S 521 521 missense 0.005 benign 0.46 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004985280 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs1358581212 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003381 A null G S 521 521 missense 0.005 benign 0.46 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003112112 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153022904 4p16.3 4 1003385 C null G A 522 522 missense 0.485 possibly damaging 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1009855015 4p16.3 4 1003387 T null R C 523 523 missense 0.764 possibly damaging 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1018687587 4p16.3 4 1003388 A null R H 523 523 missense 0.012 benign 0.2 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1018687587 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003388 T null R L 523 523 missense 0.007 benign 0.34 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002751514 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715239113 4p16.3 4 1003394 T null T I 525 525 missense 0.045 benign 0.21 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781136336 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003397 C null L P 526 526 missense 0.975 probably damaging 0.02 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005034293 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781136336 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003397 C null L P 526 526 missense 0.975 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000687687 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781136336 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003397 C null L P 526 526 missense 0.975 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002289960,ClinVar:RCV005034293 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs781136336 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003397 C null L P 526 526 missense 0.975 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034293 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs781136336 4p16.3 4 1003397 G null L R 526 526 missense 0.935 probably damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1255221712 4p16.3 4 1003396 G null L V 526 526 missense 0.253 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1188583278 4p16.3 4 1003399 T null R C 527 527 missense 0.826 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1370066688 4p16.3 4 1003400 A null R H 527 527 missense 0.007 benign 0.17 tolerated 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs199722340 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003402 G null P A 528 528 0.00961538 missense 0.005 benign 0.69 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001083199 P35475 IDUA Alpha-L-iduronidase TOPMed rs1173299085 4p16.3 4 1003406 G null A G 529 529 missense 0.083 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1173299085 4p16.3 4 1003406 T null A V 529 529 missense 0.169 benign 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097623 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003405GC ] null L null 530 530 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002651790 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs749053703 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003408 A null L M 530 530 missense 0.866 possibly damaging 0.03 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001247064 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097702 4p16.3 4 1003409 G null L R 530 530 missense 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs749053703 4p16.3 4 1003408 G null L V 530 530 missense 0.809 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917558 [ClinVar]: Hurler syndrome 4p16.3 4 1003411 l null R null 531 531 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672150 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs920228043 4p16.3 4 1003412 T null R L 531 531 missense 0.001 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs920228043 4p16.3 4 1003412 C null R P 531 531 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs920228043 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1003412 A null R Q 531 531 missense 0.24 benign 0.31 tolerated 1 Adenomas and Adenocarcinomas From tissue: Colon, NOS P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs920228043 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1003412 A null R Q 531 531 missense 0.24 benign 0.31 tolerated 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003061664 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1374035336 4p16.3 4 1003415 C null L P 532 532 missense 0.919 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1374035336 4p16.3 4 1003415 G null L R 532 532 missense 0.242 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1310696629 4p16.3 4 1003414 G null L V 532 532 missense 0.024 benign 0.86 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022916 4p16.3 4 1003409_1003416 p null P null 533 533 frameshift 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,gnomAD rs374779600 4p16.3 4 1003417 G null P A 533 533 missense 1.0 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003418 T null P L 533 533 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001249043 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003418 A null P Q 533 533 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002722150 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012685,ClinVar:RCV000763533 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267070 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208595 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000763533 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965021 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [UniProt]: MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability, [ClinVar]: Hurler syndrome pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:21394825,pubmed:24036510 pubmed:10738517,pubmed:1301941 4p16.3 4 1003418 G null P R 533 533 missense 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV000763533,ClinVar:RCV004595880 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs374779600 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003417 T null P S 533 533 missense 1.0 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002629834 P35475 IDUA Alpha-L-iduronidase 1000Genomes,TOPMed,dbSNP,gnomAD rs374779600 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003417 A null P T 533 533 missense 1.0 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001993984 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715243300 4p16.3 4 1003421 T null S L 534 534 missense 0.969 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917566 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1003422 l null L null 535 535 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000667780,ClinVar:RCV005046875 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917566 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1003422 l null L null 535 535 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001244712 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917566 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1003422 l null L null 535 535 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005046875 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917566 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Hurler syndrome 4p16.3 4 1003422 l null L null 535 535 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005046875 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1577543849 [UniProt]: MPS1H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:21394825 4p16.3 4 1003423 T null L F 535 535 missense 0.935 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005036125 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1577543849 [UniProt]: MPS1H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:21394825 4p16.3 4 1003423 T null L F 535 535 missense 0.935 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000790542 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1577543849 [UniProt]: MPS1H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:21394825 4p16.3 4 1003423 T null L F 535 535 missense 0.935 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005036125 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1577543849 [UniProt]: MPS1H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:21394825 4p16.3 4 1003423 T null L F 535 535 missense 0.935 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005036125 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1577543849 [UniProt]: MPS1H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S pubmed:21394825 4p16.3 4 1003423 T null L F 535 535 missense 0.935 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase TOPMed rs1577543849 4p16.3 4 1003423 G null L V 535 535 missense 0.046 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534097946 4p16.3 4 1003433 G null V G 538 538 missense 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715243997 4p16.3 4 1003432 A null V M 538 538 missense 0.752 possibly damaging 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503967 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8213840 4p16.3 4 1003434 l null H null 539 539 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000173986,ClinVar:RCV002498729 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503967 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8213840 4p16.3 4 1003434 l null H null 539 539 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248893 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503967 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8213840 4p16.3 4 1003434 l null H null 539 539 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002498729 P35475 IDUA Alpha-L-iduronidase dbSNP rs727503967 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8213840 4p16.3 4 1003434 l null H null 539 539 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002498729 P35475 IDUA Alpha-L-iduronidase Ensembl rs1355393438 4p16.3 4 1003436 T null H L 539 539 missense 0.945 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs766982215 4p16.3 4 1003435 T null H Y 539 539 missense 0.99 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1485233630 4p16.3 4 1003439 G null V G 540 540 missense 0.935 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577543889 4p16.3 4 1003438 T null V L 540 540 missense 0.044 benign 0.29 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022938 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003443 A null C * 541 541 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001868861 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs950213013 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003442 T null C F 541 541 missense 1.0 probably damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002540401 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534098043 4p16.3 4 1003441 C null C R 541 541 missense 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1553917571 4p16.3 4 1003445 G null A G 542 542 missense 0.554 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534098120 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003448 A null R H 543 543 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002811769 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP rs1715245511 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003447 A null R S 543 543 missense 0.398 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002609225 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153022944 4p16.3 4 1003453 l null E null 545 545 frameshift 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1257968688 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003453 A null E K 545 545 missense 0.003 benign 1.0 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001343993 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765815271 4p16.3 4 1003460 T null P L 547 547 missense 0.131 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs765815271 4p16.3 4 1003460 A null P Q 547 547 missense 0.143 benign 0.11 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022950 4p16.3 4 1003463 T null P L 548 548 missense 0.06 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715246622 4p16.3 4 1003462 A null P T 548 548 missense 0.546 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534098627 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003466_1003467 l null G null 549 549 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592066 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs766871749 4p16.3 4 1003465 A null G R 549 549 missense 0.532 possibly damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1171379194 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003466 T null G V 549 549 missense 0.532 possibly damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002538859 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534098579 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S 4p16.3 4 1003464 l null Q null 550 550 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002306923 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022958 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003468 T null Q * 550 550 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001868862 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715247320 4p16.3 4 1003470 C null Q H 550 550 missense 0.728 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1394053061 4p16.3 4 1003469 T null Q L 550 550 missense 0.033 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534099296 [ClinVar]: Hurler syndrome 4p16.3 4 1003550 A null V D 551 551 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003985057 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs778877259 4p16.3 4 1003549 A null V I 551 551 missense 0.54 possibly damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs778877259 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003549 C null V L 551 551 missense 0.752 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001920286 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs745630845 4p16.3 4 1003552 T null T S 552 552 missense 0.015 benign 0.17 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs150008131 4p16.3 4 1003555 G null R G 553 553 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746698197 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003556 T null R L 553 553 missense 0.155 benign 0.07 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002776082 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs150008131 4p16.3 4 1003555 T null R W 553 553 missense 0.809 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153022999 4p16.3 4 1003558 G null L V 554 554 missense 0.049 benign 0.76 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776276938 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003562 A null R H 555 555 missense 0.098 benign 0.11 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003079052 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs771540729 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003564 C null A P 556 556 missense 0.467 possibly damaging 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002013985 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs771540729 4p16.3 4 1003564 T null A S 556 556 missense 0.109 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs771540729 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003564 A null A T 556 556 missense 0.059 benign 0.12 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003084696 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs774960712 4p16.3 4 1003565 T null A V 556 556 missense 0.003 benign 0.84 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023010 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003568 A null L Q 557 557 missense 0.833 possibly damaging 0.1 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002028763 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1027324399 4p16.3 4 1003570 G null P A 558 558 missense 0.143 benign 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs759777644 4p16.3 4 1003571 A null P H 558 558 missense 0.825 possibly damaging 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs759777644 4p16.3 4 1003571 T null P L 558 558 missense 0.039 benign 0.09 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1027324399 4p16.3 4 1003570 T null P S 558 558 missense 0.039 benign 0.31 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534099489 4p16.3 4 1003574 G null L R 559 559 missense 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715257303 4p16.3 4 1003573 G null L V 559 559 missense 0.02 benign 0.54 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs773249605 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003577 T null T I 560 560 missense 0.953 probably damaging 0.02 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755077 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs773249605 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003577 A null T N 560 560 missense 0.966 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001065346 P35475 IDUA Alpha-L-iduronidase gnomAD rs1391011315 4p16.3 4 1003576 C null T P 560 560 missense 0.966 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs773249605 4p16.3 4 1003577 G null T S 560 560 missense 0.549 possibly damaging 0.11 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752800292 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1003579 T null Q * 561 561 missense 1 Adenomas and Adenocarcinomas From tissue: Upper lobe, lung P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs752800292 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; HIGH impact. 4p16.3 4 1003579 T null Q * 561 561 missense 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001387945 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs752800292 4p16.3 4 1003579 G null Q E 561 561 missense 0.006 benign 0.18 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs752800292 4p16.3 4 1003579 A null Q K 561 561 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1221953069 4p16.3 4 1003580 G null Q R 561 561 missense 0.0 benign 0.63 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1313971947 4p16.3 4 1003583 A null G E 562 562 missense 0.812 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715258503 4p16.3 4 1003582 C null G R 562 562 missense 0.926 probably damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1577544315 4p16.3 4 1003587 C null Q H 563 563 missense 0.091 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534099634 [ClinVar]: Inborn genetic diseases 4p16.3 4 1003589 C null L P 564 564 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003383796 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371671953 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003592 C null V A 565 565 missense 0.0 benign 0.16 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003070797 P35475 IDUA Alpha-L-iduronidase gnomAD rs1231384581 4p16.3 4 1003591 T null V F 565 565 missense 0.061 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1231384581 4p16.3 4 1003591 A null V I 565 565 missense 0.001 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1220371654 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003593_1003603 l null L null 566 566 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001068754 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715260008 4p16.3 4 1003595 C null L P 566 566 missense 0.949 probably damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1715260293 4p16.3 4 1003598 A null V D 567 567 missense 0.51 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1278919048 4p16.3 4 1003603 C null S P 569 569 missense 0.881 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs753905054 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003607 G null D G 570 570 missense 0.996 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003778708 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917627 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003606 C null D H 570 570 missense 0.934 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000666323,ClinVar:RCV005034241 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917627 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003606 C null D H 570 570 missense 0.934 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002530678 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917627 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003606 C null D H 570 570 missense 0.934 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034241 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917627 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1003606 C null D H 570 570 missense 0.934 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034241 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs753905054 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003607 T null D V 570 570 missense 0.997 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002761384 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534099760 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003611 l null E null 571 571 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002815878 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1253075699 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003614 G null H Q 572 572 missense 0.048 benign 0.29 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001948555 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs757379402 4p16.3 4 1003613 G null H R 572 572 missense 0.0 benign 0.41 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs146588560 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003615 T null V L 573 573 missense 0.078 benign 0.05 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001308106 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs146588560 4p16.3 4 1003615 A null V M 573 573 missense 0.939 probably damaging 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715262165 4p16.3 4 1003619 A null G D 574 574 missense 0.001 benign 0.44 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1417716357 [ClinVar]: Inborn genetic diseases 4p16.3 4 1003618 C null G R 574 574 missense 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV003182047 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1715262626 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1003622 T null S F 575 575 missense 0.722 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002775636 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715262626 4p16.3 4 1003622 A null S Y 575 575 missense 0.793 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534102276 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004021 A null W * 579 579 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755699 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776787370 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004027 G null Y * 581 581 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665761 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs776787370 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004027 G null Y * 581 581 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001214746 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534102302 4p16.3 4 1004029 C null E A 582 582 missense 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1240528220 4p16.3 4 1004030 C null E D 582 582 missense 0.269 benign 0.05 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715290919 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004034 T null Q * 584 584 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001049477 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs773337787 4p16.3 4 1004036 C null Q H 584 584 missense 0.589 possibly damaging 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,gnomAD rs141304503 4p16.3 4 1004035 G null Q R 584 584 missense 0.117 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715291355 4p16.3 4 1004037 G null F V 585 585 missense 0.905 possibly damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,dbSNP,gnomAD rs187833337 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004041 T null S F 586 586 0.000784929 missense 0.867 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000693168 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715291688 4p16.3 4 1004040 C null S P 586 586 missense 0.878 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534102386 [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 1004043 T null Q * 587 587 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV003991057 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534102386 [ClinVar]: Hurler syndrome, [ClinVar]: IDUA-related disorder 4p16.3 4 1004043 T null Q * 587 587 stop gained 0 IDUA-related disorder ClinVar:RCV003412415 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715292284 4p16.3 4 1004045 C null Q H 587 587 missense 0.185 benign 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1436766935 4p16.3 4 1004044 G null Q R 587 587 missense 0.001 benign 0.38 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs552520598 4p16.3 4 1004047 G null D G 588 588 missense 0.01 benign 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1439796210 4p16.3 4 1004046 A null D N 588 588 missense 0.012 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715293163 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004050 l null G null 589 589 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001206408 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144941693 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004049 T null G C 589 589 0.000392465 missense 0.042 benign 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002526990 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs144941693 4p16.3 4 1004049 C null G R 589 589 0.000392465 missense 0.479 possibly damaging 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144941693 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004049 A null G S 589 589 0.000392465 missense 0.012 benign 0.17 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002567934 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs144941693 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004049 A null G S 589 589 0.000392465 missense 0.012 benign 0.17 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001239460 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs398123257 [ClinVar]: Mucopolysaccharidosis type 1 pubmed:21394825 4p16.3 4 1004055 A null A T 591 591 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001854378 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs138826105 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004056 T null A V 591 591 missense 0.0 benign 0.32 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002518880 P35475 IDUA Alpha-L-iduronidase Ensembl rs2153023189 4p16.3 4 1004062 T null T I 593 593 missense 0.006 benign 0.22 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1577545264 4p16.3 4 1004064 G null P A 594 594 missense 0.021 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs143621769 4p16.3 4 1004065 A null P Q 594 594 missense 0.005 benign 0.16 tolerated 0 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,gnomAD rs143621769 4p16.3 4 1004065 G null P R 594 594 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534102608 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004068 G null V G 595 595 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003040683 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs955174168 4p16.3 4 1004067 A null V I 595 595 missense 0.003 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs955174168 4p16.3 4 1004067 C null V L 595 595 missense 0.077 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1376217874 4p16.3 4 1004070 T null S C 596 596 missense 0.618 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1376217874 4p16.3 4 1004070 G null S G 596 596 missense 0.054 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1715295751 4p16.3 4 1004071 A null S N 596 596 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs770035538 [ClinVar]: Inborn genetic diseases 4p16.3 4 1004078 C null K N 598 598 missense 0.03 benign 0.24 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002733688 P35475 IDUA Alpha-L-iduronidase dbSNP rs398123258 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004083 l null PS * 599 600 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000588926 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs773345479 4p16.3 4 1004079 T null P S 599 599 missense 0.054 benign 0.07 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs867456178 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004083 A null S * 600 600 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001380386 P35475 IDUA Alpha-L-iduronidase dbSNP rs867456178 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004083 G null S W 600 600 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002620892 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs200089576 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004086 T null T I 601 601 missense 0.005 benign 1.0 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002409401 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs200089576 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004086 T null T I 601 601 missense 0.005 benign 1.0 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001043254 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715297105 4p16.3 4 1004091 G null N D 603 603 missense 0.487 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153023208 4p16.3 4 1004093 A null N K 603 603 missense 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1159689681 4p16.3 4 1004092 G null N S 603 603 missense 0.189 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1159689681 4p16.3 4 1004092 C null N T 603 603 missense 0.015 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715297393 4p16.3 4 1004094 T null L F 604 604 missense 0.449 possibly damaging 0.34 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715297658 4p16.3 4 1004097 C null F L 605 605 missense 0.017 benign 0.11 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153023210 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004099 p null V null 606 606 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005031998 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153023210 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004099 p null V null 606 606 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001939406 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153023210 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004099 p null V null 606 606 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005031998 P35475 IDUA Alpha-L-iduronidase dbSNP rs2153023210 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004099 p null V null 606 606 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005031998 P35475 IDUA Alpha-L-iduronidase gnomAD rs1351296741 4p16.3 4 1004101 C null V A 606 606 missense 0.043 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs547144863 4p16.3 4 1004100 T null V L 606 606 0.000196232 missense 0.026 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1229551113 4p16.3 4 1004112 C null D H 610 610 missense 0.223 benign 0.06 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1229551113 4p16.3 4 1004112 T null D Y 610 610 missense 0.37 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917735 [ClinVar]: Hurler syndrome 4p16.3 4 1004261CA ] null T null 611 611 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670240 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs772313310 4p16.3 4 1004262 G null T A 611 611 missense 0.034 benign 0.34 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1011799659 4p16.3 4 1004263 T null T I 611 611 missense 0.281 benign 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1011799659 4p16.3 4 1004263 G null T R 611 611 missense 0.192 benign 0.36 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1230867680 4p16.3 4 1004266 A null G D 612 612 missense 0.024 benign 0.49 tolerated 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1343199533 4p16.3 4 1004265 A null G S 612 612 missense 0.003 benign 0.65 tolerated 0 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs553282198 4p16.3 4 1004268 A null A T 613 613 missense 0.001 benign 0.55 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs780813368 [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1004269 T null A V 613 613 missense 0.0 benign 0.37 tolerated 1 Adenomas and Adenocarcinomas From tissue: Endometrium P35475 IDUA Alpha-L-iduronidase gnomAD rs1318639778 4p16.3 4 1004272 A null V D 614 614 missense 0.704 possibly damaging 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1021807484 4p16.3 4 1004271 A null V I 614 614 missense 0.078 benign 0.04 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1021807484 4p16.3 4 1004271 C null V L 614 614 missense 0.189 benign 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase gnomAD rs1200975020 4p16.3 4 1004275 G null S C 615 615 missense 0.811 possibly damaging 0.13 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917737 [ClinVar]: Hurler syndrome 4p16.3 4 1004276_1004277 l null G null 616 616 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672238 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746936485 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004285 A null Y * 618 618 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670523 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs746936485 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004285 A null Y * 618 618 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591769 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004286 T null R * 619 619 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000337972,ClinVar:RCV005044523 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004286 T null R * 619 619 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000780351 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004286 T null R * 619 619 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005044523 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004286 T null R * 619 619 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005044523 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S; 1.5% of normal activity, [ClinVar]: Hurler syndrome pubmed:10466419 pubmed:10466419 4p16.3 4 1004286 G null R G 619 619 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000666715 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S; 1.5% of normal activity, [ClinVar]: Hurler syndrome pubmed:10466419 pubmed:10466419 4p16.3 4 1004286 G null R G 619 619 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S; 1.5% of normal activity, [ClinVar]: Hurler syndrome pubmed:10466419 pubmed:10466419 4p16.3 4 1004286 G null R G 619 619 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003591628 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs121965031 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S; 1.5% of normal activity, [ClinVar]: Hurler syndrome pubmed:10466419 pubmed:10466419 4p16.3 4 1004286 G null R G 619 619 missense 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012699 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372137794 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004287 A null R Q 619 619 missense 0.879 possibly damaging 0.01 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002406518 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs372137794 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004287 A null R Q 619 619 missense 0.879 possibly damaging 0.01 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001085530 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023278 [UniProt]: MPS1H; loss of function; undetectable enzyme activity, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:19396826 4p16.3 4 1004289 T null V F 620 620 missense 0.983 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001378365 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023278 [UniProt]: MPS1H; loss of function; undetectable enzyme activity, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:19396826 4p16.3 4 1004289 T null V F 620 620 missense 0.983 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis 1H (MPS1H) A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age. MIM:607014 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:1301941,pubmed:15300847,pubmed:19396826,pubmed:21394825,pubmed:24036510,pubmed:31194252,pubmed:7550232,pubmed:7550242,pubmed:7951228,pubmed:8019563,pubmed:8328452,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004292 G null R G 621 621 missense 0.353 benign 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV002481653 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004292 G null R G 621 621 missense 0.353 benign 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000696467 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004292 G null R G 621 621 missense 0.353 benign 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002481653 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs121965025 [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004292 G null R G 621 621 missense 0.353 benign 0.0 deleterious 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002481653 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs762399936 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004293 C null R P 621 621 missense 0.735 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001341748 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs762399936 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1004293 A null R Q 621 621 missense 0.119 benign 0.08 tolerated 0 Adenomas and Adenocarcinomas From tissue: Uterus, NOS P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs762399936 [ClinVar]: Mucopolysaccharidosis type 1, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact. 4p16.3 4 1004293 A null R Q 621 621 missense 0.119 benign 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003084106 P35475 IDUA Alpha-L-iduronidase ESP,TOPMed,gnomAD rs375422485 4p16.3 4 1004296 G null A G 622 622 missense 0.976 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917746 [ClinVar]: Hurler syndrome 4p16.3 4 1004299_1004323 l null L null 623 623 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669453 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917747 [ClinVar]: Hurler syndrome 4p16.3 4 1004298 l null L null 623 623 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000668159 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023287 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Familial hypokalemia-hypomagnesemia, [ClinVar]: Hurler syndrome 4p16.3 4 1004299 C null L P 623 623 missense 0.45 possibly damaging 0.0 deleterious 0 Familial hypokalemia-hypomagnesemia (GTLMNS) MIM:263800 pubmed:21343949,ClinVar:RCV004542135 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023287 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Familial hypokalemia-hypomagnesemia, [ClinVar]: Hurler syndrome 4p16.3 4 1004299 C null L P 623 623 missense 0.45 possibly damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001824223 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023287 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Familial hypokalemia-hypomagnesemia, [ClinVar]: Hurler syndrome 4p16.3 4 1004299 C null L P 623 623 missense 0.45 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001869832 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs753180581 4p16.3 4 1004298 G null L V 623 623 missense 0.0 benign 1.0 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715311906 4p16.3 4 1004301 T null D Y 624 624 missense 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs587779401 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004305 G null Y C 625 625 missense 0.999 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000087088 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs587779401 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004305 G null Y C 625 625 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002515779 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1715312209 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004304 C null Y H 625 625 missense 0.992 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001154844 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs587779401 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004305 C null Y S 625 625 missense 0.992 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003756469 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1281475543 [UniProt]: MPS1H/S pubmed:7550242 4p16.3 4 1004307 A null W R 626 626 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534104335 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004313 l null R null 628 628 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003755845 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs756572099 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004313 T null R * 628 628 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000665162 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs756572099 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004313 T null R * 628 628 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001210649 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs756572099 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004313 G null R G 628 628 missense 0.686 possibly damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005616608 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200448421 4p16.3 4 1004314 T null R L 628 628 missense 0.329 benign 0.0 deleterious 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200448421 [ClinVar]: Mucopolysaccharidosis, MPS-IV-A, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1004314 C null R P 628 628 missense 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001374701 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200448421 [ClinVar]: Mucopolysaccharidosis, MPS-IV-A, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1004314 C null R P 628 628 missense 0 Mucopolysaccharidosis 1H/S (MPS1H/S) A form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility. MIM:607015 pubmed:10466419,pubmed:10735634,pubmed:12559846,pubmed:15300847,pubmed:21394825,pubmed:7550232,pubmed:7550242,pubmed:8401515 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200448421 [ClinVar]: Mucopolysaccharidosis, MPS-IV-A, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1004314 C null R P 628 628 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001865868 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs200448421 [ClinVar]: Mucopolysaccharidosis, MPS-IV-A, [ClinVar]: Mucopolysaccharidosis type 1, [UniProt]: MPS1H/S, [ClinVar]: Hurler syndrome pubmed:12559846 4p16.3 4 1004314 C null R P 628 628 missense 0 Mucopolysaccharidosis, MPS-IV-A (MPS4A) The phenotypic spectrum of mucopolysaccharidosis IVA (MPS IVA) is a continuum that ranges from a severe and rapidly progressive early-onset form to a slowly progressive later-onset form. MIM:253000 pubmed:23844448,ClinVar:RCV003229620 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs200448421 4p16.3 4 1004314 A null R Q 628 628 missense 0.164 benign 0.03 deleterious 0 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715313451 4p16.3 4 1004316 T null P S 629 629 missense 0.053 benign 0.1 tolerated 0 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023301 [ClinVar]: Hurler syndrome 4p16.3 4 1004320 A null G D 630 630 missense 0.993 probably damaging 0.0 deleterious 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV001806437 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs1553917753 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004319 A null G S 630 630 missense 0.911 probably damaging 0.08 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000533179 P35475 IDUA Alpha-L-iduronidase Ensembl rs1553917755 4p16.3 4 1004323 G null P R 631 631 missense 0.348 benign 0.15 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917754 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004324 l null F null 632 632 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000984187 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917754 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004324 l null F null 632 632 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000587377 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs2153023304 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004325 A null F I 632 632 missense 0.386 benign 0.04 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001909679 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1299387902 4p16.3 4 1004327 A null F L 632 632 missense 0.132 benign 0.01 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917756 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004328 l null S null 633 633 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000669435 P35475 IDUA Alpha-L-iduronidase dbSNP rs1553917756 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome 4p16.3 4 1004328 l null S null 633 633 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001224049 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004329 A null S * 633 633 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005038174 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004329 A null S * 633 633 stop gained 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001380046 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004329 A null S * 633 633 stop gained 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005038174 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004329 A null S * 633 633 stop gained 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005038174 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1004329 T null S L 633 633 missense 0.998 probably damaging 0.0 deleterious 1 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000672407,ClinVar:RCV002499181 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1004329 T null S L 633 633 missense 0.998 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001380047 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1004329 T null S L 633 633 missense 0.998 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV002499181,ClinVar:RCV004817901 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1004329 T null S L 633 633 missense 0.998 probably damaging 0.0 deleterious 1 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV002499181 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S, [NCI-TCGA]: Variant assessed as Somatic; MODERATE impact., [ClinVar]: Hurler syndrome 4p16.3 4 1004329 T null S L 633 633 missense 0.998 probably damaging 0.0 deleterious 1 Transitional Cell Papillomas and Carcinomas From tissue: Bladder, NOS P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004329 G null S W 633 633 missense 0.999 probably damaging 0.0 deleterious 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV001267071 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs886043347 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004329 G null S W 633 633 missense 0.999 probably damaging 0.0 deleterious 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001248897 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1257511033 4p16.3 4 1004334 T null P S 635 635 missense 0.038 benign 0.08 tolerated 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs1715314710 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004338_1004348 l null V null 636 636 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001251348 P35475 IDUA Alpha-L-iduronidase dbSNP,gnomAD rs1327059390 [ClinVar]: Inborn genetic diseases 4p16.3 4 1004340 G null P A 637 637 missense 0.003 benign 0.55 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV002739627 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371369206 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004341 T null P L 637 637 missense 0.007 benign 0.58 tolerated 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV005348395 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371369206 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004341 T null P L 637 637 missense 0.007 benign 0.58 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001245581 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs371369206 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004341 G null P R 637 637 missense 0.0 benign 0.82 tolerated 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003002609 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs768467230 [ClinVar]: Hurler syndrome 4p16.3 4 1004345 A null Y * 638 638 stop gained 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000670344 P35475 IDUA Alpha-L-iduronidase ExAC,gnomAD rs747181335 4p16.3 4 1004343 C null Y H 638 638 missense 0.98 probably damaging 0.02 deleterious 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534104525 4p16.3 4 1004342_1004362 l null YLEVPVP null 638 644 inframe deletion 0 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs1200080492 [ClinVar]: IDUA-related disorder 4p16.3 4 1004352 T null V F 641 641 missense 0.0 unknown 0.05 tolerated - low confidence 0 IDUA-related disorder ClinVar:RCV003416755 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1200080492 4p16.3 4 1004352 A null V I 641 641 missense 0.0 unknown 0.21 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs1379718691 4p16.3 4 1004355 A null P T 642 642 missense 0.0 unknown 0.01 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase dbSNP rs2534104674 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004359 C null V A 643 643 missense 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003592461 P35475 IDUA Alpha-L-iduronidase gnomAD rs1283881762 4p16.3 4 1004362 T null P L 644 644 missense 0.0 unknown 0.04 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs766119385 4p16.3 4 1004365 T null R I 645 645 missense 0.0 unknown 0.18 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,gnomAD rs766119385 4p16.3 4 1004365 A null R K 645 645 missense 0.0 unknown 0.88 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs531602352 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004367 C null G R 646 646 0.000392465 missense 0.0 unknown 0.07 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004985219 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs531602352 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004367 C null G R 646 646 0.000392465 missense 0.0 unknown 0.07 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002592185 P35475 IDUA Alpha-L-iduronidase dbSNP rs570293502 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004369 l null P null 648 648 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002659466 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715318092 4p16.3 4 1004374 A null P Q 648 648 missense 0.0 unknown 0.74 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs754403276 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004373 T null P S 648 648 missense 0.0 unknown 0.56 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003065582 P35475 IDUA Alpha-L-iduronidase TOPMed rs1715318200 4p16.3 4 1004376 G null S A 649 649 missense 0.0 unknown 0.93 tolerated - low confidence 0 P35475 IDUA Alpha-L-iduronidase ExAC,TOPMed,dbSNP,gnomAD rs762223172 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004377 T null S F 649 649 missense 0.0 unknown 0.08 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002629139 P35475 IDUA Alpha-L-iduronidase dbSNP rs1292032609 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004369_1004378 p null P null 650 650 frameshift 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV005034505 P35475 IDUA Alpha-L-iduronidase dbSNP rs1292032609 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004369_1004378 p null P null 650 650 frameshift 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002957592 P35475 IDUA Alpha-L-iduronidase dbSNP rs1292032609 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004369_1004378 p null P null 650 650 frameshift 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV005034505 P35475 IDUA Alpha-L-iduronidase dbSNP rs1292032609 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Mucopolysaccharidosis, MPS-I-S 4p16.3 4 1004369_1004378 p null P null 650 650 frameshift 0 Mucopolysaccharidosis, MPS-I-S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607016 pubmed:20301341,ClinVar:RCV005034505 P35475 IDUA Alpha-L-iduronidase Ensembl rs1442304360 4p16.3 4 1004379 G null P A 650 650 missense 0.0 unknown 0.0 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs751132616 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004380 T null P L 650 650 missense 0.0 unknown 0.0 deleterious - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV002002853 P35475 IDUA Alpha-L-iduronidase ExAC,dbSNP,gnomAD rs750609855 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004383 A null G D 651 651 missense 0.0 unknown 0.19 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001946375 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372305229 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004386 G null N S 652 652 missense 0.0 unknown 0.25 tolerated - low confidence 0 Inborn genetic diseases pubmed:22947299,pubmed:23037933,pubmed:23169492,pubmed:23619275,pubmed:23652378,pubmed:23881473,pubmed:24022298,pubmed:24121147,pubmed:24394680,pubmed:25626707,pubmed:25730230,pubmed:31022120,ClinVar:RCV004070285 P35475 IDUA Alpha-L-iduronidase ESP,ExAC,TOPMed,dbSNP,gnomAD rs372305229 [ClinVar]: Inborn genetic diseases, [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004386 G null N S 652 652 missense 0.0 unknown 0.25 tolerated - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV003076406 P35475 IDUA Alpha-L-iduronidase TOPMed,dbSNP,gnomAD rs970991915 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004388 T null P S 653 653 missense 0.0 unknown 0.0 deleterious - low confidence 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001897054 P35475 IDUA Alpha-L-iduronidase TOPMed,gnomAD rs970991915 4p16.3 4 1004388 A null P T 653 653 missense 0.0 unknown 0.0 deleterious - low confidence 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs199794428 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8328452 4p16.3 4 1004393 T null * C 654 654 stop lost 0 Hurler syndrome Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607014 pubmed:20301341,ClinVar:RCV000012686 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,dbSNP,gnomAD rs199794428 [ClinVar]: Mucopolysaccharidosis type 1, [ClinVar]: Hurler syndrome pubmed:8328452 4p16.3 4 1004393 T null * C 654 654 stop lost 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV005252039 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs387906504 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:7550232,pubmed:8328452 4p16.3 4 1004391 G null * G 654 654 stop lost 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV000208602 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs387906504 [ClinVar]: Mucopolysaccharidosis, MPS-I-H/S, [ClinVar]: Mucopolysaccharidosis type 1 pubmed:7550232,pubmed:8328452 4p16.3 4 1004391 G null * G 654 654 stop lost 0 Mucopolysaccharidosis, MPS-I-H/S Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. MIM:607015 pubmed:20301341,ClinVar:RCV000012695 P35475 IDUA Alpha-L-iduronidase Ensembl,dbSNP rs387906504 [ClinVar]: Mucopolysaccharidosis type 1 4p16.3 4 1004391 C null * R 654 654 stop lost 0 Mucopolysaccharidosis type 1 Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. pubmed:20301341,ClinVar:RCV001233538 P35475 IDUA Alpha-L-iduronidase Ensembl rs1715319757 4p16.3 4 1004392 C null * S 654 654 stop lost 0 P35475 IDUA Alpha-L-iduronidase 1000Genomes,ExAC,gnomAD rs199794428 4p16.3 4 1004393 G null * W 654 654 stop lost 0 P35475 IDUA Alpha-L-iduronidase Ensembl rs121965028 4p16.3 4 1004391_1004393 l null * del 654 654 stop lost 0