DGAT2 — 84 ClinVar variants
All ClinVar germline DGAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
4 Conflicting · 3 Benign · 2 Benign/Likely benign · 15 Likely benign · 60 Uncertain significance
Full DGAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DGAT2 p.Glu15Val Uncertain significance Multiple submitters
- DGAT2 p.Ile313Val Uncertain significance Multiple submitters
- DGAT2 p.Ala253Val Uncertain significance Single submitter
- DGAT2 p.Ala49Thr Uncertain significance Single submitter
- DGAT2 p.Arg128Gly Uncertain significance Single submitter
- DGAT2 p.Arg259Cys Uncertain significance Single submitter
- DGAT2 p.Arg61Lys Uncertain significance Single submitter
- DGAT2 p.Asn149Ser Uncertain significance Single submitter
- DGAT2 p.Asn388Ser Uncertain significance Single submitter
- DGAT2 p.Asp323Asn Uncertain significance Single submitter
- DGAT2 p.Asp371Asn Uncertain significance Single submitter
- DGAT2 p.Glu15Lys Uncertain significance Single submitter
- DGAT2 p.Glu291Lys Uncertain significance Single submitter
- DGAT2 p.Gly240Asp Uncertain significance Single submitter
- DGAT2 p.Gly36Glu Uncertain significance Single submitter
- DGAT2 p.Ile221Val Uncertain significance Single submitter
- DGAT2 p.Ile90Val Uncertain significance Single submitter
- DGAT2 p.Leu144Pro Uncertain significance Single submitter
- DGAT2 p.Leu245Gln Uncertain significance Single submitter
- DGAT2 p.Leu319Phe Uncertain significance Single submitter
- DGAT2 p.Lys301Arg Uncertain significance Single submitter
- DGAT2 p.Lys301Glu Uncertain significance Single submitter
- DGAT2 p.Lys346Arg Uncertain significance Single submitter
- DGAT2 p.Met248Arg Uncertain significance Single submitter
- DGAT2 p.Met363Leu Uncertain significance Single submitter
- DGAT2 p.Phe199Leu Uncertain significance Single submitter
- DGAT2 p.Ser33Pro Uncertain significance Single submitter
- DGAT2 p.Trp130Arg Uncertain significance Single submitter
- DGAT2 p.Trp295Arg Uncertain significance Single submitter
- DGAT2 p.Tyr277His Uncertain significance Single submitter
- DGAT2 p.Tyr223His Uncertain significance No assertion criteria
-
DGAT2 p.Val82Ala
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease type 2A1
Predictors split 34
The independent predictors disagree with each other — read with care.
- DGAT2 p.Arg297Gln Benign/Likely benign Multiple submitters
- DGAT2 p.Gly318Ser Likely benign Multiple submitters
- DGAT2 p.Arg128Gln Uncertain significance Single submitter
- DGAT2 p.Arg134His Uncertain significance Single submitter
- DGAT2 p.Arg218Trp Uncertain significance Single submitter
- DGAT2 p.Arg257Gln Uncertain significance Single submitter
- DGAT2 p.Arg268Cys Uncertain significance Single submitter
- DGAT2 p.Arg317Gln Uncertain significance Single submitter
- DGAT2 p.Arg34Cys Likely benign Single submitter
- DGAT2 p.Asp219Asn Uncertain significance Single submitter
- DGAT2 p.Glu283Gln Uncertain significance Single submitter
- DGAT2 p.Glu386Ala Uncertain significance Single submitter
- DGAT2 p.Gly159Ala Uncertain significance Single submitter
- DGAT2 p.Gly250Asp Conflicting Single submitter
- DGAT2 p.His315Arg Uncertain significance Single submitter
- DGAT2 p.His349Tyr Uncertain significance Single submitter
- DGAT2 p.His373Asn Likely benign Single submitter
- DGAT2 p.Ile235Met Uncertain significance Single submitter
- DGAT2 p.Ile307Thr Uncertain significance Single submitter
- DGAT2 p.Ile355Met Uncertain significance Single submitter
- DGAT2 p.Leu105Phe Uncertain significance Single submitter
- DGAT2 p.Leu385Val Likely benign Single submitter
- DGAT2 p.Lys260Arg Uncertain significance Single submitter
- DGAT2 p.Lys305Arg Uncertain significance Single submitter
- DGAT2 p.Pro345Leu Conflicting Single submitter
- DGAT2 p.Pro380Gln Uncertain significance Single submitter
- DGAT2 p.Pro380Leu Uncertain significance Single submitter
- DGAT2 p.Ser246Gly Uncertain significance Single submitter
- DGAT2 p.Ser247Phe Uncertain significance Single submitter
- DGAT2 p.Ser26Phe Uncertain significance Single submitter
- DGAT2 p.Thr152Ile Uncertain significance Single submitter
- DGAT2 p.Thr335Ile Uncertain significance Single submitter
- DGAT2 p.Tyr223Ser Uncertain significance Single submitter
- DGAT2 p.Val237Met Uncertain significance Single submitter
All DGAT2 variants
Conflicting classifications of pathogenicity 4
- p.Gly250Asp Single submitter ⚠
- p.Lys118Thr Single submitter ⚠
- p.Pro345Leu Single submitter ⚠
- p.Tyr285Ter Single submitter
Benign 3
- c.809+20del Single submitter
- p.Met361Ile Single submitter
- p.Phe136= Single submitter
Benign/Likely benign 2
- p.Arg297Gln Multiple submitters ⚠
- p.Ser230= Multiple submitters
Likely benign 15
- p.Gly318Ser Multiple submitters ⚠
- c.430-19C>G Single submitter
- c.635-19C>T Single submitter
- c.809+14T>C Single submitter
- p.Arg34Cys Single submitter ⚠
- p.His373Asn Single submitter ⚠
- p.Ile355= Single submitter
- p.Leu101= Single submitter
- p.Leu319= Single submitter
- p.Leu385Val Single submitter ⚠
- p.Leu91= Single submitter
- p.Phe112Tyr Single submitter
- p.Pro380= Single submitter
- p.Thr255= Single submitter
- p.Thr57= Single submitter
Uncertain significance 60
- p.Glu15Val Multiple submitters ⚠
- p.Ile313Val Multiple submitters ⚠
- p.Ala253Val Single submitter ⚠
- p.Ala49Thr Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg268Cys Single submitter ⚠
- p.Arg297Ter Single submitter
- p.Arg317Gln Single submitter ⚠
- p.Arg61Lys Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asn388Ser Single submitter ⚠
- p.Asp219Asn Single submitter ⚠
- p.Asp323Asn Single submitter ⚠
- p.Asp371Asn Single submitter ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu283Gln Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu386Ala Single submitter ⚠
- p.Gly159Ala Single submitter ⚠
- p.Gly240Asp Single submitter ⚠
- p.Gly36Glu Single submitter ⚠
- p.His315Arg Single submitter ⚠
- p.His349Tyr Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile235Met Single submitter ⚠
- p.Ile307Thr Single submitter ⚠
- p.Ile355Met Single submitter ⚠
- p.Ile90Val Single submitter ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu144Pro Single submitter ⚠
- p.Leu245Gln Single submitter ⚠
- p.Leu319Phe Single submitter ⚠
- p.Lys260Arg Single submitter ⚠
- p.Lys301Arg Single submitter ⚠
- p.Lys301Glu Single submitter ⚠
- p.Lys305Arg Single submitter ⚠
- p.Lys346Arg Single submitter ⚠
- p.Met248Arg Single submitter ⚠
- p.Met363Leu Single submitter ⚠
- p.Phe199Leu Single submitter ⚠
- p.Pro380Gln Single submitter ⚠
- p.Pro380Leu Single submitter ⚠
- p.Ser246Gly Single submitter ⚠
- p.Ser247Phe Single submitter ⚠
- p.Ser26Phe Single submitter ⚠
- p.Ser33Pro Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr335Ile Single submitter ⚠
- p.Trp130Arg Single submitter ⚠
- p.Trp295Arg Single submitter ⚠
- p.Tyr223Ser Single submitter ⚠
- p.Tyr277His Single submitter ⚠
- p.Val237Met Single submitter ⚠
- p.Tyr223His No assertion criteria ⚠
- p.Val82Ala No assertion criteria Charcot-Marie-Tooth disease type 2A1 ⚠