KRT83 — 249 ClinVar variants
All ClinVar germline KRT83 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 13 Conflicting · 64 Benign · 9 Benign/Likely benign · 32 Likely benign · 127 Uncertain significance
Full KRT83 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT83 p.Ala223Thr
Conflicting
Single submitter
monilethrix
-
KRT83 p.Glu340Lys
Conflicting
Single submitter
monilethrix
-
KRT83 p.Pro475Ser
Conflicting
Single submitter
monilethrix
-
KRT83 p.Ser304Cys
Conflicting
Single submitter
monilethrix
-
KRT83 p.Val264Met
Conflicting
Single submitter
monilethrix
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KRT83 p.Arg321His Uncertain significance Multiple submitters
-
KRT83 p.Glu172Lys
Uncertain significance
Multiple submitters
monilethrix
- KRT83 p.Gly77Arg Uncertain significance Multiple submitters
- KRT83 p.Pro80Leu Uncertain significance Multiple submitters
-
KRT83 p.Thr454Met
Uncertain significance
Multiple submitters
monilethrix-1
- KRT83 p.Val447Met Uncertain significance Multiple submitters
- KRT83 p.Ala379Pro Uncertain significance Single submitter
- KRT83 p.Ala388Ser Uncertain significance Single submitter
- KRT83 p.Ala460Pro Uncertain significance Single submitter
- KRT83 p.Arg13His Uncertain significance Single submitter
- KRT83 p.Arg13Leu Uncertain significance Single submitter
- KRT83 p.Arg168Gln Uncertain significance Single submitter
- KRT83 p.Arg245Ser Uncertain significance Single submitter
- KRT83 p.Arg246Gln Uncertain significance Single submitter
- KRT83 p.Arg253His Uncertain significance Single submitter
- KRT83 p.Arg29His Uncertain significance Single submitter
- KRT83 p.Arg303His Uncertain significance Single submitter
- KRT83 p.Arg322Cys Uncertain significance Single submitter
- KRT83 p.Arg322His Uncertain significance Single submitter
- KRT83 p.Arg332Leu Uncertain significance Single submitter
- KRT83 p.Arg38His Uncertain significance Single submitter
- KRT83 p.Arg421Ser Uncertain significance Single submitter
- KRT83 p.Arg437Gln Uncertain significance Single submitter
- KRT83 p.Arg451Trp Uncertain significance Single submitter
- KRT83 p.Asn233Ser Uncertain significance Single submitter
- KRT83 p.Asn97Thr Uncertain significance Single submitter
- KRT83 p.Asp177Glu Uncertain significance Single submitter
- KRT83 p.Asp405Asn Uncertain significance Single submitter
- KRT83 p.Cys446Tyr Uncertain significance Single submitter
- KRT83 p.Cys473Tyr Uncertain significance Single submitter
- KRT83 p.Gln105Arg Uncertain significance Single submitter
- KRT83 p.Gln147Arg Uncertain significance Single submitter
- KRT83 p.Gln490Pro Uncertain significance Single submitter
- KRT83 p.Glu165Lys Uncertain significance Single submitter
- KRT83 p.Glu170Lys Uncertain significance Single submitter
- KRT83 p.Glu282Asp Uncertain significance Single submitter
-
KRT83 p.Glu297Asp
Uncertain significance
Single submitter
monilethrix
- KRT83 p.Glu329Lys Uncertain significance Single submitter
- KRT83 p.Glu90Lys Uncertain significance Single submitter
-
KRT83 p.Gly162Val
Uncertain significance
Single submitter
monilethrix
- KRT83 p.Gly24Arg Uncertain significance Single submitter
- KRT83 p.Gly417Val Uncertain significance Single submitter
- KRT83 p.Gly464Arg Uncertain significance Single submitter
- KRT83 p.Gly57Ala Uncertain significance Single submitter
-
KRT83 p.Gly58Ala
Uncertain significance
Single submitter
monilethrix
-
KRT83 p.Gly62Ser
Uncertain significance
Single submitter
monilethrix
- KRT83 p.His493Arg Uncertain significance Single submitter
- KRT83 p.Ile40Leu Uncertain significance Single submitter
- KRT83 p.Ile40Val Uncertain significance Single submitter
- KRT83 p.Ile8Thr Uncertain significance Single submitter
- KRT83 p.Leu118Phe Uncertain significance Single submitter
- KRT83 p.Leu268Pro Uncertain significance Single submitter
- KRT83 p.Leu330Val Uncertain significance Single submitter
- KRT83 p.Met309Val Uncertain significance Single submitter
- KRT83 p.Met333Ile Uncertain significance Single submitter
- KRT83 p.Met398Thr Uncertain significance Single submitter
- KRT83 p.Pro25Ser Uncertain significance Single submitter
- KRT83 p.Pro80Ala Uncertain significance Single submitter
- KRT83 p.Pro80Arg Uncertain significance Single submitter
- KRT83 p.Pro81Gln Uncertain significance Single submitter
- KRT83 p.Ser21Pro Uncertain significance Single submitter
- KRT83 p.Ser260Pro Uncertain significance Single submitter
- KRT83 p.Ser271Asn Uncertain significance Single submitter
-
KRT83 p.Ser28Ile
Uncertain significance
Single submitter
monilethrix
- KRT83 p.Ser367Arg Uncertain significance Single submitter
- KRT83 p.Ser448Ala Uncertain significance Single submitter
- KRT83 p.Ser469Gly Uncertain significance Single submitter
- KRT83 p.Ser487Phe Uncertain significance Single submitter
- KRT83 p.Ser54Thr Uncertain significance Single submitter
- KRT83 p.Thr292Ala Uncertain significance Single submitter
- KRT83 p.Thr33Asn Uncertain significance Single submitter
- KRT83 p.Thr33Ile Uncertain significance Single submitter
- KRT83 p.Thr481Asn Uncertain significance Single submitter
- KRT83 p.Val191Leu Uncertain significance Single submitter
- KRT83 p.Val75Leu Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- KRT83 p.Arg130Cys Uncertain significance Multiple submitters
-
KRT83 p.Arg168Trp
Uncertain significance
Multiple submitters
monilethrix
-
KRT83 p.Arg272Gln
Uncertain significance
Multiple submitters
monilethrix
- KRT83 p.Arg272Trp Uncertain significance Multiple submitters
- KRT83 p.Arg293His Uncertain significance Multiple submitters
- KRT83 p.Arg321Cys Uncertain significance Multiple submitters
- KRT83 p.Glu249Gln Uncertain significance Multiple submitters
- KRT83 p.Gly58Asp Uncertain significance Multiple submitters
-
KRT83 p.Ile279Met
Benign
Multiple submitters
monilethrix
- KRT83 p.Ala298Thr Uncertain significance Single submitter
- KRT83 p.Ala388Val Uncertain significance Single submitter
- KRT83 p.Ala409Thr Uncertain significance Single submitter
-
KRT83 p.Arg130His
Conflicting
Single submitter
monilethrix
- KRT83 p.Arg169Trp Uncertain significance Single submitter
- KRT83 p.Arg246Trp Uncertain significance Single submitter
-
KRT83 p.Arg293Cys
Conflicting
Single submitter
monilethrix
- KRT83 p.Arg370Cys Uncertain significance Single submitter
- KRT83 p.Arg413Cys Uncertain significance Single submitter
- KRT83 p.Asp127Asn Uncertain significance Single submitter
- KRT83 p.Gln134Glu Uncertain significance Single submitter
- KRT83 p.Glu113Gln Uncertain significance Single submitter
- KRT83 p.Glu202Asp Uncertain significance Single submitter
- KRT83 p.Glu282Gln Uncertain significance Single submitter
- KRT83 p.Glu282Lys Conflicting Single submitter
- KRT83 p.Glu375Lys Uncertain significance Single submitter
- KRT83 p.Gly11Glu Uncertain significance Single submitter
- KRT83 p.Gly403Val Uncertain significance Single submitter
- KRT83 p.Gly9Val Uncertain significance Single submitter
- KRT83 p.Lys267Asn Uncertain significance Single submitter
-
KRT83 p.Met276Ile
Conflicting
Single submitter
monilethrix
- KRT83 p.Met276Thr Uncertain significance Single submitter
- KRT83 p.Ser117Tyr Uncertain significance Single submitter
-
KRT83 p.Ser434Arg
Conflicting
Single submitter
monilethrix
- KRT83 p.Ser54Arg Uncertain significance Single submitter
-
KRT83 p.Ser87Leu
Uncertain significance
Single submitter
monilethrix
- KRT83 p.Thr141Ser Uncertain significance Single submitter
- KRT83 p.Thr410Ala Uncertain significance Single submitter
- KRT83 p.Val107Met Uncertain significance Single submitter
All KRT83 variants
Pathogenic 1
- p.Glu418Lys No assertion criteria monilethrix-3
Likely pathogenic 3
- p.Glu407Lys Multiple submitters monilethrix
- p.Leu415Arg Single submitter
- p.Pro27fs Single submitter erythrokeratodermia variabilis et progressiva 5
Conflicting classifications of pathogenicity 13
- p.Ala223Thr Single submitter monilethrix ⚠
- p.Arg130His Single submitter monilethrix ⚠
- p.Arg293Cys Single submitter monilethrix ⚠
- p.Glu282Lys Single submitter ⚠
- p.Glu340Lys Single submitter monilethrix ⚠
- p.Met276Ile Single submitter monilethrix ⚠
- p.Pro25fs Single submitter monilethrix-1
- p.Pro452= Single submitter monilethrix
- p.Pro475Ser Single submitter monilethrix ⚠
- p.Ser271fs Single submitter erythrokeratodermia variabilis et progressiva 5
- p.Ser304Cys Single submitter monilethrix ⚠
- p.Ser434Arg Single submitter monilethrix ⚠
- p.Val264Met Single submitter monilethrix ⚠
Benign 64
- c.1041+54G>A Multiple submitters
- c.1041+6A>G Multiple submitters monilethrix
- c.1042-140T>C Multiple submitters
- c.1042-4C>A Multiple submitters monilethrix
- c.1042-84G>T Multiple submitters
- c.1262+248T>C Multiple submitters
- c.1263-95A>G Multiple submitters
- c.1294+118A>G Multiple submitters
- c.1294+64A>G Multiple submitters
- c.385-70G>A Multiple submitters
- c.593+42T>C Multiple submitters
- c.594-22C>T Multiple submitters
- c.655-64G>A Multiple submitters
- c.750+15A>G Multiple submitters monilethrix
- c.750+49T>C Multiple submitters
- c.750+90C>G Multiple submitters
- c.751-106T>C Multiple submitters
- c.751-90A>G Multiple submitters
- c.751-91C>T Multiple submitters
- c.*138C>T Multiple submitters monilethrix
- c.*174C>T Multiple submitters monilethrix
- c.*23G>T Multiple submitters monilethrix
- p.Ala104= Multiple submitters monilethrix
- p.Ala281= Multiple submitters monilethrix
- p.Ala353= Multiple submitters monilethrix
- p.Arg121= Multiple submitters monilethrix
- p.Arg149Cys Multiple submitters monilethrix
- p.Arg315= Multiple submitters monilethrix
- p.Asn186= Multiple submitters monilethrix
- p.Asn211= Multiple submitters monilethrix
- p.Asn233= Multiple submitters monilethrix
- p.Asn328= Multiple submitters monilethrix
- p.Asp444= Multiple submitters monilethrix
- p.Cys151Tyr Multiple submitters monilethrix
- p.Cys222= Multiple submitters monilethrix
- p.Cys23Gly Multiple submitters monilethrix
- p.Glu201Ter Multiple submitters monilethrix
- p.Glu352= Multiple submitters monilethrix
- p.Gly362Ser Multiple submitters monilethrix
- p.Gly471Asp Multiple submitters monilethrix
- p.His493Tyr Multiple submitters monilethrix
- p.Ile279Met Multiple submitters monilethrix ⚠
- p.Phe160= Multiple submitters monilethrix
- c.1041+12C>T Single submitter
- c.1041+150G>A Single submitter
- c.1041+5C>T Single submitter monilethrix
- c.1295-129_1295-128insCCACA Single submitter
- c.384+314C>T Single submitter
- c.385-269A>T Single submitter
- c.385-52del Single submitter
- c.593+123C>T Single submitter
- c.593+127T>C Single submitter
- c.593+15G>A Single submitter monilethrix
- c.593+194G>A Single submitter
- c.750+249A>G Single submitter
- p.Arg226Cys Single submitter monilethrix
- p.Cys64Ter Single submitter monilethrix
- p.Glu111del Single submitter
- p.Glu202del Single submitter
- p.Gly74= Single submitter
- p.Ile40Asn Single submitter
- p.Thr166Ser Single submitter monilethrix
- p.Val174Leu Single submitter monilethrix
- p.Ala354Thr No assertion criteria KRT83-related disorder
Benign/Likely benign 9
- p.Ala339= Multiple submitters monilethrix
- p.Cys222Ter Multiple submitters
- p.Cys423Ser Multiple submitters monilethrix
- p.Cys446= Multiple submitters monilethrix
- p.Gln256= Multiple submitters monilethrix
- p.Gly443Arg Multiple submitters monilethrix
- p.Gly49= Multiple submitters monilethrix
- p.Ile254Val Multiple submitters monilethrix
- p.Ser367Asn Multiple submitters monilethrix
Likely benign 32
- c.1041+13G>A Multiple submitters
- p.Thr319= Multiple submitters monilethrix
- c.1041+9G>T Single submitter
- c.1294+10T>G Single submitter
- c.1294+8T>A Single submitter
- c.385-20G>A Single submitter
- c.593+17G>A Single submitter
- c.751-4G>A Single submitter
- c.915+7G>A Single submitter
- c.915+8G>T Single submitter
- p.Ala104Thr Single submitter monilethrix
- p.Ala298= Single submitter
- p.Arg38= Single submitter
- p.Asp219Glu Single submitter
- p.Asp368= Single submitter
- p.Cys389= Single submitter
- p.Gln239Arg Single submitter
- p.Glu110= Single submitter
- p.Gly489Ser Single submitter
- p.Ile100= Single submitter
- p.Ile252= Single submitter
- p.Ile8Met Single submitter
- p.Pro27= Single submitter
- p.Ser28Gly Single submitter
- p.Ser436= Single submitter
- p.Ser448= Single submitter
- p.Ser450= Single submitter
- p.Thr454= Single submitter
- p.Val174Met Single submitter
- p.Val457Ile Single submitter
- c.385-9G>C No assertion criteria KRT83-related disorder
- p.Ala460= No assertion criteria KRT83-related disorder
Uncertain significance 127
- p.Arg130Cys Multiple submitters ⚠
- p.Arg168Trp Multiple submitters monilethrix ⚠
- p.Arg272Gln Multiple submitters monilethrix ⚠
- p.Arg272Trp Multiple submitters ⚠
- p.Arg293His Multiple submitters ⚠
- p.Arg321Cys Multiple submitters ⚠
- p.Arg321His Multiple submitters ⚠
- p.Glu172Lys Multiple submitters monilethrix ⚠
- p.Glu249Gln Multiple submitters ⚠
- p.Gly58Asp Multiple submitters ⚠
- p.Gly77Arg Multiple submitters ⚠
- p.Pro80Leu Multiple submitters ⚠
- p.Thr454Met Multiple submitters monilethrix-1 ⚠
- p.Val447Met Multiple submitters ⚠
- c.1041+5_1041+6inv Single submitter
- c.385-3C>T Single submitter
- c.915+5G>A Single submitter
- c.-58C>A Single submitter monilethrix
- c.*102T>G Single submitter monilethrix
- c.*107T>G Single submitter monilethrix
- c.*135C>T Single submitter monilethrix
- c.*225C>T Single submitter monilethrix
- c.*268A>C Single submitter monilethrix
- c.*44C>T Single submitter monilethrix
- c.*60C>A Single submitter monilethrix
- p.Ala298Thr Single submitter ⚠
- p.Ala34Pro Single submitter
- p.Ala379Pro Single submitter ⚠
- p.Ala388Ser Single submitter ⚠
- p.Ala388Val Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala460Pro Single submitter ⚠
- p.Ala61= Single submitter monilethrix
- p.Arg13His Single submitter ⚠
- p.Arg13Leu Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg169Trp Single submitter ⚠
- p.Arg245Ser Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg303His Single submitter ⚠
- p.Arg322Cys Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg332Leu Single submitter ⚠
- p.Arg370Cys Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg421Ser Single submitter ⚠
- p.Arg437Gln Single submitter ⚠
- p.Arg451Trp Single submitter ⚠
- p.Asn233Ser Single submitter ⚠
- p.Asn97Thr Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp177Glu Single submitter ⚠
- p.Asp405Asn Single submitter ⚠
- p.Cys30Arg Single submitter
- p.Cys389Ter Single submitter monilethrix-1
- p.Cys446Tyr Single submitter ⚠
- p.Cys473Tyr Single submitter ⚠
- p.Gln105Arg Single submitter ⚠
- p.Gln134Glu Single submitter ⚠
- p.Gln147Arg Single submitter ⚠
- p.Gln490Pro Single submitter ⚠
- p.Glu113Gln Single submitter ⚠
- p.Glu165Lys Single submitter ⚠
- p.Glu170Lys Single submitter ⚠
- p.Glu202Asp Single submitter ⚠
- p.Glu282Asp Single submitter ⚠
- p.Glu282Gln Single submitter ⚠
- p.Glu297Asp Single submitter monilethrix ⚠
- p.Glu329Lys Single submitter ⚠
- p.Glu375Lys Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly162Val Single submitter monilethrix ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly403Val Single submitter ⚠
- p.Gly417Val Single submitter ⚠
- p.Gly464Arg Single submitter ⚠
- p.Gly57Ala Single submitter ⚠
- p.Gly58Ala Single submitter monilethrix ⚠
- p.Gly62Ser Single submitter monilethrix ⚠
- p.Gly9Val Single submitter ⚠
- p.His258fs Single submitter monilethrix
- p.His493Arg Single submitter ⚠
- p.Ile40Leu Single submitter ⚠
- p.Ile40Val Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Leu118Phe Single submitter ⚠
- p.Leu159fs Single submitter
- p.Leu268Pro Single submitter ⚠
- p.Leu330Val Single submitter ⚠
- p.Leu466= Single submitter monilethrix
- p.Lys267Asn Single submitter ⚠
- p.Met276Thr Single submitter ⚠
- p.Met309Val Single submitter ⚠
- p.Met333Ile Single submitter ⚠
- p.Met398Thr Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro475= Single submitter monilethrix
- p.Pro80Ala Single submitter ⚠
- p.Pro80Arg Single submitter ⚠
- p.Pro81Gln Single submitter ⚠
- p.Ser117Tyr Single submitter ⚠
- p.Ser21Pro Single submitter ⚠
- p.Ser260Pro Single submitter ⚠
- p.Ser271Asn Single submitter ⚠
- p.Ser28Ile Single submitter monilethrix ⚠
- p.Ser367Arg Single submitter ⚠
- p.Ser448Ala Single submitter ⚠
- p.Ser469Gly Single submitter ⚠
- p.Ser487Phe Single submitter ⚠
- p.Ser54Arg Single submitter ⚠
- p.Ser54Thr Single submitter ⚠
- p.Ser87Leu Single submitter monilethrix ⚠
- p.Thr141Ser Single submitter ⚠
- p.Thr292Ala Single submitter ⚠
- p.Thr338= Single submitter monilethrix
- p.Thr33Asn Single submitter ⚠
- p.Thr33Ile Single submitter ⚠
- p.Thr410Ala Single submitter ⚠
- p.Thr481Asn Single submitter ⚠
- p.Val107Met Single submitter ⚠
- p.Val191Leu Single submitter ⚠
- p.Val75Leu Single submitter ⚠