CTDSPL2 — 50 ClinVar variants
All ClinVar germline CTDSPL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Benign · 48 Uncertain significance
Full CTDSPL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTDSPL2 p.Ala199Pro Uncertain significance Single submitter
- CTDSPL2 p.Ala204Gly Uncertain significance Single submitter
- CTDSPL2 p.Ala231Thr Uncertain significance Single submitter
- CTDSPL2 p.Ala8Gly Uncertain significance Single submitter
- CTDSPL2 p.Ala8Thr Uncertain significance Single submitter
- CTDSPL2 p.Arg224Cys Uncertain significance Single submitter
- CTDSPL2 p.Arg76His Uncertain significance Single submitter
- CTDSPL2 p.Asn117Ser Uncertain significance Single submitter
- CTDSPL2 p.Asn81Ser Uncertain significance Single submitter
- CTDSPL2 p.Asp164Glu Uncertain significance Single submitter
- CTDSPL2 p.Asp32Gly Uncertain significance Single submitter
- CTDSPL2 p.Asp77Glu Uncertain significance Single submitter
- CTDSPL2 p.Gln168Arg Uncertain significance Single submitter
- CTDSPL2 p.Gln183Arg Uncertain significance Single submitter
- CTDSPL2 p.Gln18His Uncertain significance Single submitter
- CTDSPL2 p.Glu220Gly Uncertain significance Single submitter
- CTDSPL2 p.Glu45Ala Uncertain significance Single submitter
- CTDSPL2 p.Gly47Ser Uncertain significance Single submitter
- CTDSPL2 p.His119Leu Uncertain significance Single submitter
- CTDSPL2 p.Ile226Ser Uncertain significance Single submitter
- CTDSPL2 p.Ile321Val Uncertain significance Single submitter
- CTDSPL2 p.Ile78Val Uncertain significance Single submitter
- CTDSPL2 p.Leu397Ile Uncertain significance Single submitter
- CTDSPL2 p.Lys157Arg Uncertain significance Single submitter
- CTDSPL2 p.Lys54Thr Uncertain significance Single submitter
- CTDSPL2 p.Met181Thr Uncertain significance Single submitter
- CTDSPL2 p.Met425Val Uncertain significance Single submitter
- CTDSPL2 p.Pro130Ala Uncertain significance Single submitter
- CTDSPL2 p.Pro135Ser Uncertain significance Single submitter
- CTDSPL2 p.Pro227Arg Uncertain significance Single submitter
- CTDSPL2 p.Ser132Ala Uncertain significance Single submitter
- CTDSPL2 p.Ser85Thr Uncertain significance Single submitter
- CTDSPL2 p.Thr188Ala Uncertain significance Single submitter
- CTDSPL2 p.Thr195Ala Uncertain significance Single submitter
- CTDSPL2 p.Thr221Arg Uncertain significance Single submitter
- CTDSPL2 p.Tyr200Asn Uncertain significance Single submitter
- CTDSPL2 p.Val176Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CTDSPL2 p.Arg19Cys Uncertain significance Single submitter
- CTDSPL2 p.Asn13His Uncertain significance Single submitter
- CTDSPL2 p.Asp31Tyr Uncertain significance Single submitter
- CTDSPL2 p.Asp32Tyr Uncertain significance Single submitter
- CTDSPL2 p.Gly167Glu Uncertain significance Single submitter
- CTDSPL2 p.Lys427Glu Uncertain significance Single submitter
- CTDSPL2 p.Ser165Cys Uncertain significance Single submitter
- CTDSPL2 p.Ser50Pro Uncertain significance Single submitter
- CTDSPL2 p.Thr139Ala Uncertain significance Single submitter
- CTDSPL2 p.Val443Ile Uncertain significance Single submitter
All CTDSPL2 variants
Benign 2
- p.Ala244Val Multiple submitters
- p.Pro166= Multiple submitters
Uncertain significance 48
- p.Ala199Pro Single submitter ⚠
- p.Ala204Gly Single submitter ⚠
- p.Ala231Thr Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg19Cys Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn13fs Single submitter
- p.Asn13His Single submitter ⚠
- p.Asn81Ser Single submitter ⚠
- p.Asp164Glu Single submitter ⚠
- p.Asp31Tyr Single submitter ⚠
- p.Asp32Gly Single submitter ⚠
- p.Asp32Tyr Single submitter ⚠
- p.Asp77Glu Single submitter ⚠
- p.Gln168Arg Single submitter ⚠
- p.Gln183Arg Single submitter ⚠
- p.Gln18His Single submitter ⚠
- p.Glu220Gly Single submitter ⚠
- p.Glu45Ala Single submitter ⚠
- p.Gly167Glu Single submitter ⚠
- p.Gly47Ser Single submitter ⚠
- p.His119Leu Single submitter ⚠
- p.Ile226Ser Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile78Val Single submitter ⚠
- p.Leu397Ile Single submitter ⚠
- p.Lys157Arg Single submitter ⚠
- p.Lys427Glu Single submitter ⚠
- p.Lys54Thr Single submitter ⚠
- p.Met181Thr Single submitter ⚠
- p.Met425Val Single submitter ⚠
- p.Pro130Ala Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro227Arg Single submitter ⚠
- p.Ser132Ala Single submitter ⚠
- p.Ser165Cys Single submitter ⚠
- p.Ser50Pro Single submitter ⚠
- p.Ser85Thr Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr188Ala Single submitter ⚠
- p.Thr195Ala Single submitter ⚠
- p.Thr221Arg Single submitter ⚠
- p.Tyr200Asn Single submitter ⚠
- p.Val176Ile Single submitter ⚠
- p.Val443Ile Single submitter ⚠