CAV2 — 30 ClinVar variants
All ClinVar germline CAV2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Benign · 3 Likely benign · 26 Uncertain significance
Full CAV2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAV2 p.Ala8Val Uncertain significance Single submitter
- CAV2 p.Arg40Gln Uncertain significance Single submitter
- CAV2 p.Gln158Lys Uncertain significance Single submitter
- CAV2 p.Glu26Ala Uncertain significance Single submitter
- CAV2 p.Glu78Val Uncertain significance Single submitter
- CAV2 p.His22Tyr Uncertain significance Single submitter
- CAV2 p.His43Gln Uncertain significance Single submitter
- CAV2 p.Leu25Phe Uncertain significance Single submitter
- CAV2 p.Thr121Ala Uncertain significance Single submitter
- CAV2 p.Thr5Lys Uncertain significance Single submitter
- CAV2 p.Thr63Lys Uncertain significance Single submitter
- CAV2 p.Val119Ile Uncertain significance Single submitter
- CAV2 p.Val148Ile Uncertain significance Single submitter
- CAV2 p.Val155Leu Uncertain significance Single submitter
- CAV2 p.Val56Glu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CAV2 p.Asp17Ala Uncertain significance Single submitter
- CAV2 p.Asp17Tyr Uncertain significance Single submitter
- CAV2 p.Asp55Asn Uncertain significance Single submitter
- CAV2 p.Cys151Tyr Uncertain significance Single submitter
- CAV2 p.Glu4Gln Uncertain significance Single submitter
- CAV2 p.Leu157Pro Uncertain significance Single submitter
- CAV2 p.Phe118Ser Uncertain significance Single submitter
- CAV2 p.Phe91Ser Uncertain significance Single submitter
- CAV2 p.Pro42Ser Uncertain significance Single submitter
- CAV2 p.Ser18Phe Uncertain significance Single submitter
- CAV2 p.Thr146Met Uncertain significance Single submitter
All CAV2 variants
Benign 1
- p.Ser147= Multiple submitters
Uncertain significance 26
- p.Ala8Val Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Asp17Ala Single submitter ⚠
- p.Asp17Tyr Single submitter ⚠
- p.Asp55Asn Single submitter ⚠
- p.Cys151Tyr Single submitter ⚠
- p.Gln158Lys Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Glu78Val Single submitter ⚠
- p.His22Tyr Single submitter ⚠
- p.His43Gln Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Phe118Ser Single submitter ⚠
- p.Phe91Ser Single submitter ⚠
- p.Pro42Ser Single submitter ⚠
- p.Ser18Phe Single submitter ⚠
- p.Thr121Ala Single submitter ⚠
- p.Thr146Met Single submitter ⚠
- p.Thr5Lys Single submitter ⚠
- p.Thr63Lys Single submitter ⚠
- p.Val119Ile Single submitter ⚠
- p.Val148Ile Single submitter ⚠
- p.Val155Leu Single submitter ⚠
- p.Val56Glu Single submitter ⚠