GGT1 — 134 ClinVar variants
All ClinVar germline GGT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
32 Benign · 39 Likely benign · 63 Uncertain significance
Full GGT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GGT1 p.Ala243Val Uncertain significance Single submitter
- GGT1 p.Ala29Val Uncertain significance Single submitter
- GGT1 p.Ala396Thr Uncertain significance Single submitter
- GGT1 p.Ala45Thr Uncertain significance Single submitter
- GGT1 p.Ala546Asp Uncertain significance Single submitter
- GGT1 p.Ala64Val Uncertain significance Single submitter
- GGT1 p.Arg203Gly Uncertain significance Single submitter
- GGT1 p.Arg257His Uncertain significance Single submitter
- GGT1 p.Arg530Gln Uncertain significance Single submitter
- GGT1 p.Gln308Arg Uncertain significance Single submitter
- GGT1 p.Glu206Gln Uncertain significance Single submitter
- GGT1 p.Glu348Lys Uncertain significance Single submitter
- GGT1 p.Glu432Lys Uncertain significance Single submitter
- GGT1 p.Gly380Ala Uncertain significance Single submitter
- GGT1 p.Gly473Glu Uncertain significance Single submitter
- GGT1 p.Gly62Ala Uncertain significance Single submitter
- GGT1 p.His36Arg Uncertain significance Single submitter
- GGT1 p.His531Asp Uncertain significance Single submitter
- GGT1 p.Ile241Val Uncertain significance Single submitter
- GGT1 p.Ile247Val Uncertain significance Single submitter
- GGT1 p.Ile477Leu Uncertain significance Single submitter
- GGT1 p.Ile519Thr Uncertain significance Single submitter
- GGT1 p.Met453Ile Uncertain significance Single submitter
- GGT1 p.Pro376Leu Uncertain significance Single submitter
- GGT1 p.Pro411Ala Uncertain significance Single submitter
- GGT1 p.Pro411Leu Uncertain significance Single submitter
- GGT1 p.Pro455Leu Uncertain significance Single submitter
- GGT1 p.Ser451Leu Uncertain significance Single submitter
- GGT1 p.Thr219Lys Uncertain significance Single submitter
- GGT1 p.Thr219Met Uncertain significance Single submitter
- GGT1 p.Thr481Ser Uncertain significance Single submitter
- GGT1 p.Tyr487Phe Uncertain significance Single submitter
- GGT1 p.Val109Leu Uncertain significance Single submitter
- GGT1 p.Val317Ala Uncertain significance Single submitter
- GGT1 p.Val317Ile Uncertain significance Single submitter
-
GGT1 p.Val43Met
Uncertain significance
Single submitter
gamma-glutamyl transpeptidase deficiency
- GGT1 p.Val512Ile Uncertain significance Single submitter
- GGT1 p.Val548Leu Uncertain significance Single submitter
- GGT1 p.Val6Leu Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- GGT1 p.Ala42Thr Likely benign Single submitter
- GGT1 p.Ala480Asp Uncertain significance Single submitter
- GGT1 p.Arg165Leu Uncertain significance Single submitter
- GGT1 p.Arg182Pro Uncertain significance Single submitter
- GGT1 p.Arg300Trp Likely benign Single submitter
- GGT1 p.Arg315His Uncertain significance Single submitter
- GGT1 p.Arg343Cys Uncertain significance Single submitter
- GGT1 p.Arg409Cys Uncertain significance Single submitter
- GGT1 p.Arg59Trp Uncertain significance Single submitter
- GGT1 p.Glu204Asp Uncertain significance Single submitter
- GGT1 p.Ile161Phe Uncertain significance Single submitter
- GGT1 p.Ile261Thr Uncertain significance Single submitter
- GGT1 p.Met453Val Uncertain significance Single submitter
- GGT1 p.Phe119Ile Uncertain significance Single submitter
- GGT1 p.Pro211Leu Uncertain significance Single submitter
- GGT1 p.Pro365Arg Uncertain significance Single submitter
- GGT1 p.Pro427Ser Uncertain significance Single submitter
- GGT1 p.Ser558Leu Uncertain significance Single submitter
- GGT1 p.Thr346Ala Uncertain significance Single submitter
- GGT1 p.Thr513Met Uncertain significance Single submitter
- GGT1 p.Val495Met Uncertain significance Single submitter
- GGT1 p.Val499Leu Uncertain significance Single submitter
All GGT1 variants
Benign 32
- c.1021-75A>G Multiple submitters
- c.1208+84C>T Multiple submitters
- c.1209-30C>T Multiple submitters
- c.1337-32C>T Multiple submitters
- c.1563+30A>C Multiple submitters
- c.164+139A>G Multiple submitters
- c.295+12G>A Multiple submitters
- c.296-41G>C Multiple submitters
- c.296-65T>C Multiple submitters
- c.382+15A>C Multiple submitters
- c.383-88T>C Multiple submitters
- c.383-89A>G Multiple submitters
- c.576-143A>G Multiple submitters
- c.883+144T>C Multiple submitters
- c.-7-126T>C Multiple submitters
- p.Ala133= Multiple submitters
- p.Ala177Val Multiple submitters
- p.Asp56= Multiple submitters
- p.Ser28= Multiple submitters
- p.Thr234= Multiple submitters
- p.Val272Ala Multiple submitters gamma-glutamyl transpeptidase deficiency
- c.1021-37T>C Single submitter
- c.1021-41T>C Single submitter
- c.1021-45A>C Single submitter
- c.165-145del Single submitter
- c.296-67G>A Single submitter
- c.382+175T>C Single submitter
- c.382+226T>C Single submitter
- c.382+238A>G Single submitter
- c.383-254A>G Single submitter
- c.883+175C>T Single submitter
- p.Pro455= Single submitter
Likely benign 39
- c.1337-4G>A Multiple submitters
- p.Arg466Gln Multiple submitters
- p.Ser302= Multiple submitters
- p.Thr539= Multiple submitters
- c.1021-93C>T Single submitter
- c.1337-3C>T Single submitter
- c.382+12G>T Single submitter
- c.575+21_575+33dup Single submitter
- c.576-15C>T Single submitter
- c.883+14C>T Single submitter
- p.Ala244= Single submitter
- p.Ala42Thr Single submitter ⚠
- p.Arg182Gln Single submitter
- p.Arg203Gln Single submitter
- p.Arg300Trp Single submitter ⚠
- p.Arg517Lys Single submitter
- p.Arg549His Single submitter
- p.Asn419Asp Single submitter
- p.Asn431= Single submitter
- p.Asp361His Single submitter
- p.Glu389= Single submitter
- p.Ile547= Single submitter
- p.Ile547Val Single submitter
- p.Leu233= Single submitter
- p.Leu354= Single submitter
- p.Leu5Phe Single submitter
- p.Lys52Glu Single submitter
- p.Phe491= Single submitter
- p.Pro152= Single submitter
- p.Pro284= Single submitter
- p.Ser131= Single submitter
- p.Ser347= Single submitter
- p.Thr117Ser Single submitter
- p.Thr183= Single submitter
- p.Thr479= Single submitter
- p.Val20= Single submitter
- p.Val387= Single submitter
- p.Val435= Single submitter
- p.Val468= Single submitter
Uncertain significance 63
- p.Ala243Val Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala480Asp Single submitter ⚠
- p.Ala546Asp Single submitter ⚠
- p.Ala64Val Single submitter ⚠
- p.Arg165Leu Single submitter ⚠
- p.Arg182Pro Single submitter ⚠
- p.Arg203Gly Single submitter ⚠
- p.Arg257His Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg321Gln Single submitter
- p.Arg343Cys Single submitter ⚠
- p.Arg409Cys Single submitter ⚠
- p.Arg530Gln Single submitter ⚠
- p.Arg59Trp Single submitter ⚠
- p.Asn441Ser Single submitter
- p.Gln308Arg Single submitter ⚠
- p.Glu204Asp Single submitter ⚠
- p.Glu206Gln Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu432Lys Single submitter ⚠
- p.Gly205Arg Single submitter
- p.Gly380Ala Single submitter ⚠
- p.Gly473Glu Single submitter ⚠
- p.Gly62Ala Single submitter ⚠
- p.His36Arg Single submitter ⚠
- p.His531Asp Single submitter ⚠
- p.Ile161Phe Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile247Val Single submitter ⚠
- p.Ile261Thr Single submitter ⚠
- p.Ile400Met Single submitter
- p.Ile477Leu Single submitter ⚠
- p.Ile519Thr Single submitter ⚠
- p.Met453Ile Single submitter ⚠
- p.Met453Val Single submitter ⚠
- p.Phe119Ile Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro365Arg Single submitter ⚠
- p.Pro376Leu Single submitter ⚠
- p.Pro411Ala Single submitter ⚠
- p.Pro411Leu Single submitter ⚠
- p.Pro427Ser Single submitter ⚠
- p.Pro455Leu Single submitter ⚠
- p.Ser451Leu Single submitter ⚠
- p.Ser558Leu Single submitter ⚠
- p.Thr219Lys Single submitter ⚠
- p.Thr219Met Single submitter ⚠
- p.Thr346Ala Single submitter ⚠
- p.Thr481Ser Single submitter ⚠
- p.Thr513Met Single submitter ⚠
- p.Tyr487Phe Single submitter ⚠
- p.Val109Leu Single submitter ⚠
- p.Val317Ala Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val43Met Single submitter gamma-glutamyl transpeptidase deficiency ⚠
- p.Val495Met Single submitter ⚠
- p.Val499Leu Single submitter ⚠
- p.Val512Ile Single submitter ⚠
- p.Val548Leu Single submitter ⚠
- p.Val6Leu Single submitter ⚠