DCTN1 — 1540 ClinVar variants

All ClinVar germline DCTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 745 flagged for review →

6 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 72 Conflicting · 48 Benign · 44 Benign/Likely benign · 563 Likely benign · 799 Uncertain significance

Full DCTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 745

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DCTN1 p.Arg1275Cys Likely pathogenic Single submitter
amyotrophic lateral sclerosis type 1

Predictors agree, ClinVar conflicts 28

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DCTN1 p.Arg1043His Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg149Gln Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg409Gln Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Arg495Gln Conflicting Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Arg916Gln Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asn1160His Conflicting Single submitter
Perry syndrome
DCTN1 p.Asn894Ser Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Gln1238Glu Conflicting Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Gln1266Lys Conflicting Single submitter
amyotrophic lateral sclerosis
DCTN1 p.Glu1267Gln Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Gly205Arg Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Gly67Val Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile1063Val Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile1073Val Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Ile196Val Conflicting Single submitter
amyotrophic lateral sclerosis
DCTN1 p.Ile961Met Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Leu851Val Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Lys1208Arg Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys361Arg Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Met1186Ile Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Met1186Thr Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Met1245Val Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Met760Val Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Pro109Thr Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser1135Pro Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Ser883Cys Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Gly67Asp Conflicting No assertion criteria
Perry syndrome
DCTN1 p.Gly71Arg Conflicting No assertion criteria
Perry syndrome

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

DCTN1 c.279+1G>A Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 c.414+1G>A Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 c.432+1G>T Conflicting Single submitter
amyotrophic lateral sclerosis type 1

Predictors lean, ClinVar uncertain 430

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 430

DCTN1 p.Ala1072Gly Uncertain significance Multiple submitters
DCTN1-related disorder
DCTN1 p.Ala1183Ser Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Ala1253Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala142Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala163Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala187Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala192Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala20Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala24Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala307Gly Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala354Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala368Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala494Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala568Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala646Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala849Thr Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Arg1036Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg1101Lys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1173His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg1214Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1275His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg132Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg143Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg148Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg238Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg28Trp Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg331Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg378Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg406Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg486Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg502His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg521Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg521His Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg614His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg623Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg639Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg766Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg804Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg90His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg927Trp Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Asn536His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Asn716Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asn716Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asn894Asp Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Asp1204Gly Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp1240Tyr Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Asp226Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp490Tyr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp594His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Asp809Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Cys605Gly Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Gln413Arg Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Glu1205Asp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Glu34Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Glu737Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Gly1062Asp Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Gly1085Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Gly15Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Gly963Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.His1270Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile1045Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile1045Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile569Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile780Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ile801Val Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Ile87Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ile961Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Leu1134Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Leu573Phe Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Leu702Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Leu896Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys1008Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys1133Glu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys1179Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys329Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Lys393Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys556Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Lys985Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Met442Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Met744Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro1051Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro1084Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro1220His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro209Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro213Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser1153Gly Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser1182Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser421Asn Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Ser678Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser687Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr1166Met Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr1210Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr1218Ala Uncertain significance Multiple submitters
DCTN1-related disorder
DCTN1 p.Thr125Ala Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Thr145Ser Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Thr147Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr509Met Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Thr562Ile Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Thr826Met Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Thr996Ala Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Tyr1244Cys Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Tyr886Cys Uncertain significance Multiple submitters
DCTN1-related disorder
DCTN1 p.Val1243Ala Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Val1248Met Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Val496Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Val60Met Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1099Ser Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Ala1145Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1178Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1190Ser Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Ala1190Thr Uncertain significance Single submitter
DCTN1 p.Ala1234Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1234Val Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Ala126Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala139Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala142Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala173Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala173Val Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Ala175Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala193Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala243Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala24Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala270Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala354Gly Uncertain significance Single submitter
DCTN1 p.Ala354Ser Uncertain significance Single submitter
DCTN1 p.Ala368Gly Uncertain significance Single submitter
DCTN1 p.Ala494Glu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala505Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala506Val Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Ala540Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala540Val Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Ala560Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala566Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala619Val Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Ala626Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala694Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala781Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala810Val Uncertain significance Single submitter
DCTN1 p.Ala839Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala847Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala849Ser Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Ala870Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala904Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala984Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1006Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1070Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1150His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1173Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1173Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg11Gln Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B

Predictors split 283

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 283

DCTN1 p.Ala1099Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala286Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala419Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala466Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ala581Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala756Val Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala929Thr Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg1049Trp Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg1150Cys Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg132Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg154Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg225Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg274Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg275His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg32His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg331Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg411His Likely benign Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg411Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg502Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg532Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg532Gly Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg532Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg623Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg639Trp Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Arg669Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg669His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg669Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg697His Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Arg768His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg795Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg890Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg916Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg990His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg997Trp Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asn477Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Asp424His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp741Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp748Glu Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Asp786Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Asp793His Uncertain significance Multiple submitters
DCTN1 p.Asp947Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Cys791Arg Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Gln1271His Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Gln400Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Gln850Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Glu1267Lys Benign/Likely benign Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Glu946Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Gly601Ala Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.His584Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.His729Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ile346Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Leu391Ile Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Leu674Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Met439Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Met592Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro106Gln Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro106Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro1181Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro1215Ala Benign/Likely benign Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro186Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro190Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro194Leu Uncertain significance Multiple submitters
Perry syndrome
DCTN1 p.Pro613Ser Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro690Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro811Arg Benign/Likely benign Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro885Thr Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Pro917Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Pro923Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Ser111Cys Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser1122Phe Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser174Leu Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser595Asn Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ser661Ile Uncertain significance Multiple submitters
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Thr124Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr12Met Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr153Met Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr198Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCTN1 p.Thr43Ala Uncertain significance Multiple submitters
DCTN1-related disorder
DCTN1 p.Val1081Met Uncertain significance Multiple submitters
DCTN1-related disorder
DCTN1 p.Val608Met Benign/Likely benign Multiple submitters
Perry syndrome
DCTN1 p.Val764Ile Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Val838Met Uncertain significance Multiple submitters
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1028Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1117Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1117Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1124Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1147Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala1217Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala279Thr Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala286Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala2Val Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Ala466Val Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala564Ser Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Ala619Thr Uncertain significance Single submitter
DCTN1 p.Ala736Thr Likely benign Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Ala810Gly Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Ala873Thr Likely benign Single submitter
DCTN1 p.Ala928Thr Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Ala983Asp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1036His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg1043Cys Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Arg11Trp Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Arg148Trp Conflicting Single submitter
Perry syndrome
DCTN1 p.Arg154His Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Arg225Trp Conflicting Single submitter
Perry syndrome
DCTN1 p.Arg25Trp Conflicting Single submitter
Perry syndrome
DCTN1 p.Arg275Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg292Cys Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Arg292His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg32Cys Conflicting Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg409Trp Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Arg411Cys Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Arg41Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg455Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg455His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg479His Uncertain significance Single submitter
DCTN1 p.Arg486Gln Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Arg495Trp Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg497Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg497His Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Arg532Trp Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Arg583Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg583Gly Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Arg598Trp Uncertain significance Single submitter
Inborn genetic diseases
DCTN1 p.Arg697Cys Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Arg768Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg785Leu Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg785Trp Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Arg795His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg802Gln Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg803Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg831Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg932Cys Conflicting Single submitter
DCTN1-related disorder
DCTN1 p.Arg932His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg990Cys Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Arg990Leu Uncertain significance Single submitter
neuronopathy, distal hereditary motor, type 7B
DCTN1 p.Asn447Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asn531Ser Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Asn582Ser Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp1170Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp271Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp445His Uncertain significance Single submitter
Perry syndrome
DCTN1 p.Asp472Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp529Val Uncertain significance Single submitter
DCTN1 p.Asp680Gly Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp741His Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp786Val Uncertain significance Single submitter
DCTN1 p.Asp793Asn Uncertain significance Single submitter
amyotrophic lateral sclerosis type 1
DCTN1 p.Asp809Val Conflicting Single submitter
Inborn genetic diseases
DCTN1 p.Asp825Gly Uncertain significance Single submitter
Inborn genetic diseases

All DCTN1 variants

Pathogenic 6

p.Gly71Glu Multiple submitters Perry syndrome
c.279+2T>C Single submitter neuronopathy, distal hereditary motor, type 7B
p.Gln74Pro Single submitter Perry syndrome
p.Gly59Arg Single submitter amyotrophic lateral sclerosis type 1
p.Gly59Ser Single submitter amyotrophic lateral sclerosis type 1
p.Leu210fs Single submitter Perry syndrome

Pathogenic/Likely pathogenic 3

c.279+1G>C Multiple submitters Perry syndrome
c.279+1G>T Multiple submitters DCTN1-related disorder
p.Gln93His Multiple submitters amyotrophic lateral sclerosis type 1

Likely pathogenic 5

p.Tyr78His Multiple submitters amyotrophic lateral sclerosis type 1
c.3532_3609+7del Single submitter neuronopathy, distal hereditary motor, type 7B
p.Arg1275Cys Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ile622Phe Single submitter amyotrophic lateral sclerosis
p.Phe52Leu Single submitter Perry syndrome

Conflicting classifications of pathogenicity 72

c.2015+3A>G Single submitter Inborn genetic diseases
c.2761-5C>T Single submitter Inborn genetic diseases
c.279+1G>A Single submitter amyotrophic lateral sclerosis type 1 ⚠
c.280-5C>T Single submitter Inborn genetic diseases
c.3197-13A>G Single submitter Perry syndrome
c.3529+3A>G Single submitter Inborn genetic diseases
c.359-6C>T Single submitter amyotrophic lateral sclerosis type 1
c.3699+16G>A Single submitter amyotrophic lateral sclerosis type 1
c.3700-6C>A Single submitter amyotrophic lateral sclerosis type 1
c.414+1G>A Single submitter amyotrophic lateral sclerosis type 1 ⚠
c.432+1G>T Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1253= Single submitter Perry syndrome
p.Ala279= Single submitter neuronopathy, distal hereditary motor, type 7B
p.Ala355= Single submitter neuronopathy, distal hereditary motor, type 7B
p.Ala564= Single submitter amyotrophic lateral sclerosis type 1
p.Ala853= Single submitter neuronopathy, distal hereditary motor, type 7B
p.Arg1043Cys Single submitter Inborn genetic diseases ⚠
p.Arg1043His Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Arg148Trp Single submitter Perry syndrome ⚠
p.Arg149Gln Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Arg225Trp Single submitter Perry syndrome ⚠
p.Arg25Trp Single submitter Perry syndrome ⚠
p.Arg32Cys Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Arg409Gln Single submitter Inborn genetic diseases ⚠
p.Arg409Trp Single submitter Inborn genetic diseases ⚠
p.Arg495Gln Single submitter neuronopathy, distal hereditary motor, type 7B ⚠
p.Arg497His Single submitter Inborn genetic diseases ⚠
p.Arg785Trp Single submitter Inborn genetic diseases ⚠
p.Arg916Gln Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Arg932Cys Single submitter DCTN1-related disorder ⚠
p.Asn1160His Single submitter Perry syndrome ⚠
p.Asn894Ser Single submitter Inborn genetic diseases ⚠
p.Asp490= Single submitter amyotrophic lateral sclerosis type 1
p.Asp809Val Single submitter Inborn genetic diseases ⚠
p.Gln1238Glu Single submitter neuronopathy, distal hereditary motor, type 7B ⚠
p.Gln1266Lys Single submitter amyotrophic lateral sclerosis ⚠
p.Glu1267Gln Single submitter Inborn genetic diseases ⚠
p.Glu875Lys Single submitter Inborn genetic diseases ⚠
p.Gly1047Arg Single submitter Inborn genetic diseases ⚠
p.Gly205Arg Single submitter Inborn genetic diseases ⚠
p.Gly353= Single submitter neuronopathy, distal hereditary motor, type 7B
p.Gly67Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.His668Tyr Single submitter neuronopathy, distal hereditary motor, type 7B ⚠
p.Ile1063Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ile1073Val Single submitter Inborn genetic diseases ⚠
p.Ile1097= Single submitter Perry syndrome
p.Ile196Val Single submitter amyotrophic lateral sclerosis ⚠
p.Ile961Met Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Leu1004Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Leu1207= Single submitter Perry syndrome
p.Leu380= Single submitter Perry syndrome
p.Leu851Val Single submitter Inborn genetic diseases ⚠
p.Lys1208Arg Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Lys361Arg Single submitter Inborn genetic diseases ⚠
p.Lys56Arg Single submitter Perry syndrome ⚠
p.Met1186Ile Single submitter Inborn genetic diseases ⚠
p.Met1186Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Met1245Val Single submitter Inborn genetic diseases ⚠
p.Met760Val Single submitter Inborn genetic diseases ⚠
p.Phe797Leu Single submitter Inborn genetic diseases ⚠
p.Pro109Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Pro918His Single submitter neuronopathy, distal hereditary motor, type 7B ⚠
p.Ser1112Gly Single submitter Perry syndrome ⚠
p.Ser1135Pro Single submitter Inborn genetic diseases ⚠
p.Ser14Gly Single submitter Perry syndrome ⚠
p.Ser263Ile Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ser883Cys Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Thr666Met Single submitter DCTN1-related disorder ⚠
p.Tyr878Cys Single submitter Inborn genetic diseases ⚠
p.Val837= Single submitter amyotrophic lateral sclerosis type 1
p.Gly67Asp No assertion criteria Perry syndrome ⚠
p.Gly71Arg No assertion criteria Perry syndrome ⚠

Benign 48

c.1128-55C>T Multiple submitters
c.1288-3C>T Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.1393-22A>C Multiple submitters
c.1393-35C>T Multiple submitters
c.1585-16C>T Multiple submitters amyotrophic lateral sclerosis type 1
c.1854+139C>T Multiple submitters
c.2016-23C>T Multiple submitters
c.2761-19C>G Multiple submitters amyotrophic lateral sclerosis type 1
c.280-34A>T Multiple submitters
c.280-42A>G Multiple submitters
c.2886+83A>G Multiple submitters
c.3530-128T>C Multiple submitters
c.3530-41C>A Multiple submitters
c.359-80G>A Multiple submitters
c.3610-20C>G Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.3610-62G>T Multiple submitters
c.3610-65G>A Multiple submitters
c.3610-92C>T Multiple submitters
c.3699+160T>C Multiple submitters
c.393+103T>G Multiple submitters
c.433-226A>G Multiple submitters
c.454-127T>C Multiple submitters
c.844-32G>T Multiple submitters
c.-18-2145T>C Multiple submitters
c.*122A>C Multiple submitters Perry syndrome
c.*21C>T Multiple submitters Perry syndrome
p.Gln1191= Multiple submitters amyotrophic lateral sclerosis type 1
p.Gln738Arg Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Leu287Met Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Thr535= Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.1392+148del Single submitter
c.1701+56dup Single submitter
c.2629-4G>A Single submitter amyotrophic lateral sclerosis type 1
c.3212-14dup Single submitter amyotrophic lateral sclerosis type 1
c.3609+244C>A Single submitter
c.3699+12_3699+23del Single submitter amyotrophic lateral sclerosis type 1
c.3699+18del Single submitter amyotrophic lateral sclerosis type 1
c.393+16del Single submitter amyotrophic lateral sclerosis type 1
c.415-142_415-140del Single submitter
c.415-675A>G Single submitter
c.433-259G>A Single submitter
c.454-147_454-145del Single submitter
c.*167C>T Single submitter Perry syndrome
c.*57C>T Single submitter Perry syndrome
p.Asp333= Single submitter neuronopathy, distal hereditary motor, type 7B
p.Glu1237= Single submitter amyotrophic lateral sclerosis type 1
p.His1136= Single submitter amyotrophic lateral sclerosis type 1
p.Ser1182= Single submitter amyotrophic lateral sclerosis type 1

Benign/Likely benign 44

c.1702-7C>T Multiple submitters Perry syndrome
c.1854+20T>A Multiple submitters amyotrophic lateral sclerosis type 1
c.2761-13G>A Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.2761-18C>T Multiple submitters amyotrophic lateral sclerosis type 1
c.279+8C>T Multiple submitters amyotrophic lateral sclerosis type 1
c.280-34_280-12dup Multiple submitters Perry syndrome
c.280-3C>T Multiple submitters Inborn genetic diseases
c.3345+13C>T Multiple submitters Perry syndrome
c.34-11G>T Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.3529+5G>A Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.3529+8C>T Multiple submitters Perry syndrome
c.3610-16C>T Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.646-15G>A Multiple submitters Perry syndrome
p.Ala20= Multiple submitters Perry syndrome
p.Ala24= Multiple submitters Inborn genetic diseases
p.Ala673= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ala816= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Ala984= Multiple submitters Inborn genetic diseases
p.Arg1049Gln Multiple submitters Perry syndrome
p.Arg1173= Multiple submitters Perry syndrome
p.Arg1261Gln Multiple submitters Perry syndrome
p.Arg502Ser Multiple submitters Inborn genetic diseases
p.Asp712= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Gln1076= Multiple submitters Inborn genetic diseases
p.Glu1267Lys Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Glu365= Multiple submitters Inborn genetic diseases
p.Glu539= Multiple submitters Inborn genetic diseases
p.His1167= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ile935Met Multiple submitters Inborn genetic diseases
p.Leu869= Multiple submitters amyotrophic lateral sclerosis type 1
p.Met377Leu Multiple submitters Perry syndrome
p.Pro1215Ala Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro186= Multiple submitters Inborn genetic diseases
p.Pro811Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser882= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Ser883= Multiple submitters Inborn genetic diseases
p.Thr1164Ala Multiple submitters Perry syndrome
p.Thr1166= Multiple submitters Perry syndrome
p.Thr1198= Multiple submitters Perry syndrome
p.Thr1249Ile Multiple submitters Inborn genetic diseases
p.Thr666= Multiple submitters Inborn genetic diseases
p.Thr753Met Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Thr835= Multiple submitters Inborn genetic diseases
p.Val608Met Multiple submitters Perry syndrome ⚠

Likely benign 563

Showing the top 300 by review status; the full set is in the sitemap.

c.1128-15C>A Multiple submitters amyotrophic lateral sclerosis type 1
c.1393-6T>C Multiple submitters Inborn genetic diseases
c.1393-7G>A Multiple submitters amyotrophic lateral sclerosis type 1
c.1855-143C>T Multiple submitters
c.1855-225C>T Multiple submitters
c.1855-233C>A Multiple submitters
c.279+10C>T Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.3029+19G>A Multiple submitters amyotrophic lateral sclerosis type 1
c.3197-21C>G Multiple submitters
c.3212-10G>A Multiple submitters Perry syndrome
c.3529+11G>C Multiple submitters amyotrophic lateral sclerosis type 1
c.358+17_358+18insGA Multiple submitters amyotrophic lateral sclerosis type 1
c.3610-14C>T Multiple submitters Perry syndrome
c.3699+12C>T Multiple submitters amyotrophic lateral sclerosis type 1
c.394-10C>A Multiple submitters Perry syndrome
p.Ala1147= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ala126= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Ala494= Multiple submitters Inborn genetic diseases
p.Ala494Thr Multiple submitters Inborn genetic diseases
p.Ala53= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Ala590= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Ala848= Multiple submitters Inborn genetic diseases
p.Arg1259Gln Multiple submitters Inborn genetic diseases
p.Arg1261= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Arg411His Multiple submitters Inborn genetic diseases ⚠
p.Arg76= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Asp1241Asn Multiple submitters Inborn genetic diseases
p.Cys893= Multiple submitters Perry syndrome
p.Gln1025= Multiple submitters amyotrophic lateral sclerosis type 1
p.Glu218= Multiple submitters Inborn genetic diseases
p.Glu387= Multiple submitters amyotrophic lateral sclerosis type 1
p.Gly15= Multiple submitters amyotrophic lateral sclerosis type 1
p.Gly493= Multiple submitters amyotrophic lateral sclerosis type 1
p.Gly71= Multiple submitters amyotrophic lateral sclerosis type 1
p.Gly773Val Multiple submitters Inborn genetic diseases
p.Ile1023= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ile1104= Multiple submitters Inborn genetic diseases
p.Ile1171Val Multiple submitters amyotrophic lateral sclerosis type 1
p.Ile253= Multiple submitters amyotrophic lateral sclerosis type 1
p.Leu642= Multiple submitters Inborn genetic diseases
p.Leu735= Multiple submitters Inborn genetic diseases
p.Leu746= Multiple submitters amyotrophic lateral sclerosis type 1
p.Leu866Val Multiple submitters Inborn genetic diseases
p.Pro1053Leu Multiple submitters Inborn genetic diseases
p.Pro1181= Multiple submitters Perry syndrome
p.Pro150= Multiple submitters Inborn genetic diseases
p.Pro739= Multiple submitters amyotrophic lateral sclerosis type 1
p.Pro923= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ser1041= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ser14= Multiple submitters amyotrophic lateral sclerosis type 1
p.Ser586= Multiple submitters amyotrophic lateral sclerosis type 1
p.Thr1015= Multiple submitters amyotrophic lateral sclerosis type 1
p.Thr1172= Multiple submitters amyotrophic lateral sclerosis type 1
p.Thr524= Multiple submitters amyotrophic lateral sclerosis type 1
p.Tyr912= Multiple submitters Inborn genetic diseases
p.Val1199= Multiple submitters Inborn genetic diseases
p.Val685Gly Multiple submitters amyotrophic lateral sclerosis type 1
c.1048+10C>T Single submitter amyotrophic lateral sclerosis type 1
c.1048+17T>C Single submitter amyotrophic lateral sclerosis type 1
c.1048+20T>A Single submitter amyotrophic lateral sclerosis type 1
c.1048+8G>A Single submitter neuronopathy, distal hereditary motor, type 7B
c.1049-13_1049-12del Single submitter amyotrophic lateral sclerosis type 1
c.1127+14T>C Single submitter amyotrophic lateral sclerosis type 1
c.1127+16C>T Single submitter amyotrophic lateral sclerosis type 1
c.1127+8C>G Single submitter amyotrophic lateral sclerosis type 1
c.1128-10A>G Single submitter amyotrophic lateral sclerosis type 1
c.1128-13C>G Single submitter amyotrophic lateral sclerosis type 1
c.1128-13C>T Single submitter amyotrophic lateral sclerosis type 1
c.1128-15C>G Single submitter amyotrophic lateral sclerosis type 1
c.1128-16C>T Single submitter amyotrophic lateral sclerosis type 1
c.1128-19C>G Single submitter amyotrophic lateral sclerosis type 1
c.1128-6C>G Single submitter amyotrophic lateral sclerosis type 1
c.1287+12C>T Single submitter amyotrophic lateral sclerosis type 1
c.1288-10C>T Single submitter neuronopathy, distal hereditary motor, type 7B
c.1288-12C>T Single submitter amyotrophic lateral sclerosis type 1
c.1288-18A>G Single submitter amyotrophic lateral sclerosis type 1
c.1288-18A>T Single submitter
c.1288-19T>C Single submitter amyotrophic lateral sclerosis type 1
c.1288-20C>T Single submitter neuronopathy, distal hereditary motor, type 7B
c.1288-9G>A Single submitter neuronopathy, distal hereditary motor, type 7B
c.1392+129_1392+130dup Single submitter
c.1392+129_1392+131dup Single submitter
c.1392+12G>A Single submitter amyotrophic lateral sclerosis type 1
c.1392+13C>T Single submitter amyotrophic lateral sclerosis type 1
c.1392+185G>T Single submitter
c.1392+19C>T Single submitter amyotrophic lateral sclerosis type 1
c.1392+7G>A Single submitter amyotrophic lateral sclerosis type 1
c.1392+8_1392+9del Single submitter amyotrophic lateral sclerosis type 1
c.1393-12G>T Single submitter amyotrophic lateral sclerosis type 1
c.1393-17_1393-16del Single submitter amyotrophic lateral sclerosis type 1
c.1393-17A>G Single submitter amyotrophic lateral sclerosis type 1
c.1393-4C>T Single submitter amyotrophic lateral sclerosis type 1
c.1393-4del Single submitter amyotrophic lateral sclerosis type 1
c.1393-9_1393-7del Single submitter amyotrophic lateral sclerosis type 1
c.1584+12C>T Single submitter amyotrophic lateral sclerosis type 1
c.1584+18G>A Single submitter amyotrophic lateral sclerosis type 1
c.1584+19C>A Single submitter amyotrophic lateral sclerosis type 1
c.1584+20T>C Single submitter amyotrophic lateral sclerosis type 1
c.1584+9C>T Single submitter amyotrophic lateral sclerosis type 1
c.1585-10C>T Single submitter amyotrophic lateral sclerosis type 1
c.1585-11T>C Single submitter Perry syndrome
c.1585-12C>G Single submitter amyotrophic lateral sclerosis type 1
c.1585-12C>T Single submitter amyotrophic lateral sclerosis type 1
c.1585-13TC[2] Single submitter Perry syndrome
c.1585-14G>C Single submitter amyotrophic lateral sclerosis type 1
c.1585-17A>G Single submitter amyotrophic lateral sclerosis type 1
c.1585-20T>C Single submitter amyotrophic lateral sclerosis type 1
c.1585-4C>G Single submitter Perry syndrome
c.1585-5C>G Single submitter amyotrophic lateral sclerosis type 1
c.1585-6T>C Single submitter neuronopathy, distal hereditary motor, type 7B
c.1701+10G>C Single submitter amyotrophic lateral sclerosis type 1
c.1701+14G>A Single submitter amyotrophic lateral sclerosis type 1
c.1701+15T>G Single submitter amyotrophic lateral sclerosis type 1
c.1701+18G>A Single submitter amyotrophic lateral sclerosis type 1
c.1701+82G>T Single submitter
c.1702-19C>T Single submitter amyotrophic lateral sclerosis type 1
c.1702-20C>T Single submitter amyotrophic lateral sclerosis type 1
c.1702-7C>G Single submitter amyotrophic lateral sclerosis type 1
c.1702-8C>T Single submitter amyotrophic lateral sclerosis type 1
c.1854+10A>G Single submitter amyotrophic lateral sclerosis type 1
c.1854+14A>G Single submitter amyotrophic lateral sclerosis type 1
c.1854+18C>T Single submitter amyotrophic lateral sclerosis type 1
c.1854+52A>G Single submitter
c.1854+9A>G Single submitter amyotrophic lateral sclerosis type 1
c.1855-16G>A Single submitter amyotrophic lateral sclerosis type 1
c.1855-20C>T Single submitter amyotrophic lateral sclerosis type 1
c.1855-7C>T Single submitter amyotrophic lateral sclerosis type 1
c.2015+17del Single submitter amyotrophic lateral sclerosis type 1
c.2015+19C>A Single submitter amyotrophic lateral sclerosis type 1
c.2015+5G>A Single submitter amyotrophic lateral sclerosis type 1
c.2016-12T>C Single submitter amyotrophic lateral sclerosis type 1
c.2016-6C>A Single submitter amyotrophic lateral sclerosis type 1
c.2184+11A>G Single submitter amyotrophic lateral sclerosis type 1
c.2184+16T>C Single submitter neuronopathy, distal hereditary motor, type 7B
c.2184+18G>T Single submitter amyotrophic lateral sclerosis type 1
c.2184+19G>A Single submitter amyotrophic lateral sclerosis type 1
c.2184+20G>T Single submitter amyotrophic lateral sclerosis type 1
c.2184+7G>T Single submitter amyotrophic lateral sclerosis type 1
c.2185-15G>C Single submitter amyotrophic lateral sclerosis type 1
c.2185-17_2185-14del Single submitter amyotrophic lateral sclerosis type 1
c.2185-6C>T Single submitter amyotrophic lateral sclerosis type 1
c.2253+13G>A Single submitter amyotrophic lateral sclerosis type 1
c.2253+14G>T Single submitter amyotrophic lateral sclerosis type 1
c.2253+16C>T Single submitter Perry syndrome
c.2253+20G>A Single submitter amyotrophic lateral sclerosis type 1
c.2254-10A>G Single submitter amyotrophic lateral sclerosis type 1
c.2254-15C>T Single submitter amyotrophic lateral sclerosis type 1
c.2254-18A>G Single submitter amyotrophic lateral sclerosis type 1
c.2254-5C>T Single submitter amyotrophic lateral sclerosis type 1
c.2254-8C>T Single submitter amyotrophic lateral sclerosis type 1
c.2316+12T>A Single submitter amyotrophic lateral sclerosis type 1
c.2316+15A>G Single submitter amyotrophic lateral sclerosis type 1
c.2316+19C>G Single submitter amyotrophic lateral sclerosis type 1
c.2317-15C>G Single submitter amyotrophic lateral sclerosis type 1
c.2317-16T>C Single submitter amyotrophic lateral sclerosis type 1
c.2317-19T>C Single submitter amyotrophic lateral sclerosis type 1
c.2317-20A>G Single submitter amyotrophic lateral sclerosis type 1
c.2317-4G>A Single submitter amyotrophic lateral sclerosis type 1
c.2317-9C>G Single submitter amyotrophic lateral sclerosis type 1
c.2317-9C>T Single submitter amyotrophic lateral sclerosis type 1
c.2466+14A>G Single submitter amyotrophic lateral sclerosis type 1
c.2466+16T>G Single submitter amyotrophic lateral sclerosis type 1
c.2466+17G>C Single submitter amyotrophic lateral sclerosis type 1
c.2467-14G>C Single submitter amyotrophic lateral sclerosis type 1
c.2467-16C>G Single submitter amyotrophic lateral sclerosis type 1
c.2467-17T>A Single submitter amyotrophic lateral sclerosis type 1
c.2467-17T>C Single submitter amyotrophic lateral sclerosis type 1
c.2467-6A>G Single submitter neuronopathy, distal hereditary motor, type 7B
c.2467-7C>G Single submitter amyotrophic lateral sclerosis type 1
c.2467-8G>T Single submitter amyotrophic lateral sclerosis type 1
c.2628+11A>G Single submitter amyotrophic lateral sclerosis type 1
c.2628+18G>A Single submitter amyotrophic lateral sclerosis type 1
c.2628+26G>A Single submitter
c.2628+3G>A Single submitter amyotrophic lateral sclerosis type 1
c.2629-13T>C Single submitter amyotrophic lateral sclerosis type 1
c.2629-14C>T Single submitter amyotrophic lateral sclerosis type 1
c.2629-18T>C Single submitter amyotrophic lateral sclerosis type 1
c.2760+10G>C Single submitter amyotrophic lateral sclerosis type 1
c.2760+11A>G Single submitter amyotrophic lateral sclerosis type 1
c.2760+18T>C Single submitter amyotrophic lateral sclerosis type 1
c.2760+20G>T Single submitter amyotrophic lateral sclerosis type 1
c.2760+8G>A Single submitter amyotrophic lateral sclerosis type 1
c.2760+9A>G Single submitter amyotrophic lateral sclerosis type 1
c.2761-13_2761-10dup Single submitter amyotrophic lateral sclerosis type 1
c.2761-14C>T Single submitter amyotrophic lateral sclerosis type 1
c.2761-16A>C Single submitter amyotrophic lateral sclerosis type 1
c.2761-16A>G Single submitter Perry syndrome
c.2761-19C>T Single submitter Perry syndrome
c.2761-20C>G Single submitter amyotrophic lateral sclerosis type 1
c.279+11C>A Single submitter amyotrophic lateral sclerosis type 1
c.279+20G>T Single submitter amyotrophic lateral sclerosis type 1
c.280-14del Single submitter amyotrophic lateral sclerosis type 1
c.280-19A>G Single submitter amyotrophic lateral sclerosis type 1
c.280-34_280-12del Single submitter amyotrophic lateral sclerosis type 1
c.280-4T>G Single submitter amyotrophic lateral sclerosis type 1
c.2886+18T>C Single submitter amyotrophic lateral sclerosis type 1
c.2886+19C>T Single submitter amyotrophic lateral sclerosis type 1
c.2887-14C>G Single submitter amyotrophic lateral sclerosis type 1
c.2887-4C>T Single submitter amyotrophic lateral sclerosis type 1
c.2887-5T>A Single submitter amyotrophic lateral sclerosis type 1
c.2887-8T>A Single submitter amyotrophic lateral sclerosis type 1
c.3029+12T>G Single submitter amyotrophic lateral sclerosis type 1
c.3029+16T>C Single submitter amyotrophic lateral sclerosis type 1
c.3029+20G>A Single submitter amyotrophic lateral sclerosis type 1
c.3030-11C>A Single submitter amyotrophic lateral sclerosis type 1
c.3030-11C>G Single submitter amyotrophic lateral sclerosis type 1
c.3030-20G>A Single submitter amyotrophic lateral sclerosis type 1
c.3196+16T>C Single submitter neuronopathy, distal hereditary motor, type 7B
c.3196+19G>A Single submitter amyotrophic lateral sclerosis type 1
c.3196+8C>T Single submitter amyotrophic lateral sclerosis type 1
c.3197-11C>G Single submitter amyotrophic lateral sclerosis type 1
c.3197-16G>T Single submitter amyotrophic lateral sclerosis type 1
c.3197-19T>C Single submitter amyotrophic lateral sclerosis type 1
c.3197-20A>G Single submitter amyotrophic lateral sclerosis type 1
c.3197-6G>A Single submitter amyotrophic lateral sclerosis type 1
c.3197-8G>A Single submitter Perry syndrome
c.3197-9C>T Single submitter amyotrophic lateral sclerosis type 1
c.3211+10C>T Single submitter amyotrophic lateral sclerosis type 1
c.3211+13T>G Single submitter amyotrophic lateral sclerosis type 1
c.3211+14C>G Single submitter amyotrophic lateral sclerosis type 1
c.3211+17G>A Single submitter amyotrophic lateral sclerosis type 1
c.3211+19C>G Single submitter amyotrophic lateral sclerosis type 1
c.3211+19C>T Single submitter amyotrophic lateral sclerosis type 1
c.3211+20G>A Single submitter amyotrophic lateral sclerosis type 1
c.3211+9C>G Single submitter amyotrophic lateral sclerosis type 1
c.3212-19T>C Single submitter
c.3212-20A>T Single submitter amyotrophic lateral sclerosis type 1
c.3212-6C>A Single submitter amyotrophic lateral sclerosis type 1
c.3212-7C>T Single submitter
c.33+16C>G Single submitter amyotrophic lateral sclerosis type 1
c.33+16C>T Single submitter amyotrophic lateral sclerosis type 1
c.33+9C>T Single submitter amyotrophic lateral sclerosis type 1
c.3345+10C>T Single submitter amyotrophic lateral sclerosis type 1
c.3345+17G>A Single submitter Perry syndrome
c.3345+8A>T Single submitter amyotrophic lateral sclerosis type 1
c.3346-16_3346-14del Single submitter amyotrophic lateral sclerosis type 1
c.3346-16C>G Single submitter amyotrophic lateral sclerosis type 1
c.3346-17T>C Single submitter amyotrophic lateral sclerosis type 1
c.3346-20C>G Single submitter amyotrophic lateral sclerosis type 1
c.3346-6C>T Single submitter amyotrophic lateral sclerosis type 1
c.34-11G>C Single submitter amyotrophic lateral sclerosis type 1
c.34-13C>A Single submitter amyotrophic lateral sclerosis type 1
c.34-20T>C Single submitter amyotrophic lateral sclerosis type 1
c.3529+13C>T Single submitter Perry syndrome
c.3529+15A>G Single submitter amyotrophic lateral sclerosis type 1
c.3529+20C>T Single submitter amyotrophic lateral sclerosis type 1
c.3529+8C>G Single submitter amyotrophic lateral sclerosis type 1
c.3530-18A>G Single submitter amyotrophic lateral sclerosis type 1
c.358+12C>T Single submitter amyotrophic lateral sclerosis type 1
c.358+15C>T Single submitter amyotrophic lateral sclerosis type 1
c.358+18A>T Single submitter amyotrophic lateral sclerosis type 1
c.359-10C>T Single submitter amyotrophic lateral sclerosis type 1
c.359-18T>C Single submitter amyotrophic lateral sclerosis type 1
c.359-4A>G Single submitter amyotrophic lateral sclerosis type 1
c.3609+17dup Single submitter amyotrophic lateral sclerosis type 1
c.3610-10C>T Single submitter amyotrophic lateral sclerosis type 1
c.3610-17C>G Single submitter amyotrophic lateral sclerosis type 1
c.3610-20C>T Single submitter amyotrophic lateral sclerosis type 1
c.3610-5C>G Single submitter amyotrophic lateral sclerosis type 1
c.3610-5C>T Single submitter amyotrophic lateral sclerosis type 1
c.3610-6C>T Single submitter amyotrophic lateral sclerosis type 1
c.3699+10A>C Single submitter amyotrophic lateral sclerosis type 1
c.3699+11G>A Single submitter amyotrophic lateral sclerosis type 1
c.3699+18_3699+29del Single submitter amyotrophic lateral sclerosis type 1
c.3699+18G>T Single submitter amyotrophic lateral sclerosis type 1
c.3699+8_3699+9dup Single submitter neuronopathy, distal hereditary motor, type 7B
c.3699+9dup Single submitter Perry syndrome
c.3700-14T>A Single submitter amyotrophic lateral sclerosis type 1
c.3700-18C>A Single submitter amyotrophic lateral sclerosis type 1
c.3700-18C>T Single submitter amyotrophic lateral sclerosis type 1
c.3700-20T>C Single submitter neuronopathy, distal hereditary motor, type 7B
c.3700-47C>G Single submitter
c.3700-4C>T Single submitter amyotrophic lateral sclerosis type 1
c.3700-6C>T Single submitter amyotrophic lateral sclerosis type 1
c.393+12G>A Single submitter
c.393+152T>C Single submitter
c.393+15G>A Single submitter amyotrophic lateral sclerosis type 1
c.393+15G>T Single submitter amyotrophic lateral sclerosis type 1
c.393+18G>A Single submitter amyotrophic lateral sclerosis type 1
c.393+7G>A Single submitter amyotrophic lateral sclerosis type 1
c.394-10C>T Single submitter amyotrophic lateral sclerosis type 1
c.394-16C>G Single submitter amyotrophic lateral sclerosis type 1
c.394-17dup Single submitter amyotrophic lateral sclerosis type 1
c.394-20C>T Single submitter amyotrophic lateral sclerosis type 1
c.394-9_394-7del Single submitter amyotrophic lateral sclerosis type 1
c.414+12A>C Single submitter amyotrophic lateral sclerosis type 1
c.414+14T>C Single submitter
c.414+7T>C Single submitter amyotrophic lateral sclerosis type 1
c.415-5G>A Single submitter amyotrophic lateral sclerosis type 1
c.432+10C>T Single submitter amyotrophic lateral sclerosis type 1
c.432+12T>C Single submitter amyotrophic lateral sclerosis type 1
c.432+14C>T Single submitter amyotrophic lateral sclerosis type 1
c.432+18C>A Single submitter amyotrophic lateral sclerosis type 1
c.432+18C>T Single submitter amyotrophic lateral sclerosis type 1
c.432+19G>A Single submitter amyotrophic lateral sclerosis type 1
c.432+19G>C Single submitter amyotrophic lateral sclerosis type 1
c.432+19G>T Single submitter amyotrophic lateral sclerosis type 1
c.433-17T>A Single submitter amyotrophic lateral sclerosis type 1
c.433-19G>T Single submitter amyotrophic lateral sclerosis type 1
c.433-9C>T Single submitter amyotrophic lateral sclerosis type 1

Uncertain significance 799

Showing the top 300 by review status; the full set is in the sitemap.

c.1128-3C>G Multiple submitters amyotrophic lateral sclerosis type 1
c.1288-10C>G Multiple submitters amyotrophic lateral sclerosis type 1
c.2185-3C>T Multiple submitters neuronopathy, distal hereditary motor, type 7B
c.33+3A>G Multiple submitters Inborn genetic diseases
c.414+1G>T Multiple submitters amyotrophic lateral sclerosis type 1
c.433-3C>T Multiple submitters amyotrophic lateral sclerosis type 1
c.843+5G>T Multiple submitters Perry syndrome
p.Ala1072Gly Multiple submitters DCTN1-related disorder ⚠
p.Ala1099Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala1183Ser Multiple submitters Perry syndrome ⚠
p.Ala1253Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala142Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala163Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala187Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala192Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala20Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala24Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala286Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala307Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala354Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala368Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala419Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala466Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala494Val Multiple submitters Inborn genetic diseases ⚠
p.Ala568Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala581Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala646Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala756Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ala849Thr Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Ala929Thr Multiple submitters Perry syndrome ⚠
p.Arg1036Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1049Trp Multiple submitters Perry syndrome ⚠
p.Arg1101Lys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg1150Cys Multiple submitters Perry syndrome ⚠
p.Arg1173His Multiple submitters Inborn genetic diseases ⚠
p.Arg1214Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg1275His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg132Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg132Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg143Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg143Ter Multiple submitters amyotrophic lateral sclerosis type 1
p.Arg148Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg154Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg225Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg238Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg274Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg275His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg28Trp Multiple submitters Perry syndrome ⚠
p.Arg32His Multiple submitters Inborn genetic diseases ⚠
p.Arg331Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg331Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg378Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg406Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg411Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg486Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg502Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg502His Multiple submitters Inborn genetic diseases ⚠
p.Arg521Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg521His Multiple submitters Perry syndrome ⚠
p.Arg532Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg532Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg532Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg614His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg623Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg623Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg639Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg639Trp Multiple submitters Perry syndrome ⚠
p.Arg643Ter Multiple submitters Perry syndrome
p.Arg669Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg669His Multiple submitters Inborn genetic diseases ⚠
p.Arg669Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg697His Multiple submitters Inborn genetic diseases ⚠
p.Arg766Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg768His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg795Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg804Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg890Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg90His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg916Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg927Trp Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Arg990His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Arg997Trp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asn477Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn536His Multiple submitters Inborn genetic diseases ⚠
p.Asn716Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asn716Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asn894Asp Multiple submitters Perry syndrome ⚠
p.Asp1204Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp1240Tyr Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Asp226Asn Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp424His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp490Tyr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp594His Multiple submitters Inborn genetic diseases ⚠
p.Asp741Asn Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp748Glu Multiple submitters Perry syndrome ⚠
p.Asp786Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp793His Multiple submitters ⚠
p.Asp809Glu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Asp947Gly Multiple submitters Inborn genetic diseases ⚠
p.Cys605Gly Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Cys791Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Gln1271His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Gln400Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln413Arg Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Gln850Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Glu1067Ter Multiple submitters amyotrophic lateral sclerosis type 1
p.Glu1205Asp Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Glu34Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Glu737Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu946Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1062Asp Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Gly1085Glu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Gly15Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Gly601Ala Multiple submitters Perry syndrome ⚠
p.Gly963Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.His1270Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.His584Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.His729Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1045Phe Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ile1045Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ile346Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ile569Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ile780Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ile801Val Multiple submitters Perry syndrome ⚠
p.Ile87Val Multiple submitters Inborn genetic diseases ⚠
p.Ile961Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1134Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Leu391Ile Multiple submitters Perry syndrome ⚠
p.Leu573Phe Multiple submitters Perry syndrome ⚠
p.Leu674Phe Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Leu702Phe Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Leu896Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys1008Glu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys1133Glu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys115= Multiple submitters neuronopathy, distal hereditary motor, type 7B
p.Lys1179Asn Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys329Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys393Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys556Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Lys979del Multiple submitters amyotrophic lateral sclerosis type 1
p.Lys985Arg Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Met439Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Met442Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Met592Leu Multiple submitters Inborn genetic diseases ⚠
p.Met744Val Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro1051Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro106Gln Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro106Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1084Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1181Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1220His Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro186Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro190Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro194Leu Multiple submitters Perry syndrome ⚠
p.Pro209Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro213Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro613Ser Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro690Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro885Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Pro917Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro923Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser111Cys Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser1122Phe Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser1153Gly Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser1182Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser174Leu Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser421Asn Multiple submitters Perry syndrome ⚠
p.Ser595Asn Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser661Ile Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Ser678Thr Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Ser687Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser874= Multiple submitters DCTN1-related disorder
p.Thr1166Met Multiple submitters Inborn genetic diseases ⚠
p.Thr1210Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr1218Ala Multiple submitters DCTN1-related disorder ⚠
p.Thr124Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr125Ala Multiple submitters Perry syndrome ⚠
p.Thr12Met Multiple submitters Inborn genetic diseases ⚠
p.Thr145Ser Multiple submitters Perry syndrome ⚠
p.Thr147Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr153Met Multiple submitters Inborn genetic diseases ⚠
p.Thr198Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr43Ala Multiple submitters DCTN1-related disorder ⚠
p.Thr509Met Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Thr562Ile Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Thr826Met Multiple submitters neuronopathy, distal hereditary motor, type 7B ⚠
p.Thr996Ala Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Tyr1244Cys Multiple submitters Perry syndrome ⚠
p.Tyr886Cys Multiple submitters DCTN1-related disorder ⚠
p.Val1081Met Multiple submitters DCTN1-related disorder ⚠
p.Val1243Ala Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Val1248Met Multiple submitters Inborn genetic diseases ⚠
p.Val496Leu Multiple submitters Inborn genetic diseases ⚠
p.Val60Met Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Val764Ile Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
p.Val838Met Multiple submitters amyotrophic lateral sclerosis type 1 ⚠
c.1048+3A>C Single submitter Perry syndrome
c.1048+3A>G Single submitter
c.1048+4A>G Single submitter amyotrophic lateral sclerosis type 1
c.1048+6G>A Single submitter amyotrophic lateral sclerosis type 1
c.1127+6G>A Single submitter amyotrophic lateral sclerosis type 1
c.1287+4T>A Single submitter amyotrophic lateral sclerosis type 1
c.1287+5G>A Single submitter amyotrophic lateral sclerosis type 1
c.1288-1G>A Single submitter amyotrophic lateral sclerosis type 1
c.1288-6A>G Single submitter amyotrophic lateral sclerosis type 1
c.1288-7_1289del Single submitter Perry syndrome
c.1392+3A>G Single submitter
c.1393-10G>A Single submitter amyotrophic lateral sclerosis type 1
c.1393-13T>C Single submitter amyotrophic lateral sclerosis type 1
c.1393-7G>T Single submitter Perry syndrome
c.1393-8T>C Single submitter neuronopathy, distal hereditary motor, type 7B
c.1584+2T>C Single submitter amyotrophic lateral sclerosis type 1
c.1584+5A>G Single submitter amyotrophic lateral sclerosis type 1
c.1585-16C>G Single submitter Perry syndrome
c.1701+9A>G Single submitter amyotrophic lateral sclerosis type 1
c.1702-3C>A Single submitter amyotrophic lateral sclerosis type 1
c.1854+2T>C Single submitter amyotrophic lateral sclerosis type 1
c.1855-4A>G Single submitter Inborn genetic diseases
c.2015+1G>C Single submitter Perry syndrome
c.2016-3T>C Single submitter amyotrophic lateral sclerosis type 1
c.2184+3G>A Single submitter
c.2253+4A>T Single submitter amyotrophic lateral sclerosis type 1
c.2316+5G>A Single submitter amyotrophic lateral sclerosis type 1
c.2317-2A>T Single submitter amyotrophic lateral sclerosis type 1
c.2467-8G>A Single submitter amyotrophic lateral sclerosis type 1
c.2628+5G>T Single submitter amyotrophic lateral sclerosis type 1
c.2629-7C>A Single submitter amyotrophic lateral sclerosis type 1
c.2760+2T>C Single submitter amyotrophic lateral sclerosis type 1
c.2760+5G>A Single submitter amyotrophic lateral sclerosis type 1
c.3029+19G>T Single submitter Perry syndrome
c.3029+5G>A Single submitter amyotrophic lateral sclerosis type 1
c.3029+6G>T Single submitter amyotrophic lateral sclerosis type 1
c.3032_3033delAG Single submitter DCTN1-related disorder
c.3196+3G>C Single submitter
c.3212-2A>G Single submitter amyotrophic lateral sclerosis type 1
c.3212-3C>T Single submitter amyotrophic lateral sclerosis type 1
c.3346-8A>G Single submitter
c.34-1G>C Single submitter amyotrophic lateral sclerosis type 1
c.3530-1G>A Single submitter amyotrophic lateral sclerosis type 1
c.3609+20C>T Single submitter amyotrophic lateral sclerosis type 1
c.3610-13_3612del Single submitter amyotrophic lateral sclerosis type 1
c.3700-3C>G Single submitter amyotrophic lateral sclerosis type 1
c.3700-3C>T Single submitter amyotrophic lateral sclerosis type 1
c.394-12C>G Single submitter
c.394-2dup Single submitter amyotrophic lateral sclerosis type 1
c.394-3C>T Single submitter amyotrophic lateral sclerosis type 1
c.414+3_414+9del Single submitter Inborn genetic diseases
c.414+6G>A Single submitter amyotrophic lateral sclerosis type 1
c.415-12A>G Single submitter amyotrophic lateral sclerosis type 1
c.453+6A>G Single submitter amyotrophic lateral sclerosis type 1
c.844-2A>G Single submitter amyotrophic lateral sclerosis type 1
c.844-5C>G Single submitter amyotrophic lateral sclerosis type 1
c.-162G>A Single submitter neuronopathy, distal hereditary motor, type 7B
c.-18-2073C>T Single submitter neuronopathy, distal hereditary motor, type 7B
c.-262A>G Single submitter neuronopathy, distal hereditary motor, type 7B
c.-263C>G Single submitter neuronopathy, distal hereditary motor, type 7B
c.-72C>G Single submitter neuronopathy, distal hereditary motor, type 7B
c.*111C>T Single submitter neuronopathy, distal hereditary motor, type 7B
c.*251T>G Single submitter Perry syndrome
p.Ala1028Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1099Phe Single submitter Perry syndrome
p.Ala1099Ser Single submitter Perry syndrome ⚠
p.Ala1117Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1117Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1124Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1145Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1147Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1178Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1190Ser Single submitter neuronopathy, distal hereditary motor, type 7B ⚠
p.Ala1190Thr Single submitter ⚠
p.Ala1217Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1234Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala1234Val Single submitter Perry syndrome ⚠
p.Ala126Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala139Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala142Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala173Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala173Val Single submitter Perry syndrome ⚠
p.Ala175Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala193Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala243Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala24Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala270Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala279Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala286Ser Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala2Val Single submitter Perry syndrome ⚠
p.Ala354Gly Single submitter ⚠
p.Ala354Ser Single submitter ⚠
p.Ala368Gly Single submitter ⚠
p.Ala433fs Single submitter
p.Ala466Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala494Glu Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala505Val Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala506Val Single submitter Inborn genetic diseases ⚠
p.Ala540Thr Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala540Val Single submitter Inborn genetic diseases ⚠
p.Ala560Asp Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala564Ser Single submitter Inborn genetic diseases ⚠
p.Ala566Gly Single submitter amyotrophic lateral sclerosis type 1 ⚠
p.Ala619Thr Single submitter ⚠