Sugi Variant

Sugi Variant/PLEKHG5

PLEKHG5 — 1450 ClinVar variants

All ClinVar germline PLEKHG5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 471 flagged for review →

49 Pathogenic · 11 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 61 Conflicting · 75 Benign · 25 Benign/Likely benign · 620 Likely benign · 580 Uncertain significance

Full PLEKHG5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 471

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 356

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 356

Predictors split 99

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

All PLEKHG5 variants

Pathogenic 49

  • p.Arg930Ter Multiple submitters Inborn genetic diseases
  • p.Lys982fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.1281+1del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala466fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ala577fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala889fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg20fs Single submitter spinal muscular atrophy, facioscapulohumeral type
  • p.Asp420fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Cys376Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln14fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gln334fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln473Ter Single submitter juvenile amyotrophic lateral sclerosis
  • p.Gln486fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln688Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln692fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln711fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gln748Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu307Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu580fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu716Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu717fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu720Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu721fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu725Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly152fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gly660fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.His485fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu122fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu129fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Leu383fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu538fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Lys597fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Lys62fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Lys63Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Lys877Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Met480fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Met593fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Phe830fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Pro824fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro847fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro961fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser298fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser744fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr260fs Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr121Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr303Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr351Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Tyr438Ter Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr548Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4

Pathogenic/Likely pathogenic 11

  • c.1132-2A>C Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.985-2A>G Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg848Ter Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gln685Ter Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu443Ter Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu580Ter Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu717Ter Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu757Ter Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Leu789fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ser430Ter Multiple submitters PLEKHG5-related disorder
  • p.Val968fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C

Likely pathogenic 29

  • c.1080+1G>A Single submitter
  • c.1131+1G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-1G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1393-2A>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+1G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1680+1G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1800+1G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-2A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1933+1del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1934-2A>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+1G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2250-2A>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.302+1dup Single submitter PLEKHG5-related disorder
  • c.302+1G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala510fs Single submitter PLEKHG5-related disorder
  • p.Ala658fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln783Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly200fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Lys8fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro630His Single submitter juvenile amyotrophic lateral sclerosis
  • p.Pro835fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser241fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser962Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr222fs Single submitter PLEKHG5-related disorder
  • p.Thr615fs Single submitter
  • p.Thr69fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Trp299Ter Single submitter
  • p.Met480Leu No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Pro258Leu No assertion criteria hereditary spastic paraplegia ⚠

Conflicting classifications of pathogenicity 61

  • c.1131+19G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-10C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-16C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-5C>T Single submitter Inborn genetic diseases
  • c.1543-2A>G Single submitter Inborn genetic diseases
  • c.1543-5C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-8G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.439+12C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.440-11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-2A>G Single submitter Inborn genetic diseases
  • c.795+13A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.796-4C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-120C>T Single submitter peripheral neuropathy
  • c.-42_-38del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala262Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala340Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala793fs Single submitter Inborn genetic diseases
  • p.Ala897= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg332Trp Single submitter Inborn genetic diseases
  • p.Arg333= Single submitter Inborn genetic diseases
  • p.Arg625Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg628Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg811= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg811Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg848Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg859= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg930Gln Single submitter Inborn genetic diseases ⚠
  • p.Asp240Gly Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Asp306= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Asp457= Single submitter Inborn genetic diseases
  • p.Asp569= Single submitter Inborn genetic diseases
  • p.Asp809= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Asp829Tyr Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Gln917= Single submitter Inborn genetic diseases
  • p.Glu43_Ser44insGlu Single submitter Inborn genetic diseases
  • p.Glu43del Single submitter Inborn genetic diseases
  • p.Glu718_Glu723del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu719_Glu723del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu720= Single submitter Inborn genetic diseases
  • p.Glu723_Gly724insGlu Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu723_Gly724insGluGluGluGlu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly178Arg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Gly820Ser Single submitter Inborn genetic diseases
  • p.Gly940Arg Single submitter Inborn genetic diseases ⚠
  • p.His524= Single submitter Inborn genetic diseases
  • p.Lys955Arg Single submitter Inborn genetic diseases ⚠
  • p.Phe294= Single submitter Inborn genetic diseases
  • p.Pro170Leu Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Pro575Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Pro644= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro870= Single submitter Inborn genetic diseases
  • p.Ser251= Single submitter Inborn genetic diseases
  • p.Ser878= Single submitter Inborn genetic diseases
  • p.Ser934= Single submitter Inborn genetic diseases
  • p.Thr412= Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Thr984= Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr819= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Val103Met Single submitter Hereditary neuropathy or pain disorder
  • p.Val22Met Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Val942= Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Phe647Ser No assertion criteria hereditary motor neuron disease ⚠

Benign 75

  • c.1081-98G>A Multiple submitters
  • c.1282-111T>C Multiple submitters
  • c.1282-193C>T Multiple submitters
  • c.1393-22dup Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.1681-20T>C Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-12C>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-71G>A Multiple submitters
  • c.1801-87C>G Multiple submitters
  • c.211-44C>T Multiple submitters
  • c.3012-113G>A Multiple submitters
  • c.302+10_302+11delinsTT Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.302+176T>C Multiple submitters
  • c.302+59T>C Multiple submitters
  • c.303-134C>T Multiple submitters
  • c.43+13G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+52G>A Multiple submitters
  • c.591+69C>G Multiple submitters
  • c.591+71G>A Multiple submitters
  • c.592-51G>A Multiple submitters
  • c.795+8G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-164-664C>T Multiple submitters
  • c.-267G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-28234G>A Multiple submitters
  • c.-313C>G Multiple submitters
  • c.-54+10T>G Multiple submitters
  • c.-88+1192G>A Multiple submitters
  • c.-88+5779C>G Multiple submitters
  • c.-88+5858G>A Multiple submitters
  • c.-88+5868C>G Multiple submitters
  • c.-88+5G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-88+6307T>A Multiple submitters
  • c.*1158G>C Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1304G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1440C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*27T>C Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*290T>C Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*697C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*843G>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*990C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg859His Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln865Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu721= Multiple submitters Inborn genetic diseases
  • p.Glu722_Glu723del Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu722fs Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gly810Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly943Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ile87Thr Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu393= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Met440Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser667= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ser777= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr238Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-8dup Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+28C>A Single submitter
  • c.1800+107C>T Single submitter
  • c.1801-15del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-15dup Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1934-16G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.210+14dup Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.302+10G>T Single submitter
  • c.302+16del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+15del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+28G>C Single submitter
  • c.-164-9453G>C Single submitter
  • c.-5995G>A Single submitter
  • c.-6014G>C Single submitter
  • c.-88+1153_-88+1160del Single submitter
  • c.-88+5658_-88+5659dup Single submitter
  • c.-88+5659del Single submitter
  • c.-88+5659dup Single submitter
  • c.-88+6634G>T Single submitter
  • c.*1052G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1313C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*63C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*765T>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4

Benign/Likely benign 25

  • c.2250-13C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.43+20G>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-10C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-6A>G Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-14C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-88+6188G>A Multiple submitters
  • c.-88+6328C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*108G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala414Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg30Cys Multiple submitters Inborn genetic diseases
  • p.Arg861Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Asp10= Multiple submitters Inborn genetic diseases
  • p.Asp310Asn Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu271= Multiple submitters Inborn genetic diseases
  • p.Glu723del Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly231Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly257= Multiple submitters Inborn genetic diseases
  • p.Leu632= Multiple submitters Inborn genetic diseases
  • p.Lys165= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Phe606= Multiple submitters Inborn genetic diseases
  • p.Pro170= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Pro29= Multiple submitters Inborn genetic diseases
  • p.Pro418= Multiple submitters Inborn genetic diseases
  • p.Pro773= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr769= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4

Likely benign 620

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

  • c.1081-12C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1081-19C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+10_1392+24del Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+40G>C Multiple submitters
  • c.150-11C>A Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.150-13C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-21A>G Multiple submitters
  • c.1681-27_1681-3dup Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.1681-9C>T Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-16C>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+18C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2049+9A>G Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.210+16G>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.210+20C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-20C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-76A>G Multiple submitters
  • c.3011+9C>T Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.3012-79C>T Multiple submitters
  • c.302+144G>A Multiple submitters
  • c.44-13G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-17G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.984+13C>G Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.984+7G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-88+200G>A Multiple submitters
  • c.-88+6287G>A Multiple submitters
  • c.-88+6354A>C Multiple submitters
  • c.*12C>T Multiple submitters
  • p.Ala213= Multiple submitters Inborn genetic diseases
  • p.Ala34= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ala340= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala461= Multiple submitters Inborn genetic diseases
  • p.Ala510= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg532= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg690= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Asp4= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Asp420= Multiple submitters Inborn genetic diseases
  • p.Cys638= Multiple submitters Inborn genetic diseases
  • p.Glu158= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu549= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu708= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu720_Glu721insAspGluGlnGluGluGluGluGluGluGluGluGlu Multiple submitters Inborn genetic diseases
  • p.Glu722Lys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Gly5= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly893Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu431= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Leu538= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Leu570= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Leu689= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Lys508= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Lys62= Multiple submitters Inborn genetic diseases
  • p.Met161Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Phe138= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Phe384= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro180= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro216= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro28= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro745= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Pro920del Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ser207= Multiple submitters Inborn genetic diseases
  • p.Ser256= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser261= Multiple submitters Inborn genetic diseases
  • p.Ser742= Multiple submitters Inborn genetic diseases
  • p.Ser772= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ser846= Multiple submitters Inborn genetic diseases
  • p.Ser962= Multiple submitters Inborn genetic diseases
  • p.Thr177= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr756= Multiple submitters Inborn genetic diseases
  • p.Thr787= Multiple submitters Inborn genetic diseases
  • p.Tyr303= Multiple submitters Inborn genetic diseases
  • p.Val341= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Val525= Multiple submitters Inborn genetic diseases
  • p.Val542= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Val808= Multiple submitters Inborn genetic diseases
  • c.1080+11G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+12C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1080+131G>A Single submitter
  • c.1080+13T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+15C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+15C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+16G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1080+16G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+16G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1080+17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+18T>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1080+270T>C Single submitter
  • c.1081-11T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1081-12C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1081-20A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1081-8T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+10G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+10G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+14del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+15G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1131+15G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+18G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1131+19G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+20C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-11G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-15dup Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-18A>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-18A>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-20G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-3del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-6G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1132-7C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1132-8G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+14C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+19_1281+30del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+19G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+19G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+8C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1281+96C>A Single submitter
  • c.1281+9G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1282-18T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1282-19_1282-18insG Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1282-6G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1282-7G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1282-7G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+12C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1392+13G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1392+14_1392+34del Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1392+15G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+16C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1392+17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+20G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1392+9G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1393-11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-14C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1393-15A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-16C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-19C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-20C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-4G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1393-4G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-6C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1393-7A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-9C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1393-9C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.149+13T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.149+13T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.149+20G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.150-11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.150-12G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.150-15_150-13del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.150-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.150-19C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.150-8C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+10A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1542+16A>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+18C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+18C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1542+19G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+19G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+8T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+9G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-4C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-4C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1543-6C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1543-8G>A Single submitter
  • c.1680+13G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1680+17G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1680+18C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1680+18C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1680+19G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1680+7G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1680+7G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1680+7G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1681-15G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-17A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-4C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-5C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-6C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1681-8G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1681-9C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1800+10G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1800+16C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1800+19C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-10_1801-8del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-113A>C Single submitter
  • c.1801-14del Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-15C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-15C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-16C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-17C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-17C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-17C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-18C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1801-19C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1801-20C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+10C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1933+11C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+12T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1933+14G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+19C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+9C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1934-17G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1934-9C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2049+10G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2049+11A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2049+12G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2049+7G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2049+8C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2050-10T>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2050-11C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2050-12C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2050-14A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2050-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2050-17C>A Single submitter
  • c.2050-9T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.210+14C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.210+15A>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.210+79A>T Single submitter
  • c.210+9C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-16C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.211-17C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.211-22CCCACC[3] Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-23_211-14dup Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.211-4C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-5C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.211-5C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-7C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.211-93_211-57del Single submitter
  • c.2249+12C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+14T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+14T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+16A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+49T>C Single submitter
  • c.2249+7C>G Single submitter
  • c.2250-12C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2250-15C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2250-18C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2250-5C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2250-7C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2250-88T>C Single submitter
  • c.3011+11T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.3011+12G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+14A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+15C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+17G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+17G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+19G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+60C>A Single submitter
  • c.3012-10C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.3012-11C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-12C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-15C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-17C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-18C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-7C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.302+11dup Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.302+141C>T Single submitter
  • c.302+35C>T Single submitter
  • c.303-12T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.303-13G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.303-16C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.303-19C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.303-19C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.303-4G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.303-4G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.303-7G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.43+13G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.43+7A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.43+8_43+22del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.439+17G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.439+8G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.439+9C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.44-300C>T Single submitter
  • c.44-5C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.440-13C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-17G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-18C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.440-67G>A Single submitter
  • c.440-7_440-6inv Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.440-9C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.591+10dup Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+14G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.591+14G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+15G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+185C>G Single submitter
  • c.591+4AGG[4] Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+9G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+9G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.591+9G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.592-10C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.592-13C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-13C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-15C>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.592-185C>T Single submitter
  • c.592-20G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-4C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-64G>A Single submitter
  • c.592-6G>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.592-75C>A Single submitter
  • c.592-8C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4

Uncertain significance 580

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

  • c.1131+5G>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1282-7G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.2249+4C>T Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+3G>A Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • c.-99C>T Multiple submitters Inborn genetic diseases
  • c.*1186A>G Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*236G>A Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala1003Val Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala181Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala187Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala213Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala34Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala466Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala466Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala510Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala539Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala577Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala64Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala751Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala946Val Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala978Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala978Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg137Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg144Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg144His Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg173Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg173Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg173Trp Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg184Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg184His Multiple submitters ⚠
  • p.Arg190Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg190His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg191Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg191Trp Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg201Cys Multiple submitters Inborn genetic diseases
  • p.Arg201His Multiple submitters Inborn genetic diseases
  • p.Arg202His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg203Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg203His Multiple submitters Inborn genetic diseases
  • p.Arg20Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg20Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg245Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg25Gln Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg25Trp Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg265Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg293Cys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg321Trp Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg333Trp Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg356Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg382Pro Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg454Cys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg520Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg530Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg532Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg535Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg537Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg623Thr Multiple submitters Inborn genetic diseases
  • p.Arg642Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg673Cys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg690Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg739Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg811His Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg842Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg842Trp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg857Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg859Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg860Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg860His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg861His Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg900Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg930Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg956Lys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg967Met Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg990Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Asn456Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn526Asp Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Asp195Asn Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Asp240Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp295Val Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Asp306Gly Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Asp569Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp709Glu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Cys335Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Cys813Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln218His Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Gln533_Arg537del Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gln711Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu134Lys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Glu183Lys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Glu219Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu301_Glu307del Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu305Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu381Gly Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Glu389Val Multiple submitters Inborn genetic diseases ⚠
  • p.Glu42Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu43_Ser44insGluGlu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Glu503Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu504Lys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Glu580Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu581Lys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Glu595Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu717Lys Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Glu723_Gly724insGluGlu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Glu725Lys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Glu765Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Glu90Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly176Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly217Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Gly275Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly284Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly373Arg Multiple submitters Inborn genetic diseases
  • p.Gly373Glu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Gly419Glu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Gly424Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly48Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly50Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gly645Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly674Asp Multiple submitters ⚠
  • p.Gly724= Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Gly743Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly820Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.His141Arg Multiple submitters Inborn genetic diseases
  • p.His872Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile324Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile737Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ile91Phe Multiple submitters Inborn genetic diseases
  • p.Leu282His Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Leu361Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Leu422Phe Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Leu499Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu499Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Leu566Gln Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Leu689Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Leu905Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu907Pro Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Leu997Val Multiple submitters Inborn genetic diseases
  • p.Lys162Glu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Lys165Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Lys483Arg Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Lys490Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys490Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys98del Multiple submitters Inborn genetic diseases
  • p.Lys98Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met427Thr Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Met449Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met449Val Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Met738Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro12Ser Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro170Gln Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro289Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro28Leu Multiple submitters atrophy of testis
  • p.Pro28Ser Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro29Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Pro505Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro505Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro644Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Pro807Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Pro870Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro871Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Pro920Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro972Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Pro972Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ser189Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser207Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ser256Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser400Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser54Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser734Phe Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ser812Phe Multiple submitters Inborn genetic diseases
  • p.Ser855Leu Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ser881Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser962Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1000Met Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Thr132Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr222Lys Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Thr222Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr464= Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Thr464Met Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Thr609Met Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Thr615Asn Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Thr663Met Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Thr69Met Multiple submitters Inborn genetic diseases
  • p.Thr769Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr797Met Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Thr89Ala Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Thr916Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr993Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Trp299Gly Multiple submitters Charcot-Marie-Tooth disease recessive intermediate C
  • p.Tyr351Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr491Asn Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Val512Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Val518Met Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Val541Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val614Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val633Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val7Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val92Ile Multiple submitters Inborn genetic diseases ⚠
  • c.1080+4A>T Single submitter
  • c.1080+5G>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1080+8G>C Single submitter
  • c.1081-3C>T Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.1081-8T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+18_1131+34del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1131+4C>T Single submitter Inborn genetic diseases
  • c.1392+5G>A Single submitter
  • c.1392+8C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1542+6C>G Single submitter
  • c.1680+5G>A Single submitter
  • c.1681-3C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1933+4A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.1934-4C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.2050-13A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.211-3C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3011+6T>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.3012-17_3012-6del Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.3012-3T>C Single submitter Inborn genetic diseases
  • c.302+6G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.303-8G>A Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.440-11C>G Single submitter
  • c.796-9T>G Single submitter
  • c.984+3G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.985-6C>G Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.-117G>A Single submitter Inborn genetic diseases
  • c.-54C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.-5773T>A Single submitter
  • c.-88+6198G>T Single submitter
  • c.-88+6297G>C Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • c.*1006C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1016A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1087G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1289C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1332C>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1333C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1347G>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1354T>C Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1374C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*1405A>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*159G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*192G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*285C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*304C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*363C>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*555T>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*573G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*68C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*775T>G Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*801G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*816C>T Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • c.*905G>A Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala114Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala181Pro Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala187Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala187Val Single submitter Inborn genetic diseases ⚠
  • p.Ala198Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala19Pro Single submitter ⚠
  • p.Ala19Thr Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Ala247Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala247Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala262Pro Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala312Asp Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala34Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala380Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala391Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala466Thr Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ala507Pro Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala507Thr Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala507Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala513Ser Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala527Val Single submitter Inborn genetic diseases ⚠
  • p.Ala547Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala572Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Ala760Val Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Ala796Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala818Val Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Ala911Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala950Ser Single submitter ⚠
  • p.Ala986Thr Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg144Leu Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg191del Single submitter Charcot-Marie-Tooth disease recessive intermediate C
  • p.Arg202Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg203_Lys204insArg Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4
  • p.Arg249Cys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg249His Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg25Pro Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg265Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg265Pro Single submitter Inborn genetic diseases
  • p.Arg290Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg30His Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg315Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg332Gln Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg333Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg356Gln Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg382Leu Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg395Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg395His Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠
  • p.Arg411Cys Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg460Gln Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg460Trp Single submitter Inborn genetic diseases
  • p.Arg474Met Single submitter Charcot-Marie-Tooth disease recessive intermediate C ⚠
  • p.Arg500Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 4 ⚠