CTDSP2 — 25 ClinVar variants
All ClinVar germline CTDSP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
5 Likely benign · 20 Uncertain significance
Full CTDSP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTDSP2 p.Ala66Glu Uncertain significance Single submitter
- CTDSP2 p.Arg46Cys Uncertain significance Single submitter
- CTDSP2 p.Arg46Gly Uncertain significance Single submitter
- CTDSP2 p.Gly34Val Uncertain significance Single submitter
- CTDSP2 p.Ile251Thr Uncertain significance Single submitter
- CTDSP2 p.Ile7Val Uncertain significance Single submitter
- CTDSP2 p.Lys26Arg Uncertain significance Single submitter
- CTDSP2 p.Met240Leu Uncertain significance Single submitter
- CTDSP2 p.Ser264Thr Uncertain significance Single submitter
- CTDSP2 p.Ser72Leu Uncertain significance Single submitter
- CTDSP2 p.Thr19Ser Uncertain significance Single submitter
- CTDSP2 p.Tyr83Cys Uncertain significance Single submitter
- CTDSP2 p.Tyr83His Uncertain significance Single submitter
- CTDSP2 p.Val17Leu Uncertain significance Single submitter
- CTDSP2 p.Val261Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All CTDSP2 variants
Likely benign 5
Uncertain significance 20
- p.Ala66Glu Single submitter ⚠
- p.Arg179Trp Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg46Cys Single submitter ⚠
- p.Arg46Gly Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Gly34Val Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile7Val Single submitter ⚠
- p.Lys26Arg Single submitter ⚠
- p.Met240Leu Single submitter ⚠
- p.Ser264Thr Single submitter ⚠
- p.Ser72Leu Single submitter ⚠
- p.Thr19Ser Single submitter ⚠
- p.Thr8Ile Single submitter ⚠
- p.Tyr83Cys Single submitter ⚠
- p.Tyr83His Single submitter ⚠
- p.Val17Leu Single submitter ⚠
- p.Val261Ile Single submitter ⚠