ANXA5 — 48 ClinVar variants
All ClinVar germline ANXA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
2 Benign · 3 Likely benign · 43 Uncertain significance
Full ANXA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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.
- ANXA5 p.Ala103Pro Uncertain significance Single submitter
- ANXA5 p.Ala2Val Uncertain significance Single submitter
- ANXA5 p.Ala99Val Uncertain significance Single submitter
- ANXA5 p.Arg151Trp Uncertain significance Single submitter
- ANXA5 p.Arg18Gln Uncertain significance Single submitter
- ANXA5 p.Arg201Leu Uncertain significance Single submitter
- ANXA5 p.Arg227Cys Uncertain significance Single submitter
- ANXA5 p.Arg227His Uncertain significance Single submitter
- ANXA5 p.Arg45Gln Uncertain significance Single submitter
- ANXA5 p.Arg89Trp Uncertain significance Single submitter
- ANXA5 p.Asp144Gly Uncertain significance Single submitter
- ANXA5 p.Gln220Glu Uncertain significance Single submitter
- ANXA5 p.Glu192Gly Uncertain significance Single submitter
- ANXA5 p.Gly188Ala Uncertain significance Single submitter
-
ANXA5 p.Gly218Arg
Uncertain significance
Single submitter
pregnancy loss, recurrent, susceptibility to, 3
- ANXA5 p.Ile125Val Uncertain significance Single submitter
- ANXA5 p.Ile247Thr Uncertain significance Single submitter
- ANXA5 p.Leu237His Uncertain significance Single submitter
- ANXA5 p.Leu315Pro Uncertain significance Single submitter
- ANXA5 p.Leu31Phe Uncertain significance Single submitter
- ANXA5 p.Lys108Ile Uncertain significance Single submitter
- ANXA5 p.Lys26Asn Uncertain significance Single submitter
- ANXA5 p.Met259Val Uncertain significance Single submitter
- ANXA5 p.Met299Thr Uncertain significance Single submitter
- ANXA5 p.Ser54Thr Uncertain significance Single submitter
- ANXA5 p.Thr10Ala Uncertain significance Single submitter
- ANXA5 p.Thr10Ile Uncertain significance Single submitter
- ANXA5 p.Thr268Ser Uncertain significance Single submitter
- ANXA5 p.Thr40Ile Uncertain significance Single submitter
- ANXA5 p.Val128Leu Uncertain significance Single submitter
- ANXA5 p.Val272Gly Uncertain significance Single submitter
- ANXA5 p.Val272Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ANXA5 p.Ala93Thr Uncertain significance Single submitter
- ANXA5 p.Arg227Ser Uncertain significance Single submitter
- ANXA5 p.Asp168Gly Uncertain significance Single submitter
- ANXA5 p.Asp16His Uncertain significance Single submitter
- ANXA5 p.Glu121Val Uncertain significance Single submitter
- ANXA5 p.Ile114Ser Uncertain significance Single submitter
- ANXA5 p.Leu269Val Uncertain significance Single submitter
- ANXA5 p.Met28Leu Uncertain significance Single submitter
- ANXA5 p.Val141Met Uncertain significance Single submitter
All ANXA5 variants
Likely benign 3
- p.Ile81Thr Multiple submitters
- p.Tyr257= Multiple submitters
- p.Ile279Thr No assertion criteria ANXA5-related disorder
Uncertain significance 43
- p.Ala103Pro Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala93Thr Single submitter ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg151Trp Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg201Leu Single submitter ⚠
- p.Arg227Cys Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg227Ser Single submitter ⚠
- p.Arg45Gln Single submitter ⚠
- p.Arg89Trp Single submitter ⚠
- p.Asp144Gly Single submitter ⚠
- p.Asp168Gly Single submitter ⚠
- p.Asp16His Single submitter ⚠
- p.Gln220Glu Single submitter ⚠
- p.Glu121Val Single submitter ⚠
- p.Glu192Gly Single submitter ⚠
- p.Gly188Ala Single submitter ⚠
- p.Gly218Arg Single submitter pregnancy loss, recurrent, susceptibility to, 3 ⚠
- p.Ile114Ser Single submitter ⚠
- p.Ile114Thr Single submitter
- p.Ile125Val Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Leu237His Single submitter ⚠
- p.Leu269Val Single submitter ⚠
- p.Leu315Pro Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Lys108Ile Single submitter ⚠
- p.Lys26Asn Single submitter ⚠
- p.Met259Val Single submitter ⚠
- p.Met28Leu Single submitter ⚠
- p.Met299Thr Single submitter ⚠
- p.Pro87Arg Single submitter
- p.Ser54Thr Single submitter ⚠
- p.Thr10Ala Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr268Ser Single submitter ⚠
- p.Thr40Ile Single submitter ⚠
- p.Val128Leu Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val272Gly Single submitter ⚠
- p.Val272Ile Single submitter ⚠