ENTPD6 — 73 ClinVar variants
All ClinVar germline ENTPD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
1 Benign · 10 Likely benign · 62 Uncertain significance
Full ENTPD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENTPD6 p.Ala397Val Uncertain significance Single submitter
- ENTPD6 p.Ala67Thr Uncertain significance Single submitter
- ENTPD6 p.Ala77Gly Uncertain significance Single submitter
- ENTPD6 p.Ala77Thr Uncertain significance Single submitter
- ENTPD6 p.Ala81Pro Uncertain significance Single submitter
- ENTPD6 p.Ala81Val Uncertain significance Single submitter
- ENTPD6 p.Arg122Leu Uncertain significance Single submitter
- ENTPD6 p.Arg186His Uncertain significance Single submitter
- ENTPD6 p.Arg303Cys Uncertain significance Single submitter
- ENTPD6 p.Arg30Gly Uncertain significance Single submitter
- ENTPD6 p.Arg417Gln Uncertain significance Single submitter
- ENTPD6 p.Asn459Asp Uncertain significance Single submitter
- ENTPD6 p.Glu354Lys Uncertain significance Single submitter
- ENTPD6 p.Gly103Arg Uncertain significance Single submitter
- ENTPD6 p.Gly255Glu Uncertain significance Single submitter
- ENTPD6 p.Gly296Arg Uncertain significance Single submitter
- ENTPD6 p.Gly298Arg Uncertain significance Single submitter
- ENTPD6 p.His116Pro Uncertain significance Single submitter
- ENTPD6 p.His22Gln Uncertain significance Single submitter
- ENTPD6 p.Ile16Thr Uncertain significance Single submitter
- ENTPD6 p.Ile469Thr Uncertain significance Single submitter
- ENTPD6 p.Ile469Val Uncertain significance Single submitter
- ENTPD6 p.Ile55Val Uncertain significance Single submitter
- ENTPD6 p.Ile60Val Uncertain significance Single submitter
- ENTPD6 p.Lys316Met Uncertain significance Single submitter
- ENTPD6 p.Phe261Leu Uncertain significance Single submitter
- ENTPD6 p.Pro128Leu Uncertain significance Single submitter
- ENTPD6 p.Pro423Leu Uncertain significance Single submitter
- ENTPD6 p.Ser245Arg Uncertain significance Single submitter
- ENTPD6 p.Ser73Arg Uncertain significance Single submitter
- ENTPD6 p.Thr129Met Uncertain significance Single submitter
- ENTPD6 p.Thr13Met Uncertain significance Single submitter
- ENTPD6 p.Thr75Ala Uncertain significance Single submitter
- ENTPD6 p.Val265Gly Uncertain significance Single submitter
- ENTPD6 p.Val368Met Uncertain significance Single submitter
- ENTPD6 p.Val404Met Uncertain significance Single submitter
- ENTPD6 p.Val460Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- ENTPD6 p.Ala153Thr Likely benign Single submitter
- ENTPD6 p.Ala305Val Uncertain significance Single submitter
- ENTPD6 p.Ala337Thr Uncertain significance Single submitter
- ENTPD6 p.Ala390Val Uncertain significance Single submitter
- ENTPD6 p.Ala411Thr Uncertain significance Single submitter
- ENTPD6 p.Arg264Cys Uncertain significance Single submitter
- ENTPD6 p.Arg264His Uncertain significance Single submitter
- ENTPD6 p.Arg370Ser Uncertain significance Single submitter
- ENTPD6 p.Arg455Gln Uncertain significance Single submitter
- ENTPD6 p.Asp387Asn Uncertain significance Single submitter
- ENTPD6 p.Asp474Asn Uncertain significance Single submitter
- ENTPD6 p.Cys215Tyr Uncertain significance Single submitter
- ENTPD6 p.Glu409Lys Uncertain significance Single submitter
- ENTPD6 p.Gly212Arg Uncertain significance Single submitter
- ENTPD6 p.Gly318Arg Uncertain significance Single submitter
- ENTPD6 p.His336Asn Uncertain significance Single submitter
- ENTPD6 p.His98Pro Uncertain significance Single submitter
- ENTPD6 p.Leu239Trp Uncertain significance Single submitter
- ENTPD6 p.Phe408Ile Uncertain significance Single submitter
- ENTPD6 p.Phe443Tyr Uncertain significance Single submitter
- ENTPD6 p.Thr278Met Uncertain significance Single submitter
- ENTPD6 p.Thr371Met Uncertain significance Single submitter
- ENTPD6 p.Val117Ile Likely benign Single submitter
- ENTPD6 p.Val247Ala Uncertain significance Single submitter
- ENTPD6 p.Val405Ala Uncertain significance Single submitter
- ENTPD6 p.Val51Met Uncertain significance Single submitter
- ENTPD6 p.Val53Ala Uncertain significance Single submitter
All ENTPD6 variants
Benign 1
- p.Phe428= Multiple submitters
Likely benign 10
- p.Val436Ile Multiple submitters
- p.Ala153Thr Single submitter ⚠
- p.Ala260Thr Single submitter
- p.Ala81Thr Single submitter
- p.Arg122Gln Single submitter
- p.Arg281Gln Single submitter
- p.Lys316Glu Single submitter
- p.Pro20Leu Single submitter
- p.Thr129= Single submitter
- p.Val117Ile Single submitter ⚠
Uncertain significance 62
- p.Ala305Val Single submitter ⚠
- p.Ala337Thr Single submitter ⚠
- p.Ala390Val Single submitter ⚠
- p.Ala397Val Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala77Gly Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Ala81Pro Single submitter ⚠
- p.Ala81Val Single submitter ⚠
- p.Arg122Leu Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg264Cys Single submitter ⚠
- p.Arg264His Single submitter ⚠
- p.Arg303Cys Single submitter ⚠
- p.Arg30Gly Single submitter ⚠
- p.Arg370Ser Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg455Gln Single submitter ⚠
- p.Asn459Asp Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp474Asn Single submitter ⚠
- p.Cys215Tyr Single submitter ⚠
- p.Glu354Lys Single submitter ⚠
- p.Glu409Lys Single submitter ⚠
- p.Gly103Arg Single submitter ⚠
- p.Gly212Arg Single submitter ⚠
- p.Gly255Glu Single submitter ⚠
- p.Gly296Arg Single submitter ⚠
- p.Gly298Arg Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.His116Pro Single submitter ⚠
- p.His22Gln Single submitter ⚠
- p.His336Asn Single submitter ⚠
- p.His98Pro Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile469Thr Single submitter ⚠
- p.Ile469Val Single submitter ⚠
- p.Ile55Val Single submitter ⚠
- p.Ile60Val Single submitter ⚠
- p.Leu239Trp Single submitter ⚠
- p.Lys316Met Single submitter ⚠
- p.Phe261Leu Single submitter ⚠
- p.Phe408Ile Single submitter ⚠
- p.Phe443Tyr Single submitter ⚠
- p.Pro128Leu Single submitter ⚠
- p.Pro423Leu Single submitter ⚠
- p.Ser245Arg Single submitter ⚠
- p.Ser73Arg Single submitter ⚠
- p.Thr129Met Single submitter ⚠
- p.Thr13Met Single submitter ⚠
- p.Thr278Met Single submitter ⚠
- p.Thr371Met Single submitter ⚠
- p.Thr75Ala Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val265Gly Single submitter ⚠
- p.Val368Met Single submitter ⚠
- p.Val404Met Single submitter ⚠
- p.Val405Ala Single submitter ⚠
- p.Val460Ile Single submitter ⚠
- p.Val51Met Single submitter ⚠
- p.Val53Ala Single submitter ⚠