PSKH1 — 60 ClinVar variants
All ClinVar germline PSKH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 2 Likely benign · 54 Uncertain significance
Full PSKH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PSKH1 p.Asn301Ser Uncertain significance Multiple submitters
- PSKH1 p.Ala287Val Uncertain significance Single submitter
- PSKH1 p.Ala342Gly Uncertain significance Single submitter
- PSKH1 p.Arg121Gln Uncertain significance Single submitter
- PSKH1 p.Arg134Pro Uncertain significance Single submitter
- PSKH1 p.Arg207Gln Uncertain significance Single submitter
- PSKH1 p.Arg307Gln Uncertain significance Single submitter
- PSKH1 p.Arg396His Uncertain significance Single submitter
- PSKH1 p.Arg404His Uncertain significance Single submitter
- PSKH1 p.Arg405His Uncertain significance Single submitter
- PSKH1 p.Arg412Gln Uncertain significance Single submitter
- PSKH1 p.Arg79Cys Uncertain significance Single submitter
- PSKH1 p.Arg79His Uncertain significance Single submitter
- PSKH1 p.Asn276Ser Uncertain significance Single submitter
- PSKH1 p.Asn423Ser Uncertain significance Single submitter
- PSKH1 p.Glu192Lys Uncertain significance Single submitter
- PSKH1 p.Ile156Val Uncertain significance Single submitter
- PSKH1 p.Leu310Ile Uncertain significance Single submitter
- PSKH1 p.Lys14Arg Uncertain significance Single submitter
- PSKH1 p.Lys247Glu Uncertain significance Single submitter
- PSKH1 p.Met358Leu Uncertain significance Single submitter
- PSKH1 p.Pro65Leu Uncertain significance Single submitter
- PSKH1 p.Pro77Ser Uncertain significance Single submitter
- PSKH1 p.Ser315Gly Uncertain significance Single submitter
- PSKH1 p.Ser381Leu Uncertain significance Single submitter
- PSKH1 p.Ser395Ile Uncertain significance Single submitter
- PSKH1 p.Tyr58Cys Uncertain significance Single submitter
- PSKH1 p.Val16Ile Uncertain significance Single submitter
- PSKH1 p.Val268Ile Uncertain significance Single submitter
- PSKH1 p.Val34Met Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
-
PSKH1 p.Ala195Thr
Likely pathogenic
Single submitter
cholestasis, progressive familial intrahepatic, 13
-
PSKH1 p.Arg121Trp
Pathogenic
Single submitter
cholestasis, progressive familial intrahepatic, 13
- PSKH1 p.Arg137Trp Uncertain significance Single submitter
-
PSKH1 p.Arg167Trp
Uncertain significance
Single submitter
cholestasis, progressive familial intrahepatic, 13
- PSKH1 p.Arg246Gly Uncertain significance Single submitter
- PSKH1 p.Arg271Cys Uncertain significance Single submitter
- PSKH1 p.Arg311Gly Uncertain significance Single submitter
- PSKH1 p.Arg405Cys Uncertain significance Single submitter
- PSKH1 p.Arg409Trp Uncertain significance Single submitter
- PSKH1 p.Glu166Lys Uncertain significance Single submitter
- PSKH1 p.Leu144Met Uncertain significance Single submitter
- PSKH1 p.Leu375Phe Uncertain significance Single submitter
- PSKH1 p.Lys7Asn Uncertain significance Single submitter
- PSKH1 p.Lys89Glu Uncertain significance Single submitter
- PSKH1 p.Met170Val Uncertain significance Single submitter
- PSKH1 p.Met201Leu Uncertain significance Single submitter
- PSKH1 p.Thr303Ile Uncertain significance Single submitter
- PSKH1 p.Tyr86Cys Uncertain significance Single submitter
-
PSKH1 p.Arg183Cys
Pathogenic
No assertion criteria
cholestasis, progressive familial intrahepatic, 13
All PSKH1 variants
Pathogenic 3
- p.Arg121Trp Single submitter cholestasis, progressive familial intrahepatic, 13 ⚠
- p.Arg183Cys No assertion criteria cholestasis, progressive familial intrahepatic, 13 ⚠
- p.Ile126Val No assertion criteria cholestasis, progressive familial intrahepatic, 13
Likely pathogenic 1
- p.Ala195Thr Single submitter cholestasis, progressive familial intrahepatic, 13 ⚠
Likely benign 2
- p.Gly64Ser Single submitter
- p.Thr191= Single submitter
Uncertain significance 54
- p.Asn301Ser Multiple submitters ⚠
- p.Ala287Val Single submitter ⚠
- p.Ala342Gly Single submitter ⚠
- p.Arg121Gln Single submitter ⚠
- p.Arg134Pro Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg167Trp Single submitter cholestasis, progressive familial intrahepatic, 13 ⚠
- p.Arg197Trp Single submitter
- p.Arg207Gln Single submitter ⚠
- p.Arg246Gly Single submitter ⚠
- p.Arg246His Single submitter
- p.Arg271Cys Single submitter ⚠
- p.Arg304Gln Single submitter
- p.Arg307Gln Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Arg382Cys Single submitter
- p.Arg396His Single submitter ⚠
- p.Arg404His Single submitter ⚠
- p.Arg405Cys Single submitter ⚠
- p.Arg405His Single submitter ⚠
- p.Arg407Trp Single submitter
- p.Arg409Trp Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg412Trp Single submitter
- p.Arg79Cys Single submitter ⚠
- p.Arg79His Single submitter ⚠
- p.Asn276Ser Single submitter ⚠
- p.Asn423Ser Single submitter ⚠
- p.Cys383Tyr Single submitter
- p.Glu166Lys Single submitter ⚠
- p.Glu192Lys Single submitter ⚠
- p.Gly249Val Single submitter
- p.Ile156Val Single submitter ⚠
- p.Leu144Met Single submitter ⚠
- p.Leu310Ile Single submitter ⚠
- p.Leu375Phe Single submitter ⚠
- p.Lys14Arg Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Lys7Asn Single submitter ⚠
- p.Lys89Glu Single submitter ⚠
- p.Met170Val Single submitter ⚠
- p.Met201Leu Single submitter ⚠
- p.Met358Leu Single submitter ⚠
- p.Pro65Leu Single submitter ⚠
- p.Pro77Ser Single submitter ⚠
- p.Ser315Gly Single submitter ⚠
- p.Ser381Leu Single submitter ⚠
- p.Ser395Ile Single submitter ⚠
- p.Thr303Ile Single submitter ⚠
- p.Tyr58Cys Single submitter ⚠
- p.Tyr86Cys Single submitter ⚠
- p.Val16Ile Single submitter ⚠
- p.Val268Ile Single submitter ⚠
- p.Val34Met Single submitter ⚠