ARHGEF10 — 1067 ClinVar variants
All ClinVar germline ARHGEF10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 532 flagged for review →
43 Conflicting · 112 Benign · 24 Benign/Likely benign · 287 Likely benign · 601 Uncertain significance
Full ARHGEF10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 532
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 39
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ARHGEF10 p.Ala112Thr Conflicting Single submitter
- ARHGEF10 p.Ala1239Thr Conflicting Single submitter
- ARHGEF10 p.Ala1306Val Conflicting Single submitter
- ARHGEF10 p.Ala1331Val Conflicting Single submitter
-
ARHGEF10 p.Ala134Val
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Ala154Thr Conflicting Single submitter
-
ARHGEF10 p.Ala712Ser
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Ala960Pro Conflicting Single submitter
- ARHGEF10 p.Arg1323Trp Conflicting Single submitter
- ARHGEF10 p.Arg298Lys Conflicting Single submitter
- ARHGEF10 p.Arg590Cys Conflicting Single submitter
- ARHGEF10 p.Arg662His Conflicting Single submitter
- ARHGEF10 p.Asn747Lys Conflicting Single submitter
- ARHGEF10 p.Asp1255Asn Conflicting Single submitter
-
ARHGEF10 p.Gln1215Arg
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Gln544Leu Conflicting Single submitter
-
ARHGEF10 p.Glu1033Gly
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.His1197Tyr Conflicting Single submitter
-
ARHGEF10 p.His733Tyr
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Ile1344Met Conflicting Single submitter
- ARHGEF10 p.Ile623Val Conflicting Single submitter
- ARHGEF10 p.Leu1107Ile Conflicting Single submitter
- ARHGEF10 p.Leu355Phe Conflicting Single submitter
- ARHGEF10 p.Leu439Val Conflicting Single submitter
- ARHGEF10 p.Leu698Val Conflicting Single submitter
- ARHGEF10 p.Pro951Leu Conflicting Single submitter
- ARHGEF10 p.Ser1246Leu Conflicting Single submitter
-
ARHGEF10 p.Ser1290Leu
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Ser263Leu Conflicting Single submitter
- ARHGEF10 p.Ser276Thr Conflicting Single submitter
-
ARHGEF10 p.Ser688Asn
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Ser961Ala Conflicting Single submitter
- ARHGEF10 p.Thr441Met Conflicting Single submitter
- ARHGEF10 p.Thr510Ala Conflicting Single submitter
- ARHGEF10 p.Thr510Ile Conflicting Single submitter
-
ARHGEF10 p.Thr970Met
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Thr98Met Conflicting Single submitter
- ARHGEF10 p.Val1092Met Conflicting Single submitter
- ARHGEF10 p.Val1318Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 413
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 413
- ARHGEF10 p.Ala1023Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ala1222Glu Uncertain significance Multiple submitters
- ARHGEF10 p.Ala1222Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ala198Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ala341Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ala42Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ala49Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ala651Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ala682Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ala712Val Uncertain significance Multiple submitters
- ARHGEF10 p.Arg1136Trp Uncertain significance Multiple submitters
- ARHGEF10 p.Arg1296His Uncertain significance Multiple submitters
- ARHGEF10 p.Arg1323Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Arg288His Uncertain significance Multiple submitters
- ARHGEF10 p.Asn236Asp Uncertain significance Multiple submitters
- ARHGEF10 p.Asn277Lys Uncertain significance Multiple submitters
- ARHGEF10 p.Asn747Ser Uncertain significance Multiple submitters
-
ARHGEF10 p.Asn820Lys
Uncertain significance
Multiple submitters
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Asn927Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Asp1200His Uncertain significance Multiple submitters
- ARHGEF10 p.Asp475Asn Uncertain significance Multiple submitters
- ARHGEF10 p.Gln1219Arg Uncertain significance Multiple submitters
-
ARHGEF10 p.Gln1327Glu
Uncertain significance
Multiple submitters
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Gln392Arg Uncertain significance Multiple submitters
- ARHGEF10 p.Gln393His Uncertain significance Multiple submitters
- ARHGEF10 p.Gln866Arg Uncertain significance Multiple submitters
-
ARHGEF10 p.Glu1273Asp
Uncertain significance
Multiple submitters
ARHGEF10-related disorder
- ARHGEF10 p.Glu25Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Glu26Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Glu291Asp Uncertain significance Multiple submitters
- ARHGEF10 p.Glu309Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Glu624Ala Uncertain significance Multiple submitters
- ARHGEF10 p.Glu954Lys Uncertain significance Multiple submitters
- ARHGEF10 p.Gly1096Glu Uncertain significance Multiple submitters
- ARHGEF10 p.Gly1229Ala Uncertain significance Multiple submitters
- ARHGEF10 p.Gly54Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Gly56Glu Uncertain significance Multiple submitters
- ARHGEF10 p.Gly65Arg Uncertain significance Multiple submitters
- ARHGEF10 p.His895Arg Uncertain significance Multiple submitters
- ARHGEF10 p.Ile1065Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ile151Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ile152Met Uncertain significance Multiple submitters
- ARHGEF10 p.Ile912Val Uncertain significance Multiple submitters
- ARHGEF10 p.Ile923Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Leu1143Phe Uncertain significance Multiple submitters
- ARHGEF10 p.Leu1232Val Uncertain significance Multiple submitters
- ARHGEF10 p.Leu282Val Uncertain significance Multiple submitters
- ARHGEF10 p.Leu324Pro Uncertain significance Multiple submitters
- ARHGEF10 p.Leu439Arg Uncertain significance Multiple submitters
- ARHGEF10 p.Leu732Phe Uncertain significance Multiple submitters
- ARHGEF10 p.Leu772Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Lys296Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Met301Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Met429Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Met835Val Uncertain significance Multiple submitters
- ARHGEF10 p.Pro105Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Pro1224Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Pro1332Ala Uncertain significance Multiple submitters
- ARHGEF10 p.Pro149Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Pro226Gln Uncertain significance Multiple submitters
- ARHGEF10 p.Pro47Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Pro47Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Pro703Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Ser1009Arg Uncertain significance Multiple submitters
- ARHGEF10 p.Ser261Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ser35Cys Uncertain significance Multiple submitters
- ARHGEF10 p.Ser465Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Ser695Arg Uncertain significance Multiple submitters
- ARHGEF10 p.Thr1112Met Uncertain significance Multiple submitters
- ARHGEF10 p.Thr965Met Uncertain significance Multiple submitters
-
ARHGEF10 p.Tyr669Asp
Uncertain significance
Multiple submitters
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Val1019Asp Uncertain significance Multiple submitters
- ARHGEF10 p.Val109Met Uncertain significance Multiple submitters
- ARHGEF10 p.Val1127Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Val1191Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Val186Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Val343Met Uncertain significance Multiple submitters
- ARHGEF10 p.Val395Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Val412Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Val464Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Val675Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Val819Ala Uncertain significance Multiple submitters
- ARHGEF10 p.Val958Met Uncertain significance Multiple submitters
- ARHGEF10 c.482-3C>T Uncertain significance Single submitter
- ARHGEF10 p.Ala1004Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala1012Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala1018Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala1023Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala1023Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala1025Asp Uncertain significance Single submitter
- ARHGEF10 p.Ala1025Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala1079Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala1160Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala1209Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala1222Val Uncertain significance Single submitter
- ARHGEF10 p.Ala1239Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala1301Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala1322Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala1322Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala192Val Uncertain significance Single submitter
- ARHGEF10 p.Ala204Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala204Val Uncertain significance Single submitter
- ARHGEF10 p.Ala357Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala414Val Uncertain significance Single submitter
- ARHGEF10 p.Ala46Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala49Val Uncertain significance Single submitter
- ARHGEF10 p.Ala513Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala55Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala599Val Uncertain significance Single submitter
- ARHGEF10 p.Ala682Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala699Gly Uncertain significance Single submitter
- ARHGEF10 p.Ala699Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala707Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala712Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala825Val Uncertain significance Single submitter
- ARHGEF10 p.Ala828Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala911Ser Uncertain significance Single submitter
- ARHGEF10 p.Ala949Pro Uncertain significance Single submitter
- ARHGEF10 p.Ala957Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg1136Gln Uncertain significance Single submitter
- ARHGEF10 p.Arg1275Ile Uncertain significance Single submitter
- ARHGEF10 p.Arg1275Thr Uncertain significance Single submitter
- ARHGEF10 p.Arg1316Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg1316His Uncertain significance Single submitter
- ARHGEF10 p.Arg1317Gln Uncertain significance Single submitter
- ARHGEF10 p.Arg1323Pro Uncertain significance Single submitter
- ARHGEF10 p.Arg169His Uncertain significance Single submitter
- ARHGEF10 p.Arg195Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg195His Uncertain significance Single submitter
- ARHGEF10 p.Arg195Pro Uncertain significance Single submitter
- ARHGEF10 p.Arg314Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg347Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg351Gly Uncertain significance Single submitter
- ARHGEF10 p.Arg351Lys Uncertain significance Single submitter
- ARHGEF10 p.Arg463Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg541Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg563Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg590His Uncertain significance Single submitter
- ARHGEF10 p.Arg614Pro Uncertain significance Single submitter
- ARHGEF10 p.Arg639His Uncertain significance Single submitter
- ARHGEF10 p.Arg656His Uncertain significance Single submitter
- ARHGEF10 p.Arg662Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg799Gln Uncertain significance Single submitter
- ARHGEF10 p.Arg944Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg944His Uncertain significance Single submitter
- ARHGEF10 p.Asn1129Ser Uncertain significance Single submitter
- ARHGEF10 p.Asn116Asp Uncertain significance Single submitter
- ARHGEF10 p.Asn138Ser Uncertain significance Single submitter
- ARHGEF10 p.Asn369Lys Uncertain significance Single submitter
- ARHGEF10 p.Asn410Lys Uncertain significance Single submitter
Predictors split 80
The independent predictors disagree with each other — read with care.
- ARHGEF10 p.Arg1108His Uncertain significance Multiple submitters
- ARHGEF10 p.Glu602Lys Uncertain significance Multiple submitters
- ARHGEF10 p.Glu624Gln Uncertain significance Multiple submitters
- ARHGEF10 p.His1117Asn Uncertain significance Multiple submitters
- ARHGEF10 p.Leu1014Met Uncertain significance Multiple submitters
- ARHGEF10 p.Lys865Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Met1177Thr Uncertain significance Multiple submitters
- ARHGEF10 p.Pro130Ser Uncertain significance Multiple submitters
- ARHGEF10 p.Ser914Leu Uncertain significance Multiple submitters
- ARHGEF10 p.Thr1070Ile Uncertain significance Multiple submitters
- ARHGEF10 p.Ala1057Gly Uncertain significance Single submitter
- ARHGEF10 p.Ala134Glu Uncertain significance Single submitter
- ARHGEF10 p.Ala328Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala459Thr Uncertain significance Single submitter
- ARHGEF10 p.Ala459Val Uncertain significance Single submitter
- ARHGEF10 p.Ala569Gly Uncertain significance Single submitter
- ARHGEF10 p.Ala781Gly Uncertain significance Single submitter
- ARHGEF10 p.Arg1108Cys Uncertain significance Single submitter
-
ARHGEF10 p.Arg338Thr
Conflicting
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Arg351Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg528Gln Conflicting Single submitter
- ARHGEF10 p.Arg563Lys Uncertain significance Single submitter
- ARHGEF10 p.Arg656Cys Uncertain significance Single submitter
- ARHGEF10 p.Arg769Ser Uncertain significance Single submitter
- ARHGEF10 p.Arg988Ser Uncertain significance Single submitter
- ARHGEF10 p.Asp334Ala Uncertain significance Single submitter
-
ARHGEF10 p.Asp646Asn
Uncertain significance
Single submitter
autosomal dominant slowed nerve conduction velocity
- ARHGEF10 p.Asp795Glu Uncertain significance Single submitter
- ARHGEF10 p.Glu211Lys Uncertain significance Single submitter
- ARHGEF10 p.Gly1060Arg Uncertain significance Single submitter
- ARHGEF10 p.Gly1061Asp Uncertain significance Single submitter
- ARHGEF10 p.Gly1147Ala Uncertain significance Single submitter
- ARHGEF10 p.Gly132Ser Uncertain significance Single submitter
- ARHGEF10 p.Gly750Arg Uncertain significance Single submitter
- ARHGEF10 p.Gly792Arg Uncertain significance Single submitter
- ARHGEF10 p.Ile1099Thr Uncertain significance Single submitter
- ARHGEF10 p.Ile546Val Uncertain significance Single submitter
- ARHGEF10 p.Leu1049Phe Uncertain significance Single submitter
- ARHGEF10 p.Leu286Pro Uncertain significance Single submitter
- ARHGEF10 p.Leu450Val Uncertain significance Single submitter
- ARHGEF10 p.Lys416Glu Uncertain significance Single submitter
- ARHGEF10 p.Met321Arg Uncertain significance Single submitter
- ARHGEF10 p.Met552Ile Uncertain significance Single submitter
- ARHGEF10 p.Met907Ile Uncertain significance Single submitter
- ARHGEF10 p.Phe443Leu Uncertain significance Single submitter
- ARHGEF10 p.Phe810Leu Uncertain significance Single submitter
- ARHGEF10 p.Phe992Leu Uncertain significance Single submitter
- ARHGEF10 p.Pro1044Ser Uncertain significance Single submitter
- ARHGEF10 p.Pro1164Ser Uncertain significance Single submitter
- ARHGEF10 p.Pro128Ser Uncertain significance Single submitter
- ARHGEF10 p.Pro136Thr Uncertain significance Single submitter
- ARHGEF10 p.Pro561Arg Uncertain significance Single submitter
- ARHGEF10 p.Pro721Thr Uncertain significance Single submitter
- ARHGEF10 p.Pro812Leu Uncertain significance Single submitter
- ARHGEF10 p.Ser1007Phe Uncertain significance Single submitter
- ARHGEF10 p.Ser1029Pro Uncertain significance Single submitter
- ARHGEF10 p.Ser251Leu Uncertain significance Single submitter
- ARHGEF10 p.Ser283Phe Uncertain significance Single submitter
- ARHGEF10 p.Ser613Arg Uncertain significance Single submitter
- ARHGEF10 p.Ser654Arg Uncertain significance Single submitter
- ARHGEF10 p.Thr1173Asn Uncertain significance Single submitter
- ARHGEF10 p.Thr1173Pro Uncertain significance Single submitter
- ARHGEF10 p.Thr571Ile Uncertain significance Single submitter
- ARHGEF10 p.Thr575Lys Uncertain significance Single submitter
- ARHGEF10 p.Thr742Pro Uncertain significance Single submitter
- ARHGEF10 p.Thr801Ala Uncertain significance Single submitter
- ARHGEF10 p.Thr801Met Uncertain significance Single submitter
- ARHGEF10 p.Thr811Ile Uncertain significance Single submitter
- ARHGEF10 p.Trp196Arg Uncertain significance Single submitter
- ARHGEF10 p.Tyr293Cys Likely benign Single submitter
- ARHGEF10 p.Tyr532Cys Uncertain significance Single submitter
- ARHGEF10 p.Tyr604Cys Uncertain significance Single submitter
- ARHGEF10 p.Tyr604His Uncertain significance Single submitter
- ARHGEF10 p.Val1037Ala Uncertain significance Single submitter
- ARHGEF10 p.Val1127Phe Uncertain significance Single submitter
- ARHGEF10 p.Val1178Ala Uncertain significance Single submitter
- ARHGEF10 p.Val395Leu Uncertain significance Single submitter
- ARHGEF10 p.Val486Leu Uncertain significance Single submitter
- ARHGEF10 p.Val680Met Uncertain significance Single submitter
- ARHGEF10 p.Val806Glu Uncertain significance Single submitter
All ARHGEF10 variants
Conflicting classifications of pathogenicity 43
- p.Ala112Thr Single submitter ⚠
- p.Ala1239Thr Single submitter ⚠
- p.Ala1306Val Single submitter ⚠
- p.Ala1331Val Single submitter ⚠
- p.Ala134Val Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Ala154Thr Single submitter ⚠
- p.Ala712Ser Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Ala949fs Single submitter
- p.Ala960Pro Single submitter ⚠
- p.Arg1323Trp Single submitter ⚠
- p.Arg298Lys Single submitter ⚠
- p.Arg338Thr Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Arg528Gln Single submitter ⚠
- p.Arg590Cys Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Asn747Lys Single submitter ⚠
- p.Asp1255Asn Single submitter ⚠
- p.Asp795= Single submitter autosomal dominant slowed nerve conduction velocity
- p.Gln1215Arg Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Gln544Leu Single submitter ⚠
- p.Glu1033Gly Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.His1197Tyr Single submitter ⚠
- p.His733Tyr Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Ile1344Met Single submitter ⚠
- p.Ile623Val Single submitter ⚠
- p.Leu1107Ile Single submitter ⚠
- p.Leu355Phe Single submitter ⚠
- p.Leu439Val Single submitter ⚠
- p.Leu698Val Single submitter ⚠
- p.Pro951Leu Single submitter ⚠
- p.Ser1246Leu Single submitter ⚠
- p.Ser1290Leu Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Ser263Leu Single submitter ⚠
- p.Ser276Thr Single submitter ⚠
- p.Ser688Asn Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Ser961Ala Single submitter ⚠
- p.Thr441Met Single submitter ⚠
- p.Thr510Ala Single submitter ⚠
- p.Thr510Ile Single submitter ⚠
- p.Thr970Met Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Thr98Met Single submitter ⚠
- p.Val1092Met Single submitter ⚠
- p.Val1318Met Single submitter ⚠
Benign 112
- c.1075+13A>G Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.1182+117C>T Multiple submitters
- c.1260+4C>T Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.1261-48G>C Multiple submitters
- c.1557+86G>A Multiple submitters
- c.1558-37C>T Multiple submitters
- c.1558-54C>A Multiple submitters
- c.1650+67C>T Multiple submitters
- c.1651-65C>T Multiple submitters
- c.1821+154G>T Multiple submitters
- c.193+100A>G Multiple submitters
- c.193+52A>G Multiple submitters
- c.193+53G>A Multiple submitters
- c.193+72T>G Multiple submitters
- c.193+91T>C Multiple submitters
- c.194-12C>T Multiple submitters
- c.194-3del Multiple submitters
- c.1968-168A>G Multiple submitters
- c.1968-94T>C Multiple submitters
- c.1968-95G>A Multiple submitters
- c.2143+13T>G Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.2143+65T>C Multiple submitters
- c.2144-138T>C Multiple submitters
- c.2144-16T>G Multiple submitters
- c.2144-174G>A Multiple submitters
- c.2388-44G>C Multiple submitters
- c.2697+103C>T Multiple submitters
- c.3222+144A>T Multiple submitters
- c.3222+153G>T Multiple submitters
- c.3397+141A>G Multiple submitters
- c.3397+66C>A Multiple submitters
- c.3398-16A>G Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.3398-7C>T Multiple submitters
- c.3520+117G>C Multiple submitters
- c.3520+184A>G Multiple submitters
- c.3521-88C>T Multiple submitters
- c.37+36T>G Multiple submitters
- c.37+60C>T Multiple submitters
- c.37+61G>A Multiple submitters
- c.37+70C>T Multiple submitters
- c.37+83A>G Multiple submitters
- c.38-81G>T Multiple submitters
- c.481+89G>C Multiple submitters
- c.623-46G>C Multiple submitters
- c.623-74G>T Multiple submitters
- c.679+122T>C Multiple submitters
- c.680-141G>C Multiple submitters
- c.680-148C>G Multiple submitters
- c.680-184G>C Multiple submitters
- c.843+15C>T Multiple submitters
- c.844-36C>G Multiple submitters
- c.961-7G>A Multiple submitters
- c.-47-86C>T Multiple submitters
- p.Ala197= Multiple submitters
- p.Asp158= Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Glu210= Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Gly1235= Multiple submitters
- p.Gly402= Multiple submitters
- p.His1146= Multiple submitters
- p.Ile912= Multiple submitters
- p.Leu370Phe Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Leu549= Multiple submitters
- p.Met664Thr Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Phe371= Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Pro1325Ser Multiple submitters
- p.Pro860= Multiple submitters
- p.Ser1246= Multiple submitters
- p.Ser984Ala Multiple submitters
- p.Thr919Pro Multiple submitters
- p.Tyr685= Multiple submitters
- p.Val129= Multiple submitters autosomal dominant slowed nerve conduction velocity
- p.Val700Ile Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.1075+12_1075+13insGGGTCTTCTTGC Single submitter
- c.1076-4del Single submitter
- c.1440+122A>G Single submitter
- c.1557+18dup Single submitter
- c.1651-188del Single submitter
- c.1822-4C>G Single submitter
- c.193+178A>G Single submitter
- c.193+51_193+52insGGTCCCCAGGTGGGTCCCCAGGTG Single submitter
- c.193+53_193+54insGTGGG Single submitter
- c.194-199A>G Single submitter
- c.194-208A>G Single submitter
- c.1968-12del Single submitter
- c.2488+158C>T Single submitter
- c.2610+148T>C Single submitter
- c.2697+19G>A Single submitter
- c.2921+19G>A Single submitter
- c.3223-137C>T Single submitter
- c.3397+1804G>A Single submitter
- c.38-146T>C Single submitter
- c.38-8_38-4del Single submitter
- c.38-80ATCT[11] Single submitter
- c.38-80ATCT[13] Single submitter
- c.38-81_38-70del Single submitter
- c.38-81_38-74del Single submitter
- c.38-82_38-81insTATC Single submitter
- c.38-89GATC[2] Single submitter
- c.481+165C>T Single submitter
- c.482-207C>G Single submitter
- c.482-4G>C Single submitter
- c.546-103AC[12] Single submitter
- c.623-134T>C Single submitter
- c.843+19T>C Single submitter
- c.960+120T>C Single submitter
- p.Ala1025= Single submitter
- p.Ala60= Single submitter
- p.Arg1320Ser Single submitter
- p.Asn883= Single submitter
- p.Phe477= Single submitter
- p.Ser1093= Single submitter
- p.Ser1138= Single submitter
Benign/Likely benign 24
- c.1076-4dup Multiple submitters
- c.1440+10C>T Multiple submitters
- c.1557+18del Multiple submitters
- c.193+48_193+71del Multiple submitters
- c.2921+5G>C Multiple submitters
- c.3397+8G>T Multiple submitters
- c.3398-14G>A Multiple submitters
- c.38-10T>C Multiple submitters autosomal dominant slowed nerve conduction velocity
- c.482-6C>G Multiple submitters
- p.Ala145Thr Multiple submitters
- p.Ala712= Multiple submitters
- p.Arg275His Multiple submitters
- p.Asp1216= Multiple submitters
- p.Asp1218Glu Multiple submitters
- p.Glu380= Multiple submitters
- p.His834Arg Multiple submitters
- p.Leu245Phe Multiple submitters
- p.Ser1276= Multiple submitters
- p.Thr1173= Multiple submitters
- p.Thr530= Multiple submitters
- p.Thr801= Multiple submitters
- p.Val1144Phe Multiple submitters
- p.Val325Met Multiple submitters
- p.Val938Ile Multiple submitters autosomal dominant slowed nerve conduction velocity
Likely benign 287
- c.1183-18C>A Multiple submitters
- c.1183-5A>G Multiple submitters
- c.1441-9G>A Multiple submitters
- c.1558-18C>T Multiple submitters
- c.2260-20C>T Multiple submitters
- c.2387+20C>T Multiple submitters
- c.2698-7G>A Multiple submitters
- c.3080-18G>C Multiple submitters
- c.3222+9C>T Multiple submitters
- c.3223-11C>T Multiple submitters
- c.3397+16G>A Multiple submitters
- c.38-9T>A Multiple submitters
- c.622+18C>G Multiple submitters
- c.960+16C>T Multiple submitters
- c.960+17G>A Multiple submitters
- c.961-13C>T Multiple submitters
- p.Ala1057= Multiple submitters
- p.Ala1160= Multiple submitters
- p.Ala689Thr Multiple submitters
- p.Ala707= Multiple submitters
- p.Asp330= Multiple submitters
- p.Asp334= Multiple submitters
- p.Asp620= Multiple submitters
- p.Cys153= Multiple submitters
- p.Glu831= Multiple submitters
- p.His1267= Multiple submitters
- p.Ile1190= Multiple submitters
- p.Leu282= Multiple submitters
- p.Phe31= Multiple submitters
- p.Pro108= Multiple submitters
- p.Pro1212= Multiple submitters
- p.Pro379= Multiple submitters
- p.Pro425= Multiple submitters
- p.Pro561= Multiple submitters
- p.Pro956= Multiple submitters
- p.Ser176= Multiple submitters
- p.Ser263= Multiple submitters
- p.Ser469= Multiple submitters
- p.Ser48= Multiple submitters
- p.Tyr532= Multiple submitters
- p.Val940Phe Multiple submitters
- c.1076-8T>A Single submitter
- c.1182+16C>G Single submitter
- c.1183-4A>C Single submitter
- c.1183-7C>T Single submitter
- c.1260+13C>T Single submitter
- c.1260+15T>C Single submitter
- c.1261-16G>A Single submitter
- c.1441-10T>G Single submitter
- c.1557+13T>G Single submitter
- c.1557+15T>C Single submitter
- c.1557+7G>A Single submitter
- c.1558-6C>G Single submitter
- c.1650+12A>C Single submitter
- c.1650+13C>G Single submitter
- c.1650+13C>T Single submitter
- c.1650+4A>C Single submitter
- c.1651-10T>C Single submitter
- c.1651-15C>G Single submitter
- c.1651-16C>A Single submitter
- c.1651-20C>T Single submitter
- c.1822-19C>T Single submitter
- c.1822-6G>A Single submitter
- c.193+15GGGTCCCCAGGTGAGTCCCCAGGT[3] Single submitter
- c.193+17G>C Single submitter
- c.193+28_193+39dup Single submitter
- c.193+51_193+52insGATCCCCAGGTGGGTCCCCAGGTGAGTCACCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCATGTGAGTCACCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGATCCCCAGGTGGGTCCCCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCAGGTG Single submitter
- c.193+7T>C Single submitter
- c.194-10G>A Single submitter
- c.194-4C>G Single submitter
- c.1967+12A>C Single submitter
- c.1968-12T>G Single submitter
- c.1968-7G>A Single submitter
- c.1968-7G>C Single submitter
- c.2143+12T>A Single submitter
- c.2143+8A>G Single submitter
- c.2143+9T>C Single submitter
- c.2144-19del Single submitter
- c.2144-19dup Single submitter
- c.2259+15A>G Single submitter
- c.2259+16A>G Single submitter
- c.2259+8T>C Single submitter autosomal dominant slowed nerve conduction velocity
- c.2259+9T>C Single submitter
- c.2260-19G>A Single submitter
- c.2260-5del Single submitter
- c.2388-16C>G Single submitter
- c.2489-5T>C Single submitter
- c.2610+11G>A Single submitter
- c.2611-17A>G Single submitter
- c.2611-18G>T Single submitter
- c.2611-9C>A Single submitter
- c.2697+19G>T Single submitter
- c.2921+12T>A Single submitter
- c.2921+12T>C Single submitter
- c.2921+13C>A Single submitter
- c.2921+18C>G Single submitter
- c.2921+8A>G Single submitter
- c.2922-17G>C Single submitter
- c.3079+14C>T Single submitter
- c.3079+16C>T Single submitter
- c.3222+18C>T Single submitter
- c.3223-10G>A Single submitter
- c.3397+10C>T Single submitter
- c.3397+15C>T Single submitter
- c.3397+19G>A Single submitter
- c.3398-16A>C Single submitter
- c.3398-3del Single submitter
- c.3520+19C>G Single submitter
- c.3521-4del Single submitter
- c.3521-8C>G Single submitter
- c.37+15T>C Single submitter
- c.38-8del Single submitter
- c.481+10CCCTCCTCTCCACGCCCCCGAAGTGGCCTGTGGTT[3] Single submitter
- c.481+57C>T Single submitter
- c.482-20C>T Single submitter
- c.545+12C>T Single submitter
- c.545+18C>A Single submitter
- c.545+7G>A Single submitter
- c.622+19C>T Single submitter
- c.623-17del Single submitter
- c.680-11T>C Single submitter
- c.680-16G>C Single submitter
- c.843+14G>A Single submitter
- c.843+47C>G Single submitter autosomal dominant slowed nerve conduction velocity
- c.844-17G>A Single submitter
- c.844-6C>T Single submitter
- c.960+13C>A Single submitter
- c.960+14C>A Single submitter
- c.960+7T>G Single submitter
- c.961-11C>T Single submitter
- c.961-20C>A Single submitter
- c.961-4G>A Single submitter
- c.961-9C>T Single submitter
- c.-48+1986C>G Single submitter
- c.*12G>A Single submitter
- p.Ala1023= Single submitter
- p.Ala1079= Single submitter
- p.Ala1091= Single submitter
- p.Ala1124Thr Single submitter
- p.Ala1303= Single submitter
- p.Ala1306= Single submitter
- p.Ala1331= Single submitter
- p.Ala342= Single submitter
- p.Ala42= Single submitter
- p.Ala459= Single submitter
- p.Ala46= Single submitter
- p.Ala699= Single submitter
- p.Ala781= Single submitter
- p.Ala864= Single submitter
- p.Ala911= Single submitter
- p.Arg1136= Single submitter
- p.Arg1292= Single submitter
- p.Arg1296= Single submitter
- p.Arg338= Single submitter
- p.Asn1122= Single submitter
- p.Asn601= Single submitter
- p.Asn628= Single submitter
- p.Asn877= Single submitter
- p.Asn927= Single submitter
- p.Asp1221= Single submitter
- p.Asp190= Single submitter
- p.Asp215= Single submitter
- p.Asp216= Single submitter
- p.Asp475= Single submitter
- p.Asp681= Single submitter
- p.Asp842= Single submitter
- p.Asp952= Single submitter
- p.Asp962Gly Single submitter
- p.Cys123= Single submitter
- p.Cys131= Single submitter
- p.Cys591= Single submitter
- p.Glu114Lys Single submitter
- p.Glu1198Lys Single submitter
- p.Glu189Val Single submitter
- p.Glu972= Single submitter
- p.Gly1041= Single submitter
- p.Gly1094= Single submitter
- p.Gly1096= Single submitter
- p.Gly118Cys Single submitter
- p.Gly1312= Single submitter
- p.Gly187Ser Single submitter
- p.Gly237= Single submitter
- p.Gly53= Single submitter
- p.Gly690= Single submitter
- p.Gly969= Single submitter
- p.His1183= Single submitter
- p.His1197= Single submitter
- p.His120= Single submitter
- p.His278= Single submitter
- p.His858= Single submitter
- p.Ile1123= Single submitter
- p.Ile400= Single submitter
- p.Ile771= Single submitter
- p.Ile871= Single submitter
- p.Ile900= Single submitter
- p.Ile923= Single submitter
- p.Ile95= Single submitter
- p.Leu1010= Single submitter
- p.Leu1014= Single submitter
- p.Leu1055= Single submitter
- p.Leu1115= Single submitter
- p.Leu1143= Single submitter
- p.Leu1291= Single submitter
- p.Leu142= Single submitter
- p.Leu313= Single submitter
- p.Leu324= Single submitter
- p.Leu455= Single submitter
- p.Leu534= Single submitter
- p.Leu616= Single submitter
- p.Leu677= Single submitter
- p.Leu706= Single submitter
- p.Leu855= Single submitter
- p.Leu882= Single submitter
- p.Lys1201= Single submitter
- p.Lys432= Single submitter
- p.Lys554= Single submitter
- p.Lys637= Single submitter
- p.Lys773= Single submitter
- p.Lys815= Single submitter
- p.Lys985= Single submitter
- p.Lys986= Single submitter
- p.Met1150Val Single submitter
- p.Phe497= Single submitter
- p.Phe514= Single submitter
- p.Phe542= Single submitter
- p.Pro110= Single submitter
- p.Pro1162= Single submitter
- p.Pro140= Single submitter
- p.Pro144= Single submitter
- p.Pro149= Single submitter
- p.Pro218= Single submitter
- p.Pro270= Single submitter
- p.Pro387= Single submitter
- p.Pro47= Single submitter
- p.Pro526= Single submitter
- p.Pro538= Single submitter
- p.Pro702= Single submitter
- p.Pro721= Single submitter
- p.Pro800= Single submitter
- p.Pro86= Single submitter
- p.Pro953= Single submitter
- p.Pro956Leu Single submitter
- p.Ser1059= Single submitter
- p.Ser1088= Single submitter
- p.Ser1259= Single submitter
- p.Ser1290= Single submitter
- p.Ser1305= Single submitter
- p.Ser252= Single submitter
- p.Ser272= Single submitter
- p.Ser454= Single submitter
- p.Ser525= Single submitter
- p.Ser611= Single submitter
- p.Ser665= Single submitter
- p.Ser674= Single submitter
- p.Ser918= Single submitter
- p.Ser984= Single submitter
- p.Ser998= Single submitter
- p.Thr1006= Single submitter
- p.Thr1112= Single submitter
- p.Thr1140= Single submitter
- p.Thr1173Ser Single submitter
- p.Thr1333= Single submitter
- p.Thr155= Single submitter
- p.Thr352= Single submitter
- p.Thr636= Single submitter
- p.Thr652= Single submitter
- p.Thr691= Single submitter
- p.Thr809= Single submitter
- p.Thr904= Single submitter
- p.Thr98= Single submitter
- p.Tyr1011= Single submitter
- p.Tyr1022= Single submitter
- p.Tyr247= Single submitter
- p.Tyr293Cys Single submitter ⚠
- p.Tyr411= Single submitter
- p.Tyr937= Single submitter
- p.Val1019= Single submitter
- p.Val1095= Single submitter
- p.Val1151= Single submitter
- p.Val150= Single submitter
- p.Val186= Single submitter
- p.Val305= Single submitter
- p.Val405= Single submitter
- p.Val759= Single submitter
- c.37+5C>T No assertion criteria ARHGEF10-related disorder
- p.Arg668= No assertion criteria ARHGEF10-related disorder
- p.Gly54= No assertion criteria ARHGEF10-related disorder
Uncertain significance 601
Showing the top 300 by review status; the full set is in the sitemap.
- c.1557+6C>T Multiple submitters
- p.Ala1023Val Multiple submitters ⚠
- p.Ala1222Glu Multiple submitters ⚠
- p.Ala1222Thr Multiple submitters ⚠
- p.Ala198Thr Multiple submitters ⚠
- p.Ala341Thr Multiple submitters ⚠
- p.Ala42Val Multiple submitters ⚠
- p.Ala49Thr Multiple submitters ⚠
- p.Ala651Val Multiple submitters ⚠
- p.Ala682Val Multiple submitters ⚠
- p.Ala712Val Multiple submitters ⚠
- p.Ala781Val Multiple submitters
- p.Arg1046Gly Multiple submitters
- p.Arg1108His Multiple submitters ⚠
- p.Arg1136Trp Multiple submitters ⚠
- p.Arg1296His Multiple submitters ⚠
- p.Arg1323Gln Multiple submitters ⚠
- p.Arg288His Multiple submitters ⚠
- p.Arg361Ter Multiple submitters myopathy
- p.Arg640Gln Multiple submitters
- p.Asn236Asp Multiple submitters ⚠
- p.Asn277Lys Multiple submitters ⚠
- p.Asn747Ser Multiple submitters ⚠
- p.Asn820Lys Multiple submitters autosomal dominant slowed nerve conduction velocity ⚠
- p.Asn927Ser Multiple submitters ⚠
- p.Asp1200His Multiple submitters ⚠
- p.Asp475Asn Multiple submitters ⚠
- p.Cys839fs Multiple submitters
- p.Gln1219Arg Multiple submitters ⚠
- p.Gln1327Glu Multiple submitters autosomal dominant slowed nerve conduction velocity ⚠
- p.Gln392Arg Multiple submitters ⚠
- p.Gln393His Multiple submitters ⚠
- p.Gln866Arg Multiple submitters ⚠
- p.Glu1273Asp Multiple submitters ARHGEF10-related disorder ⚠
- p.Glu25Gln Multiple submitters ⚠
- p.Glu26Gln Multiple submitters ⚠
- p.Glu291Asp Multiple submitters ⚠
- p.Glu309Gln Multiple submitters ⚠
- p.Glu466Gln Multiple submitters
- p.Glu602Lys Multiple submitters ⚠
- p.Glu624Ala Multiple submitters ⚠
- p.Glu624Gln Multiple submitters ⚠
- p.Glu954Lys Multiple submitters ⚠
- p.Gly1096Glu Multiple submitters ⚠
- p.Gly1229Ala Multiple submitters ⚠
- p.Gly28Ala Multiple submitters
- p.Gly54Ser Multiple submitters ⚠
- p.Gly56Glu Multiple submitters ⚠
- p.Gly65Arg Multiple submitters ⚠
- p.His1117Asn Multiple submitters ⚠
- p.His895Arg Multiple submitters ⚠
- p.Ile1065Thr Multiple submitters ⚠
- p.Ile151Val Multiple submitters ⚠
- p.Ile152Met Multiple submitters ⚠
- p.Ile912Val Multiple submitters ⚠
- p.Ile923Thr Multiple submitters ⚠
- p.Leu1014Met Multiple submitters ⚠
- p.Leu1118Val Multiple submitters
- p.Leu1143Phe Multiple submitters ⚠
- p.Leu1232Val Multiple submitters ⚠
- p.Leu282Val Multiple submitters ⚠
- p.Leu324Pro Multiple submitters ⚠
- p.Leu439Arg Multiple submitters ⚠
- p.Leu576Val Multiple submitters
- p.Leu732Phe Multiple submitters ⚠
- p.Leu772Ser Multiple submitters ⚠
- p.Lys296Gln Multiple submitters ⚠
- p.Lys865Thr Multiple submitters ⚠
- p.Met1177Thr Multiple submitters ⚠
- p.Met301Leu Multiple submitters ⚠
- p.Met429Leu Multiple submitters ⚠
- p.Met835Val Multiple submitters ⚠
- p.Pro1044Ala Multiple submitters
- p.Pro105Leu Multiple submitters ⚠
- p.Pro1224Leu Multiple submitters ⚠
- p.Pro130Ser Multiple submitters ⚠
- p.Pro1332Ala Multiple submitters ⚠
- p.Pro149Ser Multiple submitters ⚠
- p.Pro226Gln Multiple submitters ⚠
- p.Pro47Ser Multiple submitters ⚠
- p.Pro47Thr Multiple submitters ⚠
- p.Pro703Leu Multiple submitters ⚠
- p.Ser1009Arg Multiple submitters ⚠
- p.Ser222Ter Multiple submitters
- p.Ser261Thr Multiple submitters ⚠
- p.Ser35Cys Multiple submitters ⚠
- p.Ser465Thr Multiple submitters ⚠
- p.Ser695Arg Multiple submitters ⚠
- p.Ser914Leu Multiple submitters ⚠
- p.Ser93fs Multiple submitters
- p.Thr1070Ile Multiple submitters ⚠
- p.Thr1112Met Multiple submitters ⚠
- p.Thr965Met Multiple submitters ⚠
- p.Tyr669Asp Multiple submitters autosomal dominant slowed nerve conduction velocity ⚠
- p.Val1019Asp Multiple submitters ⚠
- p.Val1068fs Multiple submitters
- p.Val109Met Multiple submitters ⚠
- p.Val1127Leu Multiple submitters ⚠
- p.Val1159Met Multiple submitters
- p.Val1191Ile Multiple submitters ⚠
- p.Val186Leu Multiple submitters ⚠
- p.Val343Met Multiple submitters ⚠
- p.Val395Ile Multiple submitters ⚠
- p.Val412Ala Multiple submitters
- p.Val412Ile Multiple submitters ⚠
- p.Val464Ile Multiple submitters ⚠
- p.Val675Ile Multiple submitters ⚠
- p.Val819Ala Multiple submitters ⚠
- p.Val958Met Multiple submitters ⚠
- c.1075+4C>T Single submitter
- c.1075+5G>A Single submitter
- c.1075+5G>T Single submitter
- c.1076-3_1076-2delinsTG Single submitter autosomal dominant slowed nerve conduction velocity
- c.1076-4T>A Single submitter
- c.1182+1G>T Single submitter
- c.1441-25_1453dup Single submitter
- c.1557+3A>C Single submitter
- c.1651-3T>C Single submitter
- c.1821+3_1821+132delinsATCTT Single submitter
- c.1822-15_1822-14del Single submitter
- c.1822-1G>T Single submitter
- c.1822-3C>T Single submitter
- c.1822-5T>A Single submitter
- c.193+3G>T Single submitter
- c.193+51_193+52insGGTCCCCAGGTGGGTCCCCAGGTGGGTCCCCATGTGAGTCACCAGGTGAGTTCCCAGGTGAGTCCCCAGGTGAGTCCCCAGGTGGGTCCCCAGGTG Single submitter
- c.193+6T>G Single submitter
- c.2143+5G>C Single submitter
- c.2488+3A>G Single submitter
- c.2488+6G>T Single submitter
- c.2489-3C>T Single submitter
- c.2611-3T>C Single submitter
- c.2694_2697+2delinsAA Single submitter
- c.2697+6A>G Single submitter
- c.2922-1G>C Single submitter
- c.3080-10_3080-9del Single submitter
- c.3222+5G>A Single submitter
- c.3223-12_3223-11del Single submitter
- c.3397+4A>C Single submitter
- c.3398-17_3398-16delinsAG Single submitter
- c.3398-7C>G Single submitter
- c.3521-3C>T Single submitter
- c.482-3C>T Single submitter ⚠
- c.545+3A>G Single submitter
- c.679+2T>A Single submitter autosomal dominant slowed nerve conduction velocity
- c.680-13T>A Single submitter
- c.843+4C>T Single submitter
- c.843+5G>A Single submitter
- p.Ala1004Pro Single submitter ⚠
- p.Ala1012Thr Single submitter ⚠
- p.Ala1018Ser Single submitter ⚠
- p.Ala1023Pro Single submitter ⚠
- p.Ala1023Thr Single submitter ⚠
- p.Ala1025Asp Single submitter ⚠
- p.Ala1025Pro Single submitter ⚠
- p.Ala1057Gly Single submitter ⚠
- p.Ala1079Ser Single submitter ⚠
- p.Ala1160Thr Single submitter ⚠
- p.Ala1209Thr Single submitter ⚠
- p.Ala1222Val Single submitter ⚠
- p.Ala1239Ser Single submitter ⚠
- p.Ala1301Thr Single submitter ⚠
- p.Ala1322Pro Single submitter ⚠
- p.Ala1322Ser Single submitter ⚠
- p.Ala134Glu Single submitter ⚠
- p.Ala192Val Single submitter ⚠
- p.Ala204Ser Single submitter ⚠
- p.Ala204Val Single submitter ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala459Thr Single submitter ⚠
- p.Ala459Val Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Ala55Ser Single submitter ⚠
- p.Ala569Gly Single submitter ⚠
- p.Ala587Val Single submitter
- p.Ala599Val Single submitter ⚠
- p.Ala682Thr Single submitter ⚠
- p.Ala699Gly Single submitter ⚠
- p.Ala699Thr Single submitter ⚠
- p.Ala707Thr Single submitter ⚠
- p.Ala712Thr Single submitter ⚠
- p.Ala781Gly Single submitter ⚠
- p.Ala825Val Single submitter ⚠
- p.Ala828Pro Single submitter ⚠
- p.Ala911Ser Single submitter ⚠
- p.Ala949Pro Single submitter ⚠
- p.Ala957Ser Single submitter ⚠
- p.Arg1108Cys Single submitter ⚠
- p.Arg1136Gln Single submitter ⚠
- p.Arg1275Ile Single submitter ⚠
- p.Arg1275Thr Single submitter ⚠
- p.Arg1316Cys Single submitter ⚠
- p.Arg1316His Single submitter ⚠
- p.Arg1317Gln Single submitter ⚠
- p.Arg1323fs Single submitter autosomal dominant slowed nerve conduction velocity
- p.Arg1323Pro Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg195His Single submitter ⚠
- p.Arg195Pro Single submitter ⚠
- p.Arg314Ser Single submitter ⚠
- p.Arg347Cys Single submitter ⚠
- p.Arg351Gly Single submitter ⚠
- p.Arg351Lys Single submitter ⚠
- p.Arg351Ser Single submitter ⚠
- p.Arg445Ter Single submitter
- p.Arg463Cys Single submitter ⚠
- p.Arg541Ser Single submitter ⚠
- p.Arg563Lys Single submitter ⚠
- p.Arg563Ser Single submitter ⚠
- p.Arg590His Single submitter ⚠
- p.Arg614Pro Single submitter ⚠
- p.Arg618Ter Single submitter
- p.Arg639His Single submitter ⚠
- p.Arg640Ter Single submitter
- p.Arg656Cys Single submitter ⚠
- p.Arg656His Single submitter ⚠
- p.Arg662Cys Single submitter ⚠
- p.Arg769Ser Single submitter ⚠
- p.Arg799Gln Single submitter ⚠
- p.Arg931Cys Single submitter
- p.Arg944Cys Single submitter ⚠
- p.Arg944His Single submitter ⚠
- p.Arg988Ser Single submitter ⚠
- p.Asn1122Asp Single submitter
- p.Asn1129Ser Single submitter ⚠
- p.Asn116Asp Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn202His Single submitter Charcot-Marie-Tooth disease
- p.Asn369Lys Single submitter ⚠
- p.Asn410Lys Single submitter ⚠
- p.Asn606Asp Single submitter ⚠
- p.Asn628Asp Single submitter ⚠
- p.Asn730Lys Single submitter ⚠
- p.Asn736Ser Single submitter ⚠
- p.Asn756Lys Single submitter ⚠
- p.Asn756Tyr Single submitter ⚠
- p.Asn883His Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp1120His Single submitter ⚠
- p.Asp1216Glu Single submitter ⚠
- p.Asp168Tyr Single submitter ⚠
- p.Asp19del Single submitter
- p.Asp19Tyr Single submitter ⚠
- p.Asp223His Single submitter
- p.Asp223Tyr Single submitter ⚠
- p.Asp233Val Single submitter ⚠
- p.Asp299Gly Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Asp32His Single submitter
- p.Asp32Tyr Single submitter ⚠
- p.Asp330Glu Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Asp334Ala Single submitter ⚠
- p.Asp37Gly Single submitter
- p.Asp406Asn Single submitter ⚠
- p.Asp413Glu Single submitter ⚠
- p.Asp475Glu Single submitter ⚠
- p.Asp488Val Single submitter ⚠
- p.Asp551Val Single submitter ⚠
- p.Asp562Asn Single submitter ⚠
- p.Asp646Asn Single submitter autosomal dominant slowed nerve conduction velocity ⚠
- p.Asp795Glu Single submitter ⚠
- p.Asp843Tyr Single submitter ⚠
- p.Asp96Asn Single submitter ⚠
- p.Asp96Tyr Single submitter
- p.Cys265Ser Single submitter ⚠
- p.Cys839Ser Single submitter ⚠
- p.Gln104Lys Single submitter ⚠
- p.Gln1076His Single submitter ⚠
- p.Gln1135Glu Single submitter ⚠
- p.Gln1215Glu Single submitter ⚠
- p.Gln1234Lys Single submitter ⚠
- p.Gln170His Single submitter ⚠
- p.Gln368Arg Single submitter ⚠
- p.Gln421= Single submitter
- p.Gln45Pro Single submitter ⚠
- p.Gln589Arg Single submitter ⚠
- p.Gln823His Single submitter ⚠
- p.Gln823Lys Single submitter ⚠
- p.Gln916= Single submitter
- p.Glu102del Single submitter
- p.Glu102Gln Single submitter ⚠
- p.Glu1074Lys Single submitter ⚠
- p.Glu114Asp Single submitter ⚠
- p.Glu115Ter Single submitter autosomal dominant slowed nerve conduction velocity
- p.Glu1213Lys Single submitter ⚠
- p.Glu160Lys Single submitter ⚠
- p.Glu177Lys Single submitter ⚠
- p.Glu178Asp Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu211Lys Single submitter ⚠
- p.Glu239= Single submitter
- p.Glu239Ala Single submitter ⚠
- p.Glu246Ala Single submitter ⚠
- p.Glu25Gly Single submitter ⚠
- p.Glu29Asp Single submitter ⚠
- p.Glu366Lys Single submitter ⚠
- p.Glu41Ter Single submitter autosomal dominant slowed nerve conduction velocity