KRT6C — 201 ClinVar variants
All ClinVar germline KRT6C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Conflicting · 31 Benign · 5 Benign/Likely benign · 50 Likely benign · 108 Uncertain significance
Full KRT6C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT6C p.Gln340His
Conflicting
Single submitter
Inborn genetic diseases
-
KRT6C p.Ile535Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KRT6C p.Tyr515Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 68
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT6C p.Arg349Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Asp331His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Gly504Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Gly525Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Gly57Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Ala119Val
Uncertain significance
Single submitter
palmoplantar keratoderma, nonepidermolytic, focal or diffuse
-
KRT6C p.Ala20Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ala304Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ala407Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ala54Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ala78Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ala96Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg16Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg232Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Arg234Gly Uncertain significance Single submitter
-
KRT6C p.Arg326Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Arg326His Uncertain significance Single submitter
-
KRT6C p.Arg375Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg386Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg415Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg475Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg86Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Asn21Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Asn280Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Asn324Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Asn425Ser Uncertain significance Single submitter
- KRT6C p.Asp329Ala Uncertain significance Single submitter
-
KRT6C p.Cys77Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gln310Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gln439Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Glu342Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Glu343Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Glu361Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Glu380Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gly101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gly121Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gly126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gly429Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Gly480Ala Uncertain significance Single submitter
-
KRT6C p.Gly82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.His370Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.His564Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ile334Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ile395Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Leu148Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Leu225Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Leu245Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Leu320Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Leu476Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Lys378Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Met242Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Met279Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Met309Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Met418Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Phe100Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Phe100Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Pro132Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Ser10Arg Uncertain significance Single submitter
-
KRT6C p.Ser237Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser404Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser41Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser44Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Thr261Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Thr316Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Thr377Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Trp355Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Val365Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Ile523Asn Uncertain significance No assertion criteria
Predictors split 36
The independent predictors disagree with each other — read with care.
-
KRT6C p.Arg260Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Arg466Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Ile395Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Ser143Asn
Benign
Multiple submitters
palmoplantar keratoderma, nonepidermolytic, focal or diffuse
-
KRT6C p.Val454Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT6C p.Ala23Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Ala335Thr Uncertain significance Single submitter
-
KRT6C p.Arg16Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg234Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg260His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg415His
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Arg443Gln Benign Single submitter
-
KRT6C p.Asn241Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Asp432Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gln285Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gln357Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Gly103Ser
Conflicting
Single submitter
Inborn genetic diseases
- KRT6C p.Gly504Asp Uncertain significance Single submitter
-
KRT6C p.Gly520Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT6C p.Gly536Val Uncertain significance Single submitter
- KRT6C p.Gly53Arg Likely benign Single submitter
- KRT6C p.Leu61Gln Uncertain significance Single submitter
-
KRT6C p.Phe122Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser13Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser14Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser39Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser491Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser513Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser541Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser67Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Ser98Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Thr205Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Tyr302Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Val282Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT6C p.Arg40Cys
Likely benign
No assertion criteria
KRT6C-related disorder
-
KRT6C p.Gly88Arg
Benign
No assertion criteria
KRT6C-related disorder
All KRT6C variants
Pathogenic 2
- p.Asn172del Single submitter focal palmoplantar keratoderma
- p.Ile462_Glu470del No assertion criteria focal palmoplantar keratoderma
Pathogenic/Likely pathogenic 1
- p.Glu472Lys Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
Conflicting classifications of pathogenicity 4
- p.Gln340His Single submitter Inborn genetic diseases ⚠
- p.Gly103Ser Single submitter Inborn genetic diseases ⚠
- p.Ile535Thr Single submitter Inborn genetic diseases ⚠
- p.Tyr515Ser Single submitter Inborn genetic diseases ⚠
Benign 31
- c.1460-10C>A Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- c.755+13T>C Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- c.816+13A>G Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Arg182Gln Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Gly538Ala Multiple submitters
- p.Gly66= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Leu451= Multiple submitters
- p.Leu61= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Lys438= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Ser143Asn Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse ⚠
- p.Ser317= Multiple submitters
- p.Ser501= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Ser60= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Thr139= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Val229= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Val481Ile Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Val503= Multiple submitters
- p.Arg347= Single submitter
- p.Arg386His Single submitter
- p.Arg443Gln Single submitter ⚠
- p.Asn220Lys Single submitter
- p.Cys402= Single submitter
- p.Gly478= Single submitter
- p.Gly49= Single submitter
- p.Gly508= Single submitter
- p.Gly544Ser Single submitter
- p.Phe297= Single submitter
- p.Tyr341= Single submitter
- p.Gly111Asp No assertion criteria KRT6C-related disorder
- p.Gly88Arg No assertion criteria KRT6C-related disorder ⚠
- p.Ser227Asn No assertion criteria KRT6C-related disorder
Benign/Likely benign 5
- p.Ala419= Multiple submitters palmoplantar keratoderma, nonepidermolytic, focal or diffuse
- p.Arg349= Multiple submitters
- p.Gly544= Multiple submitters
- p.Ile36Val Multiple submitters Inborn genetic diseases
- p.Val486Ile Multiple submitters Inborn genetic diseases
Likely benign 50
- p.Ala423= Multiple submitters Inborn genetic diseases
- p.Asn21Ser Multiple submitters
- p.Asp293= Multiple submitters
- p.Ile493Val Multiple submitters Inborn genetic diseases
- p.Ile523Val Multiple submitters Inborn genetic diseases
- p.Leu291= Multiple submitters
- c.1077+12G>A Single submitter
- c.1078-11C>T Single submitter
- c.1204-8C>T Single submitter
- c.1424+3A>G Single submitter
- c.1425-7T>A Single submitter
- c.1460-11C>A Single submitter
- c.1460-15C>T Single submitter
- c.1460-6C>T Single submitter
- c.756-16G>A Single submitter
- c.756-19T>C Single submitter
- c.912+11C>T Single submitter
- p.Ala106= Single submitter
- p.Arg234= Single submitter
- p.Arg299= Single submitter
- p.Asn453= Single submitter
- p.Asn485= Single submitter
- p.Asp153= Single submitter
- p.Asp372= Single submitter
- p.Asp459= Single submitter
- p.Gln364= Single submitter
- p.Glu353= Single submitter
- p.Gly471= Single submitter
- p.Gly480= Single submitter
- p.Gly53Arg Single submitter ⚠
- p.Gly545Ser Single submitter Inborn genetic diseases
- p.Gly84Asp Single submitter
- p.Gly95= Single submitter
- p.Ile228= Single submitter
- p.Leu198= Single submitter
- p.Leu320= Single submitter
- p.Lys287= Single submitter
- p.Lys455= Single submitter
- p.Lys560= Single submitter
- p.Lys563= Single submitter
- p.Pro132= Single submitter
- p.Ser237= Single submitter
- p.Ser98= Single submitter
- p.Tyr360= Single submitter
- p.Val159= Single submitter
- p.Val489= Single submitter
- c.541-6T>C No assertion criteria KRT6C-related disorder
- p.Arg40Cys No assertion criteria KRT6C-related disorder ⚠
- p.Gly504= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Ter565= No assertion criteria KRT6C-related disorder
Uncertain significance 108
- p.Arg260Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg349Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg466Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp331His Multiple submitters Inborn genetic diseases ⚠
- p.Glu479Lys Multiple submitters Inborn genetic diseases
- p.Gly504Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly525Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly57Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile395Met Multiple submitters Inborn genetic diseases ⚠
- p.Val454Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ala119Val Single submitter palmoplantar keratoderma, nonepidermolytic, focal or diffuse ⚠
- p.Ala20Ser Single submitter Inborn genetic diseases ⚠
- p.Ala23Asp Single submitter Inborn genetic diseases ⚠
- p.Ala304Thr Single submitter Inborn genetic diseases ⚠
- p.Ala335Thr Single submitter ⚠
- p.Ala407Val Single submitter Inborn genetic diseases ⚠
- p.Ala419Val Single submitter Inborn genetic diseases
- p.Ala54Val Single submitter Inborn genetic diseases ⚠
- p.Ala78Val Single submitter Inborn genetic diseases ⚠
- p.Ala96Pro Single submitter Inborn genetic diseases ⚠
- p.Arg16Gln Single submitter Inborn genetic diseases ⚠
- p.Arg16Trp Single submitter Inborn genetic diseases ⚠
- p.Arg232Gln Single submitter Inborn genetic diseases ⚠
- p.Arg234Cys Single submitter Inborn genetic diseases ⚠
- p.Arg234Gly Single submitter ⚠
- p.Arg260His Single submitter Inborn genetic diseases ⚠
- p.Arg326Cys Single submitter Inborn genetic diseases ⚠
- p.Arg326His Single submitter ⚠
- p.Arg375Cys Single submitter Inborn genetic diseases ⚠
- p.Arg386Cys Single submitter Inborn genetic diseases ⚠
- p.Arg415Cys Single submitter Inborn genetic diseases ⚠
- p.Arg415His Single submitter Inborn genetic diseases ⚠
- p.Arg475Gly Single submitter Inborn genetic diseases ⚠
- p.Arg86Gly Single submitter Inborn genetic diseases ⚠
- p.Asn21Asp Single submitter Inborn genetic diseases ⚠
- p.Asn241Ile Single submitter Inborn genetic diseases ⚠
- p.Asn280Ser Single submitter Inborn genetic diseases ⚠
- p.Asn324Ile Single submitter Inborn genetic diseases ⚠
- p.Asn425Ser Single submitter ⚠
- p.Asp236Tyr Single submitter Inborn genetic diseases
- p.Asp329Ala Single submitter ⚠
- p.Asp372Glu Single submitter
- p.Asp432Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys77Arg Single submitter Inborn genetic diseases ⚠
- p.Gln285Arg Single submitter Inborn genetic diseases ⚠
- p.Gln310Pro Single submitter Inborn genetic diseases ⚠
- p.Gln357Lys Single submitter Inborn genetic diseases ⚠
- p.Gln439Glu Single submitter Inborn genetic diseases ⚠
- p.Glu342Lys Single submitter Inborn genetic diseases ⚠
- p.Glu343Asp Single submitter Inborn genetic diseases ⚠
- p.Glu361Asp Single submitter Inborn genetic diseases ⚠
- p.Glu380Lys Single submitter Inborn genetic diseases ⚠
- p.Gly101Ser Single submitter Inborn genetic diseases ⚠
- p.Gly121Ser Single submitter Inborn genetic diseases ⚠
- p.Gly126Ser Single submitter Inborn genetic diseases ⚠
- p.Gly429Glu Single submitter Inborn genetic diseases ⚠
- p.Gly480Ala Single submitter ⚠
- p.Gly482Arg Single submitter Inborn genetic diseases
- p.Gly504Asp Single submitter ⚠
- p.Gly520Asp Single submitter Inborn genetic diseases ⚠
- p.Gly52Glu Single submitter Inborn genetic diseases
- p.Gly536Val Single submitter ⚠
- p.Gly82Ser Single submitter Inborn genetic diseases ⚠
- p.His370Arg Single submitter Inborn genetic diseases ⚠
- p.His564Pro Single submitter Inborn genetic diseases ⚠
- p.Ile334Phe Single submitter Inborn genetic diseases ⚠
- p.Ile395Phe Single submitter Inborn genetic diseases ⚠
- p.Leu148Phe Single submitter Inborn genetic diseases ⚠
- p.Leu225Pro Single submitter Inborn genetic diseases ⚠
- p.Leu245Met Single submitter Inborn genetic diseases ⚠
- p.Leu320Pro Single submitter Inborn genetic diseases ⚠
- p.Leu476Val Single submitter Inborn genetic diseases ⚠
- p.Leu61Gln Single submitter ⚠
- p.Lys378Glu Single submitter Inborn genetic diseases ⚠
- p.Lys446Thr Single submitter Inborn genetic diseases
- p.Met242Val Single submitter Inborn genetic diseases ⚠
- p.Met279Lys Single submitter Inborn genetic diseases ⚠
- p.Met309Leu Single submitter Inborn genetic diseases ⚠
- p.Met418Val Single submitter Inborn genetic diseases ⚠
- p.Phe100Ile Single submitter Inborn genetic diseases ⚠
- p.Phe100Val Single submitter Inborn genetic diseases ⚠
- p.Phe122Leu Single submitter Inborn genetic diseases ⚠
- p.Pro132Ala Single submitter Inborn genetic diseases ⚠
- p.Ser10Arg Single submitter ⚠
- p.Ser13Asn Single submitter Inborn genetic diseases ⚠
- p.Ser14Arg Single submitter Inborn genetic diseases ⚠
- p.Ser237Leu Single submitter Inborn genetic diseases ⚠
- p.Ser332Asn Single submitter Inborn genetic diseases
- p.Ser39Cys Single submitter Inborn genetic diseases ⚠
- p.Ser404Arg Single submitter Inborn genetic diseases ⚠
- p.Ser41Pro Single submitter Inborn genetic diseases ⚠
- p.Ser44Gly Single submitter Inborn genetic diseases ⚠
- p.Ser491Cys Single submitter Inborn genetic diseases ⚠
- p.Ser513Asn Single submitter Inborn genetic diseases ⚠
- p.Ser541Phe Single submitter Inborn genetic diseases ⚠
- p.Ser60fs Single submitter
- p.Ser67Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser98Asn Single submitter Inborn genetic diseases ⚠
- p.Thr205Ile Single submitter Inborn genetic diseases ⚠
- p.Thr261Lys Single submitter Inborn genetic diseases ⚠
- p.Thr316Ile Single submitter Inborn genetic diseases ⚠
- p.Thr377Ile Single submitter Inborn genetic diseases ⚠
- p.Trp355Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr302Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr62fs Single submitter
- p.Val282Ile Single submitter Inborn genetic diseases ⚠
- p.Val365Ile Single submitter Inborn genetic diseases ⚠
- p.Ile523Asn No assertion criteria ⚠