MED25 — 780 ClinVar variants

All ClinVar germline MED25 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 275 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 20 Conflicting · 24 Benign · 17 Benign/Likely benign · 369 Likely benign · 342 Uncertain significance

Full MED25 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 275

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 7

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

MED25 p.Ala335Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg186Trp Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asp126Val Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Pro201Leu Conflicting Single submitter
Inborn genetic diseases
MED25 p.Pro270Gln Conflicting Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Pro656Thr Conflicting Single submitter
Charcot-Marie-Tooth disease
MED25 p.Val596Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 209

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 209

MED25 p.Ala251Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ala255Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Ala364Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Ala564Val Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Ala611Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Arg132His Uncertain significance Multiple submitters
MED25 p.Arg140Gln Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Arg176Trp Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Arg186Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Arg192Gln Uncertain significance Multiple submitters
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Arg466Trp Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Arg586His Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Asn397Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Gln123Pro Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gln282His Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gln310His Uncertain significance Multiple submitters
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Gln619Lys Uncertain significance Multiple submitters
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Gln83Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Gln83His Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gly136Asp Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gly233Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Gly317Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2B2
MED25 p.Gly378Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Gly404Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Gly600Glu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gly603Arg Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.His38Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ile173Thr Uncertain significance Multiple submitters
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Leu257Val Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Leu384Val Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Leu480Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2B2
MED25 p.Met367Val Uncertain significance Multiple submitters
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Pro206Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro210Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro267Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro270Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro319His Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro365Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro592Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro618Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro630Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Pro631Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro655Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro661Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro676Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro681Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro682Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro700Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro731Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ser279Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ser304Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ser321Thr Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Thr160Met Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Thr359Met Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Thr370Ala Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Thr602Met Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Thr658Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Thr96Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Val227Met Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Val245Leu Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Val2Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Val316Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Val737Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Ala11Gly Uncertain significance Single submitter
MED25 p.Ala235Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala250Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala285Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala325Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala335Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala360Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala360Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala368Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala386Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala415Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala415Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala495Val Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Ala504Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala576Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala601Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala625Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala642Ser Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Ala665Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala675Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala706Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala77Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg10Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg10Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg176Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg224Gln Uncertain significance Single submitter
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Arg509Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg509His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg538Trp Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Arg577Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg711Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn147His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn168Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn477Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn535Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn652Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asp99Asn Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Cys146Gly Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gln263Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln311Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln322Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln393His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln548Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln548Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln608Pro Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gln664Arg Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gln690His Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln707Pro Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gln83Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Glu481Gly Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Glu6Gln Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Glu79Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly105Asp Uncertain significance Single submitter
MED25 p.Gly106Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly174Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly254Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly353Ser Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly390Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly436Asp Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly49Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly560Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly561Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly609Ser Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly620Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly659Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly7Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.His38Tyr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.His435Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.His668Pro Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Ile114Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ile182Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ile306Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ile44Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ile634Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ile747Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu143Phe Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Leu169Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu257Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu265Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu568Pro Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu568Val Uncertain significance Single submitter
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Leu585Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Lys130Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Lys37Glu Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Lys413Thr Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Lys520Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Met220Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2

Predictors split 59

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

MED25 p.Arg140Trp Pathogenic/Likely pathogenic Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Arg36His Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Arg586Cys Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Glu33Gly Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Gly532Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Gly560Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Phe465Leu Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease type 2
MED25 p.Pro42Ser Uncertain significance Multiple submitters
Inborn genetic diseases
MED25 p.Pro51Ser Likely benign Multiple submitters
Charcot-Marie-Tooth disease
MED25 p.Ala115Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala115Val Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala285Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala368Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ala401Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg36Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Arg469Lys Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Asn147Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn147Thr Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn438Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Asn639Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln123Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln455Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln591Glu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gln645Arg Uncertain significance Single submitter
congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
MED25 p.Glu133Lys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly107Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly108Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly136Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly378Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly49Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly561Arg Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly567Arg Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly659Arg Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Gly716Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Gly723Asp Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu153Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu651Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu651Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Leu651Pro Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Leu98Phe Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Met470Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Met523Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Phe103Leu Conflicting Single submitter
Inborn genetic diseases
MED25 p.Phe20Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Phe57Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Phe57Ser Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Pro217Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Pro387Arg Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Pro42Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease
MED25 p.Pro87Ala Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ser366Cys Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Ser67Thr Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Thr424Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Thr503Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Tyr46Cys Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Val15Leu Uncertain significance Single submitter
Inborn genetic diseases
MED25 p.Val170Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Val183Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2
MED25 p.Val21Met Uncertain significance Single submitter
Charcot-Marie-Tooth disease type 2

All MED25 variants

Pathogenic 2

p.Pro261fs Single submitter Inborn genetic diseases
p.Tyr39Cys No assertion criteria congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Pathogenic/Likely pathogenic 1

p.Arg140Trp Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠

Likely pathogenic 5

c.820-1G>A Single submitter neurodevelopmental disorder
p.Arg647Ter Single submitter
p.Gln562fs Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Leu389fs Single submitter
p.Met1Arg Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Conflicting classifications of pathogenicity 20

c.1102-13T>G Single submitter Charcot-Marie-Tooth disease type 2
c.135-6T>G Single submitter Inborn genetic diseases
c.2146+17G>T Single submitter Charcot-Marie-Tooth disease type 2
p.Ala202fs Single submitter Charcot-Marie-Tooth disease type 2B2
p.Ala335Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg132= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg186Trp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn543fs Single submitter Charcot-Marie-Tooth disease type 2
p.Asp126Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln456Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Leu247fs Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Leu309fs Single submitter Charcot-Marie-Tooth disease type 2
p.Phe103Leu Single submitter Inborn genetic diseases ⚠
p.Pro201fs Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Pro201Leu Single submitter Inborn genetic diseases ⚠
p.Pro270Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro640fs Single submitter Charcot-Marie-Tooth disease type 2
p.Pro656Thr Single submitter Charcot-Marie-Tooth disease ⚠
p.Ser599_Ala601del Single submitter Tip-toe gait
p.Val596Ile Single submitter Inborn genetic diseases ⚠

Benign 24

c.1101+24_1101+42dup Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.1230+148C>T Multiple submitters
c.1375-55T>C Multiple submitters
c.1482+19G>A Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.1482+200A>G Multiple submitters
c.1483-7C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1674+19C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.180+108G>C Multiple submitters
c.180+227A>G Multiple submitters
c.180+238T>C Multiple submitters
c.-12A>G Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Ala677= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro78= Multiple submitters Charcot-Marie-Tooth disease
p.Thr55= Multiple submitters Charcot-Marie-Tooth disease
c.1230+177C>T Single submitter
c.1316+23del Single submitter Charcot-Marie-Tooth disease type 2
c.1317-3del Single submitter Charcot-Marie-Tooth disease type 2
c.1482+21dup Single submitter Charcot-Marie-Tooth disease type 2
c.2146+8del Single submitter Charcot-Marie-Tooth disease type 2
c.306-27del Single submitter
c.404+16A>G Single submitter Charcot-Marie-Tooth disease type 2
c.525+20_525+34del Single submitter Charcot-Marie-Tooth disease type 2
p.Phe32= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro381= Single submitter Charcot-Marie-Tooth disease type 2

Benign/Likely benign 17

c.1231-5dup Multiple submitters Charcot-Marie-Tooth disease type 2
c.1374+9C>T Multiple submitters Charcot-Marie-Tooth disease
c.1675-7C>T Multiple submitters Charcot-Marie-Tooth disease type 2B2
c.2146+19G>T Multiple submitters Charcot-Marie-Tooth disease
c.688+17G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.689-3C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.819+14C>T Multiple submitters Charcot-Marie-Tooth disease
p.Ala576Gly Multiple submitters Charcot-Marie-Tooth disease
p.Ala598= Multiple submitters Charcot-Marie-Tooth disease
p.Leu118= Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Leu457= Multiple submitters Charcot-Marie-Tooth disease
p.Leu686= Multiple submitters Charcot-Marie-Tooth disease
p.Leu696= Multiple submitters Charcot-Marie-Tooth disease
p.Lys478= Multiple submitters Charcot-Marie-Tooth disease
p.Ser354= Multiple submitters Charcot-Marie-Tooth disease
p.Ser736= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Tyr31= Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Likely benign 369

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

c.1230+7G>T Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.1231-8C>T Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.1317-16del Multiple submitters Charcot-Marie-Tooth disease type 2
c.134+20C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.135-9C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1375-58A>G Multiple submitters
c.1675-18C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.1747-19_1747-18del Multiple submitters Charcot-Marie-Tooth disease type 2
c.181-13C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.305+17T>G Multiple submitters Charcot-Marie-Tooth disease type 2
c.525+28G>A Multiple submitters
c.526-16G>A Multiple submitters Charcot-Marie-Tooth disease type 2
c.526-4A>G Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.689-27G>C Multiple submitters
c.908-17C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.908-6C>A Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala190= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala199= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg186= Multiple submitters Charcot-Marie-Tooth disease
p.Arg425= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Asn492= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys497= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Cys76= Multiple submitters Charcot-Marie-Tooth disease
p.Gln409= Multiple submitters Charcot-Marie-Tooth disease
p.Gly334= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly34= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly524= Multiple submitters Charcot-Marie-Tooth disease
p.Leu222= Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Leu226= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu257= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Leu511= Multiple submitters Charcot-Marie-Tooth disease
p.Leu679= Multiple submitters Charcot-Marie-Tooth disease
p.Phe128= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro206= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro314= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro318= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro365= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro445= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro51Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Pro588= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Pro633= Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Pro682= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr211= Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Tyr92Phe Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val230Ala Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val596= Multiple submitters Charcot-Marie-Tooth disease type 2
c.1101+14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1101+15G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1101+8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1102-10C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1102-11C>G Single submitter Charcot-Marie-Tooth disease
c.1102-14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1102-4G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1102-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1230+11dup Single submitter Charcot-Marie-Tooth disease type 2
c.1230+12G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1230+20A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1230+7G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1231-16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1231-20T>G Single submitter Charcot-Marie-Tooth disease type 2
c.1231-6C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1316+12T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1316+14_1316+15del Single submitter Charcot-Marie-Tooth disease type 2
c.1316+18G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1316+19C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1316+20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1316+20G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1316+8A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1317-19C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1317-20T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1317-7C>A Single submitter Charcot-Marie-Tooth disease type 2
c.1317-8G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1317-8G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1317-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.134+14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.134+15C>T Single submitter Charcot-Marie-Tooth disease type 2
c.134+17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.134+19A>G Single submitter Charcot-Marie-Tooth disease
c.134+8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.135-11T>C Single submitter Charcot-Marie-Tooth disease type 2
c.135-12C>G Single submitter Charcot-Marie-Tooth disease type 2
c.135-12C>T Single submitter Charcot-Marie-Tooth disease type 2
c.135-14T>C Single submitter Charcot-Marie-Tooth disease type 2
c.135-15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.135-15T>G Single submitter Charcot-Marie-Tooth disease type 2
c.135-17A>G Single submitter Charcot-Marie-Tooth disease type 2
c.135-4A>G Single submitter Charcot-Marie-Tooth disease type 2
c.135-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1374+10G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1374+18G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1375-10T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1375-15C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1375-16T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1375-20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1375-4G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1375-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1375-5dup Single submitter Charcot-Marie-Tooth disease type 2
c.1375-7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1482+12G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1482+14A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1482+16G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1482+17G>A Single submitter Charcot-Marie-Tooth disease
c.1482+18G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1482+20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1482+9A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1483-13G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1674+17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1674+19C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1674+8T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1675-4G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1675-6G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1746+10G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1746+17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1746+18G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1746+20G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1746+9A>G Single submitter Charcot-Marie-Tooth disease type 2
c.1747-13C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1747-14dup Single submitter Charcot-Marie-Tooth disease type 2
c.1747-15G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1747-18del Single submitter Charcot-Marie-Tooth disease type 2
c.1747-18T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1747-20C>T Single submitter Charcot-Marie-Tooth disease type 2
c.180+17C>G Single submitter Charcot-Marie-Tooth disease type 2
c.181-14T>C Single submitter Charcot-Marie-Tooth disease type 2
c.181-17C>G Single submitter Charcot-Marie-Tooth disease type 2
c.181-20T>C Single submitter Charcot-Marie-Tooth disease type 2
c.181-4C>T Single submitter Charcot-Marie-Tooth disease type 2
c.181-7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.181-8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.181-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1965+14G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1965+16G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1965+16G>T Single submitter Charcot-Marie-Tooth disease type 2
c.1966-10_1966-9del Single submitter Charcot-Marie-Tooth disease type 2
c.1966-12G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1966-15T>C Single submitter Charcot-Marie-Tooth disease type 2
c.1966-17T>A Single submitter Charcot-Marie-Tooth disease type 2
c.1966-18CT[2] Single submitter Charcot-Marie-Tooth disease type 2
c.1966-5C>G Single submitter Charcot-Marie-Tooth disease type 2
c.1966-5C>T Single submitter Charcot-Marie-Tooth disease
c.2146+12C>T Single submitter Charcot-Marie-Tooth disease type 2
c.2146+13G>A Single submitter Charcot-Marie-Tooth disease type 2
c.2146+6G>A Single submitter Charcot-Marie-Tooth disease
c.2146+7G>A Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
c.2146+8G>A Single submitter Charcot-Marie-Tooth disease type 2
c.2146+9A>C Single submitter Charcot-Marie-Tooth disease type 2
c.2147-13C>T Single submitter Charcot-Marie-Tooth disease type 2
c.2147-16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.2147-19C>T Single submitter Charcot-Marie-Tooth disease type 2
c.2147-8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.305+14C>G Single submitter Charcot-Marie-Tooth disease type 2
c.305+14C>T Single submitter Charcot-Marie-Tooth disease type 2
c.305+15A>G Single submitter Charcot-Marie-Tooth disease type 2
c.305+7T>C Single submitter Charcot-Marie-Tooth disease type 2
c.306-10del Single submitter Charcot-Marie-Tooth disease type 2
c.306-15G>A Single submitter Charcot-Marie-Tooth disease type 2
c.306-16C>A Single submitter Charcot-Marie-Tooth disease type 2
c.306-16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.306-6C>T Single submitter Charcot-Marie-Tooth disease type 2
c.306-7C>T Single submitter Charcot-Marie-Tooth disease type 2
c.306-9C>T Single submitter Charcot-Marie-Tooth disease type 2
c.404+12dup Single submitter Charcot-Marie-Tooth disease type 2
c.405-12C>T Single submitter Charcot-Marie-Tooth disease type 2
c.405-16C>A Single submitter Charcot-Marie-Tooth disease type 2
c.405-18T>C Single submitter Charcot-Marie-Tooth disease type 2
c.405-20T>A Single submitter Charcot-Marie-Tooth disease type 2
c.405-4G>A Single submitter Charcot-Marie-Tooth disease type 2
c.405-5G>C Single submitter Charcot-Marie-Tooth disease type 2
c.405-6T>C Single submitter Charcot-Marie-Tooth disease type 2
c.405-8C>A Single submitter Charcot-Marie-Tooth disease type 2
c.525+11C>T Single submitter Charcot-Marie-Tooth disease type 2
c.525+12A>G Single submitter Charcot-Marie-Tooth disease type 2
c.526-11C>T Single submitter Charcot-Marie-Tooth disease type 2
c.526-13C>G Single submitter Charcot-Marie-Tooth disease type 2
c.526-13C>T Single submitter Charcot-Marie-Tooth disease type 2
c.526-17C>T Single submitter Charcot-Marie-Tooth disease type 2
c.526-19C>T Single submitter Charcot-Marie-Tooth disease type 2
c.688+14A>G Single submitter Charcot-Marie-Tooth disease type 2
c.688+16C>T Single submitter Charcot-Marie-Tooth disease type 2
c.688+20C>T Single submitter Charcot-Marie-Tooth disease type 2
c.688+8C>T Single submitter Charcot-Marie-Tooth disease type 2
c.689-10C>T Single submitter Charcot-Marie-Tooth disease type 2
c.689-11C>T Single submitter Charcot-Marie-Tooth disease type 2
c.689-18C>T Single submitter Charcot-Marie-Tooth disease type 2
c.689-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.819+15G>A Single submitter Charcot-Marie-Tooth disease type 2
c.819+19A>G Single submitter Charcot-Marie-Tooth disease type 2
c.819+7A>G Single submitter Charcot-Marie-Tooth disease type 2
c.819+9A>G Single submitter Charcot-Marie-Tooth disease type 2
c.820-10C>T Single submitter Charcot-Marie-Tooth disease type 2
c.820-11T>G Single submitter Charcot-Marie-Tooth disease type 2
c.820-12T>C Single submitter Charcot-Marie-Tooth disease type 2
c.820-14C>G Single submitter Charcot-Marie-Tooth disease type 2
c.820-16_820-9del Single submitter Charcot-Marie-Tooth disease type 2
c.820-4A>G Single submitter Charcot-Marie-Tooth disease type 2
c.820-5C>T Single submitter Charcot-Marie-Tooth disease type 2
c.820-5del Single submitter Charcot-Marie-Tooth disease type 2
p.Ala115= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala16= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala198= Single submitter
p.Ala235= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala250= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala26= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala281= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala284= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala285= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala297= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala313= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala323= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala351= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala360= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala372= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala386= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala401= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala504= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala564= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala611= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala625= Single submitter Charcot-Marie-Tooth disease type 2
p.Ala91= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg218= Single submitter
p.Arg509= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg577= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg636= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn27= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn535= Single submitter Charcot-Marie-Tooth disease type 2
p.Asn652= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp479= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp56= Single submitter Charcot-Marie-Tooth disease
p.Asp574= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp740= Single submitter Charcot-Marie-Tooth disease type 2
p.Asp745= Single submitter Charcot-Marie-Tooth disease type 2
p.Cys146= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln392= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln472= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln562= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln608= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln619= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln657= Single submitter Charcot-Marie-Tooth disease type 2
p.Gln707= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu196= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu507= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly105= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly12= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly163= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly29= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly315= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly355= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly369= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly390= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly404= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly50= Single submitter
p.Gly58= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly62= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly63= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly685= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly687= Single submitter Charcot-Marie-Tooth disease type 2
p.His38= Single submitter Charcot-Marie-Tooth disease type 2
p.His499= Single submitter Charcot-Marie-Tooth disease type 2
p.His85= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile114= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile453= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile634= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile742= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu113= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu124= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu144= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu152= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu194= Single submitter Charcot-Marie-Tooth disease
p.Leu204= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu247= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu265= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu299= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu346= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu35= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu356= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu389= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu400= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu41= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu427= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu568= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu583= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu585= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu650= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu651= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu691= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu695= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu720= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu733= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu98= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys296= Single submitter Charcot-Marie-Tooth disease type 2
p.Lys422= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe465= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe533= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe71= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro149= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro200= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro201= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro210= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro217= Single submitter Charcot-Marie-Tooth disease type 2
p.Pro249= Single submitter Charcot-Marie-Tooth disease type 2

Uncertain significance 342

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

c.1101+4G>A Multiple submitters Inborn genetic diseases
c.135-3C>T Multiple submitters Charcot-Marie-Tooth disease type 2
c.908-3_908-2del Multiple submitters Charcot-Marie-Tooth disease
p.Ala190Val Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala251Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ala255Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala364Thr Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Ala401Val Multiple submitters Charcot-Marie-Tooth disease type 2
p.Ala564Val Multiple submitters Inborn genetic diseases ⚠
p.Ala611Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg132His Multiple submitters ⚠
p.Arg140Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg176Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg186Gln Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg192Gln Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Arg192Trp Multiple submitters Charcot-Marie-Tooth disease type 2
p.Arg302Cys Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Arg36His Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Arg466Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg586Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg586His Multiple submitters Inborn genetic diseases ⚠
p.Asn397Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gln123Pro Multiple submitters Inborn genetic diseases ⚠
p.Gln282His Multiple submitters Inborn genetic diseases ⚠
p.Gln310His Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Gln383_Ala388dup Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln593fs Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gln619Lys Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Gln83Glu Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gln83His Multiple submitters Inborn genetic diseases ⚠
p.Glu33Gly Multiple submitters Inborn genetic diseases ⚠
p.Gly136Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly233Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly315Arg Multiple submitters Inborn genetic diseases
p.Gly317Cys Multiple submitters Charcot-Marie-Tooth disease type 2B2 ⚠
p.Gly378Ser Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly404Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly436= Multiple submitters Charcot-Marie-Tooth disease type 2
p.Gly532Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Gly560Arg Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Gly561del Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Gly600Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly603Arg Multiple submitters Inborn genetic diseases ⚠
p.His38Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ile173Thr Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Leu257Val Multiple submitters Inborn genetic diseases ⚠
p.Leu384Val Multiple submitters Inborn genetic diseases ⚠
p.Leu480Val Multiple submitters Charcot-Marie-Tooth disease type 2B2 ⚠
p.Met367Val Multiple submitters congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Phe465Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro206Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro210Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro267Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro270Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro319His Multiple submitters Inborn genetic diseases ⚠
p.Pro365Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro42Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro592Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro618Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro630Leu Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Pro631Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro655Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro661Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro676Thr Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro681Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro682Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Pro700Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro731Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser279Asn Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser304Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Ser321Thr Multiple submitters Inborn genetic diseases ⚠
p.Thr138Met Multiple submitters Charcot-Marie-Tooth disease type 2
p.Thr160Met Multiple submitters Inborn genetic diseases ⚠
p.Thr359Met Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr370Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr602Met Multiple submitters Inborn genetic diseases ⚠
p.Thr658Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Thr96Ala Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val227Met Multiple submitters Inborn genetic diseases ⚠
p.Val245Leu Multiple submitters Inborn genetic diseases ⚠
p.Val268fs Multiple submitters Charcot-Marie-Tooth disease type 2
p.Val2Leu Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
p.Val316Gly Multiple submitters Inborn genetic diseases ⚠
p.Val737Ile Multiple submitters Charcot-Marie-Tooth disease type 2 ⚠
c.1101+1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1230+5G>C Single submitter Charcot-Marie-Tooth disease type 2
c.1230+6G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1231-3C>T Single submitter Charcot-Marie-Tooth disease type 2
c.1316+1G>A Single submitter Charcot-Marie-Tooth disease type 2
c.1317-3C>T Single submitter Charcot-Marie-Tooth disease type 2
c.135-1G>A Single submitter Charcot-Marie-Tooth disease
c.1483-5C>G Single submitter Charcot-Marie-Tooth disease type 2
c.181-1G>C Single submitter Charcot-Marie-Tooth disease type 2
c.2147-3C>T Single submitter Charcot-Marie-Tooth disease type 2
c.306-6dup Single submitter Inborn genetic diseases
c.404+4A>C Single submitter Charcot-Marie-Tooth disease type 2
c.525+6G>A Single submitter Charcot-Marie-Tooth disease type 2
c.526-3C>T Single submitter Charcot-Marie-Tooth disease type 2
c.907+1G>A Single submitter
p.605PQ[3] Single submitter Charcot-Marie-Tooth disease type 2
p.Ala115Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala115Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala11Gly Single submitter ⚠
p.Ala235Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala250Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala285Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala285Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala325Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala335Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala360Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala360Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala368Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala368Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala386Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala401Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala415Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala415Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala495Val Single submitter Inborn genetic diseases ⚠
p.Ala504Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala576Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala601fs Single submitter Charcot-Marie-Tooth disease type 2
p.Ala601Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala625Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala642Ser Single submitter Inborn genetic diseases ⚠
p.Ala665Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala675Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala677del Single submitter Charcot-Marie-Tooth disease type 2
p.Ala706Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ala77Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg10Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg10Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg176Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg192Leu Single submitter Inborn genetic diseases
p.Arg224Gln Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Arg302= Single submitter Charcot-Marie-Tooth disease type 2
p.Arg36Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg469Lys Single submitter Inborn genetic diseases ⚠
p.Arg509Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg509His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg538Trp Single submitter Inborn genetic diseases ⚠
p.Arg577Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Arg711Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn147His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn147Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn147Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn168Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn438Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn477Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn535Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn639Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asn652Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Asp99Asn Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Cys146Gly Single submitter Inborn genetic diseases ⚠
p.Cys506_Glu507delinsTer Single submitter Charcot-Marie-Tooth disease type 2
p.Gln123Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln262Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln263Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln263Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln311Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln322Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln383_Ala388del Single submitter Charcot-Marie-Tooth disease type 2
p.Gln393His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln430Glu Single submitter Charcot-Marie-Tooth disease type 2
p.Gln455Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln539Glu Single submitter Charcot-Marie-Tooth disease type 2
p.Gln548Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln548Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln591Glu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln608Pro Single submitter Inborn genetic diseases ⚠
p.Gln638Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln645Arg Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Gln664Arg Single submitter Inborn genetic diseases ⚠
p.Gln690fs Single submitter Charcot-Marie-Tooth disease type 2
p.Gln690His Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gln707Pro Single submitter Inborn genetic diseases ⚠
p.Gln734Ter Single submitter Charcot-Marie-Tooth disease type 2
p.Gln83Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu133Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu175= Single submitter Charcot-Marie-Tooth disease type 2
p.Glu481Gly Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu6_Ser13del Single submitter Charcot-Marie-Tooth disease type 2
p.Glu6Gln Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Glu79Lys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly105Asp Single submitter ⚠
p.Gly106Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly107Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly107fs Single submitter Charcot-Marie-Tooth disease type 2
p.Gly108Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly136Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly174Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly233del Single submitter Charcot-Marie-Tooth disease type 2
p.Gly254Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly353Ser Single submitter Inborn genetic diseases ⚠
p.Gly369Asp Single submitter Inborn genetic diseases
p.Gly378Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly390Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly436Asp Single submitter Inborn genetic diseases ⚠
p.Gly485= Single submitter Charcot-Marie-Tooth disease type 2
p.Gly49Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly49Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly560Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly561Arg Single submitter Inborn genetic diseases ⚠
p.Gly561Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly567Arg Single submitter Inborn genetic diseases ⚠
p.Gly609Ser Single submitter Inborn genetic diseases ⚠
p.Gly620Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly659Arg Single submitter Inborn genetic diseases ⚠
p.Gly659Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly687Glu Single submitter Charcot-Marie-Tooth disease type 2
p.Gly716Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly716fs Single submitter Charcot-Marie-Tooth disease type 2
p.Gly723Asp Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Gly7Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His38Tyr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His435Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.His502fs Single submitter Charcot-Marie-Tooth disease type 2
p.His668Pro Single submitter Inborn genetic diseases ⚠
p.Ile114Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile135= Single submitter Charcot-Marie-Tooth disease type 2
p.Ile182Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile306Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile44Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile634Val Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Ile747Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu143Phe Single submitter Inborn genetic diseases ⚠
p.Leu153Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu169Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu257Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu265Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu35fs Single submitter Charcot-Marie-Tooth disease type 2
p.Leu458= Single submitter Charcot-Marie-Tooth disease type 2
p.Leu464fs Single submitter Charcot-Marie-Tooth disease type 2
p.Leu480fs Single submitter Charcot-Marie-Tooth disease type 2
p.Leu552_Gln554del Single submitter Charcot-Marie-Tooth disease type 2
p.Leu568Pro Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu568Val Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Leu585Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu650fs Single submitter
p.Leu651Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu651fs Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
p.Leu651Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Leu651Pro Single submitter Inborn genetic diseases ⚠
p.Leu98Phe Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys130Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Lys37Glu Single submitter Inborn genetic diseases ⚠
p.Lys413Thr Single submitter Inborn genetic diseases ⚠
p.Lys520Met Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met104Thr Single submitter Charcot-Marie-Tooth disease type 2
p.Met131_Arg132delinsIleCys Single submitter Charcot-Marie-Tooth disease type 2
p.Met220Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met450Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met470Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met523Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Met559Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe20Ile Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe320Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe320Val Single submitter ⚠
p.Phe47fs Single submitter Charcot-Marie-Tooth disease type 2
p.Phe494= Single submitter Charcot-Marie-Tooth disease type 2
p.Phe522fs Single submitter Charcot-Marie-Tooth disease type 2
p.Phe57Cys Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Phe57Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro150fs Single submitter Charcot-Marie-Tooth disease type 2
p.Pro201Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro201Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro217Gln Single submitter Inborn genetic diseases
p.Pro217Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro248Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro252Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro266Leu Single submitter Inborn genetic diseases ⚠
p.Pro270del Single submitter Charcot-Marie-Tooth disease
p.Pro275Leu Single submitter Inborn genetic diseases ⚠
p.Pro30Leu Single submitter Inborn genetic diseases ⚠
p.Pro319Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro319Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro336Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro352Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro373Leu Single submitter Inborn genetic diseases ⚠
p.Pro381Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro387Arg Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro42Leu Single submitter Charcot-Marie-Tooth disease ⚠
p.Pro463Arg Single submitter congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome ⚠
p.Pro501Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro565Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro566fs Single submitter Charcot-Marie-Tooth disease type 2
p.Pro588Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro588Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro590Ser Single submitter Charcot-Marie-Tooth disease type 2
p.Pro614Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro618Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro621Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro629Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro630Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro630Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro637Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro656Leu Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro689Ser Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro699Ala Single submitter Charcot-Marie-Tooth disease type 2 ⚠
p.Pro700fs Single submitter Charcot-Marie-Tooth disease type 2
p.Pro705Thr Single submitter Charcot-Marie-Tooth disease type 2 ⚠