CAVIN2 — 79 ClinVar variants
All ClinVar germline CAVIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
2 Benign · 4 Likely benign · 73 Uncertain significance
Full CAVIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAVIN2 p.Ala105Asp Uncertain significance Single submitter
- CAVIN2 p.Ala137Val Uncertain significance Single submitter
- CAVIN2 p.Ala309Thr Uncertain significance Single submitter
- CAVIN2 p.Ala400Thr Uncertain significance Single submitter
- CAVIN2 p.Arg131His Uncertain significance Single submitter
- CAVIN2 p.Arg141Pro Uncertain significance Single submitter
- CAVIN2 p.Arg151Gln Uncertain significance Single submitter
- CAVIN2 p.Arg19Gln Uncertain significance Single submitter
- CAVIN2 p.Arg19Trp Uncertain significance Single submitter
- CAVIN2 p.Arg299Gln Uncertain significance Single submitter
- CAVIN2 p.Arg362Ser Uncertain significance Single submitter
- CAVIN2 p.Arg394Pro Uncertain significance Single submitter
- CAVIN2 p.Arg82Pro Uncertain significance Single submitter
- CAVIN2 p.Asn190Ser Uncertain significance Single submitter
- CAVIN2 p.Asn278His Uncertain significance Single submitter
- CAVIN2 p.Asp205Asn Uncertain significance Single submitter
- CAVIN2 p.Asp410Asn Uncertain significance Single submitter
- CAVIN2 p.Gln148His Uncertain significance Single submitter
- CAVIN2 p.Gln420His Uncertain significance Single submitter
- CAVIN2 p.Gln52Arg Uncertain significance Single submitter
- CAVIN2 p.Gln94Arg Uncertain significance Single submitter
- CAVIN2 p.Glu143Lys Uncertain significance Single submitter
- CAVIN2 p.Glu163Ala Uncertain significance Single submitter
- CAVIN2 p.Glu181Gly Uncertain significance Single submitter
- CAVIN2 p.Glu184Lys Uncertain significance Single submitter
- CAVIN2 p.Glu213Ala Uncertain significance Single submitter
- CAVIN2 p.Glu220Lys Uncertain significance Single submitter
- CAVIN2 p.Glu330Lys Uncertain significance Single submitter
- CAVIN2 p.Glu331Lys Uncertain significance Single submitter
- CAVIN2 p.Gly15Arg Uncertain significance Single submitter
- CAVIN2 p.Gly411Ala Uncertain significance Single submitter
- CAVIN2 p.His154Tyr Uncertain significance Single submitter
- CAVIN2 p.His337Asp Uncertain significance Single submitter
- CAVIN2 p.His337Tyr Uncertain significance Single submitter
- CAVIN2 p.Ile282Val Uncertain significance Single submitter
- CAVIN2 p.Ile376Asn Uncertain significance Single submitter
- CAVIN2 p.Leu100Phe Uncertain significance Single submitter
- CAVIN2 p.Leu186Pro Uncertain significance Single submitter
- CAVIN2 p.Leu215Gln Uncertain significance Single submitter
- CAVIN2 p.Lys156Thr Uncertain significance Single submitter
- CAVIN2 p.Lys173Glu Uncertain significance Single submitter
- CAVIN2 p.Lys222Asn Uncertain significance Single submitter
- CAVIN2 p.Lys301Glu Uncertain significance Single submitter
- CAVIN2 p.Pro175Leu Uncertain significance Single submitter
- CAVIN2 p.Pro23Ser Uncertain significance Single submitter
- CAVIN2 p.Pro413Leu Uncertain significance Single submitter
- CAVIN2 p.Pro416Leu Uncertain significance Single submitter
- CAVIN2 p.Ser192Phe Uncertain significance Single submitter
- CAVIN2 p.Ser247Ala Uncertain significance Single submitter
- CAVIN2 p.Ser283Phe Uncertain significance Single submitter
- CAVIN2 p.Ser37Gly Uncertain significance Single submitter
- CAVIN2 p.Thr196Ala Uncertain significance Single submitter
- CAVIN2 p.Thr276Met Uncertain significance Single submitter
- CAVIN2 p.Tyr399Cys Uncertain significance Single submitter
- CAVIN2 p.Val170Met Uncertain significance Single submitter
- CAVIN2 p.Val200Met Uncertain significance Single submitter
- CAVIN2 p.Val292Leu Uncertain significance Single submitter
- CAVIN2 p.Val418Met Uncertain significance Single submitter
- CAVIN2 p.Val58Gly Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CAVIN2 p.Arg152His Uncertain significance Single submitter
- CAVIN2 p.Asn256Lys Uncertain significance Single submitter
- CAVIN2 p.Gln83His Uncertain significance Single submitter
- CAVIN2 p.Glu162Lys Uncertain significance Single submitter
- CAVIN2 p.Glu162Val Uncertain significance Single submitter
- CAVIN2 p.Glu269Lys Uncertain significance Single submitter
- CAVIN2 p.Ile166Asn Uncertain significance Single submitter
- CAVIN2 p.Leu59Arg Uncertain significance Single submitter
- CAVIN2 p.Lys102Asn Uncertain significance Single submitter
- CAVIN2 p.Pro167Leu Uncertain significance Single submitter
- CAVIN2 p.Ser226Arg Uncertain significance Single submitter
- CAVIN2 p.Ser35Arg Uncertain significance Single submitter
All CAVIN2 variants
Likely benign 4
- p.Gln323Arg Single submitter
- p.Glu331Gly Single submitter
- p.Gly397= Single submitter
- p.Thr57= Single submitter
Uncertain significance 73
- p.Ala105Asp Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala400Thr Single submitter ⚠
- p.Arg131His Single submitter ⚠
- p.Arg141Pro Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg152His Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg248His Single submitter
- p.Arg299Gln Single submitter ⚠
- p.Arg362Ser Single submitter ⚠
- p.Arg394Pro Single submitter ⚠
- p.Arg82Pro Single submitter ⚠
- p.Asn190Ser Single submitter ⚠
- p.Asn256Lys Single submitter ⚠
- p.Asn278His Single submitter ⚠
- p.Asp205Asn Single submitter ⚠
- p.Asp410Asn Single submitter ⚠
- p.Gln148His Single submitter ⚠
- p.Gln420His Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Gln83His Single submitter ⚠
- p.Gln94Arg Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu162Val Single submitter ⚠
- p.Glu163Ala Single submitter ⚠
- p.Glu181Gly Single submitter ⚠
- p.Glu184Lys Single submitter ⚠
- p.Glu213Ala Single submitter ⚠
- p.Glu220Lys Single submitter ⚠
- p.Glu269Lys Single submitter ⚠
- p.Glu330Lys Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly411Ala Single submitter ⚠
- p.His154Tyr Single submitter ⚠
- p.His337Asp Single submitter ⚠
- p.His337Tyr Single submitter ⚠
- p.Ile166Asn Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile376Asn Single submitter ⚠
- p.Leu100Phe Single submitter ⚠
- p.Leu186Pro Single submitter ⚠
- p.Leu215Gln Single submitter ⚠
- p.Leu59Arg Single submitter ⚠
- p.Lys102Asn Single submitter ⚠
- p.Lys156Thr Single submitter ⚠
- p.Lys173Glu Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys301Glu Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro175Leu Single submitter ⚠
- p.Pro23Ser Single submitter ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro416Leu Single submitter ⚠
- p.Ser192Phe Single submitter ⚠
- p.Ser226Arg Single submitter ⚠
- p.Ser247Ala Single submitter ⚠
- p.Ser283Phe Single submitter ⚠
- p.Ser35Arg Single submitter ⚠
- p.Ser37Gly Single submitter ⚠
- p.Thr196Ala Single submitter ⚠
- p.Thr276Met Single submitter ⚠
- p.Tyr399Cys Single submitter ⚠
- p.Val170Met Single submitter ⚠
- p.Val200Met Single submitter ⚠
- p.Val292Leu Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val58Gly Single submitter ⚠
- p.Val90Met Single submitter