KRT86 — 156 ClinVar variants
All ClinVar germline KRT86 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
5 Pathogenic · 1 Likely pathogenic · 40 Benign · 5 Benign/Likely benign · 25 Likely benign · 80 Uncertain significance
Full KRT86 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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT86 p.Ala293Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT86 p.Ala218Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ala231Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ala360Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ala383Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg21Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg221Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg221His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg241Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg248Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg248Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg288Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg288His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg298His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg298Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT86 p.Arg316His Uncertain significance Single submitter
-
KRT86 p.Arg317Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg317His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg33Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg55Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg61Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Cys101Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Cys273Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Cys479Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Cys486Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gln281Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gln390Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT86 p.Glu128Gln Uncertain significance Single submitter
-
KRT86 p.Glu230Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Glu294Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Glu324Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Glu402Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Glu85Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly373Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly40Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly465Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly46Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly57Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gly69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Leu361Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Leu385Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Lys379Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Met393Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Phe54Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Pro75Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Pro76Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ser13Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ser255Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ser289Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KRT86 p.Ser295Cys Uncertain significance Single submitter
-
KRT86 p.Ser395Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Thr333Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val229Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val286Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val421Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val448Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val50Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val81Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 14
The independent predictors disagree with each other — read with care.
-
KRT86 p.Ala404Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ala446Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg365Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Arg55Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Asp214Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Gln104Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Ile78Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Met271Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Met304Thr
Uncertain significance
Single submitter
monilethrix-1
-
KRT86 p.Ser473Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Tyr243Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Tyr243Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val456Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT86 p.Val463Glu
Uncertain significance
Single submitter
Inborn genetic diseases
All KRT86 variants
Pathogenic 5
- p.Glu413Lys Single submitter monilethrix
- p.Ala118Glu No assertion criteria monilethrix
- p.Asn114Asp No assertion criteria monilethrix
- p.Glu402Gln No assertion criteria monilethrix
- p.Glu413Asp No assertion criteria monilethrix
Likely pathogenic 1
- p.Glu402Lys Single submitter monilethrix-1
Benign 40
- c.1027-116G>A Multiple submitters
- c.1247+36C>A Multiple submitters
- c.578+178G>C Multiple submitters
- c.579-86G>C Multiple submitters
- c.579-89C>T Multiple submitters
- c.579-93T>C Multiple submitters
- c.900+25G>T Multiple submitters
- c.-4-67C>T Multiple submitters
- c.*127C>T Multiple submitters
- c.*264G>A Multiple submitters
- c.*287A>G Multiple submitters
- c.*94A>G Multiple submitters
- p.Ala29= Multiple submitters
- p.Ala291= Multiple submitters
- p.Ala334= Multiple submitters
- p.Arg116= Multiple submitters
- p.Arg327Cys Multiple submitters
- p.Cys18= Multiple submitters
- p.Gln139Pro Multiple submitters
- p.Lys212= Multiple submitters
- c.1248-309T>C Single submitter
- c.370-249del Single submitter
- c.370-249dup Single submitter
- c.370-250_370-249del Single submitter
- c.370-250_370-249dup Single submitter
- c.370-255_370-254insA Single submitter
- c.579-144C>G Single submitter
- c.579-147A>C Single submitter
- c.579-151T>C Single submitter
- c.639+269C>T Single submitter
- c.639+271A>G Single submitter
- c.639+273T>G Single submitter
- c.639+275C>T Single submitter
- c.639+280G>T Single submitter
- c.639+281C>T Single submitter
- c.639+290C>A Single submitter
- c.639+301A>T Single submitter
- c.-5+10305del Single submitter
- c.*278_*279dup Single submitter
- c.*279dup Single submitter
Benign/Likely benign 5
- p.Ala351= Multiple submitters monilethrix
- p.Arg66His Multiple submitters
- p.Asn228= Multiple submitters monilethrix
- p.Leu368= Multiple submitters monilethrix
- p.Pro20= Multiple submitters
Likely benign 25
- c.1027-15C>T Multiple submitters
- c.1248-152C>T Multiple submitters
- c.370-9G>A Multiple submitters
- c.901-28A>G Multiple submitters
- p.Ala348= Multiple submitters
- c.1247+191C>G Single submitter
- c.1248-271T>C Single submitter
- c.639+269_639+271del Single submitter
- c.639+275del Single submitter
- c.639+277_639+278insGTTT Single submitter
- c.736-60T>C Single submitter
- c.900+114C>T Single submitter
- p.Ala369= Single submitter
- p.Arg33= Single submitter Inborn genetic diseases
- p.Arg387Lys Single submitter Inborn genetic diseases
- p.Cys3= Single submitter
- p.Gln139Lys Single submitter Inborn genetic diseases
- p.Ile386Leu Single submitter Inborn genetic diseases
- p.Leu239= Single submitter
- p.Ser252= Single submitter
- p.Ser255= Single submitter
- p.Ser460Gly Single submitter Inborn genetic diseases
- p.Ser67= Single submitter
- c.1280-9C>G No assertion criteria KRT86-related disorder
- c.*10G>C No assertion criteria KRT86-related disorder
Uncertain significance 80
- p.Ala293Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala218Thr Single submitter Inborn genetic diseases ⚠
- p.Ala231Val Single submitter Inborn genetic diseases ⚠
- p.Ala360Ser Single submitter Inborn genetic diseases ⚠
- p.Ala383Asp Single submitter Inborn genetic diseases ⚠
- p.Ala404Thr Single submitter Inborn genetic diseases ⚠
- p.Ala446Asp Single submitter Inborn genetic diseases ⚠
- p.Arg21Pro Single submitter Inborn genetic diseases ⚠
- p.Arg221Cys Single submitter Inborn genetic diseases ⚠
- p.Arg221His Single submitter Inborn genetic diseases ⚠
- p.Arg241Gln Single submitter Inborn genetic diseases ⚠
- p.Arg248Cys Single submitter Inborn genetic diseases ⚠
- p.Arg248Leu Single submitter Inborn genetic diseases ⚠
- p.Arg288Cys Single submitter Inborn genetic diseases ⚠
- p.Arg288His Single submitter Inborn genetic diseases ⚠
- p.Arg298His Single submitter Inborn genetic diseases ⚠
- p.Arg298Leu Single submitter Inborn genetic diseases ⚠
- p.Arg316His Single submitter ⚠
- p.Arg317Cys Single submitter Inborn genetic diseases ⚠
- p.Arg317His Single submitter Inborn genetic diseases ⚠
- p.Arg331= Single submitter
- p.Arg33Cys Single submitter Inborn genetic diseases ⚠
- p.Arg33Leu Single submitter Inborn genetic diseases
- p.Arg365Cys Single submitter Inborn genetic diseases ⚠
- p.Arg55Pro Single submitter Inborn genetic diseases ⚠
- p.Arg55Trp Single submitter Inborn genetic diseases ⚠
- p.Arg61Gly Single submitter Inborn genetic diseases ⚠
- p.Asp214Val Single submitter Inborn genetic diseases ⚠
- p.Cys101Gly Single submitter Inborn genetic diseases ⚠
- p.Cys273Arg Single submitter Inborn genetic diseases ⚠
- p.Cys479Phe Single submitter Inborn genetic diseases ⚠
- p.Cys486Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln104Pro Single submitter Inborn genetic diseases ⚠
- p.Gln281Pro Single submitter Inborn genetic diseases ⚠
- p.Gln390Arg Single submitter Inborn genetic diseases ⚠
- p.Glu128Gln Single submitter ⚠
- p.Glu230Asp Single submitter Inborn genetic diseases ⚠
- p.Glu294Lys Single submitter Inborn genetic diseases ⚠
- p.Glu324Lys Single submitter Inborn genetic diseases ⚠
- p.Glu402Gly Single submitter Inborn genetic diseases ⚠
- p.Glu85Asp Single submitter Inborn genetic diseases ⚠
- p.Gly19Arg Single submitter Inborn genetic diseases
- p.Gly373Ser Single submitter Inborn genetic diseases ⚠
- p.Gly40Ser Single submitter Inborn genetic diseases ⚠
- p.Gly465Arg Single submitter Inborn genetic diseases ⚠
- p.Gly46Ser Single submitter Inborn genetic diseases ⚠
- p.Gly57Cys Single submitter Inborn genetic diseases ⚠
- p.Gly69Asp Single submitter Inborn genetic diseases
- p.Gly69Ser Single submitter Inborn genetic diseases ⚠
- p.Ile78_Thr79insSerGlyProSerProProCysIle Single submitter monilethrix-1
- p.Ile78Phe Single submitter Inborn genetic diseases ⚠
- p.Leu361Val Single submitter Inborn genetic diseases ⚠
- p.Leu385Met Single submitter Inborn genetic diseases ⚠
- p.Lys379Glu Single submitter Inborn genetic diseases ⚠
- p.Met271Thr Single submitter Inborn genetic diseases ⚠
- p.Met304Thr Single submitter monilethrix-1 ⚠
- p.Met393Thr Single submitter Inborn genetic diseases ⚠
- p.Phe54Ser Single submitter Inborn genetic diseases ⚠
- p.Pro75Leu Single submitter Inborn genetic diseases ⚠
- p.Pro76Ala Single submitter Inborn genetic diseases ⚠
- p.Ser13Gly Single submitter Inborn genetic diseases ⚠
- p.Ser255Leu Single submitter Inborn genetic diseases ⚠
- p.Ser289Ile Single submitter Inborn genetic diseases ⚠
- p.Ser295Cys Single submitter ⚠
- p.Ser395Cys Single submitter Inborn genetic diseases ⚠
- p.Ser473Phe Single submitter Inborn genetic diseases ⚠
- p.Thr333Met Single submitter Inborn genetic diseases ⚠
- p.Tyr243Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr243Ser Single submitter Inborn genetic diseases ⚠
- p.Val229Met Single submitter Inborn genetic diseases ⚠
- p.Val259Met Single submitter Inborn genetic diseases
- p.Val286Ile Single submitter Inborn genetic diseases ⚠
- p.Val286Phe Single submitter Inborn genetic diseases
- p.Val421Ile Single submitter Inborn genetic diseases ⚠
- p.Val448Leu Single submitter Inborn genetic diseases ⚠
- p.Val456Asp Single submitter Inborn genetic diseases ⚠
- p.Val463Glu Single submitter Inborn genetic diseases ⚠
- p.Val50Met Single submitter Inborn genetic diseases ⚠
- p.Val81Ala Single submitter Inborn genetic diseases ⚠
- c.735+4C>A No assertion criteria