ANGPT2 — 102 ClinVar variants
All ClinVar germline ANGPT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
2 Pathogenic · 2 Conflicting · 9 Benign · 2 Benign/Likely benign · 11 Likely benign · 76 Uncertain significance
Full ANGPT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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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ANGPT2 p.Thr298Met
Pathogenic
No assertion criteria
lymphatic malformation 10
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANGPT2 p.Ile227Thr Uncertain significance Multiple submitters
- ANGPT2 p.Ala122Thr Uncertain significance Single submitter
- ANGPT2 p.Ala64Gly Uncertain significance Single submitter
- ANGPT2 p.Ala69Val Uncertain significance Single submitter
- ANGPT2 p.Arg23Pro Uncertain significance Single submitter
- ANGPT2 p.Arg367His Uncertain significance Single submitter
-
ANGPT2 p.Arg54Cys
Uncertain significance
Single submitter
lymphatic malformation 10
- ANGPT2 p.Arg54Gly Uncertain significance Single submitter
- ANGPT2 p.Arg54Leu Uncertain significance Single submitter
- ANGPT2 p.Asn294Asp Uncertain significance Single submitter
- ANGPT2 p.Asn52Lys Uncertain significance Single submitter
- ANGPT2 p.Asp12Val Uncertain significance Single submitter
- ANGPT2 p.Asp176Asn Uncertain significance Single submitter
- ANGPT2 p.Asp186His Uncertain significance Single submitter
- ANGPT2 p.Asp313Asn Uncertain significance Single submitter
- ANGPT2 p.Asp329Asn Uncertain significance Single submitter
- ANGPT2 p.Asp74Glu Uncertain significance Single submitter
- ANGPT2 p.Gln185Glu Uncertain significance Single submitter
- ANGPT2 p.Gln277Lys Uncertain significance Single submitter
- ANGPT2 p.Gln463His Uncertain significance Single submitter
- ANGPT2 p.Glu108Gln Uncertain significance Single submitter
- ANGPT2 p.Glu111Lys Uncertain significance Single submitter
- ANGPT2 p.Glu157Gln Uncertain significance Single submitter
- ANGPT2 p.Glu276Gly Uncertain significance Single submitter
- ANGPT2 p.Glu285Asp Uncertain significance Single submitter
- ANGPT2 p.Glu328Lys Uncertain significance Single submitter
-
ANGPT2 p.Gly320Arg
Uncertain significance
Single submitter
lymphatic malformation 10
- ANGPT2 p.Gly320Glu Uncertain significance Single submitter
- ANGPT2 p.His249Gln Uncertain significance Single submitter
- ANGPT2 p.His291Tyr Uncertain significance Single submitter
- ANGPT2 p.Ile125Thr Uncertain significance Single submitter
- ANGPT2 p.Ile227Val Uncertain significance Single submitter
- ANGPT2 p.Ile234Thr Uncertain significance Single submitter
- ANGPT2 p.Ile86Phe Uncertain significance Single submitter
- ANGPT2 p.Leu158His Uncertain significance Single submitter
- ANGPT2 p.Leu158Ile Uncertain significance Single submitter
- ANGPT2 p.Leu71Pro Uncertain significance Single submitter
- ANGPT2 p.Leu80Val Uncertain significance Single submitter
- ANGPT2 p.Lys187Arg Uncertain significance Single submitter
- ANGPT2 p.Lys201Arg Uncertain significance Single submitter
- ANGPT2 p.Lys210Asn Uncertain significance Single submitter
- ANGPT2 p.Lys309Gln Uncertain significance Single submitter
- ANGPT2 p.Lys339Glu Uncertain significance Single submitter
- ANGPT2 p.Met252Ile Uncertain significance Single submitter
- ANGPT2 p.Met262Thr Uncertain significance Single submitter
- ANGPT2 p.Met489Leu Uncertain significance Single submitter
- ANGPT2 p.Ser10Asn Uncertain significance Single submitter
- ANGPT2 p.Ser40Tyr Uncertain significance Single submitter
- ANGPT2 p.Ser42Asn Uncertain significance Single submitter
- ANGPT2 p.Ser55Pro Uncertain significance Single submitter
- ANGPT2 p.Thr121Met Uncertain significance Single submitter
- ANGPT2 p.Thr143Ala Uncertain significance Single submitter
- ANGPT2 p.Thr154Met Uncertain significance Single submitter
- ANGPT2 p.Thr238Met Uncertain significance Single submitter
- ANGPT2 p.Thr264Ile Uncertain significance Single submitter
- ANGPT2 p.Thr293Ala Uncertain significance Single submitter
- ANGPT2 p.Thr298Arg Uncertain significance Single submitter
- ANGPT2 p.Thr486Ser Uncertain significance Single submitter
- ANGPT2 p.Val195Ala Uncertain significance Single submitter
- ANGPT2 p.Val220Ala Uncertain significance Single submitter
- ANGPT2 p.Val243Leu Uncertain significance Single submitter
- ANGPT2 p.Val286Ile Uncertain significance Single submitter
- ANGPT2 p.Val369Met Uncertain significance Single submitter
- ANGPT2 p.Val61Gly Uncertain significance Single submitter
- ANGPT2 p.Val61Leu Uncertain significance Single submitter
- ANGPT2 p.Val61Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ANGPT2 p.Arg367Cys Uncertain significance Single submitter
- ANGPT2 p.Asn397Ser Uncertain significance Single submitter
- ANGPT2 p.Glu98Lys Uncertain significance Single submitter
- ANGPT2 p.Gly318Arg Uncertain significance Single submitter
- ANGPT2 p.Gly478Arg Uncertain significance Single submitter
- ANGPT2 p.Ile296Met Uncertain significance Single submitter
- ANGPT2 p.Phe287Leu Uncertain significance Single submitter
- ANGPT2 p.Thr293Pro Uncertain significance Single submitter
- ANGPT2 p.Tyr475His Uncertain significance Single submitter
-
ANGPT2 p.Cys434Ser
Pathogenic
No assertion criteria
lymphatic malformation 10
All ANGPT2 variants
Pathogenic 2
- p.Cys434Ser No assertion criteria lymphatic malformation 10 ⚠
- p.Thr298Met No assertion criteria lymphatic malformation 10 ⚠
Conflicting classifications of pathogenicity 2
- p.Glu387Ala Single submitter ⚠
- p.Thr293Met Single submitter ⚠
Benign 9
- c.566+9A>C Multiple submitters
- p.Ala310Val Multiple submitters
- p.Leu402= Multiple submitters
- p.Lys32= Multiple submitters
- p.Thr154= Multiple submitters
- p.Leu385Phe Single submitter
- p.Ser164= Single submitter
- p.Thr260Ser Single submitter
- p.Val235Ala Single submitter
Benign/Likely benign 2
- p.Asp269His Multiple submitters
- p.Val332Ile Multiple submitters
Likely benign 11
- p.Asn257Ile Single submitter
- p.Asn294= Single submitter
- p.Gln461= Single submitter
- p.Leu362= Single submitter
- p.Leu362Val Single submitter
- p.Ser166= Single submitter
- p.Ser360= Single submitter
- p.Thr238= Single submitter
- p.Thr465Arg Single submitter
- p.Leu47= No assertion criteria ANGPT2-related disorder
- p.Tyr100= No assertion criteria ANGPT2-related disorder
Uncertain significance 76
- p.Ile227Thr Multiple submitters ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala64Gly Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Arg23Pro Single submitter ⚠
- p.Arg367Cys Single submitter ⚠
- p.Arg367His Single submitter ⚠
- p.Arg54Cys Single submitter lymphatic malformation 10 ⚠
- p.Arg54Gly Single submitter ⚠
- p.Arg54Leu Single submitter ⚠
- p.Asn294Asp Single submitter ⚠
- p.Asn397Ser Single submitter ⚠
- p.Asn52Lys Single submitter ⚠
- p.Asp12Val Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp186His Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp74Glu Single submitter ⚠
- p.Gln113Leu Single submitter
- p.Gln185Glu Single submitter ⚠
- p.Gln277Lys Single submitter ⚠
- p.Gln463His Single submitter ⚠
- p.Glu108Gln Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu157Gln Single submitter ⚠
- p.Glu276Gly Single submitter ⚠
- p.Glu285Asp Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.Gly320Arg Single submitter lymphatic malformation 10 ⚠
- p.Gly320Glu Single submitter ⚠
- p.Gly478Arg Single submitter ⚠
- p.His249Gln Single submitter ⚠
- p.His291Tyr Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Ile227Val Single submitter ⚠
- p.Ile234Thr Single submitter ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile86Phe Single submitter ⚠
- p.Leu158His Single submitter ⚠
- p.Leu158Ile Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys201Arg Single submitter ⚠
- p.Lys210Asn Single submitter ⚠
- p.Lys309Gln Single submitter ⚠
- p.Lys339Glu Single submitter ⚠
- p.Met252Ile Single submitter ⚠
- p.Met262Thr Single submitter ⚠
- p.Met489Leu Single submitter ⚠
- p.Phe287Leu Single submitter ⚠
- p.Ser10Asn Single submitter ⚠
- p.Ser40Tyr Single submitter ⚠
- p.Ser42Asn Single submitter ⚠
- p.Ser55Pro Single submitter ⚠
- p.Thr121Met Single submitter ⚠
- p.Thr143Ala Single submitter ⚠
- p.Thr154Met Single submitter ⚠
- p.Thr238Met Single submitter ⚠
- p.Thr264Ile Single submitter ⚠
- p.Thr293Ala Single submitter ⚠
- p.Thr293Pro Single submitter ⚠
- p.Thr298Arg Single submitter ⚠
- p.Thr486Ser Single submitter ⚠
- p.Tyr475His Single submitter ⚠
- p.Val195Ala Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val243Leu Single submitter ⚠
- p.Val286Ile Single submitter ⚠
- p.Val369Met Single submitter ⚠
- p.Val61Gly Single submitter ⚠
- p.Val61Leu Single submitter ⚠
- p.Val61Met Single submitter ⚠