ENTPD7 — 78 ClinVar variants

All ClinVar germline ENTPD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

1 Conflicting · 1 Benign · 2 Likely benign · 74 Uncertain significance

Full ENTPD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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.

Predictors split 30

The independent predictors disagree with each other — read with care.

All ENTPD7 variants

Conflicting classifications of pathogenicity 1

c.*4789T>C Single submitter Leigh syndrome

Benign 1

c.*6425_*6426dup Single submitter

Likely benign 2

p.Arg501Gln Single submitter
p.Lys474= Single submitter

Uncertain significance 74

p.Ala157Ser Single submitter ⚠
p.Ala444Thr Single submitter ⚠
p.Ala503Asp Single submitter ⚠
p.Ala517Thr Single submitter ⚠
p.Arg121His Single submitter ⚠
p.Arg250Gln Single submitter ⚠
p.Arg26Cys Single submitter ⚠
p.Arg26His Single submitter ⚠
p.Arg28Trp Single submitter ⚠
p.Arg321Gln Single submitter ⚠
p.Arg323His Single submitter ⚠
p.Arg337Gly Single submitter ⚠
p.Arg434His Single submitter ⚠
p.Arg509Gln Single submitter ⚠
p.Arg523Gln Single submitter ⚠
p.Arg544Cys Single submitter ⚠
p.Arg544His Single submitter ⚠
p.Arg571Trp Single submitter ⚠
p.Arg573Cys Single submitter ⚠
p.Arg574Gln Single submitter ⚠
p.Asn226Lys Single submitter ⚠
p.Asn226Ser Single submitter ⚠
p.Asn412Ser Single submitter ⚠
p.Asp362Tyr Single submitter ⚠
p.Gln124His Single submitter ⚠
p.Gln206Pro Single submitter ⚠
p.Gln61Lys Single submitter ⚠
p.Glu235Lys Single submitter ⚠
p.Glu331Gln Single submitter ⚠
p.Gly107Val Single submitter ⚠
p.Gly316Arg Single submitter ⚠
p.Gly383Trp Single submitter ⚠
p.Gly417Ser Single submitter ⚠
p.Gly432Asp Single submitter ⚠
p.His372Gln Single submitter ⚠
p.His51Tyr Single submitter ⚠
p.His539Tyr Single submitter ⚠
p.Ile115Val Single submitter ⚠
p.Ile130Thr Single submitter ⚠
p.Ile37Val Single submitter ⚠
p.Ile403Met Single submitter ⚠
p.Ile408Val Single submitter ⚠
p.Ile565Val Single submitter ⚠
p.Leu179Phe Single submitter ⚠
p.Leu264Pro Single submitter ⚠
p.Leu338Phe Single submitter ⚠
p.Leu567Pro Single submitter ⚠
p.Met44Val Single submitter ⚠
p.Met483Ile Single submitter ⚠
p.Phe200Ser Single submitter ⚠
p.Phe292Ile Single submitter ⚠
p.Phe493Leu Single submitter ⚠
p.Pro125Arg Single submitter ⚠
p.Pro347Ser Single submitter ⚠
p.Pro438fs Single submitter
p.Ser22Asn Single submitter ⚠
p.Ser263Cys Single submitter ⚠
p.Ser387Arg Single submitter ⚠
p.Thr395Ile Single submitter ⚠
p.Thr514Met Single submitter ⚠
p.Trp452Ser Single submitter ⚠
p.Tyr404His Single submitter ⚠
p.Tyr404Phe Single submitter ⚠
p.Tyr507Cys Single submitter ⚠
p.Tyr65Ser Single submitter ⚠
p.Val159Leu Single submitter ⚠
p.Val219Ile Single submitter ⚠
p.Val304Gly Single submitter ⚠
p.Val304Met Single submitter ⚠
p.Val364Gly Single submitter ⚠
p.Val506Met Single submitter ⚠
p.Val560Leu Single submitter ⚠
p.Val69Ile Single submitter ⚠
p.Val88Ala Single submitter ⚠