KRT1 — 271 ClinVar variants
All ClinVar germline KRT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
31 Pathogenic · 5 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 6 Conflicting · 26 Benign · 14 Benign/Likely benign · 32 Likely benign · 142 Uncertain significance
Full KRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
KRT1 p.Ser233Leu
Pathogenic/Likely pathogenic
Multiple submitters
KRT1-related disorder
-
KRT1 p.Glu311Gln
Pathogenic
No assertion criteria
epidermolytic ichthyosis
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT1 p.Leu162Pro
Conflicting
Single submitter
KRT1-related disorder
-
KRT1 p.Thr328Ser
Conflicting
Single submitter
diffuse nonepidermolytic palmoplantar keratoderma
-
KRT1 p.Thr638Ala
Conflicting
Single submitter
Inborn genetic diseases
- KRT1 p.Val198Gly Conflicting Single submitter
Predictors lean, ClinVar uncertain 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT1 p.Ala436Asp
Uncertain significance
Multiple submitters
palmoplantar keratoderma, epidermolytic, 2
-
KRT1 p.Arg616Gln
Uncertain significance
Multiple submitters
ichthyosis, annular epidermolytic 1
-
KRT1 p.Arg86His
Uncertain significance
Multiple submitters
diffuse nonepidermolytic palmoplantar keratoderma
-
KRT1 p.Asp219Tyr
Uncertain significance
Multiple submitters
ichthyosis
-
KRT1 p.Gln190Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT1 p.Gln466Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT1 p.Gly556Ser
Uncertain significance
Multiple submitters
diffuse nonepidermolytic palmoplantar keratoderma
- KRT1 p.Ala303Ser Uncertain significance Single submitter
-
KRT1 p.Ala362Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ala440Thr
Uncertain significance
Single submitter
diffuse nonepidermolytic palmoplantar keratoderma
- KRT1 p.Ala474Thr Uncertain significance Single submitter
- KRT1 p.Arg251Trp Uncertain significance Single submitter
- KRT1 p.Arg267Gln Uncertain significance Single submitter
- KRT1 p.Arg267Trp Uncertain significance Single submitter
-
KRT1 p.Arg29His
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Arg343Cys Uncertain significance Single submitter
- KRT1 p.Arg343His Uncertain significance Single submitter
-
KRT1 p.Arg37His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Arg38Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Arg483Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Arg616Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Arg86Cys Uncertain significance Single submitter
-
KRT1 p.Asn166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Asn341Lys Uncertain significance Single submitter
-
KRT1 p.Asn435Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Asp170Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Asp170Tyr Uncertain significance Single submitter
-
KRT1 p.Asp248Glu
Uncertain significance
Single submitter
Abnormality of the skin
- KRT1 p.Asp346Asn Uncertain significance Single submitter
- KRT1 p.Gln204His Uncertain significance Single submitter
-
KRT1 p.Gln28Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gln363Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gln453Pro
Uncertain significance
Single submitter
diffuse nonepidermolytic palmoplantar keratoderma
- KRT1 p.Glu202Lys Uncertain significance Single submitter
-
KRT1 p.Glu370Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Gly120Asp Uncertain significance Single submitter
-
KRT1 p.Gly126Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly151Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly42Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly515Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly51Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly522Ser
Uncertain significance
Single submitter
diffuse nonepidermolytic palmoplantar keratoderma
-
KRT1 p.Gly548Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly579Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly596Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Gly597Ser Uncertain significance Single submitter
- KRT1 p.Gly606Ser Uncertain significance Single submitter
-
KRT1 p.Gly61Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly83Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ile157Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ile330Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ile361Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ile396Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ile613Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Leu161Phe Uncertain significance Single submitter
- KRT1 p.Leu214Pro Uncertain significance Single submitter
- KRT1 p.Leu337Pro Uncertain significance Single submitter
-
KRT1 p.Leu475Pro
Uncertain significance
Single submitter
KRT1-related disorder
-
KRT1 p.Ser124Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Ser233Pro Uncertain significance Single submitter
- KRT1 p.Ser338Pro Uncertain significance Single submitter
- KRT1 p.Ser410Pro Uncertain significance Single submitter
-
KRT1 p.Ser618Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Thr36Ala Uncertain significance Single submitter
-
KRT1 p.Thr36Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Thr484Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Thr638Ser
Uncertain significance
Single submitter
epidermolytic hyperkeratosis 1
- KRT1 p.Val335Asp Uncertain significance Single submitter
- KRT1 p.Val335Gly Uncertain significance Single submitter
-
KRT1 p.Val632Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 33
The independent predictors disagree with each other — read with care.
- KRT1 p.Arg432His Uncertain significance Multiple submitters
-
KRT1 p.Ser178Pro
Likely pathogenic
Multiple submitters
annular epidermolytic ichthyosis
- KRT1 p.Arg179Pro Uncertain significance Single submitter
- KRT1 p.Arg460Cys Uncertain significance Single submitter
- KRT1 p.Gln357His Uncertain significance Single submitter
-
KRT1 p.Gln374Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Glu264Gln Uncertain significance Single submitter
- KRT1 p.Gly101Ala Uncertain significance Single submitter
- KRT1 p.Gly105Val Uncertain significance Single submitter
-
KRT1 p.Gly106Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly107Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Gly117Val Uncertain significance Single submitter
-
KRT1 p.Gly137Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly137Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly520Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly526Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly540Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly543Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly573Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Gly600Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Gly95Val Uncertain significance Single submitter
- KRT1 p.Ile312Thr Likely benign Single submitter
-
KRT1 p.Ile76Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Lys364Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Met259Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Phe109Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ser568Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ser598Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Ser599Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT1 p.Ser7Phe Uncertain significance Single submitter
-
KRT1 p.Tyr482Cys
Likely pathogenic
Single submitter
epidermolytic ichthyosis
-
KRT1 p.Tyr552His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT1 p.Val176Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All KRT1 variants
Pathogenic 31
- c.1255-1G>T Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- c.591+1G>C Multiple submitters epidermolytic hyperkeratosis 1
- p.Asn188Lys Multiple submitters KRT1-related disorder
- p.Leu187Phe Multiple submitters epidermolytic hyperkeratosis 1
- c.1254+1G>A Single submitter palmoplantar keratoderma, epidermolytic, 2
- c.1255-1G>C Single submitter KRT1-related disorder
- c.591+1G>A Single submitter KRT1-related disorder
- c.591+1G>T Single submitter
- p.Arg616fs Single submitter
- p.Glu478Asp Single submitter
- p.Glu478Gln Single submitter epidermolytic hyperkeratosis 1
- p.Glu478Gly Single submitter epidermolytic hyperkeratosis 1
- p.Leu161Pro Single submitter epidermolytic ichthyosis
- p.Phe191Cys Single submitter
- p.Phe191Ile Single submitter
- p.Ser186Pro Single submitter KRT1-related disorder
- p.Tyr587fs Single submitter epidermolytic ichthyosis
- c.591+2T>A No assertion criteria diffuse nonepidermolytic palmoplantar keratoderma
- p.Ala459_Gln466del No assertion criteria diffuse nonepidermolytic palmoplantar keratoderma
- p.Glu311Gln No assertion criteria epidermolytic ichthyosis ⚠
- p.Gly519fs No assertion criteria ichthyosis hystrix of Curth-Macklin
- p.Gly526fs No assertion criteria ichthyosis hystrix of Curth-Macklin
- p.Gly537fs No assertion criteria ichthyosis hystrix of Curth-Macklin
- p.Gly543fs No assertion criteria keratosis palmoplantaris striata 3
- p.Gly621fs No assertion criteria ichthyosis hystrix of Curth-Macklin
- p.Ile479Phe No assertion criteria ichthyosis, annular epidermolytic, 2
- p.Leu187Pro No assertion criteria epidermolytic hyperkeratosis 1
- p.Leu208Pro No assertion criteria epidermolytic ichthyosis
- p.Lys74Ile No assertion criteria diffuse nonepidermolytic palmoplantar keratoderma
- p.Val155Asp No assertion criteria epidermolytic ichthyosis
- p.Val623fs No assertion criteria congenital reticular ichthyosiform erythroderma
Pathogenic/Likely pathogenic 5
- p.Asn188Ser Multiple submitters ichthyosis, annular epidermolytic, 2
- p.Ile195Asn Multiple submitters KRT1-related disorder
- p.Ile479Thr Multiple submitters annular epidermolytic ichthyosis
- p.Leu485Phe Multiple submitters keratosis palmoplantaris striata 3
- p.Ser233Leu Multiple submitters KRT1-related disorder ⚠
Likely pathogenic 15
- p.Ser178Pro Multiple submitters annular epidermolytic ichthyosis ⚠
- c.793_806+1del Single submitter
- c.806+1G>A Single submitter
- p.Ala192Pro Single submitter
- p.Ala450Asp Single submitter
- p.Asn188Ile Single submitter epidermolytic ichthyosis
- p.Asp340His Single submitter
- p.Gln4Ter Single submitter
- p.Gly594fs Single submitter
- p.Leu437Pro Single submitter
- p.Leu485His Single submitter
- p.Leu485Pro Single submitter
- p.Met339Thr Single submitter KRT1-related disorder
- p.Thr507fs Single submitter KRT1-related disorder
- p.Tyr482Cys Single submitter epidermolytic ichthyosis ⚠
Conflicting classifications of pathogenicity 6
- p.Asn26= Single submitter
- p.Gln217His Single submitter Inborn genetic diseases
- p.Leu162Pro Single submitter KRT1-related disorder ⚠
- p.Thr328Ser Single submitter diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Thr638Ala Single submitter Inborn genetic diseases ⚠
- p.Val198Gly Single submitter ⚠
Benign 26
- c.1475+16T>C Multiple submitters
- c.868-31T>C Multiple submitters
- c.963+52T>G Multiple submitters
- c.964-74T>C Multiple submitters
- c.*344C>T Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Ala454Ser Multiple submitters epidermolytic ichthyosis
- p.Arg463= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Ile25= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Lys633Arg Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Ser247= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Ser502= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Ser557_Gly563del Multiple submitters
- p.Ser557Gly Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Thr471= Multiple submitters
- p.Tyr525_Gly533del Multiple submitters
- c.1128+7G>A Single submitter
- c.591+16A>G Single submitter
- c.592-142A>G Single submitter
- c.592-147A>G Single submitter
- c.963+12A>T Single submitter
- c.-21C>T Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- c.*91T>C Single submitter epidermolytic ichthyosis
- c.*95G>A Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Gln4Glu Single submitter
- p.Gly44= Single submitter
- p.Tyr559= Single submitter diffuse nonepidermolytic palmoplantar keratoderma
Benign/Likely benign 14
- c.1511-11T>C Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- c.592-8G>A Multiple submitters epidermolytic ichthyosis
- p.99FGGGG[2] Multiple submitters
- p.Ala369= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Arg38His Multiple submitters epidermolytic ichthyosis
- p.Arg432Cys Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Arg86Ser Multiple submitters
- p.Leu345= Multiple submitters epidermolytic ichthyosis
- p.Ser254= Multiple submitters epidermolytic ichthyosis
- p.Ser344Asn Multiple submitters epidermolytic ichthyosis
- p.Ser494= Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma
- p.Tyr358= Multiple submitters epidermolytic ichthyosis
- p.Gly15= Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.His509= Single submitter diffuse nonepidermolytic palmoplantar keratoderma
Likely benign 32
- p.Arg65Trp Multiple submitters
- p.Gly546= Multiple submitters
- c.1129-15A>G Single submitter
- c.1475+14G>A Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- c.867+7A>G Single submitter
- p.Ala280= Single submitter
- p.Arg251= Single submitter
- p.Arg267= Single submitter
- p.Arg65Gln Single submitter
- p.Gln190= Single submitter
- p.Gly131= Single submitter
- p.Gly133= Single submitter
- p.Gly388= Single submitter
- p.Gly521= Single submitter
- p.Gly546Ser Single submitter
- p.Gly567= Single submitter
- p.Gly596= Single submitter
- p.Gly617= Single submitter
- p.His225Gln Single submitter Inborn genetic diseases
- p.Ile114= Single submitter
- p.Ile114Phe Single submitter Inborn genetic diseases
- p.Ile312Thr Single submitter ⚠
- p.Ile412= Single submitter
- p.Leu372= Single submitter
- p.Lys472= Single submitter
- p.Ser21= Single submitter
- p.Ser254Leu Single submitter
- p.Thr481= Single submitter
- c.-8A>C No assertion criteria KRT1-related disorder
- p.Glu379= No assertion criteria KRT1-related disorder
- p.Gly594= No assertion criteria KRT1-related disorder
- p.Ser48= No assertion criteria KRT1-related disorder
Uncertain significance 142
- p.Ala436Asp Multiple submitters palmoplantar keratoderma, epidermolytic, 2 ⚠
- p.Arg432His Multiple submitters ⚠
- p.Arg616Gln Multiple submitters ichthyosis, annular epidermolytic 1 ⚠
- p.Arg86His Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Asp219Tyr Multiple submitters ichthyosis ⚠
- p.Gln190Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln466Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly556Ser Multiple submitters diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Gly585Trp Multiple submitters Inborn genetic diseases
- p.Val80Met Multiple submitters Inborn genetic diseases
- c.1475+6G>A Single submitter
- c.1510+1G>T Single submitter
- c.*275G>A Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- c.*372G>A Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- c.*72G>T Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Ala303Ser Single submitter ⚠
- p.Ala362Thr Single submitter Inborn genetic diseases ⚠
- p.Ala440Thr Single submitter diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Ala459Val Single submitter Inborn genetic diseases
- p.Ala474Thr Single submitter ⚠
- p.Arg179Pro Single submitter ⚠
- p.Arg241_Lys246del Single submitter
- p.Arg251Trp Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg267Trp Single submitter ⚠
- p.Arg29His Single submitter Inborn genetic diseases ⚠
- p.Arg343Cys Single submitter ⚠
- p.Arg343His Single submitter ⚠
- p.Arg37His Single submitter Inborn genetic diseases ⚠
- p.Arg38Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3Ter Single submitter
- p.Arg460Cys Single submitter ⚠
- p.Arg460Gly Single submitter
- p.Arg483Gly Single submitter Inborn genetic diseases ⚠
- p.Arg616Trp Single submitter Inborn genetic diseases ⚠
- p.Arg86Cys Single submitter ⚠
- p.Asn166Ser Single submitter Inborn genetic diseases ⚠
- p.Asn334= Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Asn341Lys Single submitter ⚠
- p.Asn421Asp Single submitter
- p.Asn435Asp Single submitter Inborn genetic diseases ⚠
- p.Asp170Glu Single submitter Inborn genetic diseases ⚠
- p.Asp170Tyr Single submitter ⚠
- p.Asp243= Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Asp248Glu Single submitter Abnormality of the skin ⚠
- p.Asp346Asn Single submitter ⚠
- p.Gln159His Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Gln163Ter Single submitter
- p.Gln203Pro Single submitter
- p.Gln204His Single submitter ⚠
- p.Gln260Lys Single submitter Inborn genetic diseases
- p.Gln28Arg Single submitter Inborn genetic diseases ⚠
- p.Gln357His Single submitter ⚠
- p.Gln363Arg Single submitter Inborn genetic diseases ⚠
- p.Gln374Glu Single submitter Inborn genetic diseases ⚠
- p.Gln453Pro Single submitter diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Glu202Lys Single submitter ⚠
- p.Glu264Gln Single submitter ⚠
- p.Glu370Gln Single submitter Inborn genetic diseases ⚠
- p.Gly101Ala Single submitter ⚠
- p.Gly105Val Single submitter ⚠
- p.Gly106Ser Single submitter Inborn genetic diseases ⚠
- p.Gly107Ala Single submitter Inborn genetic diseases ⚠
- p.Gly113_Ile114insPheGlyGlyGlyGly Single submitter
- p.Gly117Val Single submitter ⚠
- p.Gly120Asp Single submitter ⚠
- p.Gly125Asp Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Gly126Cys Single submitter Inborn genetic diseases ⚠
- p.Gly128Ser Single submitter Inborn genetic diseases ⚠
- p.Gly137Asp Single submitter Inborn genetic diseases
- p.Gly137Cys Single submitter Inborn genetic diseases ⚠
- p.Gly137Val Single submitter Inborn genetic diseases ⚠
- p.Gly150Ala Single submitter Inborn genetic diseases
- p.Gly151Asp Single submitter Inborn genetic diseases ⚠
- p.Gly42Asp Single submitter Inborn genetic diseases ⚠
- p.Gly515Ser Single submitter Inborn genetic diseases ⚠
- p.Gly51Ala Single submitter Inborn genetic diseases ⚠
- p.Gly520Val Single submitter Inborn genetic diseases ⚠
- p.Gly522Ser Single submitter diffuse nonepidermolytic palmoplantar keratoderma ⚠
- p.Gly526Val Single submitter Inborn genetic diseases ⚠
- p.Gly540Val Single submitter Inborn genetic diseases ⚠
- p.Gly543Val Single submitter Inborn genetic diseases ⚠
- p.Gly548_Gly574del Single submitter
- p.Gly548Ser Single submitter Inborn genetic diseases ⚠
- p.Gly556_Gly563delinsSer Single submitter
- p.Gly569Glu Single submitter Inborn genetic diseases
- p.Gly573Arg Single submitter Inborn genetic diseases ⚠
- p.Gly579Ser Single submitter Inborn genetic diseases ⚠
- p.Gly581Arg Single submitter Inborn genetic diseases
- p.Gly589Asp Single submitter Inborn genetic diseases
- p.Gly596Ser Single submitter Inborn genetic diseases ⚠
- p.Gly597_Gly615delinsSer Single submitter
- p.Gly597Ser Single submitter ⚠
- p.Gly600Cys Single submitter Inborn genetic diseases ⚠
- p.Gly606Ser Single submitter ⚠
- p.Gly61Val Single submitter Inborn genetic diseases ⚠
- p.Gly622fs Single submitter
- p.Gly83Glu Single submitter Inborn genetic diseases ⚠
- p.Gly85Arg Single submitter Inborn genetic diseases
- p.Gly85Glu Single submitter Inborn genetic diseases
- p.Gly95Val Single submitter ⚠
- p.Ile157Thr Single submitter Inborn genetic diseases ⚠
- p.Ile330Asn Single submitter Inborn genetic diseases ⚠
- p.Ile361Thr Single submitter Inborn genetic diseases ⚠
- p.Ile396Thr Single submitter Inborn genetic diseases ⚠
- p.Ile613Lys Single submitter Inborn genetic diseases ⚠
- p.Ile76Leu Single submitter Inborn genetic diseases ⚠
- p.Leu161Phe Single submitter ⚠
- p.Leu214Pro Single submitter ⚠
- p.Leu337Pro Single submitter ⚠
- p.Leu437_Ala440dup Single submitter
- p.Leu475Pro Single submitter KRT1-related disorder ⚠
- p.Lys364Asn Single submitter Inborn genetic diseases ⚠
- p.Met1fs Single submitter
- p.Met259Ile Single submitter Inborn genetic diseases ⚠
- p.Phe109Leu Single submitter Inborn genetic diseases ⚠
- p.Phe17fs Single submitter diffuse nonepidermolytic palmoplantar keratoderma
- p.Ser124Arg Single submitter Inborn genetic diseases ⚠
- p.Ser178Tyr Single submitter Inborn genetic diseases
- p.Ser233Pro Single submitter ⚠
- p.Ser338Pro Single submitter ⚠
- p.Ser34_Ser75del Single submitter
- p.Ser410Pro Single submitter ⚠
- p.Ser568Phe Single submitter Inborn genetic diseases ⚠
- p.Ser598_Gly615del Single submitter
- p.Ser598Thr Single submitter Inborn genetic diseases ⚠
- p.Ser599Pro Single submitter Inborn genetic diseases ⚠
- p.Ser618Phe Single submitter Inborn genetic diseases ⚠
- p.Ser7Phe Single submitter ⚠
- p.Thr36Ala Single submitter ⚠
- p.Thr36Lys Single submitter Inborn genetic diseases ⚠
- p.Thr484Asn Single submitter Inborn genetic diseases ⚠
- p.Thr511fs Single submitter
- p.Thr638Ser Single submitter epidermolytic hyperkeratosis 1 ⚠
- p.Tyr319Cys Single submitter Inborn genetic diseases
- p.Tyr552His Single submitter Inborn genetic diseases ⚠
- p.Val176Ala Single submitter Inborn genetic diseases ⚠
- p.Val335Asp Single submitter ⚠
- p.Val335Gly Single submitter ⚠
- p.Val632Met Single submitter Inborn genetic diseases ⚠
- p.Asp253Tyr No assertion criteria prostate cancer
- p.Ser608Arg No assertion criteria KRT1-related disorder