Sugi Variant

Sugi Variant/DNM2

DNM2 — 1296 ClinVar variants

All ClinVar germline DNM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 491 flagged for review →

12 Pathogenic · 4 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 81 Conflicting · 47 Benign · 41 Benign/Likely benign · 525 Likely benign · 572 Uncertain significance

Full DNM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 491

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 33

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

Predicted LoF vs a conflicting call 1

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

Predictors lean, ClinVar uncertain 342

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 342

Predictors split 115

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

All DNM2 variants

Pathogenic 12

Pathogenic/Likely pathogenic 4

  • p.Gly358Arg Multiple submitters DNM2-related disorders
  • p.Gly537Ser Multiple submitters Inborn genetic diseases
  • p.Leu621Pro Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Pro627Arg Multiple submitters autosomal dominant centronuclear myopathy

Likely pathogenic 14

  • p.Arg522Cys Expert panel centronuclear myopathy
  • p.Arg523Gly Expert panel centronuclear myopathy
  • p.Asp614Asn Expert panel centronuclear myopathy
  • p.Glu560Lys Expert panel centronuclear myopathy
  • p.Glu650Lys Expert panel centronuclear myopathy
  • p.Ser357Phe Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr488Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg522Leu Single submitter
  • p.Arg594Lys Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Glu341Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Lys617Thr Single submitter fetal akinesia-cerebral and retinal hemorrhage syndrome
  • p.Val375Glu Single submitter centronuclear myopathy
  • p.Ile735Thr No assertion criteria Moyamoya angiopathy
  • p.Lys414Arg No assertion criteria Charcot-Marie-Tooth disease

Conflicting classifications of pathogenicity 81

  • c.1196+658C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+677G>A Single submitter Inborn genetic diseases ⚠
  • c.1196+710G>A Single submitter Inborn genetic diseases ⚠
  • c.1423-9C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1546-18A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-5C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-9C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+1G>A Single submitter autosomal dominant centronuclear myopathy ⚠
  • c.2292-7C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+10G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+12C>A Single submitter centronuclear myopathy
  • c.849+7C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.850-7C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala511= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala638Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala732Val Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala760Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala806= Single submitter Inborn genetic diseases
  • p.Ala854Val Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Arg166Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg249His Single submitter Inborn genetic diseases ⚠
  • p.Arg297Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg297His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg364Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg369Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg453Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg458= Single submitter autosomal dominant centronuclear myopathy
  • p.Arg467Gln Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Arg769His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg770Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn50Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn658Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp106Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp211= Single submitter Inborn genetic diseases
  • p.Asp215= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp320Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp636Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Gln72= Single submitter Inborn genetic diseases
  • p.Glu604Lys Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Gly233= Single submitter Inborn genetic diseases
  • p.Gly841= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.His692Tyr Single submitter Inborn genetic diseases ⚠
  • p.His727Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile486Val Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ile518Leu Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Ile70= Single submitter Inborn genetic diseases
  • p.Leu209= Single submitter autosomal dominant centronuclear myopathy
  • p.Leu260Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu48= Single submitter Inborn genetic diseases
  • p.Leu757Ile Single submitter Inborn genetic diseases ⚠
  • p.Leu757Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys315Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys559Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys562del Single submitter DNM2-related disorders
  • p.Lys677= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Met179Val Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro226Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro771Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser549Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser609= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser702= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser702Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ser759Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ser822Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr274= Single submitter Inborn genetic diseases
  • p.Thr280Met Single submitter Inborn genetic diseases ⚠
  • p.Thr462Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr655= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr755Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr788Ile Single submitter Inborn genetic diseases ⚠
  • p.Tyr726His Single submitter Inborn genetic diseases
  • p.Val625Ile Single submitter Inborn genetic diseases ⚠
  • p.Val64Ile Single submitter Inborn genetic diseases ⚠
  • p.Val664Met Single submitter Inborn genetic diseases ⚠
  • p.Val744Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Val818Met Single submitter Inborn genetic diseases ⚠
  • p.Gly537Cys No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2M ⚠
  • p.Leu570His No assertion criteria autosomal dominant Charcot-Marie-Tooth disease type 2M ⚠
  • p.Lys562Glu No assertion criteria Charcot-Marie-Tooth disease, dominant intermediate B, with neutropenia ⚠
  • p.Phe379Val No assertion criteria fetal akinesia-cerebral and retinal hemorrhage syndrome

Benign 47

  • c.162-6del Expert panel centronuclear myopathy
  • p.Asn3Ser Expert panel centronuclear myopathy
  • p.Asp215Asn Expert panel centronuclear myopathy
  • p.Asp218= Expert panel centronuclear myopathy
  • p.Pro828= Expert panel centronuclear myopathy
  • p.Ser805Leu Expert panel centronuclear myopathy
  • c.1196+773C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1197-62G>C Multiple submitters
  • c.1494-43C>G Multiple submitters
  • c.1545+41C>T Multiple submitters
  • c.1558-7C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.161+228C>G Multiple submitters
  • c.162-7C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-11C>T Multiple submitters autosomal dominant centronuclear myopathy
  • c.1893+248T>C Multiple submitters
  • c.1894-181G>A Multiple submitters
  • c.2058+89G>A Multiple submitters
  • c.2292-85A>G Multiple submitters
  • c.236-29C>G Multiple submitters fetal akinesia-cerebral and retinal hemorrhage syndrome
  • c.590-168T>C Multiple submitters
  • c.*268A>T Multiple submitters autosomal dominant centronuclear myopathy
  • p.Gly359= Multiple submitters autosomal dominant centronuclear myopathy
  • p.Pro263Leu Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • c.1128+12dup Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+158G>C Single submitter
  • c.1128+169T>C Single submitter
  • c.1129-40C>T Single submitter
  • c.1196+12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1493+12T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-7dup Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+31_1893+32insC Single submitter
  • c.2058+262A>G Single submitter
  • c.2059-20T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+240dup Single submitter
  • c.386-173G>T Single submitter
  • c.386-6T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.992+231G>A Single submitter
  • c.*22C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*321A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*35C>G Single submitter autosomal dominant centronuclear myopathy
  • c.*385C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*386G>C Single submitter autosomal dominant centronuclear myopathy
  • c.*453C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*601C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*607G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*671T>C Single submitter autosomal dominant centronuclear myopathy
  • p.Leu181= Single submitter Charcot-Marie-Tooth disease dominant intermediate B

Benign/Likely benign 41

  • c.1196+643C>T Multiple submitters Inborn genetic diseases
  • c.1196+711A>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-12G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+14C>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-7C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+14G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1672-19_1672-16del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+17C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-5C>T Multiple submitters Inborn genetic diseases
  • c.1782-5del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-5dup Multiple submitters Inborn genetic diseases
  • c.2059-5C>T Multiple submitters Inborn genetic diseases
  • c.235+6A>G Multiple submitters autosomal dominant centronuclear myopathy
  • c.236-8C>G Multiple submitters autosomal dominant centronuclear myopathy
  • c.2543+7C>G Multiple submitters fetal akinesia-cerebral and retinal hemorrhage syndrome
  • c.386-6T>A Multiple submitters Inborn genetic diseases
  • c.589+17G>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.590-31CCTCTGA[3] Multiple submitters
  • c.*10G>A Multiple submitters autosomal dominant centronuclear myopathy
  • c.*14C>T Multiple submitters autosomal dominant centronuclear myopathy
  • c.*47G>A Multiple submitters autosomal dominant centronuclear myopathy
  • p.Ala173= Multiple submitters Inborn genetic diseases
  • p.Arg837= Multiple submitters Inborn genetic diseases
  • p.Asn222= Multiple submitters Inborn genetic diseases
  • p.Asn634= Multiple submitters Inborn genetic diseases
  • p.Asn734Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp185= Multiple submitters Inborn genetic diseases
  • p.Asp406= Multiple submitters
  • p.Asp612= Multiple submitters Inborn genetic diseases
  • p.Asp720= Multiple submitters Inborn genetic diseases
  • p.His80Tyr Multiple submitters Inborn genetic diseases
  • p.Ile160= Multiple submitters Inborn genetic diseases
  • p.Ile459= Multiple submitters autosomal dominant centronuclear myopathy
  • p.Lys577= Multiple submitters Inborn genetic diseases
  • p.Pro150= Multiple submitters Inborn genetic diseases
  • p.Pro176= Multiple submitters Inborn genetic diseases
  • p.Pro263= Multiple submitters Inborn genetic diseases
  • p.Pro294= Multiple submitters Inborn genetic diseases
  • p.Pro771= Multiple submitters Inborn genetic diseases
  • p.Ser856Asn Multiple submitters Inborn genetic diseases
  • p.Val613Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B

Likely benign 525

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

  • c.1128+13G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+11C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+18A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+628G>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+709C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+778G>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1197-940A>G Multiple submitters
  • c.1336-82C>T Multiple submitters
  • c.1422+9C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-13C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-4C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+11C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1546-16C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1546-73C>T Multiple submitters
  • c.1557+193G>A Multiple submitters
  • c.1557+9A>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-213G>C Multiple submitters
  • c.161+122C>A Multiple submitters
  • c.161+248G>C Multiple submitters
  • c.162-16T>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-8C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-9C>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-4G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-4G>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-7C>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+10C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+17C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+18G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-9C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.2059-4G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-15T>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+12C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-19G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+60A>G Multiple submitters
  • c.849+9A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.992+11C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.993-14C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.993-5C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala216= Multiple submitters Inborn genetic diseases
  • p.Ala250= Multiple submitters autosomal dominant centronuclear myopathy
  • p.Ala854= Multiple submitters Inborn genetic diseases
  • p.Arg59= Multiple submitters Inborn genetic diseases
  • p.Arg672= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp30= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp380= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp480= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp555= Multiple submitters Inborn genetic diseases
  • p.Gln483= Multiple submitters Inborn genetic diseases
  • p.Gln717= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Gln99= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Glu104= Multiple submitters Inborn genetic diseases
  • p.Gly213Cys Multiple submitters Inborn genetic diseases
  • p.Gly24= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Gly624= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.His367= Multiple submitters Inborn genetic diseases
  • p.His693= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ile344= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ile479= Multiple submitters Inborn genetic diseases
  • p.Ile528= Multiple submitters Inborn genetic diseases
  • p.Ile572= Multiple submitters Inborn genetic diseases
  • p.Ile838= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Leu134= Multiple submitters Inborn genetic diseases
  • p.Leu277= Multiple submitters Inborn genetic diseases
  • p.Leu305= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Leu506= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Leu526= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Lys157= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Lys382= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Lys89= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Phe370= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Phe586= Multiple submitters Inborn genetic diseases
  • p.Pro226= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Pro319= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Pro405= Multiple submitters
  • p.Pro765= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Pro797= Multiple submitters Inborn genetic diseases
  • p.Pro863= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser184= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser347= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser357= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser61= Multiple submitters Inborn genetic diseases
  • p.Ser805= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr105= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr214= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr286= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr471= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr591= Multiple submitters Inborn genetic diseases
  • p.Tyr663= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Val613= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Val752= Multiple submitters Inborn genetic diseases
  • c.1128+10C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+10C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+11_1128+12del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+12C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+12C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+13_1128+14insA Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+15G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+16G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1128+241A>G Single submitter
  • c.1128+7C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1129-13T>C Single submitter
  • c.1129-6T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+13A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+158A>C Single submitter
  • c.1196+603C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+606G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+613C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+615G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+625C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+628G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+634C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+640G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+646G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+652C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+655G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+661T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+670G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+676C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+676C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+698C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+700G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+703A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+706T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+715G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+730A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+751T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+754C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+770C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+771C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+774G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+775G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+775G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+7del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1197-242G>T Single submitter
  • c.1335+18del Single submitter
  • c.1335+324C>G Single submitter
  • c.1336-10G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-196C>G Single submitter
  • c.1336-19A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-20C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-258TGCCTCC[3] Single submitter
  • c.1336-5C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1422+17T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1422+8_1422+14del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-11C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-18A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-8T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1493+11T>G Single submitter
  • c.1493+14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1493+16G>A Single submitter
  • c.1493+18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1493+252C>G Single submitter
  • c.1493+7A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-14T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-15G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-16_1494-13del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-18T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-19G>T Single submitter
  • c.1494-20T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-6T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+17C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+17C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+18del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+20T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+7C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1545+9C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1546-4A>C Single submitter Inborn genetic diseases
  • c.1557+10_1557+15dup Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1557+20G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1557+63C>T Single submitter
  • c.1558-11C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-15C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-16G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-16G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-5C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1558-9T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.161+11G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.161+14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.161+7G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-12C>T Single submitter
  • c.162-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-15C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-7C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-8C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-8C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.162-9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+16G>A Single submitter
  • c.1671+16G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+18G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+23del Single submitter
  • c.1671+283G>A Single submitter
  • c.1671+325G>T Single submitter
  • c.1672-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1672-16_1672-15del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1672-16T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1672-337G>A Single submitter
  • c.1781+10C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+12A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+12del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+13G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+16G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+19T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+71CACTGAG[3] Single submitter
  • c.1781+7G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-10C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-11C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-16C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-5C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-6C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-7C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-7C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+10C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+11G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+14C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+19C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+19C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1893+9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-11C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-12T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-13_1894-12insA Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-15C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1894-8G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2058+20T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2058+292A>C Single submitter
  • c.2059-136G>C Single submitter
  • c.2059-13C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2059-19C>A Single submitter
  • c.2059-8G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2291+153G>A Single submitter
  • c.2291+16T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2291+19C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2291+4C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-12C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-16C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-18C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-7C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+12C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+13G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+13G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+9G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.236-10C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.236-18T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.236-19A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.236-20C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+140G>T Single submitter
  • c.2543+17G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+20C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+8C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-12T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-15T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-17C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-20T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-235C>T Single submitter
  • c.2544-7T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+11C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+13G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+14G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.386-9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+10A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+12C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+132T>C Single submitter
  • c.589+139T>C Single submitter
  • c.589+13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+159C>T Single submitter
  • c.589+17G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+19C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.589+274C>G Single submitter
  • c.589+274C>T Single submitter
  • c.589+86G>A Single submitter
  • c.589+8T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.590-14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+11G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+12G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+12G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+14G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+15del Single submitter
  • c.688+17G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.688+7C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.689-103C>T Single submitter
  • c.689-12C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.689-19T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.689-19T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.689-8C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.849+19C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.849+20G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B

Uncertain significance 572

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

  • c.1128+5T>G Multiple submitters Inborn genetic diseases
  • c.1196+670G>C Multiple submitters Inborn genetic diseases ⚠
  • c.1196+680A>G Multiple submitters Inborn genetic diseases ⚠
  • c.1196+698C>A Multiple submitters Inborn genetic diseases ⚠
  • c.1196+704T>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+740G>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+745G>T Multiple submitters Charcot-Marie-Tooth disease ⚠
  • c.1196+747A>G Multiple submitters Inborn genetic diseases
  • c.2291+5G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-8C>A Multiple submitters autosomal dominant centronuclear myopathy
  • c.2543+1G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala216Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala253Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala328Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala511Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala606Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala618Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala665Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala689Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala703Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala716Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala800Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala806Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala827Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala854Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg166Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg199Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg266Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg271His Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • p.Arg290Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg290Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg318Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg324His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg364Cys Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • p.Arg364His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg386Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg451Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg451Trp Multiple submitters Inborn genetic diseases
  • p.Arg458Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg458Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg467Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg4Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg573Cys Multiple submitters DNM2-related disorder ⚠
  • p.Arg573His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg59Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg657Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg657His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg672Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg718Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg718Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg719Trp Multiple submitters DNM2-related disorder ⚠
  • p.Arg769Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg812Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg812Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg862His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg98Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn112Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn498Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asn686Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn821Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp106Tyr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp147Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp270Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp321Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp383Tyr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asp473Val Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • p.Asp574Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp673Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp721Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Gln278His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Gln335Leu Multiple submitters ⚠
  • p.Glu212Asp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Glu212Lys Multiple submitters ⚠
  • p.Glu312Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Glu457Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Glu635Lys Multiple submitters Hereditary neuropathy or pain disorder ⚠
  • p.Glu865Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly2Asp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.His267Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His28Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.His727Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His776Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ile115Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ile232Thr Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • p.Ile248Met Multiple submitters Inborn genetic diseases
  • p.Ile248Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile603Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile656Phe Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ile679Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu189Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu260Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu285Val Multiple submitters autosomal dominant centronuclear myopathy ⚠
  • p.Leu452Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu476Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu600Pro Multiple submitters fetal akinesia-cerebral and retinal hemorrhage syndrome ⚠
  • p.Leu729Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu733Phe Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Leu793Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu869Pro Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys157Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys571Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys583Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Lys89Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Met268Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met725Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Phe317Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Phe372Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Phe804Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro11Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro226Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro513Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro676Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro749His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro750Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro750Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro777Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro787Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro789Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro791Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro791Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro797Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Pro813Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ser261Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ser26Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ser448Tyr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ser532Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr109Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr111Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr274Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr504Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr591Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Thr746Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr859_Ile860del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Thr859del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Val118Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B
  • p.Val143Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Val193Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Val234Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Val351Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val460Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val520Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Val585Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val596Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1128+6G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+4A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+613C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+619C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+626G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+643del Single submitter
  • c.1196+647G>T Single submitter autosomal dominant centronuclear myopathy ⚠
  • c.1196+653G>A Single submitter ⚠
  • c.1196+660T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+669A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+681A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+681A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+686A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+701A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1196+707G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+708T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+719A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+723A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+729T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+735A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • c.1196+761G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-3C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1336-5C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1422+6G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1423-1G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1493+5G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1494-3_1671+2dup Single submitter
  • c.1545+4G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1557+1G>C Single submitter Possible mitochondrial disorder - nuclear genes
  • c.1664_1671+1del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+3G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1671+3G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+6G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1781+6G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.1782-3_1893+2dup Single submitter
  • c.1885_1893+8del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2058+3G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2291+3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2292-3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+3A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.235+4A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+5G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2543+6G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-3_2544-1del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.2544-5T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.385+6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.386-5C>G Single submitter
  • c.589+5C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.689-3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.992+3A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.992+4T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.992+4T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.-122G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.-19G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*106T>C Single submitter autosomal dominant centronuclear myopathy
  • c.*166G>A Single submitter autosomal dominant centronuclear myopathy
  • c.*185A>C Single submitter autosomal dominant centronuclear myopathy
  • c.*214C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*373G>A Single submitter autosomal dominant centronuclear myopathy
  • c.*379C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*391C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*550G>A Single submitter autosomal dominant centronuclear myopathy
  • c.*711T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*716C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*751T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • c.*79G>A Single submitter autosomal dominant centronuclear myopathy
  • c.*82C>T Single submitter autosomal dominant centronuclear myopathy
  • c.*88C>G Single submitter autosomal dominant centronuclear myopathy
  • p.Ala177Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala186Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala253Ser Single submitter ⚠
  • p.Ala269Val Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala35Val Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala360Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala408Val Single submitter
  • p.Ala411Gly Single submitter autosomal dominant centronuclear myopathy
  • p.Ala42= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Ala587Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala632Val Single submitter ⚠
  • p.Ala697Val Single submitter ⚠
  • p.Ala716Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala728Val Single submitter
  • p.Ala732Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala800Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala820Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Ala853Val Single submitter ⚠
  • p.Ala864fs Single submitter
  • p.Ala864Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg107Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg123Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg228Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg256Met Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg266Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg271Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg271Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg290Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg297Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg318Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg364Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg385Gly Single submitter ⚠
  • p.Arg385Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg451fs Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg451Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg465Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg467Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg510Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg54= Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg54Gln Single submitter autosomal dominant centronuclear myopathy ⚠
  • p.Arg54Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg601Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg651Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg66fs Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg66Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg66Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg67Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg719Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg724Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg724His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg724Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg770Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg780Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Arg849Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg862Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg862Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Arg98Trp Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn121His Single submitter Inborn genetic diseases ⚠
  • p.Asn14Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn178Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn222Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn287Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn363Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn498Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn507Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asn529Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn530Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn530del Single submitter Charcot-Marie-Tooth disease dominant intermediate B
  • p.Asn569His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn686Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn734Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asn734Ile Single submitter ⚠
  • p.Asn821Ile Single submitter Inborn genetic diseases ⚠
  • p.Asp147His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp151Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp18Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp215Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp247His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp320Glu Single submitter DNM2-related disorder
  • p.Asp339Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp480His Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp555Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp555His Single submitter ⚠
  • p.Asp599Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp636Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate B ⚠
  • p.Asp636His Single submitter Charcot-Marie-Tooth disease dominant intermediate B