CNIH2 — 10 ClinVar variants
All ClinVar germline CNIH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
1 Benign · 9 Uncertain significance
Full CNIH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNIH2 p.Asn40Thr Uncertain significance Single submitter
- CNIH2 p.Cys9Arg Uncertain significance Single submitter
- CNIH2 p.Gly45Arg Uncertain significance Single submitter
- CNIH2 p.His75Tyr Uncertain significance Single submitter
- CNIH2 p.Ile42Leu Uncertain significance Single submitter
- CNIH2 p.Ser73Cys Uncertain significance Single submitter
- CNIH2 p.Val115Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CNIH2 variants
Benign 1
- p.Ala7= Multiple submitters
Uncertain significance 9
- p.Arg59Gly Single submitter ⚠
- p.Asn40Thr Single submitter ⚠
- p.Cys9Arg Single submitter ⚠
- p.Gln132His Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.His75Tyr Single submitter ⚠
- p.Ile42Leu Single submitter ⚠
- p.Ser73Cys Single submitter ⚠
- p.Val115Ile Single submitter ⚠