KRT4 — 198 ClinVar variants
All ClinVar germline KRT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
3 Pathogenic · 14 Conflicting · 36 Benign · 9 Benign/Likely benign · 28 Likely benign · 108 Uncertain significance
Full KRT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KRT4 p.Ala328Val
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Asp267Glu
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu159Lys
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly11Arg
Conflicting
Single submitter
white sponge nevus 1
-
KRT4 p.Gly500Asp
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Phe498Ser
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Pro121Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr120Asn
Conflicting
Single submitter
white sponge nevus 1
-
KRT4 p.Thr176Met
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Val65Met
Conflicting
Single submitter
white sponge nevus 1
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT4 p.Ala106Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT4 p.Ala106Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala29Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala313Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala324Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala328Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg138Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg13Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg300Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg401His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg519Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg69Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg9Gly
Uncertain significance
Single submitter
white sponge nevus 1
-
KRT4 p.Asn115Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asn239Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asn299Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asn392Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asn517Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Cys42Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gln320His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu268Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu403Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu453Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly474Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly71Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.His286Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile114Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile126Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile2Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile372Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile436Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile511Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile511Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Leu118Trp
Uncertain significance
Single submitter
white sponge nevus 1
-
KRT4 p.Leu244Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Leu294Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Leu358Val
Uncertain significance
Single submitter
white sponge nevus 1
-
KRT4 p.Leu55Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Lys226Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser291Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser291Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser31Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser36Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser464Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser473Cys
Uncertain significance
Single submitter
white sponge nevus 1
-
KRT4 p.Ser485Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr120Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr235Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Tyr422Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val103Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val22Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val287Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val292Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val334Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val458Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly477Val
Uncertain significance
No assertion criteria
KRT4-related disorder
Predictors split 44
The independent predictors disagree with each other — read with care.
-
KRT4 p.Arg440Cys
Benign/Likely benign
Multiple submitters
white sponge nevus 1
-
KRT4 p.Asp153Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KRT4 p.Ala20Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala278Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala278Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala437Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ala437Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg134Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg13Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg208His
Benign
Single submitter
white sponge nevus 1
-
KRT4 p.Arg234Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg300His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg312Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg360Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg366Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg420Cys
Benign
Single submitter
white sponge nevus 1
-
KRT4 p.Arg420His
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Arg420Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asp240Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Asp396Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu111Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu136Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu139Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu259Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu354Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Glu413Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly40Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly45Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly477Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Gly481Arg
Uncertain significance
Single submitter
white sponge nevus 1
-
KRT4 p.Gly499Arg
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Ile355Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Leu122Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Lys352Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Ser34Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr113Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr167Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr290Met
Likely benign
Single submitter
Inborn genetic diseases
-
KRT4 p.Thr514Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val220Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val248Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
KRT4 p.Val256Met
Conflicting
Single submitter
Inborn genetic diseases
-
KRT4 p.Val8Asp
Uncertain significance
Single submitter
Inborn genetic diseases
All KRT4 variants
Pathogenic 3
- p.Asn146del No assertion criteria white sponge nevus 1
- p.Gln140delinsHisLys No assertion criteria white sponge nevus 1
- p.Glu435Lys No assertion criteria white sponge nevus 1
Conflicting classifications of pathogenicity 14
- p.Ala328Val Single submitter Inborn genetic diseases ⚠
- p.Arg420His Single submitter Inborn genetic diseases ⚠
- p.Asp267Glu Single submitter Inborn genetic diseases ⚠
- p.Glu159Lys Single submitter Inborn genetic diseases ⚠
- p.Gly11Arg Single submitter white sponge nevus 1 ⚠
- p.Gly18= Single submitter white sponge nevus 1
- p.Gly499Arg Single submitter Inborn genetic diseases ⚠
- p.Gly500Asp Single submitter Inborn genetic diseases ⚠
- p.Phe498Ser Single submitter Inborn genetic diseases ⚠
- p.Pro121Thr Single submitter Inborn genetic diseases ⚠
- p.Thr120Asn Single submitter white sponge nevus 1 ⚠
- p.Thr176Met Single submitter Inborn genetic diseases ⚠
- p.Val256Met Single submitter Inborn genetic diseases ⚠
- p.Val65Met Single submitter white sponge nevus 1 ⚠
Benign 36
- c.1126-32G>A Multiple submitters
- c.1346+15A>G Multiple submitters white sponge nevus 1
- c.1381+15C>T Multiple submitters white sponge nevus 1
- c.462+60G>A Multiple submitters
- c.677+104G>A Multiple submitters
- c.678-14G>A Multiple submitters white sponge nevus 1
- c.678-157A>G Multiple submitters
- c.678-3C>T Multiple submitters white sponge nevus 1
- c.738+16T>G Multiple submitters
- c.739-214A>G Multiple submitters
- c.835-225C>T Multiple submitters
- c.999+90A>G Multiple submitters
- c.-51G>A Multiple submitters white sponge nevus 1
- c.*133C>T Multiple submitters white sponge nevus 1
- c.*269A>G Multiple submitters white sponge nevus 1
- p.Ala72Val Multiple submitters white sponge nevus 1
- p.Arg41Gln Multiple submitters white sponge nevus 1
- p.Gln156Arg Multiple submitters white sponge nevus 1
- p.Phe89= Multiple submitters white sponge nevus 1
- p.Ser340= Multiple submitters white sponge nevus 1
- p.Thr135Met Multiple submitters white sponge nevus 1
- c.463-278C>T Single submitter
- c.738+213T>C Single submitter
- c.835-4G>T Single submitter white sponge nevus 1
- c.*267G>A Single submitter white sponge nevus 1
- c.*30T>A Single submitter white sponge nevus 1
- c.*68C>T Single submitter white sponge nevus 1
- c.*81T>A Single submitter white sponge nevus 1
- p.Arg208His Single submitter white sponge nevus 1 ⚠
- p.Arg420Cys Single submitter white sponge nevus 1 ⚠
- p.Gly504= Single submitter white sponge nevus 1
- p.Gly87= Single submitter white sponge nevus 1
- p.Lys96= Single submitter white sponge nevus 1
- p.Pro186= Single submitter white sponge nevus 1
- p.Ser473= Single submitter white sponge nevus 1
- p.Thr290= Single submitter white sponge nevus 1
Benign/Likely benign 9
- p.Arg360= Multiple submitters white sponge nevus 1
- p.Arg401= Multiple submitters white sponge nevus 1
- p.Arg440Cys Multiple submitters white sponge nevus 1 ⚠
- p.Asn183Ser Multiple submitters white sponge nevus 1
- p.Gly75Glu Multiple submitters white sponge nevus 1
- p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly Multiple submitters
- p.Ile152= Multiple submitters white sponge nevus 1
- p.Pro102= Multiple submitters white sponge nevus 1
- p.Ser291= Multiple submitters white sponge nevus 1
Likely benign 28
- c.1346+15A>T Multiple submitters white sponge nevus 1
- p.His398Tyr Multiple submitters Inborn genetic diseases
- p.Val402Ile Multiple submitters white sponge nevus 1
- c.678-15C>T Single submitter
- c.-54A>T Single submitter white sponge nevus 1
- p.Asp267= Single submitter white sponge nevus 1
- p.Cys7Gly Single submitter Inborn genetic diseases
- p.Gln156Ter Single submitter white sponge nevus 1
- p.Gln173= Single submitter
- p.Glu185Asp Single submitter Inborn genetic diseases
- p.Gly24Ser Single submitter Inborn genetic diseases
- p.Gly474= Single submitter
- p.Gly489= Single submitter
- p.Ile318= Single submitter white sponge nevus 1
- p.Ile339Thr Single submitter Inborn genetic diseases
- p.Ile372Val Single submitter Inborn genetic diseases
- p.Leu171= Single submitter white sponge nevus 1
- p.Leu52= Single submitter
- p.Leu55= Single submitter
- p.Ser353Asn Single submitter Inborn genetic diseases
- p.Ser486= Single submitter
- p.Ser486Gly Single submitter Inborn genetic diseases
- p.Thr290Met Single submitter Inborn genetic diseases ⚠
- p.Tyr315= Single submitter white sponge nevus 1
- p.Val383Met Single submitter white sponge nevus 1
- p.Val462= Single submitter white sponge nevus 1
- p.Asp240= No assertion criteria KRT4-related disorder
- p.Leu52fs No assertion criteria white sponge nevus 1
Uncertain significance 108
- p.Ala106Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp153Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp247Glu Multiple submitters Inborn genetic diseases
- c.1347-3C>T Single submitter white sponge nevus 1
- c.463-9T>C Single submitter white sponge nevus 1
- c.677+4C>T Single submitter white sponge nevus 1
- c.678-10C>T Single submitter white sponge nevus 1
- c.*126C>A Single submitter white sponge nevus 1
- c.*289G>A Single submitter white sponge nevus 1
- c.*405G>A Single submitter white sponge nevus 1
- c.*496T>G Single submitter white sponge nevus 1
- p.Ala106Thr Single submitter Inborn genetic diseases ⚠
- p.Ala20Asp Single submitter Inborn genetic diseases ⚠
- p.Ala278Glu Single submitter Inborn genetic diseases ⚠
- p.Ala278Val Single submitter Inborn genetic diseases ⚠
- p.Ala29Val Single submitter Inborn genetic diseases ⚠
- p.Ala313Thr Single submitter Inborn genetic diseases ⚠
- p.Ala324Thr Single submitter Inborn genetic diseases ⚠
- p.Ala328Thr Single submitter Inborn genetic diseases ⚠
- p.Ala437Ser Single submitter Inborn genetic diseases ⚠
- p.Ala437Thr Single submitter Inborn genetic diseases ⚠
- p.Arg134Trp Single submitter Inborn genetic diseases ⚠
- p.Arg138Cys Single submitter white sponge nevus 1
- p.Arg138Gly Single submitter Inborn genetic diseases ⚠
- p.Arg13Gln Single submitter Inborn genetic diseases ⚠
- p.Arg13Trp Single submitter Inborn genetic diseases ⚠
- p.Arg234Cys Single submitter Inborn genetic diseases ⚠
- p.Arg300Cys Single submitter Inborn genetic diseases ⚠
- p.Arg300His Single submitter Inborn genetic diseases ⚠
- p.Arg312Cys Single submitter Inborn genetic diseases ⚠
- p.Arg360Lys Single submitter Inborn genetic diseases ⚠
- p.Arg366Trp Single submitter Inborn genetic diseases ⚠
- p.Arg401His Single submitter Inborn genetic diseases ⚠
- p.Arg420Leu Single submitter Inborn genetic diseases ⚠
- p.Arg519Gly Single submitter Inborn genetic diseases ⚠
- p.Arg69Pro Single submitter Inborn genetic diseases ⚠
- p.Arg9Gly Single submitter white sponge nevus 1 ⚠
- p.Asn115Ile Single submitter Inborn genetic diseases ⚠
- p.Asn239Ser Single submitter Inborn genetic diseases ⚠
- p.Asn299Ser Single submitter Inborn genetic diseases ⚠
- p.Asn392Lys Single submitter Inborn genetic diseases ⚠
- p.Asn517Ser Single submitter Inborn genetic diseases ⚠
- p.Asp240Asn Single submitter Inborn genetic diseases ⚠
- p.Asp396Glu Single submitter Inborn genetic diseases ⚠
- p.Cys42Ser Single submitter Inborn genetic diseases ⚠
- p.Gln320His Single submitter Inborn genetic diseases ⚠
- p.Glu111Gly Single submitter Inborn genetic diseases ⚠
- p.Glu136Lys Single submitter Inborn genetic diseases ⚠
- p.Glu139Lys Single submitter Inborn genetic diseases ⚠
- p.Glu259Gly Single submitter Inborn genetic diseases ⚠
- p.Glu268Ala Single submitter Inborn genetic diseases ⚠
- p.Glu354Asp Single submitter Inborn genetic diseases ⚠
- p.Glu403Asp Single submitter Inborn genetic diseases ⚠
- p.Glu413Lys Single submitter Inborn genetic diseases ⚠
- p.Glu453Ala Single submitter Inborn genetic diseases ⚠
- p.Gly107Val Single submitter Inborn genetic diseases ⚠
- p.Gly40Asp Single submitter Inborn genetic diseases ⚠
- p.Gly45Trp Single submitter Inborn genetic diseases ⚠
- p.Gly474Arg Single submitter Inborn genetic diseases ⚠
- p.Gly477Glu Single submitter Inborn genetic diseases ⚠
- p.Gly481Arg Single submitter white sponge nevus 1 ⚠
- p.Gly71Ser Single submitter Inborn genetic diseases ⚠
- p.His286Arg Single submitter Inborn genetic diseases ⚠
- p.Ile114Ser Single submitter Inborn genetic diseases ⚠
- p.Ile126Thr Single submitter Inborn genetic diseases ⚠
- p.Ile2Thr Single submitter Inborn genetic diseases ⚠
- p.Ile355Thr Single submitter Inborn genetic diseases ⚠
- p.Ile372Phe Single submitter Inborn genetic diseases ⚠
- p.Ile436Met Single submitter Inborn genetic diseases ⚠
- p.Ile511Thr Single submitter Inborn genetic diseases ⚠
- p.Ile511Val Single submitter Inborn genetic diseases ⚠
- p.Leu118Trp Single submitter white sponge nevus 1 ⚠
- p.Leu122Val Single submitter Inborn genetic diseases ⚠
- p.Leu244Pro Single submitter Inborn genetic diseases ⚠
- p.Leu294Phe Single submitter Inborn genetic diseases ⚠
- p.Leu358Val Single submitter white sponge nevus 1 ⚠
- p.Leu55Pro Single submitter Inborn genetic diseases ⚠
- p.Lys226Asn Single submitter Inborn genetic diseases ⚠
- p.Lys352Asn Single submitter Inborn genetic diseases ⚠
- p.Ser219Arg Single submitter Inborn genetic diseases
- p.Ser291Phe Single submitter Inborn genetic diseases ⚠
- p.Ser291Thr Single submitter Inborn genetic diseases ⚠
- p.Ser31Asn Single submitter Inborn genetic diseases
- p.Ser31Cys Single submitter Inborn genetic diseases ⚠
- p.Ser34Pro Single submitter Inborn genetic diseases ⚠
- p.Ser36Phe Single submitter Inborn genetic diseases ⚠
- p.Ser464Asn Single submitter Inborn genetic diseases ⚠
- p.Ser473Cys Single submitter white sponge nevus 1 ⚠
- p.Ser485Arg Single submitter Inborn genetic diseases ⚠
- p.Ser62= Single submitter white sponge nevus 1
- p.Thr113Ile Single submitter Inborn genetic diseases ⚠
- p.Thr120Ala Single submitter Inborn genetic diseases ⚠
- p.Thr135= Single submitter white sponge nevus 1
- p.Thr167Ala Single submitter Inborn genetic diseases ⚠
- p.Thr235Ile Single submitter Inborn genetic diseases ⚠
- p.Thr514Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr422Cys Single submitter Inborn genetic diseases ⚠
- p.Val103Ile Single submitter Inborn genetic diseases ⚠
- p.Val220Met Single submitter Inborn genetic diseases ⚠
- p.Val22Ala Single submitter Inborn genetic diseases ⚠
- p.Val242= Single submitter white sponge nevus 1
- p.Val248Ala Single submitter Inborn genetic diseases ⚠
- p.Val287Ile Single submitter Inborn genetic diseases ⚠
- p.Val292Met Single submitter Inborn genetic diseases ⚠
- p.Val334Phe Single submitter Inborn genetic diseases ⚠
- p.Val458Leu Single submitter Inborn genetic diseases ⚠
- p.Val8Asp Single submitter Inborn genetic diseases ⚠
- p.Gly477Val No assertion criteria KRT4-related disorder ⚠