ACVR2A — 32 ClinVar variants
All ClinVar germline ACVR2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
32 Uncertain significance
Full ACVR2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACVR2A p.Ala157Val Uncertain significance Single submitter
- ACVR2A p.Arg162Gly Uncertain significance Single submitter
- ACVR2A p.Arg24Gly Uncertain significance Single submitter
- ACVR2A p.Arg363Gln Uncertain significance Single submitter
- ACVR2A p.Gly299Arg Uncertain significance Single submitter
- ACVR2A p.His291Arg Uncertain significance Single submitter
- ACVR2A p.Ile223Val Uncertain significance Single submitter
- ACVR2A p.Ile494Thr Uncertain significance Single submitter
- ACVR2A p.Lys165Arg Uncertain significance Single submitter
- ACVR2A p.Lys435Gln Uncertain significance Single submitter
- ACVR2A p.Lys56Glu Uncertain significance Single submitter
- ACVR2A p.Lys94Arg Uncertain significance Single submitter
- ACVR2A p.Met148Ile Uncertain significance Single submitter
- ACVR2A p.Met390Val Uncertain significance Single submitter
- ACVR2A p.Pro49Leu Uncertain significance Single submitter
- ACVR2A p.Ser17Phe Uncertain significance Single submitter
- ACVR2A p.Val154Ile Uncertain significance Single submitter
- ACVR2A p.Val261Met Uncertain significance Single submitter
- ACVR2A p.Val370Leu Uncertain significance Single submitter
- ACVR2A p.Val497Ala Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ACVR2A p.Ala4Val Uncertain significance Single submitter
- ACVR2A p.Asn108Ser Uncertain significance Single submitter
- ACVR2A p.Asn332Thr Uncertain significance Single submitter
- ACVR2A p.Asp355Asn Uncertain significance Single submitter
- ACVR2A p.Glu234Lys Uncertain significance Single submitter
- ACVR2A p.Glu460Asp Uncertain significance Single submitter
- ACVR2A p.Ile338Val Uncertain significance Single submitter
- ACVR2A p.Ile419Thr Uncertain significance Single submitter
- ACVR2A p.Pro170Leu Uncertain significance Single submitter
- ACVR2A p.Thr131Arg Uncertain significance Single submitter
- ACVR2A p.Val145Gly Uncertain significance Single submitter
- ACVR2A p.Val495Leu Uncertain significance Single submitter
All ACVR2A variants
Uncertain significance 32
- p.Ala157Val Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Arg162Gly Single submitter ⚠
- p.Arg24Gly Single submitter ⚠
- p.Arg363Gln Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn332Thr Single submitter ⚠
- p.Asp355Asn Single submitter ⚠
- p.Glu234Lys Single submitter ⚠
- p.Glu460Asp Single submitter ⚠
- p.Gly299Arg Single submitter ⚠
- p.His291Arg Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile338Val Single submitter ⚠
- p.Ile419Thr Single submitter ⚠
- p.Ile494Thr Single submitter ⚠
- p.Lys165Arg Single submitter ⚠
- p.Lys435Gln Single submitter ⚠
- p.Lys56Glu Single submitter ⚠
- p.Lys94Arg Single submitter ⚠
- p.Met148Ile Single submitter ⚠
- p.Met390Val Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro49Leu Single submitter ⚠
- p.Ser17Phe Single submitter ⚠
- p.Thr131Arg Single submitter ⚠
- p.Val145Gly Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val261Met Single submitter ⚠
- p.Val370Leu Single submitter ⚠
- p.Val495Leu Single submitter ⚠
- p.Val497Ala Single submitter ⚠