Sugi Variant

Sugi Variant/IGHMBP2

IGHMBP2 — 1434 ClinVar variants

All ClinVar germline IGHMBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 539 flagged for review →

89 Pathogenic · 35 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 112 Conflicting · 56 Benign · 37 Benign/Likely benign · 504 Likely benign · 558 Uncertain significance

Full IGHMBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 539

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 6

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

Predictors agree, ClinVar conflicts 52

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

Predictors lean, ClinVar uncertain 384

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 384

Predictors split 97

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

All IGHMBP2 variants

Pathogenic 89

  • c.1061-2A>G Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.449+1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala786fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg147Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg570Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Arg605Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg790Ter Multiple submitters Inborn genetic diseases
  • p.Asn81fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Cys932fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Gln276Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Gln854Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Glu514Lys Multiple submitters IGHMBP2-related disorder
  • p.Gly98fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu236Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Leu361Pro Multiple submitters Inborn genetic diseases
  • p.Lys868fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Pro810fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Trp31Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1060+2T>C Single submitter
  • c.2611+1G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2784+1G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.711+1G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.711+1G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala452fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala494fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala94fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg436fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg71Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg943Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asp312fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gln100Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln125Ter Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gln196Ter Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gln230Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln260fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln41fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln41Ter Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gln55Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln568fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln657fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln680fs Single submitter
  • p.Gln845fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln859Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu181Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu18fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu506Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu641fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly266fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly589fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gly668fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.His411fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.His759fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ile561fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ile733fs Single submitter
  • p.Leu255fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Leu361fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Leu488fs Single submitter Charcot-Marie-Tooth disease
  • p.Leu623fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Leu626fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Leu950fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Lys156fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Lys233fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Lys298fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Lys316_Ser317insTer Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Lys867Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Met449fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Phe640fs Single submitter
  • p.Pro216His Single submitter
  • p.Pro268fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Pro557fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Pro963fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser165_Leu166insTer Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser539_Tyr541del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser856Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr107fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Thr218fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr221fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr407fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr493Ala Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr896fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Tyr651fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Tyr72Ter Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Val109fs Single submitter
  • p.Val225fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Val409fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Val45fs Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.His401Arg No assertion criteria Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Phe369Leu No assertion criteria autosomal recessive distal spinal muscular atrophy 1
  • p.Val373Gly No assertion criteria Charcot-Marie-Tooth disease axonal type 2S

Pathogenic/Likely pathogenic 35

  • c.1235+894C>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.2611+1G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.449+1G>T Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.547+1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg130Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Arg264Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg320Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Arg425Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg43Ter Multiple submitters distal hereditary motor neuropathy
  • p.Arg603His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg788Ter Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Arg971fs Multiple submitters Inborn genetic diseases
  • p.Asp565Asn Multiple submitters Inborn genetic diseases
  • p.Cys46Ter Multiple submitters IGHMBP2-related disorder
  • p.Cys496Ter Multiple submitters Inborn genetic diseases
  • p.Gln302Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln446Ter Multiple submitters distal hereditary motor neuropathy
  • p.Gln847fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Glu226fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu376Lys Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Glu382Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly354Ser Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.His213Arg Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.His445Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Leu137fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Leu577Arg Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Lys328fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Met1Thr Multiple submitters Inborn genetic diseases
  • p.Phe579Leu Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser419fs Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr439fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Thr493Ile Multiple submitters IGHMBP2-related disorder
  • p.Trp386Arg Multiple submitters Inborn genetic diseases
  • p.Val467fs Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Val580Ile Multiple submitters IGHMBP2-related disorder

Likely pathogenic 43

  • c.1632+1G>T Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1633-2A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.1060+1G>A Single submitter
  • c.1060+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1061-1G>C Single submitter Charcot-Marie-Tooth disease
  • c.1235+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+2T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1236-1G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1418+1G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1757-1G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.256+5G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.257-1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.257-2A>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.449+2del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.449+2T>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.712-610A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.86+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.86+2T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.905_912+85del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.913-18_913-2del Single submitter IGHMBP2-related disorder
  • p.Arg606His Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asn598Lys Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Asn895Ter Single submitter
  • p.Asp295Gly Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Asp565Gly Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln709Ter Single submitter
  • p.Gln845Ter Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Gly61Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly871fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.His213Pro Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.His401Gln Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.His464Arg Single submitter neurodevelopmental disorder
  • p.Leu488Pro Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Lys112Ter Single submitter IGHMBP2-related disorder
  • p.Lys12fs Single submitter spinal muscular atrophy
  • p.Lys700Ter Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Phe499fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ser244fs Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Trp451Arg Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Tyr951fs Single submitter IGHMBP2-related disorder
  • p.Gln230Glu No assertion criteria autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly676Ter No assertion criteria distal hereditary motor neuropathy
  • p.Leu498Pro No assertion criteria autosomal recessive distal spinal muscular atrophy 1

Conflicting classifications of pathogenicity 112

  • c.1060+8G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1235+10del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1235+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1236-10C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1236-5C>T Single submitter Inborn genetic diseases
  • c.1236-6G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1236-6G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1537+5G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1632+4C>T Single submitter Inborn genetic diseases
  • c.1756+4C>T Single submitter Inborn genetic diseases
  • c.2612-13G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2612-15G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2784+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.547+9T>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.548-10T>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*18C>T Single submitter Charcot-Marie-Tooth disease
  • c.*6C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala102Ser Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala117= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala242= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala256Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala285= Single submitter Inborn genetic diseases
  • p.Ala355Val Single submitter Inborn genetic diseases ⚠
  • p.Ala398= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala398Glu Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala398Val Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala432Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala528Thr Single submitter IGHMBP2-related disorder ⚠
  • p.Ala813Val Single submitter Inborn genetic diseases ⚠
  • p.Ala849Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala889= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala890Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala952= Single submitter Inborn genetic diseases
  • p.Arg264Cys Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg264His Single submitter Inborn genetic diseases ⚠
  • p.Arg286Gln Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg425His Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg436Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg443Cys Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg443His Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg473= Single submitter Inborn genetic diseases
  • p.Arg603Gly Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg615= Single submitter Inborn genetic diseases
  • p.Arg615His Single submitter Inborn genetic diseases ⚠
  • p.Arg637Cys Single submitter IGHMBP2-related disorder ⚠
  • p.Arg785= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg790Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg946Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg987Gln Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn318Asp Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn321= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asn713= Single submitter Inborn genetic diseases
  • p.Asn958Asp Single submitter Inborn genetic diseases ⚠
  • p.Asp301Asn Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp375= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asp400Asn Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp474Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asp754Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp93Asn Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp974Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Cys377Tyr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Cys395Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys932= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln277Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gln55His Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Gln680= Single submitter Inborn genetic diseases
  • p.Glu881= Single submitter Inborn genetic diseases
  • p.Gly495Ser Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly497Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly589Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly61Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly676Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly714Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly905Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly931= Single submitter Charcot-Marie-Tooth disease
  • p.Gly948= Single submitter Inborn genetic diseases
  • p.His278Asp Single submitter Inborn genetic diseases
  • p.Ile35Val Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ile374Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Leu101= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Leu339Phe Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Leu426Arg Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Leu517= Single submitter Inborn genetic diseases
  • p.Leu577Pro Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Lys220Asn Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Lys870Glu Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Lys892Glu Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Lys957Glu Single submitter Inborn genetic diseases ⚠
  • p.Met742Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Phe202Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe579= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Pro531Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Pro557Ala Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Pro697Leu Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Pro787= Single submitter Inborn genetic diseases
  • p.Pro787Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro873= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Pro873Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser287Arg Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ser421Arg Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ser508Leu Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser74= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Tyr430= Single submitter Charcot-Marie-Tooth disease
  • p.Val232= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Val238= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Val478Met Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Val537Glu Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Val726Met Single submitter Inborn genetic diseases ⚠
  • p.Val891Ile Single submitter Inborn genetic diseases ⚠
  • p.Ala813fs No assertion criteria Charcot-Marie-Tooth disease axonal type 2S
  • p.Gln196Arg No assertion criteria neuronopathy, distal hereditary motor, autosomal dominant ⚠
  • p.Phe202Val No assertion criteria Charcot-Marie-Tooth disease axonal type 2S ⚠

Benign 56

Benign/Likely benign 37

  • c.1418+11C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.1538-20C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.256+9G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.548-20C>T Multiple submitters Charcot-Marie-Tooth disease
  • c.86+7G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.-2C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.*22C>T Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.*3G>A Multiple submitters Charcot-Marie-Tooth disease
  • p.Ala247= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ala383= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala432Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala609= Multiple submitters Inborn genetic diseases
  • p.Ala75Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala844= Multiple submitters Inborn genetic diseases
  • p.Gln51Glu Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu774= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gly44= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly910= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.His122= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.His607= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.His765= Multiple submitters Inborn genetic diseases
  • p.Ile275Val Multiple submitters Charcot-Marie-Tooth disease
  • p.Leu19= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu201Ser Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu404= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu961= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Phe590= Multiple submitters Inborn genetic diseases
  • p.Pro697= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ser772= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Thr115Met Multiple submitters Charcot-Marie-Tooth disease
  • p.Thr671Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr675= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr993= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Tyr368= Multiple submitters Inborn genetic diseases
  • p.Tyr60= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Tyr92= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Val518= Multiple submitters autosomal recessive distal spinal muscular atrophy 1

Likely benign 504

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

  • c.1060+10C>T Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1060+35C>G Multiple submitters
  • c.1060+7G>A Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1061-19G>A Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1235+108C>T Multiple submitters
  • c.1235+38C>T Multiple submitters
  • c.1537+188C>T Multiple submitters
  • c.1537+9G>C Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1538-11_1538-8del Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1633-14G>A Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1756+13C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.1756+8G>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.1757-149C>T Multiple submitters
  • c.257-11T>C Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.2612-14C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-16C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.2784+111C>A Multiple submitters
  • c.2785-14T>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.450-80T>C Multiple submitters
  • c.548-19G>A Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.87-19A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • c.*175T>C Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.*524T>C Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.*648G>A Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ala357= Multiple submitters Inborn genetic diseases
  • p.Ala494= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala890= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg62= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg674= Multiple submitters Inborn genetic diseases
  • p.Arg823Cys Multiple submitters Inborn genetic diseases
  • p.Arg946Trp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn318= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Asn583= Multiple submitters Inborn genetic diseases
  • p.Asn895= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Asn958= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Asp505= Multiple submitters Inborn genetic diseases
  • p.Asp644= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Cys395= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Cys496= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Cys897= Multiple submitters Charcot-Marie-Tooth disease
  • p.Gln379= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Glu641= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly634= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Gly658= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly715= Multiple submitters Inborn genetic diseases
  • p.Gly719= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly798= Multiple submitters Inborn genetic diseases
  • p.Gly905= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Gly992= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.His213= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.His753= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ile646= Multiple submitters Inborn genetic diseases
  • p.Leu239= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu471= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Leu833= Multiple submitters Inborn genetic diseases
  • p.Leu977= Multiple submitters Charcot-Marie-Tooth disease
  • p.Pro666= Multiple submitters Inborn genetic diseases
  • p.Pro819= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Pro848= Multiple submitters Charcot-Marie-Tooth disease
  • p.Ser113= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser121Phe Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ser287= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser317= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Ser344= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ser82= Multiple submitters Inborn genetic diseases
  • p.Ser850= Multiple submitters Inborn genetic diseases
  • p.Ser954= Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Thr115= Multiple submitters Inborn genetic diseases
  • p.Thr493= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Thr616= Multiple submitters Inborn genetic diseases
  • p.Thr638= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Thr799= Multiple submitters Inborn genetic diseases
  • p.Thr896= Multiple submitters Inborn genetic diseases
  • p.Val252= Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1060+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1060+18T>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1060+8G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1060+9G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1061-15C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1061-16T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1061-17C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1061-20C>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1061-20C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1061-5A>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1061-7C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1235+13T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+17_1235+25del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+18_1235+27del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+20_1235+21del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+894C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1235+894C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1235+914C>T Single submitter
  • c.1235+950C>T Single submitter
  • c.1235+9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1236-17C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1236-19T>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1236-4G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1236-4G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1236-6G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1418+12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1418+13G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1419-10T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1419-12C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1419-17C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1419-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1419-8T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1537+10C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1537+13G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1537+15A>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1537+160C>T Single submitter
  • c.1537+17A>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1537+18T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1538-20C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1538-4C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1538-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1538-5T>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1632+12T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1632+16T>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1632+28C>T Single submitter
  • c.1632+95C>T Single submitter
  • c.1633-12C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1633-15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1633-59A>C Single submitter
  • c.1633-7G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1756+16C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1756+17A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1756+7A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1757-13T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1757-17C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1757-19C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1757-4G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1757-4G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1757-6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.1757-9C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.256+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.256+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.256+18T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.256+20G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.256+7del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.256+7G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.256+8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.257-10G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.257-11T>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.257-151T>A Single submitter
  • c.257-15T>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.257-17A>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.257-279T>C Single submitter
  • c.257-4G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.257-4G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.257-5T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2611+12A>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2611+14dup Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2611+17_2611+19del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2611+17G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2611+20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2611+258G>C Single submitter
  • c.2611+288C>T Single submitter
  • c.2611+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2611+9A>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-10T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-11G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2612-12G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-15dup Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-20G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2612-4C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2784+15C>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2784+7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2784+8G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-13G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-13G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-19A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-39C>A Single submitter
  • c.2785-4C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2785-4C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-6C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-7_2785-4del Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.2785-8C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.449+12G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.449+13G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.449+17G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.449+18G>A Single submitter
  • c.449+7G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.449+8G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.450-13T>C Single submitter Charcot-Marie-Tooth disease
  • c.450-17G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.450-4G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.450-4G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.450-6T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.547+11C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.547+15G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.547+19T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.547+20C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.547+20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.547+227del Single submitter
  • c.547+271G>A Single submitter
  • c.548-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.548-13G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.548-13G>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.548-19G>T Single submitter
  • c.548-223C>T Single submitter
  • c.548-8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.548-9C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.711+10G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.711+12A>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.711+15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.711+164C>T Single submitter
  • c.711+16C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.711+17A>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.711+8G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.712-10C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.712-13T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.712-172C>T Single submitter
  • c.712-18C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.712-5C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.712-9G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.86+19G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.86+282A>G Single submitter
  • c.86+7G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.86+9G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-11G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-11G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-12G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-13G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.87-14C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-160G>A Single submitter
  • c.87-18A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.87-20C>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.87-7C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.87-9G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.912+10A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.912+11T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.912+13G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.912+144T>C Single submitter
  • c.912+15C>G Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.912+18T>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.912+259C>T Single submitter
  • c.913-10T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.913-12T>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.913-19C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.913-6T>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.913-8C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.-14G>C Single submitter
  • c.-25C>T Single submitter
  • c.-30G>C Single submitter
  • c.-34C>G Single submitter
  • c.-3G>A Single submitter
  • c.-49G>C Single submitter
  • c.*417C>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*729G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*860G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala151= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala163= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala199= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala2= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala203= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala282= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala290= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala336= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala337= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala355= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala380= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala4= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala413= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala414= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala427= Single submitter
  • p.Ala432= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala5= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala528= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala574= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala662= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala663= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala670Ser Single submitter
  • p.Ala690= Single submitter Charcot-Marie-Tooth disease
  • p.Ala698= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala706= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala731= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala75= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala762= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala791= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala803= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala855= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala869= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala904= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala95= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala964= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala967= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg108= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg146= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg147= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg264= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg297= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg425= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg43= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg436Gln Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg469= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg56= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg581= Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg595= Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Arg694Trp Single submitter autosomal recessive distal spinal muscular atrophy 1

Uncertain significance 558

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

  • c.1235+450G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala102Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala151Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala199Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala203Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala242Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala247Thr Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala282Thr Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala285Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala336Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala355Glu Multiple submitters IGHMBP2-related disorder ⚠
  • p.Ala383Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala447Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala609Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala706Thr Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala731Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala77Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala792Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala869Val Multiple submitters ⚠
  • p.Ala938Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala940Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala95Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg108Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg130Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg147Gln Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg254Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg254His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg261Trp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg270Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg286Trp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg450Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg450His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg516Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg533Cys Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg56His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg570Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg595Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg595Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg605Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg606Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg615Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg62Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg62Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg62Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg679Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg694Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg71Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Arg730Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg918Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg918His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg919Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg919His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg919Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg919Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2S
  • p.Arg941Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg941Trp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg987Trp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn245Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asn307His Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn346Asp Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn655Ser Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn655Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn96Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn982Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp123Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp123His Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp370Asn Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp546Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp645Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp770Asn Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp882Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Cys385Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Cys902Arg Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Glu131Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu208Lys Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Glu322Ala Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Glu329Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Glu340Lys Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Glu718Gln Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Glu852Gln Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly161Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly214Ala Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly431Ser Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly497Trp Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly719Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly73Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly773Arg Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gly794Arg Multiple submitters ⚠
  • p.Gly800Ser Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gly857Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly953Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly992Val Multiple submitters Inborn genetic diseases ⚠
  • p.His159del Multiple submitters Inborn genetic diseases
  • p.His183Tyr Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.His521Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His653Pro Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.His765Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Ile167Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile227Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ile246Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile296Thr Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ile448Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ile561Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile929Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Leu152Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Leu272Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu458Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu475Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Lys298Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys308Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Lys309Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys585Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys665Asn Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Met732Val Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Phe369Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe579Cys Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Phe883Leu Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Pro178Ala Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Pro243Arg Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Pro243Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro405Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro796Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro848Ser Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser127Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser177Arg Multiple submitters Inborn genetic diseases
  • p.Ser341Asn Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser344Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser53Phe Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser656Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser660Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser708Cys Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ser711Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ser711Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr194Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr222Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr439Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Thr455Pro Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Thr481Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Thr484Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • p.Thr625Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr625Ile Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Thr638Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Thr671Arg Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Thr671Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Thr832Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr879Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Thr993Met Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Tyr642His Multiple submitters Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Tyr951Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Val200Ile Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Val293Ile Multiple submitters Charcot-Marie-Tooth disease ⚠
  • p.Val371Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val434Gly Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Val486Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val518Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val599Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Val608Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Val65Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Val89Met Multiple submitters autosomal recessive distal spinal muscular atrophy 1
  • c.1235+600_1235+601insCTGGAGCCCTGATGCG Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1418+4_1418+5del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1418+4A>G Single submitter Inborn genetic diseases
  • c.1418+5G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1537+88G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1632+5G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.1756+5G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2612-3C>T Single submitter Charcot-Marie-Tooth disease
  • c.2785-3C>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.2785-3C>T Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.450-24_450-22del Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.547+4A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.712-9G>A Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.912+3A>G Single submitter
  • c.912+4G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.912+4G>C Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • c.913-5T>C Single submitter Inborn genetic diseases
  • c.-5C>T Single submitter
  • c.*108G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*117G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*172C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*226G>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*23C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*242C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*379G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*415G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*425G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*465C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*466G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*4G>A Single submitter
  • c.*529C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*565G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*648G>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*666G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*692A>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*698C>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*754G>A Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*788C>T Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*797T>G Single submitter autosomal recessive distal spinal muscular atrophy 1
  • c.*862T>C Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala102Val Single submitter ⚠
  • p.Ala117Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala199Pro Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala282Val Single submitter Inborn genetic diseases ⚠
  • p.Ala290Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala350Gly Single submitter ⚠
  • p.Ala380Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala383Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala414Val Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala427Pro Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala432Leu Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Ala494Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala4Thr Single submitter ⚠
  • p.Ala524Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala574Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala604Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala609Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala662Pro Single submitter ⚠
  • p.Ala662Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala686Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala687_Ala688del Single submitter Inborn genetic diseases
  • p.Ala690Gly Single submitter ⚠
  • p.Ala75Val Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala786Thr Single submitter ⚠
  • p.Ala792Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala803Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala813Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala813Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala844Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala844Val Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala849Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala869_Lys870dup Single submitter autosomal recessive distal spinal muscular atrophy 1
  • p.Ala874Val Single submitter Inborn genetic diseases ⚠
  • p.Ala885Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Ala893Thr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Ala904Val Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg108Gln Single submitter ⚠
  • p.Arg270His Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg28His Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg333Lys Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg43Gln Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg443Pro Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg450Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg473Lys Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg555Lys Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg56Cys Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg56Ser Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg603Cys Single submitter distal hereditary motor neuropathy ⚠
  • p.Arg637His Single submitter Inborn genetic diseases ⚠
  • p.Arg679Gln Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg70Gly Single submitter ⚠
  • p.Arg71Gln Single submitter ⚠
  • p.Arg730Gln Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg755Ser Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg757Gln Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg757Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg777Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg785Lys Single submitter ⚠
  • p.Arg788Pro Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg820Gly Single submitter ⚠
  • p.Arg831Thr Single submitter Charcot-Marie-Tooth disease ⚠
  • p.Arg937Cys Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg943Ile Single submitter Inborn genetic diseases ⚠
  • p.Arg943Ser Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg966Lys Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Arg971Lys Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Arg984Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg984Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg988Lys Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn245Ile Single submitter ⚠
  • p.Asn245Thr Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn307Ser Single submitter ⚠
  • p.Asn307Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn511Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asn619Ser Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asn81Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn81Ser Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asn895Asp Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp129Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp142Glu Single submitter Charcot-Marie-Tooth disease axonal type 2S
  • p.Asp22Glu Single submitter ⚠
  • p.Asp22Tyr Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Asp249Asn Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp249Gly Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp288Asn Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp400Tyr Single submitter ⚠
  • p.Asp454Asn Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Asp594Ala Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Cys258Arg Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Cys385Phe Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Cys46Gly Single submitter ⚠
  • p.Cys913Phe Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gln111His Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gln125His Single submitter autosomal recessive distal spinal muscular atrophy 1 ⚠
  • p.Gln196His Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gln206Arg Single submitter Charcot-Marie-Tooth disease axonal type 2S ⚠
  • p.Gln302Arg Single submitter ⚠
  • p.Gln32Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln32His Single submitter Inborn genetic diseases