CNIH3 — 19 ClinVar variants
All ClinVar germline CNIH3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
19 Uncertain significance
Full CNIH3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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.
- CNIH3 p.Arg35Thr Uncertain significance Single submitter
- CNIH3 p.Arg53Trp Uncertain significance Single submitter
- CNIH3 p.Asp126Asn Uncertain significance Single submitter
- CNIH3 p.Leu54Phe Uncertain significance Single submitter
- CNIH3 p.Leu63Val Uncertain significance Single submitter
- CNIH3 p.Lys39Arg Uncertain significance Single submitter
- CNIH3 p.Met153Ile Uncertain significance Single submitter
- CNIH3 p.Phe23Cys Uncertain significance Single submitter
- CNIH3 p.Ser73Cys Uncertain significance Single submitter
- CNIH3 p.Thr90Met Uncertain significance Single submitter
- CNIH3 p.Val48Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CNIH3 p.Ala135Thr Uncertain significance Single submitter
- CNIH3 p.Ala50Glu Uncertain significance Single submitter
- CNIH3 p.Ala6Thr Uncertain significance Single submitter
- CNIH3 p.Arg55Ser Uncertain significance Single submitter
- CNIH3 p.Arg59His Uncertain significance Single submitter
- CNIH3 p.Leu63Phe Uncertain significance Single submitter
- CNIH3 p.Lys66Glu Uncertain significance Single submitter
- CNIH3 p.Phe5Leu Uncertain significance Single submitter
All CNIH3 variants
Uncertain significance 19
- p.Ala135Thr Single submitter ⚠
- p.Ala50Glu Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Arg35Thr Single submitter ⚠
- p.Arg53Trp Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Asp126Asn Single submitter ⚠
- p.Leu54Phe Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys39Arg Single submitter ⚠
- p.Lys66Glu Single submitter ⚠
- p.Met153Ile Single submitter ⚠
- p.Phe23Cys Single submitter ⚠
- p.Phe5Leu Single submitter ⚠
- p.Ser73Cys Single submitter ⚠
- p.Thr90Met Single submitter ⚠
- p.Val48Ile Single submitter ⚠