HVCN1 — 21 ClinVar variants
All ClinVar germline HVCN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
2 Likely benign · 19 Uncertain significance
Full HVCN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HVCN1 p.Arg162His Uncertain significance Single submitter
- HVCN1 p.Arg223His Uncertain significance Single submitter
- HVCN1 p.Arg83Met Uncertain significance Single submitter
- HVCN1 p.Glu271Lys Uncertain significance Single submitter
- HVCN1 p.Glu65Gly Uncertain significance Single submitter
- HVCN1 p.His266Arg Uncertain significance Single submitter
- HVCN1 p.Ile105Thr Uncertain significance Single submitter
- HVCN1 p.Leu269Pro Uncertain significance Single submitter
- HVCN1 p.Lys14Asn Uncertain significance Single submitter
- HVCN1 p.Lys23Glu Uncertain significance Single submitter
- HVCN1 p.Lys261Gln Uncertain significance Single submitter
- HVCN1 p.Met234Thr Uncertain significance Single submitter
- HVCN1 p.Thr10Asn Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All HVCN1 variants
Likely benign 2
- c.757-14del Single submitter
- p.Val74Ala Single submitter
Uncertain significance 19
- p.Arg162His Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg223Ser Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg83Met Single submitter ⚠
- p.Asn235Ser Single submitter ⚠
- p.Glu271Lys Single submitter ⚠
- p.Glu65Gly Single submitter ⚠
- p.His266Arg Single submitter ⚠
- p.Ile105Thr Single submitter ⚠
- p.Leu238Ser Single submitter ⚠
- p.Leu269Pro Single submitter ⚠
- p.Lys14Asn Single submitter ⚠
- p.Lys23Glu Single submitter ⚠
- p.Lys261Gln Single submitter ⚠
- p.Met142Ile Single submitter
- p.Met234Thr Single submitter ⚠
- p.Thr10Asn Single submitter ⚠
- p.Val179Met Single submitter ⚠