TRPV3 — 500 ClinVar variants
All ClinVar germline TRPV3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →
8 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 19 Conflicting · 142 Benign · 19 Benign/Likely benign · 71 Likely benign · 237 Uncertain significance
Full TRPV3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 178
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TRPV3 p.Ala354Val Conflicting Single submitter
-
TRPV3 p.Arg319Cys
Conflicting
Single submitter
Inborn genetic diseases
-
TRPV3 p.Arg319Leu
Conflicting
Single submitter
Inborn genetic diseases
-
TRPV3 p.Arg371Gln
Conflicting
Single submitter
Inborn genetic diseases
-
TRPV3 p.Arg693His
Conflicting
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Glu725Lys
Conflicting
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met431Ile
Conflicting
Single submitter
Inborn genetic diseases
-
TRPV3 p.Val127Ala
Conflicting
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Val552Met
Conflicting
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
- TRPV3 p.Val577Phe Conflicting Single submitter
Predictors lean, ClinVar uncertain 122
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TRPV3 p.Ala543Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Arg690Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Arg733Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Gln286Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Gln529Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Glu7Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Glu7Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRPV3 p.Leu669Pro Uncertain significance Multiple submitters
-
TRPV3 p.Met159Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Phe569Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Pro31Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Thr397Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRPV3 p.Val531Ala Uncertain significance Multiple submitters
-
TRPV3 p.Val746Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Ala105Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Ala17Pro Uncertain significance Single submitter
- TRPV3 p.Ala17Ser Uncertain significance Single submitter
- TRPV3 p.Ala194Pro Uncertain significance Single submitter
- TRPV3 p.Ala218Thr Uncertain significance Single submitter
-
TRPV3 p.Ala218Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala232Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala236Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala245Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Ala549Thr Uncertain significance Single submitter
- TRPV3 p.Ala554Val Uncertain significance Single submitter
-
TRPV3 p.Ala675Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala778Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Arg118Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Arg118Trp Uncertain significance Single submitter
- TRPV3 p.Arg122Cys Uncertain significance Single submitter
-
TRPV3 p.Arg148Gly
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Arg148Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Arg327Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Arg363Ser Uncertain significance Single submitter
-
TRPV3 p.Arg464Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Arg464Trp Uncertain significance Single submitter
-
TRPV3 p.Arg567Gln
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Arg567Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Asn339Asp Uncertain significance Single submitter
-
TRPV3 p.Asn394Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Asn53Ser Uncertain significance Single submitter
-
TRPV3 p.Asn671Asp
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
- TRPV3 p.Asn99Lys Uncertain significance Single submitter
-
TRPV3 p.Asn99Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Asp340Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Asp400Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Asp627Asn Uncertain significance Single submitter
-
TRPV3 p.Asp91Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Cys496Tyr
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Gln255Arg
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Gln255Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gln279Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gln645Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gln87Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Gln87Lys Uncertain significance Single submitter
-
TRPV3 p.Gln90Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Glu111Gly Uncertain significance Single submitter
-
TRPV3 p.Glu196Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Glu207Lys
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Glu224Gly
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Glu783Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gly228Arg
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Gly296Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Gly486Arg Uncertain significance Single submitter
-
TRPV3 p.Gly49Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gly502Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Gly623Ser Uncertain significance Single submitter
-
TRPV3 p.His585Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ile199Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ile221Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ile324Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ile413Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Ile534Val Uncertain significance Single submitter
-
TRPV3 p.Ile637Thr
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Leu535Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Leu632Pro Uncertain significance Single submitter
-
TRPV3 p.Leu749Val
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Leu776Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys116Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys14Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys246Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys2Asn
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Lys358Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys478Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys611Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys634Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met173Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met282Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met488Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Met717Leu Uncertain significance Single submitter
-
TRPV3 p.Met717Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met8Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Phe590Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Pro23Ser Uncertain significance Single submitter
-
TRPV3 p.Pro265Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro31Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro344Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro786Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ser291Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ser518Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ser536Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Ser576Asn Uncertain significance Single submitter
- TRPV3 p.Ser98Phe Uncertain significance Single submitter
-
TRPV3 p.Thr167Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Thr209Ala Uncertain significance Single submitter
-
TRPV3 p.Thr287Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Thr290Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Thr343Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Thr35Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Thr398Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Thr427Met Uncertain significance Single submitter
-
TRPV3 p.Thr454Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Tyr390Cys Uncertain significance Single submitter
-
TRPV3 p.Tyr565Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Tyr661Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Val127Met Uncertain significance Single submitter
-
TRPV3 p.Val16Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Val385Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Val458Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Val499Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Val684Ile
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
- TRPV3 p.Val93Ala Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
-
TRPV3 p.Arg188Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Arg337His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.His417Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Leu484Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Lys705Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Phe310Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Pro753Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Thr163Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRPV3 p.Ala192Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala218Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Ala270Val
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Ala556Thr Uncertain significance Single submitter
-
TRPV3 p.Arg292Trp
Conflicting
Single submitter
Inborn genetic diseases
- TRPV3 p.Arg327Trp Likely benign Single submitter
-
TRPV3 p.Arg693Cys
Uncertain significance
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Arg73Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Asn180Lys
Conflicting
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Asn338Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Asp379Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Asp519Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gln143Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Glu257Lys Uncertain significance Single submitter
-
TRPV3 p.Glu679Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Glu741Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gly130Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gly341Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Gly573Ser
Pathogenic
Single submitter
Olmsted syndrome 1
-
TRPV3 p.Gly754Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.His417Asp Uncertain significance Single submitter
-
TRPV3 p.Leu541Ser
Conflicting
Single submitter
isolated focal non-epidermolytic palmoplantar keratoderma
-
TRPV3 p.Leu664Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Lys169Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met159Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met419Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Met672Ile
Likely pathogenic
Single submitter
TRPV3-related disorder
-
TRPV3 p.Phe524Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro463Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Pro67Ser Uncertain significance Single submitter
-
TRPV3 p.Pro753Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro86Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Pro86Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Thr264Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Trp739Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Tyr213Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRPV3 p.Tyr622His
Uncertain significance
Single submitter
Inborn genetic diseases
- TRPV3 p.Val395Met Uncertain significance Single submitter
All TRPV3 variants
Pathogenic 8
- p.Gly573Val Multiple submitters Olmsted syndrome 1
- p.Arg416Trp Single submitter
- p.Gly568Cys Single submitter
- p.Gly568Val Single submitter Olmsted syndrome 1
- p.Gly573Ser Single submitter Olmsted syndrome 1 ⚠
- p.Gln580Pro No assertion criteria isolated focal non-epidermolytic palmoplantar keratoderma
- p.Gly573Cys No assertion criteria Olmsted syndrome 1
- p.Trp692Gly No assertion criteria Olmsted syndrome 1
Pathogenic/Likely pathogenic 2
- p.Gly568Asp Multiple submitters TRPV3-related disorder
- p.Leu673Phe Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
Likely pathogenic 2
- p.Met672Ile Single submitter TRPV3-related disorder ⚠
- p.Trp692Cys Single submitter TRPV3-related disorder
Conflicting classifications of pathogenicity 19
- c.1401+4C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.1401+9G>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala354Val Single submitter ⚠
- p.Arg292Trp Single submitter Inborn genetic diseases ⚠
- p.Arg319Cys Single submitter Inborn genetic diseases ⚠
- p.Arg319Leu Single submitter Inborn genetic diseases ⚠
- p.Arg371Gln Single submitter Inborn genetic diseases ⚠
- p.Arg693His Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Arg729Ter Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Asn180Lys Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Gln645His Single submitter Inborn genetic diseases
- p.Glu725Lys Single submitter Inborn genetic diseases ⚠
- p.Leu541Ser Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Leu553= Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu657= Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Met431Ile Single submitter Inborn genetic diseases ⚠
- p.Val127Ala Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Val552Met Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Val577Phe Single submitter ⚠
Benign 142
- c.1065+16G>T Multiple submitters Olmsted syndrome 1
- c.1065+79T>C Multiple submitters
- c.1066-46T>C Multiple submitters Olmsted syndrome 1
- c.1066-52T>G Multiple submitters
- c.1066-98G>A Multiple submitters
- c.119+148A>G Multiple submitters
- c.119+272G>C Multiple submitters
- c.1402-112C>T Multiple submitters
- c.1503+13C>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.1503+154G>T Multiple submitters
- c.1503+15C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.1503+336C>T Multiple submitters
- c.1504-15C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.1504-50T>C Multiple submitters
- c.1743+50T>C Multiple submitters
- c.1744-174A>G Multiple submitters
- c.1810+84T>C Multiple submitters
- c.1811-209T>C Multiple submitters
- c.1811-222G>T Multiple submitters
- c.2198+61T>C Multiple submitters
- c.2198+62G>A Multiple submitters
- c.2199-61C>T Multiple submitters
- c.224+27T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.2278+10C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.2278+183C>T Multiple submitters
- c.2278+234T>C Multiple submitters
- c.-142G>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.-190G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.-269A>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1039T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1229G>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1533A>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1565T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1590T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1790G>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1841C>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2054A>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2093C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2115G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2272T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2352G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2437A>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2729A>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3051A>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3076A>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3154C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*656G>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*88G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*902T>G Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*940G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.*949T>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala24= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala269= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala32Gly Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala628Thr Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Arg117Gly Multiple submitters Olmsted syndrome 1
- p.Asn777= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Asp198Asn Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Asp641= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Gln90= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Gly678= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ile186= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu420= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu473Phe Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Met479Leu Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ser626= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Thr163= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Thr312= Multiple submitters Olmsted syndrome 1
- p.Val132Ala Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Val132Met Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.1065+260G>A Single submitter
- c.1066-175G>T Single submitter
- c.1066-184_1066-174dup Single submitter
- c.1066-259T>C Single submitter
- c.1066-4C>G Single submitter
- c.119+65dup Single submitter
- c.120-157C>T Single submitter
- c.1243-313A>G Single submitter
- c.1401+162A>G Single submitter
- c.1402-266C>T Single submitter
- c.1504-166C>T Single submitter
- c.1504-274G>A Single submitter
- c.1743+19C>T Single submitter
- c.2198+256C>T Single submitter
- c.2198+270del Single submitter
- c.2198+339C>T Single submitter
- c.2199-156_2199-154del Single submitter
- c.2199-238T>C Single submitter
- c.2199-34_2199-33insA Single submitter
- c.224+130T>A Single submitter
- c.224+189G>A Single submitter
- c.224+200A>G Single submitter
- c.2278+8C>T Single submitter
- c.312-208G>A Single submitter
- c.643+275T>C Single submitter
- c.643+2T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.644-242G>T Single submitter
- c.644-253A>C Single submitter
- c.-2-8T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-226G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-234C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1083A>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1424G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1485G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*186G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1950C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2014A>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2068A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2072A>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2087T>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2094G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2153A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2169C>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2477T>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2485G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2604G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2610C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2611G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2760A>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2783G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*279G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3149T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3155G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3196T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3255G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3258G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3307G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*576A>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*58C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*63C>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*64TG[1] Single submitter
- c.*84G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Arg319His Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Asp414= Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.His745= Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ile360Leu Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu551= Single submitter
- p.Pro275= Single submitter
- p.Pro344= Single submitter
- p.Ser607= Single submitter
- p.Thr476Met Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Val577Ile Single submitter
Benign/Likely benign 19
- c.119+10G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.1743+16C>T Multiple submitters
- c.1743+20G>A Multiple submitters
- c.224+8C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.2278+9G>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.2279-15T>A Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.784+11C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala348= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala349Thr Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Arg369Trp Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Asn412= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.His284= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu139= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Leu361= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Lys350= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Met320Val Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Pro786= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Thr566= Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Thr774Ile Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
Likely benign 71
- c.1402-7C>G Multiple submitters
- c.2086-5C>T Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- c.2198+10G>C Multiple submitters
- p.Ala560= Multiple submitters Inborn genetic diseases
- p.Gly558= Multiple submitters
- p.Pro31= Multiple submitters
- p.Tyr321= Multiple submitters
- c.1065+10T>C Single submitter
- c.119+15C>G Single submitter
- c.119+17C>T Single submitter
- c.119+20G>C Single submitter
- c.1242+8T>C Single submitter
- c.1743+18C>T Single submitter
- c.1811-9T>C Single submitter
- c.224+9G>A Single submitter
- c.2278+5T>C Single submitter
- c.2279-10T>A Single submitter
- c.2279-15T>G Single submitter
- c.2279-18T>C Single submitter
- c.2279-19A>G Single submitter
- c.2279-9A>T Single submitter
- c.312-10C>T Single submitter
- c.467-20A>G Single submitter
- c.644-5C>T Single submitter
- c.784+10G>A Single submitter
- c.784+4G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.785-14C>T Single submitter
- c.*1100T>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala126= Single submitter
- p.Ala17Thr Single submitter Inborn genetic diseases
- p.Ala194= Single submitter
- p.Ala778= Single submitter
- p.Arg148Gln Single submitter
- p.Arg149= Single submitter
- p.Arg327Trp Single submitter ⚠
- p.Asn22= Single submitter
- p.Asp396= Single submitter
- p.Asp82= Single submitter
- p.Glu285Lys Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Glu355Lys Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Glu741= Single submitter
- p.Gly754= Single submitter
- p.His301= Single submitter
- p.Ile25Val Single submitter
- p.Ile595= Single submitter
- p.Leu138= Single submitter
- p.Leu325= Single submitter
- p.Leu443= Single submitter
- p.Leu548= Single submitter
- p.Lys39= Single submitter
- p.Lys649Arg Single submitter
- p.Phe526= Single submitter Inborn genetic diseases
- p.Pro384= Single submitter
- p.Pro470= Single submitter
- p.Pro61= Single submitter
- p.Pro753= Single submitter
- p.Ser104= Single submitter Inborn genetic diseases
- p.Ser165= Single submitter
- p.Ser459= Single submitter
- p.Ser626Arg Single submitter
- p.Thr170= Single submitter
- p.Thr343= Single submitter
- p.Thr378= Single submitter
- p.Thr427= Single submitter
- p.Thr744= Single submitter
- p.Tyr390= Single submitter
- p.Tyr565= Single submitter
- p.Val596Met Single submitter
- p.Val9= Single submitter
- p.Tyr208= No assertion criteria TRPV3-related disorder
- p.Tyr213= No assertion criteria TRPV3-related disorder
Uncertain significance 237
- c.*207T>C Multiple submitters isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala543Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg188Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg337His Multiple submitters Inborn genetic diseases ⚠
- p.Arg690Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg733Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gln286Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln529Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu7Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu7Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly238Ser Multiple submitters Inborn genetic diseases
- p.His417Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu484Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu669Pro Multiple submitters ⚠
- p.Lys705Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met159Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe310Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe569Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro31Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro753Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr163Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr397Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val531Ala Multiple submitters ⚠
- p.Val746Ile Multiple submitters Inborn genetic diseases ⚠
- c.1066-5C>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.1242+19C>T Single submitter
- c.1242+1G>T Single submitter
- c.1243-4C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.1401+5G>T Single submitter
- c.1504-3T>C Single submitter
- c.1810+10T>A Single submitter
- c.2278+3A>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.2279-4G>A Single submitter
- c.644-13_644-12delinsAT Single submitter
- c.644-1G>A Single submitter
- c.-177C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-220G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-245G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-279T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-311A>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-313C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-318A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.-327T>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1043T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1105T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1111G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1186C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1218G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1272C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1280G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1328C>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*132G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1380T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1500C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1591_*1592insC Single submitter
- c.*1591G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1625C>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1669G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1767T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1843C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*1968A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2019A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2054A>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2296T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2365T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2391C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2432C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2490T>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2622G>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2671C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2702A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2757C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*276C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2784G>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2808C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*2895C>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3045G>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3114C>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3148G>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3295G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3340C>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*3428A>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*49C>T Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*552C>A Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*74G>C Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*837A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- c.*842A>G Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Ala105Thr Single submitter Inborn genetic diseases ⚠
- p.Ala17Pro Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala192Pro Single submitter Inborn genetic diseases ⚠
- p.Ala194Pro Single submitter ⚠
- p.Ala218Pro Single submitter Inborn genetic diseases ⚠
- p.Ala218Ser Single submitter Inborn genetic diseases
- p.Ala218Thr Single submitter ⚠
- p.Ala218Val Single submitter Inborn genetic diseases ⚠
- p.Ala232Asp Single submitter Inborn genetic diseases ⚠
- p.Ala236Val Single submitter Inborn genetic diseases ⚠
- p.Ala245Gly Single submitter Inborn genetic diseases ⚠
- p.Ala270Val Single submitter Inborn genetic diseases ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala554Val Single submitter ⚠
- p.Ala556Thr Single submitter ⚠
- p.Ala675Gly Single submitter Inborn genetic diseases ⚠
- p.Ala778Glu Single submitter Inborn genetic diseases ⚠
- p.Arg118Gln Single submitter Inborn genetic diseases ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg148Gly Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Arg148Trp Single submitter Inborn genetic diseases ⚠
- p.Arg327Gln Single submitter Inborn genetic diseases ⚠
- p.Arg363Ser Single submitter ⚠
- p.Arg464Gln Single submitter Inborn genetic diseases ⚠
- p.Arg464Trp Single submitter ⚠
- p.Arg487Ser Single submitter Inborn genetic diseases
- p.Arg567Gln Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Arg567Trp Single submitter Inborn genetic diseases ⚠
- p.Arg693Cys Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Arg73Gly Single submitter Inborn genetic diseases ⚠
- p.Arg73Trp Single submitter Inborn genetic diseases
- p.Asn338Asp Single submitter Inborn genetic diseases ⚠
- p.Asn339Asp Single submitter ⚠
- p.Asn394Thr Single submitter Inborn genetic diseases ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asn671Asp Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Asn735Asp Single submitter Inborn genetic diseases
- p.Asn99Lys Single submitter ⚠
- p.Asn99Thr Single submitter Inborn genetic diseases ⚠
- p.Asp340Asn Single submitter Inborn genetic diseases ⚠
- p.Asp379Asn Single submitter Inborn genetic diseases ⚠
- p.Asp400Gly Single submitter Inborn genetic diseases ⚠
- p.Asp519Gly Single submitter Inborn genetic diseases ⚠
- p.Asp627Asn Single submitter ⚠
- p.Asp91Glu Single submitter Inborn genetic diseases ⚠
- p.Asp92= Single submitter isolated focal non-epidermolytic palmoplantar keratoderma
- p.Cys496Tyr Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Gln143Pro Single submitter Inborn genetic diseases ⚠
- p.Gln255Arg Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Gln255Leu Single submitter Inborn genetic diseases ⚠
- p.Gln279Glu Single submitter Inborn genetic diseases ⚠
- p.Gln645Arg Single submitter Inborn genetic diseases ⚠
- p.Gln87Glu Single submitter Inborn genetic diseases ⚠
- p.Gln87Lys Single submitter ⚠
- p.Gln90Arg Single submitter Inborn genetic diseases ⚠
- p.Glu111Gly Single submitter ⚠
- p.Glu196Asp Single submitter Inborn genetic diseases ⚠
- p.Glu207Lys Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Glu224Gly Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Glu257Lys Single submitter ⚠
- p.Glu679Lys Single submitter Inborn genetic diseases ⚠
- p.Glu682Asp Single submitter Inborn genetic diseases
- p.Glu719Asp Single submitter Inborn genetic diseases
- p.Glu741Lys Single submitter Inborn genetic diseases ⚠
- p.Glu783Gly Single submitter Inborn genetic diseases ⚠
- p.Gly130Val Single submitter Inborn genetic diseases ⚠
- p.Gly228Arg Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Gly296Asp Single submitter Inborn genetic diseases ⚠
- p.Gly341Asp Single submitter Inborn genetic diseases ⚠
- p.Gly486Arg Single submitter ⚠
- p.Gly49Glu Single submitter Inborn genetic diseases ⚠
- p.Gly502Asp Single submitter Inborn genetic diseases ⚠
- p.Gly623Ser Single submitter ⚠
- p.Gly754Arg Single submitter Inborn genetic diseases ⚠
- p.His417Asp Single submitter ⚠
- p.His585Gln Single submitter Inborn genetic diseases ⚠
- p.Ile199Thr Single submitter Inborn genetic diseases ⚠
- p.Ile221Thr Single submitter Inborn genetic diseases ⚠
- p.Ile324Ser Single submitter Inborn genetic diseases ⚠
- p.Ile413Leu Single submitter Inborn genetic diseases ⚠
- p.Ile534Val Single submitter ⚠
- p.Ile637Thr Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Leu535Pro Single submitter Inborn genetic diseases ⚠
- p.Leu632Pro Single submitter ⚠
- p.Leu664Val Single submitter Inborn genetic diseases ⚠
- p.Leu749Val Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Leu776Arg Single submitter Inborn genetic diseases ⚠
- p.Lys116Thr Single submitter Inborn genetic diseases ⚠
- p.Lys14Asn Single submitter Inborn genetic diseases ⚠
- p.Lys169Arg Single submitter Inborn genetic diseases ⚠
- p.Lys246Glu Single submitter Inborn genetic diseases ⚠
- p.Lys2Asn Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Lys358Glu Single submitter Inborn genetic diseases ⚠
- p.Lys478Met Single submitter Inborn genetic diseases ⚠
- p.Lys611Met Single submitter Inborn genetic diseases ⚠
- p.Lys634Arg Single submitter Inborn genetic diseases ⚠
- p.Met159Thr Single submitter Inborn genetic diseases ⚠
- p.Met173Lys Single submitter Inborn genetic diseases ⚠
- p.Met282Lys Single submitter Inborn genetic diseases ⚠
- p.Met419Val Single submitter Inborn genetic diseases ⚠
- p.Met488Lys Single submitter Inborn genetic diseases ⚠
- p.Met717Leu Single submitter ⚠
- p.Met717Val Single submitter Inborn genetic diseases ⚠
- p.Met8Ile Single submitter Inborn genetic diseases ⚠
- p.Phe524Leu Single submitter Inborn genetic diseases ⚠
- p.Phe590Leu Single submitter Inborn genetic diseases ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro265Thr Single submitter Inborn genetic diseases ⚠
- p.Pro31Thr Single submitter Inborn genetic diseases ⚠
- p.Pro344Leu Single submitter Inborn genetic diseases ⚠
- p.Pro463Ala Single submitter Inborn genetic diseases ⚠
- p.Pro510Ser Single submitter Inborn genetic diseases
- p.Pro67Ser Single submitter ⚠
- p.Pro753Arg Single submitter Inborn genetic diseases ⚠
- p.Pro786Arg Single submitter Inborn genetic diseases ⚠
- p.Pro86Arg Single submitter Inborn genetic diseases ⚠
- p.Pro86Thr Single submitter Inborn genetic diseases ⚠
- p.Ser291Leu Single submitter Inborn genetic diseases ⚠
- p.Ser294Ter Single submitter Olmsted syndrome 1
- p.Ser518Leu Single submitter Inborn genetic diseases ⚠
- p.Ser536Pro Single submitter Inborn genetic diseases ⚠
- p.Ser576Asn Single submitter ⚠
- p.Ser98Phe Single submitter ⚠
- p.Thr167Lys Single submitter Inborn genetic diseases ⚠
- p.Thr209Ala Single submitter ⚠
- p.Thr264Met Single submitter Inborn genetic diseases ⚠
- p.Thr287Arg Single submitter Inborn genetic diseases ⚠
- p.Thr290Asn Single submitter Inborn genetic diseases ⚠
- p.Thr343Met Single submitter Inborn genetic diseases ⚠
- p.Thr35Asn Single submitter Inborn genetic diseases ⚠
- p.Thr398Ile Single submitter Inborn genetic diseases ⚠
- p.Thr427Met Single submitter ⚠
- p.Thr454Ile Single submitter Inborn genetic diseases ⚠
- p.Trp559Ter Single submitter
- p.Trp739Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr213Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr390Cys Single submitter ⚠
- p.Tyr565Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr622His Single submitter Inborn genetic diseases ⚠
- p.Tyr661Phe Single submitter Inborn genetic diseases ⚠
- p.Val127Met Single submitter ⚠
- p.Val16Ile Single submitter Inborn genetic diseases ⚠
- p.Val385Met Single submitter Inborn genetic diseases ⚠
- p.Val395Met Single submitter ⚠
- p.Val458Ile Single submitter Inborn genetic diseases ⚠
- p.Val499Leu Single submitter Inborn genetic diseases ⚠
- p.Val684Ile Single submitter isolated focal non-epidermolytic palmoplantar keratoderma ⚠
- p.Val93Ala Single submitter ⚠