ATG4B — 70 ClinVar variants
All ClinVar germline ATG4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
1 Benign · 4 Likely benign · 65 Uncertain significance
Full ATG4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATG4B p.Ala165Val Uncertain significance Single submitter
- ATG4B p.Ala192Thr Uncertain significance Single submitter
- ATG4B p.Ala197Val Uncertain significance Single submitter
- ATG4B p.Ala208Gly Uncertain significance Single submitter
- ATG4B p.Ala311Val Uncertain significance Single submitter
- ATG4B p.Arg12Gln Uncertain significance Single submitter
- ATG4B p.Arg12Trp Uncertain significance Single submitter
- ATG4B p.Arg201Gln Uncertain significance Single submitter
- ATG4B p.Arg201Leu Uncertain significance Single submitter
- ATG4B p.Arg201Trp Uncertain significance Single submitter
- ATG4B p.Arg77Gln Uncertain significance Single submitter
- ATG4B p.Arg90Trp Uncertain significance Single submitter
- ATG4B p.Asn113Ser Uncertain significance Single submitter
- ATG4B p.Asn214Ile Uncertain significance Single submitter
- ATG4B p.Asn330Ile Uncertain significance Single submitter
- ATG4B p.Asp200Asn Uncertain significance Single submitter
- ATG4B p.Asp373Ala Uncertain significance Single submitter
- ATG4B p.Cys203Ser Uncertain significance Single submitter
- ATG4B p.Cys306Gly Uncertain significance Single submitter
- ATG4B p.Cys323Phe Uncertain significance Single submitter
- ATG4B p.Cys361Phe Uncertain significance Single submitter
- ATG4B p.Gln302His Uncertain significance Single submitter
- ATG4B p.Glu21Asp Uncertain significance Single submitter
- ATG4B p.Glu237Lys Uncertain significance Single submitter
- ATG4B p.Glu41Ala Uncertain significance Single submitter
- ATG4B p.Glu41Lys Uncertain significance Single submitter
- ATG4B p.Gly209Ala Uncertain significance Single submitter
- ATG4B p.Gly209Arg Uncertain significance Single submitter
- ATG4B p.Gly62Ala Uncertain significance Single submitter
- ATG4B p.Gly62Val Uncertain significance Single submitter
- ATG4B p.His300Tyr Uncertain significance Single submitter
- ATG4B p.Ile116Val Uncertain significance Single submitter
- ATG4B p.Ile139Thr Uncertain significance Single submitter
- ATG4B p.Ile275Val Uncertain significance Single submitter
- ATG4B p.Ile42Phe Uncertain significance Single submitter
- ATG4B p.Ile42Val Uncertain significance Single submitter
- ATG4B p.Leu228Arg Uncertain significance Single submitter
- ATG4B p.Leu339Val Uncertain significance Single submitter
- ATG4B p.Met170Val Uncertain significance Single submitter
- ATG4B p.Met308Leu Uncertain significance Single submitter
- ATG4B p.Phe195Val Uncertain significance Single submitter
- ATG4B p.Pro188Leu Uncertain significance Single submitter
- ATG4B p.Pro216Leu Uncertain significance Single submitter
- ATG4B p.Pro304Leu Uncertain significance Single submitter
- ATG4B p.Ser107Gly Uncertain significance Single submitter
- ATG4B p.Ser110Arg Uncertain significance Single submitter
- ATG4B p.Ser217Pro Uncertain significance Single submitter
- ATG4B p.Thr10Ser Uncertain significance Single submitter
- ATG4B p.Thr193Ile Uncertain significance Single submitter
- ATG4B p.Tyr108Cys Uncertain significance Single submitter
- ATG4B p.Tyr122His Uncertain significance Single submitter
- ATG4B p.Val175Gly Uncertain significance Single submitter
- ATG4B p.Val255Ile Uncertain significance Single submitter
- ATG4B p.Val26Ile Uncertain significance Single submitter
- ATG4B p.Val364Ile Uncertain significance Single submitter
- ATG4B p.Val374Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ATG4B variants
Benign 1
- c.112+5C>T Multiple submitters
Likely benign 4
- c.539-8C>T Single submitter
- p.Asp373= Single submitter
- p.Leu339= Single submitter
- p.Tyr8= Single submitter
Uncertain significance 65
- p.Ala165Val Single submitter ⚠
- p.Ala192Thr Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala208Gly Single submitter ⚠
- p.Ala311Val Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg201Leu Single submitter ⚠
- p.Arg201Trp Single submitter ⚠
- p.Arg307Cys Single submitter
- p.Arg77Gln Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn214Ile Single submitter ⚠
- p.Asn330Ile Single submitter ⚠
- p.Asp200Asn Single submitter ⚠
- p.Asp373Ala Single submitter ⚠
- p.Cys203Ser Single submitter ⚠
- p.Cys306Gly Single submitter ⚠
- p.Cys323Phe Single submitter ⚠
- p.Cys361Phe Single submitter ⚠
- p.Gln302His Single submitter ⚠
- p.Glu21Asp Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu41Ala Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Gly209Ala Single submitter ⚠
- p.Gly209Arg Single submitter ⚠
- p.Gly62Ala Single submitter ⚠
- p.Gly62Val Single submitter ⚠
- p.His300Tyr Single submitter ⚠
- p.Ile116Val Single submitter ⚠
- p.Ile139Thr Single submitter ⚠
- p.Ile275Val Single submitter ⚠
- p.Ile42Phe Single submitter ⚠
- p.Ile42Val Single submitter ⚠
- p.Leu228Arg Single submitter ⚠
- p.Leu339Val Single submitter ⚠
- p.Leu92Ile Single submitter ⚠
- p.Met170Val Single submitter ⚠
- p.Met308Leu Single submitter ⚠
- p.Phe195Val Single submitter ⚠
- p.Pro188Leu Single submitter ⚠
- p.Pro20Arg Single submitter
- p.Pro216Leu Single submitter ⚠
- p.Pro221Ser Single submitter
- p.Pro304Leu Single submitter ⚠
- p.Pro305Leu Single submitter
- p.Ser107Gly Single submitter ⚠
- p.Ser110Arg Single submitter ⚠
- p.Ser217Pro Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Thr193Ile Single submitter ⚠
- p.Thr242Met Single submitter ⚠
- p.Thr282Ser Single submitter
- p.Trp27Ter Single submitter
- p.Tyr108Cys Single submitter ⚠
- p.Tyr122His Single submitter ⚠
- p.Val175Gly Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val26Ile Single submitter ⚠
- p.Val364Ile Single submitter ⚠
- p.Val374Ala Single submitter ⚠