ENTPD2 — 104 ClinVar variants
All ClinVar germline ENTPD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
1 Likely pathogenic · 4 Benign · 7 Likely benign · 92 Uncertain significance
Full ENTPD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENTPD2 p.Ala113Thr Uncertain significance Single submitter
- ENTPD2 p.Ala16Gly Uncertain significance Single submitter
- ENTPD2 p.Ala17Thr Uncertain significance Single submitter
- ENTPD2 p.Ala20Ser Uncertain significance Single submitter
- ENTPD2 p.Ala20Thr Uncertain significance Single submitter
- ENTPD2 p.Ala256Thr Uncertain significance Single submitter
- ENTPD2 p.Ala393Ser Uncertain significance Single submitter
- ENTPD2 p.Ala477Thr Uncertain significance Single submitter
-
ENTPD2 p.Arg158Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ENTPD2 p.Arg188Gln Uncertain significance Single submitter
- ENTPD2 p.Arg188Leu Uncertain significance Single submitter
- ENTPD2 p.Arg311Gln Uncertain significance Single submitter
- ENTPD2 p.Arg392Pro Uncertain significance Single submitter
- ENTPD2 p.Asp65Asn Uncertain significance Single submitter
- ENTPD2 p.Gln102Arg Uncertain significance Single submitter
- ENTPD2 p.Gly244Asp Uncertain significance Single submitter
- ENTPD2 p.Gly412Arg Uncertain significance Single submitter
- ENTPD2 p.Gly421Arg Uncertain significance Single submitter
- ENTPD2 p.Gly422Ala Uncertain significance Single submitter
- ENTPD2 p.Gly422Ser Uncertain significance Single submitter
- ENTPD2 p.Gly439Arg Uncertain significance Single submitter
- ENTPD2 p.Ile209Asn Uncertain significance Single submitter
- ENTPD2 p.Ile42Leu Uncertain significance Single submitter
- ENTPD2 p.Ile448Val Uncertain significance Single submitter
- ENTPD2 p.Leu19Val Uncertain significance Single submitter
- ENTPD2 p.Leu409Pro Uncertain significance Single submitter
- ENTPD2 p.Leu442Pro Uncertain significance Single submitter
- ENTPD2 p.Leu482Val Uncertain significance Single submitter
- ENTPD2 p.Lys4Glu Uncertain significance Single submitter
- ENTPD2 p.Phe348Ser Uncertain significance Single submitter
- ENTPD2 p.Phe348Val Uncertain significance Single submitter
- ENTPD2 p.Pro324Ser Uncertain significance Single submitter
- ENTPD2 p.Pro452Leu Uncertain significance Single submitter
- ENTPD2 p.Pro453Leu Uncertain significance Single submitter
- ENTPD2 p.Pro78Ala Uncertain significance Single submitter
- ENTPD2 p.Ser215Thr Uncertain significance Single submitter
- ENTPD2 p.Ser83Cys Uncertain significance Single submitter
- ENTPD2 p.Thr259Ala Uncertain significance Single submitter
- ENTPD2 p.Thr285Ile Uncertain significance Single submitter
- ENTPD2 p.Thr29Ala Uncertain significance Single submitter
- ENTPD2 p.Thr51Met Uncertain significance Single submitter
- ENTPD2 p.Tyr236Cys Uncertain significance Single submitter
- ENTPD2 p.Val107Ala Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- ENTPD2 p.Ala113Val Uncertain significance Single submitter
- ENTPD2 p.Ala199Ser Uncertain significance Single submitter
- ENTPD2 p.Ala344Val Uncertain significance Single submitter
- ENTPD2 p.Ala386Val Uncertain significance Single submitter
- ENTPD2 p.Ala437Val Uncertain significance Single submitter
- ENTPD2 p.Arg126His Uncertain significance Single submitter
- ENTPD2 p.Arg158His Likely benign Single submitter
- ENTPD2 p.Arg234Pro Uncertain significance Single submitter
- ENTPD2 p.Arg245His Uncertain significance Single submitter
- ENTPD2 p.Arg251Gly Uncertain significance Single submitter
- ENTPD2 p.Arg251Met Uncertain significance Single submitter
- ENTPD2 p.Arg289Trp Uncertain significance Single submitter
- ENTPD2 p.Arg298Gly Uncertain significance Single submitter
- ENTPD2 p.Arg356Trp Uncertain significance Single submitter
- ENTPD2 p.Arg392Trp Uncertain significance Single submitter
- ENTPD2 p.Arg456Cys Uncertain significance Single submitter
- ENTPD2 p.Gln94His Uncertain significance Single submitter
- ENTPD2 p.Glu218Lys Uncertain significance Single submitter
- ENTPD2 p.Glu223Lys Uncertain significance Single submitter
- ENTPD2 p.Glu370Lys Uncertain significance Single submitter
- ENTPD2 p.Glu417Ala Uncertain significance Single submitter
- ENTPD2 p.Gly124Ser Uncertain significance Single submitter
- ENTPD2 p.Gly156Val Uncertain significance Single submitter
- ENTPD2 p.Gly230Ser Uncertain significance Single submitter
- ENTPD2 p.Gly303Arg Uncertain significance Single submitter
- ENTPD2 p.Gly360Arg Uncertain significance Single submitter
- ENTPD2 p.Gly401Arg Uncertain significance Single submitter
- ENTPD2 p.Gly414Asp Uncertain significance Single submitter
- ENTPD2 p.Gly91Ala Uncertain significance Single submitter
- ENTPD2 p.His145Tyr Uncertain significance Single submitter
- ENTPD2 p.Leu14Pro Uncertain significance Single submitter
- ENTPD2 p.Leu241Pro Uncertain significance Single submitter
- ENTPD2 p.Leu317Ile Uncertain significance Single submitter
- ENTPD2 p.Leu482Arg Uncertain significance Single submitter
- ENTPD2 p.Met441Leu Uncertain significance Single submitter
- ENTPD2 p.Phe415Leu Uncertain significance Single submitter
- ENTPD2 p.Pro267Leu Uncertain significance Single submitter
- ENTPD2 p.Pro59Leu Uncertain significance Single submitter
- ENTPD2 p.Ser136Leu Uncertain significance Single submitter
- ENTPD2 p.Ser161Leu Uncertain significance Single submitter
- ENTPD2 p.Ser321Phe Uncertain significance Single submitter
- ENTPD2 p.Ser95Cys Uncertain significance Single submitter
- ENTPD2 p.Ser95Thr Uncertain significance Single submitter
- ENTPD2 p.Thr351Ala Uncertain significance Single submitter
- ENTPD2 p.Trp266Arg Uncertain significance Single submitter
- ENTPD2 p.Tyr118His Uncertain significance Single submitter
- ENTPD2 p.Tyr350Cys Uncertain significance Single submitter
- ENTPD2 p.Tyr40Phe Uncertain significance Single submitter
- ENTPD2 p.Val363Met Uncertain significance Single submitter
- ENTPD2 p.Val376Ala Uncertain significance Single submitter
- ENTPD2 p.Val480Ile Benign Single submitter
All ENTPD2 variants
Likely pathogenic 1
- p.Gln391fs Single submitter Susceptibility to severe COVID-19
Benign 4
- p.Arg193Gln Multiple submitters
- p.Val343= Multiple submitters
- p.His238= Single submitter
- p.Val480Ile Single submitter ⚠
Likely benign 7
- c.1284+5G>A Single submitter
- p.Ala430Gly Single submitter
- p.Arg158His Single submitter ⚠
- p.Glu178Lys Single submitter
- p.Pro11= Single submitter
- p.Thr214Ala Single submitter
- p.Val405= Single submitter
Uncertain significance 92
- p.Ala113Thr Single submitter ⚠
- p.Ala113Val Single submitter ⚠
- p.Ala16Gly Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala199Ser Single submitter ⚠
- p.Ala20Ser Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala344Val Single submitter ⚠
- p.Ala386Val Single submitter ⚠
- p.Ala393Ser Single submitter ⚠
- p.Ala437Val Single submitter ⚠
- p.Ala477Thr Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg158Ser Single submitter Inborn genetic diseases ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg188Leu Single submitter ⚠
- p.Arg234Pro Single submitter ⚠
- p.Arg245His Single submitter ⚠
- p.Arg251Gly Single submitter ⚠
- p.Arg251Met Single submitter ⚠
- p.Arg289Trp Single submitter ⚠
- p.Arg298Gly Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg356Trp Single submitter ⚠
- p.Arg392Pro Single submitter ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg456Cys Single submitter ⚠
- p.Asp65Asn Single submitter ⚠
- p.Gln102Arg Single submitter ⚠
- p.Gln94His Single submitter ⚠
- p.Glu218Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu370Lys Single submitter ⚠
- p.Glu417Ala Single submitter ⚠
- p.Gly124Ser Single submitter ⚠
- p.Gly156Val Single submitter ⚠
- p.Gly230Ser Single submitter ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly303Arg Single submitter ⚠
- p.Gly360Arg Single submitter ⚠
- p.Gly401Arg Single submitter ⚠
- p.Gly412Arg Single submitter ⚠
- p.Gly414Asp Single submitter ⚠
- p.Gly421Arg Single submitter ⚠
- p.Gly422Ala Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly439Arg Single submitter ⚠
- p.Gly91Ala Single submitter ⚠
- p.His145Tyr Single submitter ⚠
- p.Ile209Asn Single submitter ⚠
- p.Ile42Leu Single submitter ⚠
- p.Ile448Val Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu241Pro Single submitter ⚠
- p.Leu317Ile Single submitter ⚠
- p.Leu409Pro Single submitter ⚠
- p.Leu442Pro Single submitter ⚠
- p.Leu482Arg Single submitter ⚠
- p.Leu482Val Single submitter ⚠
- p.Lys4Glu Single submitter ⚠
- p.Met441Leu Single submitter ⚠
- p.Phe348Ser Single submitter ⚠
- p.Phe348Val Single submitter ⚠
- p.Phe415Leu Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro324Ser Single submitter ⚠
- p.Pro452Leu Single submitter ⚠
- p.Pro453Leu Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro78Ala Single submitter ⚠
- p.Ser136Leu Single submitter ⚠
- p.Ser161Leu Single submitter ⚠
- p.Ser215Thr Single submitter ⚠
- p.Ser321Phe Single submitter ⚠
- p.Ser83Cys Single submitter ⚠
- p.Ser95Cys Single submitter ⚠
- p.Ser95Thr Single submitter ⚠
- p.Thr259Ala Single submitter ⚠
- p.Thr285Ile Single submitter ⚠
- p.Thr29Ala Single submitter ⚠
- p.Thr351Ala Single submitter ⚠
- p.Thr51Met Single submitter ⚠
- p.Trp266Arg Single submitter ⚠
- p.Tyr118His Single submitter ⚠
- p.Tyr236Cys Single submitter ⚠
- p.Tyr350Cys Single submitter ⚠
- p.Tyr40Phe Single submitter ⚠
- p.Val107Ala Single submitter ⚠
- p.Val363Met Single submitter ⚠
- p.Val376Ala Single submitter ⚠