CAVIN4 — 118 ClinVar variants
All ClinVar germline CAVIN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
2 Conflicting · 12 Benign · 1 Benign/Likely benign · 25 Likely benign · 78 Uncertain significance
Full CAVIN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CAVIN4 p.Arg17Cys Uncertain significance Multiple submitters
- CAVIN4 p.Pro142Leu Uncertain significance Multiple submitters
- CAVIN4 p.Ser20Thr Uncertain significance Multiple submitters
- CAVIN4 p.Ala105Thr Uncertain significance Single submitter
- CAVIN4 p.Ala10Thr Uncertain significance Single submitter
- CAVIN4 p.Ala29Thr Uncertain significance Single submitter
- CAVIN4 p.Arg106Gln Uncertain significance Single submitter
- CAVIN4 p.Arg140Trp Uncertain significance Single submitter
- CAVIN4 p.Arg272His Uncertain significance Single submitter
- CAVIN4 p.Arg299Gly Uncertain significance Single submitter
- CAVIN4 p.Arg332Ser Uncertain significance Single submitter
- CAVIN4 p.Arg94Gln Uncertain significance Single submitter
- CAVIN4 p.Asn4Ser Uncertain significance Single submitter
- CAVIN4 p.Asn81Asp Uncertain significance Single submitter
- CAVIN4 p.Asp150Gly Uncertain significance Single submitter
- CAVIN4 p.Asp170Gly Uncertain significance Single submitter
- CAVIN4 p.Asp170Val Uncertain significance Single submitter
- CAVIN4 p.Asp24Val Uncertain significance Single submitter
- CAVIN4 p.Gln208Arg Uncertain significance Single submitter
- CAVIN4 p.Glu155Gly Uncertain significance Single submitter
- CAVIN4 p.Glu286Lys Uncertain significance Single submitter
- CAVIN4 p.Glu287Ala Uncertain significance Single submitter
- CAVIN4 p.Glu301Gln Uncertain significance Single submitter
- CAVIN4 p.Glu333Ala Uncertain significance Single submitter
- CAVIN4 p.Glu56Asp Uncertain significance Single submitter
- CAVIN4 p.His329Asn Uncertain significance Single submitter
- CAVIN4 p.His329Tyr Uncertain significance Single submitter
- CAVIN4 p.His99Arg Uncertain significance Single submitter
- CAVIN4 p.Ile134Val Uncertain significance Single submitter
- CAVIN4 p.Ile259Leu Uncertain significance Single submitter
- CAVIN4 p.Ile259Val Uncertain significance Single submitter
- CAVIN4 p.Ile43Thr Uncertain significance Single submitter
- CAVIN4 p.Ile54Arg Uncertain significance Single submitter
- CAVIN4 p.Ile54Thr Uncertain significance Single submitter
- CAVIN4 p.Leu31Val Uncertain significance Single submitter
- CAVIN4 p.Leu360Val Uncertain significance Single submitter
- CAVIN4 p.Leu73Ser Uncertain significance Single submitter
- CAVIN4 p.Lys115Arg Uncertain significance Single submitter
- CAVIN4 p.Lys199Glu Uncertain significance Single submitter
- CAVIN4 p.Lys200Arg Uncertain significance Single submitter
- CAVIN4 p.Met61Val Uncertain significance Single submitter
- CAVIN4 p.Pro142Ala Uncertain significance Single submitter
- CAVIN4 p.Pro228Ala Uncertain significance Single submitter
- CAVIN4 p.Pro305Ser Uncertain significance Single submitter
- CAVIN4 p.Pro324Arg Uncertain significance Single submitter
- CAVIN4 p.Pro327His Uncertain significance Single submitter
- CAVIN4 p.Ser19Leu Uncertain significance Single submitter
- CAVIN4 p.Ser260Cys Uncertain significance Single submitter
- CAVIN4 p.Ser46Arg Uncertain significance Single submitter
- CAVIN4 p.Ser50Asn Uncertain significance Single submitter
- CAVIN4 p.Ser97Asn Uncertain significance Single submitter
- CAVIN4 p.Val179Ile Uncertain significance Single submitter
- CAVIN4 p.Val218Leu Uncertain significance Single submitter
- CAVIN4 p.Val218Met Uncertain significance Single submitter
- CAVIN4 p.Val68Ile Uncertain significance Single submitter
-
CAVIN4 p.Pro337Ala
Uncertain significance
No assertion criteria
CAVIN4-related disorder
Predictors split 12
The independent predictors disagree with each other — read with care.
- CAVIN4 p.Arg272Cys Uncertain significance Multiple submitters
- CAVIN4 p.Asn128Lys Uncertain significance Multiple submitters
- CAVIN4 p.Arg211Gln Uncertain significance Single submitter
- CAVIN4 p.Arg230Thr Uncertain significance Single submitter
- CAVIN4 p.Glu229Gly Uncertain significance Single submitter
- CAVIN4 p.Gly252Ala Uncertain significance Single submitter
- CAVIN4 p.Ile225Lys Uncertain significance Single submitter
- CAVIN4 p.Lys200Glu Uncertain significance Single submitter
- CAVIN4 p.Pro228Leu Uncertain significance Single submitter
- CAVIN4 p.Thr35Ile Uncertain significance Single submitter
- CAVIN4 p.Val132Leu Uncertain significance Single submitter
-
CAVIN4 p.Val132Met
Uncertain significance
No assertion criteria
CAVIN4-related disorder
All CAVIN4 variants
Conflicting classifications of pathogenicity 2
- p.Asn81Lys Single submitter ⚠
- p.Ser307Thr Single submitter ⚠
Benign 12
- c.408+42T>C Multiple submitters
- c.408+6C>A Multiple submitters
- c.-117T>C Multiple submitters
- c.-57G>A Multiple submitters
- p.Arg131His Multiple submitters
- p.Arg332= Multiple submitters
- p.Asp163Gly Multiple submitters
- p.Ser190= Multiple submitters
- p.Ser78Leu Multiple submitters
- c.408+181G>A Single submitter
- c.408+245G>A Single submitter
- c.408+248A>G Single submitter
Benign/Likely benign 1
- p.Ser19= Multiple submitters
Likely benign 25
- c.408+28T>C Multiple submitters
- c.409-26T>A Multiple submitters
- c.*46T>C Multiple submitters
- p.Arg231Lys Multiple submitters
- p.Asp28= Multiple submitters
- p.Glu313= Multiple submitters
- p.Pro335= Multiple submitters
- p.Ser173= Multiple submitters
- c.408+9G>A Single submitter
- c.409-202G>A Single submitter
- c.*17T>A Single submitter
- p.234LRQSGER[2] Single submitter
- p.Arg242= Single submitter
- p.Arg249Lys Single submitter
- p.Arg290= Single submitter
- p.Arg59= Single submitter
- p.Glu205= Single submitter
- p.Glu286= Single submitter
- p.Gly238= Single submitter
- p.His329Gln Single submitter
- p.His84Tyr Single submitter
- p.Phe130= Single submitter
- p.Pro228= Single submitter
- p.Pro324Leu Single submitter
- p.Asp160= No assertion criteria CAVIN4-related disorder
Uncertain significance 78
- p.Arg17Cys Multiple submitters ⚠
- p.Arg272Cys Multiple submitters ⚠
- p.Asn128Lys Multiple submitters ⚠
- p.Pro142Leu Multiple submitters ⚠
- p.Ser20Thr Multiple submitters ⚠
- c.409-1delinsCCGAAA Single submitter
- c.-10A>T Single submitter
- p.Ala105Thr Single submitter ⚠
- p.Ala10Thr Single submitter ⚠
- p.Ala29Thr Single submitter ⚠
- p.Ala30Thr Single submitter
- p.Arg106Gln Single submitter ⚠
- p.Arg140Trp Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg230Thr Single submitter ⚠
- p.Arg254_Phe255insLeuArgGlnSerGlyGluArg Single submitter
- p.Arg272His Single submitter ⚠
- p.Arg299Gly Single submitter ⚠
- p.Arg332Ser Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asn4Ser Single submitter ⚠
- p.Asn81Asp Single submitter ⚠
- p.Asp150Gly Single submitter ⚠
- p.Asp170Gly Single submitter ⚠
- p.Asp170Val Single submitter ⚠
- p.Asp174Asn Single submitter
- p.Asp24Val Single submitter ⚠
- p.Gln157Ter Single submitter
- p.Gln208Arg Single submitter ⚠
- p.Glu123Gly Single submitter
- p.Glu155Gly Single submitter ⚠
- p.Glu229Gly Single submitter ⚠
- p.Glu286Lys Single submitter ⚠
- p.Glu287Ala Single submitter ⚠
- p.Glu301Gln Single submitter ⚠
- p.Glu333Ala Single submitter ⚠
- p.Glu56Asp Single submitter ⚠
- p.Gly252Ala Single submitter ⚠
- p.His329Asn Single submitter ⚠
- p.His329Tyr Single submitter ⚠
- p.His99Arg Single submitter ⚠
- p.Ile134Val Single submitter ⚠
- p.Ile225Lys Single submitter ⚠
- p.Ile259Leu Single submitter ⚠
- p.Ile259Val Single submitter ⚠
- p.Ile43Thr Single submitter ⚠
- p.Ile54Arg Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Leu31Val Single submitter ⚠
- p.Leu360Val Single submitter ⚠
- p.Leu73Ser Single submitter ⚠
- p.Lys115Arg Single submitter ⚠
- p.Lys199Glu Single submitter ⚠
- p.Lys200Arg Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Met61Val Single submitter ⚠
- p.Pro142Ala Single submitter ⚠
- p.Pro228Ala Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro324Arg Single submitter ⚠
- p.Pro327His Single submitter ⚠
- p.Ser173Leu Single submitter
- p.Ser19Leu Single submitter ⚠
- p.Ser251fs Single submitter
- p.Ser260Cys Single submitter ⚠
- p.Ser46Arg Single submitter ⚠
- p.Ser50Asn Single submitter ⚠
- p.Ser97Asn Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Val132Leu Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val218Leu Single submitter ⚠
- p.Val218Met Single submitter ⚠
- p.Val68Ile Single submitter ⚠
- p.Ala322fs No assertion criteria CAVIN4-related disorder
- p.Pro337Ala No assertion criteria CAVIN4-related disorder ⚠
- p.Val132Met No assertion criteria CAVIN4-related disorder ⚠