Sugi Variant

Sugi Variant/KRT14

KRT14 — 254 ClinVar variants

All ClinVar germline KRT14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

48 Pathogenic · 8 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 3 Conflicting · 19 Benign · 6 Benign/Likely benign · 44 Likely benign · 97 Uncertain significance

Full KRT14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 2

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

Predictors lean, ClinVar uncertain 60

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

Predictors split 24

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

All KRT14 variants

Pathogenic 48

  • c.927+1G>A Multiple submitters epidermolysis bullosa simplex
  • p.Arg125Cys Multiple submitters KRT14-related disorder
  • p.Arg125His Multiple submitters KRT14-related disorder
  • p.Arg125Leu Multiple submitters
  • p.Glu256Ter Multiple submitters epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Glu411Lys Multiple submitters KRT14-related disorder
  • p.Ile31fs Multiple submitters epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Leu122Phe Multiple submitters KRT14-related disorder
  • p.Met119Thr Multiple submitters epidermolysis bullosa simplex 1A, generalized severe
  • p.Met272Thr Multiple submitters epidermolysis bullosa simplex
  • p.Trp305Ter Multiple submitters epidermolysis bullosa simplex 1A, generalized severe
  • p.Val133Leu Multiple submitters KRT14-related disorder
  • c.1274+5G>C Single submitter epidermolysis bullosa simplex
  • p.Arg125Pro Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Asn123Ser Single submitter epidermolysis bullosa simplex 1A, generalized severe
  • p.Gln374fs Single submitter
  • p.Gln410Ter Single submitter
  • p.Gln7Ter Single submitter Naegeli-Franceschetti-Jadassohn syndrome
  • p.Glu382Ter Single submitter epidermolysis bullosa simplex
  • p.Glu397_Tyr398insTer Single submitter
  • p.Glu409fs Single submitter epidermolysis bullosa simplex 1A, generalized severe
  • p.Glu411del Single submitter epidermolysis bullosa simplex
  • p.Ile412Thr Single submitter
  • p.Leu126Val Single submitter
  • p.Leu130Pro Single submitter
  • p.Leu143Pro Single submitter KRT14-related disorder
  • p.Leu402Arg Single submitter epidermolysis bullosa simplex
  • p.Leu408Gln Single submitter epidermolysis bullosa simplex
  • p.Lys116Ter Single submitter epidermolysis bullosa simplex
  • p.Lys250fs Single submitter epidermolysis bullosa simplex
  • p.Met119Ile Single submitter epidermolysis bullosa simplex 1C, localized
  • p.Met272Arg Single submitter KRT14-related disorder
  • p.Ser128del Single submitter
  • p.Ser321fs Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Tyr129Asp Single submitter epidermolysis bullosa simplex
  • p.Tyr129His Single submitter ⚠
  • p.Tyr162fs Single submitter
  • p.Tyr415Cys Single submitter epidermolysis bullosa simplex ⚠
  • p.Val270Met Single submitter epidermolysis bullosa simplex 1B, generalized intermediate
  • p.Ala105fs No assertion criteria epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Arg416fs No assertion criteria epidermolysis bullosa simplex 1A, generalized severe
  • p.Arg6fs No assertion criteria Naegeli-Franceschetti-Jadassohn syndrome
  • p.Glu144Ala No assertion criteria epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Glu411Ter No assertion criteria epidermolysis bullosa simplex 1B, generalized intermediate
  • p.Glu422Lys No assertion criteria epidermolysis bullosa simplex 1C, localized
  • p.Leu419Gln No assertion criteria epidermolysis bullosa simplex 1A, generalized severe
  • p.Tyr204Ter No assertion criteria epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Tyr415_Glu420del No assertion criteria epidermolysis bullosa simplex 1A, generalized severe

Pathogenic/Likely pathogenic 8

  • p.Arg288Leu Multiple submitters
  • p.Arg388Cys Multiple submitters KRT14-related disorder
  • p.Ile377Thr Multiple submitters KRT14-related disorder
  • p.Met119Val Multiple submitters dermatopathia pigmentosa reticularis
  • p.Tyr129Cys Multiple submitters KRT14-related disorder
  • p.Tyr415His Multiple submitters KRT14-related disorder
  • p.Val133Met Multiple submitters epidermolysis bullosa simplex 1C, localized
  • p.Gln396Ter Single submitter epidermolysis bullosa simplex 1C, localized

Likely pathogenic 29

  • c.526-2A>C Multiple submitters KRT14-related disorder
  • p.Arg388His Multiple submitters dermatopathia pigmentosa reticularis
  • p.Leu384Pro Multiple submitters epidermolysis bullosa simplex 1A, generalized severe
  • p.Val133Gly Multiple submitters KRT14-related disorder
  • p.Asn140Ser Single submitter epidermolysis bullosa simplex 1C, localized
  • p.Asp124Glu Single submitter dermatopathia pigmentosa reticularis
  • p.Asp273Gly Single submitter
  • p.Cys389fs Single submitter
  • p.Cys389Ter Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Cys40Ter Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Gln374Ter Single submitter KRT14-related disorder
  • p.Glu205fs Single submitter epidermolysis bullosa simplex 1A, generalized severe
  • p.Glu322fs Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Glu375del Single submitter epidermolysis bullosa simplex 1C, localized
  • p.Glu411Gly Single submitter epidermolysis bullosa simplex 1C, localized
  • p.Ile169fs Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Ile373_Gln386dup Single submitter
  • p.Ile377Ser Single submitter
  • p.Leu122Val Single submitter
  • p.Leu370Pro Single submitter
  • p.Leu384_Gln393del Single submitter KRT14-related disorder
  • p.Met119Arg Single submitter dermatopathia pigmentosa reticularis
  • p.Met272Lys Single submitter epidermolysis bullosa simplex 1A, generalized severe
  • p.Ser13_Met14insTer Single submitter
  • p.Thr118Ile Single submitter
  • p.Tyr415fs Single submitter
  • p.Tyr415Ter Single submitter KRT14-related disorder
  • p.Val268Ala Single submitter
  • p.Tyr366Asp No assertion criteria HP:0000750; HP:0001263

Conflicting classifications of pathogenicity 3

  • p.Arg30Cys Single submitter epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive
  • p.Arg388Gly Single submitter ⚠
  • p.Asn140Lys Single submitter KRT14-related disorder ⚠

Benign 19

Benign/Likely benign 6

  • c.608+20C>G Multiple submitters
  • p.Ala196= Multiple submitters
  • p.Ala413Thr Multiple submitters epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive ⚠
  • p.Arg56Cys Multiple submitters epidermolysis bullosa simplex 1A, generalized severe ⚠
  • p.Asn209= Multiple submitters
  • p.Gly68Ser Multiple submitters

Likely benign 44

Uncertain significance 97