KRT18 — 42 ClinVar variants
All ClinVar germline KRT18 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
4 Benign · 3 Likely benign · 35 Uncertain significance
Full KRT18 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KRT18 p.Gly69Ala
Uncertain significance
Multiple submitters
cirrhosis, familial
- KRT18 p.Ala173Gly Uncertain significance Single submitter
- KRT18 p.Ala395Val Uncertain significance Single submitter
- KRT18 p.Asn423Ser Uncertain significance Single submitter
-
KRT18 p.Asp181Asn
Uncertain significance
Single submitter
cirrhosis, familial
- KRT18 p.Gln304Glu Uncertain significance Single submitter
- KRT18 p.Gln351His Uncertain significance Single submitter
- KRT18 p.Glu102Val Uncertain significance Single submitter
-
KRT18 p.Glu200Gly
Uncertain significance
Single submitter
cirrhosis, familial
- KRT18 p.Glu204Lys Uncertain significance Single submitter
- KRT18 p.Glu346Lys Uncertain significance Single submitter
- KRT18 p.Gly223Asp Uncertain significance Single submitter
- KRT18 p.Leu185Phe Uncertain significance Single submitter
- KRT18 p.Lys119Arg Uncertain significance Single submitter
- KRT18 p.Lys187Asn Uncertain significance Single submitter
- KRT18 p.Lys426Thr Uncertain significance Single submitter
- KRT18 p.Met174Thr Uncertain significance Single submitter
- KRT18 p.Pro28Leu Uncertain significance Single submitter
- KRT18 p.Ser86Thr Uncertain significance Single submitter
- KRT18 p.Thr294Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- KRT18 p.Arg186His Uncertain significance Single submitter
- KRT18 p.Arg330His Uncertain significance Single submitter
- KRT18 p.Arg381His Uncertain significance Single submitter
- KRT18 p.Arg6Gly Uncertain significance Single submitter
- KRT18 p.Glu102Asp Uncertain significance Single submitter
- KRT18 p.Glu258Lys Uncertain significance Single submitter
- KRT18 p.Glu348Gln Uncertain significance Single submitter
- KRT18 p.Glu388Lys Uncertain significance Single submitter
- KRT18 p.Leu324Met Uncertain significance Single submitter
- KRT18 p.Met249Ile Uncertain significance Single submitter
- KRT18 p.Phe390Ser Uncertain significance Single submitter
- KRT18 p.Thr4Ile Uncertain significance Single submitter
- KRT18 p.Tyr36Ser Uncertain significance Single submitter
- KRT18 p.Val414Glu Uncertain significance Single submitter
All KRT18 variants
Benign 4
- p.Ala92Pro Single submitter
- p.Arg90Cys Single submitter
- p.Gly59fs Single submitter
- p.Ser100Arg Single submitter
Likely benign 3
- p.Ser230Thr Multiple submitters
- c.822+5G>A Single submitter
- p.Val19= Single submitter
Uncertain significance 35
- p.Gly69Ala Multiple submitters cirrhosis, familial ⚠
- p.Ala173Gly Single submitter ⚠
- p.Ala395Val Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg330His Single submitter ⚠
- p.Arg353Trp Single submitter
- p.Arg381His Single submitter ⚠
- p.Arg6Gly Single submitter ⚠
- p.Asn423Ser Single submitter ⚠
- p.Asp181Asn Single submitter cirrhosis, familial ⚠
- p.Gln304Glu Single submitter ⚠
- p.Gln351His Single submitter ⚠
- p.Glu102Asp Single submitter ⚠
- p.Glu102Val Single submitter ⚠
- p.Glu200Gly Single submitter cirrhosis, familial ⚠
- p.Glu204Lys Single submitter ⚠
- p.Glu258Lys Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu348Gln Single submitter ⚠
- p.Glu388Lys Single submitter ⚠
- p.Gly223Asp Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu324Met Single submitter ⚠
- p.Lys119Arg Single submitter ⚠
- p.Lys187Asn Single submitter ⚠
- p.Lys426Thr Single submitter ⚠
- p.Met174Thr Single submitter ⚠
- p.Met249Ile Single submitter ⚠
- p.Phe390Ser Single submitter ⚠
- p.Pro28Leu Single submitter ⚠
- p.Ser86Thr Single submitter ⚠
- p.Thr294Ala Single submitter ⚠
- p.Thr4Ile Single submitter ⚠
- p.Tyr36Ser Single submitter ⚠
- p.Val414Glu Single submitter ⚠