P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1297567794 21q22.11 21 31659774 C T A V 2 2 missense 0.003 benign 0.68 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912444 21q22.11 21 31659782 G A A T 5 5 missense 0.4825 benign, probably damaging 0.095 deleterious, tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015887 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912442 21q22.11 21 31659783 C T A V 5 5 missense 0.4915 benign, probably damaging 0.055 deleterious, tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015885 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912448 21q22.11 21 31659789 G T C F 7 7 missense 1.0 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015894 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1312702973 21q22.11 21 31659788 T G C G 7 7 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1312702973 21q22.11 21 31659788 T A C S 7 7 missense 1.0 probably damaging 0.03 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs121912448 21q22.11 21 31659789 G A C Y 7 7 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1380854315 21q22.11 21 31659791 G A V M 8 8 missense 0.982 probably damaging 0.07 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1236713490 21q22.11 21 31659797 A C K Q 10 10 missense 0.031 benign 0.12 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl rs1555836167 21q22.11 21 31659801 G T G V 11 11 missense 0.982 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs762628133 21q22.11 21 31659803 G T D Y 12 12 missense 0.89 possibly damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912456 21q22.11 21 31659806 G C G R 13 13 missense 0.902 possibly damaging 0.01 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015903 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,gnomAD rs1202989817 21q22.11 21 31659813 T C V A 15 15 missense 0.414 benign 0.06 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs200016533 21q22.11 21 31659816 A G Q R 16 16 missense 0.105 benign 0.23 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1200906022 21q22.11 21 31659819 G C G A 17 17 missense 0.78 possibly damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs121912453 21q22.11 21 31659818 G T G C 17 17 missense 0.999 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912453 21q22.11 21 31659818 G A G S 17 17 missense 0.993 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015899 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1460554436 21q22.11 21 31659821 A G I V 18 18 missense 0.0 benign 0.58 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1182088847 21q22.11 21 31659826 C G I M 19 19 missense 0.809 possibly damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,dbSNP,gnomAD rs768029813 21q22.11 21 31659828 A G N S 20 20 missense 0.007 benign 0.26 tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000689563 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912450 21q22.11 21 31659833 G A E K 22 22 missense 0.503 possibly damaging 0.34 tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015896 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1424217272 21q22.11 21 31659838 G T Q H 23 23 missense 0.932 probably damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1424217272 21q22.11 21 31659838 G C Q H 23 23 missense 0.932 probably damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,dbSNP,gnomAD rs1169198442 21q22.11 21 31659837 A T Q L 23 23 missense 0.178 benign 0.01 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,gnomAD rs1169198442 21q22.11 21 31659837 A G Q R 23 23 missense 0.501 possibly damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs747214897 21q22.11 21 31663794 G A S N 26 26 missense 0.015 benign 0.38 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs747214897 21q22.11 21 31663794 G C S T 26 26 missense 0.0 benign 0.45 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1428716759 21q22.11 21 31663812 T C V A 32 32 missense 0.877 possibly damaging, probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1428716759 21q22.11 21 31663812 T G V G 32 32 missense 0.982 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1319528534 21q22.11 21 31663815 G A W * 33 33 stop gained 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs777560607 21q22.11 21 31663821 G T S I 35 35 missense 0.025 benign 0.09 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs1057524474 21q22.11 21 31663823 A T I F 36 36 missense 0.629 benign, probably damaging 0.06 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912431 21q22.11 21 31663829 G C G R 38 38 missense 0.8435 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000664220 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912431 21q22.11 21 31663829 G A G R 38 38 missense 0.8435 possibly damaging, probably damaging 0.0 deleterious 0 Motor neuron disease MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015874,ClinVar:RCV000492487 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912432 21q22.11 21 31663832 C G L V 39 39 missense 0.959 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015875 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP rs1568809149 21q22.11 21 31663839 A G E G 41 41 missense 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000697630 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912434 21q22.11 21 31663842 G A G D 42 42 missense 0.9195 possibly damaging, probably damaging 0.005 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015877 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912433 21q22.11 21 31663841 G A G S 42 42 missense 0.996 probably damaging 0.02 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015876 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912435 21q22.11 21 31663848 A G H R 44 44 missense 0.912 possibly damaging, probably damaging 0.165 tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015878 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912457 21q22.11 21 31663854 T G F C 46 46 missense 0.944 possibly damaging, probably damaging 0.025 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015904 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs748897491 21q22.11 21 31663856 C G H D 47 47 missense 0.982 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912443 21q22.11 21 31663857 A G H R 47 47 missense 0.944 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015886 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs748897491 21q22.11 21 31663856 C T H Y 47 47 missense 0.897 possibly damaging, probably damaging 0.02 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC rs770404622 21q22.11 21 31663866 A T E V 50 50 missense 0.017 benign 0.09 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs759149157 21q22.11 21 31663869 T G F C 51 51 missense 0.993 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1413388444 21q22.11 21 31666458 G A S N 60 60 missense 0.902 possibly damaging, probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1378635853 21q22.11 21 31666461 C A A E 61 61 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1030039318 21q22.11 21 31666472 T C F L 65 65 missense 0.8605 possibly damaging, probably damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1356474292 21q22.11 21 31666478 C T P S 67 67 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs778327622 21q22.11 21 31666485 C T S F 69 69 missense 0.837 possibly damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs778327622 21q22.11 21 31666485 C A S Y 69 69 missense 0.498 benign, probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1457291290 21q22.11 21 31666487 A G R G 70 70 missense 0.059 benign 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,dbSNP,gnomAD rs121912455 21q22.11 21 31666496 G A G S 73 73 missense 0.869 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015902 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs1555836720 21q22.11 21 31666499 G A G R 74 74 missense 1.0 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000644457 P00441 SOD1 Superoxide dismutase [Cu-Zn] NCI-TCGA,dbSNP,gnomAD rs121912458 21q22.11 21 31667260 A G H R 81 81 missense 0.885 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015905 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1315541036 21q22.11 21 31667273 G C L F 85 85 missense 0.998 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,dbSNP,gnomAD rs121912452 21q22.11 21 31667271 T G L V 85 85 missense 0.618 benign, possibly damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015898 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912436 21q22.11 21 31667274 G C G R 86 86 missense 1.0 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015880 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs11556620 21q22.11 21 31667278 A G N S 87 87 missense 0.9445 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000529591 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1339283341 21q22.11 21 31667281 T C V A 88 88 missense 0.97 probably damaging 0.01 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP rs1568810660 COSM1030067 21q22.11 21 31667286 G A A T 90 90 missense 0.896 possibly damaging 0.17 tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000687912 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1280042397 21q22.11 21 31667287 C T A V 90 90 missense 0.8825 possibly damaging, probably damaging 0.05 deleterious, tolerated 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80265967 21q22.11 21 31667290 A C D A 91 91 3.99E-4 missense 0.001 benign 0.04 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ESP,ExAC,TOPMed,gnomAD rs80265967 21q22.11 21 31667290 A C D A 91 91 3.99E-4 missense 0.007 benign 0.03 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ESP,ExAC,TOPMed,dbSNP,gnomAD rs80265967 21q22.11 21 31667290 A C D A 91 91 missense 0.007 benign 0.03 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015888 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1256439749 21q22.11 21 31667291 C G D E 91 91 missense 0.001 benign 0.05 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1343616996 21q22.11 21 31667289 G A D N 91 91 missense 0.003 benign 0.38 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1345907062 21q22.11 21 31667292 A G K E 92 92 missense 0.003 benign 0.59 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs774994509 21q22.11 21 31667296 A G D G 93 93 missense 0.018 benign 0.08 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912438 21q22.11 21 31667299 G C G A 94 94 missense 0.8915 possibly damaging, probably damaging 0.01 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015882 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912437 21q22.11 21 31667298 G T G C 94 94 missense 1.0 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015881 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912438 21q22.11 21 31667299 G A G D 94 94 missense 0.997 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912437 21q22.11 21 31667298 G C G R 94 94 missense 0.999 probably damaging 0.01 deleterious 0 Motor neuron disease MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015907,ClinVar:RCV000492720 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ExAC,TOPMed,gnomAD rs111229903 21q22.11 21 31667309 T A D E 97 97 2.0E-4 missense 0.0 benign 0.83 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,NCI-TCGA,dbSNP,gnomAD rs121912459 21q22.11 21 31667307 G A D N 97 97 missense 0.0 benign 0.29 tolerated 0 Amyotrophic lateral sclerosis 1, autosomal recessive ClinVar:RCV000015906 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs760740095 21q22.11 21 31667316 A G I V 100 100 missense 0.175 benign 0.08 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912439 21q22.11 21 31667320 A G E G 101 101 missense 0.279 benign 0.12 tolerated 0 Motor neuron disease MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015883,ClinVar:RCV000492233 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912445 21q22.11 21 31667331 A T I F 105 105 missense 0.766 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis 1, autosomal recessive MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 ClinVar:RCV000015890 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs957386804 21q22.11 21 31667332 T C I T 105 105 missense 0.998 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1378590183 21q22.11 21 31667335 C T S L 106 106 missense 0.854 possibly damaging 0.02 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912440 21q22.11 21 31667337 C G L V 107 107 missense 0.971 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015879 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1359299834 21q22.11 21 31667344 G A G E 109 109 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP rs1568810758 21q22.11 21 31667343 G C G R 109 109 missense 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs567432143 21q22.11 21 31667346 G T D Y 110 110 missense 0.4185 benign, possibly damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1299542356 21q22.11 21 31667357 C G I M 113 113 missense 0.974 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs74315452 21q22.11 21 31667356 T C I T 113 113 missense 0.97 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015884 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs750335577 21q22.11 21 31667360 T G I M 114 114 missense 0.925 possibly damaging, probably damaging 0.06 deleterious, tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,dbSNP,gnomAD rs121912441 21q22.11 21 31667359 T C I T 114 114 missense 0.8825 possibly damaging, probably damaging 0.04 deleterious 0 Motor neuron disease MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000178103,ClinVar:RCV000492500 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1301635320 21q22.11 21 31667364 C T R C 116 116 missense 0.9515 possibly damaging, probably damaging 0.02 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1301635320 21q22.11 21 31667364 C G R G 116 116 missense 0.911 possibly damaging, probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed rs1240334553 21q22.11 21 31667365 G A R H 116 116 missense 0.604 benign, possibly damaging, probably damaging 0.09667 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1235629842 21q22.11 21 31667373 G C V L 119 119 missense 0.945 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1457889952 21q22.11 21 31668471 G C V L 120 120 missense 0.146 benign 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1410925719 21q22.11 21 31668475 A G H R 121 121 missense 1.0 probably damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP rs1568811366 21q22.11 21 31668487 A C D A 125 125 missense 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1164911383 21q22.11 21 31668490 A C D A 126 126 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912454 21q22.11 21 31668493 T A L * 127 127 stop gained 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015900 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,gnomAD rs1464048449 21q22.11 21 31668501 G A G S 130 130 missense 1.0 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] TOPMed,gnomAD rs1169621300 21q22.11 21 31668505 G A G E 131 131 missense 0.428 benign 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1447747586 21q22.11 21 31668508 A G N S 132 132 missense 0.307 benign, possibly damaging 0.025 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,dbSNP,gnomAD rs121912451 21q22.11 21 31668517 G A S N 135 135 missense 0.999 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015897 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,TOPMed,gnomAD rs781031581 21q22.11 21 31668520 C T T I 136 136 missense 0.025 benign 0.09 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ExAC,TOPMed,dbSNP,gnomAD rs1804449 21q22.11 21 31668533 C A N K 140 140 2.0E-4 missense 0.7985 possibly damaging, probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs1555836937 21q22.11 21 31668535 C G A G 141 141 missense 0.924 probably damaging 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1217353001 21q22.11 21 31668534 G A A T 141 141 missense 0.707 possibly damaging 0.01 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1319062081 21q22.11 21 31668537 G T G * 142 142 stop gained 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1200970313 21q22.11 21 31668541 G A S N 143 143 missense 0.003 benign 0.0 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs746397967 21q22.11 21 31668543 C G R G 144 144 missense 0.992 probably damaging 0.04 deleterious 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1482760341 21q22.11 21 31668548 G C L F 145 145 missense 0.559 benign, probably damaging 0.03 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000808273 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912446 21q22.11 21 31668547 T C L S 145 145 missense 0.721 possibly damaging, probably damaging 0.055 deleterious, tolerated 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015891 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs1131690781 21q22.11 21 31668550 C A A D 146 146 missense 1.0 probably damaging 0.0 deleterious 0 Motor neuron disease ClinVar:RCV000492706 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs121912447 21q22.11 21 31668549 G A A T 146 146 missense 0.8875 possibly damaging, probably damaging 0.03 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015892 P00441 SOD1 Superoxide dismutase [Cu-Zn] Ensembl,dbSNP rs1555836950 21q22.11 21 31668556 G A G D 148 148 missense 0.998 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000644456 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1476760624 21q22.11 21 31668559 T G V G 149 149 missense 0.994 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] 1000Genomes,ExAC,dbSNP,gnomAD rs567511139 21q22.11 21 31668558 G A V I 149 149 3.99E-4 missense 0.656 benign, probably damaging 0.165 tolerated 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs1424014997 21q22.11 21 31668562 T C I T 150 150 missense 0.982 probably damaging 0.0 deleterious 0 Amyotrophic lateral sclerosis 1 (ALS1) A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 P00441 SOD1 Superoxide dismutase [Cu-Zn] gnomAD rs1169917994 21q22.11 21 31668561 A G I V 150 150 missense 0.312 benign 0.13 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] dbSNP,gnomAD rs121912449 21q22.11 21 31668568 T C I T 152 152 missense 0.658 possibly damaging 0.02 deleterious 0 Amyotrophic lateral sclerosis type 1 (ALS1) MIM:105400,MIM:105400 pubmed:10400992,pubmed:11369193,pubmed:11535232,pubmed:12754496,pubmed:15056757,pubmed:18378676,pubmed:18552350,pubmed:19741096,pubmed:27604643,pubmed:7501156,pubmed:7647793,pubmed:7655468,pubmed:7700376,pubmed:7795609,pubmed:7836951,pubmed:7870076,pubmed:7881433,pubmed:7951252,pubmed:8179602,pubmed:8528216 pubmed:16324086,pubmed:17653917,pubmed:20301623,pubmed:21914052,ClinVar:RCV000015895 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs747094021 21q22.11 21 31668570 G A A T 153 153 missense 0.091 benign 0.39 tolerated 0 P00441 SOD1 Superoxide dismutase [Cu-Zn] ExAC,gnomAD rs768697100 21q22.11 21 31668577 A C * S 155 155 stop lost 0