ATG9B — 145 ClinVar variants
All ClinVar germline ATG9B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Likely pathogenic · 8 Likely benign · 136 Uncertain significance
Full ATG9B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG9B p.Ala209Gly Uncertain significance Single submitter
- ATG9B p.Ala243Gly Uncertain significance Single submitter
- ATG9B p.Ala272Gly Uncertain significance Single submitter
- ATG9B p.Ala316Val Uncertain significance Single submitter
- ATG9B p.Ala504Ser Uncertain significance Single submitter
- ATG9B p.Ala506Pro Uncertain significance Single submitter
- ATG9B p.Ala506Val Uncertain significance Single submitter
- ATG9B p.Ala512Val Uncertain significance Single submitter
- ATG9B p.Ala517Gly Uncertain significance Single submitter
- ATG9B p.Ala95Thr Uncertain significance Single submitter
- ATG9B p.Arg16Trp Uncertain significance Single submitter
- ATG9B p.Arg234Gln Uncertain significance Single submitter
- ATG9B p.Arg276Cys Uncertain significance Single submitter
- ATG9B p.Arg437His Uncertain significance Single submitter
- ATG9B p.Arg437Leu Uncertain significance Single submitter
- ATG9B p.Arg470Gln Uncertain significance Single submitter
- ATG9B p.Arg508Gly Uncertain significance Single submitter
- ATG9B p.Arg584His Uncertain significance Single submitter
- ATG9B p.Arg698His Uncertain significance Single submitter
- ATG9B p.Asp356His Uncertain significance Single submitter
- ATG9B p.Cys301Tyr Uncertain significance Single submitter
- ATG9B p.Cys87Phe Uncertain significance Single submitter
- ATG9B p.Gln131Glu Uncertain significance Single submitter
- ATG9B p.Gln163Glu Uncertain significance Single submitter
- ATG9B p.Gln587Glu Uncertain significance Single submitter
- ATG9B p.Gln591His Uncertain significance Single submitter
- ATG9B p.Gln85Lys Uncertain significance Single submitter
- ATG9B p.Glu152Lys Uncertain significance Single submitter
- ATG9B p.Gly143Asp Uncertain significance Single submitter
- ATG9B p.Gly181Arg Uncertain significance Single submitter
- ATG9B p.Gly253Glu Uncertain significance Single submitter
- ATG9B p.Gly290Ser Uncertain significance Single submitter
- ATG9B p.Gly429Asp Uncertain significance Single submitter
- ATG9B p.Gly566Arg Uncertain significance Single submitter
- ATG9B p.Gly72Val Uncertain significance Single submitter
- ATG9B p.Gly8Ala Uncertain significance Single submitter
- ATG9B p.Gly8Val Uncertain significance Single submitter
- ATG9B p.His177Pro Uncertain significance Single submitter
- ATG9B p.His249Gln Uncertain significance Single submitter
- ATG9B p.Leu192Pro Uncertain significance Single submitter
- ATG9B p.Met597Thr Uncertain significance Single submitter
- ATG9B p.Pro121Thr Uncertain significance Single submitter
- ATG9B p.Pro124Arg Uncertain significance Single submitter
- ATG9B p.Pro134Ser Uncertain significance Single submitter
- ATG9B p.Pro144Leu Uncertain significance Single submitter
- ATG9B p.Pro252Ser Uncertain significance Single submitter
- ATG9B p.Pro26Ser Uncertain significance Single submitter
- ATG9B p.Pro279Ser Uncertain significance Single submitter
- ATG9B p.Pro408Ser Uncertain significance Single submitter
- ATG9B p.Pro473Ser Uncertain significance Single submitter
- ATG9B p.Pro520Ala Uncertain significance Single submitter
- ATG9B p.Pro634Arg Uncertain significance Single submitter
- ATG9B p.Pro97Leu Uncertain significance Single submitter
- ATG9B p.Pro98Ala Uncertain significance Single submitter
- ATG9B p.Pro98Thr Uncertain significance Single submitter
- ATG9B p.Ser111Ala Uncertain significance Single submitter
- ATG9B p.Ser118Pro Uncertain significance Single submitter
- ATG9B p.Ser137Tyr Uncertain significance Single submitter
- ATG9B p.Ser201Arg Uncertain significance Single submitter
- ATG9B p.Ser24Leu Uncertain significance Single submitter
- ATG9B p.Ser388Gly Uncertain significance Single submitter
- ATG9B p.Ser62Ala Uncertain significance Single submitter
- ATG9B p.Ser62Phe Uncertain significance Single submitter
- ATG9B p.Ser687Leu Uncertain significance Single submitter
- ATG9B p.Thr119Ile Uncertain significance Single submitter
- ATG9B p.Thr546Asn Uncertain significance Single submitter
- ATG9B p.Trp7Arg Uncertain significance Single submitter
- ATG9B p.Trp7Cys Uncertain significance Single submitter
- ATG9B p.Trp7Leu Uncertain significance Single submitter
- ATG9B p.Tyr238Cys Uncertain significance Single submitter
- ATG9B p.Val311Leu Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ATG9B p.Ala624Pro Uncertain significance Single submitter
- ATG9B p.Ala693Pro Uncertain significance Single submitter
- ATG9B p.Ala693Thr Uncertain significance Single submitter
- ATG9B p.Arg205Trp Uncertain significance Single submitter
- ATG9B p.Arg234Pro Uncertain significance Single submitter
- ATG9B p.Arg471Cys Uncertain significance Single submitter
- ATG9B p.Asn239Ile Uncertain significance Single submitter
- ATG9B p.Gln340Arg Uncertain significance Single submitter
- ATG9B p.His598Arg Uncertain significance Single submitter
- ATG9B p.Ile225Phe Uncertain significance Single submitter
- ATG9B p.Leu336Phe Uncertain significance Single submitter
- ATG9B p.Leu355Val Uncertain significance Single submitter
- ATG9B p.Phe462Leu Uncertain significance Single submitter
- ATG9B p.Pro419Leu Uncertain significance Single submitter
- ATG9B p.Pro451Leu Uncertain significance Single submitter
- ATG9B p.Pro473Ala Uncertain significance Single submitter
- ATG9B p.Pro519Leu Uncertain significance Single submitter
- ATG9B p.Pro601Arg Uncertain significance Single submitter
- ATG9B p.Pro638Ser Uncertain significance Single submitter
- ATG9B p.Pro647Leu Uncertain significance Single submitter
- ATG9B p.Ser671Cys Uncertain significance Single submitter
- ATG9B p.Thr704Ser Uncertain significance Single submitter
- ATG9B p.Val625Phe Uncertain significance Single submitter
- ATG9B p.Val677Met Uncertain significance Single submitter
All ATG9B variants
Likely pathogenic 1
- p.Glu494Ter Single submitter primary ovarian failure
Likely benign 8
- c.424G>A Single submitter
- p.Ala443= Single submitter
- p.Arg350= Single submitter
- p.Gly220= Single submitter
- p.Pro124Ser Single submitter
- p.Pro254Leu Single submitter
- p.Pro349= Single submitter
- p.Pro606Ala Single submitter
Uncertain significance 136
- c.1003C>A Single submitter
- c.1049G>T Single submitter
- c.1060G>A Single submitter
- c.1074C>G Single submitter
- c.1088G>A Single submitter
- c.1117A>G Single submitter
- c.1124G>C Single submitter
- c.112C>T Single submitter
- c.1166C>T Single submitter
- c.121C>T Single submitter
- c.1283G>C Single submitter
- c.1379A>C Single submitter
- c.1390A>G Single submitter
- c.1469G>A Single submitter
- c.1492G>C Single submitter
- c.1547C>T Single submitter
- c.1661C>T Single submitter
- c.1724T>C Single submitter
- c.1766T>C Single submitter
- c.1817C>T Single submitter
- c.182G>A Single submitter
- c.1868G>A Single submitter
- c.1913C>T Single submitter
- c.1915C>A Single submitter
- c.1936C>T Single submitter
- c.2096C>T Single submitter
- c.371C>T Single submitter
- c.377C>T Single submitter
- c.422G>A Single submitter
- c.440C>G Single submitter
- c.457C>T Single submitter
- c.47G>A Single submitter
- c.504C>A Single submitter
- c.656T>C Single submitter
- c.662A>G Single submitter
- c.703T>C Single submitter
- c.710A>G Single submitter
- c.92C>T Single submitter
- c.982C>A Single submitter
- p.Ala209Gly Single submitter ⚠
- p.Ala243Gly Single submitter ⚠
- p.Ala272Gly Single submitter ⚠
- p.Ala316Val Single submitter ⚠
- p.Ala504Ser Single submitter ⚠
- p.Ala506Pro Single submitter ⚠
- p.Ala506Val Single submitter ⚠
- p.Ala512Val Single submitter ⚠
- p.Ala517Gly Single submitter ⚠
- p.Ala624Pro Single submitter ⚠
- p.Ala693Pro Single submitter ⚠
- p.Ala693Thr Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg16Trp Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg234Pro Single submitter ⚠
- p.Arg276Cys Single submitter ⚠
- p.Arg437His Single submitter ⚠
- p.Arg437Leu Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg471Cys Single submitter ⚠
- p.Arg508Gly Single submitter ⚠
- p.Arg584His Single submitter ⚠
- p.Arg679Ser Single submitter
- p.Arg698His Single submitter ⚠
- p.Asn239Ile Single submitter ⚠
- p.Asp356His Single submitter ⚠
- p.Cys301Tyr Single submitter ⚠
- p.Cys87Phe Single submitter ⚠
- p.Gln131Glu Single submitter ⚠
- p.Gln163Glu Single submitter ⚠
- p.Gln340Arg Single submitter ⚠
- p.Gln587Glu Single submitter ⚠
- p.Gln591His Single submitter ⚠
- p.Gln85Lys Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Gly143Asp Single submitter ⚠
- p.Gly181Arg Single submitter ⚠
- p.Gly253Glu Single submitter ⚠
- p.Gly290Ser Single submitter ⚠
- p.Gly429Asp Single submitter ⚠
- p.Gly566Arg Single submitter ⚠
- p.Gly72Val Single submitter ⚠
- p.Gly8Ala Single submitter ⚠
- p.Gly8Val Single submitter ⚠
- p.His177Pro Single submitter ⚠
- p.His249Gln Single submitter ⚠
- p.His598Arg Single submitter ⚠
- p.Ile225Phe Single submitter ⚠
- p.Leu192Pro Single submitter ⚠
- p.Leu285Pro Single submitter
- p.Leu336Phe Single submitter ⚠
- p.Leu355Val Single submitter ⚠
- p.Met597Thr Single submitter ⚠
- p.Phe462Leu Single submitter ⚠
- p.Pro121Thr Single submitter ⚠
- p.Pro124Arg Single submitter ⚠
- p.Pro134Ser Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Pro252Ser Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro408Ser Single submitter ⚠
- p.Pro419Leu Single submitter ⚠
- p.Pro451Leu Single submitter ⚠
- p.Pro473Ala Single submitter ⚠
- p.Pro473Ser Single submitter ⚠
- p.Pro519Leu Single submitter ⚠
- p.Pro520Ala Single submitter ⚠
- p.Pro601Arg Single submitter ⚠
- p.Pro634Arg Single submitter ⚠
- p.Pro638Ser Single submitter ⚠
- p.Pro647Leu Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Pro98Ala Single submitter ⚠
- p.Pro98Thr Single submitter ⚠
- p.Ser111Ala Single submitter ⚠
- p.Ser118Pro Single submitter ⚠
- p.Ser137Tyr Single submitter ⚠
- p.Ser201Arg Single submitter ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser388Gly Single submitter ⚠
- p.Ser62Ala Single submitter ⚠
- p.Ser62Phe Single submitter ⚠
- p.Ser671Cys Single submitter ⚠
- p.Ser687Leu Single submitter ⚠
- p.Thr119Ile Single submitter ⚠
- p.Thr546Asn Single submitter ⚠
- p.Thr704Ser Single submitter ⚠
- p.Trp7Arg Single submitter ⚠
- p.Trp7Cys Single submitter ⚠
- p.Trp7Leu Single submitter ⚠
- p.Tyr238Cys Single submitter ⚠
- p.Val311Leu Single submitter ⚠
- p.Val625Phe Single submitter ⚠
- p.Val677Met Single submitter ⚠