AGBL4 — 74 ClinVar variants
All ClinVar germline AGBL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
6 Benign · 5 Likely benign · 63 Uncertain significance
Full AGBL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGBL4 p.Ala480Gly Uncertain significance Single submitter
- AGBL4 p.Ala480Val Uncertain significance Single submitter
- AGBL4 p.Arg258Gln Uncertain significance Single submitter
- AGBL4 p.Arg348Trp Uncertain significance Single submitter
- AGBL4 p.Arg351Ser Uncertain significance Single submitter
- AGBL4 p.Arg385Cys Uncertain significance Single submitter
- AGBL4 p.Arg385Gly Uncertain significance Single submitter
- AGBL4 p.Arg439Gln Uncertain significance Single submitter
- AGBL4 p.Arg463Lys Uncertain significance Single submitter
- AGBL4 p.Arg477Gln Uncertain significance Single submitter
- AGBL4 p.Arg78Cys Uncertain significance Single submitter
- AGBL4 p.Arg78His Uncertain significance Single submitter
- AGBL4 p.Asn13Ser Uncertain significance Single submitter
- AGBL4 p.Asn270Tyr Uncertain significance Single submitter
- AGBL4 p.Asn278Ser Uncertain significance Single submitter
- AGBL4 p.Asn456Ser Uncertain significance Single submitter
- AGBL4 p.Asp245Gly Uncertain significance Single submitter
- AGBL4 p.Asp489Asn Uncertain significance Single submitter
- AGBL4 p.Gln6His Uncertain significance Single submitter
- AGBL4 p.Glu458Asp Uncertain significance Single submitter
- AGBL4 p.Gly488Arg Uncertain significance Single submitter
- AGBL4 p.His304Tyr Uncertain significance Single submitter
- AGBL4 p.Ile243Met Uncertain significance Single submitter
- AGBL4 p.Ile243Thr Uncertain significance Single submitter
- AGBL4 p.Ile342Val Uncertain significance Single submitter
- AGBL4 p.Ile409Leu Uncertain significance Single submitter
- AGBL4 p.Leu358Phe Uncertain significance Single submitter
- AGBL4 p.Leu55Pro Uncertain significance Single submitter
- AGBL4 p.Lys357Arg Uncertain significance Single submitter
- AGBL4 p.Met268Ile Uncertain significance Single submitter
- AGBL4 p.Met338Ile Uncertain significance Single submitter
- AGBL4 p.Pro417Thr Uncertain significance Single submitter
- AGBL4 p.Pro452Leu Uncertain significance Single submitter
- AGBL4 p.Pro479Thr Uncertain significance Single submitter
- AGBL4 p.Pro72Leu Uncertain significance Single submitter
- AGBL4 p.Ser370Asn Uncertain significance Single submitter
- AGBL4 p.Thr33Asn Uncertain significance Single submitter
- AGBL4 p.Thr33Ser Uncertain significance Single submitter
- AGBL4 p.Thr74Pro Uncertain significance Single submitter
- AGBL4 p.Trp292Cys Uncertain significance Single submitter
- AGBL4 p.Tyr169His Uncertain significance Single submitter
- AGBL4 p.Tyr66Asn Uncertain significance Single submitter
- AGBL4 p.Tyr66His Uncertain significance Single submitter
- AGBL4 p.Val311Phe Uncertain significance Single submitter
- AGBL4 p.Val494Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- AGBL4 p.Arg348Gln Uncertain significance Single submitter
- AGBL4 p.Arg375Trp Uncertain significance Single submitter
- AGBL4 p.Asn133Ser Uncertain significance Single submitter
- AGBL4 p.Asp392Asn Uncertain significance Single submitter
- AGBL4 p.Gln162His Uncertain significance Single submitter
- AGBL4 p.Glu216Lys Uncertain significance Single submitter
- AGBL4 p.Glu346Lys Uncertain significance Single submitter
- AGBL4 p.Gly37Arg Uncertain significance Single submitter
- AGBL4 p.Ile70Val Uncertain significance Single submitter
- AGBL4 p.Leu203Phe Uncertain significance Single submitter
- AGBL4 p.Leu309Phe Uncertain significance Single submitter
- AGBL4 p.Leu359Phe Uncertain significance Single submitter
- AGBL4 p.Lys264Arg Uncertain significance Single submitter
- AGBL4 p.Pro131His Uncertain significance Single submitter
- AGBL4 p.Ser26Gly Uncertain significance Single submitter
- AGBL4 p.Ser320Arg Uncertain significance Single submitter
- AGBL4 p.Ser468Tyr Uncertain significance Single submitter
- AGBL4 p.Thr207Met Uncertain significance Single submitter
-
AGBL4 p.Arg375Gln
Benign
No assertion criteria
AGBL4-related disorder
-
AGBL4 p.Val443Met
Benign
No assertion criteria
AGBL4-related disorder
All AGBL4 variants
Benign 6
- c.594+8C>T No assertion criteria AGBL4-related disorder
- c.725-4C>T No assertion criteria AGBL4-related disorder
- p.Arg215Gln No assertion criteria AGBL4-related disorder
- p.Arg375Gln No assertion criteria AGBL4-related disorder ⚠
- p.His142= No assertion criteria AGBL4-related disorder
- p.Val443Met No assertion criteria AGBL4-related disorder ⚠
Likely benign 5
- p.Tyr260His Single submitter
- c.282+7G>A No assertion criteria AGBL4-related disorder
- c.595-7T>G No assertion criteria AGBL4-related disorder
- p.Gly232= No assertion criteria AGBL4-related disorder
- p.Ile100= No assertion criteria AGBL4-related disorder
Uncertain significance 63
- p.Ala480Gly Single submitter ⚠
- p.Ala480Val Single submitter ⚠
- p.Arg258Gln Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg348Trp Single submitter ⚠
- p.Arg351Ser Single submitter ⚠
- p.Arg375Trp Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg385Gly Single submitter ⚠
- p.Arg439Gln Single submitter ⚠
- p.Arg463Lys Single submitter ⚠
- p.Arg477Gln Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asn270Tyr Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asp245Gly Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Asp489Asn Single submitter ⚠
- p.Gln162His Single submitter ⚠
- p.Gln6His Single submitter ⚠
- p.Glu216Lys Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu458Asp Single submitter ⚠
- p.Gly37Arg Single submitter ⚠
- p.Gly488Arg Single submitter ⚠
- p.His304Tyr Single submitter ⚠
- p.Ile243Met Single submitter ⚠
- p.Ile243Thr Single submitter ⚠
- p.Ile342Val Single submitter ⚠
- p.Ile409Leu Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Leu203Phe Single submitter ⚠
- p.Leu309Phe Single submitter ⚠
- p.Leu358Phe Single submitter ⚠
- p.Leu359Phe Single submitter ⚠
- p.Leu55Pro Single submitter ⚠
- p.Lys264Arg Single submitter ⚠
- p.Lys357Arg Single submitter ⚠
- p.Met268Ile Single submitter ⚠
- p.Met338Ile Single submitter ⚠
- p.Pro131His Single submitter ⚠
- p.Pro417Thr Single submitter ⚠
- p.Pro452Leu Single submitter ⚠
- p.Pro479Thr Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Ser26Gly Single submitter ⚠
- p.Ser320Arg Single submitter ⚠
- p.Ser370Asn Single submitter ⚠
- p.Ser468Tyr Single submitter ⚠
- p.Thr207Met Single submitter ⚠
- p.Thr33Asn Single submitter ⚠
- p.Thr33Ser Single submitter ⚠
- p.Thr74Pro Single submitter ⚠
- p.Trp292Cys Single submitter ⚠
- p.Tyr169His Single submitter ⚠
- p.Tyr66Asn Single submitter ⚠
- p.Tyr66His Single submitter ⚠
- p.Val311Phe Single submitter ⚠
- p.Val494Ala Single submitter ⚠