ENTREP2 — 104 ClinVar variants
All ClinVar germline ENTREP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Benign · 9 Likely benign · 94 Uncertain significance
Full ENTREP2 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 lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ENTREP2 p.Gly126Ser
Uncertain significance
Multiple submitters
congenital portosystemic shunt
- ENTREP2 p.Ala13Ser Uncertain significance Single submitter
- ENTREP2 p.Ala168Ser Uncertain significance Single submitter
- ENTREP2 p.Ala196Val Uncertain significance Single submitter
- ENTREP2 p.Ala219Val Uncertain significance Single submitter
- ENTREP2 p.Ala282Thr Uncertain significance Single submitter
- ENTREP2 p.Ala349Gly Uncertain significance Single submitter
- ENTREP2 p.Ala425Thr Uncertain significance Single submitter
- ENTREP2 p.Ala452Val Uncertain significance Single submitter
- ENTREP2 p.Ala487Val Uncertain significance Single submitter
- ENTREP2 p.Ala533Thr Uncertain significance Single submitter
- ENTREP2 p.Arg21Leu Uncertain significance Single submitter
- ENTREP2 p.Arg396His Uncertain significance Single submitter
- ENTREP2 p.Arg463Gln Uncertain significance Single submitter
- ENTREP2 p.Arg463Pro Uncertain significance Single submitter
- ENTREP2 p.Arg516Cys Uncertain significance Single submitter
- ENTREP2 p.Arg516Leu Uncertain significance Single submitter
- ENTREP2 p.Arg524His Uncertain significance Single submitter
- ENTREP2 p.Asn107Ser Uncertain significance Single submitter
- ENTREP2 p.Asp269Gly Uncertain significance Single submitter
- ENTREP2 p.Asp324Asn Uncertain significance Single submitter
- ENTREP2 p.Asp358Asn Uncertain significance Single submitter
- ENTREP2 p.Cys256Ser Uncertain significance Single submitter
- ENTREP2 p.Cys502Tyr Uncertain significance Single submitter
- ENTREP2 p.Gln462His Uncertain significance Single submitter
- ENTREP2 p.Glu239Lys Uncertain significance Single submitter
- ENTREP2 p.Glu379Gln Uncertain significance Single submitter
- ENTREP2 p.Gly149Ser Uncertain significance Single submitter
- ENTREP2 p.Gly265Ser Uncertain significance Single submitter
- ENTREP2 p.Gly287Ser Uncertain significance Single submitter
- ENTREP2 p.Gly323Arg Uncertain significance Single submitter
- ENTREP2 p.Gly352Ala Uncertain significance Single submitter
- ENTREP2 p.Gly382Ala Uncertain significance Single submitter
- ENTREP2 p.Gly392Arg Uncertain significance Single submitter
- ENTREP2 p.Gly453Glu Uncertain significance Single submitter
- ENTREP2 p.His145Arg Uncertain significance Single submitter
- ENTREP2 p.His227Gln Uncertain significance Single submitter
- ENTREP2 p.Ile189Val Uncertain significance Single submitter
- ENTREP2 p.Ile80Val Uncertain significance Single submitter
- ENTREP2 p.Leu231Phe Uncertain significance Single submitter
- ENTREP2 p.Leu480Ser Uncertain significance Single submitter
- ENTREP2 p.Lys495Arg Uncertain significance Single submitter
- ENTREP2 p.Pro12Ala Uncertain significance Single submitter
- ENTREP2 p.Pro213Leu Uncertain significance Single submitter
- ENTREP2 p.Pro243Arg Uncertain significance Single submitter
- ENTREP2 p.Pro243Gln Uncertain significance Single submitter
- ENTREP2 p.Pro252Ala Uncertain significance Single submitter
- ENTREP2 p.Pro252Gln Uncertain significance Single submitter
- ENTREP2 p.Pro272Leu Uncertain significance Single submitter
- ENTREP2 p.Pro296Thr Uncertain significance Single submitter
- ENTREP2 p.Pro305Ser Uncertain significance Single submitter
- ENTREP2 p.Pro373Ser Uncertain significance Single submitter
- ENTREP2 p.Pro417Leu Uncertain significance Single submitter
- ENTREP2 p.Pro464Arg Uncertain significance Single submitter
- ENTREP2 p.Pro464Ser Uncertain significance Single submitter
- ENTREP2 p.Ser179Ile Uncertain significance Single submitter
- ENTREP2 p.Ser434Arg Uncertain significance Single submitter
- ENTREP2 p.Thr277Pro Uncertain significance Single submitter
- ENTREP2 p.Thr520Ser Uncertain significance Single submitter
- ENTREP2 p.Trp458Arg Uncertain significance Single submitter
- ENTREP2 p.Val190Met Uncertain significance Single submitter
- ENTREP2 p.Val203Ile Uncertain significance Single submitter
- ENTREP2 p.Val281Met Uncertain significance Single submitter
- ENTREP2 p.Val493Leu Uncertain significance Single submitter
-
ENTREP2 p.Val83Ile
Uncertain significance
Single submitter
congenital portosystemic shunt
Predictors split 30
The independent predictors disagree with each other — read with care.
- ENTREP2 p.Ala494Val Uncertain significance Single submitter
- ENTREP2 p.Ala9Val Uncertain significance Single submitter
- ENTREP2 p.Arg23Ser Uncertain significance Single submitter
- ENTREP2 p.Arg416Met Uncertain significance Single submitter
- ENTREP2 p.Arg446Trp Uncertain significance Single submitter
- ENTREP2 p.Arg463Trp Uncertain significance Single submitter
- ENTREP2 p.Asp206Asn Uncertain significance Single submitter
- ENTREP2 p.Asp454Tyr Uncertain significance Single submitter
- ENTREP2 p.Cys115Tyr Uncertain significance Single submitter
- ENTREP2 p.Glu319Lys Uncertain significance Single submitter
- ENTREP2 p.Glu346Lys Uncertain significance Single submitter
- ENTREP2 p.Gly154Arg Uncertain significance Single submitter
- ENTREP2 p.Gly154Glu Uncertain significance Single submitter
- ENTREP2 p.Gly426Glu Uncertain significance Single submitter
- ENTREP2 p.Gly453Trp Uncertain significance Single submitter
- ENTREP2 p.Leu45Phe Uncertain significance Single submitter
- ENTREP2 p.Met200Ile Uncertain significance Single submitter
- ENTREP2 p.Pro10Leu Uncertain significance Single submitter
- ENTREP2 p.Pro161Leu Uncertain significance Single submitter
- ENTREP2 p.Pro245Ala Uncertain significance Single submitter
- ENTREP2 p.Pro272Gln Uncertain significance Single submitter
- ENTREP2 p.Pro296Ala Uncertain significance Single submitter
- ENTREP2 p.Pro297Leu Uncertain significance Single submitter
- ENTREP2 p.Ser134Ile Uncertain significance Single submitter
- ENTREP2 p.Ser312Arg Likely benign Single submitter
- ENTREP2 p.Ser418Trp Uncertain significance Single submitter
- ENTREP2 p.Thr402Pro Uncertain significance Single submitter
- ENTREP2 p.Thr442Met Uncertain significance Single submitter
- ENTREP2 p.Thr58Asn Uncertain significance Single submitter
- ENTREP2 p.Val62Phe Uncertain significance Single submitter
All ENTREP2 variants
Benign 1
- p.His375Arg Single submitter
Likely benign 9
- p.Ala363Thr Single submitter
- p.Ala435Val Single submitter
- p.Asn122Ser Single submitter
- p.Gly276Ser Single submitter
- p.Met515Val Single submitter
- p.Pro369Ser Single submitter
- p.Ser312Arg Single submitter ⚠
- p.Ser367= Single submitter
- p.Val539Leu Single submitter
Uncertain significance 94
- p.Gly126Ser Multiple submitters congenital portosystemic shunt ⚠
- p.Ala13Ser Single submitter ⚠
- p.Ala168Ser Single submitter ⚠
- p.Ala196Val Single submitter ⚠
- p.Ala219Val Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Ala349Gly Single submitter ⚠
- p.Ala425Thr Single submitter ⚠
- p.Ala452Val Single submitter ⚠
- p.Ala487Val Single submitter ⚠
- p.Ala494Val Single submitter ⚠
- p.Ala533Thr Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg21Leu Single submitter ⚠
- p.Arg23Ser Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg416Met Single submitter ⚠
- p.Arg446Trp Single submitter ⚠
- p.Arg463Gln Single submitter ⚠
- p.Arg463Pro Single submitter ⚠
- p.Arg463Trp Single submitter ⚠
- p.Arg516Cys Single submitter ⚠
- p.Arg516Leu Single submitter ⚠
- p.Arg524His Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp269Gly Single submitter ⚠
- p.Asp324Asn Single submitter ⚠
- p.Asp358Asn Single submitter ⚠
- p.Asp454Tyr Single submitter ⚠
- p.Cys115Tyr Single submitter ⚠
- p.Cys256Ser Single submitter ⚠
- p.Cys502Tyr Single submitter ⚠
- p.Gln462His Single submitter ⚠
- p.Glu239Lys Single submitter ⚠
- p.Glu319Lys Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu379Gln Single submitter ⚠
- p.Gly149Ser Single submitter ⚠
- p.Gly154Arg Single submitter ⚠
- p.Gly154Glu Single submitter ⚠
- p.Gly265Ser Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly323Arg Single submitter ⚠
- p.Gly352Ala Single submitter ⚠
- p.Gly382Ala Single submitter ⚠
- p.Gly392Arg Single submitter ⚠
- p.Gly426Glu Single submitter ⚠
- p.Gly453Glu Single submitter ⚠
- p.Gly453Trp Single submitter ⚠
- p.His145Arg Single submitter ⚠
- p.His227Gln Single submitter ⚠
- p.Ile189Val Single submitter ⚠
- p.Ile80Val Single submitter ⚠
- p.Leu231Phe Single submitter ⚠
- p.Leu45Phe Single submitter ⚠
- p.Leu480Ser Single submitter ⚠
- p.Lys495Arg Single submitter ⚠
- p.Met200Ile Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro12Ala Single submitter ⚠
- p.Pro161Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro243Arg Single submitter ⚠
- p.Pro243Gln Single submitter ⚠
- p.Pro245Ala Single submitter ⚠
- p.Pro252Ala Single submitter ⚠
- p.Pro252Gln Single submitter ⚠
- p.Pro272Gln Single submitter ⚠
- p.Pro272Leu Single submitter ⚠
- p.Pro296Ala Single submitter ⚠
- p.Pro296Thr Single submitter ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro305Ser Single submitter ⚠
- p.Pro373Ser Single submitter ⚠
- p.Pro417Leu Single submitter ⚠
- p.Pro464Arg Single submitter ⚠
- p.Pro464Ser Single submitter ⚠
- p.Ser134Ile Single submitter ⚠
- p.Ser179Ile Single submitter ⚠
- p.Ser418Trp Single submitter ⚠
- p.Ser434Arg Single submitter ⚠
- p.Thr277Pro Single submitter ⚠
- p.Thr402Pro Single submitter ⚠
- p.Thr442Met Single submitter ⚠
- p.Thr520Ser Single submitter ⚠
- p.Thr58Asn Single submitter ⚠
- p.Trp458Arg Single submitter ⚠
- p.Val190Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val493Leu Single submitter ⚠
- p.Val62Phe Single submitter ⚠
- p.Val83Ile Single submitter congenital portosystemic shunt ⚠