HYPK — 20 ClinVar variants
All ClinVar germline HYPK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
2 Benign · 2 Likely benign · 16 Uncertain significance
Full HYPK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HYPK c.-11G>A Uncertain significance Single submitter
- HYPK c.-17G>A Uncertain significance Single submitter
- HYPK c.-18C>T Uncertain significance Single submitter
- HYPK p.Ala118Thr Uncertain significance Single submitter
- HYPK p.Ala118Val Uncertain significance Single submitter
- HYPK p.Ala99Thr Uncertain significance Single submitter
- HYPK p.Glu4Asp Uncertain significance Single submitter
- HYPK p.Leu116Arg Uncertain significance Single submitter
- HYPK p.Met91Val Uncertain significance Single submitter
- HYPK p.Thr15Ile Uncertain significance Single submitter
- HYPK p.Val7Met Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All HYPK variants
Uncertain significance 16
- c.-11G>A Single submitter ⚠
- c.-17G>A Single submitter ⚠
- c.-18C>T Single submitter ⚠
- p.Ala115Val Single submitter
- p.Ala118Thr Single submitter ⚠
- p.Ala118Val Single submitter ⚠
- p.Ala99Thr Single submitter ⚠
- p.Arg103His Single submitter
- p.Glu4Asp Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.His28Arg Single submitter ⚠
- p.Leu116Arg Single submitter ⚠
- p.Leu87Met Single submitter
- p.Met91Val Single submitter ⚠
- p.Thr15Ile Single submitter ⚠
- p.Val7Met Single submitter ⚠