Sugi Variant

Sugi Variant/YARS1

YARS1 — 535 ClinVar variants

All ClinVar germline YARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 231 flagged for review →

6 Pathogenic · 3 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 26 Conflicting · 32 Benign · 10 Benign/Likely benign · 164 Likely benign · 290 Uncertain significance

Full YARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 231

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 159

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 159

Predictors split 58

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

All YARS1 variants

Pathogenic 6

  • p.Gly41Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Phe53fs Single submitter Inborn genetic diseases
  • p.Asp81Ile No assertion criteria Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly525Arg No assertion criteria neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
  • p.Pro213Leu No assertion criteria neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
  • p.Val153_Val156del No assertion criteria Charcot-Marie-Tooth disease dominant intermediate C

Pathogenic/Likely pathogenic 3

  • p.Glu196Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu196Lys Multiple submitters neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
  • p.Pro167Thr Multiple submitters YARS-related disorders

Likely pathogenic 4

  • c.510+2T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Arg16Trp Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset
  • p.Pro167Ala Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
  • p.Ser162Thr Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset

Conflicting classifications of pathogenicity 26

  • c.381-6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.510+10G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.684+3A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala316Thr Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠
  • p.Arg207Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg279Ter Single submitter Inborn genetic diseases
  • p.Arg367Trp Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠
  • p.Asn425_Leu426insTer Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu196Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu479Lys Single submitter Inborn genetic diseases ⚠
  • p.Ile14Phe Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠
  • p.Ile38fs Single submitter Inborn genetic diseases
  • p.Ile517Val Single submitter Inborn genetic diseases ⚠
  • p.Ile59Thr Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠
  • p.Leu131= Single submitter Inborn genetic diseases
  • p.Leu161= Single submitter Inborn genetic diseases
  • p.Met350Val Single submitter Inborn genetic diseases ⚠
  • p.Met431Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe488= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro360Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser338Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr15= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr193= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Tyr166Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr97Cys Single submitter Neurodevelopmental delay ⚠
  • p.Val410Met Single submitter Inborn genetic diseases ⚠

Benign 32

  • c.1042+208C>A Multiple submitters
  • c.1141-298A>T Multiple submitters
  • c.204+48C>T Multiple submitters
  • c.205-57C>T Multiple submitters
  • c.380+211A>G Multiple submitters
  • c.57+14G>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-29G>T Multiple submitters
  • c.684+118C>G Multiple submitters
  • c.-464C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.-539G>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.*138G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.*293A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr45= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-16C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1476+304G>C Single submitter
  • c.381-96dup Single submitter
  • c.57+174C>T Single submitter
  • c.906+224A>G Single submitter
  • c.906+244C>T Single submitter
  • c.-129C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-188G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-245T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-283G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-437G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-442C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*21C>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*386G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*439T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*680A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*681T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu169= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val139Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C

Benign/Likely benign 10

  • c.1141-9C>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.-623G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.*284A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala339Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asn425= Multiple submitters Inborn genetic diseases
  • p.Glu20= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu361Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu336= Multiple submitters Inborn genetic diseases
  • p.Pro360= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro458= Multiple submitters Inborn genetic diseases

Likely benign 164

  • c.1042+20G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-15G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.1334+17A>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-17C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-19C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.380+19A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.511-10C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.511-16G>A Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+16T>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+9C>T Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala332= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala397= Multiple submitters Inborn genetic diseases
  • p.Arg207= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Arg34= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asp393= Multiple submitters Inborn genetic diseases
  • p.Gln182= Multiple submitters Inborn genetic diseases
  • p.Gln416Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile376= Multiple submitters Inborn genetic diseases
  • p.Ile445Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile502= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu164= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu415= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys496Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro399= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ser226= Multiple submitters Inborn genetic diseases
  • p.Ser498= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val21= Multiple submitters Inborn genetic diseases
  • p.Val303= Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.1042+254C>G Single submitter
  • c.1043-14C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1043-17G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1043-18G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1043-19G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1043-20G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1140+13C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1140+18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-13C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-19T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-286G>A Single submitter
  • c.1141-4G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1141-8C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1334+18G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1335-17G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1335-4C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1335-8C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1335-9T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1476+17G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1476+20C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1477-22CT[2] Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.204+12T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.204+16A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.204+16A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-11C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-16C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-17C>A Single submitter
  • c.205-18C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-8T>C Single submitter
  • c.380+13T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.380+13T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.381-11_381-7del Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.381-11T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.381-9C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.510+12G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.510+16G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.510+91G>A Single submitter
  • c.511-18A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.511-44A>G Single submitter
  • c.57+10G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+10G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+269C>G Single submitter
  • c.58-13G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.58-5A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.58-7A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.58-7A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+17C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+20T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-10A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-11dup Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-17T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-20G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.592-268G>A Single submitter
  • c.592-269G>A Single submitter
  • c.592-6T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.684+10C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.684+17G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.684+18A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.907-11C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.907-14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.907-19G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.907-31T>A Single submitter
  • c.907-4G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.907-7T>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-28G>A Single submitter
  • c.*106C>T Single submitter
  • p.Ala462= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala60= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Arg450= Single submitter
  • p.Asn509= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asp132= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asp144= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asp383= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Cys501= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gln142= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gln408= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu157= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu227= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu228Asp Single submitter
  • p.Glu326= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu379= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu98= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly353= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly395= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly46= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly525= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly66= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.His143= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.His381= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.His77= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile101= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile14= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile370= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile445= Single submitter
  • p.Ile445Thr Single submitter
  • p.Ile71= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu18= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu218= Single submitter
  • p.Leu22= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu387= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu406= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu419= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu481= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu491= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu522= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu80= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu90= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys154= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys310= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys334= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys374= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys58= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Phe409= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro159= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro167= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro365= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro86= Single submitter
  • p.Ser138= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ser225= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ser338= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ser404= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ser521= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr121= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr330= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr42= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Thr44= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val110= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val152= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val156= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val315= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val394= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val421= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val422= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val467= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val469= Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro342= No assertion criteria YARS1-related disorder

Uncertain significance 290

  • c.1042+3A>C Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.58-2A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • c.*539A>G Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala181Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Ala384Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala43Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala503Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala503Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala60Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg207Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg325Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg34Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg367Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg400Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg400Trp Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg450Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg450His Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg450Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg450Pro Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg93Ter Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asn329_Thr330insAsn Multiple submitters Inborn genetic diseases
  • p.Asp144Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp385Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Asp61Asn Multiple submitters neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠
  • p.Gln124Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gln188His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu151Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu157Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Glu326Gly Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu473Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu480del Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly168Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly373Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly405Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly41Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly515Ser Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly524Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly524Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly524Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly524Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly525Glu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile108Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile392Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile59Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile71Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu72Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys116Arg Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys116Met Multiple submitters Inborn genetic diseases ⚠
  • p.Lys119Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys310Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys374Asn Multiple submitters ⚠
  • p.Lys484Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys496Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys64Gln Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met104Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met214Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met214Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met511Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met56Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met56Val Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met83Thr Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro360Ala Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro365fs Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro454Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro454Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro458Leu Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro483Leu Multiple submitters Inborn genetic diseases
  • p.Ser137Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser345Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Thr330Asn Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr42Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr508Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr70Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr70Lys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Trp87Ter Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Tyr204Cys Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val100Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val153Ile Multiple submitters Inborn genetic diseases
  • p.Val313Ile Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val403Met Multiple submitters Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • c.1042+1G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1042+6G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1140+4C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1140+6C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.1476+2T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-2A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.205-3C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.380+1G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.380+4A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.381-2A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.510+2_510+10del Single submitter
  • c.511-14G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.511-3C>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+1G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+1G>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.57+4A>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.58-4A>G Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+3G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+4_591+7del Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.591+6T>A Single submitter neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
  • c.-110G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-157G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-167T>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-260G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-269C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-333C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-415C>T Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-441G>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.-620A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*369G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*399G>A Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*599A>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • c.*724T>C Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala181Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala201Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala201Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala337Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala339Val Single submitter ⚠
  • p.Ala397Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala397Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala443Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala462Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala4Val Single submitter Inborn genetic diseases ⚠
  • p.Ala503Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala65_Cys67del Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ala74= Single submitter
  • p.Ala74Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala78Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala78Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ala78Val Single submitter ⚠
  • p.Ala85Ser Single submitter ⚠
  • p.Arg135Ser Single submitter ⚠
  • p.Arg16Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg189fs Single submitter
  • p.Arg325Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg371Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg371His Single submitter Inborn genetic diseases ⚠
  • p.Arg418Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Arg93Gln Single submitter Inborn genetic diseases ⚠
  • p.Asn329Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asn425His Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asn526fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asn526Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asn526Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn82Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asn82Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asn99Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp132Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp187Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp298Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp308Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp322Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp3fs Single submitter
  • p.Asp417Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp478Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Asp494Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp61Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Asp81Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp81His Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Cys442Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gln142Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gln142Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gln142Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gln19Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln408Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gln416Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gln429Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gln451His Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu106Lys Single submitter ⚠
  • p.Glu151Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu157Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu175Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Glu20Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu314Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu326Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu362Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu379Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu435Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu435Lys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu446Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu480Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu480Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu91Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Glu98Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly109Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly163Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly168fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Gly185Val Single submitter ⚠
  • p.Gly433Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Gly438Cys Single submitter Inborn genetic diseases ⚠
  • p.His305Tyr Single submitter ⚠
  • p.His466Asp Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile108Thr Single submitter ⚠
  • p.Ile14Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile14Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile186Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile30Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile30Val Single submitter Inborn genetic diseases ⚠
  • p.Ile324Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Ile324Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile324Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile375Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile445Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile502Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ile527Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Leu136Val Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu202Phe Single submitter Inborn genetic diseases
  • p.Leu31Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Leu336fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Leu415Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Leu426Pro Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Leu440Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu481Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu63Ter Single submitter
  • p.Leu89Phe Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys146Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys147Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys190Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys26Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys335fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys348Glu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys356Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys380Gln Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys427Gln Single submitter ⚠
  • p.Lys470_Gly475del Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Lys474Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys47Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys496Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Lys523Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Met211Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Met350Thr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Phe249del Single submitter
  • p.Phe409Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Phe468_Val469insTer Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Phe488Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro111Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro216Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro331Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro399Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro428fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Pro454Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro463Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Pro86Ser Single submitter Inborn genetic diseases
  • p.Ser221Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser224Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser338Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser345Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser386Ile Single submitter ⚠
  • p.Ser444Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser444del Single submitter Inborn genetic diseases
  • p.Ser518Tyr Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser528Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Ser6Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr121Ser Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr130Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr15Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr15Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr44Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr44Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr508Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr70Arg Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Thr70fs Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Trp505Ter Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Tyr123His Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr129Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr204Asn Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr388Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr39His Single submitter Inborn genetic diseases ⚠
  • p.Tyr472Cys Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val133Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val139Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val156Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val156Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val208Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val215Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val260= Single submitter Charcot-Marie-Tooth disease
  • p.Val304Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val378_Glu379insGlyLysIleIleThrVal Single submitter Charcot-Marie-Tooth disease dominant intermediate C
  • p.Val378Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val389Ile Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val394Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val394Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val402fs Single submitter
  • p.Val402Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val410Leu Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val421Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val467Gly Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val469Met Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Val54Ala Single submitter Charcot-Marie-Tooth disease dominant intermediate C ⚠
  • p.Tyr204Ser No assertion criteria neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 ⚠