ANAPC7 — 69 ClinVar variants
All ClinVar germline ANAPC7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Pathogenic · 7 Likely benign · 61 Uncertain significance
Full ANAPC7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANAPC7 c.-14C>T Uncertain significance Single submitter
- ANAPC7 c.-23T>A Uncertain significance Single submitter
- ANAPC7 c.-50G>T Uncertain significance Single submitter
- ANAPC7 c.-56T>A Uncertain significance Single submitter
- ANAPC7 c.-57C>G Uncertain significance Single submitter
- ANAPC7 c.-60A>T Uncertain significance Single submitter
- ANAPC7 c.-72T>A Uncertain significance Single submitter
- ANAPC7 c.-72T>G Uncertain significance Single submitter
- ANAPC7 c.-75G>C Uncertain significance Single submitter
- ANAPC7 p.Ala123Val Uncertain significance Single submitter
- ANAPC7 p.Ala13Ser Uncertain significance Single submitter
- ANAPC7 p.Ala13Val Uncertain significance Single submitter
- ANAPC7 p.Ala168Ser Uncertain significance Single submitter
- ANAPC7 p.Ala468Thr Uncertain significance Single submitter
- ANAPC7 p.Ala487Thr Uncertain significance Single submitter
- ANAPC7 p.Arg286Gln Uncertain significance Single submitter
- ANAPC7 p.Asp289Asn Uncertain significance Single submitter
- ANAPC7 p.Gln194His Uncertain significance Single submitter
- ANAPC7 p.Glu288Asp Uncertain significance Single submitter
- ANAPC7 p.Leu258Phe Uncertain significance Single submitter
- ANAPC7 p.Leu76Pro Uncertain significance Single submitter
- ANAPC7 p.Leu98Ile Uncertain significance Single submitter
- ANAPC7 p.Met10Leu Uncertain significance Single submitter
- ANAPC7 p.Pro34Ser Uncertain significance Single submitter
- ANAPC7 p.Ser338Gly Uncertain significance Single submitter
- ANAPC7 p.Ser539Asn Uncertain significance Single submitter
- ANAPC7 p.Ser89Thr Uncertain significance Single submitter
- ANAPC7 p.Thr528Ala Uncertain significance Single submitter
- ANAPC7 p.Thr67Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All ANAPC7 variants
Pathogenic 1
- c.409-2478_818-89del No assertion criteria Ferguson-Bonni neurodevelopmental syndrome
Likely benign 7
- c.101+2046A>G Single submitter Ferguson-Bonni neurodevelopmental syndrome
- c.936-11T>C Single submitter
- c.936-7dup Single submitter
- c.936-9_936-7del Single submitter
- c.-19C>G Single submitter
- c.-57C>T Single submitter
- p.Thr415= Single submitter
Uncertain significance 61
- c.-14C>T Single submitter ⚠
- c.-23T>A Single submitter ⚠
- c.-32T>C Single submitter
- c.-50G>T Single submitter ⚠
- c.-56T>A Single submitter ⚠
- c.-57C>G Single submitter ⚠
- c.-60A>T Single submitter ⚠
- c.-72T>A Single submitter ⚠
- c.-72T>G Single submitter ⚠
- c.-75G>C Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala13Ser Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala168Ser Single submitter ⚠
- p.Ala396Ser Single submitter
- p.Ala407Thr Single submitter
- p.Ala468Thr Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Arg133Thr Single submitter
- p.Arg152Ser Single submitter
- p.Arg286Gln Single submitter ⚠
- p.Arg350Ser Single submitter
- p.Arg363Trp Single submitter
- p.Arg372Gly Single submitter
- p.Asn198Tyr Single submitter
- p.Asn335Lys Single submitter
- p.Asn398Asp Single submitter
- p.Asp252Glu Single submitter
- p.Asp267His Single submitter
- p.Asp289Asn Single submitter ⚠
- p.Cys165fs Single submitter Ferguson-Bonni neurodevelopmental syndrome
- p.Cys165Tyr Single submitter
- p.Gln194His Single submitter ⚠
- p.Gln194Pro Single submitter
- p.Gln509Glu Single submitter
- p.Glu288Asp Single submitter ⚠
- p.Glu541Lys Single submitter ⚠
- p.Gly241Glu Single submitter
- p.His49Tyr Single submitter
- p.Leu258Phe Single submitter ⚠
- p.Leu46Ser Single submitter Ferguson-Bonni neurodevelopmental syndrome
- p.Leu76Pro Single submitter ⚠
- p.Leu98Ile Single submitter ⚠
- p.Lys319Asn Single submitter
- p.Met108Thr Single submitter
- p.Met10Leu Single submitter ⚠
- p.Phe54fs Single submitter
- p.Pro307Leu Single submitter
- p.Pro34Ser Single submitter ⚠
- p.Pro370Ser Single submitter
- p.Ser338Gly Single submitter ⚠
- p.Ser386Tyr Single submitter
- p.Ser38Phe Single submitter
- p.Ser52Cys Single submitter
- p.Ser539Asn Single submitter ⚠
- p.Ser89Thr Single submitter ⚠
- p.Thr415del Single submitter Ferguson-Bonni neurodevelopmental syndrome
- p.Thr528Ala Single submitter ⚠
- p.Thr67Ala Single submitter ⚠
- p.Trp201Cys Single submitter
- p.Tyr277Cys Single submitter