CTDSPL — 28 ClinVar variants
All ClinVar germline CTDSPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
28 Uncertain significance
Full CTDSPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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.
- CTDSPL p.Ala92Thr Uncertain significance Single submitter
- CTDSPL p.Arg262Gln Uncertain significance Single submitter
- CTDSPL p.Asn12Ser Uncertain significance Single submitter
- CTDSPL p.Asn275Lys Uncertain significance Single submitter
- CTDSPL p.Asp265Asn Uncertain significance Single submitter
- CTDSPL p.Gln29His Uncertain significance Single submitter
- CTDSPL p.Glu195Gln Uncertain significance Single submitter
- CTDSPL p.Gly3Arg Uncertain significance Single submitter
- CTDSPL p.His141Tyr Uncertain significance Single submitter
- CTDSPL p.Ile111Thr Uncertain significance Single submitter
- CTDSPL p.Ile42Asn Uncertain significance Single submitter
- CTDSPL p.Ile6Val Uncertain significance Single submitter
- CTDSPL p.Pro4Arg Uncertain significance Single submitter
- CTDSPL p.Pro4Gln Uncertain significance Single submitter
- CTDSPL p.Pro97Ser Uncertain significance Single submitter
- CTDSPL p.Ser121Leu Uncertain significance Single submitter
- CTDSPL p.Val32Ile Uncertain significance Single submitter
- CTDSPL p.Val84Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CTDSPL p.Arg184His Uncertain significance Single submitter
- CTDSPL p.Arg210Cys Uncertain significance Single submitter
- CTDSPL p.Arg262Trp Uncertain significance Single submitter
- CTDSPL p.Glu153Lys Uncertain significance Single submitter
- CTDSPL p.Gly259Val Uncertain significance Single submitter
- CTDSPL p.Gly3Cys Uncertain significance Single submitter
- CTDSPL p.Phe46Ser Uncertain significance Single submitter
- CTDSPL p.Pro67Leu Uncertain significance Single submitter
- CTDSPL p.Ser126Cys Uncertain significance Single submitter
- CTDSPL p.Ser89Asn Uncertain significance Single submitter
All CTDSPL variants
Uncertain significance 28
- p.Ala92Thr Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg262Gln Single submitter ⚠
- p.Arg262Trp Single submitter ⚠
- p.Asn12Ser Single submitter ⚠
- p.Asn275Lys Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Gln29His Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Glu195Gln Single submitter ⚠
- p.Gly259Val Single submitter ⚠
- p.Gly3Arg Single submitter ⚠
- p.Gly3Cys Single submitter ⚠
- p.His141Tyr Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Ile42Asn Single submitter ⚠
- p.Ile6Val Single submitter ⚠
- p.Phe46Ser Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro4Gln Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser121Leu Single submitter ⚠
- p.Ser126Cys Single submitter ⚠
- p.Ser89Asn Single submitter ⚠
- p.Val32Ile Single submitter ⚠
- p.Val84Ile Single submitter ⚠