CPPED1 — 69 ClinVar variants
All ClinVar germline CPPED1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Likely benign · 66 Uncertain significance
Full CPPED1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CPPED1 p.Ala118Ser Uncertain significance Single submitter
- CPPED1 p.Ala192Val Uncertain significance Single submitter
- CPPED1 p.Ala200Thr Uncertain significance Single submitter
- CPPED1 p.Arg117Gly Uncertain significance Single submitter
- CPPED1 p.Asn127Ile Uncertain significance Single submitter
- CPPED1 p.Asp149Asn Uncertain significance Single submitter
- CPPED1 p.Asp214Glu Uncertain significance Single submitter
- CPPED1 p.Asp260Asn Uncertain significance Single submitter
- CPPED1 p.Asp55Asn Uncertain significance Single submitter
- CPPED1 p.Glu286Lys Uncertain significance Single submitter
- CPPED1 p.Glu300Lys Uncertain significance Single submitter
- CPPED1 p.Glu60Lys Uncertain significance Single submitter
- CPPED1 p.Gly31Ser Uncertain significance Single submitter
- CPPED1 p.Gly44Glu Uncertain significance Single submitter
- CPPED1 p.Gly58Ser Uncertain significance Single submitter
- CPPED1 p.Gly89Ser Uncertain significance Single submitter
- CPPED1 p.Gly8Val Uncertain significance Single submitter
- CPPED1 p.His196Asp Uncertain significance Single submitter
- CPPED1 p.His205Gln Uncertain significance Single submitter
- CPPED1 p.His290Gln Uncertain significance Single submitter
- CPPED1 p.Ile213Val Uncertain significance Single submitter
- CPPED1 p.Ile65Leu Uncertain significance Single submitter
- CPPED1 p.Phe203Cys Uncertain significance Single submitter
- CPPED1 p.Phe244Val Uncertain significance Single submitter
- CPPED1 p.Pro171Ser Uncertain significance Single submitter
- CPPED1 p.Ser299Asn Uncertain significance Single submitter
- CPPED1 p.Thr133Asn Uncertain significance Single submitter
- CPPED1 p.Thr133Ser Uncertain significance Single submitter
- CPPED1 p.Trp29Arg Uncertain significance Single submitter
- CPPED1 p.Tyr293Cys Uncertain significance Single submitter
- CPPED1 p.Val281Met Uncertain significance Single submitter
- CPPED1 p.Val9Leu Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- CPPED1 p.Ala20Gly Uncertain significance Single submitter
- CPPED1 p.Ala20Pro Uncertain significance Single submitter
- CPPED1 p.Ala20Thr Uncertain significance Single submitter
- CPPED1 p.Ala238Thr Uncertain significance Single submitter
- CPPED1 p.Ala3Val Uncertain significance Single submitter
- CPPED1 p.Ala94Thr Uncertain significance Single submitter
- CPPED1 p.Arg110Gln Uncertain significance Single submitter
- CPPED1 p.Arg16Ser Uncertain significance Single submitter
- CPPED1 p.Arg195Trp Uncertain significance Single submitter
- CPPED1 p.Arg291Gln Uncertain significance Single submitter
- CPPED1 p.Asn132Lys Uncertain significance Single submitter
- CPPED1 p.Asn132Ser Uncertain significance Single submitter
- CPPED1 p.Asn76Ser Uncertain significance Single submitter
- CPPED1 p.Asp214Val Uncertain significance Single submitter
- CPPED1 p.Asp53His Uncertain significance Single submitter
- CPPED1 p.Cys174Tyr Uncertain significance Single submitter
- CPPED1 p.Cys269Trp Uncertain significance Single submitter
- CPPED1 p.Gln181Glu Uncertain significance Single submitter
- CPPED1 p.Glu137Val Uncertain significance Single submitter
- CPPED1 p.Glu24Gly Uncertain significance Single submitter
- CPPED1 p.Glu28Lys Uncertain significance Single submitter
- CPPED1 p.Gly253Arg Uncertain significance Single submitter
- CPPED1 p.Ile236Phe Uncertain significance Single submitter
- CPPED1 p.Ile65Met Uncertain significance Single submitter
- CPPED1 p.Leu18Pro Uncertain significance Single submitter
- CPPED1 p.Leu295Val Uncertain significance Single submitter
- CPPED1 p.Met95Thr Uncertain significance Single submitter
- CPPED1 p.Phe10Cys Uncertain significance Single submitter
- CPPED1 p.Phe153Leu Uncertain significance Single submitter
- CPPED1 p.Pro99Leu Uncertain significance Single submitter
- CPPED1 p.Thr255Ala Uncertain significance Single submitter
- CPPED1 p.Val111Ala Uncertain significance Single submitter
- CPPED1 p.Val139Ile Likely benign Single submitter
- CPPED1 p.Val262Leu Uncertain significance Single submitter
- CPPED1 p.Val72Ala Uncertain significance Single submitter
All CPPED1 variants
Likely benign 3
- p.Ala23Ser Single submitter
- p.Arg144Gln Single submitter
- p.Val139Ile Single submitter ⚠
Uncertain significance 66
- p.Ala118Ser Single submitter ⚠
- p.Ala192Val Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala20Gly Single submitter ⚠
- p.Ala20Pro Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg110Gln Single submitter ⚠
- p.Arg117Gly Single submitter ⚠
- p.Arg16Ser Single submitter ⚠
- p.Arg195Trp Single submitter ⚠
- p.Arg291Gln Single submitter ⚠
- p.Asn127Ile Single submitter ⚠
- p.Asn132Lys Single submitter ⚠
- p.Asn132Ser Single submitter ⚠
- p.Asn76Ser Single submitter ⚠
- p.Asp149Asn Single submitter ⚠
- p.Asp214Glu Single submitter ⚠
- p.Asp214Val Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Asp53His Single submitter ⚠
- p.Asp55Asn Single submitter ⚠
- p.Cys174Tyr Single submitter ⚠
- p.Cys269Trp Single submitter ⚠
- p.Gln181Glu Single submitter ⚠
- p.Glu137Val Single submitter ⚠
- p.Glu24Gly Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Glu300Lys Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly31Ser Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly58Ser Single submitter ⚠
- p.Gly89Ser Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.His196Asp Single submitter ⚠
- p.His205Gln Single submitter ⚠
- p.His290Gln Single submitter ⚠
- p.Ile213Val Single submitter ⚠
- p.Ile236Phe Single submitter ⚠
- p.Ile65Leu Single submitter ⚠
- p.Ile65Met Single submitter ⚠
- p.Leu18Pro Single submitter ⚠
- p.Leu295Val Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Phe10Cys Single submitter ⚠
- p.Phe153Leu Single submitter ⚠
- p.Phe203Cys Single submitter ⚠
- p.Phe244Val Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser299Asn Single submitter ⚠
- p.Thr133Asn Single submitter ⚠
- p.Thr133Ser Single submitter ⚠
- p.Thr255Ala Single submitter ⚠
- p.Trp29Arg Single submitter ⚠
- p.Tyr293Cys Single submitter ⚠
- p.Val111Ala Single submitter ⚠
- p.Val262Leu Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val72Ala Single submitter ⚠
- p.Val9Leu Single submitter ⚠