Sugi Variant

Sugi Variant/TRPV4

TRPV4 — 1291 ClinVar variants

All ClinVar germline TRPV4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 606 flagged for review →

31 Pathogenic · 11 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 91 Conflicting · 56 Benign · 56 Benign/Likely benign · 365 Likely benign · 654 Uncertain significance

Full TRPV4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 606

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 12

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

Predictors agree, ClinVar conflicts 45

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

Predictors lean, ClinVar uncertain 366

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 366

Predictors split 183

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 183

All TRPV4 variants

Pathogenic 31

  • p.Arg232Cys Multiple submitters TRPV4-related disorder ⚠
  • p.Arg269Cys Multiple submitters TRPV4-related disorder ⚠
  • p.Arg316Cys Multiple submitters TRPV4-related disorder ⚠
  • p.Arg616Gln Multiple submitters TRPV4-related disorder
  • p.Lys407Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Phe273Leu Multiple submitters TRPV4-related disorder
  • p.Pro799Leu Multiple submitters TRPV4-related disorder ⚠
  • p.Arg237Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg315Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Cys353Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Glu278Lys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly280Ser Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly600Glu Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly800= Single submitter metatropic dysplasia
  • p.Leu618Pro Single submitter metatropic dysplasia
  • p.Leu735Arg Single submitter Inborn genetic diseases
  • p.Lys276Glu Single submitter metatropic dysplasia ⚠
  • p.Pro82Leu Single submitter TRPV4-related bone disorder ⚠
  • p.Pro97Arg Single submitter neuronopathy, distal hereditary motor, autosomal dominant ⚠
  • p.Ser542Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr89Ile Single submitter TRPV4-related disorder ⚠
  • p.Arg271Pro No assertion criteria familial digital arthropathy-brachydactyly ⚠
  • p.Asp333Gly No assertion criteria spondylometaphyseal dysplasia, Kozlowski type
  • p.Gly270Val No assertion criteria familial digital arthropathy-brachydactyly
  • p.Gly78Trp No assertion criteria metatropic dysplasia ⚠
  • p.Ile331Phe No assertion criteria metatropic dysplasia
  • p.Pro799Ala No assertion criteria metatropic dysplasia ⚠
  • p.Pro799fs No assertion criteria spondyloepimetaphyseal dysplasia, Maroteaux type
  • p.Pro799Ser No assertion criteria metatropic dysplasia ⚠
  • p.Ser403Thr No assertion criteria metatropic dysplasia ⚠
  • p.Thr740Ile No assertion criteria metatropic dysplasia ⚠

Pathogenic/Likely pathogenic 11

  • p.Arg186Gln Multiple submitters TRPV4-Related Hereditary Motor And Sensory Neuropathy
  • p.Arg269His Multiple submitters TRPV4-related disorder
  • p.Arg315Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg315Trp Multiple submitters TRPV4-related disorder ⚠
  • p.Arg316His Multiple submitters TRPV4-related disorder ⚠
  • p.Arg594His Multiple submitters TRPV4-related disorder
  • p.Glu797Lys Multiple submitters TRPV4-related disorder ⚠
  • p.Phe471del Multiple submitters skeletal dysplasia and progressive central nervous system degeneration, lethal
  • p.Phe617Leu Multiple submitters TRPV4-related disorder
  • p.Pro827His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val620Ile Multiple submitters Charcot-Marie-Tooth disease ⚠

Likely pathogenic 27

Conflicting classifications of pathogenicity 91

  • c.1333-5C>T Single submitter Inborn genetic diseases
  • c.1491+10C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1491+10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-15C>G Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.387-6C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala10Val Single submitter Inborn genetic diseases ⚠
  • p.Ala217= Single submitter Inborn genetic diseases
  • p.Ala217Val Single submitter Inborn genetic diseases ⚠
  • p.Ala312Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala489Thr Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ala869Thr Single submitter connective tissue disorder ⚠
  • p.Arg160Gln Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg179Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg186Ter Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg206Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg232His Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg237Gln Single submitter TRPV4-related disorder ⚠
  • p.Arg248Cys Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg249His Single submitter Inborn genetic diseases ⚠
  • p.Arg271His Single submitter autosomal dominant brachyolmia ⚠
  • p.Arg320Ter Single submitter Inborn genetic diseases
  • p.Arg355His Single submitter Inborn genetic diseases ⚠
  • p.Arg391Trp Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg404His Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg460Gln Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg460Trp Single submitter TRPV4-related disorder ⚠
  • p.Arg464Cys Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg594Ser Single submitter TRPV4-related disorder ⚠
  • p.Arg616Ter Single submitter Charcot-Marie-Tooth disease
  • p.Arg76Cys Single submitter congenital myopathy ⚠
  • p.Arg774Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg821Cys Single submitter spondylometaphyseal dysplasia, Kozlowski type ⚠
  • p.Arg862fs Single submitter Inborn genetic diseases
  • p.Asn38Lys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asn528= Single submitter Inborn genetic diseases
  • p.Asp347Asn Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Cys853= Single submitter Inborn genetic diseases
  • p.Gln131= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu435Lys Single submitter TRPV4-associated skeletal dysplasias ⚠
  • p.Gly13Trp Single submitter Inborn genetic diseases ⚠
  • p.Gly20Arg Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly221Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly321= Single submitter Inborn genetic diseases
  • p.Gly370Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile210Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ile216Val Single submitter Inborn genetic diseases ⚠
  • p.Ile516Val Single submitter Inborn genetic diseases ⚠
  • p.Leu304= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu437= Single submitter connective tissue disorder
  • p.Leu459Arg Single submitter autosomal dominant brachyolmia ⚠
  • p.Leu559_Leu566del Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu671Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu698= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu714= Single submitter connective tissue disorder
  • p.Lys100= Single submitter Inborn genetic diseases
  • p.Lys801Glu Single submitter TRPV4-related disorder ⚠
  • p.Met69Leu Single submitter connective tissue disorder ⚠
  • p.Met718Val Single submitter TRPV4-related disorder ⚠
  • p.Pro49Thr Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Pro57= Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Pro60Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro638Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro638Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro65= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Pro749= Single submitter Inborn genetic diseases
  • p.Pro838Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro870Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser319Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser46Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser48Leu Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser542Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser659Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser768= Single submitter metatropic dysplasia
  • p.Ser768Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser94Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr175Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr305= Single submitter Inborn genetic diseases
  • p.Thr380Met Single submitter Inborn genetic diseases ⚠
  • p.Thr813= Single submitter autosomal dominant brachyolmia
  • p.Trp737Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Trp737Ter Single submitter Tip-toe gait
  • p.Tyr235Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr281Ser Single submitter Inborn genetic diseases
  • p.Tyr283Asn Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Tyr346= Single submitter Inborn genetic diseases
  • p.Tyr411= Single submitter Inborn genetic diseases
  • p.Tyr553fs Single submitter Charcot-Marie-Tooth disease
  • p.Tyr567Phe Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Tyr702= Single submitter Inborn genetic diseases
  • p.Val577Met Single submitter Inborn genetic diseases ⚠
  • p.Val783= Single submitter Charcot-Marie-Tooth disease axonal type 2C

Benign 56

Benign/Likely benign 56

  • c.1152+19dup Multiple submitters Charcot-Marie-Tooth disease
  • c.1153-10C>T Multiple submitters spondyloepimetaphyseal dysplasia, Maroteaux type
  • c.1584+13C>T Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.1584+17dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1585-18C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+15C>T Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.1824+4C>T Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.1825-14G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-15C>T Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.2337-16G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-4G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.712+10C>T Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.854-4G>A Multiple submitters Inborn genetic diseases
  • c.854-5C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.*423G>A Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*8A>C Multiple submitters
  • p.Ala10Pro Multiple submitters Inborn genetic diseases
  • p.Ala217Ser Multiple submitters connective tissue disorder ⚠
  • p.Ala312= Multiple submitters Charcot-Marie-Tooth disease
  • p.Arg446Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn796= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn833Ser Multiple submitters Inborn genetic diseases
  • p.Asp167= Multiple submitters Inborn genetic diseases
  • p.Asp769= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp839= Multiple submitters Charcot-Marie-Tooth disease
  • p.Glu183= Multiple submitters Inborn genetic diseases
  • p.Glu840Lys Multiple submitters Inborn genetic diseases
  • p.Gly11= Multiple submitters connective tissue disorder
  • p.Gly270= Multiple submitters Inborn genetic diseases
  • p.Gly428= Multiple submitters Inborn genetic diseases
  • p.Gly513= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly681= Multiple submitters spondylometaphyseal dysplasia, Kozlowski type
  • p.His447= Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Ile244= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ile436= Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Ile571Met Multiple submitters connective tissue disorder
  • p.Leu257Val Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Phe466= Multiple submitters Inborn genetic diseases
  • p.Phe485= Multiple submitters Inborn genetic diseases
  • p.Pro132= Multiple submitters Inborn genetic diseases
  • p.Pro142= Multiple submitters Inborn genetic diseases
  • p.Pro19= Multiple submitters Inborn genetic diseases
  • p.Pro358= Multiple submitters metatropic dysplasia
  • p.Pro51Leu Multiple submitters Inborn genetic diseases
  • p.Pro692= Multiple submitters Inborn genetic diseases
  • p.Pro838= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser134Arg Multiple submitters Inborn genetic diseases
  • p.Ser811= Multiple submitters connective tissue disorder
  • p.Ser824= Multiple submitters metatropic dysplasia
  • p.Thr527= Multiple submitters Inborn genetic diseases
  • p.Thr763= Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Tyr628= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Val254Met Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Val365Met Multiple submitters Inborn genetic diseases
  • p.Val562Ile Multiple submitters connective tissue disorder
  • p.Val750Ile Multiple submitters Inborn genetic diseases

Likely benign 365

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

  • c.1152+10C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-17C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1491+8C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-17C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.1492-55G>A Multiple submitters
  • c.1492-73G>C Multiple submitters
  • c.1584+12G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+12G>T Multiple submitters Charcot-Marie-Tooth disease
  • c.1584+18del Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+18G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+14G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.1825-14G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1891+47C>T Multiple submitters
  • c.1892-151G>A Multiple submitters
  • c.1892-9C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-5C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2337-6T>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+15G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.387-9C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.559+10C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.560-12C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.713-13C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.713-16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.854-84G>A Multiple submitters
  • p.Ala2= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala354= Multiple submitters Inborn genetic diseases
  • p.Ala364= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala378= Multiple submitters Inborn genetic diseases
  • p.Ala468= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala629Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg464= Multiple submitters Inborn genetic diseases
  • p.Arg828= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn334= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn368= Multiple submitters Inborn genetic diseases
  • p.Asn474= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn474Ser Multiple submitters Inborn genetic diseases
  • p.Asn850= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp208= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp369= Multiple submitters Inborn genetic diseases
  • p.Asp868= Multiple submitters Inborn genetic diseases
  • p.Cys537= Multiple submitters Inborn genetic diseases
  • p.Gly205= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly285= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly42= Multiple submitters Inborn genetic diseases
  • p.Gly719= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly765= Multiple submitters Inborn genetic diseases
  • p.His176= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile216= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile300Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile609= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile626= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile696= Multiple submitters Inborn genetic diseases
  • p.Leu242= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu257= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu291= Multiple submitters Inborn genetic diseases
  • p.Leu494= Multiple submitters Inborn genetic diseases
  • p.Leu717= Multiple submitters Inborn genetic diseases
  • p.Leu742= Multiple submitters Inborn genetic diseases
  • p.Phe155= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Phe526= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Phe748= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Pro12= Multiple submitters Inborn genetic diseases
  • p.Pro230= Multiple submitters Inborn genetic diseases
  • p.Pro493= Multiple submitters Inborn genetic diseases
  • p.Pro51= Multiple submitters Inborn genetic diseases
  • p.Pro827= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Pro861Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Pro870= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser117= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser159= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser319= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser432= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser48= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser5= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser542= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser659= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser663= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Thr112= Multiple submitters Inborn genetic diseases
  • p.Thr220= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Thr599= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Tyr110= Multiple submitters Inborn genetic diseases
  • p.Tyr478= Multiple submitters Inborn genetic diseases
  • p.Val254Leu Multiple submitters Inborn genetic diseases
  • p.Val264= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Val301= Multiple submitters Inborn genetic diseases
  • p.Val483= Multiple submitters Inborn genetic diseases
  • p.Val522= Multiple submitters Inborn genetic diseases
  • p.Val633= Multiple submitters Inborn genetic diseases
  • c.1152+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1152+12G>T Single submitter Charcot-Marie-Tooth disease
  • c.1152+19G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1152+20C>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1153-16C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1153-17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1153-198A>G Single submitter
  • c.1153-19C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1153-254T>C Single submitter
  • c.1153-6G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1332+12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1332+18G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-124A>G Single submitter
  • c.1333-14C>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-19A>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-20dup Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-20G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1491+11G>A Single submitter
  • c.1491+18G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-20dup Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-9G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+14C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+16C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+20G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+7G>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1585-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1585-15C>A Single submitter Charcot-Marie-Tooth disease
  • c.1658+10G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+15_1658+21del Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+16T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+20C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+7A>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1659-11C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1659-248C>T Single submitter
  • c.1659-7A>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+11GGA[3] Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+15G>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+17C>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+5G>A Single submitter Charcot-Marie-Tooth disease
  • c.1825-12T>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-5T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-8G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1891+119del Single submitter
  • c.1891+119dup Single submitter
  • c.1891+13T>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1891+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1891+7T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1892-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1892-12A>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1892-13T>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1892-13T>C Single submitter
  • c.2208+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2208+14G>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2208+3G>A Single submitter
  • c.2208+7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-8C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2336+10G>C Single submitter Charcot-Marie-Tooth disease
  • c.2336+124C>T Single submitter
  • c.2336+16T>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2336+18G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2336+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2336+8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2337-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2337-246A>T Single submitter
  • c.2337-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+15G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+17G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+7G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-11T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-191G>C Single submitter
  • c.2459-20C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-245C>T Single submitter
  • c.2459-38del Single submitter
  • c.2459-5T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2459-8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+10G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+15C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+17T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+180G>A Single submitter
  • c.386+26G>C Single submitter
  • c.386+9T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.387-17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.387-18C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.387-196A>G Single submitter
  • c.559+16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.560-18G>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.560-8C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.712+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.712+14C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.712+19C>A Single submitter
  • c.713-15G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.713-17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.853+12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.853+14T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.853+156G>A Single submitter
  • c.853+17T>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.854-18C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.854-20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.854-230T>C Single submitter
  • c.854-242del Single submitter
  • c.854-310C>T Single submitter
  • c.-51G>A Single submitter
  • c.*1G>A Single submitter
  • p.Ala10= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala139= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala198= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala266= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala327= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala378Pro Single submitter Inborn genetic diseases
  • p.Ala481= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala565= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala576= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala58= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ala631= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg219= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg336= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg503= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg56= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg746= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg76= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg775= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg818= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg821Gly Single submitter ⚠
  • p.Arg9= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn150= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn201= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn207= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn307= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn322= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn361= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asn445= Single submitter
  • p.Asn712= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp165= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp233= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Cys427= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Cys645= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gln806= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu17= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu187= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu22= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu225= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu247= Single submitter
  • p.Glu278= Single submitter Charcot-Marie-Tooth disease
  • p.Glu286= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu337= Single submitter
  • p.Glu397= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu448= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu453= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu647= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu728= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu797= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly370= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly521= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly7= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly723= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Gly73= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His252= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His299= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His401= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His731= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His787= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.His856= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile145= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile157= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile210= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile389= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile390= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile561= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile571= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile606= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile697= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile794= Single submitter
  • p.Ile795= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Ile83= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu107= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu169= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu202= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu213= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu325= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu351= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu362= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu402= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu421= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu434= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu487= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu518= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu523= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu532= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu552= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu566= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu582= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu619= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu623= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu670= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu671= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu673= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu709= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu710= Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Leu711= Single submitter Charcot-Marie-Tooth disease axonal type 2C

Uncertain significance 654

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

  • c.1130_1152+16del Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1491+5G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1491+5G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+5G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2336+1G>A Multiple submitters Charcot-Marie-Tooth disease
  • c.2337-13T>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.2458+4A>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.712+5G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.713-2dup Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.713-7C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • c.-16C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.*421G>A Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Ala198Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala198Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala266Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala266Val Multiple submitters spondylometaphyseal dysplasia, Kozlowski type ⚠
  • p.Ala431Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala52Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala640Val Multiple submitters autosomal dominant brachyolmia ⚠
  • p.Ala74Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Arg114Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg114His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg151Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg151Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg160fs Multiple submitters Inborn genetic diseases
  • p.Arg160Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg179His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg206His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg206Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg219Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg237= Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg237Ter Multiple submitters Inborn genetic diseases
  • p.Arg248His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg271_Phe272insSer Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg271Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg355Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg392Gln Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg392Trp Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg400Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg400Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg446Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg446His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg464Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg503His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg510Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg56Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg56His Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg64Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg64Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg661Cys Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg661His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg68Cys Multiple submitters metatropic dysplasia ⚠
  • p.Arg746Cys Multiple submitters neuronopathy, distal hereditary motor, autosomal dominant 8 ⚠
  • p.Arg746Gly Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg757Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg757His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg76Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg774His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg816His Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg818Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg819Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg821His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg852Cys Multiple submitters connective tissue disorder ⚠
  • p.Arg862His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg9Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg9His Multiple submitters Inborn genetic diseases ⚠
  • p.Asn445Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asn784Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn796Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asn833Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp109Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp167Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asp208Asn Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Asp347His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp359_Ala364del Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Asp359Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asp3Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asp425Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asp62Asn Multiple submitters spondyloepimetaphyseal dysplasia, Maroteaux type ⚠
  • p.Asp682Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Asp820Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Asp820Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp854Asn Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Cys294Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Cys853_Arg862del Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Cys853Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gln267Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Gln72Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Glu17Gly Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Glu225fs Multiple submitters Inborn genetic diseases
  • p.Glu430Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Glu448Asp Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Glu572Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Glu572Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu6Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Glu720Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly111Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly13Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly168Arg Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Gly261Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly28Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly539Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly595fs Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly61= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly627Arg Multiple submitters ⚠
  • p.Gly627Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Gly681Asp Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Gly793Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly7Asp Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Gly809Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly809Ser Multiple submitters autosomal dominant brachyolmia ⚠
  • p.His115Gln Multiple submitters Inborn genetic diseases ⚠
  • p.His243Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His309Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.His326Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ile127Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile157Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ile443Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ile529Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ile545Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Leu291Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Leu356Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Leu402Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Leu450Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Leu518Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Leu623fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Lys125Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Lys251Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Lys251Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Met314Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Met482Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met534Thr Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Met680Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe526Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Phe526del Multiple submitters connective tissue disorder
  • p.Phe75Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro132Ala Multiple submitters ⚠
  • p.Pro132Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro135Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro142Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal dominant 8 ⚠
  • p.Pro143Thr Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Pro308Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Pro308Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro358Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro493Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Pro499Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Pro655Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Pro749Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro8= Multiple submitters
  • p.Pro80Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro82Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser106Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser229Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser23Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser372Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Ser548Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser758Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ser824Leu Multiple submitters metatropic dysplasia ⚠
  • p.Ser836Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Thr190Met Multiple submitters autosomal dominant brachyolmia ⚠
  • p.Thr305Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr343Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr395Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr426Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr504Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr505Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr517Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Thr599Arg Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Thr721Arg Multiple submitters scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Trp733Ter Multiple submitters Inborn genetic diseases
  • p.Trp864Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Tyr110His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Tyr236His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Tyr253His Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Tyr439fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Tyr490Cys Multiple submitters parastremmatic dwarfism ⚠
  • p.Tyr491Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr508His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr567Ter Multiple submitters Inborn genetic diseases
  • p.Val158Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val469Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val476Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val515Phe Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val522Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val764Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val780Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Val814Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val829Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val830Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2C
  • p.Val841Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2C ⚠
  • c.1332+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-3T>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1333-4_1333-3del Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-1_1494del Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1492-1_1497delinsCCT Single submitter
  • c.1584+1G>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1584+5G>C Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1585-1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1658+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1659-19G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1659-1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1659-1G>T Single submitter
  • c.1824+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1824+4C>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-10G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.1825-11_1839dup Single submitter Inborn genetic diseases
  • c.2209-13_2209-5dup Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.2209-4G>A Single submitter Inborn genetic diseases
  • c.2209-9_2209-6del Single submitter Inborn genetic diseases
  • c.2458+1del Single submitter neuromuscular disease
  • c.2458+1G>C Single submitter
  • c.2459-7G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.386+1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.559+1G>A Single submitter
  • c.559+3G>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.712+1G>T Single submitter Charcot-Marie-Tooth disease
  • c.713-14_713-9delinsCCCCCG Single submitter
  • c.713-3C>A Single submitter
  • c.853+5G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.-31-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.-59C>T Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.-74G>A Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.-92G>T Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*145C>T Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*212G>A Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*227A>G Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*2G>A Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*303G>A Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.*405G>A Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*411A>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.*500C>T Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*51G>A Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • c.*83C>G Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • c.*99C>T Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant
  • p.Ala10Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala198Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala217Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala241Val Single submitter ⚠
  • p.Ala245Ser Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala245Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala266Asp Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala266Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala266Pro Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Ala293Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala2Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala30Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala327Gly Single submitter ⚠
  • p.Ala327Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala330Val Single submitter ⚠
  • p.Ala354Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala377Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala378Asp Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala410Val Single submitter Inborn genetic diseases ⚠
  • p.Ala431Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala451Pro Single submitter ⚠
  • p.Ala451Val Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Ala468Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala481Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala54Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala565Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala569Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala581Thr Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala589Val Single submitter Inborn genetic diseases ⚠
  • p.Ala716Ser Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala738Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala74Val Single submitter
  • p.Ala755Val Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Ala869Ser Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg124Lys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg219His Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg224Gln Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg249Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg249Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg336Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg336His Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg355Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg391fs Single submitter
  • p.Arg391Gln Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg392Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg392Pro Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg404Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg404Gly Single submitter ⚠
  • p.Arg446Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg446Pro Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg460Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg464Gly Single submitter ⚠
  • p.Arg464His Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg503Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg510fs Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg56Leu Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg68His Single submitter Charcot-Marie-Tooth disease axonal type 2C
  • p.Arg68Leu Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg753= Single submitter
  • p.Arg753Lys Single submitter scapuloperoneal spinal muscular atrophy, autosomal dominant ⚠
  • p.Arg757Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg76His Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg816Cys Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg816Gly Single submitter Charcot-Marie-Tooth disease axonal type 2C ⚠
  • p.Arg819= Single submitter Charcot-Marie-Tooth disease axonal type 2C