GART — 108 ClinVar variants
All ClinVar germline GART variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Likely pathogenic · 5 Likely benign · 102 Uncertain significance
Full GART 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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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GART p.Leu636Arg
Likely pathogenic
No assertion criteria
esophageal atresia/tracheoesophageal fistula
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GART p.Ala122Thr Uncertain significance Single submitter
- GART p.Ala133Val Uncertain significance Single submitter
- GART p.Ala550Thr Uncertain significance Single submitter
- GART p.Ala550Val Uncertain significance Single submitter
- GART p.Ala589Val Uncertain significance Single submitter
- GART p.Ala728Pro Uncertain significance Single submitter
- GART p.Ala846Thr Uncertain significance Single submitter
- GART p.Ala970Pro Uncertain significance Single submitter
- GART p.Ala970Thr Uncertain significance Single submitter
- GART p.Ala986Glu Uncertain significance Single submitter
- GART p.Ala986Thr Uncertain significance Single submitter
- GART p.Ala986Val Uncertain significance Single submitter
- GART p.Arg13Thr Uncertain significance Single submitter
- GART p.Arg671His Uncertain significance Single submitter
- GART p.Arg769Gln Uncertain significance Single submitter
- GART p.Arg775Cys Uncertain significance Single submitter
- GART p.Arg861Lys Uncertain significance Single submitter
- GART p.Asn331Lys Uncertain significance Single submitter
- GART p.Asn507Ser Uncertain significance Single submitter
- GART p.Asn832Asp Uncertain significance Single submitter
- GART p.Asn926Asp Uncertain significance Single submitter
- GART p.Asp469Gly Uncertain significance Single submitter
- GART p.Asp469Val Uncertain significance Single submitter
- GART p.Asp838Gly Uncertain significance Single submitter
- GART p.Gln172Lys Uncertain significance Single submitter
- GART p.Gln314His Uncertain significance Single submitter
- GART p.Glu197Lys Uncertain significance Single submitter
- GART p.Glu394Gln Uncertain significance Single submitter
- GART p.Glu394Lys Uncertain significance Single submitter
- GART p.Glu439Lys Uncertain significance Single submitter
- GART p.Gly11Glu Uncertain significance Single submitter
- GART p.Gly157Arg Uncertain significance Single submitter
- GART p.Gly227Ser Uncertain significance Single submitter
- GART p.Gly231Glu Uncertain significance Single submitter
- GART p.Gly465Asp Uncertain significance Single submitter
- GART p.Gly554Val Uncertain significance Single submitter
- GART p.Gly623Arg Uncertain significance Single submitter
- GART p.Gly699Val Uncertain significance Single submitter
- GART p.Gly789Arg Uncertain significance Single submitter
- GART p.Gly795Ser Uncertain significance Single submitter
- GART p.His25Asp Uncertain significance Single submitter
- GART p.His25Tyr Uncertain significance Single submitter
- GART p.Ile354Val Uncertain significance Single submitter
- GART p.Ile392Val Uncertain significance Single submitter
- GART p.Ile45Phe Uncertain significance Single submitter
- GART p.Ile782Thr Uncertain significance Single submitter
- GART p.Ile889Val Uncertain significance Single submitter
- GART p.Leu824Phe Uncertain significance Single submitter
- GART p.Lys125Gln Uncertain significance Single submitter
- GART p.Lys342Glu Uncertain significance Single submitter
- GART p.Lys438Glu Uncertain significance Single submitter
- GART p.Lys508Thr Uncertain significance Single submitter
- GART p.Lys743Glu Uncertain significance Single submitter
- GART p.Lys806Arg Uncertain significance Single submitter
- GART p.Met449Arg Uncertain significance Single submitter
- GART p.Met577Val Uncertain significance Single submitter
- GART p.Met785Arg Uncertain significance Single submitter
- GART p.Met911Leu Uncertain significance Single submitter
- GART p.Phe477Ser Uncertain significance Single submitter
- GART p.Ser135Asn Uncertain significance Single submitter
- GART p.Ser199Leu Uncertain significance Single submitter
- GART p.Ser639Ala Uncertain significance Single submitter
- GART p.Ser790Pro Uncertain significance Single submitter
- GART p.Thr128Ser Uncertain significance Single submitter
- GART p.Thr511Asn Uncertain significance Single submitter
- GART p.Thr798Ile Uncertain significance Single submitter
- GART p.Thr817Ile Uncertain significance Single submitter
- GART p.Thr968Pro Uncertain significance Single submitter
- GART p.Tyr417Phe Uncertain significance Single submitter
- GART p.Val1007Ala Uncertain significance Single submitter
- GART p.Val590Ile Uncertain significance Single submitter
- GART p.Val610Asp Uncertain significance Single submitter
- GART p.Val631Met Uncertain significance Single submitter
- GART p.Val791Met Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- GART p.Ala154Ser Uncertain significance Single submitter
- GART p.Arg671Cys Uncertain significance Single submitter
- GART p.Arg861Thr Uncertain significance Single submitter
- GART p.Asp826His Uncertain significance Single submitter
- GART p.Glu223Lys Uncertain significance Single submitter
- GART p.Gly422Ser Uncertain significance Single submitter
- GART p.Ile614Thr Uncertain significance Single submitter
- GART p.Leu247Ser Uncertain significance Single submitter
- GART p.Leu655Phe Uncertain significance Single submitter
- GART p.Met278Ile Uncertain significance Single submitter
- GART p.Phe127Leu Uncertain significance Single submitter
- GART p.Phe945Leu Uncertain significance Single submitter
- GART p.Phe984Leu Uncertain significance Single submitter
- GART p.Pro580Arg Uncertain significance Single submitter
- GART p.Pro580His Uncertain significance Single submitter
- GART p.Pro643Ser Uncertain significance Single submitter
- GART p.Ser341Thr Uncertain significance Single submitter
- GART p.Thr657Met Uncertain significance Single submitter
- GART p.Val147Leu Uncertain significance Single submitter
- GART p.Val552Leu Uncertain significance Single submitter
All GART variants
Likely pathogenic 1
- p.Leu636Arg No assertion criteria esophageal atresia/tracheoesophageal fistula ⚠
Likely benign 5
- p.Arg393Gln Single submitter
- p.Arg711Lys Single submitter
- p.Ile416Val Single submitter
- p.Leu138Met Single submitter
- p.Met449Thr Single submitter
Uncertain significance 102
- p.Ala122Thr Single submitter ⚠
- p.Ala133Val Single submitter ⚠
- p.Ala154Ser Single submitter ⚠
- p.Ala550Thr Single submitter ⚠
- p.Ala550Val Single submitter ⚠
- p.Ala589Val Single submitter ⚠
- p.Ala728Pro Single submitter ⚠
- p.Ala846Thr Single submitter ⚠
- p.Ala970Pro Single submitter ⚠
- p.Ala970Thr Single submitter ⚠
- p.Ala986Glu Single submitter ⚠
- p.Ala986Thr Single submitter ⚠
- p.Ala986Val Single submitter ⚠
- p.Arg13Thr Single submitter ⚠
- p.Arg671Cys Single submitter ⚠
- p.Arg671His Single submitter ⚠
- p.Arg769Gln Single submitter ⚠
- p.Arg775Cys Single submitter ⚠
- p.Arg861Lys Single submitter ⚠
- p.Arg861Thr Single submitter ⚠
- p.Asn331Lys Single submitter ⚠
- p.Asn507Ser Single submitter ⚠
- p.Asn832Asp Single submitter ⚠
- p.Asn926Asp Single submitter ⚠
- p.Asp469Gly Single submitter ⚠
- p.Asp469Val Single submitter ⚠
- p.Asp826His Single submitter ⚠
- p.Asp838Gly Single submitter ⚠
- p.Cys168Tyr Single submitter
- p.Gln172Lys Single submitter ⚠
- p.Gln314His Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu394Gln Single submitter ⚠
- p.Glu394Lys Single submitter ⚠
- p.Glu439Lys Single submitter ⚠
- p.Gly11Glu Single submitter ⚠
- p.Gly157Arg Single submitter ⚠
- p.Gly227Ser Single submitter ⚠
- p.Gly231Glu Single submitter ⚠
- p.Gly261Arg Single submitter
- p.Gly422Ser Single submitter ⚠
- p.Gly465Asp Single submitter ⚠
- p.Gly554Val Single submitter ⚠
- p.Gly623Arg Single submitter ⚠
- p.Gly699Val Single submitter ⚠
- p.Gly789Arg Single submitter ⚠
- p.Gly795Ser Single submitter ⚠
- p.His25Asp Single submitter ⚠
- p.His25Tyr Single submitter ⚠
- p.Ile354Val Single submitter ⚠
- p.Ile392Val Single submitter ⚠
- p.Ile444Thr Single submitter
- p.Ile45Phe Single submitter ⚠
- p.Ile555Thr Single submitter
- p.Ile614Thr Single submitter ⚠
- p.Ile782Thr Single submitter ⚠
- p.Ile889Val Single submitter ⚠
- p.Leu247Ser Single submitter ⚠
- p.Leu287Val Single submitter
- p.Leu655Phe Single submitter ⚠
- p.Leu824Phe Single submitter ⚠
- p.Lys125Gln Single submitter ⚠
- p.Lys342Glu Single submitter ⚠
- p.Lys438Glu Single submitter ⚠
- p.Lys508Thr Single submitter ⚠
- p.Lys743Glu Single submitter ⚠
- p.Lys806Arg Single submitter ⚠
- p.Met278Ile Single submitter ⚠
- p.Met449Arg Single submitter ⚠
- p.Met577Val Single submitter ⚠
- p.Met785Arg Single submitter ⚠
- p.Met911Leu Single submitter ⚠
- p.Phe127Leu Single submitter ⚠
- p.Phe477Ser Single submitter ⚠
- p.Phe945Leu Single submitter ⚠
- p.Phe984Leu Single submitter ⚠
- p.Pro580Arg Single submitter ⚠
- p.Pro580His Single submitter ⚠
- p.Pro643Ser Single submitter ⚠
- p.Ser135Asn Single submitter ⚠
- p.Ser199Leu Single submitter ⚠
- p.Ser341Thr Single submitter ⚠
- p.Ser639Ala Single submitter ⚠
- p.Ser790Pro Single submitter ⚠
- p.Thr128Ser Single submitter ⚠
- p.Thr381Asn Single submitter
- p.Thr511Asn Single submitter ⚠
- p.Thr657Met Single submitter ⚠
- p.Thr798Ile Single submitter ⚠
- p.Thr817Ile Single submitter ⚠
- p.Thr968Pro Single submitter ⚠
- p.Tyr417Phe Single submitter ⚠
- p.Val1007Ala Single submitter ⚠
- p.Val147Leu Single submitter ⚠
- p.Val30Leu Single submitter
- p.Val552Leu Single submitter ⚠
- p.Val590Ile Single submitter ⚠
- p.Val610Asp Single submitter ⚠
- p.Val631Met Single submitter ⚠
- p.Val675Ala Single submitter
- p.Val791Met Single submitter ⚠