ANXA7 — 73 ClinVar variants
All ClinVar germline ANXA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Likely pathogenic · 3 Likely benign · 69 Uncertain significance
Full ANXA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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.
- ANXA7 c.435+444T>C Uncertain significance Single submitter
- ANXA7 c.435+450C>T Uncertain significance Single submitter
- ANXA7 c.435+452G>A Uncertain significance Single submitter
- ANXA7 c.435+459T>C Uncertain significance Single submitter
- ANXA7 p.Ala165Pro Uncertain significance Single submitter
- ANXA7 p.Ala20Ser Uncertain significance Single submitter
- ANXA7 p.Ala45Thr Uncertain significance Single submitter
- ANXA7 p.Arg198Gly Uncertain significance Single submitter
- ANXA7 p.Arg256Cys Uncertain significance Single submitter
- ANXA7 p.Arg256His Uncertain significance Single submitter
- ANXA7 p.Arg290Lys Uncertain significance Single submitter
- ANXA7 p.Arg299His Uncertain significance Single submitter
- ANXA7 p.Arg326Pro Uncertain significance Single submitter
- ANXA7 p.Arg419Trp Uncertain significance Single submitter
- ANXA7 p.Arg457Gln Uncertain significance Single submitter
- ANXA7 p.Asp338Gly Uncertain significance Single submitter
- ANXA7 p.Gln466Pro Uncertain significance Single submitter
- ANXA7 p.Ile166Val Uncertain significance Single submitter
- ANXA7 p.Ile186Val Uncertain significance Single submitter
- ANXA7 p.Leu244Ser Uncertain significance Single submitter
- ANXA7 p.Leu385Phe Uncertain significance Single submitter
- ANXA7 p.Met176Ile Uncertain significance Single submitter
- ANXA7 p.Met176Val Uncertain significance Single submitter
- ANXA7 p.Met304Thr Uncertain significance Single submitter
- ANXA7 p.Met435Leu Uncertain significance Single submitter
- ANXA7 p.Pro146Ser Uncertain significance Single submitter
- ANXA7 p.Pro352Ser Uncertain significance Single submitter
- ANXA7 p.Ser243Asn Uncertain significance Single submitter
- ANXA7 p.Ser243Gly Uncertain significance Single submitter
- ANXA7 p.Ser383Asn Uncertain significance Single submitter
- ANXA7 p.Thr141Ala Uncertain significance Single submitter
- ANXA7 p.Thr446Ser Uncertain significance Single submitter
Predictors split 37
The independent predictors disagree with each other — read with care.
- ANXA7 c.435+423C>G Uncertain significance Single submitter
- ANXA7 c.435+429C>T Uncertain significance Single submitter
- ANXA7 p.Ala160Asp Uncertain significance Single submitter
- ANXA7 p.Ala160Thr Uncertain significance Single submitter
- ANXA7 p.Ala204Glu Uncertain significance Single submitter
- ANXA7 p.Ala62Val Uncertain significance Single submitter
- ANXA7 p.Arg158Gln Uncertain significance Single submitter
- ANXA7 p.Arg173Cys Uncertain significance Single submitter
- ANXA7 p.Arg173Leu Uncertain significance Single submitter
- ANXA7 p.Arg193Cys Uncertain significance Single submitter
- ANXA7 p.Arg326His Uncertain significance Single submitter
- ANXA7 p.Arg363Gly Uncertain significance Single submitter
- ANXA7 p.Arg367Gln Uncertain significance Single submitter
- ANXA7 p.Arg367Gly Uncertain significance Single submitter
- ANXA7 p.Arg375Cys Uncertain significance Single submitter
- ANXA7 p.Arg375His Uncertain significance Single submitter
- ANXA7 p.Arg395His Uncertain significance Single submitter
- ANXA7 p.Asn224Lys Uncertain significance Single submitter
- ANXA7 p.Asp164Asn Uncertain significance Single submitter
- ANXA7 p.Gln22Lys Uncertain significance Single submitter
- ANXA7 p.Glu220Asp Uncertain significance Single submitter
- ANXA7 p.Glu255Asp Uncertain significance Single submitter
- ANXA7 p.Glu272Lys Uncertain significance Single submitter
- ANXA7 p.Gly58Glu Uncertain significance Single submitter
- ANXA7 p.Gly90Arg Uncertain significance Single submitter
- ANXA7 p.Gly99Glu Uncertain significance Single submitter
- ANXA7 p.Ile463Thr Uncertain significance Single submitter
- ANXA7 p.Lys200Glu Uncertain significance Single submitter
- ANXA7 p.Met447Val Uncertain significance Single submitter
- ANXA7 p.Phe281Ile Uncertain significance Single submitter
- ANXA7 p.Pro12Leu Uncertain significance Single submitter
- ANXA7 p.Pro85Ser Uncertain significance Single submitter
- ANXA7 p.Pro8Ser Uncertain significance Single submitter
- ANXA7 p.Ser52Arg Uncertain significance Single submitter
- ANXA7 p.Thr9Lys Uncertain significance Single submitter
- ANXA7 p.Tyr32Cys Uncertain significance Single submitter
- ANXA7 p.Pro352Leu Uncertain significance No assertion criteria
All ANXA7 variants
Likely pathogenic 1
- c.1089+1G>T Single submitter
Likely benign 3
- p.Ala437Thr Single submitter
- p.Asp455His Single submitter
- p.Thr337= Single submitter
Uncertain significance 69
- c.435+423C>G Single submitter ⚠
- c.435+429C>T Single submitter ⚠
- c.435+444T>C Single submitter ⚠
- c.435+450C>T Single submitter ⚠
- c.435+452G>A Single submitter ⚠
- c.435+459T>C Single submitter ⚠
- p.Ala160Asp Single submitter ⚠
- p.Ala160Thr Single submitter ⚠
- p.Ala165Pro Single submitter ⚠
- p.Ala204Glu Single submitter ⚠
- p.Ala20Ser Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg173Cys Single submitter ⚠
- p.Arg173Leu Single submitter ⚠
- p.Arg193Cys Single submitter ⚠
- p.Arg198Gly Single submitter ⚠
- p.Arg256Cys Single submitter ⚠
- p.Arg256His Single submitter ⚠
- p.Arg290Lys Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg326Pro Single submitter ⚠
- p.Arg363Gly Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg367Gly Single submitter ⚠
- p.Arg375Cys Single submitter ⚠
- p.Arg375His Single submitter ⚠
- p.Arg395His Single submitter ⚠
- p.Arg419Trp Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Asn224Lys Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp338Gly Single submitter ⚠
- p.Gln22Lys Single submitter ⚠
- p.Gln466Pro Single submitter ⚠
- p.Glu220Asp Single submitter ⚠
- p.Glu255Asp Single submitter ⚠
- p.Glu272Lys Single submitter ⚠
- p.Gly58Glu Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.Gly99Glu Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile186Val Single submitter ⚠
- p.Ile463Thr Single submitter ⚠
- p.Leu244Ser Single submitter ⚠
- p.Leu385Phe Single submitter ⚠
- p.Lys200Glu Single submitter ⚠
- p.Met176Ile Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Met304Thr Single submitter ⚠
- p.Met435Leu Single submitter ⚠
- p.Met447Val Single submitter ⚠
- p.Phe281Ile Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro146Ser Single submitter ⚠
- p.Pro352Ser Single submitter ⚠
- p.Pro85Ser Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Ser243Asn Single submitter ⚠
- p.Ser243Gly Single submitter ⚠
- p.Ser383Asn Single submitter ⚠
- p.Ser52Arg Single submitter ⚠
- p.Thr141Ala Single submitter ⚠
- p.Thr446Ser Single submitter ⚠
- p.Thr9Lys Single submitter ⚠
- p.Tyr32Cys Single submitter ⚠
- p.Pro352Leu No assertion criteria ⚠