CNIH1 — 11 ClinVar variants
All ClinVar germline CNIH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
11 Uncertain significance
Full CNIH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 6
The independent predictors disagree with each other — read with care.
- CNIH1 p.Ile21Val Uncertain significance Single submitter
- CNIH1 p.Leu75Met Uncertain significance Single submitter
- CNIH1 p.Leu75Val Uncertain significance Single submitter
- CNIH1 p.Met137Leu Uncertain significance Single submitter
- CNIH1 p.Tyr139His Uncertain significance Single submitter
- CNIH1 p.Val94Ala Uncertain significance Single submitter
All CNIH1 variants
Uncertain significance 11
- p.Ile21Val Single submitter ⚠
- p.Ile58Val Single submitter ⚠
- p.Leu75Met Single submitter ⚠
- p.Leu75Val Single submitter ⚠
- p.Leu82Val Single submitter ⚠
- p.Met137Leu Single submitter ⚠
- p.Met137Val Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Tyr101Cys Single submitter ⚠
- p.Tyr139His Single submitter ⚠
- p.Val94Ala Single submitter ⚠