KRT85 — 168 ClinVar variants

All ClinVar germline KRT85 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →

1 Pathogenic · 4 Conflicting · 27 Benign · 4 Benign/Likely benign · 26 Likely benign · 106 Uncertain significance

Full KRT85 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 101

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 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 84

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All KRT85 variants

Pathogenic 1

p.Pro483fs No assertion criteria ectodermal dysplasia 4, hair/nail type

Conflicting classifications of pathogenicity 4

p.Glu184Lys Single submitter ⚠
p.Phe71Ser Single submitter ⚠
p.Pro64Thr Single submitter ⚠
p.Val438Ala Single submitter ⚠

Benign 27

c.1299-59A>G Multiple submitters
c.1330+154T>A Multiple submitters
c.1330+62T>C Multiple submitters
c.1331-123C>T Multiple submitters
c.420+38C>T Multiple submitters
c.421-40C>G Multiple submitters
c.*122A>G Multiple submitters
c.*147C>A Multiple submitters
p.Asp189Asn Multiple submitters
p.Gly13Arg Multiple submitters
p.Thr350= Multiple submitters
p.Thr49= Multiple submitters
c.420+300GT[4] Single submitter
c.421-285C>T Single submitter
c.691-7C>T Single submitter
c.951+117G>T Single submitter
p.Ala308= Single submitter
p.Ala386= Single submitter
p.Arg492Leu Single submitter
p.Asn160= Single submitter
p.Asn340= Single submitter
p.Cys12Arg Single submitter
p.Cys234Gly Single submitter
p.Glu389= Single submitter
p.Pro38= Single submitter
p.Thr324Met Single submitter
c.630-21C>T No assertion criteria KRT85-related disorder

Benign/Likely benign 4

c.1078-17G>A Multiple submitters
p.Arg348= Multiple submitters
p.Arg78His Multiple submitters ectodermal dysplasia 4, hair/nail type
p.Leu349= Multiple submitters

Likely benign 26

c.1299-20A>C Single submitter
c.1299-8C>A Single submitter
c.420+19G>A Single submitter
c.630-10C>T Single submitter
c.691-4C>T Single submitter
c.786+9G>T Single submitter
c.952-13C>G Single submitter
p.Ala183= Single submitter
p.Ala188= Single submitter
p.Ala351= Single submitter
p.Cys498= Single submitter
p.Gly390= Single submitter
p.Gly475= Single submitter
p.Gly69= Single submitter
p.Gly89= Single submitter
p.Leu56= Single submitter
p.Ser190= Single submitter
p.Ser272= Single submitter
p.Thr324= Single submitter
p.Thr96= Single submitter
p.Val186Met Single submitter
c.691-6G>C No assertion criteria KRT85-related disorder
p.Arg265= No assertion criteria KRT85-related disorder
p.Ser275= No assertion criteria KRT85-related disorder
p.Ser5= No assertion criteria KRT85-related disorder
p.Thr462= No assertion criteria KRT85-related disorder

Uncertain significance 106

p.Arg142His Multiple submitters ⚠
p.Arg315His Multiple submitters ⚠
p.Arg465His Multiple submitters ⚠
p.Asn115Lys Multiple submitters ⚠
p.Glu352Lys Multiple submitters ⚠
p.Gly390Ser Multiple submitters ⚠
p.Gly89Arg Multiple submitters ⚠
p.Ala23Val Single submitter ⚠
p.Ala244Thr Single submitter ⚠
p.Ala361Ser Single submitter ⚠
p.Ala370Thr Single submitter ⚠
p.Ala376Gly Single submitter ⚠
p.Ala487Asp Single submitter ⚠
p.Ala73Asp Single submitter ⚠
p.Arg142Cys Single submitter ⚠
p.Arg162Cys Single submitter ⚠
p.Arg162His Single submitter ⚠
p.Arg180Trp Single submitter ectodermal dysplasia 4, hair/nail type ⚠
p.Arg181Gln Single submitter ⚠
p.Arg238Gln Single submitter ⚠
p.Arg238Trp Single submitter ⚠
p.Arg258Cys Single submitter ⚠
p.Arg258Gly Single submitter ⚠
p.Arg258His Single submitter ⚠
p.Arg265Cys Single submitter ⚠
p.Arg265His Single submitter ⚠
p.Arg305His Single submitter ⚠
p.Arg307Gln Single submitter ⚠
p.Arg307Trp Single submitter ⚠
p.Arg315Cys Single submitter ⚠
p.Arg315Tyr Single submitter
p.Arg360Cys Single submitter ⚠
p.Arg360His Single submitter ⚠
p.Arg424Ser Single submitter ⚠
p.Arg425His Single submitter ⚠
p.Arg449Cys Single submitter ⚠
p.Arg449His Single submitter ⚠
p.Arg465Cys Single submitter ⚠
p.Arg465Pro Single submitter ⚠
p.Arg46Leu Single submitter ⚠
p.Arg4Cys Single submitter ⚠
p.Arg505His Single submitter ⚠
p.Arg78Ser Single submitter ⚠
p.Asn223Lys Single submitter ⚠
p.Asp301Asn Single submitter ⚠
p.Asp380Asn Single submitter ⚠
p.Asp484Glu Single submitter ⚠
p.Asp484Gly Single submitter ⚠
p.Cys163Tyr Single submitter ⚠
p.Cys383Tyr Single submitter ⚠
p.Cys44Gly Single submitter ⚠
p.Cys454Tyr Single submitter ⚠
p.Cys486Tyr Single submitter ⚠
p.Cys76Ter Single submitter
p.Gln373Arg Single submitter ⚠
p.Glu102Lys Single submitter ⚠
p.Glu145Gln Single submitter ⚠
p.Glu165Lys Single submitter ⚠
p.Glu187Lys Single submitter ⚠
p.Glu214Asp Single submitter ⚠
p.Glu419Lys Single submitter ⚠
p.Gly11Ala Single submitter ⚠
p.Gly191Arg Single submitter
p.Gly455Ala Single submitter ⚠
p.Gly470Arg Single submitter ⚠
p.Gly47Glu Single submitter ⚠
p.Gly499Arg Single submitter
p.His199Gln Single submitter ⚠
p.His432Asp Single submitter ⚠
p.Ile127Asn Single submitter ⚠
p.Ile295Asn Single submitter ⚠
p.Ile326Thr Single submitter ⚠
p.Ile467Leu Single submitter ⚠
p.Ile478Met Single submitter ⚠
p.Leu144Pro Single submitter ⚠
p.Leu168Val Single submitter ⚠
p.Leu242Gln Single submitter ⚠
p.Leu267Pro Single submitter ⚠
p.Leu48Gln Single submitter
p.Lys208Glu Single submitter ⚠
p.Lys230Arg Single submitter ⚠
p.Lys322Asn Single submitter ⚠
p.Met321Thr Single submitter ⚠
p.Met345Arg Single submitter
p.Met345Thr Single submitter ⚠
p.Phe134Leu Single submitter ⚠
p.Phe157Ser Single submitter ⚠
p.Phe496Leu Single submitter ⚠
p.Ser254Ile Single submitter ⚠
p.Ser275Pro Single submitter ectodermal dysplasia 4, hair/nail type ⚠
p.Ser35Gly Single submitter ⚠
p.Ser43Phe Single submitter
p.Ser453Phe Single submitter ⚠
p.Thr28Ile Single submitter ⚠
p.Thr331Asn Single submitter ⚠
p.Thr479Arg Single submitter ⚠
p.Thr479Met Single submitter ⚠
p.Thr49Ala Single submitter ⚠
p.Tyr236Cys Single submitter
p.Tyr236His Single submitter ⚠
p.Val186Ala Single submitter ⚠
p.Val227Ala Single submitter ⚠
p.Val227Ile Single submitter ⚠
p.Val232Met Single submitter
p.Val266Ile Single submitter ⚠
p.Val504Ile Single submitter ⚠