ATG16L1 — 64 ClinVar variants
All ClinVar germline ATG16L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Benign · 10 Likely benign · 52 Uncertain significance
Full ATG16L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG16L1 p.Ala263Val Uncertain significance Single submitter
- ATG16L1 p.Ala421Val Uncertain significance Single submitter
- ATG16L1 p.Ala521Thr Uncertain significance Single submitter
- ATG16L1 p.Ala53Ser Uncertain significance Single submitter
- ATG16L1 p.Ala7Thr Uncertain significance Single submitter
- ATG16L1 p.Arg122Gly Uncertain significance Single submitter
-
ATG16L1 p.Arg258Gln
Uncertain significance
Single submitter
inflammatory bowel disease 10
- ATG16L1 p.Arg430Gln Uncertain significance Single submitter
- ATG16L1 p.Arg66Gly Uncertain significance Single submitter
- ATG16L1 p.Asn420Ser Uncertain significance Single submitter
- ATG16L1 p.Asp121Glu Uncertain significance Single submitter
- ATG16L1 p.Asp239Tyr Uncertain significance Single submitter
- ATG16L1 p.Asp296Asn Uncertain significance Single submitter
- ATG16L1 p.Asp516Gly Uncertain significance Single submitter
- ATG16L1 p.Asp74Asn Uncertain significance Single submitter
- ATG16L1 p.Gln575Arg Uncertain significance Single submitter
- ATG16L1 p.Gln81His Uncertain significance Single submitter
- ATG16L1 p.Glu350Asp Uncertain significance Single submitter
- ATG16L1 p.Glu59Gly Uncertain significance Single submitter
- ATG16L1 p.Gly368Arg Uncertain significance Single submitter
- ATG16L1 p.Gly534Ser Uncertain significance Single submitter
- ATG16L1 p.Leu400Ser Uncertain significance Single submitter
- ATG16L1 p.Leu42Phe Uncertain significance Single submitter
- ATG16L1 p.Phe358Leu Uncertain significance Single submitter
- ATG16L1 p.Pro292Ala Uncertain significance Single submitter
- ATG16L1 p.Pro529Ser Uncertain significance Single submitter
- ATG16L1 p.Ser18Leu Uncertain significance Single submitter
- ATG16L1 p.Ser480Asn Uncertain significance Single submitter
- ATG16L1 p.Thr247Ala Uncertain significance Single submitter
- ATG16L1 p.Tyr607Cys Uncertain significance Single submitter
- ATG16L1 p.Val288Ile Uncertain significance Single submitter
- ATG16L1 p.Val441Ile Uncertain significance Single submitter
- ATG16L1 p.Val51Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- ATG16L1 p.Ala384Thr Uncertain significance Single submitter
- ATG16L1 p.Ala584Val Uncertain significance Single submitter
- ATG16L1 p.Arg119Trp Uncertain significance Single submitter
- ATG16L1 p.Arg286Cys Uncertain significance Single submitter
- ATG16L1 p.Arg399Gln Uncertain significance Single submitter
- ATG16L1 p.Asp47His Uncertain significance Single submitter
- ATG16L1 p.Glu484Asp Uncertain significance Single submitter
- ATG16L1 p.Ile515Thr Uncertain significance Single submitter
- ATG16L1 p.Leu148Val Uncertain significance Single submitter
- ATG16L1 p.Leu517Phe Uncertain significance Single submitter
- ATG16L1 p.Lys570Asn Uncertain significance Single submitter
- ATG16L1 p.Pro587Ser Uncertain significance Single submitter
- ATG16L1 p.Ser261Asn Uncertain significance Single submitter
- ATG16L1 p.Ser361Phe Uncertain significance Single submitter
- ATG16L1 p.Ser547Asn Uncertain significance Single submitter
- ATG16L1 p.Thr137Ser Uncertain significance Single submitter
- ATG16L1 p.Thr143Met Uncertain significance Single submitter
- ATG16L1 p.Thr172Ala Uncertain significance Single submitter
All ATG16L1 variants
Benign 2
- p.Asp596= Multiple submitters
- p.Thr300Ala Multiple submitters
Likely benign 10
- p.Gly178Glu Single submitter
- p.Ile522Val Single submitter
- p.Leu558= Single submitter
- p.Ser543= Single submitter
- p.Val63Ile Single submitter
- p.Arg219Gln No assertion criteria ATG16L1-related disorder
- p.Gln20= No assertion criteria ATG16L1-related disorder
- p.His428= No assertion criteria ATG16L1-related disorder
- p.Thr184= No assertion criteria ATG16L1-related disorder
- p.Val593= No assertion criteria ATG16L1-related disorder
Uncertain significance 52
- p.Ala263Val Single submitter ⚠
- p.Ala384Thr Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala521Thr Single submitter ⚠
- p.Ala53Ser Single submitter ⚠
- p.Ala584Val Single submitter ⚠
- p.Ala7Thr Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg122Gly Single submitter ⚠
- p.Arg258Gln Single submitter inflammatory bowel disease 10 ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg399Gln Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg66Gly Single submitter ⚠
- p.Asn420Ser Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Asp239Tyr Single submitter ⚠
- p.Asp296Asn Single submitter ⚠
- p.Asp47His Single submitter ⚠
- p.Asp516Gly Single submitter ⚠
- p.Asp74Asn Single submitter ⚠
- p.Gln575Arg Single submitter ⚠
- p.Gln81His Single submitter ⚠
- p.Glu350Asp Single submitter ⚠
- p.Glu484Asp Single submitter ⚠
- p.Glu59Gly Single submitter ⚠
- p.Gly368Arg Single submitter ⚠
- p.Gly534Ser Single submitter ⚠
- p.Ile515Thr Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu400Ser Single submitter ⚠
- p.Leu42Phe Single submitter ⚠
- p.Leu517Phe Single submitter ⚠
- p.Lys211fs Single submitter inflammatory bowel disease 10
- p.Lys570Asn Single submitter ⚠
- p.Phe358Leu Single submitter ⚠
- p.Pro292Ala Single submitter ⚠
- p.Pro529Ser Single submitter ⚠
- p.Pro587Ser Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser261Asn Single submitter ⚠
- p.Ser361Phe Single submitter ⚠
- p.Ser480Asn Single submitter ⚠
- p.Ser547Asn Single submitter ⚠
- p.Thr137Ser Single submitter ⚠
- p.Thr143Met Single submitter ⚠
- p.Thr172Ala Single submitter ⚠
- p.Thr247Ala Single submitter ⚠
- p.Tyr607Cys Single submitter ⚠
- p.Val288Ile Single submitter ⚠
- p.Val441Ile Single submitter ⚠
- p.Val51Ala Single submitter ⚠