KRT17 — 181 ClinVar variants
All ClinVar germline KRT17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
13 Pathogenic · 3 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 3 Conflicting · 28 Benign · 8 Benign/Likely benign · 47 Likely benign · 76 Uncertain significance
Full KRT17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 lean, ClinVar uncertain 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT17 p.Arg406Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT17 p.Ala178Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Ala354Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Arg180Ser
Uncertain significance
Single submitter
sebocystomatosis
-
KRT17 p.Arg257His
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Arg268Leu Uncertain significance Single submitter
-
KRT17 p.Arg26Pro
Uncertain significance
Single submitter
sebocystomatosis
- KRT17 p.Arg304Trp Uncertain significance Single submitter
- KRT17 p.Arg305Cys Uncertain significance Single submitter
-
KRT17 p.Arg385Cys
Uncertain significance
Single submitter
pachyonychia congenita 2
- KRT17 p.Arg409Leu Uncertain significance Single submitter
- KRT17 p.Asp100Glu Uncertain significance Single submitter
-
KRT17 p.Asp118Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Asp195Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Asp248Glu Uncertain significance Single submitter
-
KRT17 p.Gln315Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Glu176Asp Uncertain significance Single submitter
- KRT17 p.Glu196Asp Uncertain significance Single submitter
-
KRT17 p.Glu213Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Glu236Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Glu261Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Glu272Lys Uncertain significance Single submitter
-
KRT17 p.Glu281Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Glu425Gly Uncertain significance Single submitter
- KRT17 p.Glu425Lys Uncertain significance Single submitter
- KRT17 p.Gly22Ser Uncertain significance Single submitter
-
KRT17 p.Gly390Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Gly418Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Gly47Ala Uncertain significance Single submitter
- KRT17 p.Gly82Arg Uncertain significance Single submitter
-
KRT17 p.Gly82Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Leu292Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Leu303His
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Leu314Val Uncertain significance Single submitter
-
KRT17 p.Lys15Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Met241Val Uncertain significance Single submitter
-
KRT17 p.Met307Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Pro127Ser Uncertain significance Single submitter
-
KRT17 p.Thr27Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Thr375Met Uncertain significance Single submitter
-
KRT17 p.Tyr398Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Val408Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 30
The independent predictors disagree with each other — read with care.
- KRT17 p.Arg30Pro Benign/Likely benign Multiple submitters
- KRT17 p.Glu223Lys Benign Multiple submitters
- KRT17 p.Pro125Arg Uncertain significance Multiple submitters
- KRT17 p.Arg117Cys Uncertain significance Single submitter
- KRT17 p.Arg163His Uncertain significance Single submitter
- KRT17 p.Arg230Gln Uncertain significance Single submitter
-
KRT17 p.Arg251Cys
Conflicting
Single submitter
Inborn genetic diseases
- KRT17 p.Arg284Cys Uncertain significance Single submitter
- KRT17 p.Arg284Leu Uncertain significance Single submitter
- KRT17 p.Arg386Cys Uncertain significance Single submitter
- KRT17 p.Arg386His Uncertain significance Single submitter
- KRT17 p.Arg6Cys Likely benign Single submitter
-
KRT17 p.Glu213Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Gly126Arg Uncertain significance Single submitter
-
KRT17 p.Gly34Asp
Conflicting
Single submitter
Inborn genetic diseases
- KRT17 p.Gly68Asp Uncertain significance Single submitter
-
KRT17 p.Gly75Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Ile208Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Leu42Pro Likely benign Single submitter
- KRT17 p.Lys269Glu Uncertain significance Single submitter
-
KRT17 p.Met206Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT17 p.Met320Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Pro125Thr Uncertain significance Single submitter
- KRT17 p.Ser277Arg Uncertain significance Single submitter
-
KRT17 p.Ser301Leu
Uncertain significance
Single submitter
pachyonychia congenita 2
-
KRT17 p.Ser4Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Ser62Cys Benign Single submitter
-
KRT17 p.Ser71Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT17 p.Thr137Ile Uncertain significance Single submitter
- KRT17 p.Tyr217Ser Uncertain significance Single submitter
All KRT17 variants
Pathogenic 13
- p.Arg94Cys Multiple submitters KRT17-related disorders
- p.Asn92Asp Multiple submitters pachyonychia congenita 2
- p.Asn92Ser Multiple submitters KRT17-related disorders
- c.960+5G>A Single submitter nonsyndromic congenital nail disorder 4
- p.Asn109Asp Single submitter
- p.Leu95Pro Single submitter pachyonychia congenita 2
- p.Arg94_Tyr98del No assertion criteria pachyonychia congenita 2
- p.Arg94Pro No assertion criteria pachyonychia congenita 2
- p.Asn92His No assertion criteria sebocystomatosis
- p.Leu95Gln No assertion criteria pachyonychia congenita 2
- p.Met88Thr No assertion criteria pachyonychia congenita 2
- p.Tyr98Asp No assertion criteria pachyonychia congenita 2
- p.Val102Met No assertion criteria pachyonychia congenita 2
Pathogenic/Likely pathogenic 3
- p.Arg94His Multiple submitters sebocystomatosis
- p.Leu99Pro Multiple submitters KRT17-related disorders
- p.Ser97del Multiple submitters pachyonychia congenita 2
Likely pathogenic 3
- p.Arg94Leu Multiple submitters KRT17-related disorders
- p.Leu371Pro Single submitter KRT17-related disorders
- p.Leu388Pro Single submitter
Conflicting classifications of pathogenicity 3
- p.Arg251Cys Single submitter Inborn genetic diseases ⚠
- p.Gly34Asp Single submitter Inborn genetic diseases ⚠
- p.Lys262Ter Single submitter pachyonychia congenita 2
Benign 28
- c.515+42C>G Multiple submitters
- c.-42T>C Multiple submitters
- c.-6G>C Multiple submitters
- p.Arg170Cys Multiple submitters
- p.Glu223Lys Multiple submitters ⚠
- p.Glu425= Multiple submitters
- p.Ser4Thr Multiple submitters
- c.1182-8del Single submitter
- c.1182-8dup Single submitter
- c.1204+20C>T Single submitter
- c.433-20C>G Single submitter
- c.516-6C>T Single submitter
- c.834+3G>A Single submitter
- c.834+3G>C Single submitter
- p.Ala202= Single submitter
- p.Arg424Leu Single submitter
- p.Arg6= Single submitter
- p.Asn227= Single submitter
- p.Glu107Lys Single submitter
- p.Gly16= Single submitter
- p.Gly33= Single submitter
- p.His222= Single submitter
- p.Ser348= Single submitter
- p.Ser62Cys Single submitter ⚠
- p.Thr149= Single submitter
- p.Val349Met Single submitter
- c.-10C>T No assertion criteria KRT17-related disorder
- c.-5C>T No assertion criteria KRT17-related disorder
Benign/Likely benign 8
- c.516-7A>G Multiple submitters
- c.834+5G>A Multiple submitters pachyonychia congenita 2
- p.Ala124= Multiple submitters
- p.Arg284= Multiple submitters
- p.Arg30Pro Multiple submitters ⚠
- p.Asn254= Multiple submitters
- p.Ser18= Multiple submitters
- p.Ser301= Multiple submitters
Likely benign 47
- c.673-7T>C Multiple submitters
- p.Glu413= Multiple submitters
- c.1181+13G>A Single submitter
- c.1182-19_1182-16del Single submitter
- c.1182-8T>C Single submitter
- c.1205-19_1205-18delinsGC Single submitter
- c.433-16T>C Single submitter
- c.433-20C>T Single submitter
- c.515+19C>T Single submitter
- c.673-3T>C Single submitter
- c.835-8G>C Single submitter
- p.Ala128= Single submitter
- p.Ala271= Single submitter
- p.Ala322= Single submitter
- p.Ala322Thr Single submitter
- p.Arg30Gln Single submitter
- p.Arg376Gln Single submitter
- p.Arg376Trp Single submitter
- p.Arg386= Single submitter
- p.Arg424Cys Single submitter
- p.Arg424His Single submitter
- p.Arg432Cys Single submitter
- p.Arg6Cys Single submitter ⚠
- p.Asp93= Single submitter
- p.Cys60Ser Single submitter
- p.Glu359Gln Single submitter
- p.Gly22= Single submitter
- p.Gly23Ser Single submitter
- p.Gly246= Single submitter
- p.Gly46= Single submitter
- p.Gly53Arg Single submitter
- p.Gly75= Single submitter
- p.His394= Single submitter Inborn genetic diseases
- p.Ile138= Single submitter
- p.Leu190= Single submitter
- p.Leu387= Single submitter
- p.Leu388= Single submitter
- p.Leu42Pro Single submitter ⚠
- p.Pro402Ser Single submitter
- p.Thr3= Single submitter
- p.Thr331= Single submitter
- p.Thr51Ala Single submitter
- p.Tyr57= Single submitter
- c.1182-9_1182-8dup No assertion criteria KRT17-related disorder
- c.-9G>A No assertion criteria KRT17-related disorder
- p.Ala243= No assertion criteria KRT17-related disorder
- p.Gly36= No assertion criteria KRT17-related disorder
Uncertain significance 76
- p.Ala81Val Multiple submitters
- p.Arg406Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly54fs Multiple submitters pachyonychia congenita 2
- p.Pro125Arg Multiple submitters ⚠
- c.515+5G>A Single submitter
- c.672+5G>A Single submitter
- p.Ala124Asp Single submitter
- p.Ala128Ser Single submitter
- p.Ala178Pro Single submitter Inborn genetic diseases ⚠
- p.Ala354Asp Single submitter Inborn genetic diseases ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg163His Single submitter ⚠
- p.Arg180Ser Single submitter sebocystomatosis ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg257His Single submitter Inborn genetic diseases ⚠
- p.Arg268Leu Single submitter ⚠
- p.Arg26Pro Single submitter sebocystomatosis ⚠
- p.Arg284Cys Single submitter ⚠
- p.Arg284Leu Single submitter ⚠
- p.Arg304Trp Single submitter ⚠
- p.Arg305Cys Single submitter ⚠
- p.Arg385Cys Single submitter pachyonychia congenita 2 ⚠
- p.Arg386Cys Single submitter ⚠
- p.Arg386His Single submitter ⚠
- p.Arg409Leu Single submitter ⚠
- p.Asp100Glu Single submitter ⚠
- p.Asp118Glu Single submitter Inborn genetic diseases ⚠
- p.Asp195Glu Single submitter Inborn genetic diseases ⚠
- p.Asp248Glu Single submitter ⚠
- p.Gln315Arg Single submitter Inborn genetic diseases ⚠
- p.Glu176Asp Single submitter ⚠
- p.Glu196Asp Single submitter ⚠
- p.Glu213Asp Single submitter Inborn genetic diseases ⚠
- p.Glu213Lys Single submitter Inborn genetic diseases ⚠
- p.Glu236Lys Single submitter Inborn genetic diseases ⚠
- p.Glu261Lys Single submitter Inborn genetic diseases ⚠
- p.Glu272Lys Single submitter ⚠
- p.Glu281Asp Single submitter Inborn genetic diseases ⚠
- p.Glu425Gly Single submitter ⚠
- p.Glu425Lys Single submitter ⚠
- p.Gly126Arg Single submitter ⚠
- p.Gly21Glu Single submitter Inborn genetic diseases
- p.Gly22Ser Single submitter ⚠
- p.Gly390Arg Single submitter Inborn genetic diseases ⚠
- p.Gly418Cys Single submitter Inborn genetic diseases ⚠
- p.Gly47Ala Single submitter ⚠
- p.Gly68Asp Single submitter ⚠
- p.Gly75Val Single submitter Inborn genetic diseases ⚠
- p.Gly82Arg Single submitter ⚠
- p.Gly82Glu Single submitter Inborn genetic diseases ⚠
- p.Ile208Thr Single submitter Inborn genetic diseases ⚠
- p.Leu292Pro Single submitter Inborn genetic diseases ⚠
- p.Leu303His Single submitter Inborn genetic diseases ⚠
- p.Leu314Val Single submitter ⚠
- p.Lys15Arg Single submitter Inborn genetic diseases ⚠
- p.Lys269Glu Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met206Ile Single submitter Inborn genetic diseases ⚠
- p.Met241Val Single submitter ⚠
- p.Met307Ile Single submitter Inborn genetic diseases ⚠
- p.Met320Thr Single submitter Inborn genetic diseases ⚠
- p.Pro125Thr Single submitter ⚠
- p.Pro127Ser Single submitter ⚠
- p.Ser277Arg Single submitter ⚠
- p.Ser301Leu Single submitter pachyonychia congenita 2 ⚠
- p.Ser4Phe Single submitter Inborn genetic diseases ⚠
- p.Ser71Arg Single submitter Inborn genetic diseases ⚠
- p.Thr137Ile Single submitter ⚠
- p.Thr27Ile Single submitter Inborn genetic diseases ⚠
- p.Thr375Met Single submitter ⚠
- p.Tyr120His Single submitter Inborn genetic diseases
- p.Tyr217Ser Single submitter ⚠
- p.Tyr367Ter Single submitter
- p.Tyr398Cys Single submitter Inborn genetic diseases ⚠
- p.Val373Met Single submitter Inborn genetic diseases
- p.Val408Ala Single submitter Inborn genetic diseases ⚠