| NM_004082.5(DCTN1):c.2254-10A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000525769] |
Chr2:74367117 [GRCh38]
Chr2:74594244 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1816G>A (p.Val606Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000525405] |
Chr2:74368766 [GRCh38]
Chr2:74595893 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2019C>T (p.Ala673=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000554292]|DCTN1-related disorder [RCV003935466]|not provided [RCV001091891] |
Chr2:74367861 [GRCh38]
Chr2:74594988 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1060G>T (p.Ala354Ser) |
single nucleotide variant |
not provided [RCV000520114] |
Chr2:74370533 [GRCh38]
Chr2:74597660 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.843+5G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000556487]|not specified [RCV000517596] |
Chr2:74370974 [GRCh38]
Chr2:74598101 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3228G>A (p.Gln1076=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000546090]|DCTN1-related disorder [RCV003935467]|Inborn genetic diseases [RCV002323992] |
Chr2:74363411 [GRCh38]
Chr2:74590538 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2432C>G (p.Pro811Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001084932]|Inborn genetic diseases [RCV002456161]|Neuronopathy, distal hereditary motor, type 7B [RCV001140672]|Perry syndrome [RCV001140671]|not provided [RCV000544234] |
Chr2:74366817 [GRCh38]
Chr2:74593944 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3312C>T (p.Ile1104=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000526929]|Inborn genetic diseases [RCV002456162] |
Chr2:74363327 [GRCh38]
Chr2:74590454 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.833A>T (p.Glu278Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000544120] |
Chr2:74370989 [GRCh38]
Chr2:74598116 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.40A>G (p.Ser14Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000529783]|DCTN1-related disorder [RCV003935364]|Inborn genetic diseases [RCV004023504]|not provided [RCV000516591] |
Chr2:74378239 [GRCh38]
Chr2:74605366 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3501C>T (p.His1167=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000547306]|DCTN1-related disorder [RCV003942814]|Inborn genetic diseases [RCV002341374]|not provided [RCV003884620]|not specified [RCV001662565] |
Chr2:74363022 [GRCh38]
Chr2:74590149 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.175G>A (p.Gly59Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644484]|Hereditary motor neuron disease [RCV000789086]|Neuronopathy, distal hereditary motor, type 7B [RCV000008909]|Perry syndrome [RCV003447080] |
Chr2:74378104 [GRCh38]
Chr2:74605231 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000986779]|Amyotrophic lateral sclerosis type 1 [RCV001082630]|Amyotrophic lateral sclerosis, susceptibility to [RCV000008910]|Inborn genetic diseases [RCV002345235]|Neuronopathy, distal hereditary motor, type 7B [RCV001142310]|Perry syndrome [RCV000263003]|not provided [RCV000143802] |
Chr2:74361590 [GRCh38]
Chr2:74588717 [GRCh37]
Chr2:2p13.1 |
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.1712T>C (p.Met571Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis, susceptibility to [RCV000008911]|Perry syndrome [RCV003447081] |
Chr2:74368870 [GRCh38]
Chr2:74595997 [GRCh37]
Chr2:2p13.1 |
risk factor|uncertain significance |
| NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644476]|Amyotrophic lateral sclerosis type 1 [RCV000986781]|Amyotrophic lateral sclerosis, susceptibility to [RCV000008912]|Charcot-Marie-Tooth disease [RCV000144867]|DCTN1-related disorder [RCV003952351]|Inborn genetic diseases [RCV002444424]|Neuronopathy, distal hereditary motor, type 7B [RCV001140673]|Perry syndrome [RCV001140674]|not provided [RCV001572734] |
Chr2:74366896 [GRCh38]
Chr2:74594023 [GRCh37]
Chr2:2p13.1 |
risk factor|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3302G>A (p.Arg1101Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001202903]|Amyotrophic lateral sclerosis, susceptibility to [RCV000008913]|Inborn genetic diseases [RCV002453250]|Perry syndrome [RCV003447082]|not specified [RCV004700205] |
Chr2:74363337 [GRCh38]
Chr2:74590464 [GRCh37]
Chr2:2p13.1 |
risk factor|uncertain significance |
| NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV004766988]|Perry syndrome [RCV000008914] |
Chr2:74378068 [GRCh38]
Chr2:74605195 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_004082.5(DCTN1):c.221A>C (p.Gln74Pro) |
single nucleotide variant |
Perry syndrome [RCV000008915]|not provided [RCV001531490] |
Chr2:74378058 [GRCh38]
Chr2:74605185 [GRCh37]
Chr2:2p13.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003764613]|Perry syndrome [RCV000020576]|not provided [RCV001531491] |
Chr2:74378067 [GRCh38]
Chr2:74605194 [GRCh37]
Chr2:2p13.1 |
pathogenic |
| NM_004082.5(DCTN1):c.212G>C (p.Gly71Ala) |
single nucleotide variant |
Perry syndrome [RCV003447424] |
Chr2:74378067 [GRCh38]
Chr2:74605194 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.214A>C (p.Thr72Pro) |
single nucleotide variant |
Perry syndrome [RCV003447426] |
Chr2:74378065 [GRCh38]
Chr2:74605192 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.4(DCTN1):c.1437T>G (p.Arg479=) |
single nucleotide variant |
Malignant melanoma [RCV000060612] |
Chr2:74369447 [GRCh38]
Chr2:74596574 [GRCh37]
Chr2:74450082 [NCBI36]
Chr2:2p13.1 |
not provided |
| NM_004082.4(DCTN1):c.959C>T (p.Ser320Phe) |
single nucleotide variant |
Malignant melanoma [RCV000060613] |
Chr2:74370710 [GRCh38]
Chr2:74597837 [GRCh37]
Chr2:74451345 [NCBI36]
Chr2:2p13.1 |
not provided |
| NM_004082.5(DCTN1):c.1592A>G (p.Asn531Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001312328] |
Chr2:74369207 [GRCh38]
Chr2:74596334 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1480G>A (p.Ala494Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001349255]|Inborn genetic diseases [RCV002395773] |
Chr2:74369404 [GRCh38]
Chr2:74596531 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 |
copy number gain |
See cases [RCV000136053] |
Chr2:58279519..83586962 [GRCh38]
Chr2:58506654..83814086 [GRCh37]
Chr2:58360158..83667597 [NCBI36]
Chr2:2p16.1-11.2 |
pathogenic |
| GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 |
copy number gain |
See cases [RCV000137586] |
Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2 |
uncertain significance |
| NM_004082.5(DCTN1):c.2158C>G (p.Leu720Val) |
single nucleotide variant |
not provided [RCV000175311] |
Chr2:74367722 [GRCh38]
Chr2:74594849 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1 |
copy number loss |
See cases [RCV000143456] |
Chr2:74375779..75517520 [GRCh38]
Chr2:74602906..75744646 [GRCh37]
Chr2:74456414..75598154 [NCBI36]
Chr2:2p13.1-12 |
likely pathogenic |
| NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000810763]|Inborn genetic diseases [RCV003258681]|not provided [RCV000175446] |
Chr2:74367396 [GRCh38]
Chr2:74594523 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001208682]|DCTN1-related disorder [RCV004745257]|Inborn genetic diseases [RCV003352793]|not provided [RCV000176874] |
Chr2:74363389 [GRCh38]
Chr2:74590516 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.646-15G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003765963]|Neuronopathy, distal hereditary motor, type 7B [RCV000263266]|Perry syndrome [RCV000329937] |
Chr2:74371191 [GRCh38]
Chr2:74598318 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.439A>G (p.Thr147Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000546803]|Inborn genetic diseases [RCV003278899]|not provided [RCV001755849] |
Chr2:74372942 [GRCh38]
Chr2:74600069 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2649C>T (p.Ser883=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000544607]|DCTN1-related disorder [RCV003942812]|Inborn genetic diseases [RCV002431638]|not provided [RCV004708933] |
Chr2:74366355 [GRCh38]
Chr2:74593482 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3529+5G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001081908]|DCTN1-related disorder [RCV003977774]|Inborn genetic diseases [RCV002450812]|Neuronopathy, distal hereditary motor, type 7B [RCV000325286]|Perry syndrome [RCV000384637]|not provided [RCV000488354]|not specified [RCV000328803] |
Chr2:74362989 [GRCh38]
Chr2:74590116 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.837G>A (p.Ala279=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001088199]|DCTN1-related disorder [RCV003942686]|not provided [RCV000585130]|not specified [RCV000516655] |
Chr2:74370985 [GRCh38]
Chr2:74598112 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.156T>G (p.Phe52Leu) |
single nucleotide variant |
Perry syndrome [RCV003447330]|not provided [RCV002273417] |
Chr2:74378123 [GRCh38]
Chr2:74605250 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.3594C>T (p.Thr1198=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001082279]|Inborn genetic diseases [RCV002338938]|Neuronopathy, distal hereditary motor, type 7B [RCV000333451]|Perry syndrome [RCV000273544]|not provided [RCV000711414]|not specified [RCV001000662] |
Chr2:74362665 [GRCh38]
Chr2:74589792 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3498G>A (p.Thr1166=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001088692]|Inborn genetic diseases [RCV002450910]|Neuronopathy, distal hereditary motor, type 7B [RCV000285669]|Perry syndrome [RCV000390204]|not provided [RCV000711412] |
Chr2:74363025 [GRCh38]
Chr2:74590152 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2278A>G (p.Met760Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000555724]|DCTN1-related disorder [RCV003418060]|Inborn genetic diseases [RCV002446597]|Neuronopathy, distal hereditary motor, type 7B [RCV000278941]|Perry syndrome [RCV000336449]|not provided [RCV000997172]|not specified [RCV000517874] |
Chr2:74367083 [GRCh38]
Chr2:74594210 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.*167C>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000350572]|Perry syndrome [RCV000281506] |
Chr2:74361332 [GRCh38]
Chr2:74588459 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2258C>T (p.Thr753Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000873245]|Inborn genetic diseases [RCV002446598]|Neuronopathy, distal hereditary motor, type 7B [RCV000282632]|Perry syndrome [RCV000374668]|not provided [RCV004710907] |
Chr2:74367103 [GRCh38]
Chr2:74594230 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2505G>A (p.Thr835=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000979235]|Inborn genetic diseases [RCV002429302]|Neuronopathy, distal hereditary motor, type 7B [RCV000282898]|Perry syndrome [RCV000384390]|not provided [RCV003992280] |
Chr2:74366582 [GRCh38]
Chr2:74593709 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000705512]|Neuronopathy, distal hereditary motor, type 7B [RCV000791026]|Perry syndrome [RCV000384162] |
Chr2:74378220 [GRCh38]
Chr2:74605347 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2646C>T (p.Ser882=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000876351]|not specified [RCV000243687] |
Chr2:74366358 [GRCh38]
Chr2:74593485 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3610-20C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002058148]|not provided [RCV001579495]|not specified [RCV000243986] |
Chr2:74362161 [GRCh38]
Chr2:74589288 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2753C>A (p.Pro918His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001861154]|Inborn genetic diseases [RCV002523140]|Neuronopathy, distal hereditary motor, type 7B [RCV000269835]|Perry syndrome [RCV000327510] |
Chr2:74366251 [GRCh38]
Chr2:74593378 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.280-42A>G |
single nucleotide variant |
not provided [RCV001668496]|not specified [RCV000247038] |
Chr2:74377768 [GRCh38]
Chr2:74604895 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.34-11G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002058147]|Neuronopathy, distal hereditary motor, type 7B [RCV000340339]|Perry syndrome [RCV000390031]|not provided [RCV001548620]|not specified [RCV000251948] |
Chr2:74378256 [GRCh38]
Chr2:74605383 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001260195]|Amyotrophic lateral sclerosis type 1 [RCV000547912]|Neuronopathy, distal hereditary motor, type 7B [RCV000267301]|Perry syndrome [RCV000323911]|not provided [RCV001706341]|not specified [RCV000252177] |
Chr2:74369400 [GRCh38]
Chr2:74369400..74369401 [GRCh38]
Chr2:74596527 [GRCh37]
Chr2:74596527..74596528 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.233A>G (p.Tyr78Cys) |
single nucleotide variant |
Perry syndrome [RCV003447411] |
Chr2:74378046 [GRCh38]
Chr2:74605173 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.200G>A (p.Gly67Asp) |
single nucleotide variant |
Perry syndrome [RCV001849545] |
Chr2:74378079 [GRCh38]
Chr2:74605206 [GRCh37]
Chr2:2p13.1 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_004082.5(DCTN1):c.1605A>G (p.Thr535=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000529041]|Neuronopathy, distal hereditary motor, type 7B [RCV000302441]|Perry syndrome [RCV000359635]|not provided [RCV001640529]|not specified [RCV000242537] |
Chr2:74369194 [GRCh38]
Chr2:74596321 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2016-23C>T |
single nucleotide variant |
not provided [RCV001597009]|not specified [RCV000247538] |
Chr2:74367887 [GRCh38]
Chr2:74595014 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000556074]|Neuronopathy, distal hereditary motor, type 7B [RCV000321609]|Perry syndrome [RCV000380463]|not provided [RCV001546571]|not specified [RCV000252486] |
Chr2:74366801 [GRCh38]
Chr2:74593928 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.279+1G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV003993994]|Amyotrophic lateral sclerosis type 1 [RCV001232579]|not provided [RCV000516456] |
Chr2:74377999 [GRCh38]
Chr2:74605126 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.3185G>A (p.Gly1062Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002519985]|Neuronopathy, distal hereditary motor, type 7B [RCV000275830]|Perry syndrome [RCV000368308] |
Chr2:74365086 [GRCh38]
Chr2:74592213 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.622C>T (p.Pro208Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001865222]|Distal spinal muscular atrophy [RCV004576946]|Perry syndrome [RCV000276075] |
Chr2:74371560 [GRCh38]
Chr2:74598687 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1288-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000551528]|Neuronopathy, distal hereditary motor, type 7B [RCV000349580]|Perry syndrome [RCV000292407]|not provided [RCV001530844]|not specified [RCV000248042] |
Chr2:74370072 [GRCh38]
Chr2:74597199 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.558G>A (p.Pro186=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644490]|Inborn genetic diseases [RCV002347959]|Neuronopathy, distal hereditary motor, type 7B [RCV001140906]|Perry syndrome [RCV001140905]|not provided [RCV003114426]|not specified [RCV000248139] |
Chr2:74371624 [GRCh38]
Chr2:74598751 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.859C>A (p.Leu287Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000537100]|Neuronopathy, distal hereditary motor, type 7B [RCV000360382]|Perry syndrome [RCV000259728]|not provided [RCV001618431]|not specified [RCV000253108] |
Chr2:74370810 [GRCh38]
Chr2:74597937 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1822G>A (p.Val608Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001440346]|Neuronopathy, distal hereditary motor, type 7B [RCV000365451]|Perry syndrome [RCV000273103] |
Chr2:74368760 [GRCh38]
Chr2:74595887 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.167A>G (p.Lys56Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000549432] |
Chr2:74378112 [GRCh38]
Chr2:74605239 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.3478A>C (p.Asn1160His) |
single nucleotide variant |
Inborn genetic diseases [RCV004609361]|Neuronopathy, distal hereditary motor, type 7B [RCV000355587]|Perry syndrome [RCV000298494] |
Chr2:74363045 [GRCh38]
Chr2:74590172 [GRCh37]
Chr2:2p13.1 |
benign|uncertain significance |
| NM_004082.5(DCTN1):c.810C>G (p.Ala270=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002057712]|Inborn genetic diseases [RCV002418204]|Neuronopathy, distal hereditary motor, type 7B [RCV000298584]|Perry syndrome [RCV000355648] |
Chr2:74371012 [GRCh38]
Chr2:74598139 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2136T>C (p.Asp712=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001512566]|Inborn genetic diseases [RCV002418202]|Neuronopathy, distal hereditary motor, type 7B [RCV000352862]|Perry syndrome [RCV000313824] |
Chr2:74367744 [GRCh38]
Chr2:74594871 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.*57C>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000400833]|Perry syndrome [RCV000351634] |
Chr2:74361442 [GRCh38]
Chr2:74588569 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001083433]|DCTN1-related disorder [RCV003932341]|Inborn genetic diseases [RCV002323545]|Neuronopathy, distal hereditary motor, type 7B [RCV000333292]|Perry syndrome [RCV000362337]|not provided [RCV000550997]|not specified [RCV000517373] |
Chr2:74365125 [GRCh38]
Chr2:74592252 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001260196]|Amyotrophic lateral sclerosis type 1 [RCV001084399]|Neuronopathy, distal hereditary motor, type 7B [RCV000380851]|Perry syndrome [RCV000333493]|not provided [RCV000541293]|not specified [RCV000507449] |
Chr2:74371596 [GRCh38]
Chr2:74598723 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.*251T>G |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000316697]|Perry syndrome [RCV000375911] |
Chr2:74361248 [GRCh38]
Chr2:74588375 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3610-14C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003765962]|Neuronopathy, distal hereditary motor, type 7B [RCV000318150]|Perry syndrome [RCV000368095] |
Chr2:74362155 [GRCh38]
Chr2:74589282 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.999C>G (p.Asp333Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000550051]|Inborn genetic diseases [RCV002379230]|Neuronopathy, distal hereditary motor, type 7B [RCV000303359]|Perry syndrome [RCV000398428]|not provided [RCV001726133] |
Chr2:74370670 [GRCh38]
Chr2:74597797 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.*21C>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000407896]|Perry syndrome [RCV000303678]|not provided [RCV004708677] |
Chr2:74361478 [GRCh38]
Chr2:74588605 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3519C>T (p.Arg1173=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000873159]|Inborn genetic diseases [RCV002450909]|Neuronopathy, distal hereditary motor, type 7B [RCV000340591]|Perry syndrome [RCV000290275]|not provided [RCV002227154]|not specified [RCV000518255] |
Chr2:74363004 [GRCh38]
Chr2:74590131 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.*49G>A |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000288391]|Perry syndrome [RCV000348085] |
Chr2:74361450 [GRCh38]
Chr2:74588577 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.60G>A (p.Ala20=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001088611]|DCTN1-related disorder [RCV003969970]|Inborn genetic diseases [RCV002356469]|Neuronopathy, distal hereditary motor, type 7B [RCV000327299]|Perry syndrome [RCV000288698]|not provided [RCV000555240] |
Chr2:74378219 [GRCh38]
Chr2:74605346 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644471]|DCTN1-related disorder [RCV003910304]|Neuronopathy, distal hereditary motor, type 7B [RCV000408161]|Perry syndrome [RCV000361127] |
Chr2:74361554 [GRCh38]
Chr2:74588681 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3490A>G (p.Thr1164Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000534844]|Neuronopathy, distal hereditary motor, type 7B [RCV000342924]|Perry syndrome [RCV000401234] |
Chr2:74363033 [GRCh38]
Chr2:74590160 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1129A>C (p.Met377Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000699176]|Inborn genetic diseases [RCV002519987]|Neuronopathy, distal hereditary motor, type 7B [RCV000343892]|Perry syndrome [RCV000399184] |
Chr2:74370344 [GRCh38]
Chr2:74597471 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2002C>T (p.His668Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000696804]|DCTN1-related disorder [RCV003969969]|Inborn genetic diseases [RCV002418203]|Neuronopathy, distal hereditary motor, type 7B [RCV000308445]|Perry syndrome [RCV000392721] |
Chr2:74367984 [GRCh38]
Chr2:74595111 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3197-13A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002057711]|Neuronopathy, distal hereditary motor, type 7B [RCV000392129]|Perry syndrome [RCV000311315] |
Chr2:74363641 [GRCh38]
Chr2:74590768 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.*122A>C |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000296751]|Perry syndrome [RCV000385883]|not provided [RCV004709944] |
Chr2:74361377 [GRCh38]
Chr2:74588504 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2213A>G (p.Gln738Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644497]|DCTN1-related disorder [RCV004745345]|Inborn genetic diseases [RCV002429303]|Neuronopathy, distal hereditary motor, type 7B [RCV000399719]|Perry syndrome [RCV000349292] |
Chr2:74367392 [GRCh38]
Chr2:74594519 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_001190836.2(DCTN1):c.-18-2073C>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000312747]|Perry syndrome [RCV000369718] |
Chr2:74380318 [GRCh38]
Chr2:74607445 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1393-7G>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000371599]|Perry syndrome [RCV000260414] |
Chr2:74369498 [GRCh38]
Chr2:74596625 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1692C>T (p.Ala564=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003765649]|not provided [RCV000313236] |
Chr2:74369107 [GRCh38]
Chr2:74596234 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1594C>G (p.Arg532Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001859596]|not provided [RCV000356257] |
Chr2:74369205 [GRCh38]
Chr2:74596332 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1617A>G (p.Glu539=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644486]|DCTN1-related disorder [RCV003930169]|Inborn genetic diseases [RCV002402003]|Neuronopathy, distal hereditary motor, type 7B [RCV001137795]|Perry syndrome [RCV001137796]|not specified [RCV000291318] |
Chr2:74369182 [GRCh38]
Chr2:74596309 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.414+1G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000765701]|DCTN1-related disorder [RCV004529462]|Inborn genetic diseases [RCV002328763]|See cases [RCV002252080]|not provided [RCV000332896] |
Chr2:74376741 [GRCh38]
Chr2:74603868 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.376G>A (p.Ala126Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000553770] |
Chr2:74377449 [GRCh38]
Chr2:74604576 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3397A>G (p.Lys1133Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003766734]|not provided [RCV000487774] |
Chr2:74363126 [GRCh38]
Chr2:74590253 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.991C>T (p.Arg331Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001865501]|not provided [RCV000487832] |
Chr2:74370678 [GRCh38]
Chr2:74597805 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3128G>A (p.Arg1043His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000558488]|not provided [RCV000488183] |
Chr2:74365143 [GRCh38]
Chr2:74592270 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004082.5(DCTN1):c.1577A>G (p.His526Arg) |
single nucleotide variant |
not provided [RCV000488351] |
Chr2:74369307 [GRCh38]
Chr2:74596434 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1393-8T>C |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000375142]|Perry syndrome [RCV000317956] |
Chr2:74369499 [GRCh38]
Chr2:74596626 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1140T>G (p.Leu380=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002519986]|DCTN1-related disorder [RCV004745346]|Inborn genetic diseases [RCV002450911]|Neuronopathy, distal hereditary motor, type 7B [RCV000387824]|Perry syndrome [RCV000296007] |
Chr2:74370333 [GRCh38]
Chr2:74597460 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.-72C>G |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000286495]|Perry syndrome [RCV000335201] |
Chr2:74380109 [GRCh38]
Chr2:74607236 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1065A>T (p.Ala355=) |
single nucleotide variant |
Inborn genetic diseases [RCV002411237]|Neuronopathy, distal hereditary motor, type 7B [RCV000308960]|Perry syndrome [RCV000347523] |
Chr2:74370528 [GRCh38]
Chr2:74597655 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000704940]|Inborn genetic diseases [RCV002348089]|Neuronopathy, distal hereditary motor, type 7B [RCV000353157]|Perry syndrome [RCV000298235] |
Chr2:74361577 [GRCh38]
Chr2:74588704 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3547G>T (p.Ala1183Ser) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000388045]|Perry syndrome [RCV000289027]|not provided [RCV004721336] |
Chr2:74362712 [GRCh38]
Chr2:74589839 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.-262A>G |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV000357407]|Perry syndrome [RCV000392224] |
Chr2:74380299 [GRCh38]
Chr2:74607426 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.-167del |
deletion |
Distal spinal muscular atrophy [RCV004576947]|Perry syndrome [RCV000400072] |
Chr2:74380204 [GRCh38]
Chr2:74607331 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.654G>A (p.Glu218=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000531272]|DCTN1-related disorder [RCV003900189]|Inborn genetic diseases [RCV002367882] |
Chr2:74371168 [GRCh38]
Chr2:74598295 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644472]|DCTN1-related disorder [RCV003900094]|Inborn genetic diseases [RCV002527653]|Neuronopathy, distal hereditary motor, type 7B [RCV001137903]|Parkinsonian disorder [RCV002272277]|Perry syndrome [RCV001137904]|not provided [RCV000756010] |
Chr2:74371149 [GRCh38]
Chr2:74598276 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2680A>G (p.Asn894Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001858005]|DCTN1-related disorder [RCV004545783]|not provided [RCV000522141] |
Chr2:74366324 [GRCh38]
Chr2:74593451 [GRCh37]
Chr2:2p13.1 |
uncertain significance|not provided |
| NM_004082.5(DCTN1):c.1482G>A (p.Ala494=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001474139]|DCTN1-related disorder [RCV003960338]|Inborn genetic diseases [RCV002395409] |
Chr2:74369402 [GRCh38]
Chr2:74596529 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.581C>T (p.Pro194Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002521448]|Dystonic disorder [RCV000415127] |
Chr2:74371601 [GRCh38]
Chr2:74598728 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002506008]|not provided [RCV000416061] |
Chr2:74366542 [GRCh38]
Chr2:74593669 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1127+6G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000535077] |
Chr2:74370460 [GRCh38]
Chr2:74597587 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2731dup (p.Glu911fs) |
duplication |
Amyotrophic lateral sclerosis type 1 [RCV000806014] |
Chr2:74366272..74366273 [GRCh38]
Chr2:74593399..74593400 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.557C>T (p.Pro186Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000685341]|not provided [RCV000418041] |
Chr2:74371625 [GRCh38]
Chr2:74598752 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.824G>A (p.Arg275His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000818888]|Neuronopathy, distal hereditary motor, type 7B [RCV001137899]|Perry syndrome [RCV001137900]|not provided [RCV000418282] |
Chr2:74370998 [GRCh38]
Chr2:74598125 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 |
copy number gain |
See cases [RCV000448688] |
Chr2:62245236..86978895 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004082.5(DCTN1):c.521C>T (p.Ser174Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001851278]|not provided [RCV000482653] |
Chr2:74371661 [GRCh38]
Chr2:74598788 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2647A>T (p.Ser883Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000693605]|DCTN1-related disorder [RCV004745421]|not provided [RCV000482701] |
Chr2:74366357 [GRCh38]
Chr2:74593484 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3010C>G (p.Leu1004Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001463517]|DCTN1-related disorder [RCV003900024]|Inborn genetic diseases [RCV002438188]|not provided [RCV000479029] |
Chr2:74365534 [GRCh38]
Chr2:74592661 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000531764]|See cases [RCV002252163]|not provided [RCV000711411] |
Chr2:74366910 [GRCh38]
Chr2:74594037 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2544T>C (p.Ala848=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000532133]|Inborn genetic diseases [RCV002431637] |
Chr2:74366543 [GRCh38]
Chr2:74593670 [GRCh37]
Chr2:2p13.1 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004082.5(DCTN1):c.1388A>G (p.Asp463Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000698375] |
Chr2:74369969 [GRCh38]
Chr2:74597096 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1 |
copy number loss |
See cases [RCV000510763] |
Chr2:74365484..89129064 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644461]|DCTN1-related disorder [RCV003403486]|Neuronopathy, distal hereditary motor, type 7B [RCV001142313]|Perry syndrome [RCV001142314] |
Chr2:74362099 [GRCh38]
Chr2:74589226 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3017G>A (p.Arg1006Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644462] |
Chr2:74365527 [GRCh38]
Chr2:74592654 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644463]|not provided [RCV003222075] |
Chr2:74366610 [GRCh38]
Chr2:74593737 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3199G>T (p.Glu1067Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644464]|Inborn genetic diseases [RCV002325268] |
Chr2:74363626 [GRCh38]
Chr2:74590753 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3254G>A (p.Gly1085Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644466] |
Chr2:74363385 [GRCh38]
Chr2:74590512 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1102G>A (p.Ala368Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644467] |
Chr2:74370491 [GRCh38]
Chr2:74597618 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644468]|Inborn genetic diseases [RCV002528909] |
Chr2:74365144 [GRCh38]
Chr2:74592271 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3241G>A (p.Val1081Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644469]|DCTN1-related disorder [RCV003403487]|not provided [RCV003326482] |
Chr2:74363398 [GRCh38]
Chr2:74590525 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644470] |
Chr2:74361533 [GRCh38]
Chr2:74588660 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1928G>A (p.Arg643Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000541835] |
Chr2:74368058 [GRCh38]
Chr2:74595185 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1752C>A (p.His584Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644477]|not provided [RCV004588070] |
Chr2:74368830 [GRCh38]
Chr2:74595957 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644479]|Charcot-Marie-Tooth disease [RCV001027492]|DCTN1-related disorder [RCV003965364]|Inborn genetic diseases [RCV002458080] |
Chr2:74362701 [GRCh38]
Chr2:74589828 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.559G>T (p.Ala187Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644480]|Inborn genetic diseases [RCV002343311] |
Chr2:74371623 [GRCh38]
Chr2:74598750 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.159C>T (p.Ala53=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644492]|DCTN1-related disorder [RCV004745528]|Inborn genetic diseases [RCV002397242]|not provided [RCV003884689] |
Chr2:74378120 [GRCh38]
Chr2:74605247 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.450C>T (p.Pro150=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001393136]|Inborn genetic diseases [RCV002334140] |
Chr2:74372931 [GRCh38]
Chr2:74600058 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.279+8C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644499]|DCTN1-related disorder [RCV003918041]|Neuronopathy, distal hereditary motor, type 7B [RCV001140910]|Perry syndrome [RCV001140909] |
Chr2:74377992 [GRCh38]
Chr2:74605119 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1251C>T (p.Ser417=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644500] |
Chr2:74370222 [GRCh38]
Chr2:74597349 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2238G>A (p.Leu746=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644501]|Inborn genetic diseases [RCV002424470] |
Chr2:74367367 [GRCh38]
Chr2:74594494 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2605C>T (p.Leu869=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644503]|DCTN1-related disorder [RCV003892461]|Inborn genetic diseases [RCV002424471] |
Chr2:74366482 [GRCh38]
Chr2:74593609 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.759C>T (p.Ile253=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644504]|Inborn genetic diseases [RCV002388093] |
Chr2:74371063 [GRCh38]
Chr2:74598190 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2952C>G (p.Ala984=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000538172]|Inborn genetic diseases [RCV002438424]|Neuronopathy, distal hereditary motor, type 7B [RCV001137674]|Perry syndrome [RCV001137673]|not provided [RCV001811053] |
Chr2:74365592 [GRCh38]
Chr2:74592719 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3699+16G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002524983]|not provided [RCV000514278] |
Chr2:74362036 [GRCh38]
Chr2:74589163 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.2805C>G (p.Ile935Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000557007]|DCTN1-related disorder [RCV003942813]|Inborn genetic diseases [RCV002438423]|Neuronopathy, distal hereditary motor, type 7B [RCV001137676]|Perry syndrome [RCV001137675]|not provided [RCV001707732] |
Chr2:74365974 [GRCh38]
Chr2:74593101 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000534541]|not provided [RCV001701038] |
Chr2:74365134 [GRCh38]
Chr2:74592261 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.788G>T (p.Ser263Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000536156]|Neuronopathy, distal hereditary motor, type 7B [RCV001137902]|Perry syndrome [RCV001137901]|not provided [RCV003311840] |
Chr2:74371034 [GRCh38]
Chr2:74598161 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1095G>A (p.Glu365=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000559022]|DCTN1-related disorder [RCV003942811]|Inborn genetic diseases [RCV002456160] |
Chr2:74370498 [GRCh38]
Chr2:74597625 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.442C>T (p.Arg148Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644478]|Neuronopathy, distal hereditary motor, type 7B [RCV001329176]|not provided [RCV000517517] |
Chr2:74372939 [GRCh38]
Chr2:74600066 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644459]|DCTN1-related disorder [RCV003403485]|Inborn genetic diseases [RCV002358838]|not provided [RCV004791665]|not specified [RCV003987642] |
Chr2:74370256 [GRCh38]
Chr2:74597383 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2480T>C (p.Leu827Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644460] |
Chr2:74366607 [GRCh38]
Chr2:74593734 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1255G>A (p.Ala419Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644465]|DCTN1-related disorder [RCV003918040]|Inborn genetic diseases [RCV002422329] |
Chr2:74370218 [GRCh38]
Chr2:74597345 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1706T>A (p.Ile569Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644473] |
Chr2:74368876 [GRCh38]
Chr2:74596003 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644474]|not provided [RCV002261151]|not specified [RCV003235324] |
Chr2:74368798 [GRCh38]
Chr2:74595925 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3449G>A (p.Arg1150His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644475]|DCTN1-related disorder [RCV004745527] |
Chr2:74363074 [GRCh38]
Chr2:74590201 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.427C>T (p.Arg143Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644482]|not provided [RCV002245066] |
Chr2:74374328 [GRCh38]
Chr2:74601455 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1288-6A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644483] |
Chr2:74370075 [GRCh38]
Chr2:74597202 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2334A>C (p.Thr778=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001455911] |
Chr2:74366915 [GRCh38]
Chr2:74594042 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3597C>T (p.Val1199=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644488]|DCTN1-related disorder [RCV003892460]|Inborn genetic diseases [RCV002334139] |
Chr2:74362662 [GRCh38]
Chr2:74589789 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.288A>G (p.Val96=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644498] |
Chr2:74377718 [GRCh38]
Chr2:74604845 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.153G>A (p.Leu51=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001438583]|Inborn genetic diseases [RCV002397243] |
Chr2:74378126 [GRCh38]
Chr2:74605253 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644505]|DCTN1-related disorder [RCV003965365]|Inborn genetic diseases [RCV002458081]|Neuronopathy, distal hereditary motor, type 7B [RCV001142315]|Perry syndrome [RCV001142316] |
Chr2:74362108 [GRCh38]
Chr2:74589235 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.42C>T (p.Ser14=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644506]|Inborn genetic diseases [RCV002331195]|not provided [RCV001811139] |
Chr2:74378237 [GRCh38]
Chr2:74605364 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3069C>T (p.Ile1023=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644507]|Inborn genetic diseases [RCV002449031] |
Chr2:74365202 [GRCh38]
Chr2:74592329 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1606A>C (p.Asn536His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000536925]|Inborn genetic diseases [RCV004024055] |
Chr2:74369193 [GRCh38]
Chr2:74596320 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3533C>T (p.Ala1178Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000540954] |
Chr2:74362726 [GRCh38]
Chr2:74589853 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2357A>G (p.Asp786Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000819943]|Inborn genetic diseases [RCV002530849]|not provided [RCV000585600] |
Chr2:74366892 [GRCh38]
Chr2:74594019 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.622C>G (p.Pro208Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003249405] |
Chr2:74371560 [GRCh38]
Chr2:74598687 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2254-5C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000538711]|DCTN1-related disorder [RCV004722900] |
Chr2:74367112 [GRCh38]
Chr2:74594239 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1324A>G (p.Met442Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000535411]|DCTN1-related disorder [RCV004745462]|not specified [RCV003323605] |
Chr2:74370033 [GRCh38]
Chr2:74597160 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.72C>T (p.Ala24=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000543734]|Inborn genetic diseases [RCV002384167] |
Chr2:74378207 [GRCh38]
Chr2:74605334 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2005C>T (p.Arg669Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644481] |
Chr2:74367981 [GRCh38]
Chr2:74595108 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2736T>C (p.Tyr912=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001430015]|Inborn genetic diseases [RCV002440307] |
Chr2:74366268 [GRCh38]
Chr2:74593395 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2217T>G (p.Pro739=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644489]|Inborn genetic diseases [RCV002424468] |
Chr2:74367388 [GRCh38]
Chr2:74594515 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1926G>A (p.Leu642=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644494]|DCTN1-related disorder [RCV004745529]|Inborn genetic diseases [RCV002406406] |
Chr2:74368060 [GRCh38]
Chr2:74595187 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2205T>G (p.Leu735=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644495]|Inborn genetic diseases [RCV002424469] |
Chr2:74367400 [GRCh38]
Chr2:74594527 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3132G>C (p.Thr1044=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000644496]|Inborn genetic diseases [RCV002325269] |
Chr2:74365139 [GRCh38]
Chr2:74592266 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2629-7C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000699017] |
Chr2:74366382 [GRCh38]
Chr2:74593509 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.419C>T (p.Pro140Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000699088] |
Chr2:74374336 [GRCh38]
Chr2:74601463 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000685358]|DCTN1-related disorder [RCV004723063]|Inborn genetic diseases [RCV002331324] |
Chr2:74372935 [GRCh38]
Chr2:74600062 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1364G>A (p.Arg455His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000700452] |
Chr2:74369993 [GRCh38]
Chr2:74597120 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1 |
copy number loss |
not provided [RCV000682167] |
Chr2:74527522..89125488 [GRCh37]
Chr2:2p13.1-11.2 |
pathogenic |
| Single allele |
duplication |
not provided [RCV000677942] |
Chr2:63671346..85698002 [GRCh37]
Chr2:2p15-11.2 |
pathogenic |
| NM_004082.5(DCTN1):c.1997C>T (p.Thr666Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000688124]|DCTN1-related disorder [RCV003403590]|Inborn genetic diseases [RCV002422480]|not provided [RCV001558947] |
Chr2:74367989 [GRCh38]
Chr2:74595116 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.2909A>G (p.Asn970Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000686187] |
Chr2:74365635 [GRCh38]
Chr2:74592762 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1435C>T (p.Arg479Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000704059] |
Chr2:74369449 [GRCh38]
Chr2:74596576 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000689919]|not provided [RCV001619823] |
Chr2:74361537 [GRCh38]
Chr2:74588664 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.232T>C (p.Tyr78His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000707148] |
Chr2:74378047 [GRCh38]
Chr2:74605174 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1998G>A (p.Thr666=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001082480]|Inborn genetic diseases [RCV002422621]|not provided [RCV000711410] |
Chr2:74367988 [GRCh38]
Chr2:74595115 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.627G>T (p.Pro209=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001081572]|Inborn genetic diseases [RCV002360844]|Neuronopathy, distal hereditary motor, type 7B [RCV001140154]|Perry syndrome [RCV001140153]|not provided [RCV000711415] |
Chr2:74371555 [GRCh38]
Chr2:74598682 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000704665]|Inborn genetic diseases [RCV002352205]|not provided [RCV003489835] |
Chr2:74371556 [GRCh38]
Chr2:74598683 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.569C>T (p.Pro190Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000707636] |
Chr2:74371613 [GRCh38]
Chr2:74598740 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2974G>A (p.Glu992Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000702970] |
Chr2:74365570 [GRCh38]
Chr2:74592697 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000703147]|Inborn genetic diseases [RCV004026620]|not provided [RCV001091892] |
Chr2:74369204 [GRCh38]
Chr2:74596331 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000685518]|not provided [RCV001288145] |
Chr2:74367071 [GRCh38]
Chr2:74594198 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000700467]|Amyotrophic lateral sclerosis type 1 [RCV003388594] |
Chr2:74371544 [GRCh38]
Chr2:74598671 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2633A>G (p.Tyr878Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000689468]|Inborn genetic diseases [RCV002458218]|Neuronopathy, distal hereditary motor, type 7B [RCV001139901]|Perry syndrome [RCV001139900] |
Chr2:74366371 [GRCh38]
Chr2:74593498 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000700947] |
Chr2:74368775 [GRCh38]
Chr2:74595902 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| NM_004082.5(DCTN1):c.2747G>A (p.Arg916Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000692480]|Inborn genetic diseases [RCV002440457] |
Chr2:74366257 [GRCh38]
Chr2:74593384 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3573G>A (p.Gln1191=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001087504]|not provided [RCV000711413] |
Chr2:74362686 [GRCh38]
Chr2:74589813 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.823C>T (p.Arg275Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000687767] |
Chr2:74370999 [GRCh38]
Chr2:74598126 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000695826]|DCTN1-related disorder [RCV003392533]|not specified [RCV003403614] |
Chr2:74363424 [GRCh38]
Chr2:74590551 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000690855]|Inborn genetic diseases [RCV002352136]|not specified [RCV004800540] |
Chr2:74361512 [GRCh38]
Chr2:74588639 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3556A>G (p.Met1186Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000690954] |
Chr2:74362703 [GRCh38]
Chr2:74589830 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.279+1G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000685402]|Hereditary motor neuron disease [RCV001027493]|not provided [RCV000991877] |
Chr2:74377999 [GRCh38]
Chr2:74605126 [GRCh37]
Chr2:2p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000694263]|Inborn genetic diseases [RCV002458247]|not provided [RCV001811448] |
Chr2:74362702 [GRCh38]
Chr2:74589829 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000696737]|Inborn genetic diseases [RCV002334325]|not specified [RCV004702340] |
Chr2:74371722 [GRCh38]
Chr2:74598849 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.629T>G (p.Leu210Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000686169] |
Chr2:74371553 [GRCh38]
Chr2:74598680 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2986A>G (p.Thr996Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000706004]|not provided [RCV003329333] |
Chr2:74365558 [GRCh38]
Chr2:74592685 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3029+6G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000696996] |
Chr2:74365509 [GRCh38]
Chr2:74592636 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000706345] |
Chr2:74361558 [GRCh38]
Chr2:74588685 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004082.5(DCTN1):c.1683G>A (p.Glu561=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001478723] |
Chr2:74369116 [GRCh38]
Chr2:74596243 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.645+8C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001426168] |
Chr2:74371529 [GRCh38]
Chr2:74598656 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3700-47C>G |
single nucleotide variant |
not provided [RCV001566779] |
Chr2:74361683 [GRCh38]
Chr2:74588810 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1982G>T (p.Ser661Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001855951]|not provided [RCV000762273] |
Chr2:74368004 [GRCh38]
Chr2:74595131 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.258C>T (p.Gly86=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001067553] |
Chr2:74378021 [GRCh38]
Chr2:74605148 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001036952]|Inborn genetic diseases [RCV002434383]|Perry syndrome [RCV003447313]|not provided [RCV000997178] |
Chr2:74378179 [GRCh38]
Chr2:74605306 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000986780] |
Chr2:74366547 [GRCh38]
Chr2:74593674 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.876C>T (p.Arg292=) |
single nucleotide variant |
not provided [RCV000901544] |
Chr2:74370793 [GRCh38]
Chr2:74597920 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.786G>A (p.Lys262=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001500516] |
Chr2:74371036 [GRCh38]
Chr2:74598163 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1585-10C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001396244] |
Chr2:74369224 [GRCh38]
Chr2:74596351 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2559C>T (p.Ala853=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000902820]|DCTN1-related disorder [RCV003958170]|Neuronopathy, distal hereditary motor, type 7B [RCV001139903]|Perry syndrome [RCV001139902] |
Chr2:74366528 [GRCh38]
Chr2:74593655 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.228G>A (p.Arg76=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000946393] |
Chr2:74378051 [GRCh38]
Chr2:74605178 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.646-9C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001422987] |
Chr2:74371185 [GRCh38]
Chr2:74598312 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1986G>A (p.Leu662=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000983646] |
Chr2:74368000 [GRCh38]
Chr2:74595127 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.36G>A (p.Thr12=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001418825] |
Chr2:74378243 [GRCh38]
Chr2:74605370 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.518C>T (p.Ala173Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001062087] |
Chr2:74371664 [GRCh38]
Chr2:74598791 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2795G>A (p.Arg932His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001041367] |
Chr2:74365984 [GRCh38]
Chr2:74593111 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2303G>A (p.Arg768His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001062028] |
Chr2:74367058 [GRCh38]
Chr2:74594185 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.414+6G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001042130] |
Chr2:74376736 [GRCh38]
Chr2:74603863 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.443G>A (p.Arg148Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001059167] |
Chr2:74372938 [GRCh38]
Chr2:74600065 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.394-10C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001060223]|not provided [RCV004711503] |
Chr2:74376772 [GRCh38]
Chr2:74603899 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1259A>G (p.Glu420Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001037816] |
Chr2:74370214 [GRCh38]
Chr2:74597341 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2054T>G (p.Val685Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002068547]|Hereditary motor neuron disease [RCV000789084]|Inborn genetic diseases [RCV003243297]|Perry syndrome [RCV003447162] |
Chr2:74367826 [GRCh38]
Chr2:74594953 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1270G>C (p.Asp424His) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789085]|Perry syndrome [RCV003447163]|not provided [RCV004588247] |
Chr2:74370203 [GRCh38]
Chr2:74597330 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.432+10C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000983683] |
Chr2:74374313 [GRCh38]
Chr2:74601440 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1266C>T (p.Thr422=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001461794] |
Chr2:74370207 [GRCh38]
Chr2:74597334 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.420G>A (p.Pro140=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001399674] |
Chr2:74374335 [GRCh38]
Chr2:74601462 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.90C>T (p.Gly30=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000918109] |
Chr2:74378189 [GRCh38]
Chr2:74605316 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.663G>A (p.Arg221=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000981278] |
Chr2:74371159 [GRCh38]
Chr2:74598286 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3529+8C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000877479] |
Chr2:74362986 [GRCh38]
Chr2:74590113 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1702-7C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000877480] |
Chr2:74368887 [GRCh38]
Chr2:74596014 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.702G>T (p.Leu234=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000925805]|DCTN1-related disorder [RCV004746162] |
Chr2:74371120 [GRCh38]
Chr2:74598247 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2467-6A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003768889]|DCTN1-related disorder [RCV004746169] |
Chr2:74366626 [GRCh38]
Chr2:74593753 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.280-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000871932]|DCTN1-related disorder [RCV003965748]|Inborn genetic diseases [RCV002434126]|not provided [RCV001692307]|not specified [RCV001664510] |
Chr2:74377729 [GRCh38]
Chr2:74604856 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000953905]|DCTN1-related disorder [RCV004746176]|Inborn genetic diseases [RCV002346162] |
Chr2:74361615 [GRCh38]
Chr2:74588742 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1048+8G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001436297] |
Chr2:74370613 [GRCh38]
Chr2:74597740 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.885G>A (p.Glu295=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001505086] |
Chr2:74370784 [GRCh38]
Chr2:74597911 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2269C>T (p.Leu757=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000918972]|DCTN1-related disorder [RCV004746156] |
Chr2:74367092 [GRCh38]
Chr2:74594219 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1977G>A (p.Ser659=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001480873]|DCTN1-related disorder [RCV003970763] |
Chr2:74368009 [GRCh38]
Chr2:74595136 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1393-6T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002064781]|DCTN1-related disorder [RCV003895355]|Inborn genetic diseases [RCV002390830] |
Chr2:74369497 [GRCh38]
Chr2:74596624 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3699+9dup |
duplication |
Amyotrophic lateral sclerosis type 1 [RCV000873038] |
Chr2:74362042..74362043 [GRCh38]
Chr2:74589169..74589170 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3003C>T (p.Thr1001=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000875497] |
Chr2:74365541 [GRCh38]
Chr2:74592668 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.394-12C>G |
single nucleotide variant |
not provided [RCV003313489] |
Chr2:74376774 [GRCh38]
Chr2:74603901 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3425A>G (p.Glu1142Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000813718] |
Chr2:74363098 [GRCh38]
Chr2:74590225 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000793205] |
Chr2:74361555 [GRCh38]
Chr2:74588682 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1780G>C (p.Asp594His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000802852]|DCTN1-related disorder [RCV004745593]|Inborn genetic diseases [RCV002397624] |
Chr2:74368802 [GRCh38]
Chr2:74595929 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2427T>G (p.Asp809Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000804684]|not provided [RCV001776017] |
Chr2:74366822 [GRCh38]
Chr2:74593949 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3172A>T (p.Thr1058Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000810528] |
Chr2:74365099 [GRCh38]
Chr2:74592226 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1336C>T (p.Arg446Trp) |
single nucleotide variant |
not provided [RCV000997177] |
Chr2:74370021 [GRCh38]
Chr2:74597148 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1481C>T (p.Ala494Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000798559]|Inborn genetic diseases [RCV002388461] |
Chr2:74369403 [GRCh38]
Chr2:74596530 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2879A>G (p.Lys960Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000801455] |
Chr2:74365900 [GRCh38]
Chr2:74593027 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1526C>T (p.Thr509Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000817920]|DCTN1-related disorder [RCV004745614]|Inborn genetic diseases [RCV002390673] |
Chr2:74369358 [GRCh38]
Chr2:74596485 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.458C>T (p.Thr153Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000803687]|Inborn genetic diseases [RCV004028152] |
Chr2:74371724 [GRCh38]
Chr2:74598851 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.851A>G (p.Lys284Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000791910] |
Chr2:74370818 [GRCh38]
Chr2:74597945 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1793G>A (p.Arg598Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000794719] |
Chr2:74368789 [GRCh38]
Chr2:74595916 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2836G>A (p.Glu946Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000800302]|Inborn genetic diseases [RCV002440671] |
Chr2:74365943 [GRCh38]
Chr2:74593070 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2779C>T (p.Arg927Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000805454]|Inborn genetic diseases [RCV002440713] |
Chr2:74366000 [GRCh38]
Chr2:74593127 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.742C>G (p.Leu248Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000820327] |
Chr2:74371080 [GRCh38]
Chr2:74598207 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2015+5G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001452483] |
Chr2:74367966 [GRCh38]
Chr2:74595093 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2872T>G (p.Ser958Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000811910] |
Chr2:74365907 [GRCh38]
Chr2:74593034 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1936G>T (p.Ala646Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000809669]|DCTN1-related disorder [RCV004745601] |
Chr2:74368050 [GRCh38]
Chr2:74595177 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2006G>A (p.Arg669His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000799002]|Inborn genetic diseases [RCV002422727] |
Chr2:74367980 [GRCh38]
Chr2:74595107 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000793029] |
Chr2:74361576 [GRCh38]
Chr2:74588703 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.694G>C (p.Glu232Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000799296] |
Chr2:74371128 [GRCh38]
Chr2:74598255 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1128-3C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000810018] |
Chr2:74370348 [GRCh38]
Chr2:74597475 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1430A>G (p.Asn477Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000793998]|Inborn genetic diseases [RCV004027467] |
Chr2:74369454 [GRCh38]
Chr2:74596581 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1288-10C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000820660]|not provided [RCV004792534] |
Chr2:74370079 [GRCh38]
Chr2:74597206 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000813892] |
Chr2:74362108 [GRCh38]
Chr2:74589235 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000823744] |
Chr2:74361608 [GRCh38]
Chr2:74588735 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000810721]|Neuronopathy, distal hereditary motor, type 7B [RCV001142311]|Perry syndrome [RCV001142312] |
Chr2:74361624 [GRCh38]
Chr2:74588751 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1316T>C (p.Met439Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000814701]|not provided [RCV004792518] |
Chr2:74370041 [GRCh38]
Chr2:74597168 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.45C>T (p.Gly15=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000821818] |
Chr2:74378234 [GRCh38]
Chr2:74605361 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1584+5A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000814802] |
Chr2:74369295 [GRCh38]
Chr2:74596422 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1393-7G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000808851] |
Chr2:74369498 [GRCh38]
Chr2:74596625 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3134T>C (p.Ile1045Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002549964]|Inborn genetic diseases [RCV002320211]|not provided [RCV000997170] |
Chr2:74365137 [GRCh38]
Chr2:74592264 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2020C>T (p.Leu674Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002549965]|Inborn genetic diseases [RCV002416281]|not provided [RCV000997173] |
Chr2:74367860 [GRCh38]
Chr2:74594987 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.142_143delinsAT (p.Gly48Ile) |
indel |
Amyotrophic lateral sclerosis type 1 [RCV000815072] |
Chr2:74378136..74378137 [GRCh38]
Chr2:74605263..74605264 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2083C>T (p.His695Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000818982] |
Chr2:74367797 [GRCh38]
Chr2:74594924 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.279+1G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001858742]|not provided [RCV000991876] |
Chr2:74377999 [GRCh38]
Chr2:74605126 [GRCh37]
Chr2:2p13.1 |
pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.2551C>G (p.Leu851Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000810084]|DCTN1-related disorder [RCV004745603]|Inborn genetic diseases [RCV002440741]|not provided [RCV004721629] |
Chr2:74366536 [GRCh38]
Chr2:74593663 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2467G>A (p.Val823Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000807578] |
Chr2:74366620 [GRCh38]
Chr2:74593747 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2384G>A (p.Arg795His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000808217]|DCTN1-related disorder [RCV004745598] |
Chr2:74366865 [GRCh38]
Chr2:74593992 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.821G>A (p.Arg274Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000794369]|DCTN1-related disorder [RCV004745588] |
Chr2:74371001 [GRCh38]
Chr2:74598128 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002070612]|Neuronopathy, distal hereditary motor, type 7B [RCV001137570]|Perry syndrome [RCV001137569]|not provided [RCV003456474] |
Chr2:74362130 [GRCh38]
Chr2:74589257 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.-162G>A |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001138014]|Perry syndrome [RCV001138015] |
Chr2:74380199 [GRCh38]
Chr2:74607326 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.-263C>G |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001138016]|Perry syndrome [RCV001138017] |
Chr2:74380300 [GRCh38]
Chr2:74607427 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3382C>G (p.Pro1128Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000805023] |
Chr2:74363141 [GRCh38]
Chr2:74590268 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1504C>A (p.Arg502Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000876640]|DCTN1-related disorder [RCV003948249]|Inborn genetic diseases [RCV002390845]|Neuronopathy, distal hereditary motor, type 7B [RCV001140036]|Perry syndrome [RCV001140035] |
Chr2:74369380 [GRCh38]
Chr2:74596507 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.2967G>A (p.Glu989=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002064774] |
Chr2:74365577 [GRCh38]
Chr2:74592704 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3217A>G (p.Ile1073Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000812480]|Inborn genetic diseases [RCV002442720]|not provided [RCV004584806] |
Chr2:74363422 [GRCh38]
Chr2:74590549 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3545C>T (p.Ser1182Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000818640]|not provided [RCV001700309] |
Chr2:74362714 [GRCh38]
Chr2:74589841 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3546G>A (p.Ser1182=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000919953] |
Chr2:74362713 [GRCh38]
Chr2:74589840 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2016-6C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000812937] |
Chr2:74367870 [GRCh38]
Chr2:74594997 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1392+8_1392+9del |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV001476523] |
Chr2:74369956..74369957 [GRCh38]
Chr2:74597083..74597084 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.424G>C (p.Ala142Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000794357]|Inborn genetic diseases [RCV002536978] |
Chr2:74374331 [GRCh38]
Chr2:74601458 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2009A>T (p.Tyr670Phe) |
single nucleotide variant |
Charcot-Marie-Tooth disease [RCV000789087]|Perry syndrome [RCV003447164] |
Chr2:74367977 [GRCh38]
Chr2:74595104 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1225C>T (p.Arg409Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000803250]|DCTN1-related disorder [RCV004745594]|Frontotemporal dementia [RCV001849104]|Inborn genetic diseases [RCV002537155]|not provided [RCV003480838] |
Chr2:74370248 [GRCh38]
Chr2:74597375 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3158C>T (p.Pro1053Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000811243]|DCTN1-related disorder [RCV004745607]|Inborn genetic diseases [RCV002325581] |
Chr2:74365113 [GRCh38]
Chr2:74592240 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2411G>A (p.Arg804Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000800128] |
Chr2:74366838 [GRCh38]
Chr2:74593965 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001494380]|DCTN1-related disorder [RCV003895726] |
Chr2:74361589 [GRCh38]
Chr2:74588716 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3629C>T (p.Thr1210Ile) |
single nucleotide variant |
DCTN1-related disorder [RCV004545806] |
Chr2:74362122 [GRCh38]
Chr2:74589249 [GRCh37]
Chr2:2p13.1 |
not provided |
| NM_004082.5(DCTN1):c.2883T>G (p.Ile961Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000820552]|DCTN1-related disorder [RCV003413655]|Inborn genetic diseases [RCV004609549]|not provided [RCV001508445] |
Chr2:74365896 [GRCh38]
Chr2:74593023 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000797721] |
Chr2:74361560 [GRCh38]
Chr2:74588687 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1486G>C (p.Val496Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000804332]|Inborn genetic diseases [RCV002388506]|not provided [RCV003736907] |
Chr2:74369398 [GRCh38]
Chr2:74596525 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3543G>A (p.Pro1181=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000874613] |
Chr2:74362716 [GRCh38]
Chr2:74589843 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3212-10G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000876395]|DCTN1-related disorder [RCV003920451]|not provided [RCV001811530] |
Chr2:74363437 [GRCh38]
Chr2:74590564 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.597G>A (p.Pro199=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000876421]|DCTN1-related disorder [RCV004746119]|Neuronopathy, distal hereditary motor, type 7B [RCV001140156]|Perry syndrome [RCV001140155] |
Chr2:74371585 [GRCh38]
Chr2:74598712 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1398G>A (p.Ala466=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001498006] |
Chr2:74369486 [GRCh38]
Chr2:74596613 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2617G>A (p.Ala873Thr) |
single nucleotide variant |
not specified [RCV001095497] |
Chr2:74366470 [GRCh38]
Chr2:74593597 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3139G>A (p.Gly1047Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002549963]|not provided [RCV000997169] |
Chr2:74365132 [GRCh38]
Chr2:74592259 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1561C>T (p.Arg521Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003769361]|not provided [RCV000997175] |
Chr2:74369323 [GRCh38]
Chr2:74596450 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001046553]|DCTN1-related disorder [RCV003898052]|Inborn genetic diseases [RCV002393231]|not provided [RCV001288144] |
Chr2:74369380 [GRCh38]
Chr2:74596507 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2549A>T (p.Gln850Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001858856]|not provided [RCV000997171] |
Chr2:74366538 [GRCh38]
Chr2:74593665 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1436G>A (p.Arg479His) |
single nucleotide variant |
not provided [RCV000997176] |
Chr2:74369448 [GRCh38]
Chr2:74596575 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1732G>A (p.Val578Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001197063] |
Chr2:74368850 [GRCh38]
Chr2:74595977 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001228224] |
Chr2:74362722 [GRCh38]
Chr2:74589849 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2065T>A (p.Tyr689Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001213538] |
Chr2:74367815 [GRCh38]
Chr2:74594942 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3407A>G (p.His1136Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001222352] |
Chr2:74363116 [GRCh38]
Chr2:74590243 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001234352]|DCTN1-related disorder [RCV003898225]|Inborn genetic diseases [RCV002411867]|not provided [RCV004778021] |
Chr2:74368745 [GRCh38]
Chr2:74595872 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2103C>G (p.Phe701Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001224259] |
Chr2:74367777 [GRCh38]
Chr2:74594904 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001239607]|DCTN1-related disorder [RCV004746286]|Inborn genetic diseases [RCV002348816] |
Chr2:74361603 [GRCh38]
Chr2:74588730 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3292T>G (p.Ser1098Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001220642] |
Chr2:74363347 [GRCh38]
Chr2:74590474 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001243048] |
Chr2:74378209 [GRCh38]
Chr2:74605336 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1813T>G (p.Cys605Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001217649] |
Chr2:74368769 [GRCh38]
Chr2:74595896 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.371C>G (p.Thr124Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001209785] |
Chr2:74377454 [GRCh38]
Chr2:74604581 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3280C>T (p.Leu1094Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001243523] |
Chr2:74363359 [GRCh38]
Chr2:74590486 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3328G>A (p.Glu1110Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001232155] |
Chr2:74363311 [GRCh38]
Chr2:74590438 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2808del (p.Asp937fs) |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV001228486] |
Chr2:74365971 [GRCh38]
Chr2:74593098 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1595G>T (p.Arg532Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001304481]|not provided [RCV000997174] |
Chr2:74369204 [GRCh38]
Chr2:74596331 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.857C>T (p.Ala286Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001242802]|Charcot-Marie-Tooth disease type 2 [RCV002221617] |
Chr2:74370812 [GRCh38]
Chr2:74597939 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.864G>C (p.Glu288Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001246632] |
Chr2:74370805 [GRCh38]
Chr2:74597932 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.33+3A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001218952]|Inborn genetic diseases [RCV002451497] |
Chr2:74380002 [GRCh38]
Chr2:74607129 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3502G>A (p.Val1168Ile) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001215260] |
Chr2:74363021 [GRCh38]
Chr2:74590148 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2914C>T (p.Arg972Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001219475] |
Chr2:74365630 [GRCh38]
Chr2:74592757 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2357A>T (p.Asp786Val) |
single nucleotide variant |
not provided [RCV003223034] |
Chr2:74366892 [GRCh38]
Chr2:74594019 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001210885]|Inborn genetic diseases [RCV002348693]|Neuronopathy, distal hereditary motor, type 7B [RCV001507093] |
Chr2:74361594 [GRCh38]
Chr2:74588721 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.433-3C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001248366]|not provided [RCV001091893] |
Chr2:74372951 [GRCh38]
Chr2:74600078 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3070G>A (p.Asp1024Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001212338] |
Chr2:74365201 [GRCh38]
Chr2:74592328 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.260T>C (p.Ile87Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001230249] |
Chr2:74378019 [GRCh38]
Chr2:74605146 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003769856]|Neuronopathy, distal hereditary motor, type 7B [RCV001174528] |
Chr2:74376761 [GRCh38]
Chr2:74603888 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1867C>T (p.Arg623Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001211570]|Inborn genetic diseases [RCV003294023] |
Chr2:74368119 [GRCh38]
Chr2:74595246 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095498]|Amyotrophic lateral sclerosis type 1 [RCV001224492]|DCTN1-related disorder [RCV003898086]|not provided [RCV002462327] |
Chr2:74367361 [GRCh38]
Chr2:74594488 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.94C>T (p.Arg32Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095500]|Amyotrophic lateral sclerosis type 1 [RCV001856287] |
Chr2:74378185 [GRCh38]
Chr2:74605312 [GRCh37]
Chr2:2p13.1 |
benign|uncertain significance |
| NM_004082.5(DCTN1):c.835G>A (p.Ala279Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001043296] |
Chr2:74370987 [GRCh38]
Chr2:74598114 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.676G>A (p.Asp226Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001211718]|DCTN1-related disorder [RCV004746272] |
Chr2:74371146 [GRCh38]
Chr2:74598273 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1048+4A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001201571] |
Chr2:74370617 [GRCh38]
Chr2:74597744 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NC_000002.11:g.(?_71004499)_(74779761_?)del |
deletion |
Dystonic disorder [RCV003113211]|Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency [RCV003113210]|not provided [RCV003107716] |
Chr2:71004499..74779761 [GRCh37]
Chr2:2p13.3-13.1 |
pathogenic|no classifications from unflagged records |
| NM_004082.5(DCTN1):c.433-226A>G |
single nucleotide variant |
not provided [RCV001713307] |
Chr2:74373174 [GRCh38]
Chr2:74600301 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.3610-62G>T |
single nucleotide variant |
not provided [RCV001695356] |
Chr2:74362203 [GRCh38]
Chr2:74589330 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.415-675A>G |
single nucleotide variant |
not provided [RCV001708676] |
Chr2:74375015 [GRCh38]
Chr2:74602142 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1855-225C>T |
single nucleotide variant |
not provided [RCV001556639] |
Chr2:74368356 [GRCh38]
Chr2:74595483 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3699+160T>C |
single nucleotide variant |
not provided [RCV001681657] |
Chr2:74361892 [GRCh38]
Chr2:74589019 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1392+148del |
deletion |
not provided [RCV001639789] |
Chr2:74369817 [GRCh38]
Chr2:74596944 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1855-233C>A |
single nucleotide variant |
not provided [RCV001559111] |
Chr2:74368364 [GRCh38]
Chr2:74595491 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1392+129_1392+131dup |
duplication |
not provided [RCV001585043] |
Chr2:74369816..74369817 [GRCh38]
Chr2:74596943..74596944 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1392+185G>T |
single nucleotide variant |
not provided [RCV001552722] |
Chr2:74369780 [GRCh38]
Chr2:74596907 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1855-143C>T |
single nucleotide variant |
not provided [RCV001541802] |
Chr2:74368274 [GRCh38]
Chr2:74595401 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1500G>A (p.Gln500=) |
single nucleotide variant |
not provided [RCV000927376] |
Chr2:74369384 [GRCh38]
Chr2:74596511 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2511C>T (p.Val837=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001394946]|not provided [RCV000932597] |
Chr2:74366576 [GRCh38]
Chr2:74593703 [GRCh37]
Chr2:2p13.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.3492A>G (p.Thr1164=) |
single nucleotide variant |
not provided [RCV000923300] |
Chr2:74363031 [GRCh38]
Chr2:74590158 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.519G>A (p.Ala173=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001489215] |
Chr2:74371663 [GRCh38]
Chr2:74598790 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001438662] |
Chr2:74362085 [GRCh38]
Chr2:74589212 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1288-9G>A |
single nucleotide variant |
not provided [RCV000941367] |
Chr2:74370078 [GRCh38]
Chr2:74597205 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2535A>C (p.Ala845=) |
single nucleotide variant |
not provided [RCV000903595] |
Chr2:74366552 [GRCh38]
Chr2:74593679 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.279+10C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000939231] |
Chr2:74377990 [GRCh38]
Chr2:74605117 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2318G>T (p.Gly773Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001453761]|DCTN1-related disorder [RCV003930835]|Inborn genetic diseases [RCV002444982] |
Chr2:74366931 [GRCh38]
Chr2:74594058 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1470C>T (p.Asp490=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000873667]|DCTN1-related disorder [RCV003920425]|not provided [RCV004808931] |
Chr2:74369414 [GRCh38]
Chr2:74596541 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.394-9_394-7del |
microsatellite |
Amyotrophic lateral sclerosis type 1 [RCV001489241] |
Chr2:74376769..74376771 [GRCh38]
Chr2:74603896..74603898 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.858G>T (p.Ala286=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000874049]|not provided [RCV004710197] |
Chr2:74370811 [GRCh38]
Chr2:74597938 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001431015]|DCTN1-related disorder [RCV003970613] |
Chr2:74361553 [GRCh38]
Chr2:74588680 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1122G>C (p.Leu374=) |
single nucleotide variant |
not provided [RCV000896092] |
Chr2:74370471 [GRCh38]
Chr2:74597598 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3051T>C (p.Asp1017=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001470544] |
Chr2:74365220 [GRCh38]
Chr2:74592347 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.999C>T (p.Asp333=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000951409] |
Chr2:74370670 [GRCh38]
Chr2:74597797 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2761-13G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002070667]|Neuronopathy, distal hereditary motor, type 7B [RCV001139898]|Perry syndrome [RCV001139899] |
Chr2:74366031 [GRCh38]
Chr2:74593158 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001203304]|not provided [RCV003425988] |
Chr2:74361605 [GRCh38]
Chr2:74588732 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3440C>T (p.Ala1147Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001071008] |
Chr2:74363083 [GRCh38]
Chr2:74590210 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001238935] |
Chr2:74362128 [GRCh38]
Chr2:74589255 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3034T>C (p.Phe1012Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001244411] |
Chr2:74365237 [GRCh38]
Chr2:74592364 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001050536]|DCTN1-related disorder [RCV004746214]|Perry syndrome [RCV003447315] |
Chr2:74371550 [GRCh38]
Chr2:74598677 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.177C>T (p.Gly59=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001236632] |
Chr2:74378102 [GRCh38]
Chr2:74605229 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2668C>T (p.Arg890Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001239851] |
Chr2:74366336 [GRCh38]
Chr2:74593463 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1844T>A (p.Leu615His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001219890] |
Chr2:74368738 [GRCh38]
Chr2:74595865 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001036944] |
Chr2:74361586 [GRCh38]
Chr2:74588713 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2588T>C (p.Val863Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001223982]|DCTN1-related disorder [RCV004746278] |
Chr2:74366499 [GRCh38]
Chr2:74593626 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001217573]|Neuronopathy, distal hereditary motor, type 7B [RCV001329175] |
Chr2:74361618 [GRCh38]
Chr2:74588745 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1873C>T (p.Gln625Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001221590] |
Chr2:74368113 [GRCh38]
Chr2:74595240 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3075G>A (p.Gln1025=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000934580]|not provided [RCV004808968] |
Chr2:74365196 [GRCh38]
Chr2:74592323 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.570G>A (p.Pro190=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000955643]|DCTN1-related disorder [RCV004746178]|Neuronopathy, distal hereditary motor, type 7B [RCV001140903]|Perry syndrome [RCV001140904] |
Chr2:74371612 [GRCh38]
Chr2:74598739 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.1155G>A (p.Lys385=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV000890874] |
Chr2:74370318 [GRCh38]
Chr2:74597445 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2886+83A>G |
single nucleotide variant |
not provided [RCV001656802] |
Chr2:74365810 [GRCh38]
Chr2:74592937 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.393+152T>C |
single nucleotide variant |
not provided [RCV001562954] |
Chr2:74377280 [GRCh38]
Chr2:74377280..74377281 [GRCh38]
Chr2:74604407 [GRCh37]
Chr2:74604407..74604408 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.454-127T>C |
single nucleotide variant |
not provided [RCV001717761] |
Chr2:74371855 [GRCh38]
Chr2:74598982 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1392+129_1392+130dup |
duplication |
not provided [RCV001560096] |
Chr2:74369816..74369817 [GRCh38]
Chr2:74596943..74596944 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3530-128T>C |
single nucleotide variant |
not provided [RCV001658569] |
Chr2:74362857 [GRCh38]
Chr2:74589984 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1393-22A>C |
single nucleotide variant |
not provided [RCV001718155] |
Chr2:74369513 [GRCh38]
Chr2:74596640 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1562G>A (p.Arg521His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV003106732] |
Chr2:74369322 [GRCh38]
Chr2:74596449 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1854+139C>T |
single nucleotide variant |
not provided [RCV001671395] |
Chr2:74368589 [GRCh38]
Chr2:74595716 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1360G>C (p.Val454Leu) |
single nucleotide variant |
not provided [RCV001699776] |
Chr2:74369997 [GRCh38]
Chr2:74597124 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3530-41C>A |
single nucleotide variant |
not provided [RCV001717534] |
Chr2:74362770 [GRCh38]
Chr2:74589897 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.280-34A>T |
single nucleotide variant |
not provided [RCV001717147] |
Chr2:74377760 [GRCh38]
Chr2:74604887 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.454-147_454-145del |
microsatellite |
not provided [RCV001616000] |
Chr2:74371873..74371875 [GRCh38]
Chr2:74599000..74599002 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.393+103T>G |
single nucleotide variant |
not provided [RCV001639359] |
Chr2:74377329 [GRCh38]
Chr2:74604456 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_001190836.2(DCTN1):c.-18-2145T>C |
single nucleotide variant |
not provided [RCV001616464] |
Chr2:74380390 [GRCh38]
Chr2:74607517 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.3260del (p.Val1087fs) |
deletion |
not provided [RCV001663460] |
Chr2:74363379 [GRCh38]
Chr2:74590506 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3568G>A (p.Ala1190Thr) |
single nucleotide variant |
not provided [RCV001663461] |
Chr2:74362691 [GRCh38]
Chr2:74589818 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.415-142_415-140del |
deletion |
not provided [RCV001717151] |
Chr2:74374480..74374482 [GRCh38]
Chr2:74601607..74601609 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1393-35C>T |
single nucleotide variant |
not provided [RCV001653319] |
Chr2:74369526 [GRCh38]
Chr2:74596653 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.3610-65G>A |
single nucleotide variant |
not provided [RCV001678391] |
Chr2:74362206 [GRCh38]
Chr2:74589333 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2973C>G (p.Ile991Met) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001142427]|Perry syndrome [RCV001142426] |
Chr2:74365571 [GRCh38]
Chr2:74592698 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2679C>T (p.Cys893=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002537951]|not provided [RCV001813092] |
Chr2:74366325 [GRCh38]
Chr2:74593452 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.*111C>T |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001139690]|Perry syndrome [RCV001139691] |
Chr2:74361388 [GRCh38]
Chr2:74588515 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.345A>G (p.Lys115=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001234581]|Neuronopathy, distal hereditary motor, type 7B [RCV001140907]|Perry syndrome [RCV001140908] |
Chr2:74377661 [GRCh38]
Chr2:74604788 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3345+13C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002070683]|Neuronopathy, distal hereditary motor, type 7B [RCV001140570]|Perry syndrome [RCV001140571] |
Chr2:74363281 [GRCh38]
Chr2:74590408 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3291C>T (p.Ile1097=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002556995]|Neuronopathy, distal hereditary motor, type 7B [RCV001140572]|Perry syndrome [RCV001140573] |
Chr2:74363348 [GRCh38]
Chr2:74590475 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001858917]|DCTN1-related disorder [RCV004726899]|Inborn genetic diseases [RCV002365810]|Neuronopathy, distal hereditary motor, type 7B [RCV001140456]|Perry syndrome [RCV001140457] |
Chr2:74361537 [GRCh38]
Chr2:74588664 [GRCh37]
Chr2:2p13.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004082.5(DCTN1):c.1226G>A (p.Arg409Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001047005]|DCTN1-related disorder [RCV003973033]|Inborn genetic diseases [RCV002553156] |
Chr2:74370247 [GRCh38]
Chr2:74597374 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.674G>A (p.Arg225Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001069619]|Inborn genetic diseases [RCV002365777] |
Chr2:74371148 [GRCh38]
Chr2:74598275 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3610-92C>T |
single nucleotide variant |
not provided [RCV001666211] |
Chr2:74362233 [GRCh38]
Chr2:74589360 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1701+56dup |
duplication |
not provided [RCV001672405] |
Chr2:74369041..74369042 [GRCh38]
Chr2:74596168..74596169 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.1573G>A (p.Ala525Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001048643] |
Chr2:74369311 [GRCh38]
Chr2:74596438 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.874C>T (p.Arg292Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001068373]|Amyotrophic lateral sclerosis type 1 [RCV001535807] |
Chr2:74370795 [GRCh38]
Chr2:74597922 [GRCh37]
Chr2:2p13.1 |
uncertain significance|not provided |
| NM_004082.5(DCTN1):c.2294G>A (p.Gly765Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001217102] |
Chr2:74367067 [GRCh38]
Chr2:74594194 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.287T>C (p.Val96Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001059892] |
Chr2:74377719 [GRCh38]
Chr2:74604846 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.332C>G (p.Ser111Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001035248]|DCTN1-related disorder [RCV004746201]|not provided [RCV004697027] |
Chr2:74377674 [GRCh38]
Chr2:74604801 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001047237]|DCTN1-related disorder [RCV004746212]|not provided [RCV001759769] |
Chr2:74362111 [GRCh38]
Chr2:74589238 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1774A>G (p.Met592Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001206624] |
Chr2:74368808 [GRCh38]
Chr2:74595935 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3152C>T (p.Pro1051Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001201964]|Inborn genetic diseases [RCV002322001] |
Chr2:74365119 [GRCh38]
Chr2:74592246 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2371T>C (p.Cys791Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001057320]|not provided [RCV004792695] |
Chr2:74366878 [GRCh38]
Chr2:74594005 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.547C>T (p.Pro183Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001213537] |
Chr2:74371635 [GRCh38]
Chr2:74598762 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2802G>C (p.Glu934Asp) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001137678]|Perry syndrome [RCV001137677] |
Chr2:74365977 [GRCh38]
Chr2:74593104 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2782G>A (p.Ala928Thr) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001137680]|Perry syndrome [RCV001137679] |
Chr2:74365997 [GRCh38]
Chr2:74593124 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1840C>T (p.Arg614Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001236019] |
Chr2:74368742 [GRCh38]
Chr2:74595869 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001234238]|DCTN1-related disorder [RCV003918792]|Inborn genetic diseases [RCV002348787] |
Chr2:74361578 [GRCh38]
Chr2:74588705 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.539G>A (p.Ser180Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001047919] |
Chr2:74371643 [GRCh38]
Chr2:74598770 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3542C>T (p.Pro1181Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001205129]|Inborn genetic diseases [RCV002451430] |
Chr2:74362717 [GRCh38]
Chr2:74589844 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3461A>G (p.Gln1154Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001213180] |
Chr2:74363062 [GRCh38]
Chr2:74590189 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1262G>A (p.Ser421Asn) |
single nucleotide variant |
not provided [RCV001200632] |
Chr2:74370211 [GRCh38]
Chr2:74597338 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1747C>G (p.Arg583Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001063983] |
Chr2:74368835 [GRCh38]
Chr2:74595962 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3187A>G (p.Ile1063Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002557031]|Neuronopathy, distal hereditary motor, type 7B [RCV001142425]|Perry syndrome [RCV001142424] |
Chr2:74365084 [GRCh38]
Chr2:74592211 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2297G>A (p.Arg766Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001373652]|Neuronopathy, distal hereditary motor, type 7B [RCV001142552]|Perry syndrome [RCV001142551] |
Chr2:74367064 [GRCh38]
Chr2:74594191 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.178G>A (p.Val60Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001055567] |
Chr2:74378101 [GRCh38]
Chr2:74605228 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2793dup (p.Arg932fs) |
duplication |
Amyotrophic lateral sclerosis type 1 [RCV001056143] |
Chr2:74365985..74365986 [GRCh38]
Chr2:74593112..74593113 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1059C>T (p.Gly353=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001448727]|DCTN1-related disorder [RCV003898138]|Neuronopathy, distal hereditary motor, type 7B [RCV001142643]|Perry syndrome [RCV001142642] |
Chr2:74370534 [GRCh38]
Chr2:74597661 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2794C>T (p.Arg932Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095496]|Amyotrophic lateral sclerosis type 1 [RCV002554876]|DCTN1-related disorder [RCV003396746] |
Chr2:74365985 [GRCh38]
Chr2:74593112 [GRCh37]
Chr2:2p13.1 |
benign|uncertain significance |
| NM_004082.5(DCTN1):c.2237T>C (p.Leu746Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001095499] |
Chr2:74367368 [GRCh38]
Chr2:74594495 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001052667] |
Chr2:74366318 [GRCh38]
Chr2:74593445 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2989C>T (p.Arg997Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001305021]|Perry syndrome [RCV001253568] |
Chr2:74365555 [GRCh38]
Chr2:74592682 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.575C>T (p.Ala192Val) |
single nucleotide variant |
not provided [RCV002284848] |
Chr2:74371607 [GRCh38]
Chr2:74598734 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_004082.5(DCTN1):c.1585-13TC[2] |
microsatellite |
Amyotrophic lateral sclerosis type 1 [RCV001313672] |
Chr2:74369222..74369223 [GRCh38]
Chr2:74596349..74596350 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3145C>T (p.Arg1049Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001871686]|not provided [RCV001813030] |
Chr2:74365126 [GRCh38]
Chr2:74592253 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.858G>C (p.Ala286=) |
single nucleotide variant |
not provided [RCV001288146] |
Chr2:74370811 [GRCh38]
Chr2:74597938 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1864A>T (p.Ile622Phe) |
single nucleotide variant |
Amyotrophic lateral sclerosis [RCV001260558] |
Chr2:74368122 [GRCh38]
Chr2:74595249 [GRCh37]
Chr2:2p13.1 |
likely pathogenic |
| NM_004082.5(DCTN1):c.1868G>A (p.Arg623Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001325195]|Inborn genetic diseases [RCV002543865] |
Chr2:74368118 [GRCh38]
Chr2:74595245 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2401A>G (p.Ile801Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001314167]|Inborn genetic diseases [RCV002447328]|not specified [RCV004782704] |
Chr2:74366848 [GRCh38]
Chr2:74593975 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1232G>T (p.Arg411Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001351125] |
Chr2:74370241 [GRCh38]
Chr2:74597368 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3212-2A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001339749] |
Chr2:74363429 [GRCh38]
Chr2:74590556 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1600C>G (p.Leu534Val) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001329174] |
Chr2:74369199 [GRCh38]
Chr2:74596326 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2964T>A (p.Asp988Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001296024] |
Chr2:74365580 [GRCh38]
Chr2:74592707 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3353A>T (p.Gln1118Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001321676] |
Chr2:74363170 [GRCh38]
Chr2:74590297 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.373A>G (p.Thr125Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001349379]|not provided [RCV003145599] |
Chr2:74377452 [GRCh38]
Chr2:74604579 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.35C>T (p.Thr12Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001309608]|Inborn genetic diseases [RCV002456401] |
Chr2:74378244 [GRCh38]
Chr2:74605371 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.461G>A (p.Arg154His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001352072] |
Chr2:74371721 [GRCh38]
Chr2:74598848 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2089C>T (p.Arg697Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001298483] |
Chr2:74367791 [GRCh38]
Chr2:74594918 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001434097] |
Chr2:74362058 [GRCh38]
Chr2:74589185 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3700-4C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001414519] |
Chr2:74361640 [GRCh38]
Chr2:74588767 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3444G>A (p.Leu1148=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001433141] |
Chr2:74363079 [GRCh38]
Chr2:74590206 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.200G>T (p.Gly67Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001372956]|not provided [RCV003229051] |
Chr2:74378079 [GRCh38]
Chr2:74605206 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2031C>T (p.Cys677=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001433331] |
Chr2:74367849 [GRCh38]
Chr2:74594976 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2015+3A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001301332]|Inborn genetic diseases [RCV002418908]|Neuronopathy, distal hereditary motor, type 7B [RCV001336113] |
Chr2:74367968 [GRCh38]
Chr2:74595095 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001345635] |
Chr2:74361525 [GRCh38]
Chr2:74588652 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001319933] |
Chr2:74361581 [GRCh38]
Chr2:74588708 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3129C>T (p.Arg1043=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001297008] |
Chr2:74365142 [GRCh38]
Chr2:74592269 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001306512] |
Chr2:74361635 [GRCh38]
Chr2:74588762 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1179G>C (p.Lys393Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001298031] |
Chr2:74370294 [GRCh38]
Chr2:74597421 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1105C>T (p.Arg369Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001345914] |
Chr2:74370488 [GRCh38]
Chr2:74597615 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1048+3A>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001346895] |
Chr2:74370618 [GRCh38]
Chr2:74597745 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3518G>A (p.Arg1173His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001346090]|Inborn genetic diseases [RCV002456499] |
Chr2:74363005 [GRCh38]
Chr2:74590132 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2387A>G (p.Gln796Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001347405] |
Chr2:74366862 [GRCh38]
Chr2:74593989 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NC_000002.11:g.(?_74588271)_(74607174_?)del |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV001314117] |
Chr2:74588271..74607174 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1610A>G (p.Gln537Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001340033] |
Chr2:74369189 [GRCh38]
Chr2:74596316 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1916G>T (p.Arg639Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001359523] |
Chr2:74368070 [GRCh38]
Chr2:74595197 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1288-7_1289del |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV001345412] |
Chr2:74370068..74370076 [GRCh38]
Chr2:74597195..74597203 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2410C>T (p.Arg804Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001370669] |
Chr2:74366839 [GRCh38]
Chr2:74593966 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.570G>T (p.Pro190=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001421206] |
Chr2:74371612 [GRCh38]
Chr2:74598739 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.317C>A (p.Pro106Gln) |
single nucleotide variant |
Neuronopathy, distal hereditary motor, type 7B [RCV001336114] |
Chr2:74377689 [GRCh38]
Chr2:74604816 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1461G>A (p.Glu487=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001412621] |
Chr2:74369423 [GRCh38]
Chr2:74596550 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3175C>G (p.Leu1059Val) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001367664] |
Chr2:74365096 [GRCh38]
Chr2:74592223 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1456C>T (p.Arg486Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001340708]|not provided [RCV004770077] |
Chr2:74369428 [GRCh38]
Chr2:74596555 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.403A>C (p.Lys135Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001316492] |
Chr2:74376753 [GRCh38]
Chr2:74603880 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001367374]|not provided [RCV004597989] |
Chr2:74378236 [GRCh38]
Chr2:74605363 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.844-5C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001365505] |
Chr2:74370830 [GRCh38]
Chr2:74597957 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3196+8C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001412892] |
Chr2:74365067 [GRCh38]
Chr2:74592194 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001295035]|Inborn genetic diseases [RCV002451650] |
Chr2:74362140 [GRCh38]
Chr2:74589267 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2383C>T (p.Arg795Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001324582]|not provided [RCV002223301] |
Chr2:74366866 [GRCh38]
Chr2:74593993 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2071G>C (p.Glu691Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001317701] |
Chr2:74367809 [GRCh38]
Chr2:74594936 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001359624]|DCTN1-related disorder [RCV004746341] |
Chr2:74361526 [GRCh38]
Chr2:74588653 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1863G>C (p.Leu621=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001469422] |
Chr2:74368123 [GRCh38]
Chr2:74595250 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1542G>A (p.Gln514=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001473117] |
Chr2:74369342 [GRCh38]
Chr2:74596469 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2382C>A (p.Ile794=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001484317] |
Chr2:74366867 [GRCh38]
Chr2:74593994 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2835C>T (p.Leu945=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001455069]|not provided [RCV003426109] |
Chr2:74365944 [GRCh38]
Chr2:74593071 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.426C>T (p.Ala142=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001417084] |
Chr2:74374329 [GRCh38]
Chr2:74601456 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1447C>T (p.Leu483=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001490908] |
Chr2:74369437 [GRCh38]
Chr2:74596564 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2328G>A (p.Glu776=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001475306] |
Chr2:74366921 [GRCh38]
Chr2:74594048 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1855-7C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001425318] |
Chr2:74368138 [GRCh38]
Chr2:74595265 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2835C>A (p.Leu945=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001417440] |
Chr2:74365944 [GRCh38]
Chr2:74593071 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3123C>G (p.Ser1041=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001500512]|DCTN1-related disorder [RCV003908788]|not provided [RCV003312002] |
Chr2:74365148 [GRCh38]
Chr2:74592275 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.280-5C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001477056]|Inborn genetic diseases [RCV003375315] |
Chr2:74377731 [GRCh38]
Chr2:74604858 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001483893] |
Chr2:74362091 [GRCh38]
Chr2:74589218 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1770C>T (p.Ala590=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001475785] |
Chr2:74368812 [GRCh38]
Chr2:74595939 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.396G>C (p.Arg132=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001468829] |
Chr2:74376760 [GRCh38]
Chr2:74603887 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.359-4A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001427129] |
Chr2:74377470 [GRCh38]
Chr2:74604597 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1585-5C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001474854] |
Chr2:74369219 [GRCh38]
Chr2:74596346 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1248A>G (p.Leu416=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001435625] |
Chr2:74370225 [GRCh38]
Chr2:74597352 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3309C>T (p.His1103=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001423410] |
Chr2:74363330 [GRCh38]
Chr2:74590457 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.858G>A (p.Ala286=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001407380] |
Chr2:74370811 [GRCh38]
Chr2:74597938 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2823G>A (p.Leu941=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001402313]|DCTN1-related disorder [RCV003963279] |
Chr2:74365956 [GRCh38]
Chr2:74593083 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.990G>A (p.Glu330=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001407606] |
Chr2:74370679 [GRCh38]
Chr2:74597806 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.359-10C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001407666] |
Chr2:74377476 [GRCh38]
Chr2:74604603 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1002G>A (p.Glu334=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001447053] |
Chr2:74370667 [GRCh38]
Chr2:74597794 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2532G>C (p.Val844=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001434571] |
Chr2:74366555 [GRCh38]
Chr2:74593682 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2418A>G (p.Pro806=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001431134] |
Chr2:74366831 [GRCh38]
Chr2:74593958 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2523G>T (p.Leu841=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001423885]|DCTN1-related disorder [RCV003900456] |
Chr2:74366564 [GRCh38]
Chr2:74593691 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2925C>T (p.Leu975=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001429395] |
Chr2:74365619 [GRCh38]
Chr2:74592746 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001408389] |
Chr2:74361589 [GRCh38]
Chr2:74588716 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2397G>A (p.Lys799=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001431808] |
Chr2:74366852 [GRCh38]
Chr2:74593979 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3610-6C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001416341] |
Chr2:74362147 [GRCh38]
Chr2:74589274 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1170G>A (p.Lys390=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001427177] |
Chr2:74370303 [GRCh38]
Chr2:74597430 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2761-5C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001440364]|Inborn genetic diseases [RCV003160771] |
Chr2:74366023 [GRCh38]
Chr2:74593150 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.81G>A (p.Leu27=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001431963] |
Chr2:74378198 [GRCh38]
Chr2:74605325 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.588C>T (p.Ile196=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001411274] |
Chr2:74371594 [GRCh38]
Chr2:74598721 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2499C>T (p.His833=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001428477] |
Chr2:74366588 [GRCh38]
Chr2:74593715 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.903T>C (p.Ala301=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001445914] |
Chr2:74370766 [GRCh38]
Chr2:74597893 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1707T>C (p.Ile569=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001468996] |
Chr2:74368875 [GRCh38]
Chr2:74596002 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.645+10G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001479245] |
Chr2:74371527 [GRCh38]
Chr2:74598654 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3609+244C>A |
single nucleotide variant |
not provided [RCV001713395] |
Chr2:74362406 [GRCh38]
Chr2:74589533 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.433-259G>A |
single nucleotide variant |
not provided [RCV001688422] |
Chr2:74373207 [GRCh38]
Chr2:74600334 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.33+9C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001452066] |
Chr2:74379996 [GRCh38]
Chr2:74607123 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1128-55C>T |
single nucleotide variant |
not provided [RCV001669408] |
Chr2:74370400 [GRCh38]
Chr2:74597527 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.3197-21C>G |
single nucleotide variant |
not provided [RCV001589563] |
Chr2:74363649 [GRCh38]
Chr2:74590776 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.359-80G>A |
single nucleotide variant |
not provided [RCV001614492] |
Chr2:74377546 [GRCh38]
Chr2:74604673 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.2373C>T (p.Cys791=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001477662] |
Chr2:74366876 [GRCh38]
Chr2:74594003 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.844-32G>T |
single nucleotide variant |
not provided [RCV001612271] |
Chr2:74370857 [GRCh38]
Chr2:74597984 [GRCh37]
Chr2:2p13.1 |
benign |
| NM_004082.5(DCTN1):c.336T>G (p.Ser112=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001505097] |
Chr2:74377670 [GRCh38]
Chr2:74604797 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1702-8C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001454292] |
Chr2:74368888 [GRCh38]
Chr2:74596015 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001465332]|DCTN1-related disorder [RCV004746399] |
Chr2:74362097 [GRCh38]
Chr2:74589224 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.2292A>G (p.Val764=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001453069] |
Chr2:74367069 [GRCh38]
Chr2:74594196 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3174T>G (p.Thr1058=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001482786] |
Chr2:74365097 [GRCh38]
Chr2:74592224 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1947A>G (p.Gln649=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001482921]|DCTN1-related disorder [RCV003956069] |
Chr2:74368039 [GRCh38]
Chr2:74595166 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.843+9C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001464860]|DCTN1-related disorder [RCV003956016] |
Chr2:74370970 [GRCh38]
Chr2:74598097 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1227G>C (p.Arg409=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001471272] |
Chr2:74370246 [GRCh38]
Chr2:74597373 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1127+8C>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001455822] |
Chr2:74370458 [GRCh38]
Chr2:74597585 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1867C>A (p.Arg623=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001464582] |
Chr2:74368119 [GRCh38]
Chr2:74595246 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1585-6T>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001485003] |
Chr2:74369220 [GRCh38]
Chr2:74596347 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3197-8G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001505350] |
Chr2:74363636 [GRCh38]
Chr2:74590763 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1288-10C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001483732]|DCTN1-related disorder [RCV003900669] |
Chr2:74370079 [GRCh38]
Chr2:74597206 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2814T>C (p.Ala938=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001468151] |
Chr2:74365965 [GRCh38]
Chr2:74593092 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2520G>A (p.Val840=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001497284] |
Chr2:74366567 [GRCh38]
Chr2:74593694 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.645+10G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001489641] |
Chr2:74371527 [GRCh38]
Chr2:74598654 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.627G>A (p.Pro209=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001401003]|DCTN1-related disorder [RCV003920878] |
Chr2:74371555 [GRCh38]
Chr2:74598682 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1420C>T (p.Leu474=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001502805] |
Chr2:74369464 [GRCh38]
Chr2:74596591 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2112A>G (p.Glu704=) |
single nucleotide variant |
not provided [RCV001730366] |
Chr2:74367768 [GRCh38]
Chr2:74594895 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.1523A>G (p.Glu508Gly) |
single nucleotide variant |
not provided [RCV001768386] |
Chr2:74369361 [GRCh38]
Chr2:74596488 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002544165]|not provided [RCV001757312] |
Chr2:74362092 [GRCh38]
Chr2:74589219 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1701+82G>T |
single nucleotide variant |
not provided [RCV001776798] |
Chr2:74369016 [GRCh38]
Chr2:74596143 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.280-34_280-12dup |
duplication |
Amyotrophic lateral sclerosis type 1 [RCV002077243]|not provided [RCV001812615] |
Chr2:74377737..74377738 [GRCh38]
Chr2:74604864..74604865 [GRCh37]
Chr2:2p13.1 |
benign|likely benign |
| NM_004082.5(DCTN1):c.3517C>T (p.Arg1173Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001914837] |
Chr2:74363006 [GRCh38]
Chr2:74590133 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3373T>A (p.Ser1125Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001874486] |
Chr2:74363150 [GRCh38]
Chr2:74590277 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1483C>T (p.Arg495Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002025011] |
Chr2:74369401 [GRCh38]
Chr2:74596528 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del) |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV002025912] |
Chr2:74362111..74362113 [GRCh38]
Chr2:74589238..74589240 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1505G>A (p.Arg502His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001896003]|Inborn genetic diseases [RCV003166918]|not specified [RCV004801076] |
Chr2:74369379 [GRCh38]
Chr2:74596506 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2550G>C (p.Gln850His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001987684] |
Chr2:74366537 [GRCh38]
Chr2:74593664 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.418C>A (p.Pro140Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001928967] |
Chr2:74374337 [GRCh38]
Chr2:74601464 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3529+3A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001928976]|Inborn genetic diseases [RCV002458819] |
Chr2:74362991 [GRCh38]
Chr2:74590118 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1366G>A (p.Glu456Lys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001863997] |
Chr2:74369991 [GRCh38]
Chr2:74597118 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2969G>A (p.Arg990His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001893906]|Inborn genetic diseases [RCV002440999]|not provided [RCV003146323] |
Chr2:74365575 [GRCh38]
Chr2:74592702 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.432+1G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001895182]|not provided [RCV002276921] |
Chr2:74374322 [GRCh38]
Chr2:74601449 [GRCh37]
Chr2:2p13.1 |
likely pathogenic|uncertain significance |
| NM_004082.5(DCTN1):c.613G>C (p.Gly205Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001988163]|Inborn genetic diseases [RCV002352696] |
Chr2:74371569 [GRCh38]
Chr2:74598696 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1022T>G (p.Ile341Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002025123] |
Chr2:74370647 [GRCh38]
Chr2:74597774 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002007692] |
Chr2:74361595 [GRCh38]
Chr2:74588722 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1009A>G (p.Thr337Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002023422] |
Chr2:74370660 [GRCh38]
Chr2:74597787 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.422C>G (p.Thr141Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001915269] |
Chr2:74374333 [GRCh38]
Chr2:74601460 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2926C>A (p.Leu976Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001864362] |
Chr2:74365618 [GRCh38]
Chr2:74592745 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3212-6C>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002022363]|DCTN1-related disorder [RCV004729030] |
Chr2:74363433 [GRCh38]
Chr2:74590560 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.1750C>A (p.His584Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001892863] |
Chr2:74368832 [GRCh38]
Chr2:74595959 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.223G>A (p.Gly75Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001891722] |
Chr2:74378056 [GRCh38]
Chr2:74605183 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.626C>G (p.Pro209Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002001832] |
Chr2:74371556 [GRCh38]
Chr2:74598683 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1082A>G (p.Lys361Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002040556]|Inborn genetic diseases [RCV003303635] |
Chr2:74370511 [GRCh38]
Chr2:74597638 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.155T>C (p.Phe52Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001870895] |
Chr2:74378124 [GRCh38]
Chr2:74605251 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.623C>T (p.Pro208Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001889548] |
Chr2:74371559 [GRCh38]
Chr2:74598686 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2039A>G (p.Asp680Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002004263] |
Chr2:74367841 [GRCh38]
Chr2:74594968 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.428G>A (p.Arg143Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001966743]|Inborn genetic diseases [RCV004042168] |
Chr2:74374327 [GRCh38]
Chr2:74601454 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2429C>G (p.Ala810Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001946264] |
Chr2:74366820 [GRCh38]
Chr2:74593947 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.442C>G (p.Arg148Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001965356] |
Chr2:74372939 [GRCh38]
Chr2:74600066 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3497C>G (p.Thr1166Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001927784] |
Chr2:74363026 [GRCh38]
Chr2:74590153 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1238A>G (p.Gln413Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001949159]|not provided [RCV002463079] |
Chr2:74370235 [GRCh38]
Chr2:74597362 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3107G>A (p.Arg1036His) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002005332] |
Chr2:74365164 [GRCh38]
Chr2:74592291 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3529+13C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002042304] |
Chr2:74362981 [GRCh38]
Chr2:74590108 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.2180A>G (p.Tyr727Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001895354] |
Chr2:74367700 [GRCh38]
Chr2:74594827 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.626C>A (p.Pro209Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001966300] |
Chr2:74371556 [GRCh38]
Chr2:74598683 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.121C>T (p.Arg41Ter) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001983521] |
Chr2:74378158 [GRCh38]
Chr2:74605285 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002042286] |
Chr2:74363305 [GRCh38]
Chr2:74590432 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2622C>T (p.Ser874=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001913358]|DCTN1-related disorder [RCV003401856] |
Chr2:74366465 [GRCh38]
Chr2:74593592 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2015+1G>C |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001987016] |
Chr2:74367970 [GRCh38]
Chr2:74595097 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2296C>T (p.Arg766Trp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002024447] |
Chr2:74367065 [GRCh38]
Chr2:74594192 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001908164] |
Chr2:74361582 [GRCh38]
Chr2:74588709 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1274A>C (p.Glu425Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001908278] |
Chr2:74370199 [GRCh38]
Chr2:74597326 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001948120] |
Chr2:74361585 [GRCh38]
Chr2:74588712 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1552AAG[1] (p.Lys519del) |
microsatellite |
Amyotrophic lateral sclerosis type 1 [RCV002002755] |
Chr2:74369327..74369329 [GRCh38]
Chr2:74596454..74596456 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3326A>G (p.His1109Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002002886] |
Chr2:74363313 [GRCh38]
Chr2:74590440 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1944G>T (p.Glu648Asp) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001895475] |
Chr2:74368042 [GRCh38]
Chr2:74595169 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2341G>T (p.Ala781Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001928676] |
Chr2:74366908 [GRCh38]
Chr2:74594035 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.920C>G (p.Ala307Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002006938] |
Chr2:74370749 [GRCh38]
Chr2:74597876 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1983C>A (p.Ser661Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001970387] |
Chr2:74368003 [GRCh38]
Chr2:74595130 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3610-13_3612del |
deletion |
Amyotrophic lateral sclerosis type 1 [RCV001985189] |
Chr2:74362139..74362154 [GRCh38]
Chr2:74589266..74589281 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1489C>T (p.Arg497Cys) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002004088] |
Chr2:74369395 [GRCh38]
Chr2:74596522 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.727G>T (p.Ala243Ser) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001963672] |
Chr2:74371095 [GRCh38]
Chr2:74598222 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.122G>A (p.Arg41Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001978078] |
Chr2:74378157 [GRCh38]
Chr2:74605284 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2525A>G (p.Gln842Arg) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001942350] |
Chr2:74366562 [GRCh38]
Chr2:74593689 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2585T>C (p.Leu862Pro) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001888542] |
Chr2:74366502 [GRCh38]
Chr2:74593629 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.414+1G>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001981751]|not provided [RCV003146397] |
Chr2:74376741 [GRCh38]
Chr2:74603868 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.32G>A (p.Arg11Gln) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001960033] |
Chr2:74380006 [GRCh38]
Chr2:74607133 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.1527G>A (p.Thr509=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002035406] |
Chr2:74369357 [GRCh38]
Chr2:74596484 [GRCh37]
Chr2:2p13.1 |
likely benign |
| NM_004082.5(DCTN1):c.3430C>A (p.Pro1144Thr) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001879230] |
Chr2:74363093 [GRCh38]
Chr2:74590220 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3564A>G (p.Gln1188=) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002019786] |
Chr2:74362695 [GRCh38]
Chr2:74589822 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2439C>G (p.Ile813Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002014911] |
Chr2:74366810 [GRCh38]
Chr2:74593937 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2253+4A>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001930267] |
Chr2:74367348 [GRCh38]
Chr2:74594475 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.793A>T (p.Met265Leu) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV002017193] |
Chr2:74371029 [GRCh38]
Chr2:74598156 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3699+12C>T |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001918436] |
Chr2:74362040 [GRCh38]
Chr2:74589167 [GRCh37]
Chr2:2p13.1 |
likely benign|uncertain significance |
| NM_004082.5(DCTN1):c.427C>G (p.Arg143Gly) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001997863] |
Chr2:74374328 [GRCh38]
Chr2:74601455 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2316+5G>A |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001888314] |
Chr2:74367040 [GRCh38]
Chr2:74594167 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.2809G>A (p.Asp937Asn) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001962242] |
Chr2:74365970 [GRCh38]
Chr2:74593097 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.3497C>T (p.Thr1166Met) |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001943613]|Inborn genetic diseases [RCV002458807] |
Chr2:74363026 [GRCh38]
Chr2:74590153 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.844-2A>G |
single nucleotide variant |
Amyotrophic lateral sclerosis type 1 [RCV001901774] |
Chr2:74370827 [GRCh38]
Chr2:74597954 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
| NM_004082.5(DCTN1):c.394-2dup |
duplication |
Amyotrophic lateral sclerosis type 1 [RCV002026791] |
Chr2:74376763..74376764 [GRCh38]
Chr2:74603890..74603891 [GRCh37]
Chr2:2p13.1 |
uncertain significance |
|
