CNBP — 18 ClinVar variants
All ClinVar germline CNBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
1 Pathogenic · 1 Benign · 6 Likely benign · 10 Uncertain significance
Full CNBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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.
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CNBP p.Asp52Glu
Uncertain significance
Single submitter
myotonic dystrophy type 2
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CNBP p.Cys122Ser
Uncertain significance
Single submitter
Inborn genetic diseases
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CNBP p.Glu5Asp
Uncertain significance
Single submitter
Inborn genetic diseases
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CNBP p.His113Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNBP p.Ser154Thr
Uncertain significance
Single submitter
Inborn genetic diseases
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CNBP p.Thr153Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNBP p.Thr21Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
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CNBP p.Asn100Ser
Uncertain significance
Single submitter
Inborn genetic diseases
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CNBP p.Gly36Cys
Uncertain significance
Single submitter
Inborn genetic diseases
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CNBP p.Pro104Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All CNBP variants
Pathogenic 1
- c.-14-833_-14-806CCTG[(75_11000 No assertion criteria myotonic dystrophy type 2
Benign 1
- p.Asp52= Multiple submitters myotonic dystrophy type 2
Likely benign 6
- c.-14-837_-14-830del No assertion criteria CNBP-related disorder
- c.-14-853_-14-838del No assertion criteria CNBP-related disorder
- c.-14-857_-14-838del No assertion criteria CNBP-related disorder
- c.-14-962GT[18] No assertion criteria CNBP-related disorder
- c.-14-963A>T No assertion criteria CNBP-related disorder
- p.Cys77= No assertion criteria CNBP-related disorder
Uncertain significance 10
- p.Asn100Ser Single submitter Inborn genetic diseases ⚠
- p.Asp52Glu Single submitter myotonic dystrophy type 2 ⚠
- p.Cys122Ser Single submitter Inborn genetic diseases ⚠
- p.Glu5Asp Single submitter Inborn genetic diseases ⚠
- p.Gly36Cys Single submitter Inborn genetic diseases ⚠
- p.His113Arg Single submitter Inborn genetic diseases ⚠
- p.Pro104Ala Single submitter Inborn genetic diseases ⚠
- p.Ser154Thr Single submitter Inborn genetic diseases ⚠
- p.Thr153Ala Single submitter Inborn genetic diseases ⚠
- p.Thr21Ala Single submitter ⚠