CTBP2 — 59 ClinVar variants
All ClinVar germline CTBP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
3 Pathogenic · 23 Benign · 31 Likely benign · 2 Uncertain significance
Full CTBP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CTBP2 p.Thr182Met
Pathogenic
No assertion criteria
Pulmonary artery atresia
Predictors split 2
The independent predictors disagree with each other — read with care.
-
CTBP2 p.Gly117Ser
Pathogenic
No assertion criteria
Pulmonary artery atresia
-
CTBP2 p.Val223Met
Pathogenic
No assertion criteria
Pulmonary artery atresia
All CTBP2 variants
Pathogenic 3
- p.Gly117Ser No assertion criteria Pulmonary artery atresia ⚠
- p.Thr182Met No assertion criteria Pulmonary artery atresia ⚠
- p.Val223Met No assertion criteria Pulmonary artery atresia ⚠
Benign 23
- c.58+11873C>T Multiple submitters
- c.58+11963C>T Multiple submitters
- c.58+12441C>T Multiple submitters
- c.58+12475A>C Multiple submitters
- p.Pro309= Multiple submitters
- c.58+11621G>A Single submitter
- c.58+12268G>A Single submitter
- p.Lys8Ter Single submitter
- c.58+11426C>T No assertion criteria CTBP2-related disorder
- c.58+11874G>A No assertion criteria CTBP2-related disorder
- c.58+11883G>A No assertion criteria CTBP2-related disorder
- c.58+11937G>A No assertion criteria CTBP2-related disorder
- c.58+12047C>T No assertion criteria CTBP2-related disorder
- c.58+12130G>A No assertion criteria CTBP2-related disorder
- c.58+12191G>A No assertion criteria CTBP2-related disorder
- c.58+12412T>C No assertion criteria CTBP2-related disorder
- c.58+12430G>T No assertion criteria CTBP2-related disorder
- c.58+12491A>G No assertion criteria CTBP2-related disorder
- c.58+12515G>A No assertion criteria CTBP2-related disorder
- c.58+12600T>C No assertion criteria CTBP2-related disorder
- c.58+12852C>G No assertion criteria CTBP2-related disorder
- c.58+12925C>G No assertion criteria CTBP2-related disorder
- c.59-2109G>A No assertion criteria CTBP2-related disorder
Likely benign 31
- c.58+11596T>A Single submitter
- c.58+11688A>G Single submitter
- c.58+11697C>T Single submitter
- c.58+11761_58+11762del Single submitter
- c.58+12100C>T Single submitter
- c.58+12230T>G Single submitter
- c.58+12365C>T Single submitter
- c.58+12548C>T Single submitter
- c.58+12848G>A Single submitter
- p.Ala426= Single submitter
- p.Asn269= Single submitter
- p.Gln283= Single submitter
- p.Gly273= Single submitter
- p.Ile406= Single submitter
- p.Ser164= Single submitter
- p.Ser300= Single submitter
- p.Ser326= Single submitter
- p.Thr339= Single submitter
- c.58+11243A>G No assertion criteria CTBP2-related disorder
- c.58+11362C>T No assertion criteria CTBP2-related disorder
- c.58+11458C>G No assertion criteria CTBP2-related disorder
- c.58+11546C>T No assertion criteria CTBP2-related disorder
- c.58+11702A>C No assertion criteria CTBP2-related disorder
- c.58+12231G>A No assertion criteria CTBP2-related disorder
- c.58+12321G>C No assertion criteria CTBP2-related disorder
- c.58+12448G>A No assertion criteria CTBP2-related disorder
- c.58+12618G>A No assertion criteria CTBP2-related disorder
- c.59-2045C>T No assertion criteria CTBP2-related disorder
- c.59-2326C>T No assertion criteria CTBP2-related disorder
- p.Arg13Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro314= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 2
- p.Gly409fs No assertion criteria
- p.Ile406fs No assertion criteria