SBF2 — 1089 ClinVar variants

All ClinVar germline SBF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 429 flagged for review →

36 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 47 Conflicting · 63 Benign · 18 Benign/Likely benign · 387 Likely benign · 517 Uncertain significance

Full SBF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 429

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 7

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

SBF2 p.Glu507Lys Conflicting Single submitter
Charcot-Marie-Tooth disease
SBF2 p.Ile1277Met Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Ser1252Cys Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Val1159Ile Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Val1286Ala Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Val1371Leu Conflicting Single submitter
Charcot-Marie-Tooth disease
SBF2 p.Val449Leu Conflicting Single submitter
Charcot-Marie-Tooth disease type 4

Predictors lean, ClinVar uncertain 293

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 293

SBF2 p.Ala117Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ala1376Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala166Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala632Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Arg1179His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1289Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Arg1312Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1679Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1823His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg479Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg500Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg520Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Arg600Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn1178Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn1462Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Asn1571Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Asn447Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Asn808Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Asp1368Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp37His Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Cys160Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Cys1828Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Cys525Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Gln368Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu1673Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu22Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly102Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly1712Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly19Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly397Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Gly415Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.His1245Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.His189Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.His285Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.His595Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile1043Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile1055Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Ile1229Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile1346Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ile1365Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile1789Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ile194Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile257Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile300Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Leu1223Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Leu1238Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Leu1262Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Leu1386Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu139Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1521Phe Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu192Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Lys1578Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Lys539Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Met1001Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Met1106Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Met1804Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Met537Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Pro1487Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro256Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro259Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro329Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Pro532Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1282Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ser1296Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1685Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ser235Gly Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ser426Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Thr1192Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Thr1220Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Thr1220Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Thr1253Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr1364Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr541Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr618Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr64Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Thr71Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Trp1382Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Tyr86Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val1244Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val1330Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val358Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Val443Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val526Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val540Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1218Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1288Thr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Ala1351Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala178Ser Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Ala1829Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1835Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Ala414Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala473Thr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Ala499Gly Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Ala518Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala518Val Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg1179Pro Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg1189Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1196Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1249Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1257Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg239Gly Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg239Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg342Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg500Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg500Gly Uncertain significance Single submitter
SBF2 p.Arg554Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg600Trp Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Asn1251Thr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Asn1301Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn1402His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn1493Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn149Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn1557Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Asn446Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn91Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp1630Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp190Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp294Asn Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Asp296Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp37Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp590Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp72Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln111Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln1246His Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Gln1308Arg Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Gln1308His Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Gln1313Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln1391Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln1661Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease
SBF2 p.Gln1833Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln204Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln205Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln209Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln261Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln261His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln368Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln395Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln43Arg Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Gln513Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln55His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln586His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu114Gln Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Glu1381Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu1401Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu1713Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu439Asp Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Glu439Gly Uncertain significance Single submitter
SBF2 p.Glu445Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu507Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu591Lys Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 129

The independent predictors disagree with each other — read with care.

SBF2 p.Ala1359Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1849Val Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1173His Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1176Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1271Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1271His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1275Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1289Trp Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1347Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Arg1508His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg356Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg487Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg890Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Cys305Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Gln182His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Gln29His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu304Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu354Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Glu46Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Gly1465Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ile1416Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ile377Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Ile377Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Leu1254Pro Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu258Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Phe1373Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Phe544Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
SBF2 p.Pro118Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro1430Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Pro470Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro866Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Ser535Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Tyr86Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Val1206Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val122Met Uncertain significance Multiple submitters
Inborn genetic diseases
SBF2 p.Val143Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1241Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ala1291Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1173Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1271Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1275His Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Arg1275Leu Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg1289Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1312Trp Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg1508Cys Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg1508Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg233Thr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg30Lys Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Arg371Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg613Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Arg77Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn158Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn467Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asn599Asp Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Asp330Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Asp335Asn Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Cys1184Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Cys136Phe Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Cys1845Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Cys427Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Gln1474Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln185His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gln475Arg Conflicting Single submitter
Inborn genetic diseases
SBF2 p.Glu1489Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu264Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly138Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly169Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly179Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly483Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Gly780Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.His1201Arg Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.His1451Tyr Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.His277Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.His388Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.His471Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1156Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1157Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1374Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1374Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1407Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1427Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu1459Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu311Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Leu408Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Lys1322Asn Uncertain significance Single submitter
SBF2 p.Lys1375Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Lys249Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Lys406Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Lys524Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Met1440Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Met472Lys Uncertain significance Single submitter
SBF2 p.Met850Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4B2
SBF2 p.Phe116Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Phe1200Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Phe1319Leu Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Phe1475Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Phe174Leu Uncertain significance Single submitter
SBF2 p.Phe41Leu Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Phe436Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Phe474Leu Uncertain significance Single submitter
SBF2 p.Phe48Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro1470Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro1592Ser Uncertain significance Single submitter
SBF2 p.Pro165Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro187Arg Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Pro271Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Pro470Arg Uncertain significance Single submitter
SBF2 p.Pro63Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1211Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1211Tyr Uncertain significance Single submitter
SBF2 p.Ser1273Cys Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Ser1323Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1352Gly Conflicting Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1380Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1428Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser1506Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser175Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Ser409Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr1192Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Thr270Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease
SBF2 p.Tyr1495Cys Uncertain significance Single submitter
SBF2 p.Tyr86Asn Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Val1205Ala Uncertain significance Single submitter
Inborn genetic diseases
SBF2 p.Val199Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Val358Leu Uncertain significance Single submitter
SBF2 p.Val527Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Val552Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Val885Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 4
SBF2 p.Glu739Lys Likely pathogenic No assertion criteria
Charcot-Marie-Tooth disease type 4B2

All SBF2 variants

Pathogenic 36

p.Arg356Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg487Ter Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg77Ter Multiple submitters Inborn genetic diseases
c.1053+2T>C Single submitter
c.4443+1G>A Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1176Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1196Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1433fs Single submitter Charcot-Marie-Tooth disease type 4
p.Asn149fs Single submitter Charcot-Marie-Tooth disease type 4
p.Gln111Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1236Ter Single submitter Inborn genetic diseases
p.Gln1439Ter Single submitter
p.Gln1455Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1735Ter Single submitter Charcot-Marie-Tooth disease type 4B2
p.Gln204Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln205Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln318Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln320Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gln506fs Single submitter Charcot-Marie-Tooth disease type 4
p.Gln598Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu1337Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Glu242Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Gly207Val Single submitter Charcot-Marie-Tooth disease type 4B2
p.Leu183Ter Single submitter
p.Leu323fs Single submitter Charcot-Marie-Tooth disease type 4
p.Phe65fs Single submitter Charcot-Marie-Tooth disease type 4
p.Pro1626fs Single submitter Charcot-Marie-Tooth disease type 4B2
p.Ser1397fs Single submitter Charcot-Marie-Tooth disease type 4
p.Ser1516Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Thr39fs Single submitter Charcot-Marie-Tooth disease type 4
p.Trp1267Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr129Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr1432Ter Single submitter Charcot-Marie-Tooth disease type 4
p.Tyr252fs Single submitter Charcot-Marie-Tooth disease type 4
c.1088_1296+646del No assertion criteria Charcot-Marie-Tooth disease type 4B2
p.Gln959Ter No assertion criteria Charcot-Marie-Tooth disease type 4B2

Pathogenic/Likely pathogenic 3

c.1601-2A>G Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.619+1G>A Multiple submitters
p.Arg342Ter Multiple submitters Charcot-Marie-Tooth disease type 4B2

Likely pathogenic 18

c.3653-1G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.1054-15_1054-2del Single submitter Charcot-Marie-Tooth disease type 4
c.1297-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1395+1G>A Single submitter Charcot-Marie-Tooth disease
c.3652+1G>C Single submitter Charcot-Marie-Tooth disease type 4
c.3979-2A>G Single submitter Charcot-Marie-Tooth disease type 4
c.4257+1G>A Single submitter
c.4444-1G>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.5451+2T>G Single submitter
c.56-1G>A Single submitter Charcot-Marie-Tooth disease type 4
p.Ile273fs Single submitter Charcot-Marie-Tooth disease type 4B2
p.Lys1444fs Single submitter Charcot-Marie-Tooth disease type 4B2
p.Pro636fs Single submitter Charcot-Marie-Tooth disease type 4B2
p.Thr220fs Single submitter
p.Thr270fs Single submitter SBF2-related disorder
p.Trp54Ter Single submitter Charcot-Marie-Tooth disease type 4B2
p.Val115fs Single submitter Charcot-Marie-Tooth disease type 4B2
p.Glu739Lys No assertion criteria Charcot-Marie-Tooth disease type 4B2 ⚠

Conflicting classifications of pathogenicity 47

c.1296+13T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1396-6T>C Single submitter Charcot-Marie-Tooth disease type 4
c.2537-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.280-5T>C Single submitter Inborn genetic diseases
c.3257-5C>G Single submitter Charcot-Marie-Tooth disease type 4
c.3652+6C>T Single submitter
c.3653-4A>G Single submitter Inborn genetic diseases
c.3979-4G>A Single submitter Inborn genetic diseases
c.3979-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.402+5A>G Single submitter Inborn genetic diseases
c.403-15T>G Single submitter Charcot-Marie-Tooth disease type 4
c.514-12C>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.5232-7C>A Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1275His Single submitter Inborn genetic diseases ⚠
p.Arg1508Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1679= Single submitter Inborn genetic diseases
p.Arg425= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp604= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1681= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln43= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Gln475Arg Single submitter Inborn genetic diseases ⚠
p.Glu503= Single submitter Inborn genetic diseases
p.Glu507Lys Single submitter Charcot-Marie-Tooth disease ⚠
p.Gly168= Single submitter Charcot-Marie-Tooth disease type 4
p.His1201Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.His388= Single submitter Inborn genetic diseases
p.Ile1277Met Single submitter Inborn genetic diseases ⚠
p.Leu1194= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu316= Single submitter Inborn genetic diseases
p.Pro259= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Pro314= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Ser1252Cys Single submitter Inborn genetic diseases ⚠
p.Ser1273= Single submitter Charcot-Marie-Tooth disease
p.Ser1296= Single submitter Inborn genetic diseases
p.Ser1352Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ser1369= Single submitter Inborn genetic diseases
p.Ser1644= Single submitter Charcot-Marie-Tooth disease type 4
p.Ser235= Single submitter Inborn genetic diseases
p.Thr1281= Single submitter Inborn genetic diseases
p.Thr1668= Single submitter Charcot-Marie-Tooth disease type 4
p.Val1159Ile Single submitter Inborn genetic diseases ⚠
p.Val1286Ala Single submitter Inborn genetic diseases ⚠
p.Val1371Leu Single submitter Charcot-Marie-Tooth disease ⚠
p.Val1505= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Val449Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Val657= Single submitter Inborn genetic diseases
c.4443+1G>C No assertion criteria Charcot-Marie-Tooth disease

Benign 63

c.1167+74C>T Multiple submitters
c.1167+75G>T Multiple submitters
c.1395+80T>G Multiple submitters
c.1711-84G>A Multiple submitters
c.1711-85C>T Multiple submitters
c.1860+58A>G Multiple submitters
c.3111-6T>C Multiple submitters Charcot-Marie-Tooth disease
c.3455+36C>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.3653-233C>T Multiple submitters
c.3794-20C>T Multiple submitters Charcot-Marie-Tooth disease
c.4155+91T>C Multiple submitters
c.4156-183T>A Multiple submitters
c.4156-46C>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.4443+224C>G Multiple submitters
c.4933-15T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.514-53A>T Multiple submitters
c.56-64G>A Multiple submitters
c.620-75T>C Multiple submitters
c.753-16T>A Multiple submitters Charcot-Marie-Tooth disease
c.*1144A>G Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*1364C>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*1515G>A Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*1619A>C Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*40A>C Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*514C>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
p.Gln1216Glu Multiple submitters Charcot-Marie-Tooth disease type 4
p.Glu679Lys Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile950= Multiple submitters Charcot-Marie-Tooth disease
p.Pro303= Multiple submitters Charcot-Marie-Tooth disease
c.1054-293_1054-286dup Single submitter
c.1167+165_1167+166dup Single submitter
c.1168-13del Single submitter Charcot-Marie-Tooth disease type 4
c.1296+193T>C Single submitter
c.1296+290G>A Single submitter
c.141+275G>A Single submitter
c.141+286A>G Single submitter
c.142-14del Single submitter Charcot-Marie-Tooth disease type 4
c.1601-307G>A Single submitter
c.1601-327T>C Single submitter
c.1601-6del Single submitter Charcot-Marie-Tooth disease type 4
c.1710+287T>A Single submitter
c.1711-158dup Single submitter
c.1711-266A>C Single submitter
c.3456-145T>C Single submitter
c.3653-288G>A Single submitter
c.3978+152T>C Single submitter
c.3979-148T>C Single submitter
c.3979-173G>C Single submitter
c.403-5del Single submitter Charcot-Marie-Tooth disease type 4
c.4444-212dup Single submitter
c.5320-9dup Single submitter Charcot-Marie-Tooth disease type 4
c.56-182A>G Single submitter
c.56-262T>A Single submitter
c.619+199C>T Single submitter
c.619+205T>C Single submitter
c.619+247G>A Single submitter
c.752+245_752+246insTTTTAACTGTA Single submitter
c.862-12dup Single submitter Charcot-Marie-Tooth disease type 4
c.862-238A>G Single submitter
c.976-248T>C Single submitter
c.*1399T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1413A>G Single submitter Charcot-Marie-Tooth disease type 4B2
c.*291C>T Single submitter Charcot-Marie-Tooth disease type 4B2

Benign/Likely benign 18

c.142-14dup Multiple submitters Charcot-Marie-Tooth disease
c.1601-20T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.2611-35AATC[6] Multiple submitters Charcot-Marie-Tooth disease
c.3456-22_3456-18del Multiple submitters Charcot-Marie-Tooth disease
c.3652+9CT[2] Multiple submitters Charcot-Marie-Tooth disease type 4
c.4444-18T>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.513+17G>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.5231+14C>T Multiple submitters Charcot-Marie-Tooth disease
c.-118G>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*177A>C Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.*51T>C Multiple submitters Charcot-Marie-Tooth disease type 4B2
p.Ala1376= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ala391= Multiple submitters Inborn genetic diseases
p.Phe215= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Phe31= Multiple submitters Charcot-Marie-Tooth disease type 4B2
p.Pro1366Ser Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr1511= Multiple submitters Charcot-Marie-Tooth disease
p.Val164= Multiple submitters Inborn genetic diseases

Likely benign 387

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

c.1053+122A>G Multiple submitters
c.1167+57C>T Multiple submitters
c.1167+64G>T Multiple submitters
c.1296+12A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.1297-13T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.1395+74C>T Multiple submitters
c.1395+8_1395+11del Multiple submitters Charcot-Marie-Tooth disease type 4
c.1396-87G>A Multiple submitters
c.142-11A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.1711-15C>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.1860+101A>G Multiple submitters
c.1860+10A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.280-122A>T Multiple submitters
c.3652+15A>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.3652+18A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.3979-4G>T Multiple submitters Charcot-Marie-Tooth disease type 4
c.402+15G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.403-82A>G Multiple submitters
c.5038-9C>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.513+18A>T Multiple submitters Charcot-Marie-Tooth disease type 4B2
c.5451+8G>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.5452-13T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.5452-16T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.55+138C>T Multiple submitters
c.56-8A>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.620-9T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.753-16T>C Multiple submitters Charcot-Marie-Tooth disease
c.862-99A>C Multiple submitters
c.862-9C>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.*112G>A Multiple submitters Charcot-Marie-Tooth disease type 4B2
p.Ala200= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Arg487= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asn497= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asp1831= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Asp590= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Cys1150= Multiple submitters Charcot-Marie-Tooth disease
p.Glu1445= Multiple submitters Inborn genetic diseases
p.Gly1403= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Gly1759= Multiple submitters Charcot-Marie-Tooth disease
p.His1503= Multiple submitters Inborn genetic diseases
p.His1603= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile1365= Multiple submitters Inborn genetic diseases
p.Ile1842= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile291= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ile873= Multiple submitters Charcot-Marie-Tooth disease
p.Leu1254= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu1513= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu1649= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu331= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Leu462= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Lys26= Multiple submitters Charcot-Marie-Tooth disease
p.Lys523= Multiple submitters Inborn genetic diseases
p.Lys97= Multiple submitters Inborn genetic diseases
p.Phe1472= Multiple submitters Charcot-Marie-Tooth disease type 4B2
p.Pro269= Multiple submitters Inborn genetic diseases
p.Pro312= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser1279= Multiple submitters Inborn genetic diseases
p.Ser1422= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser175= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Thr1367= Multiple submitters Charcot-Marie-Tooth disease
p.Thr1421= Multiple submitters Inborn genetic diseases
p.Thr541= Multiple submitters Charcot-Marie-Tooth disease
p.Thr618= Multiple submitters Charcot-Marie-Tooth disease
p.Tyr86= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Val1205= Multiple submitters Charcot-Marie-Tooth disease type 4
p.Val1624= Multiple submitters Inborn genetic diseases
p.Val1669= Multiple submitters Charcot-Marie-Tooth disease
c.1053+11del Single submitter Charcot-Marie-Tooth disease type 4
c.1053+15A>T Single submitter Charcot-Marie-Tooth disease type 4
c.1053+8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1054-11T>C Single submitter
c.1054-13C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1054-9T>C Single submitter
c.1167+20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1167+7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1168-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1168-145C>T Single submitter
c.1296+149C>T Single submitter
c.1296+296A>G Single submitter
c.1296+32A>G Single submitter
c.1296+7C>T Single submitter Charcot-Marie-Tooth disease type 4
c.1297-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1297-10T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1297-6T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1396-295T>C Single submitter
c.1396-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1396-9A>G Single submitter Charcot-Marie-Tooth disease type 4
c.141+11G>T Single submitter Charcot-Marie-Tooth disease type 4
c.141+258C>T Single submitter
c.141+9T>A Single submitter Charcot-Marie-Tooth disease type 4
c.142-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.142-14T>G Single submitter Charcot-Marie-Tooth disease type 4
c.142-20T>G Single submitter Charcot-Marie-Tooth disease type 4
c.142-6A>G Single submitter Charcot-Marie-Tooth disease type 4
c.142-9T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1600+14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1600+17_1600+20del Single submitter Charcot-Marie-Tooth disease type 4
c.1601-10C>A Single submitter Charcot-Marie-Tooth disease type 4
c.1601-13A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1601-274C>T Single submitter
c.1601-309C>T Single submitter
c.1601-8_1601-6del Single submitter Charcot-Marie-Tooth disease type 4
c.1601-8T>G Single submitter Charcot-Marie-Tooth disease type 4
c.1710+13_1710+14insGTGG Single submitter Charcot-Marie-Tooth disease type 4
c.1710+15_1710+28del Single submitter Charcot-Marie-Tooth disease type 4
c.1710+181_1710+184dup Single submitter
c.1711-327G>A Single submitter
c.1711-5C>A Single submitter Charcot-Marie-Tooth disease type 4
c.1711-8G>T Single submitter Charcot-Marie-Tooth disease type 4
c.1711-9T>C Single submitter Charcot-Marie-Tooth disease
c.1860+12T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1860+15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.1860+73T>A Single submitter
c.279+14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.279+15A>G Single submitter Charcot-Marie-Tooth disease type 4
c.279+17T>C Single submitter Charcot-Marie-Tooth disease type 4
c.280-17A>C Single submitter Charcot-Marie-Tooth disease type 4
c.280-17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.280-18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.280-193G>A Single submitter
c.280-8T>A Single submitter Charcot-Marie-Tooth disease type 4
c.280-8T>G Single submitter Charcot-Marie-Tooth disease type 4
c.3456-12_3456-11del Single submitter Charcot-Marie-Tooth disease type 4
c.3456-12A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3456-14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.3456-18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.3456-19C>T Single submitter Charcot-Marie-Tooth disease type 4
c.3652+13C>G Single submitter Charcot-Marie-Tooth disease type 4
c.3652+201T>A Single submitter
c.3653-15A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3653-16T>C Single submitter Charcot-Marie-Tooth disease type 4
c.3653-17A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3653-19A>C Single submitter Charcot-Marie-Tooth disease type 4
c.3653-203T>A Single submitter
c.3653-20A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3653-76GATA[6] Single submitter
c.3793+10G>A Single submitter Charcot-Marie-Tooth disease type 4
c.3793+14_3793+16del Single submitter Charcot-Marie-Tooth disease type 4
c.3793+14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3793+17C>A Single submitter Charcot-Marie-Tooth disease type 4
c.3793+17C>T Single submitter Charcot-Marie-Tooth disease type 4
c.3793+235T>A Single submitter
c.3794-11C>A Single submitter Charcot-Marie-Tooth disease type 4
c.3794-11C>T Single submitter Charcot-Marie-Tooth disease type 4
c.3794-18A>G Single submitter Charcot-Marie-Tooth disease type 4
c.3794-19G>A Single submitter Charcot-Marie-Tooth disease type 4
c.3978+10C>A Single submitter Charcot-Marie-Tooth disease type 4
c.3978+7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.3979-20C>A Single submitter Charcot-Marie-Tooth disease type 4
c.3979-256C>T Single submitter
c.3979-9C>T Single submitter Charcot-Marie-Tooth disease type 4
c.402+12_402+13insAAAAAATG Single submitter Charcot-Marie-Tooth disease type 4
c.402+12A>G Single submitter Charcot-Marie-Tooth disease type 4
c.402+14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.402+15G>C Single submitter Charcot-Marie-Tooth disease type 4
c.402+16T>C Single submitter Charcot-Marie-Tooth disease type 4
c.403-11T>C Single submitter Charcot-Marie-Tooth disease type 4
c.403-12A>T Single submitter Charcot-Marie-Tooth disease type 4
c.403-13T>C Single submitter Charcot-Marie-Tooth disease type 4
c.403-19T>A Single submitter Charcot-Marie-Tooth disease type 4
c.403-315G>A Single submitter
c.403-335dup Single submitter
c.403-4G>C Single submitter Charcot-Marie-Tooth disease type 4
c.403-8T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4155+16G>C Single submitter Charcot-Marie-Tooth disease type 4
c.4155+191A>G Single submitter
c.4155+20C>A Single submitter Charcot-Marie-Tooth disease type 4
c.4155+7T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4156-12C>G Single submitter Charcot-Marie-Tooth disease type 4
c.4156-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4156-4T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4156-5C>G Single submitter Charcot-Marie-Tooth disease type 4
c.4156-7C>G Single submitter Charcot-Marie-Tooth disease type 4
c.4156-9G>A Single submitter Charcot-Marie-Tooth disease type 4
c.4257+14C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4257+17del Single submitter Charcot-Marie-Tooth disease type 4
c.4257+20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4257+7T>C Single submitter
c.4258-18A>T Single submitter Charcot-Marie-Tooth disease type 4
c.4258-20C>G Single submitter Charcot-Marie-Tooth disease type 4
c.4258-5C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4258-7G>C Single submitter Charcot-Marie-Tooth disease type 4
c.4443+13A>T Single submitter Charcot-Marie-Tooth disease type 4
c.4443+14G>T Single submitter Charcot-Marie-Tooth disease type 4
c.4443+18G>C Single submitter Charcot-Marie-Tooth disease type 4
c.4443+19A>T Single submitter Charcot-Marie-Tooth disease type 4
c.4443+20G>A Single submitter Charcot-Marie-Tooth disease type 4
c.4444-15C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4570+11G>A Single submitter Charcot-Marie-Tooth disease type 4
c.4570+13A>T Single submitter Charcot-Marie-Tooth disease type 4
c.4570+14T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4570+18C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4570+19T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4570+20T>C Single submitter Charcot-Marie-Tooth disease type 4
c.4698+15C>G Single submitter
c.4698+7dup Single submitter Charcot-Marie-Tooth disease type 4
c.513+10A>G Single submitter Charcot-Marie-Tooth disease type 4
c.513+297G>A Single submitter
c.514-12C>A Single submitter Charcot-Marie-Tooth disease type 4
c.514-9A>G Single submitter Charcot-Marie-Tooth disease type 4
c.5319+6dup Single submitter Charcot-Marie-Tooth disease type 4
c.5452-14A>G Single submitter Charcot-Marie-Tooth disease type 4
c.5452-18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.5452-3T>C Single submitter Charcot-Marie-Tooth disease
c.5452-5T>C Single submitter Charcot-Marie-Tooth disease type 4
c.56-13A>G Single submitter Charcot-Marie-Tooth disease type 4
c.56-219T>C Single submitter
c.619+11570G>C Single submitter
c.619+18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.620-19C>T Single submitter Charcot-Marie-Tooth disease type 4
c.620-8G>A Single submitter Charcot-Marie-Tooth disease type 4
c.752+12A>G Single submitter Charcot-Marie-Tooth disease type 4
c.753-10T>C Single submitter Charcot-Marie-Tooth disease type 4
c.753-18T>C Single submitter Charcot-Marie-Tooth disease type 4
c.753-333A>G Single submitter
c.753-4C>G Single submitter Charcot-Marie-Tooth disease type 4
c.753-80C>T Single submitter
c.861+308C>A Single submitter
c.861+7A>G Single submitter Charcot-Marie-Tooth disease type 4
c.861+9T>A Single submitter Charcot-Marie-Tooth disease
c.861+9T>G Single submitter Charcot-Marie-Tooth disease type 4
c.862-12T>A Single submitter Charcot-Marie-Tooth disease type 4
c.862-15T>C Single submitter Charcot-Marie-Tooth disease type 4
c.862-254A>T Single submitter
c.975+10A>G Single submitter Charcot-Marie-Tooth disease type 4
c.975+317C>T Single submitter
c.975+8A>G Single submitter Charcot-Marie-Tooth disease type 4
c.976-195C>T Single submitter
c.*1091G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*20C>G Single submitter
p.Ala1217= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1259= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1268= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1297= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1315= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala135= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala166= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1849= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala217= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala334= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala357= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala364= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala412= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala574= Single submitter Charcot-Marie-Tooth disease type 4
p.Ala575= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1196= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1326= Single submitter
p.Arg1358= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1388= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1456= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1520= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1823= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg233= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg30= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg361= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg456= Single submitter Charcot-Marie-Tooth disease
p.Arg500= Single submitter Charcot-Marie-Tooth disease type 4
p.Arg613= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn1240= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn1484= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn446= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn512= Single submitter Charcot-Marie-Tooth disease type 4
p.Asn545= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp1379= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp1477= Single submitter Charcot-Marie-Tooth disease type 4
p.Asp621= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Cys1174= Single submitter Charcot-Marie-Tooth disease type 4
p.Cys1828= Single submitter Charcot-Marie-Tooth disease type 4
p.Cys82= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1161= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1236= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln204= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln205= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln461= Single submitter Charcot-Marie-Tooth disease type 4
p.Gln606= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu1232= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu354= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu551= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly1292= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly1465= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly25= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly369= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly421= Single submitter
p.Gly483= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly52= Single submitter Charcot-Marie-Tooth disease type 4
p.Gly94= Single submitter Charcot-Marie-Tooth disease type 4
p.His1201= Single submitter Charcot-Marie-Tooth disease type 4
p.His1387= Single submitter Charcot-Marie-Tooth disease type 4
p.His328= Single submitter Charcot-Marie-Tooth disease type 4
p.His605= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile140= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile1545= Single submitter Charcot-Marie-Tooth disease
p.Ile255= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile273= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile274= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile496= Single submitter Charcot-Marie-Tooth disease type 4
p.Ile505= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu1180= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu1193= Single submitter Charcot-Marie-Tooth disease type 4
p.Leu1248= Single submitter Charcot-Marie-Tooth disease type 4

Uncertain significance 517

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

c.1601-3T>G Multiple submitters Inborn genetic diseases
c.3111-3T>C Multiple submitters Charcot-Marie-Tooth disease type 4
c.3652+5G>A Multiple submitters Charcot-Marie-Tooth disease type 4
c.4257+6C>G Multiple submitters Charcot-Marie-Tooth disease type 4
c.4258-4C>G Multiple submitters Inborn genetic diseases
c.861+5G>C Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ala117Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala1359Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1376Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala166Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1849Val Multiple submitters Inborn genetic diseases ⚠
p.Ala632Thr Multiple submitters Charcot-Marie-Tooth disease type 4B2 ⚠
p.Arg1173His Multiple submitters Inborn genetic diseases ⚠
p.Arg1176Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1179His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1271Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1271His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1275Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1289Gln Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg1289Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1312Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1347Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1508His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1679Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1823His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg356Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg479Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg487Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg500Trp Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg520Gln Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg600Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Arg890Gln Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1178Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1462Tyr Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Asn1571Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Asn447Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn808Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp1368Asn Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Asp37His Multiple submitters Inborn genetic diseases ⚠
p.Cys160Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Cys1828Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys305Arg Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Cys525Arg Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gln182His Multiple submitters Charcot-Marie-Tooth disease type 4B2 ⚠
p.Gln29His Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln368Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gln375Arg Multiple submitters Inborn genetic diseases
p.Glu1673Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu22Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu304Lys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Glu354Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu46Gln Multiple submitters Inborn genetic diseases ⚠
p.Gly102Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly1465Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly1712Glu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly19Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Gly397Cys Multiple submitters Inborn genetic diseases ⚠
p.Gly415Val Multiple submitters Charcot-Marie-Tooth disease ⚠
p.His1245Tyr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.His189Arg Multiple submitters Inborn genetic diseases ⚠
p.His285Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.His595Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile1043Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1055Val Multiple submitters Charcot-Marie-Tooth disease type 4B2 ⚠
p.Ile1229Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1346Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile1365Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile1416Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile1789Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ile194Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile257Val Multiple submitters Inborn genetic diseases ⚠
p.Ile300Val Multiple submitters Inborn genetic diseases ⚠
p.Ile377Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile377Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu1223Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Leu1238Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu1254Pro Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu1262Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1386Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu139Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu1521Phe Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu152Trp Multiple submitters Inborn genetic diseases
p.Leu192Val Multiple submitters Inborn genetic diseases ⚠
p.Leu258Val Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Leu404Phe Multiple submitters Inborn genetic diseases
p.Lys1293Glu Multiple submitters Inborn genetic diseases
p.Lys1311Glu Multiple submitters Inborn genetic diseases
p.Lys1578Arg Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Lys349Glu Multiple submitters Charcot-Marie-Tooth disease
p.Lys539Glu Multiple submitters Inborn genetic diseases ⚠
p.Met1001Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Met1106Val Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Met1804Val Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Met537Thr Multiple submitters Inborn genetic diseases ⚠
p.Phe1373Tyr Multiple submitters Inborn genetic diseases ⚠
p.Phe544Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Pro118Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro1430Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1487Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro256Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro259Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro329Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro470Thr Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro532Ser Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Pro866Thr Multiple submitters Charcot-Marie-Tooth disease type 4B2 ⚠
p.Ser1273Asn Multiple submitters Charcot-Marie-Tooth disease type 4
p.Ser1282Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser1296Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Ser1685Trp Multiple submitters Inborn genetic diseases ⚠
p.Ser235Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser426Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ser535Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr1192Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1220Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr1220Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr1253Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr1364Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr541Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr618Ala Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Thr64Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr71Ala Multiple submitters Inborn genetic diseases ⚠
p.Trp1382Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr1733Cys Multiple submitters Charcot-Marie-Tooth disease type 4
p.Tyr86Cys Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Tyr86Phe Multiple submitters Inborn genetic diseases ⚠
p.Val1206Ala Multiple submitters Inborn genetic diseases ⚠
p.Val122Met Multiple submitters Inborn genetic diseases ⚠
p.Val1244Ala Multiple submitters Inborn genetic diseases ⚠
p.Val1330Ala Multiple submitters Inborn genetic diseases ⚠
p.Val143Met Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val358Ile Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
p.Val443Leu Multiple submitters Inborn genetic diseases ⚠
p.Val526Leu Multiple submitters Inborn genetic diseases ⚠
p.Val540Leu Multiple submitters Charcot-Marie-Tooth disease type 4 ⚠
c.1167+4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.1396-3C>G Single submitter Charcot-Marie-Tooth disease type 4
c.141+5G>A Single submitter Charcot-Marie-Tooth disease type 4
c.1601-4C>G Single submitter Charcot-Marie-Tooth disease type 4B2
c.279+4C>A Single submitter Charcot-Marie-Tooth disease type 4
c.280-6_280-5del Single submitter Charcot-Marie-Tooth disease type 4
c.3456-5T>A Single submitter
c.3794-5T>C Single submitter
c.402+11_402+21del Single submitter Charcot-Marie-Tooth disease type 4
c.403-3C>T Single submitter Charcot-Marie-Tooth disease type 4
c.4156-15_4156-5del Single submitter Charcot-Marie-Tooth disease type 4
c.4443+6T>C Single submitter Charcot-Marie-Tooth disease type 4
c.513+4A>G Single submitter Charcot-Marie-Tooth disease type 4
c.513+5A>G Single submitter Charcot-Marie-Tooth disease type 4B2
c.56-5A>C Single submitter
c.619+6T>A Single submitter Charcot-Marie-Tooth disease type 4
c.620-10dup Single submitter Charcot-Marie-Tooth disease type 4
c.862-7C>G Single submitter Charcot-Marie-Tooth disease type 4B2
c.975+3A>G Single submitter
c.-101A>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.-106C>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.-128C>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.-49G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1255G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1315A>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1405T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1439C>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1441C>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1495T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*154C>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.*1686G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*19G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*305A>G Single submitter Charcot-Marie-Tooth disease type 4B2
c.*375G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*375G>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*418T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*447A>T Single submitter Charcot-Marie-Tooth disease type 4B2
c.*480G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*608G>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*631T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*730G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*731T>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*78G>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*875G>A Single submitter Charcot-Marie-Tooth disease type 4B2
c.*882T>C Single submitter Charcot-Marie-Tooth disease type 4B2
c.*963C>T Single submitter Charcot-Marie-Tooth disease type 4B2
p.Ala113Glu Single submitter Inborn genetic diseases
p.Ala1218Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1241Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1288Thr Single submitter Inborn genetic diseases ⚠
p.Ala1291Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1351Asp Single submitter Charcot-Marie-Tooth disease type 4
p.Ala1351Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala178Ser Single submitter Inborn genetic diseases ⚠
p.Ala1829Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala1835Thr Single submitter Charcot-Marie-Tooth disease type 4B2 ⚠
p.Ala414Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala473Thr Single submitter Inborn genetic diseases ⚠
p.Ala499Gly Single submitter Inborn genetic diseases ⚠
p.Ala518Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Ala518Val Single submitter Inborn genetic diseases ⚠
p.Arg1037His Single submitter Charcot-Marie-Tooth disease type 4B2
p.Arg1173Cys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1179Pro Single submitter Inborn genetic diseases ⚠
p.Arg1189Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1196Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1249Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1257Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1271Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1275Gly Single submitter Charcot-Marie-Tooth disease type 4
p.Arg1275Leu Single submitter Inborn genetic diseases ⚠
p.Arg1289Leu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg1312Trp Single submitter Inborn genetic diseases ⚠
p.Arg1508Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg233Thr Single submitter Inborn genetic diseases ⚠
p.Arg239Gly Single submitter Inborn genetic diseases ⚠
p.Arg239Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg30Lys Single submitter Inborn genetic diseases ⚠
p.Arg342Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg371Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg500Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg500Gly Single submitter ⚠
p.Arg554Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg600Trp Single submitter Inborn genetic diseases ⚠
p.Arg613Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Arg77Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1251Thr Single submitter Inborn genetic diseases ⚠
p.Asn1301Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1402His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1493Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn149Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn1557Tyr Single submitter Charcot-Marie-Tooth disease type 4B2 ⚠
p.Asn158Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn446Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn467Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asn599Asp Single submitter Inborn genetic diseases ⚠
p.Asn616Ser Single submitter Charcot-Marie-Tooth disease type 4
p.Asn91Thr Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp1630Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp190Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp294Asn Single submitter Inborn genetic diseases ⚠
p.Asp296Val Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp330Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp335Asn Single submitter Inborn genetic diseases ⚠
p.Asp37Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp590Asn Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Asp72Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys1184Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Cys136Phe Single submitter Inborn genetic diseases ⚠
p.Cys1845Tyr Single submitter Inborn genetic diseases ⚠
p.Cys427Tyr Single submitter Inborn genetic diseases ⚠
p.Gln111Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln1246His Single submitter Inborn genetic diseases ⚠
p.Gln1308Arg Single submitter Inborn genetic diseases ⚠
p.Gln1308His Single submitter Inborn genetic diseases ⚠
p.Gln1313Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln1391Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln1391His Single submitter Charcot-Marie-Tooth disease type 4
p.Gln1474Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln1661Glu Single submitter Charcot-Marie-Tooth disease ⚠
p.Gln1833Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln185His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln204Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln205Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln209Pro Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln261Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln261His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln368Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln395Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln43Arg Single submitter Inborn genetic diseases ⚠
p.Gln506Pro Single submitter Charcot-Marie-Tooth disease type 4
p.Gln513Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln55His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln586His Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gln620= Single submitter Charcot-Marie-Tooth disease type 4B2
p.Glu114Gln Single submitter Inborn genetic diseases ⚠
p.Glu1230_Gln1231insProSerSerSerIleGlu Single submitter Charcot-Marie-Tooth disease type 4
p.Glu1381Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu1401Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu1412= Single submitter Charcot-Marie-Tooth disease type 4
p.Glu1489Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu1522Gln Single submitter Charcot-Marie-Tooth disease type 4
p.Glu1713Gln Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu264Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu304Gln Single submitter Charcot-Marie-Tooth disease type 4
p.Glu400Lys Single submitter Charcot-Marie-Tooth disease type 4
p.Glu439Asp Single submitter Inborn genetic diseases ⚠
p.Glu439Gly Single submitter ⚠
p.Glu439Val Single submitter Charcot-Marie-Tooth disease type 4
p.Glu445Lys Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu507Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu551Val Single submitter Charcot-Marie-Tooth disease type 4
p.Glu591Lys Single submitter Inborn genetic diseases ⚠
p.Glu89Ala Single submitter Charcot-Marie-Tooth disease ⚠
p.Glu89Asp Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Glu98Gly Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly102Cys Single submitter ⚠
p.Gly1128Asp Single submitter Charcot-Marie-Tooth disease ⚠
p.Gly1204Val Single submitter Charcot-Marie-Tooth disease type 4
p.Gly1378Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly138Ala Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly138Arg Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly169Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly179Glu Single submitter Charcot-Marie-Tooth disease type 4 ⚠
p.Gly1832Glu Single submitter Inborn genetic diseases ⚠
p.Gly196Ser Single submitter Charcot-Marie-Tooth disease type 4 ⚠