PRKCH — 76 ClinVar variants
All ClinVar germline PRKCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Benign · 2 Likely benign · 73 Uncertain significance
Full PRKCH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PRKCH p.Ala114Val Uncertain significance Single submitter
- PRKCH p.Ala539Thr Uncertain significance Single submitter
- PRKCH p.Ala620Val Uncertain significance Single submitter
- PRKCH p.Arg110Cys Uncertain significance Single submitter
- PRKCH p.Arg149Trp Uncertain significance Single submitter
- PRKCH p.Arg26His Uncertain significance Single submitter
- PRKCH p.Arg329Lys Uncertain significance Single submitter
- PRKCH p.Arg349Gln Uncertain significance Single submitter
- PRKCH p.Arg405Lys Uncertain significance Single submitter
- PRKCH p.Arg411His Uncertain significance Single submitter
- PRKCH p.Arg428Cys Uncertain significance Single submitter
- PRKCH p.Arg457Cys Uncertain significance Single submitter
- PRKCH p.Arg596Leu Uncertain significance Single submitter
- PRKCH p.Arg638Gln Uncertain significance Single submitter
- PRKCH p.Asn568Ser Uncertain significance Single submitter
- PRKCH p.Asp116Gly Uncertain significance Single submitter
- PRKCH p.Asp353Asn Uncertain significance Single submitter
- PRKCH p.Asp353Glu Uncertain significance Single submitter
- PRKCH p.Asp452Asn Uncertain significance Single submitter
- PRKCH p.Cys208Tyr Uncertain significance Single submitter
- PRKCH p.Gln312Arg Uncertain significance Single submitter
- PRKCH p.Gln51His Uncertain significance Single submitter
- PRKCH p.Glu338Lys Uncertain significance Single submitter
- PRKCH p.Glu453Lys Uncertain significance Single submitter
- PRKCH p.Glu670Asp Uncertain significance Single submitter
- PRKCH p.Gly113Arg Uncertain significance Single submitter
- PRKCH p.Gly296Trp Uncertain significance Single submitter
- PRKCH p.Gly351Ser Uncertain significance Single submitter
- PRKCH p.Gly550Val Uncertain significance Single submitter
-
PRKCH p.Gly55Ala
Uncertain significance
Single submitter
ischemic stroke
- PRKCH p.Gly583Arg Uncertain significance Single submitter
- PRKCH p.His578Leu Uncertain significance Single submitter
- PRKCH p.His606Gln Uncertain significance Single submitter
- PRKCH p.Leu322Phe Uncertain significance Single submitter
- PRKCH p.Leu40Val Uncertain significance Single submitter
- PRKCH p.Lys36Arg Uncertain significance Single submitter
- PRKCH p.Lys65Arg Uncertain significance Single submitter
- PRKCH p.Met468Val Uncertain significance Single submitter
- PRKCH p.Met595Ile Uncertain significance Single submitter
- PRKCH p.Met665Val Uncertain significance Single submitter
- PRKCH p.Pro313Ala Uncertain significance Single submitter
- PRKCH p.Pro653Thr Uncertain significance Single submitter
- PRKCH p.Pro664Leu Uncertain significance Single submitter
- PRKCH p.Ser139Asn Uncertain significance Single submitter
- PRKCH p.Ser320Leu Uncertain significance Single submitter
- PRKCH p.Ser335Gly Uncertain significance Single submitter
- PRKCH p.Ser336Gly Uncertain significance Single submitter
- PRKCH p.Ser465Leu Uncertain significance Single submitter
- PRKCH p.Thr117Ser Uncertain significance Single submitter
- PRKCH p.Thr67Ala Uncertain significance Single submitter
- PRKCH p.Thr77Ile Uncertain significance Single submitter
- PRKCH p.Val20Ala Uncertain significance Single submitter
- PRKCH p.Val344Gly Uncertain significance Single submitter
- PRKCH p.Val344Ile Uncertain significance Single submitter
- PRKCH p.Val344Leu Uncertain significance Single submitter
- PRKCH p.Val86Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PRKCH p.Arg449Cys Uncertain significance Single submitter
- PRKCH p.Arg450His Uncertain significance Single submitter
- PRKCH p.Asn170Lys Uncertain significance Single submitter
- PRKCH p.Asn170Ser Uncertain significance Single submitter
- PRKCH p.Cys101Ser Uncertain significance Single submitter
- PRKCH p.Glu651Gln Uncertain significance Single submitter
- PRKCH p.His551Gln Uncertain significance Single submitter
- PRKCH p.Ile445Val Uncertain significance Single submitter
- PRKCH p.Met540Thr Uncertain significance Single submitter
- PRKCH p.Phe588Leu Uncertain significance Single submitter
- PRKCH p.Pro313Ser Uncertain significance Single submitter
- PRKCH p.Val210Ile Uncertain significance Single submitter
- PRKCH p.Val641Phe Uncertain significance Single submitter
All PRKCH variants
Benign 1
- p.Ile445= Multiple submitters
Likely benign 2
- p.Leu585= Single submitter
- p.Pro612Ser No assertion criteria PRKCH-related disorder
Uncertain significance 73
- c.578+3A>G Single submitter
- p.Ala114Val Single submitter ⚠
- p.Ala539Thr Single submitter ⚠
- p.Ala620Val Single submitter ⚠
- p.Arg110Cys Single submitter ⚠
- p.Arg149Trp Single submitter ⚠
- p.Arg26His Single submitter ⚠
- p.Arg329Lys Single submitter ⚠
- p.Arg349Gln Single submitter ⚠
- p.Arg405Lys Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Arg428Cys Single submitter ⚠
- p.Arg449Cys Single submitter ⚠
- p.Arg450His Single submitter ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg596Leu Single submitter ⚠
- p.Arg638Gln Single submitter ⚠
- p.Asn170Lys Single submitter ⚠
- p.Asn170Ser Single submitter ⚠
- p.Asn568Ser Single submitter ⚠
- p.Asp116Gly Single submitter ⚠
- p.Asp353Asn Single submitter ⚠
- p.Asp353Glu Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Cys101Ser Single submitter ⚠
- p.Cys208Tyr Single submitter ⚠
- p.Gln312Arg Single submitter ⚠
- p.Gln51His Single submitter ⚠
- p.Glu338Lys Single submitter ⚠
- p.Glu453Lys Single submitter ⚠
- p.Glu490Lys Single submitter
- p.Glu570Gly Single submitter
- p.Glu651Gln Single submitter ⚠
- p.Glu670Asp Single submitter ⚠
- p.Gly113Arg Single submitter ⚠
- p.Gly296Trp Single submitter ⚠
- p.Gly351Ser Single submitter ⚠
- p.Gly550Val Single submitter ⚠
- p.Gly55Ala Single submitter ischemic stroke ⚠
- p.Gly583Arg Single submitter ⚠
- p.His551Gln Single submitter ⚠
- p.His578Leu Single submitter ⚠
- p.His606Gln Single submitter ⚠
- p.Ile445Val Single submitter ⚠
- p.Leu322Phe Single submitter ⚠
- p.Leu40Val Single submitter ⚠
- p.Lys36Arg Single submitter ⚠
- p.Lys65Arg Single submitter ⚠
- p.Met468Thr Single submitter
- p.Met468Val Single submitter ⚠
- p.Met540Thr Single submitter ⚠
- p.Met595Ile Single submitter ⚠
- p.Met665Val Single submitter ⚠
- p.Phe588Leu Single submitter ⚠
- p.Pro313Ala Single submitter ⚠
- p.Pro313Ser Single submitter ⚠
- p.Pro653Thr Single submitter ⚠
- p.Pro664Leu Single submitter ⚠
- p.Ser139Asn Single submitter ⚠
- p.Ser320Leu Single submitter ⚠
- p.Ser335Gly Single submitter ⚠
- p.Ser336Gly Single submitter ⚠
- p.Ser465Leu Single submitter ⚠
- p.Thr117Ser Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Thr77Ile Single submitter ⚠
- p.Val20Ala Single submitter ⚠
- p.Val210Ile Single submitter ⚠
- p.Val344Gly Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val641Phe Single submitter ⚠
- p.Val86Ile Single submitter ⚠