CNOT9 — 28 ClinVar variants
All ClinVar germline CNOT9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Likely benign · 23 Uncertain significance
Full CNOT9 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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CNOT9 p.Ala101Thr
Uncertain significance
Single submitter
CNOT9-associated neurodevelopmental disorder
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CNOT9 p.Arg169Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CNOT9 p.Arg227Pro Uncertain significance Single submitter
- CNOT9 p.Arg227Ser Uncertain significance Single submitter
- CNOT9 p.Arg46Gln Uncertain significance Single submitter
- CNOT9 p.Cys99Tyr Uncertain significance Single submitter
- CNOT9 p.Gly195Arg Uncertain significance Single submitter
- CNOT9 p.Gly293Ser Uncertain significance Single submitter
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CNOT9 p.Leu218Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CNOT9 p.Lys188Asn Uncertain significance Single submitter
- CNOT9 p.Met171Val Uncertain significance Single submitter
- CNOT9 p.Pro298Thr Uncertain significance Single submitter
- CNOT9 p.Thr202Pro Uncertain significance Single submitter
- CNOT9 p.Trp57Cys Uncertain significance Single submitter
- CNOT9 p.Tyr203Cys Uncertain significance Single submitter
- CNOT9 p.Val126Phe Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All CNOT9 variants
Pathogenic 1
- p.Arg292Trp Multiple submitters CNOT9-related disorder ⚠
Pathogenic/Likely pathogenic 1
- p.Arg227His Multiple submitters CNOT9-associated neurodevelopmental disorder
Likely pathogenic 2
- p.Arg46Gly Single submitter CNOT9-associated neurodevelopmental disorder
- p.Pro131Leu Single submitter CNOT9-associated neurodevelopmental disorder
Likely benign 1
- c.204+250C>G Single submitter
Uncertain significance 23
- c.541-1G>T Single submitter
- c.640-2_640-1del Single submitter
- p.Ala101Thr Single submitter CNOT9-associated neurodevelopmental disorder ⚠
- p.Arg169Gln Single submitter Inborn genetic diseases ⚠
- p.Arg227Pro Single submitter ⚠
- p.Arg227Ser Single submitter ⚠
- p.Arg238Ter Single submitter
- p.Arg46Gln Single submitter ⚠
- p.Asp241fs Single submitter
- p.Cys99Tyr Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly293Ser Single submitter ⚠
- p.Leu218Pro Single submitter Inborn genetic diseases ⚠
- p.Lys188Asn Single submitter ⚠
- p.Met171Val Single submitter ⚠
- p.Pro298Thr Single submitter ⚠
- p.Ser108Leu Single submitter ⚠
- p.Thr161del Single submitter
- p.Thr202Pro Single submitter ⚠
- p.Trp57Cys Single submitter ⚠
- p.Tyr203Cys Single submitter ⚠
- p.Tyr23fs Single submitter
- p.Val126Phe Single submitter ⚠