LITAF — 300 ClinVar variants
All ClinVar germline LITAF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 20 Conflicting · 50 Benign · 9 Benign/Likely benign · 66 Likely benign · 147 Uncertain significance
Full LITAF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LITAF p.Ala111Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Ala9Thr
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala9Val
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Arg160Cys
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asn150His
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Lys101Arg
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Pro51Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Ser15Leu
Conflicting
Single submitter
Charcot-Marie-Tooth disease
-
LITAF p.Thr49Met
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Val138Met
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Val76Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LITAF p.Ala129Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LITAF p.Ala140Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala153Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala153Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LITAF p.Arg160His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
LITAF p.Arg90His
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
LITAF p.Asn30Tyr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asn70Ser
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asp143Glu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys137Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LITAF p.Leu124Pro
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro34Thr
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro67Ser
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease
-
LITAF p.Pro91Arg
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Val29Ile
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
- LITAF p.Ala10Ser Uncertain significance Single submitter
-
LITAF p.Ala113Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LITAF p.Ala129Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala16Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala19Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala28Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala38Thr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala66Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Ala9Glu Uncertain significance Single submitter
-
LITAF p.Asn100Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
LITAF p.Asn150Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asn72Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asp139His
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Asp143Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys123Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys137Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys137Gly
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys95Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Cys95Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly112Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly112Asp
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly120Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly130Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Gly130Ser Uncertain significance Single submitter
-
LITAF p.Gly50Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly53Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.His83Gln Uncertain significance Single submitter
-
LITAF p.His83Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
LITAF p.Ile128Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ile85Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Leu125Pro
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Phe136Leu Uncertain significance Single submitter
-
LITAF p.Phe136Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro135Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro34Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro39Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Pro41Ser Uncertain significance Single submitter
-
LITAF p.Pro58Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro58Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro69Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro6Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Pro84Ala Uncertain significance Single submitter
-
LITAF p.Pro91Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Ser118Pro Uncertain significance Single submitter
-
LITAF p.Thr115Ile
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Thr157Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Thr45Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Thr75Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Thr78Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Trp116Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Tyr33Phe Uncertain significance Single submitter
-
LITAF p.Tyr61Cys
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
- LITAF p.Tyr7Cys Uncertain significance Single submitter
-
LITAF p.Val144Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Val144Met
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease
-
LITAF p.Val48Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Val79Ala
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala140Pro
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
LITAF p.Pro135Arg
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
LITAF p.Pro135Ser
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
LITAF p.Val29Gly
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
Predictors split 22
The independent predictors disagree with each other — read with care.
-
LITAF p.Gly112Ser
Pathogenic
Multiple submitters
LITAF-related disorders
-
LITAF p.Gly42Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LITAF p.Met94Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LITAF p.Ser2Leu
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Tyr80Cys
Uncertain significance
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Val81Met
Likely benign
Multiple submitters
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Ala19Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Arg90Cys
Conflicting
Single submitter
hereditary ataxia
-
LITAF p.Cys123Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- LITAF p.Cys127Tyr Uncertain significance Single submitter
-
LITAF p.Cys131Tyr
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gln77Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly130Cys
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Gly53Arg
Conflicting
Single submitter
Inborn genetic diseases
-
LITAF p.Leu114Val
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Leu161Phe
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro17Gln
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro17Leu
Conflicting
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro59Arg
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Pro91Ser
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Val81Leu
Uncertain significance
Single submitter
Charcot-Marie-Tooth disease type 1C
-
LITAF p.Leu122Val
Pathogenic
No assertion criteria
Charcot-Marie-Tooth disease type 1C
All LITAF variants
Pathogenic 5
- p.Ala111Gly Multiple submitters Charcot-Marie-Tooth disease
- p.Gly112Ser Multiple submitters LITAF-related disorders ⚠
- p.Pro135Thr Single submitter Charcot-Marie-Tooth disease type 1C
- p.Trp116Gly Single submitter Charcot-Marie-Tooth disease type 1C
- p.Leu122Val No assertion criteria Charcot-Marie-Tooth disease type 1C ⚠
Pathogenic/Likely pathogenic 1
- p.Thr115Asn Multiple submitters Charcot-Marie-Tooth disease type 1C
Likely pathogenic 2
- p.Pro135Ala Single submitter Charcot-Marie-Tooth disease type 1C
- p.Thr78Ser Single submitter Tip-toe gait
Conflicting classifications of pathogenicity 20
- c.378-7C>T Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala111Thr Single submitter Inborn genetic diseases ⚠
- p.Ala19Thr Single submitter Inborn genetic diseases ⚠
- p.Ala9Thr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala9Val Single submitter Inborn genetic diseases ⚠
- p.Arg160Cys Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Arg90Cys Single submitter hereditary ataxia ⚠
- p.Asn150His Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly130Cys Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly53= Single submitter Inborn genetic diseases
- p.Gly53Arg Single submitter Inborn genetic diseases ⚠
- p.Lys101Arg Single submitter Inborn genetic diseases ⚠
- p.Lys159= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Pro17Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro51Ser Single submitter Inborn genetic diseases ⚠
- p.Ser15Leu Single submitter Charcot-Marie-Tooth disease ⚠
- p.Thr49Met Single submitter Inborn genetic diseases ⚠
- p.Val104Met Single submitter Inborn genetic diseases
- p.Val138Met Single submitter Inborn genetic diseases ⚠
- p.Val76Met Single submitter Inborn genetic diseases ⚠
Benign 50
- c.220+276T>A Multiple submitters
- c.220+310A>G Multiple submitters
- c.220+42C>T Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.221-131C>T Multiple submitters
- c.377+1557C>T Multiple submitters
- c.377+1660G>A Multiple submitters
- c.377+1760C>T Multiple submitters
- c.377+1763A>G Multiple submitters
- c.377+1869G>T Multiple submitters
- c.378-126C>T Multiple submitters
- c.378-255C>T Multiple submitters
- c.378-295C>T Multiple submitters
- c.378-30C>T Multiple submitters
- c.-6+474T>C Multiple submitters
- c.-6+594A>G Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.*1251A>G Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.*143C>T Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.*421C>T Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.*439G>A Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.*796T>C Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Ile92Val Multiple submitters Charcot-Marie-Tooth disease
- p.Thr78= Multiple submitters Charcot-Marie-Tooth disease
- c.221-201G>A Single submitter
- c.221-229_221-228del Single submitter
- c.377+1435C>T Single submitter
- c.377+1455A>G Single submitter
- c.377+1611_377+1612del Single submitter
- c.377+1612del Single submitter
- c.377+1652del Single submitter
- c.377+1684_377+1687dup Single submitter
- c.377+1685_377+1688dup Single submitter
- c.377+1686_377+1687insACTC Single submitter
- c.377+1782C>T Single submitter
- c.377+1859dup Single submitter
- c.377+1869del Single submitter
- c.377+1870dup Single submitter
- c.377+279T>G Single submitter
- c.-5-296G>A Single submitter
- c.-5-338dup Single submitter
- c.-6+558C>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.-6+919A>G Single submitter
- c.*1415C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1493T>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1627G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1632C>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*453C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*711G>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.*816T>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*904G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*933C>T Single submitter Charcot-Marie-Tooth disease type 1C
Benign/Likely benign 9
- c.377+13C>G Multiple submitters Charcot-Marie-Tooth disease type 1C
- c.377+3G>A Multiple submitters Charcot-Marie-Tooth disease
- c.*99C>T Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Ala111= Multiple submitters Inborn genetic diseases
- p.Ala9= Multiple submitters Inborn genetic diseases
- p.Asn110= Multiple submitters Charcot-Marie-Tooth disease
- p.Cys119= Multiple submitters Charcot-Marie-Tooth disease
- p.Pro36= Multiple submitters Inborn genetic diseases
- p.Ser2= Multiple submitters Inborn genetic diseases
Likely benign 66
- c.220+65T>C Multiple submitters
- c.221-16C>T Multiple submitters Charcot-Marie-Tooth disease
- c.377+1867T>G Multiple submitters
- p.Ala129= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Asp143= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Cys123= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Leu161= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Met94Val Multiple submitters Inborn genetic diseases
- p.Pro17= Multiple submitters Inborn genetic diseases
- p.Pro34= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Ser15= Multiple submitters Inborn genetic diseases
- p.Ser18= Multiple submitters Inborn genetic diseases
- p.Thr11Ile Multiple submitters Inborn genetic diseases
- p.Thr45= Multiple submitters Inborn genetic diseases
- p.Thr49= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Thr75= Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Tyr80= Multiple submitters Inborn genetic diseases
- p.Val81Met Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- c.220+12del Single submitter Charcot-Marie-Tooth disease type 1C
- c.221-147A>C Single submitter
- c.377+10C>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.377+11C>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.377+1594A>G Single submitter
- c.377+15C>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.377+1716C>T Single submitter
- c.377+1747G>A Single submitter
- c.377+1792G>A Single submitter
- c.377+17C>G Single submitter
- c.377+1801A>C Single submitter
- c.377+261C>T Single submitter
- c.377+297A>G Single submitter
- c.378-1794G>C Single submitter
- c.378-194G>A Single submitter
- c.378-22GT[2] Single submitter Charcot-Marie-Tooth disease type 1C
- c.378-27G>A Single submitter
- c.-5-16T>G Single submitter
- c.-5-183C>G Single submitter
- c.-5-196T>A Single submitter
- c.-6+681dup Single submitter
- c.*1853A>G Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala113= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala140= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala66= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Arg90= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Cys127= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Cys137= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Cys95= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Gly156= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ile103= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Leu117= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Leu122= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Leu124= Single submitter
- p.Leu154= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Phe133= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Pro13= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Pro4= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Pro43= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Pro73Ser Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ser14= Single submitter
- p.Ser60Leu Single submitter Charcot-Marie-Tooth disease type 1C
- p.Tyr109= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Tyr32= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Tyr33= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Val79= Single submitter Charcot-Marie-Tooth disease type 1C
- p.Val81= Single submitter Charcot-Marie-Tooth disease type 1C
- c.378-17TC[6] No assertion criteria LITAF-related disorder
Uncertain significance 147
- c.220+4C>T Multiple submitters Inborn genetic diseases
- p.Ala129Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala140Thr Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala153Thr Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala153Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg160His Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Arg90His Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Asn30Tyr Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Asn70Ser Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Asp143Glu Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys137Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gly42Trp Multiple submitters Inborn genetic diseases ⚠
- p.Leu124Pro Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Met94Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro34Thr Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro67Ser Multiple submitters Charcot-Marie-Tooth disease ⚠
- p.Pro84Leu Multiple submitters Charcot-Marie-Tooth disease type 1C
- p.Pro91Arg Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Ser2Leu Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Thr78Met Multiple submitters Inborn genetic diseases
- p.Tyr80Cys Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- p.Val29Ile Multiple submitters Charcot-Marie-Tooth disease type 1C ⚠
- c.377+9G>C Single submitter
- c.378-3C>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.-6+513G>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.-6+539G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.-6+618C>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.-6+657C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1054A>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1170A>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1217A>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1364A>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1386G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1399C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1422A>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1436T>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1557C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*185T>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.*1879A>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*192C>T Single submitter
- c.*193G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*234C>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*294A>T Single submitter Charcot-Marie-Tooth disease type 1C
- c.*33G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*500A>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*52T>A Single submitter
- c.*563A>C Single submitter Charcot-Marie-Tooth disease type 1C
- c.*598G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*723A>G Single submitter Charcot-Marie-Tooth disease type 1C
- c.*882G>A Single submitter Charcot-Marie-Tooth disease type 1C
- c.*949A>G Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala10Ser Single submitter ⚠
- p.Ala111Val Single submitter Charcot-Marie-Tooth disease type 1C
- p.Ala113Val Single submitter Inborn genetic diseases ⚠
- p.Ala129Thr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala16Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala19Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala28Thr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala38Thr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala66Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ala9Glu Single submitter ⚠
- p.Asn100Ser Single submitter Inborn genetic diseases ⚠
- p.Asn110_Ala111insAsn Single submitter Charcot-Marie-Tooth disease type 1C
- p.Asn150Lys Single submitter Charcot-Marie-Tooth disease type 1C
- p.Asn150Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Asn72Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Asp139His Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Asp143Tyr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys123Trp Single submitter Inborn genetic diseases ⚠
- p.Cys123Tyr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys127Tyr Single submitter ⚠
- p.Cys131Tyr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys137Arg Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys137Gly Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys95Arg Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Cys95Tyr Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gln142Glu Single submitter Charcot-Marie-Tooth disease type 1C
- p.Gln142Ter Single submitter Charcot-Marie-Tooth disease type 1C
- p.Gln77Arg Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly112Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly112Asp Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly120Arg Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly130Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly130Ser Single submitter ⚠
- p.Gly50Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly53Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Gly55= Single submitter Charcot-Marie-Tooth disease type 1C
- p.His83Gln Single submitter ⚠
- p.His83Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile128Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ile85Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Leu114Val Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Leu125Pro Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Leu155= Single submitter
- p.Leu161Phe Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Met1Ile Single submitter Charcot-Marie-Tooth disease type 1C
- p.Met56fs Single submitter Charcot-Marie-Tooth disease type 1C
- p.Phe136Leu Single submitter ⚠
- p.Phe136Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro135Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro17Gln Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro34Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro39Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro41Ser Single submitter ⚠
- p.Pro58Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro58Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro59Arg Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro69Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro6Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro84Ala Single submitter ⚠
- p.Pro91Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Pro91Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Ser118Pro Single submitter ⚠
- p.Ser121Ile Single submitter
- p.Thr115Ile Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Thr157Ser Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Thr26Ile Single submitter
- p.Thr45fs Single submitter Charcot-Marie-Tooth disease type 1C
- p.Thr45Met Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Thr75Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Thr78Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Trp116Cys Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Tyr158Cys Single submitter Charcot-Marie-Tooth disease type 1C
- p.Tyr33Phe Single submitter ⚠
- p.Tyr61Cys Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Tyr7Cys Single submitter ⚠
- p.Val104Leu Single submitter Charcot-Marie-Tooth disease type 1C
- p.Val138Leu Single submitter
- p.Val144Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Val144Met Single submitter Charcot-Marie-Tooth disease ⚠
- p.Val48Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Val76Leu Single submitter Charcot-Marie-Tooth disease type 1C
- p.Val79Ala Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- p.Val81Leu Single submitter Charcot-Marie-Tooth disease type 1C ⚠
- c.377+1760_377+1763inv No assertion criteria Charcot-Marie-Tooth disease type 1
- c.378-48C>A No assertion criteria Charcot-Marie-Tooth disease
- c.*116C>A No assertion criteria distal hereditary motor neuropathy
- c.*138G>C No assertion criteria distal hereditary motor neuropathy
- c.*24C>A No assertion criteria Charcot-Marie-Tooth disease
- c.*48C>T No assertion criteria Charcot-Marie-Tooth disease
- p.Ala140Pro No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Gly112fs No assertion criteria distal hereditary motor neuropathy
- p.Ile74= No assertion criteria
- p.Lys101fs No assertion criteria Charcot-Marie-Tooth disease type 1
- p.Pro135Arg No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Pro135Ser No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Val29Gly No assertion criteria Charcot-Marie-Tooth disease ⚠