CNIH4 — 16 ClinVar variants
All ClinVar germline CNIH4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
16 Uncertain significance
Full CNIH4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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.
- CNIH4 p.Ala3Gly Uncertain significance Single submitter
- CNIH4 p.Ala3Ser Uncertain significance Single submitter
- CNIH4 p.Ile116Met Uncertain significance Single submitter
- CNIH4 p.Ile24Val Uncertain significance Single submitter
- CNIH4 p.Ile70Val Uncertain significance Single submitter
- CNIH4 p.Leu123Phe Uncertain significance Single submitter
- CNIH4 p.Leu134Val Uncertain significance Single submitter
- CNIH4 p.Met127Ile Uncertain significance Single submitter
- CNIH4 p.Thr79Ala Uncertain significance Single submitter
- CNIH4 p.Val7Leu Uncertain significance Single submitter
- CNIH4 p.Val95Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CNIH4 variants
Uncertain significance 16
- p.Ala3Gly Single submitter ⚠
- p.Ala3Ser Single submitter ⚠
- p.Asp12Gly Single submitter
- p.Asp139Tyr Single submitter ⚠
- p.Ile116Met Single submitter ⚠
- p.Ile24Val Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu10Phe Single submitter ⚠
- p.Leu123Phe Single submitter ⚠
- p.Leu134Val Single submitter ⚠
- p.Met127Ile Single submitter ⚠
- p.Ser20Leu Single submitter ⚠
- p.Thr79Ala Single submitter ⚠
- p.Val5Glu Single submitter ⚠
- p.Val7Leu Single submitter ⚠
- p.Val95Met Single submitter ⚠