PHKG1 — 98 ClinVar variants
All ClinVar germline PHKG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
2 Likely benign · 96 Uncertain significance
Full PHKG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHKG1 p.Arg132Gln Uncertain significance Single submitter
- PHKG1 p.Arg182Gln Uncertain significance Single submitter
- PHKG1 p.Arg233Trp Uncertain significance Single submitter
- PHKG1 p.Arg297Gln Uncertain significance Single submitter
- PHKG1 p.Arg302Gln Uncertain significance Single submitter
- PHKG1 p.Arg302Trp Uncertain significance Single submitter
- PHKG1 p.Arg323Cys Uncertain significance Single submitter
- PHKG1 p.Arg323His Uncertain significance Single submitter
- PHKG1 p.Arg324Gln Uncertain significance Single submitter
- PHKG1 p.Arg330Gln Uncertain significance Single submitter
- PHKG1 p.Arg335Gln Uncertain significance Single submitter
- PHKG1 p.Arg341Gln Uncertain significance Single submitter
- PHKG1 p.Arg341Trp Uncertain significance Single submitter
- PHKG1 p.Arg344Cys Uncertain significance Single submitter
- PHKG1 p.Arg344His Uncertain significance Single submitter
- PHKG1 p.Arg353Gln Uncertain significance Single submitter
- PHKG1 p.Arg3Gln Uncertain significance Single submitter
- PHKG1 p.Arg3Trp Uncertain significance Single submitter
- PHKG1 p.Asp203Asn Uncertain significance Single submitter
- PHKG1 p.Gln248His Uncertain significance Single submitter
- PHKG1 p.Gln89Glu Uncertain significance Single submitter
- PHKG1 p.Glu154Lys Uncertain significance Single submitter
- PHKG1 p.Glu183Asp Uncertain significance Single submitter
- PHKG1 p.Glu18Asp Uncertain significance Single submitter
- PHKG1 p.Glu24Asp Uncertain significance Single submitter
- PHKG1 p.Glu295Ala Uncertain significance Single submitter
- PHKG1 p.Glu384Lys Uncertain significance Single submitter
- PHKG1 p.Glu69Lys Uncertain significance Single submitter
- PHKG1 p.Gly245Ser Uncertain significance Single submitter
- PHKG1 p.Gly245Val Uncertain significance Single submitter
- PHKG1 p.Gly55Ser Uncertain significance Single submitter
- PHKG1 p.His285Tyr Uncertain significance Single submitter
- PHKG1 p.Ile219Thr Uncertain significance Single submitter
- PHKG1 p.Ile332Met Uncertain significance Single submitter
- PHKG1 p.Ile332Thr Uncertain significance Single submitter
- PHKG1 p.Leu102Phe Uncertain significance Single submitter
- PHKG1 p.Leu144Phe Uncertain significance Single submitter
- PHKG1 p.Leu269Pro Uncertain significance Single submitter
- PHKG1 p.Lys119Gln Uncertain significance Single submitter
- PHKG1 p.Lys152Met Uncertain significance Single submitter
- PHKG1 p.Lys80Arg Uncertain significance Single submitter
- PHKG1 p.Lys91Arg Uncertain significance Single submitter
- PHKG1 p.Met200Val Uncertain significance Single submitter
- PHKG1 p.Met213Val Uncertain significance Single submitter
- PHKG1 p.Phe104Ser Uncertain significance Single submitter
- PHKG1 p.Phe113Ser Uncertain significance Single submitter
- PHKG1 p.Pro153Ser Uncertain significance Single submitter
- PHKG1 p.Pro177Arg Uncertain significance Single submitter
- PHKG1 p.Pro229Ser Uncertain significance Single submitter
- PHKG1 p.Pro8Leu Uncertain significance Single submitter
- PHKG1 p.Ser123Ile Uncertain significance Single submitter
- PHKG1 p.Ser123Thr Uncertain significance Single submitter
- PHKG1 p.Ser244Arg Uncertain significance Single submitter
- PHKG1 p.Ser31Thr Uncertain significance Single submitter
- PHKG1 p.Ser32Arg Uncertain significance Single submitter
- PHKG1 p.Thr71Pro Uncertain significance Single submitter
- PHKG1 p.Thr93Ala Uncertain significance Single submitter
- PHKG1 p.Thr93Ser Uncertain significance Single submitter
- PHKG1 p.Thr98Ser Uncertain significance Single submitter
- PHKG1 p.Tyr20Asp Uncertain significance Single submitter
- PHKG1 p.Tyr320Cys Uncertain significance Single submitter
- PHKG1 p.Val184Phe Uncertain significance Single submitter
- PHKG1 p.Val265Ile Uncertain significance Single submitter
- PHKG1 p.Val271Met Uncertain significance Single submitter
- PHKG1 p.Val333Ile Uncertain significance Single submitter
- PHKG1 p.Val48Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- PHKG1 p.Ala279Val Uncertain significance Single submitter
- PHKG1 p.Ala282Gly Uncertain significance Single submitter
- PHKG1 p.Arg297Trp Uncertain significance Single submitter
- PHKG1 p.Arg324Trp Uncertain significance Single submitter
- PHKG1 p.Arg345Trp Uncertain significance Single submitter
- PHKG1 p.Arg367Trp Uncertain significance Single submitter
- PHKG1 p.Arg68Gln Uncertain significance Single submitter
- PHKG1 p.Arg79Cys Uncertain significance Single submitter
- PHKG1 p.Asp263Glu Uncertain significance Single submitter
- PHKG1 p.Asp348Asn Uncertain significance Single submitter
- PHKG1 p.Glu194Lys Uncertain significance Single submitter
- PHKG1 p.Glu210Lys Uncertain significance Single submitter
- PHKG1 p.Glu253Val Uncertain significance Single submitter
- PHKG1 p.Glu372Lys Uncertain significance Single submitter
- PHKG1 p.Gly83Glu Uncertain significance Single submitter
- PHKG1 p.Ile38Thr Uncertain significance Single submitter
- PHKG1 p.Met243Arg Uncertain significance Single submitter
- PHKG1 p.Ser266Phe Uncertain significance Single submitter
- PHKG1 p.Thr42Met Uncertain significance Single submitter
- PHKG1 p.Tyr17Ser Uncertain significance Single submitter
- PHKG1 p.Tyr355His Uncertain significance Single submitter
All PHKG1 variants
Likely benign 2
- p.Arg65Gln Single submitter
- p.Asn161Asp Single submitter
Uncertain significance 96
- p.Ala279Val Single submitter ⚠
- p.Ala282Gly Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg297Gln Single submitter ⚠
- p.Arg297Trp Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg302Trp Single submitter ⚠
- p.Arg317Trp Single submitter
- p.Arg323Cys Single submitter ⚠
- p.Arg323His Single submitter ⚠
- p.Arg324Gln Single submitter ⚠
- p.Arg324Trp Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg341Trp Single submitter ⚠
- p.Arg344Cys Single submitter ⚠
- p.Arg344His Single submitter ⚠
- p.Arg345Trp Single submitter ⚠
- p.Arg353Gln Single submitter ⚠
- p.Arg367Trp Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg3Trp Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Asp114Ter Single submitter
- p.Asp203Asn Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp348Asn Single submitter ⚠
- p.Asp52Asn Single submitter
- p.Gln248His Single submitter ⚠
- p.Gln89Glu Single submitter ⚠
- p.Glu126Asp Single submitter
- p.Glu154Lys Single submitter ⚠
- p.Glu183Asp Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu24Asp Single submitter ⚠
- p.Glu253Val Single submitter ⚠
- p.Glu295Ala Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu384Lys Single submitter ⚠
- p.Glu69Lys Single submitter ⚠
- p.Gly208Arg Single submitter
- p.Gly245Ser Single submitter ⚠
- p.Gly245Val Single submitter ⚠
- p.Gly55Ser Single submitter ⚠
- p.Gly83Glu Single submitter ⚠
- p.His285Tyr Single submitter ⚠
- p.Ile219Thr Single submitter ⚠
- p.Ile332Met Single submitter ⚠
- p.Ile332Thr Single submitter ⚠
- p.Ile38Thr Single submitter ⚠
- p.Leu102Phe Single submitter ⚠
- p.Leu144Phe Single submitter ⚠
- p.Leu269Pro Single submitter ⚠
- p.Lys119Gln Single submitter ⚠
- p.Lys152Met Single submitter ⚠
- p.Lys80Arg Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met200Val Single submitter ⚠
- p.Met213Val Single submitter ⚠
- p.Met243Arg Single submitter ⚠
- p.Met243Thr Single submitter
- p.Phe104Ser Single submitter ⚠
- p.Phe113Ser Single submitter ⚠
- p.Pro153Ser Single submitter ⚠
- p.Pro177Arg Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro8Leu Single submitter ⚠
- p.Ser123Ile Single submitter ⚠
- p.Ser123Thr Single submitter ⚠
- p.Ser244Arg Single submitter ⚠
- p.Ser266Phe Single submitter ⚠
- p.Ser31Thr Single submitter ⚠
- p.Ser32Arg Single submitter ⚠
- p.Thr42Met Single submitter ⚠
- p.Thr54Ile Single submitter
- p.Thr71Pro Single submitter ⚠
- p.Thr93Ala Single submitter ⚠
- p.Thr93Ser Single submitter ⚠
- p.Thr98Ser Single submitter ⚠
- p.Tyr17Ser Single submitter ⚠
- p.Tyr20Asp Single submitter ⚠
- p.Tyr320Cys Single submitter ⚠
- p.Tyr355His Single submitter ⚠
- p.Val184Phe Single submitter ⚠
- p.Val261Met Single submitter
- p.Val265Ile Single submitter ⚠
- p.Val271Met Single submitter ⚠
- p.Val312Met Single submitter
- p.Val333Ile Single submitter ⚠
- p.Val48Met Single submitter ⚠