CADPS — 176 ClinVar variants

All ClinVar germline CADPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

5 Benign · 29 Likely benign · 142 Uncertain significance

Full CADPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 77

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 63

The independent predictors disagree with each other — read with care.

All CADPS variants

Benign 5

Likely benign 29

  • p.Ala69= Single submitter
  • p.Asn178= Single submitter
  • p.Gly20= Single submitter
  • p.Leu572= Single submitter
  • p.Phe286= Single submitter
  • p.Pro1048= Single submitter
  • c.1438-10T>C No assertion criteria CADPS-related disorder
  • c.1754-6T>C No assertion criteria CADPS-related disorder
  • c.3477+7A>G No assertion criteria CADPS-related disorder
  • c.3883-9C>T No assertion criteria CADPS-related disorder
  • p.Ala262= No assertion criteria CADPS-related disorder
  • p.Ala912= No assertion criteria CADPS-related disorder
  • p.Asn1017Ile No assertion criteria CADPS-related disorder ⚠
  • p.Asn205= No assertion criteria CADPS-related disorder
  • p.Asn740= No assertion criteria CADPS-related disorder
  • p.Gly1339= No assertion criteria CADPS-related disorder
  • p.Gly25= No assertion criteria CADPS-related disorder
  • p.Gly47Ala No assertion criteria CADPS-related disorder
  • p.Gly86= No assertion criteria CADPS-related disorder
  • p.Ile129= No assertion criteria CADPS-related disorder
  • p.Leu228= No assertion criteria CADPS-related disorder
  • p.Lys117= No assertion criteria CADPS-related disorder
  • p.Ser1264Gly No assertion criteria CADPS-related disorder ⚠
  • p.Ser190= No assertion criteria CADPS-related disorder
  • p.Thr1274= No assertion criteria CADPS-related disorder
  • p.Thr445= No assertion criteria CADPS-related disorder
  • p.Tyr656= No assertion criteria CADPS-related disorder
  • p.Val394= No assertion criteria CADPS-related disorder
  • p.Val685= No assertion criteria CADPS-related disorder

Uncertain significance 142