KIF1B — 3915 ClinVar variants

All ClinVar germline KIF1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1893 flagged for review →

2 Pathogenic · 150 Conflicting · 132 Benign · 47 Benign/Likely benign · 1239 Likely benign · 2345 Uncertain significance

Full KIF1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1893

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 agree, ClinVar conflicts 62

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

KIF1B p.Ala1014Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1657Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ala85Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala943Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1320Trp Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1515His Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1617Trp Conflicting Single submitter
KIF1B p.Arg1775His Conflicting Single submitter
Gait ataxia
KIF1B p.Arg72His Conflicting Single submitter
pheochromocytoma
KIF1B p.Arg858Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1038Asp Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1042Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1210His Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn131Ser Conflicting Single submitter
neuroblastoma, susceptibility to, 1
KIF1B p.Asn1746His Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn235Ser Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1045Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp906Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Cys1607Tyr Conflicting Single submitter
neuroblastoma
KIF1B p.Gln29Glu Conflicting Single submitter
KIF1B-related disorder
KIF1B p.Glu816Asp Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly1428Ser Conflicting Single submitter
neuroblastoma, susceptibility to, 1
KIF1B p.Gly259Asp Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1136Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ile1172Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1176Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1189Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1615Thr Conflicting Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Leu1209Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Leu851Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys1380Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys1737Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys296Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys300Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Met436Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Met465Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Met862Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Met862Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro1433Leu Conflicting Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Pro1433Thr Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro532Ala Conflicting Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Ser1044Asn Conflicting Single submitter
KIF1B-related disorder
KIF1B p.Ser1091Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser1622Pro Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser1814Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser449Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser459Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser590Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser590Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser865Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser870Asn Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser957Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr1764Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr20Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr455Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr873Ile Conflicting Single submitter
neuroblastoma, susceptibility to, 1
KIF1B p.Val1404Ala Conflicting Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Val1604Ile Conflicting Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Val1725Ile Conflicting Single submitter
neuroblastoma, susceptibility to, 1
KIF1B p.Val874Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Val940Met Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Val996Ile Conflicting Single submitter
Charcot-Marie-Tooth disease type 2

Predicted LoF vs a conflicting call 1

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.

KIF1B p.Arg1027Ter Conflicting Single submitter
Charcot-Marie-Tooth disease type 2

Predictors lean, ClinVar uncertain 1309

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 1309

KIF1B p.Ala1014Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1276Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ala1329Ser Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Ala1359Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1557Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1672Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1679Gly Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Ala1760Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala219Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala434Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala46Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala574Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala642Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala713Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ala724Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala725Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala725Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala85Thr Uncertain significance Multiple submitters
KIF1B-related disorder
KIF1B p.Ala863Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala947Ser Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Ala947Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Arg1003Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1007Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1007His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1007Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1007Pro Uncertain significance Multiple submitters
KIF1B p.Arg1053Cys Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Arg1053Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1053His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1082Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1160Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1217Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1217His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1318Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1318His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1320Gln Uncertain significance Multiple submitters
KIF1B-related disorder
KIF1B p.Arg1356His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1419Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1422Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1437Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1617Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1656Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg167His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1680Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1726Leu Uncertain significance Multiple submitters
KIF1B p.Arg1803Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1808His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg264Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg324Trp Uncertain significance Multiple submitters
KIF1B p.Arg350Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg350His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg370Cys Uncertain significance Multiple submitters
KIF1B p.Arg370His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg378Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Arg378Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg384His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg496Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg496His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg517Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg565Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg566Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg566Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg587Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg602Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Arg602His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg623His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg633Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg633His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg721Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg752Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg752Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg822Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg848Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Arg853Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg907Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg907His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1084His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn133Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1644Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1688Ser Uncertain significance Multiple submitters
KIF1B p.Asn16Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn232Asp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Asn322Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn337Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn33Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn357Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn589Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn75Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn769Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1147Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1567Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1647Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1736Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp231Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp393Asn Uncertain significance Multiple submitters
neuroblastoma
KIF1B p.Asp53Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp553Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp917Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp929Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp942Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Asp946Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1011Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1207Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1245Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1548Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1548His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1668Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln617Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln788Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu1105Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu1192Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu1257Asp Uncertain significance Multiple submitters
KIF1B p.Glu1516Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu1562Lys Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Glu1572Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu239Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu499Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu601Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu63Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu643Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Glu854Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu869Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu871Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu871Lys Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Glu926Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly1055Cys Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Gly1616Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly573Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly876Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly898Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly944Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.His1774Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.His636Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.His757Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1074Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile118Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1258Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1298Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ile1545Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1571Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1612Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1615Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1802Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile192Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile223Thr Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Ile223Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile27Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile28Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile484Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile594Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2

Predictors split 521

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 521

KIF1B p.Ala1012Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1015Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala185Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala329Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala473Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala747Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1027Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1120Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1312His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1356Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1356Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1419His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
KIF1B p.Arg1422His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1473Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1473Trp Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Arg1482Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1484Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1484His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1509Cys Uncertain significance Multiple submitters
EMG abnormality
KIF1B p.Arg1517Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1726Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1726His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1803Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg384Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg476His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg517Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg565Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg584Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg584Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg619His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg641Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg681Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Arg883Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg903Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1157Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn131Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn1594Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn361Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asn834Ser Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Asp1021Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp1326Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp231Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Asp906Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Cys1635Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Cys1771Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln1759His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gln29His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu1153Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu287Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu586Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu601Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Glu645Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly1159Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Gly1277Asp Uncertain significance Multiple submitters
KIF1B-related disorder
KIF1B p.Gly1800Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly768Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly891Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly898Asp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Gly952Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.His757Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1489Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile149Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1693Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile1744Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
KIF1B p.Ile37Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ile391Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Leu1306Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Leu1369Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Leu1424Pro Uncertain significance Multiple submitters
KIF1B p.Leu798Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys1033Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys1309Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys1584Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys355Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys646Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys710Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Lys755Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Met503Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Met626Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Met685Val Uncertain significance Multiple submitters
KIF1B p.Met855Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Phe1180Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Phe1256Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Phe1593Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Phe1731Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro1231Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro1323Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro1698Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro62Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro62Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro648Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro653Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Pro653His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
KIF1B p.Pro879Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser1035Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser1410Tyr Uncertain significance Multiple submitters
KIF1B p.Ser1529Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser21Asn Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease type 2A1
KIF1B p.Ser21Ile Uncertain significance Multiple submitters
KIF1B p.Ser435Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser450Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser800Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ser800Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr1767Ser Uncertain significance Multiple submitters
pheochromocytoma
KIF1B p.Thr187Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr596Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr647Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr652Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Thr795Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Trp749Arg Benign/Likely benign Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Tyr54Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Val1296Leu Uncertain significance Multiple submitters
neuroblastoma, susceptibility to, 1
KIF1B p.Val1360Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Val359Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1019Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Ala1019Val Uncertain significance Single submitter
KIF1B p.Ala1398Gly Uncertain significance Single submitter
KIF1B p.Ala1470Thr Uncertain significance Single submitter
KIF1B p.Ala1470Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease
KIF1B p.Ala1479Val Uncertain significance Single submitter
KIF1B p.Ala1769Asp Uncertain significance Single submitter
KIF1B p.Ala1769Thr Uncertain significance Single submitter
KIF1B p.Ala1781Thr Uncertain significance Single submitter
KIF1B p.Ala185Thr Uncertain significance Single submitter
KIF1B p.Ala207Ser Uncertain significance Single submitter
KIF1B p.Ala260Val Uncertain significance Single submitter
KIF1B p.Ala507Asp Uncertain significance Single submitter
KIF1B p.Ala507Thr Uncertain significance Single submitter
KIF1B p.Ala510Ser Uncertain significance Single submitter
KIF1B p.Ala510Thr Uncertain significance Single submitter
KIF1B p.Ala650Asp Uncertain significance Single submitter
KIF1B p.Ala68Ser Uncertain significance Single submitter
KIF1B p.Ala696Val Uncertain significance Single submitter
KIF1B p.Ala750Val Uncertain significance Single submitter
KIF1B p.Ala836Thr Uncertain significance Single submitter
KIF1B p.Ala859Val Uncertain significance Single submitter
KIF1B p.Ala924Asp Uncertain significance Single submitter
KIF1B p.Ala994Pro Uncertain significance Single submitter
KIF1B p.Arg1312Cys Uncertain significance Single submitter
KIF1B p.Arg1352Gly Uncertain significance Single submitter
KIF1B p.Arg1356Ser Uncertain significance Single submitter
KIF1B p.Arg1373Gln Uncertain significance Single submitter
KIF1B p.Arg1419Gly Uncertain significance Single submitter
KIF1B p.Arg1422Leu Uncertain significance Single submitter
KIF1B p.Arg1437Leu Uncertain significance Single submitter
KIF1B p.Arg1460Ser Uncertain significance Single submitter
KIF1B p.Arg1461Ser Uncertain significance Single submitter
KIF1B p.Arg1473Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
KIF1B p.Arg1473Pro Uncertain significance Single submitter
KIF1B p.Arg1482Gln Conflicting Single submitter
Charcot-Marie-Tooth disease type 2

All KIF1B variants

Pathogenic 2

p.Arg346Ter Single submitter Charcot-Marie-Tooth disease type 2A1
p.Gln98Leu No assertion criteria Charcot-Marie-Tooth disease type 2A1

Conflicting classifications of pathogenicity 150

c.1038-5del Single submitter Charcot-Marie-Tooth disease type 2
c.107-8T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1515-18T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1515-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.184-6T>G Single submitter Charcot-Marie-Tooth disease type 2
c.2043-10_2043-9del Single submitter Charcot-Marie-Tooth disease
c.2115+6313G>A Single submitter
c.2115+6523G>A Single submitter neuroblastoma, susceptibility to, 1
c.2115+6581G>A Single submitter Charcot-Marie-Tooth disease type 2A1
c.2115+6625G>A Single submitter
c.2115+6835C>T Single submitter
c.2115+7012A>G Single submitter neuroblastoma, susceptibility to, 1
c.2115+7031T>C Single submitter
c.2115+7081C>T Single submitter neuroblastoma, susceptibility to, 1
c.2538-3T>C Single submitter Charcot-Marie-Tooth disease type 2
c.2675+3A>G Single submitter Charcot-Marie-Tooth disease type 2
c.2925-3del Single submitter Charcot-Marie-Tooth disease type 2
c.3129+11G>T Single submitter Charcot-Marie-Tooth disease type 2
c.3130-15C>G Single submitter Charcot-Marie-Tooth disease type 2
c.3423-15A>T Single submitter Charcot-Marie-Tooth disease
c.3633-5T>C Single submitter Charcot-Marie-Tooth disease type 2
c.364-10A>G Single submitter Charcot-Marie-Tooth disease type 2
c.364-15A>G Single submitter Charcot-Marie-Tooth disease type 2
c.3864+4C>T Single submitter Charcot-Marie-Tooth disease type 2
c.430-15C>G Single submitter pheochromocytoma
c.430-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.430-9del Single submitter Charcot-Marie-Tooth disease type 2
c.4367-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.721-15A>G Single submitter neuroblastoma
c.883-15C>T Single submitter Charcot-Marie-Tooth disease type 2
c.-5T>C Single submitter
c.*2114C>G Single submitter neuroblastoma
c.*2268C>T Single submitter neuroblastoma
c.*3639T>C Single submitter neuroblastoma
c.*839C>T Single submitter neuroblastoma
p.Ala1014= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala1014Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1015= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala1657Val Single submitter Charcot-Marie-Tooth disease type 2A1 ⚠
p.Ala202= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala85Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala943Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1027Ter Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1145Cys Single submitter Charcot-Marie-Tooth disease type 2
p.Arg1320Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1352= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg1482Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1509His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1515His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1617Trp Single submitter ⚠
p.Arg1775His Single submitter Gait ataxia ⚠
p.Arg346= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg505= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg619Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg72Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg72His Single submitter pheochromocytoma ⚠
p.Arg858Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1038Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1042Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1210= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn1210His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn131Ser Single submitter neuroblastoma, susceptibility to, 1 ⚠
p.Asn1746= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn1746His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn235Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1045Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1738Glu Single submitter Charcot-Marie-Tooth disease type 2A1 ⚠
p.Asp53= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp906Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys1607Tyr Single submitter neuroblastoma ⚠
p.Cys899Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln29Glu Single submitter KIF1B-related disorder ⚠
p.Glu1305Lys Single submitter Charcot-Marie-Tooth disease type 2
p.Glu735= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu816Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly1428Ser Single submitter neuroblastoma, susceptibility to, 1 ⚠
p.Gly259Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly591Arg Single submitter Charcot-Marie-Tooth disease
p.Gly768= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly88= Single submitter neuroblastoma
p.His1393= Single submitter neuroblastoma
p.Ile1136Thr Single submitter Charcot-Marie-Tooth disease type 2A1 ⚠
p.Ile1172Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1176Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1189Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1615Thr Single submitter Charcot-Marie-Tooth disease ⚠
p.Ile1693= Single submitter
p.Ile995= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu1209Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1385Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu236His Single submitter Charcot-Marie-Tooth disease type 2
p.Leu454= Single submitter neuroblastoma
p.Leu667= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu851Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu980= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys1380Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys1737Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys296Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys300Arg Single submitter Charcot-Marie-Tooth disease type 2A1 ⚠
p.Met436Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met465Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met862Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met862Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe820Cys Single submitter Hereditary cancer ⚠
p.Pro1263Ser Single submitter Charcot-Marie-Tooth disease type 2
p.Pro1433Leu Single submitter Charcot-Marie-Tooth disease ⚠
p.Pro1433Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro1455= Single submitter
p.Pro333= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro532Ala Single submitter Charcot-Marie-Tooth disease ⚠
p.Pro648His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser1044Asn Single submitter KIF1B-related disorder ⚠
p.Ser1091Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser1211= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser1525Tyr Single submitter Charcot-Marie-Tooth disease type 2
p.Ser1561= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser1622Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser1735Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser1814Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser447= Single submitter Charcot-Marie-Tooth disease type 2
p.Ser449Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser459Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser49Tyr Single submitter neuroblastoma ⚠
p.Ser590Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser590Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser61= Single submitter Charcot-Marie-Tooth disease
p.Ser865Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser870Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ser957Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr1283= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr1508Ala Single submitter Charcot-Marie-Tooth disease type 2
p.Thr1764Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr20Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr35= Single submitter Charcot-Marie-Tooth disease type 2
p.Thr455Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr652Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Thr720Ile Single submitter Hereditary cancer ⚠
p.Thr873Ile Single submitter neuroblastoma, susceptibility to, 1 ⚠
p.Tyr338= Single submitter Charcot-Marie-Tooth disease type 2
p.Tyr881Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr964= Single submitter Charcot-Marie-Tooth disease type 2
p.Val1271= Single submitter Charcot-Marie-Tooth disease type 2
p.Val1404Ala Single submitter Charcot-Marie-Tooth disease ⚠
p.Val1604Ile Single submitter Charcot-Marie-Tooth disease ⚠
p.Val1724= Single submitter Charcot-Marie-Tooth disease type 2
p.Val1725Ile Single submitter neuroblastoma, susceptibility to, 1 ⚠
p.Val874Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val940Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Val978= Single submitter Charcot-Marie-Tooth disease
p.Val996Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠

Benign 132

c.1222+16_1222+17del Multiple submitters Charcot-Marie-Tooth disease
c.1223-28C>T Multiple submitters Charcot-Marie-Tooth disease
c.1434+38G>A Multiple submitters
c.1590+249T>C Multiple submitters
c.1777+10C>T Multiple submitters pheochromocytoma
c.1778-78C>A Multiple submitters
c.184-6_184-5del Multiple submitters Charcot-Marie-Tooth disease
c.1862-107A>G Multiple submitters
c.2043-9dup Multiple submitters
c.2115+102A>G Multiple submitters
c.2115+6207G>A Multiple submitters
c.2115+6360G>T Multiple submitters
c.2115+6753A>G Multiple submitters
c.2675+94A>G Multiple submitters
c.2924+133A>G Multiple submitters
c.2924+89T>C Multiple submitters
c.2925-42C>G Multiple submitters
c.3423-15del Multiple submitters hereditary neoplastic syndrome
c.3513+27A>C Multiple submitters
c.3513+38T>C Multiple submitters
c.363+6A>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.3688+137G>A Multiple submitters
c.3950-53A>T Multiple submitters
c.4055+6A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.4056-50C>T Multiple submitters
c.4056-69G>A Multiple submitters
c.429+125A>G Multiple submitters
c.429+26G>A Multiple submitters
c.430-31A>T Multiple submitters
c.430-72G>C Multiple submitters
c.4305-22T>C Multiple submitters
c.4753-73G>A Multiple submitters
c.4825-41T>C Multiple submitters
c.4825-67C>T Multiple submitters
c.4946+9C>T Multiple submitters Charcot-Marie-Tooth disease
c.4947-92T>C Multiple submitters
c.5289+66T>C Multiple submitters
c.5409-169C>T Multiple submitters
c.5409-86G>T Multiple submitters
c.608+251A>G Multiple submitters
c.608+8dup Multiple submitters Charcot-Marie-Tooth disease
c.720+17C>T Multiple submitters pheochromocytoma
c.721-110T>G Multiple submitters
c.883-171G>A Multiple submitters
c.-136C>T Multiple submitters neuroblastoma
c.-208G>C Multiple submitters neuroblastoma
c.*1133C>T Multiple submitters neuroblastoma
c.*1159G>A Multiple submitters neuroblastoma
c.*1361A>T Multiple submitters neuroblastoma
c.*1986C>G Multiple submitters neuroblastoma
c.*2042C>T Multiple submitters neuroblastoma
c.*2247G>A Multiple submitters neuroblastoma
c.*279C>T Multiple submitters neuroblastoma
c.*2869C>T Multiple submitters neuroblastoma
c.*3154A>G Multiple submitters neuroblastoma
c.*3690C>A Multiple submitters neuroblastoma
c.*3911A>G Multiple submitters neuroblastoma
c.*4958G>A Multiple submitters neuroblastoma
p.Asn777Ser Multiple submitters neuroblastoma
p.Asp1362= Multiple submitters neuroblastoma
p.Pro1433= Multiple submitters Charcot-Marie-Tooth disease
p.Ser1427= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1767= Multiple submitters Charcot-Marie-Tooth disease
p.Tyr1133Cys Multiple submitters Charcot-Marie-Tooth disease
p.Val1600Met Multiple submitters Charcot-Marie-Tooth disease
c.1037+12del Single submitter Charcot-Marie-Tooth disease type 2
c.106+196C>G Single submitter
c.107-280_107-279insG Single submitter
c.1223-211T>C Single submitter
c.1435-291T>A Single submitter
c.1514+232A>G Single submitter
c.1515-216T>G Single submitter
c.1515-6del Single submitter Charcot-Marie-Tooth disease type 2
c.1591-39_1591-37dup Single submitter
c.1777+147T>C Single submitter
c.1777+204_1777+205insG Single submitter
c.183+246C>G Single submitter
c.2043-9del Single submitter Charcot-Marie-Tooth disease
c.2115+5747CA[3] Single submitter
c.2210-261A>T Single submitter
c.2537+57_2537+58insTGAAAT Single submitter
c.2538-92dup Single submitter
c.2924+225T>C Single submitter
c.2925-262C>T Single submitter
c.3044-10del Single submitter Charcot-Marie-Tooth disease type 2
c.3044-10dup Single submitter Charcot-Marie-Tooth disease type 2
c.3422+308C>T Single submitter
c.3514-82del Single submitter
c.364-63C>T Single submitter
c.3797+196C>G Single submitter
c.3864+20del Single submitter Charcot-Marie-Tooth disease type 2
c.3949+60dup Single submitter
c.4055+329G>A Single submitter
c.430-39del Single submitter
c.4304+10del Single submitter Charcot-Marie-Tooth disease type 2
c.4304+162A>G Single submitter
c.4367-322A>G Single submitter
c.4367-33del Single submitter
c.4367-79dup Single submitter
c.4367-80_4367-79dup Single submitter
c.4752+160C>T Single submitter
c.4753-245dup Single submitter
c.4947-71A>G Single submitter
c.5409-16del Single submitter Charcot-Marie-Tooth disease type 2
c.799-197C>T Single submitter
c.799-218A>G Single submitter
c.883-177T>C Single submitter
c.-26TA[5] Single submitter
c.-299_-298del Single submitter
c.-80+1G>T Single submitter neuroblastoma
c.*1118G>A Single submitter neuroblastoma
c.*1503C>T Single submitter neuroblastoma
c.*2012C>T Single submitter neuroblastoma
c.*2321A>G Single submitter neuroblastoma
c.*249CA[15] Single submitter
c.*2661A>T Single submitter neuroblastoma
c.*2698G>A Single submitter neuroblastoma
c.*2732G>C Single submitter neuroblastoma
c.*2740C>A Single submitter neuroblastoma
c.*2895G>A Single submitter neuroblastoma
c.*3341C>T Single submitter neuroblastoma
c.*3742T>C Single submitter neuroblastoma
c.*3857G>A Single submitter neuroblastoma
c.*3948G>A Single submitter neuroblastoma
c.*3988G>A Single submitter neuroblastoma
c.*4267A>G Single submitter neuroblastoma
c.*4392A>G Single submitter neuroblastoma
c.*4894T>C Single submitter neuroblastoma
c.*712G>A Single submitter neuroblastoma
p.Ala1760= Single submitter
p.Phe1256Ser Single submitter ovarian cancer
c.865-4G>T No assertion criteria KIF1B-related disorder

Benign/Likely benign 47

c.1038-15dup Multiple submitters Charcot-Marie-Tooth disease type 2
c.1180+18C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1180+19G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.1435-15C>T Multiple submitters neuroblastoma
c.1777+7A>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.184-19C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2043-4C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2115+5919C>T Multiple submitters
c.2115+6183T>C Multiple submitters
c.2115+6956A>G Multiple submitters breast cancer
c.2115+7077A>G Multiple submitters
c.3259+9A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.3864+6A>C Multiple submitters Charcot-Marie-Tooth disease
c.429+13G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.4753-20C>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.4824+15T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.5097-9C>T Multiple submitters Charcot-Marie-Tooth disease
c.5408+11TTG[5] Multiple submitters Charcot-Marie-Tooth disease type 2
c.959-17A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.*2T>C Multiple submitters Charcot-Marie-Tooth disease
c.*3035G>A Multiple submitters neuroblastoma
p.Ala1750= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala905= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1656Gln Multiple submitters neuroblastoma
p.Asn901= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp919= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp958= Multiple submitters neuroblastoma
p.Glu1674Lys Multiple submitters Charcot-Marie-Tooth disease
p.Glu732= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1601= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His218= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His230= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His897= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile990= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1446= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1212= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1212Leu Multiple submitters Charcot-Marie-Tooth disease
p.Pro1532= Multiple submitters Charcot-Marie-Tooth disease
p.Pro1811Leu Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1386= Multiple submitters Charcot-Marie-Tooth disease
p.Ser1556= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1659= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser21Asn Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Thr1452= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Trp749Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Tyr56= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr799= Multiple submitters Charcot-Marie-Tooth disease type 2

Likely benign 1239

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

c.107-11T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.107-4C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1434+9T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.1435-9C>T Multiple submitters Charcot-Marie-Tooth disease
c.1778-11G>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1778-17G>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1778-5C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2042+20C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2115+5958G>A Multiple submitters
c.2115+6213G>T Multiple submitters Charcot-Marie-Tooth disease
c.2115+6891G>A Multiple submitters
c.2115+7116G>A Multiple submitters
c.2115+7274A>G Multiple submitters
c.2358+9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2537+15A>G Multiple submitters Charcot-Marie-Tooth disease
c.3129+11G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.3130-20T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.3422+19C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.3688+15C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.3798-15G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.3864+16C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.4171-14C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.429+7A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.4305-17T>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.4366+11G>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.4753-4T>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.4753-9C>T Multiple submitters Charcot-Marie-Tooth disease
c.4824+16_4824+17del Multiple submitters Charcot-Marie-Tooth disease type 2
c.4825-14C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.4946+10C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.4947-11C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.4947-13C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.5097-11G>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.5408+11TTG[7] Multiple submitters Charcot-Marie-Tooth disease type 2
c.5409-15G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.5409-16C>T Multiple submitters Charcot-Marie-Tooth disease
c.5409-4A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.608+14T>G Multiple submitters Charcot-Marie-Tooth disease
c.609-10G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.720+17C>A Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1012= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala116= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1165= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1329= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1398= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1557= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1799= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala250= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala286= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala326= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala348= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala650= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala662= Multiple submitters
p.Ala68= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala770= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala866= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala916= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala95= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1003= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1082= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1082Gln Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1120= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1218= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg13= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1312= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1411= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1482= Multiple submitters
p.Arg1509= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1642Lys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg584= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg623Cys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg644= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg822= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn1084= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn131= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn133= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn135= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn1644= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn1684= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn1788= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn209= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn42= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn71= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn769= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1520= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1640= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp335= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp393= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp519= Multiple submitters Charcot-Marie-Tooth disease
p.Asp540= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp868= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp925= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp942= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp946= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys1585= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys1771= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys26= Multiple submitters Charcot-Marie-Tooth disease
p.Gln1067= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln115= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1205= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1245= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1493= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1548= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1587= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln31= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln461= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln560= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln748= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1060= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1072= Multiple submitters
p.Glu1178= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1476= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1674= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1741= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu340= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu374= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu511= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu518= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu579= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu638= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu643= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu734= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu854= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu87= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu932= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu950= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly1282= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly1426= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly1537= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly175= Multiple submitters
p.Gly1776= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly251= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly259= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly453= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly513= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly521= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly573= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly621= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly627= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly97= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1110= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1287= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1300= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1307= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His171= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His742= Multiple submitters Charcot-Marie-Tooth disease type 2
p.His84= Multiple submitters Charcot-Marie-Tooth disease
p.Ile1013= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1176= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1189= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile119= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1268= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1294= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1464= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1571= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1745= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile27= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile391= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile555= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile594= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile920= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile971= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1056= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1061= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1094= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1113= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1204= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1235= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1252= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1285= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1344= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1365= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1370= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1389= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1421= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu1574= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu158= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu174= Multiple submitters Charcot-Marie-Tooth disease
p.Leu508= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu523= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu542= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu700= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu773= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu82= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu845= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys103= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys1097= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys1228= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys1309= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys229= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys261= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys355= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys482= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys494= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys497= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys888= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Lys888Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe1194= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe303= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe52= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Phe939= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1154= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1201= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1215= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1225= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1376= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1397= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro14= Multiple submitters
p.Pro1560= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1619Ala Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1671= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1676= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro1796= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro443= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro637= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro656= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro821= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro879= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro909= Multiple submitters
p.Pro911= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro962= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro986= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1047= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1239= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1304= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser141= Multiple submitters
p.Ser1527= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1529= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1603= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1632= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser1633= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser182= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser188= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser2= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser435= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser55= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser572= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser590= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser761= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser865= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser865Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser870= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser877= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ser918= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1052= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1152= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1186= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1237= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1241= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1264= Multiple submitters
p.Thr1275= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1295= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1297= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1384= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1467= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1508= Multiple submitters Charcot-Marie-Tooth disease
p.Thr1541= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1551= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr1592= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr187= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr222= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr531= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr60= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr652= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr797= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr873= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr908= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr949= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr1022= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr105= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr1343= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr1442= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr1715= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr177= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr189= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr550= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr606= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr96= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val1002= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val1008= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val1407= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val144= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val1472= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val247= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val612= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val781= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val824= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val874= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val91= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val940= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val993= Multiple submitters
c.1037+11T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1037+16C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1037+7dup Single submitter Charcot-Marie-Tooth disease type 2
c.1038-15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1038-18T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1038-20A>C Single submitter Charcot-Marie-Tooth disease type 2
c.106+10T>A Single submitter Charcot-Marie-Tooth disease type 2
c.106+14G>A Single submitter
c.106+19C>T Single submitter Charcot-Marie-Tooth disease type 2

Uncertain significance 2345

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

c.1434+5del Multiple submitters Charcot-Marie-Tooth disease type 2
c.1434+5G>A Multiple submitters
c.1590+5G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.1671-3C>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.1671-3C>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.1861+3G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.2115+6205C>T Multiple submitters Hemihypertrophy
c.2115+6A>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.2115+7343G>A Multiple submitters pheochromocytoma
c.2358+1G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.2676-3T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.2924+5G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.2925-3T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.3043+4G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.3259+3A>C Multiple submitters Charcot-Marie-Tooth disease
c.3259+4T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.3514-3del Multiple submitters
c.3688+5G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.3798-3T>C Multiple submitters neuroblastoma, susceptibility to, 1
c.4366+4A>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.4753-3T>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.4824+3G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.5289+4C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.608+3A>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.720+5G>C Multiple submitters Charcot-Marie-Tooth disease type 2
c.798+5T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.958+3A>G Multiple submitters
c.*1618C>G Multiple submitters neuroblastoma
c.*281T>C Multiple submitters neuroblastoma
p.Ala1012Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1014Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1015Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1015Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1276Val Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Ala1329Ser Multiple submitters pheochromocytoma ⚠
p.Ala1359Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1413Thr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala1557Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1672Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1679Gly Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Ala1760Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala1769Asn Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala185Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala219Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala329Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala434Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala46Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala473Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala574Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala642Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala713Thr Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Ala724Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala725Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala725Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala747Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala85Thr Multiple submitters KIF1B-related disorder ⚠
p.Ala863Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala947Ser Multiple submitters pheochromocytoma ⚠
p.Ala947Thr Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Ala994Ser Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1003Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1007Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1007His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1007Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1007Pro Multiple submitters ⚠
p.Arg1027Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1053Cys Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Arg1053Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1053His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1082Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1120Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1145His Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1160Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1217Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1217Gly Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1217His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1312His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1318Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1318His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1320Gln Multiple submitters KIF1B-related disorder ⚠
p.Arg1356Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1356His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1356Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1419Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1419His Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg1422Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1422His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1437Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1473Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1473Trp Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Arg1482Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1484Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1484His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1509Cys Multiple submitters EMG abnormality ⚠
p.Arg1515Cys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1517Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1617Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1656Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg167His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1680Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1726Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1726His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1726Leu Multiple submitters ⚠
p.Arg1742His Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1775Cys Multiple submitters neuroblastoma, susceptibility to, 1
p.Arg1803Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1803Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg1808Cys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg1808His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg264Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg324Trp Multiple submitters ⚠
p.Arg350Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg350His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg370Cys Multiple submitters ⚠
p.Arg370His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg378Gln Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Arg378Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg384Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg384His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg476His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg496Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg496His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg517Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg517Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg565Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg565Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg566Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg566Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg584Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg584Leu Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg584Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg587Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg602Cys Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Arg602His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg619His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg623His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg633Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg633His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg641Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg641Ter Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg681Lys Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Arg721Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg752Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg752Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg822Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg848Ser Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Arg853Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg883Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg903Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg907Cys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg907His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1084His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1157Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn131Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn133Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1594Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1644Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn1688Ser Multiple submitters ⚠
p.Asn16Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn232Asp Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Asn322Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn337Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn33Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn357Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn361Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn589Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn75Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn769Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asn834Ser Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Asn982Ser Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1016Asn Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1021Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1095Ala Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1147Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1326Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1528Tyr Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1567Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1606His Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp1647Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp1736Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp231Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp231Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp393Asn Multiple submitters neuroblastoma ⚠
p.Asp53Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp553Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp906Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp917Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp929Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp942Asn Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Asp946Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Asp946Gly Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asp954His Multiple submitters
p.Cys1635Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Cys1771Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1011Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1011Glu Multiple submitters
p.Gln1207Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1245Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1548Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1548His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1668Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln1751Ter Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln1759His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln29His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln617Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln758Arg Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln788Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln788Glu Multiple submitters Charcot-Marie-Tooth disease type 2A1
p.Glu1001= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1105Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu1153Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu1192Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu1257Asp Multiple submitters ⚠
p.Glu1516Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu1562Lys Multiple submitters pheochromocytoma ⚠
p.Glu1572Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu1685Lys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu1694Lys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu239Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu287Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu499Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu506= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu586Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu598Asp Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu601Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu601Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu63Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu643Lys Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Glu645Gly Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu734_Glu736del Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu736del Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu854Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu861Lys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu869Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu871Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Glu871Lys Multiple submitters pheochromocytoma ⚠
p.Glu902Lys Multiple submitters Charcot-Marie-Tooth disease type 2
p.Glu926Lys Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly1055Cys Multiple submitters pheochromocytoma ⚠
p.Gly1102Arg Multiple submitters
p.Gly1159Arg Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Gly1277Asp Multiple submitters KIF1B-related disorder ⚠
p.Gly1616Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly1800Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly573Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly591delinsValPro Multiple submitters neuroblastoma, susceptibility to, 1
p.Gly591Val Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly768Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly876Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly891Glu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly898Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly898Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly944Ser Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Gly952Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly959_Asp961del Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1200Tyr Multiple submitters Charcot-Marie-Tooth disease type 2
p.His1774Gln Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.His575Tyr Multiple submitters Charcot-Marie-Tooth disease type 2
p.His636Asp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.His757Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.His757Tyr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1074Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile118Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1258Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1298Val Multiple submitters Charcot-Marie-Tooth disease type 2A1 ⚠
p.Ile1441Phe Multiple submitters pheochromocytoma
p.Ile1489Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile149Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1545Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1571Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1612Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1615Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1693Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile1744Thr Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Ile1802Met Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ile1802Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile192Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile223Thr Multiple submitters neuroblastoma, susceptibility to, 1 ⚠
p.Ile223Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile27Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile28Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile37Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile391Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile391Val Multiple submitters
p.Ile484Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile569Val Multiple submitters neuroblastoma, susceptibility to, 1
p.Ile594Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile77Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile920Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1088Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1204Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1252Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1278Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1306Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1369Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1424Pro Multiple submitters ⚠
p.Leu1446Ile Multiple submitters ⚠
p.Leu1501Val Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1513Pro Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Leu1530Phe Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠