CTDSP1 — 38 ClinVar variants
All ClinVar germline CTDSP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Benign · 36 Uncertain significance
Full CTDSP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTDSP1 p.Ala15Thr Uncertain significance Single submitter
- CTDSP1 p.Ala15Val Uncertain significance Single submitter
- CTDSP1 p.Ala171Val Uncertain significance Single submitter
- CTDSP1 p.Ala56Val Uncertain significance Single submitter
- CTDSP1 p.Arg258Gln Uncertain significance Single submitter
- CTDSP1 p.Arg48Gly Uncertain significance Single submitter
- CTDSP1 p.Glu14Ala Uncertain significance Single submitter
- CTDSP1 p.Gly17Asp Uncertain significance Single submitter
- CTDSP1 p.Gly51Glu Uncertain significance Single submitter
- CTDSP1 p.Ile120Thr Uncertain significance Single submitter
- CTDSP1 p.Leu237Phe Uncertain significance Single submitter
- CTDSP1 p.Leu54Val Uncertain significance Single submitter
- CTDSP1 p.Met142Val Uncertain significance Single submitter
- CTDSP1 p.Pro18Ser Uncertain significance Single submitter
- CTDSP1 p.Ser11Arg Uncertain significance Single submitter
- CTDSP1 p.Ser58Asn Uncertain significance Single submitter
- CTDSP1 p.Ser88Leu Uncertain significance Single submitter
- CTDSP1 p.Val124Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CTDSP1 p.Ala56Thr Benign Multiple submitters
- CTDSP1 p.Ala163Val Uncertain significance Single submitter
- CTDSP1 p.Ala174Ser Uncertain significance Single submitter
- CTDSP1 p.Ala5Val Uncertain significance Single submitter
- CTDSP1 p.Arg185Trp Uncertain significance Single submitter
- CTDSP1 p.Arg194Trp Uncertain significance Single submitter
- CTDSP1 p.Arg200Gln Uncertain significance Single submitter
- CTDSP1 p.Arg246His Uncertain significance Single submitter
- CTDSP1 p.Arg258Trp Uncertain significance Single submitter
- CTDSP1 p.Arg36Trp Uncertain significance Single submitter
- CTDSP1 p.Arg48Trp Uncertain significance Single submitter
- CTDSP1 p.Gln86Pro Uncertain significance Single submitter
- CTDSP1 p.Gly260Glu Uncertain significance Single submitter
- CTDSP1 p.Lys168Glu Uncertain significance Single submitter
- CTDSP1 p.Pro61Ala Uncertain significance Single submitter
- CTDSP1 p.Ser245Cys Uncertain significance Single submitter
- CTDSP1 p.Ser4Leu Uncertain significance Single submitter
- CTDSP1 p.Val182Ile Uncertain significance Single submitter
- CTDSP1 p.Val93Leu Uncertain significance Single submitter
All CTDSP1 variants
Benign 2
- p.Ala56Thr Multiple submitters ⚠
- p.Ser58= Single submitter
Uncertain significance 36
- p.Ala15Thr Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Ala163Val Single submitter ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala174Ser Single submitter ⚠
- p.Ala56Val Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Arg185Trp Single submitter ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg246His Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg36Trp Single submitter ⚠
- p.Arg48Gly Single submitter ⚠
- p.Arg48Trp Single submitter ⚠
- p.Gln86Pro Single submitter ⚠
- p.Glu14Ala Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Gly260Glu Single submitter ⚠
- p.Gly51Glu Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Leu237Phe Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Lys168Glu Single submitter ⚠
- p.Met142Val Single submitter ⚠
- p.Pro18Ser Single submitter ⚠
- p.Pro61Ala Single submitter ⚠
- p.Ser11Arg Single submitter ⚠
- p.Ser245Cys Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser58Asn Single submitter ⚠
- p.Ser88Leu Single submitter ⚠
- p.Val124Ile Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val93Leu Single submitter ⚠