MME — 791 ClinVar variants
All ClinVar germline MME variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →
49 Pathogenic · 17 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 17 Conflicting · 56 Benign · 18 Benign/Likely benign · 257 Likely benign · 336 Uncertain significance
Full MME gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 288
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MME p.Arg718Ser
Conflicting
Single submitter
spinocerebellar ataxia 43
-
MME p.Asn294Ser
Conflicting
Single submitter
spinocerebellar ataxia 43
-
MME p.Asp591Glu
Conflicting
Single submitter
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Cys80Arg
Conflicting
Single submitter
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Ile149Val
Conflicting
Single submitter
Inborn genetic diseases
-
MME p.Ile649Ser
Conflicting
Single submitter
spinocerebellar ataxia 43
-
MME p.Ile649Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Ile666Val
Conflicting
Single submitter
Inborn genetic diseases
-
MME p.Tyr414Cys
Conflicting
Single submitter
Early-onset dementia of unclear type
- MME p.Val604Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 209
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 209
-
MME p.Ala253Pro
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Ala306Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Ala422Asp Uncertain significance Multiple submitters
-
MME p.Ala47Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Ala650Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
MME p.Ala691Val
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Arg103Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Arg223Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Arg23Gln Uncertain significance Multiple submitters
-
MME p.Arg257Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Arg385Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Arg410His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Arg448Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Arg527Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Arg736Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Asn285Ser
Uncertain significance
Multiple submitters
spinocerebellar ataxia 43
- MME p.Asn628Ser Uncertain significance Multiple submitters
-
MME p.Asn689Lys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Asp120Asn Uncertain significance Multiple submitters
-
MME p.Asp150Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Asp265Asn Uncertain significance Multiple submitters
-
MME p.Asp53Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Asp591Asn Uncertain significance Multiple submitters
- MME p.Cys621Tyr Uncertain significance Multiple submitters
-
MME p.Cys80Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Gln446Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Gln453Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Glu172Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Glu172Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Glu499Lys Uncertain significance Multiple submitters
-
MME p.Glu504Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Glu585Lys Uncertain significance Multiple submitters
- MME p.Gly481Ser Uncertain significance Multiple submitters
-
MME p.Gly558Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Gly579Ser
Uncertain significance
Multiple submitters
spinocerebellar ataxia 43
-
MME p.Gly635Asp
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Gly653Glu Uncertain significance Multiple submitters
- MME p.Gly721Arg Uncertain significance Multiple submitters
-
MME p.Gly90Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.His438Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ile130Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ile13Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Ile201Phe Uncertain significance Multiple submitters
-
MME p.Ile237Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ile447Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Ile582Thr Uncertain significance Multiple submitters
-
MME p.Leu314Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Leu38Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Leu500Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Lys159Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Lys472Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Lys745Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Lys745Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Met273Thr
Uncertain significance
Multiple submitters
spinocerebellar ataxia 43
-
MME p.Met741Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Phe733Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Pro16Gln
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Pro563Ala Uncertain significance Multiple submitters
-
MME p.Pro714Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ser520Thr
Uncertain significance
Multiple submitters
MME-related disorder
- MME p.Thr287Met Uncertain significance Multiple submitters
-
MME p.Thr644Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Tyr482Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Tyr507Cys
Uncertain significance
Multiple submitters
MME-related autosomal dominant Charcot Marie Tooth disease type 2
-
MME p.Val116Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Val428Met Uncertain significance Multiple submitters
- MME p.Val581Asp Uncertain significance Multiple submitters
- MME p.Ala136Glu Uncertain significance Single submitter
- MME p.Ala180Thr Uncertain significance Single submitter
- MME p.Ala284Val Uncertain significance Single submitter
- MME p.Ala286Val Uncertain significance Single submitter
- MME p.Ala348Pro Uncertain significance Single submitter
- MME p.Ala42Thr Uncertain significance Single submitter
- MME p.Ala469Val Uncertain significance Single submitter
- MME p.Ala567Asp Uncertain significance Single submitter
- MME p.Ala612Thr Uncertain significance Single submitter
- MME p.Ala661Thr Uncertain significance Single submitter
-
MME p.Ala691Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Ala727Val Uncertain significance Single submitter
- MME p.Ala732Asp Uncertain significance Single submitter
- MME p.Ala732Gly Uncertain significance Single submitter
- MME p.Ala75Gly Uncertain significance Single submitter
-
MME p.Arg223Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Arg229Ser Uncertain significance Single submitter
- MME p.Arg257Ser Uncertain significance Single submitter
- MME p.Arg293Gln Uncertain significance Single submitter
- MME p.Arg410Leu Uncertain significance Single submitter
- MME p.Arg718Lys Uncertain significance Single submitter
-
MME p.Arg736His
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Arg94His Uncertain significance Single submitter
-
MME p.Asn192Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asn317Asp Uncertain significance Single submitter
- MME p.Asn392Ser Uncertain significance Single submitter
-
MME p.Asn491Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Asp120Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Asp295Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Asp295Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asp462Ala Uncertain significance Single submitter
- MME p.Asp505Glu Uncertain significance Single submitter
- MME p.Asp533Gly Uncertain significance Single submitter
-
MME p.Asp591His
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asp82Val Uncertain significance Single submitter
- MME p.Asp9Asn Uncertain significance Single submitter
- MME p.Cys62Arg Uncertain significance Single submitter
- MME p.Cys695Tyr Uncertain significance Single submitter
- MME p.Cys80Ser Uncertain significance Single submitter
- MME p.Gln22His Uncertain significance Single submitter
- MME p.Gln568Lys Uncertain significance Single submitter
- MME p.Gln692Arg Uncertain significance Single submitter
-
MME p.Gln724His
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Glu128Lys Uncertain significance Single submitter
- MME p.Glu155Lys Uncertain significance Single submitter
- MME p.Glu260Ala Uncertain significance Single submitter
- MME p.Glu260Gly Uncertain significance Single submitter
- MME p.Glu278Asp Uncertain significance Single submitter
- MME p.Glu435Asp Uncertain significance Single submitter
-
MME p.Glu449Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Glu617Lys Uncertain significance Single submitter
- MME p.Glu671Lys Uncertain significance Single submitter
- MME p.Glu672Gly Uncertain significance Single submitter
-
MME p.Glu701Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Glu731Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Gly166Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Gly400Ala Uncertain significance Single submitter
-
MME p.Gly417Glu
Uncertain significance
Single submitter
MME-related disorder
- MME p.Gly577Val Uncertain significance Single submitter
- MME p.Gly641Arg Uncertain significance Single submitter
- MME p.Gly654Ala Uncertain significance Single submitter
- MME p.Gly677Glu Uncertain significance Single submitter
- MME p.Gly89Arg Uncertain significance Single submitter
- MME p.His638Arg Uncertain significance Single submitter
- MME p.Ile130Met Uncertain significance Single submitter
- MME p.Ile283Met Uncertain significance Single submitter
-
MME p.Ile444Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Ile486Thr Uncertain significance Single submitter
- MME p.Ile512Asn Uncertain significance Single submitter
- MME p.Ile512Leu Uncertain significance Single submitter
-
MME p.Ile63Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Ile707Val Uncertain significance Single submitter
- MME p.Ile719Phe Uncertain significance Single submitter
-
MME p.Ile719Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Leu158Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Leu191Arg Uncertain significance Single submitter
-
MME p.Leu314Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Leu355His Uncertain significance Single submitter
- MME p.Leu370Val Uncertain significance Single submitter
- MME p.Leu383Arg Uncertain significance Single submitter
-
MME p.Leu398His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Leu498Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Leu515Phe
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 69
The independent predictors disagree with each other — read with care.
-
MME p.Ala703Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Arg257His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Arg395His Uncertain significance Multiple submitters
-
MME p.Arg748Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Arg748Trp
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease axonal type 2T
- MME p.Asp378Val Uncertain significance Multiple submitters
- MME p.Asp9His Uncertain significance Multiple submitters
-
MME p.Gln569Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Gln569Pro
Uncertain significance
Multiple submitters
spinocerebellar ataxia 43
- MME p.Glu509Gly Uncertain significance Multiple submitters
- MME p.Gly225Ala Benign/Likely benign Multiple submitters
-
MME p.Gly636Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ile201Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Lys137Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Met331Ile Uncertain significance Multiple submitters
-
MME p.Met622Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Met73Val Uncertain significance Multiple submitters
-
MME p.Phe375Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MME p.Ser65Pro
Uncertain significance
Multiple submitters
MME-related autosomal dominant Charcot Marie Tooth disease type 2
-
MME p.Trp24Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Tyr238Ser Uncertain significance Multiple submitters
-
MME p.Tyr49Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MME p.Tyr52Cys Uncertain significance Multiple submitters
-
MME p.Ala732Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Arg374Lys Uncertain significance Single submitter
-
MME p.Arg395Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asn106Lys Uncertain significance Single submitter
- MME p.Asn267Tyr Uncertain significance Single submitter
-
MME p.Asn416Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asp112Glu Uncertain significance Single submitter
- MME p.Asp484His Uncertain significance Single submitter
-
MME p.Asp600Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Asp679Tyr Uncertain significance Single submitter
- MME p.Asp9Gly Uncertain significance Single submitter
- MME p.Gln307Arg Uncertain significance Single submitter
- MME p.Gln569Leu Uncertain significance Single submitter
- MME p.Gln684Glu Uncertain significance Single submitter
- MME p.Glu464Lys Uncertain significance Single submitter
- MME p.Glu509Lys Uncertain significance Single submitter
-
MME p.Gly166Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Gly670Asp Uncertain significance Single submitter
- MME p.Gly696Glu Uncertain significance Single submitter
- MME p.Gly715Ser Uncertain significance Single submitter
- MME p.Ile149Thr Uncertain significance Single submitter
-
MME p.Ile283Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Ile316Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Ile559Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Ile649Leu Uncertain significance Single submitter
- MME p.Ile666Thr Uncertain significance Single submitter
- MME p.Leu603Ile Uncertain significance Single submitter
-
MME p.Lys437Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Lys525Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease axonal type 2T
-
MME p.Met249Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Met273Val Uncertain significance Single submitter
-
MME p.Met331Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Met419Thr Uncertain significance Single submitter
- MME p.Met419Val Uncertain significance Single submitter
-
MME p.Phe326Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MME p.Pro562Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Pro743Arg Uncertain significance Single submitter
- MME p.Ser630Phe Uncertain significance Single submitter
-
MME p.Thr100Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Tyr502Ser Uncertain significance Single submitter
- MME p.Tyr52Asp Uncertain significance Single submitter
-
MME p.Tyr702Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Val423Leu Uncertain significance Single submitter
-
MME p.Val542Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MME p.Val542Leu Uncertain significance Single submitter
- MME p.Val623Met Uncertain significance Single submitter
All MME variants
Pathogenic 49
- p.Arg448Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Gln522Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Gly549Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Lys177fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Lys356Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- c.1188+428A>G Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.655-1G>C Single submitter
- c.655-2A>G Single submitter
- p.Ala348fs Single submitter
- p.Arg111_Asp112insTer Single submitter
- p.Arg385Ter Single submitter
- p.Arg527Ter Single submitter
- p.Asn202fs Single submitter
- p.Asn301fs Single submitter
- p.Asn310fs Single submitter
- p.Asn413fs Single submitter
- p.Cys88Ter Single submitter
- p.Gln134Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Gln561Ter Single submitter
- p.Gln609fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Gln637Ter Single submitter
- p.Gln7fs Single submitter
- p.Glu233Ter Single submitter
- p.Ile264fs Single submitter
- p.Ile41_Ala42delinsLeuTer Single submitter
- p.Leu161fs Single submitter
- p.Leu191fs Single submitter
- p.Leu573Ter Single submitter
- p.Lys239fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Lys467fs Single submitter
- p.Phe204fs Single submitter
- p.Ser313fs Single submitter
- p.Ser4Ter Single submitter
- p.Ser630fs Single submitter
- p.Thr100fs Single submitter
- p.Thr77fs Single submitter
- p.Trp24Ter Single submitter
- p.Trp323Ter Single submitter
- p.Trp373_Ile376delinsTer Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Trp535Ter Single submitter
- p.Trp606fs Single submitter
- p.Tyr165fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Tyr347fs Single submitter
- p.Tyr427Ter Single submitter
- p.Tyr502fs Single submitter
- c.439+2T>A No assertion criteria Charcot-Marie-Tooth disease axonal type 2T
- c.654+1G>A No assertion criteria Charcot-Marie-Tooth disease axonal type 2T
- p.Gln221Ter No assertion criteria Charcot-Marie-Tooth disease axonal type 2T
- p.Lys708Ter No assertion criteria MME-related distal hereditary motor neuropathies
Pathogenic/Likely pathogenic 17
- c.1781-2A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- c.440-2A>C Multiple submitters MME-related disorder
- c.536-1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Arg223Ter Multiple submitters
- p.Arg23Ter Multiple submitters spinocerebellar ataxia 43
- p.Arg293Ter Multiple submitters
- p.Arg468fs Multiple submitters MME-related disorder
- p.Arg68Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Gln684Ter Multiple submitters
- p.Glu280Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Gly577Asp Multiple submitters spinocerebellar ataxia 43
- p.His438fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Phe564fs Multiple submitters MME-related disorder
- p.Pro156fs Multiple submitters Charcot-Marie-Tooth disease type 2T
- p.Trp606Ter Multiple submitters MME-related disorder
- p.Tyr104Ter Multiple submitters
- p.Val199fs Multiple submitters spinocerebellar ataxia 43
Likely pathogenic 41
- c.1497+1G>A Multiple submitters MME-related disorder
- c.1497+1G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- c.160+2T>C Multiple submitters
- c.1601+2T>C Multiple submitters MME-related disorder
- c.439+1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Trp167Arg Multiple submitters distal myopathy
- c.1094+1G>A Single submitter
- c.1094+1G>T Single submitter
- c.1188+1G>A Single submitter
- c.1318-1G>C Single submitter
- c.160+1G>A Single submitter
- c.1601+2T>G Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.1981-2A>G Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.2076+1G>A Single submitter
- c.2153+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.436_439+1delinsC Single submitter
- c.439+1del Single submitter
- c.535+1G>C Single submitter
- c.536-1G>T Single submitter MME-related disorder
- c.720+1G>A Single submitter
- c.855+1G>A Single submitter
- c.957+1G>A Single submitter
- c.958-2A>G Single submitter
- p.Ala658Thr Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Ala727fs Single submitter
- p.Cys143Tyr Single submitter MME-related disorder
- p.Cys621Arg Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Gln625Leu Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Glu282Ter Single submitter MME-related disorder
- p.Ile330fs Single submitter
- p.Leu110Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Leu262fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Pro556Ser Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Ser572Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Trp167Ter Single submitter
- p.Trp607fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Trp607Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Trp694Ter Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Val450fs Single submitter MME-related disorder
- c.1095-2A>C No assertion criteria spinocerebellar ataxia 43
- p.Trp631Ter No assertion criteria Charcot-Marie-Tooth disease axonal type 2T
Conflicting classifications of pathogenicity 17
- c.1189-4G>A Single submitter peripheral neuropathy
- c.1661-16T>C Single submitter
- c.1914+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Arg425fs Single submitter Charcot-Marie-Tooth disease axonal type 2T
- p.Arg718Ser Single submitter spinocerebellar ataxia 43 ⚠
- p.Asn294Ser Single submitter spinocerebellar ataxia 43 ⚠
- p.Asp591Glu Single submitter Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Cys80Arg Single submitter Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Glu350fs Single submitter
- p.Gly670= Single submitter
- p.Ile149Val Single submitter Inborn genetic diseases ⚠
- p.Ile649Ser Single submitter spinocerebellar ataxia 43 ⚠
- p.Ile649Thr Single submitter Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ile666Val Single submitter Inborn genetic diseases ⚠
- p.Tyr414Cys Single submitter Early-onset dementia of unclear type ⚠
- p.Val530= Single submitter
- p.Val604Ile Single submitter ⚠
Benign 56
- c.1601+103A>C Multiple submitters
- c.1601+11T>C Multiple submitters
- c.1602-20del Multiple submitters
- c.161-106T>G Multiple submitters
- c.1781-3T>C Multiple submitters
- c.196+37T>C Multiple submitters
- c.197-15T>G Multiple submitters
- c.2076+36C>A Multiple submitters
- c.2077-119G>A Multiple submitters
- c.2153+129A>C Multiple submitters
- c.2154-22A>G Multiple submitters
- c.655-153A>T Multiple submitters
- c.856-83C>T Multiple submitters
- c.957+77C>T Multiple submitters
- c.-10-115G>A Multiple submitters
- c.-10-210A>G Multiple submitters
- c.*159C>T Multiple submitters
- c.*167G>T Multiple submitters
- p.Met8Val Multiple submitters
- c.1095-4A>G Single submitter
- c.1095-7dup Single submitter
- c.1189-324A>G Single submitter
- c.1416+144T>A Single submitter
- c.1780+309T>C Single submitter
- c.1915-6dup Single submitter
- c.196+18C>T Single submitter
- c.1980+12del Single submitter
- c.2153+110_2153+111insT Single submitter
- c.2153+125dup Single submitter
- c.358+265TTTG[4] Single submitter
- c.358+274T>C Single submitter
- c.358+84_358+90del Single submitter
- c.359-269del Single submitter
- c.359-269dup Single submitter
- c.439+32TA[12] Single submitter
- c.439+32TA[13] Single submitter
- c.439+32TA[14] Single submitter
- c.439+32TA[9] Single submitter
- c.655-5dup Single submitter
- c.720+16dup Single submitter
- c.721-166_721-163del Single submitter
- c.721-282T>C Single submitter
- c.721-8del Single submitter
- c.721-8dup Single submitter
- c.855+19del Single submitter
- c.855+19dup Single submitter
- c.957+141_957+142del Single submitter
- c.957+141_957+142dup Single submitter
- c.957+142del Single submitter
- c.957+142dup Single submitter
- c.957+18del Single submitter
- c.957+335C>T Single submitter
- c.958-130C>G Single submitter
- c.958-199G>A Single submitter
- c.958-5dup Single submitter
- p.Gly318= Single submitter
Benign/Likely benign 18
- c.160+13C>T Multiple submitters
- c.160+15C>T Multiple submitters
- c.161-9T>C Multiple submitters
- c.1661-17A>G Multiple submitters
- c.1915-12C>G Multiple submitters
- c.197-4G>C Multiple submitters
- c.720+16del Multiple submitters
- c.855+6A>T Multiple submitters
- p.Gly225Ala Multiple submitters ⚠
- p.Gly417= Multiple submitters
- p.Leu262= Multiple submitters
- p.Met419Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- p.Pro349= Multiple submitters
- p.Tyr104= Multiple submitters
- p.Tyr165= Multiple submitters
- p.Val344= Multiple submitters
- p.Val345Ile Multiple submitters
- p.Val711= Multiple submitters spinocerebellar ataxia 43
Likely benign 257
- c.1188+12dup Multiple submitters
- c.1497+20A>G Multiple submitters
- c.161-11C>T Multiple submitters
- c.161-20A>G Multiple submitters
- c.1780+8G>T Multiple submitters
- c.1781-10T>C Multiple submitters
- c.196+133T>G Multiple submitters
- c.197-104G>A Multiple submitters
- c.2154-13G>A Multiple submitters
- c.855+43C>T Multiple submitters
- c.958-78C>A Multiple submitters
- c.-10-312C>T Multiple submitters
- c.*163G>C Multiple submitters
- p.Ala463= Multiple submitters
- p.Gln684= Multiple submitters
- p.Ile46= Multiple submitters
- p.Leu255= Multiple submitters
- p.Leu603= Multiple submitters
- p.Ser32= Multiple submitters
- p.Ser384= Multiple submitters
- c.1094+18C>A Single submitter
- c.1095-17T>C Single submitter
- c.1095-20C>T Single submitter
- c.1095-6dup Single submitter
- c.1095-7T>C Single submitter
- c.1188+12A>T Single submitter
- c.1188+13T>A Single submitter
- c.1188+16C>G Single submitter
- c.1189-14_1189-7dup Single submitter
- c.1189-15T>G Single submitter
- c.1189-20T>C Single submitter
- c.1189-280A>G Single submitter
- c.1189-5C>T Single submitter
- c.1317+8T>G Single submitter
- c.1318-110G>A Single submitter
- c.1416+13C>G Single submitter
- c.1416+15G>A Single submitter
- c.1416+16C>T Single submitter
- c.1416+5A>G Single submitter
- c.1417-10A>C Single submitter
- c.1417-13A>G Single submitter
- c.1417-186T>C Single submitter
- c.1417-18A>G Single submitter
- c.1498-330C>T Single submitter
- c.160+14A>T Single submitter
- c.1602-11G>C Single submitter
- c.1602-12T>C Single submitter
- c.1602-13A>T Single submitter
- c.1602-294C>T Single submitter
- c.1602-4A>G Single submitter
- c.1602-86G>A Single submitter
- c.161-11C>A Single submitter
- c.161-13C>T Single submitter
- c.161-15C>A Single submitter
- c.161-17T>G Single submitter
- c.1660+12T>C Single submitter
- c.1660+278_1660+282del Single submitter
- c.1660+36T>C Single submitter
- c.1660+9T>C Single submitter
- c.1661-18T>C Single submitter
- c.1780+10A>G Single submitter
- c.1780+11G>A Single submitter
- c.1781-12_1781-9del Single submitter
- c.1781-7A>C Single submitter
- c.1781-7A>G Single submitter
- c.1914+14A>G Single submitter
- c.1914+17C>G Single submitter
- c.1914+18T>C Single submitter
- c.1915-14G>A Single submitter
- c.1915-16G>T Single submitter
- c.1915-19A>G Single submitter
- c.196+10G>T Single submitter
- c.196+15T>C Single submitter
- c.196+18C>A Single submitter
- c.196+19G>A Single submitter
- c.196+4771G>C Single submitter
- c.197-16T>C Single submitter
- c.197-20T>C Single submitter
- c.1980+10A>C Single submitter
- c.1980+11A>G Single submitter
- c.1980+22del Single submitter
- c.1981-10A>C Single submitter
- c.1981-12T>C Single submitter
- c.1981-13A>G Single submitter
- c.1981-14dup Single submitter
- c.1981-6G>A Single submitter
- c.2076+14C>G Single submitter
- c.2076+15T>G Single submitter
- c.2076+17G>A Single submitter
- c.2076+19T>C Single submitter
- c.2076+19T>G Single submitter
- c.2076+20T>A Single submitter
- c.2077-10C>A Single submitter
- c.2077-6C>T Single submitter
- c.2153+10T>C Single submitter
- c.2153+111C>T Single submitter
- c.2153+11A>G Single submitter
- c.2153+124_2153+125dup Single submitter
- c.2153+16C>G Single submitter
- c.2153+16C>T Single submitter
- c.2153+234C>T Single submitter
- c.2153+9A>C Single submitter
- c.2154-10del Single submitter
- c.2154-17T>G Single submitter
- c.2154-18T>C Single submitter
- c.2154-282G>T Single submitter
- c.358+14G>A Single submitter
- c.358+15T>C Single submitter
- c.358+17_358+22del Single submitter
- c.358+20G>C Single submitter
- c.358+20G>T Single submitter
- c.359-3C>T Single submitter
- c.359-40G>C Single submitter
- c.439+12T>C Single submitter
- c.439+14_439+22dup Single submitter
- c.439+7G>A Single submitter
- c.439+9T>C Single submitter
- c.440-13T>C Single submitter
- c.440-17T>C Single submitter
- c.440-19T>C Single submitter
- c.440-8T>A Single submitter
- c.535+18C>T Single submitter
- c.535+19del Single submitter
- c.535+19T>A Single submitter
- c.536-18T>C Single submitter
- c.654+17A>C Single submitter
- c.654+17A>G Single submitter
- c.655-11A>G Single submitter
- c.655-11del Single submitter
- c.655-121T>C Single submitter
- c.655-12T>C Single submitter
- c.655-16T>C Single submitter
- c.655-186G>A Single submitter
- c.655-18T>C Single submitter
- c.655-20T>C Single submitter
- c.655-4A>G Single submitter
- c.655-7T>A Single submitter
- c.655-9T>G Single submitter
- c.720+130T>C Single submitter
- c.720+19A>G Single submitter
- c.721-15A>G Single submitter
- c.721-16T>C Single submitter
- c.721-18G>A Single submitter
- c.721-20G>A Single submitter
- c.855+14T>G Single submitter
- c.855+19T>C Single submitter
- c.855+9C>T Single submitter
- c.856-10A>C Single submitter
- c.856-12T>A Single submitter
- c.856-4A>G Single submitter
- c.957+12G>T Single submitter
- c.957+200C>G Single submitter
- c.957+20T>A Single submitter
- c.958-18A>G Single submitter
- c.958-3del Single submitter
- c.-10-17A>G Single submitter
- p.Ala138= Single submitter
- p.Ala148= Single submitter
- p.Ala288= Single submitter
- p.Ala364= Single submitter
- p.Ala393= Single submitter
- p.Ala397= Single submitter
- p.Ala422= Single submitter
- p.Ala557= Single submitter
- p.Ala650= Single submitter
- p.Ala658= Single submitter
- p.Ala703= Single submitter
- p.Ala727= Single submitter
- p.Ala732= Single submitter
- p.Arg152= Single submitter
- p.Arg257= Single submitter
- p.Arg365= Single submitter Inborn genetic diseases
- p.Asn14= Single submitter
- p.Asn192= Single submitter
- p.Asn267= Single submitter
- p.Asn294= Single submitter
- p.Asn328= Single submitter
- p.Asn416= Single submitter
- p.Asn491= Single submitter
- p.Asn593Ser Single submitter
- p.Asn648= Single submitter
- p.Asn725= Single submitter
- p.Asn95= Single submitter
- p.Asp292Asn Single submitter
- p.Asp484= Single submitter
- p.Asp533= Single submitter
- p.Asp54= Single submitter
- p.Asp651= Single submitter
- p.Cys80= Single submitter
- p.Cys88= Single submitter
- p.Gln22= Single submitter
- p.Glu175= Single submitter
- p.Glu435= Single submitter
- p.Glu78= Single submitter
- p.Gly105Ser Single submitter
- p.Gly166= Single submitter
- p.Gly481= Single submitter
- p.Gly549= Single submitter
- p.Gly576= Single submitter
- p.Gly721= Single submitter
- p.His215= Single submitter
- p.His438= Single submitter
- p.His584= Single submitter
- p.Ile237= Single submitter
- p.Ile264= Single submitter
- p.Ile308= Single submitter
- p.Ile444= Single submitter
- p.Ile480= Single submitter
- p.Ile578= Single submitter
- p.Ile63= Single submitter
- p.Ile666= Single submitter
- p.Leu157= Single submitter
- p.Leu200= Single submitter
- p.Leu226= Single submitter
- p.Leu299= Single submitter
- p.Leu314= Single submitter
- p.Leu370= Single submitter
- p.Leu379= Single submitter
- p.Leu383= Single submitter
- p.Leu493= Single submitter
- p.Leu500= Single submitter
- p.Leu678= Single submitter
- p.Leu685= Single submitter
- p.Leu92= Single submitter
- p.Lys137= Single submitter
- p.Lys525= Single submitter
- p.Phe508= Single submitter
- p.Phe590= Single submitter
- p.Pro26= Single submitter
- p.Pro296= Single submitter
- p.Pro483= Single submitter
- p.Pro562= Single submitter
- p.Pro98= Single submitter
- p.Ser251= Single submitter
- p.Ser382= Single submitter
- p.Ser611= Single submitter
- p.Ser726= Single submitter
- p.Thr127= Single submitter
- p.Thr287= Single submitter
- p.Thr360= Single submitter
- p.Thr386= Single submitter
- p.Thr39= Single submitter
- p.Thr407= Single submitter
- p.Thr465= Single submitter
- p.Thr697= Single submitter
- p.Tyr300= Single submitter
- p.Tyr387= Single submitter
- p.Tyr427= Single submitter
- p.Tyr502= Single submitter
- p.Tyr52= Single submitter
- p.Tyr86= Single submitter
- p.Val345= Single submitter
- p.Val380= Single submitter
- p.Val440= Single submitter
- p.Val542= Single submitter
- p.Val581= Single submitter
- p.Val623= Single submitter
Uncertain significance 336
Showing the top 300 by review status; the full set is in the sitemap.
- c.1094+5G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2T
- c.1095-19G>A Multiple submitters
- c.1601+5G>A Multiple submitters
- c.1914+6T>A Multiple submitters
- c.197-3C>T Multiple submitters
- c.2154-12T>G Multiple submitters
- c.2154-5_2160del Multiple submitters Inborn genetic diseases
- c.957+3A>G Multiple submitters
- c.958-4_958-3delinsG Multiple submitters
- p.Ala253Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ala306Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ala422Asp Multiple submitters ⚠
- p.Ala47Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ala650Thr Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Ala691Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ala703Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg103Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Arg223Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg23Gln Multiple submitters ⚠
- p.Arg257Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg257His Multiple submitters Inborn genetic diseases ⚠
- p.Arg385Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Arg395His Multiple submitters ⚠
- p.Arg410His Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Arg448Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg527Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Arg736Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg748Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg748Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Arg94Cys Multiple submitters
- p.Asn285Ser Multiple submitters spinocerebellar ataxia 43 ⚠
- p.Asn628Ser Multiple submitters ⚠
- p.Asn689Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Asp120Asn Multiple submitters ⚠
- p.Asp150Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp265Asn Multiple submitters ⚠
- p.Asp378Val Multiple submitters ⚠
- p.Asp53Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp591Asn Multiple submitters ⚠
- p.Asp9His Multiple submitters ⚠
- p.Cys621Tyr Multiple submitters ⚠
- p.Cys80Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln446Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln453Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln569Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln569Pro Multiple submitters spinocerebellar ataxia 43 ⚠
- p.Glu172Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu172Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu499Lys Multiple submitters ⚠
- p.Glu504Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu509Gly Multiple submitters ⚠
- p.Glu585Lys Multiple submitters ⚠
- p.Gly481Ser Multiple submitters ⚠
- p.Gly558Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly579Ser Multiple submitters spinocerebellar ataxia 43 ⚠
- p.Gly635Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Gly636Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly653Glu Multiple submitters ⚠
- p.Gly721Arg Multiple submitters ⚠
- p.Gly90Val Multiple submitters Inborn genetic diseases ⚠
- p.His438Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile130Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile13Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile201Phe Multiple submitters ⚠
- p.Ile201Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile237Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile447Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile582Thr Multiple submitters ⚠
- p.Leu314Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu38Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu500Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu645Met Multiple submitters
- p.Lys137Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys159Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys472Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys745Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys745Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met273Thr Multiple submitters spinocerebellar ataxia 43 ⚠
- p.Met331Ile Multiple submitters ⚠
- p.Met622Val Multiple submitters Inborn genetic diseases ⚠
- p.Met73Val Multiple submitters ⚠
- p.Met741Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe375Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe733Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro16Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Pro296Gln Multiple submitters Inborn genetic diseases
- p.Pro563Ala Multiple submitters ⚠
- p.Pro714Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser520Thr Multiple submitters MME-related disorder ⚠
- p.Ser65Pro Multiple submitters MME-related autosomal dominant Charcot Marie Tooth disease type 2 ⚠
- p.Thr287Met Multiple submitters ⚠
- p.Thr304Ile Multiple submitters
- p.Thr644Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp24Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr238Ser Multiple submitters ⚠
- p.Tyr347Cys Multiple submitters hereditary breast ovarian cancer syndrome
- p.Tyr482Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr49Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr507Cys Multiple submitters MME-related autosomal dominant Charcot Marie Tooth disease type 2 ⚠
- p.Tyr52Cys Multiple submitters ⚠
- p.Val116Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Val428Met Multiple submitters ⚠
- p.Val581Asp Multiple submitters ⚠
- c.1094+4G>A Single submitter
- c.1094+5G>A Single submitter
- c.1189-3T>A Single submitter
- c.1317+2T>G Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.1318-3G>A Single submitter
- c.1417-3T>A Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.1497+4A>G Single submitter
- c.1497+5G>A Single submitter
- c.1497+5G>C Single submitter
- c.1498-3C>G Single submitter
- c.160+8A>G Single submitter
- c.1601+4C>T Single submitter
- c.1780+3A>G Single submitter
- c.196+2658T>C Single submitter Charcot-Marie-Tooth disease axonal type 2T
- c.2076+3A>G Single submitter
- c.2077-7T>G Single submitter
- c.2153+4C>T Single submitter
- c.2153+5G>A Single submitter
- c.439+5G>A Single submitter
- c.439+6T>G Single submitter
- c.721-3C>T Single submitter
- c.958-10T>C Single submitter
- c.958-10T>G Single submitter
- c.958-3C>G Single submitter
- c.-10-1G>T Single submitter
- c.-2T>C Single submitter
- p.Ala136Glu Single submitter ⚠
- p.Ala180Thr Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala348Pro Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Ala469Val Single submitter ⚠
- p.Ala567Asp Single submitter ⚠
- p.Ala612Thr Single submitter ⚠
- p.Ala661Thr Single submitter ⚠
- p.Ala691Thr Single submitter Inborn genetic diseases ⚠
- p.Ala727Val Single submitter ⚠
- p.Ala732Asp Single submitter ⚠
- p.Ala732Gly Single submitter ⚠
- p.Ala732Val Single submitter Inborn genetic diseases ⚠
- p.Ala75Gly Single submitter ⚠
- p.Arg223Gln Single submitter Inborn genetic diseases ⚠
- p.Arg229Ser Single submitter ⚠
- p.Arg257Ser Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg374Lys Single submitter ⚠
- p.Arg395Leu Single submitter Inborn genetic diseases ⚠
- p.Arg410Cys Single submitter
- p.Arg410Leu Single submitter ⚠
- p.Arg718Lys Single submitter ⚠
- p.Arg736His Single submitter Inborn genetic diseases ⚠
- p.Arg94His Single submitter ⚠
- p.Asn106Lys Single submitter ⚠
- p.Asn192Ser Single submitter Inborn genetic diseases ⚠
- p.Asn267Tyr Single submitter ⚠
- p.Asn317Asp Single submitter ⚠
- p.Asn392Ser Single submitter ⚠
- p.Asn416Ser Single submitter Inborn genetic diseases ⚠
- p.Asn491Asp Single submitter Inborn genetic diseases ⚠
- p.Asp112Glu Single submitter ⚠
- p.Asp120Gly Single submitter Inborn genetic diseases ⚠
- p.Asp295Asn Single submitter Inborn genetic diseases ⚠
- p.Asp295Val Single submitter Inborn genetic diseases ⚠
- p.Asp462Ala Single submitter ⚠
- p.Asp484His Single submitter ⚠
- p.Asp505Glu Single submitter ⚠
- p.Asp531= Single submitter
- p.Asp533Gly Single submitter ⚠
- p.Asp591His Single submitter Inborn genetic diseases ⚠
- p.Asp600Gly Single submitter Inborn genetic diseases ⚠
- p.Asp679Tyr Single submitter ⚠
- p.Asp82Val Single submitter ⚠
- p.Asp9Asn Single submitter ⚠
- p.Asp9Gly Single submitter ⚠
- p.Cys411del Single submitter
- p.Cys62Arg Single submitter ⚠
- p.Cys695Tyr Single submitter ⚠
- p.Cys80Ser Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Gln307Arg Single submitter ⚠
- p.Gln519His Single submitter
- p.Gln568Lys Single submitter ⚠
- p.Gln569Leu Single submitter ⚠
- p.Gln610dup Single submitter
- p.Gln684Glu Single submitter ⚠
- p.Gln692Arg Single submitter ⚠
- p.Gln724His Single submitter Inborn genetic diseases ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu260Ala Single submitter ⚠
- p.Glu260Gly Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu435Asp Single submitter ⚠
- p.Glu449Gln Single submitter Inborn genetic diseases ⚠
- p.Glu464Lys Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Glu617Lys Single submitter ⚠
- p.Glu671Lys Single submitter ⚠
- p.Glu672Gly Single submitter ⚠
- p.Glu701Gly Single submitter Inborn genetic diseases ⚠
- p.Glu731Asp Single submitter Inborn genetic diseases ⚠
- p.Gly166Glu Single submitter Inborn genetic diseases ⚠
- p.Gly166Val Single submitter Inborn genetic diseases ⚠
- p.Gly400Ala Single submitter ⚠
- p.Gly417Arg Single submitter Inborn genetic diseases
- p.Gly417Glu Single submitter MME-related disorder ⚠
- p.Gly434Arg Single submitter
- p.Gly577Val Single submitter ⚠
- p.Gly641Arg Single submitter ⚠
- p.Gly654Ala Single submitter ⚠
- p.Gly656Asp Single submitter
- p.Gly670Asp Single submitter ⚠
- p.Gly677Glu Single submitter ⚠
- p.Gly696Glu Single submitter ⚠
- p.Gly715Ser Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His638= Single submitter
- p.His638Arg Single submitter ⚠
- p.Ile130Met Single submitter ⚠
- p.Ile149Thr Single submitter ⚠
- p.Ile283Met Single submitter ⚠
- p.Ile283Val Single submitter Inborn genetic diseases ⚠
- p.Ile316Asn Single submitter Inborn genetic diseases ⚠
- p.Ile444Thr Single submitter Inborn genetic diseases ⚠
- p.Ile486Thr Single submitter ⚠
- p.Ile512Asn Single submitter ⚠
- p.Ile512Leu Single submitter ⚠
- p.Ile559Val Single submitter Inborn genetic diseases ⚠
- p.Ile63Leu Single submitter Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Ile649Leu Single submitter ⚠
- p.Ile666Thr Single submitter ⚠
- p.Ile707Val Single submitter ⚠
- p.Ile719Phe Single submitter ⚠
- p.Ile719Val Single submitter Inborn genetic diseases ⚠
- p.Leu158Phe Single submitter Inborn genetic diseases ⚠
- p.Leu191Arg Single submitter ⚠
- p.Leu314Val Single submitter Inborn genetic diseases ⚠
- p.Leu355His Single submitter ⚠
- p.Leu370Val Single submitter ⚠
- p.Leu383Arg Single submitter ⚠
- p.Leu398His Single submitter Inborn genetic diseases ⚠
- p.Leu498Val Single submitter Inborn genetic diseases ⚠
- p.Leu500Phe Single submitter
- p.Leu515Phe Single submitter Inborn genetic diseases ⚠
- p.Leu603Ile Single submitter ⚠
- p.Leu639Phe Single submitter ⚠
- p.Leu92Trp Single submitter Inborn genetic diseases ⚠
- p.Lys126Asn Single submitter ⚠
- p.Lys159Gln Single submitter Inborn genetic diseases ⚠
- p.Lys186Asn Single submitter Inborn genetic diseases ⚠
- p.Lys197Glu Single submitter Inborn genetic diseases
- p.Lys19Arg Single submitter ⚠
- p.Lys19Glu Single submitter Inborn genetic diseases ⚠
- p.Lys354Arg Single submitter Inborn genetic diseases ⚠
- p.Lys396= Single submitter
- p.Lys437Arg Single submitter Inborn genetic diseases ⚠
- p.Lys525Thr Single submitter Charcot-Marie-Tooth disease axonal type 2T ⚠
- p.Lys746Arg Single submitter ⚠
- p.Lys746fs Single submitter
- p.Met249Ile Single submitter Inborn genetic diseases ⚠
- p.Met273Val Single submitter ⚠
- p.Met303Val Single submitter ⚠
- p.Met331Thr Single submitter Inborn genetic diseases ⚠
- p.Met419Thr Single submitter ⚠
- p.Met419Val Single submitter ⚠
- p.Met45Thr Single submitter
- p.Met622Ile Single submitter
- p.Met741Thr Single submitter ⚠
- p.Met8Arg Single submitter
- p.Phe107Leu Single submitter Inborn genetic diseases ⚠
- p.Phe312Ile Single submitter
- p.Phe326Ile Single submitter Inborn genetic diseases ⚠
- p.Phe545Leu Single submitter ⚠
- p.Phe687Ile Single submitter ⚠
- p.Pro125Ser Single submitter ⚠
- p.Pro16Ser Single submitter Inborn genetic diseases ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro227Leu Single submitter
- p.Pro562Ser Single submitter Inborn genetic diseases ⚠
- p.Pro714Ser Single submitter ⚠
- p.Pro743Arg Single submitter ⚠
- p.Ser142Phe Single submitter ⚠
- p.Ser228Cys Single submitter ⚠
- p.Ser32Leu Single submitter ⚠
- p.Ser337Asn Single submitter ⚠
- p.Ser390Thr Single submitter ⚠
- p.Ser537Arg Single submitter ⚠
- p.Ser630Phe Single submitter ⚠
- p.Ser730Ter Single submitter
- p.Thr100Ile Single submitter Inborn genetic diseases ⚠
- p.Thr183Arg Single submitter ⚠
- p.Thr287Ala Single submitter Inborn genetic diseases ⚠
- p.Thr333Ala Single submitter Inborn genetic diseases ⚠
- p.Thr339Ala Single submitter ⚠
- p.Thr339Ile Single submitter ⚠
- p.Thr353Ala Single submitter ⚠