ENTPD5 — 52 ClinVar variants
All ClinVar germline ENTPD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Benign · 1 Likely benign · 50 Uncertain significance
Full ENTPD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENTPD5 p.Ala2Val Uncertain significance Single submitter
- ENTPD5 p.Ala305Thr Uncertain significance Single submitter
- ENTPD5 p.Ala416Val Uncertain significance Single submitter
- ENTPD5 p.Ala92Pro Uncertain significance Single submitter
- ENTPD5 p.Arg134Cys Uncertain significance Single submitter
- ENTPD5 p.Arg309Lys Uncertain significance Single submitter
- ENTPD5 p.Arg61Gln Uncertain significance Single submitter
- ENTPD5 p.Asn293Ser Uncertain significance Single submitter
- ENTPD5 p.Asn42Ser Uncertain significance Single submitter
- ENTPD5 p.Asp340Glu Uncertain significance Single submitter
- ENTPD5 p.Asp395Gly Uncertain significance Single submitter
- ENTPD5 p.Gln105Glu Uncertain significance Single submitter
- ENTPD5 p.Glu172Asp Uncertain significance Single submitter
- ENTPD5 p.Gly196Glu Uncertain significance Single submitter
- ENTPD5 p.Gly201Val Uncertain significance Single submitter
- ENTPD5 p.Gly223Ala Uncertain significance Single submitter
- ENTPD5 p.Gly6Ser Uncertain significance Single submitter
- ENTPD5 p.His23Gln Uncertain significance Single submitter
- ENTPD5 p.Ile174Val Uncertain significance Single submitter
- ENTPD5 p.Phe213Ser Uncertain significance Single submitter
- ENTPD5 p.Phe228Ser Uncertain significance Single submitter
- ENTPD5 p.Phe228Val Uncertain significance Single submitter
- ENTPD5 p.Phe268Ser Uncertain significance Single submitter
- ENTPD5 p.Ser57Ile Uncertain significance Single submitter
- ENTPD5 p.Thr130Ala Uncertain significance Single submitter
- ENTPD5 p.Thr339Ile Uncertain significance Single submitter
- ENTPD5 p.Thr60Ile Uncertain significance Single submitter
- ENTPD5 p.Thr7Ile Uncertain significance Single submitter
- ENTPD5 p.Val104Ile Uncertain significance Single submitter
- ENTPD5 p.Val178Ile Uncertain significance Single submitter
- ENTPD5 p.Val17Ala Uncertain significance Single submitter
- ENTPD5 p.Val310Gly Uncertain significance Single submitter
- ENTPD5 p.Val82Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ENTPD5 p.Ala257Thr Uncertain significance Single submitter
- ENTPD5 p.Ala385Thr Uncertain significance Single submitter
- ENTPD5 p.Asp340His Uncertain significance Single submitter
- ENTPD5 p.Gln322His Uncertain significance Single submitter
- ENTPD5 p.Gln400Glu Uncertain significance Single submitter
- ENTPD5 p.Gln400Pro Uncertain significance Single submitter
- ENTPD5 p.Leu401Phe Uncertain significance Single submitter
- ENTPD5 p.Lys215Ile Uncertain significance Single submitter
- ENTPD5 p.Phe369Leu Uncertain significance Single submitter
- ENTPD5 p.Ser233Gly Uncertain significance Single submitter
- ENTPD5 p.Ser373Arg Uncertain significance Single submitter
- ENTPD5 p.Thr179Ala Uncertain significance Single submitter
- ENTPD5 p.Thr194Ala Uncertain significance Single submitter
- ENTPD5 p.Thr410Met Uncertain significance Single submitter
- ENTPD5 p.Tyr224Cys Uncertain significance Single submitter
- ENTPD5 p.Val110Met Uncertain significance Single submitter
- ENTPD5 p.Val362Ala Uncertain significance Single submitter
All ENTPD5 variants
Benign 1
- c.442-14dup Single submitter
Likely benign 1
- p.Ala20Thr Single submitter
Uncertain significance 50
- p.Ala257Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala385Thr Single submitter ⚠
- p.Ala416Val Single submitter ⚠
- p.Ala92Pro Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg309Lys Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Asn293Ser Single submitter ⚠
- p.Asn42Ser Single submitter ⚠
- p.Asp340Glu Single submitter ⚠
- p.Asp340His Single submitter ⚠
- p.Asp395Gly Single submitter ⚠
- p.Gln105Glu Single submitter ⚠
- p.Gln322His Single submitter ⚠
- p.Gln400Glu Single submitter ⚠
- p.Gln400Pro Single submitter ⚠
- p.Glu172Asp Single submitter ⚠
- p.Gly196Glu Single submitter ⚠
- p.Gly201Val Single submitter ⚠
- p.Gly223Ala Single submitter ⚠
- p.Gly6Ser Single submitter ⚠
- p.His23Gln Single submitter ⚠
- p.Ile174Val Single submitter ⚠
- p.Leu401Phe Single submitter ⚠
- p.Lys215Ile Single submitter ⚠
- p.Phe213Ser Single submitter ⚠
- p.Phe228Ser Single submitter ⚠
- p.Phe228Val Single submitter ⚠
- p.Phe268Ser Single submitter ⚠
- p.Phe369Leu Single submitter ⚠
- p.Ser233Gly Single submitter ⚠
- p.Ser373Arg Single submitter ⚠
- p.Ser57Ile Single submitter ⚠
- p.Thr130Ala Single submitter ⚠
- p.Thr179Ala Single submitter ⚠
- p.Thr194Ala Single submitter ⚠
- p.Thr339Ile Single submitter ⚠
- p.Thr410Met Single submitter ⚠
- p.Thr60Ile Single submitter ⚠
- p.Thr7Ile Single submitter ⚠
- p.Tyr224Cys Single submitter ⚠
- p.Val104Ile Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val178Ile Single submitter ⚠
- p.Val17Ala Single submitter ⚠
- p.Val310Gly Single submitter ⚠
- p.Val362Ala Single submitter ⚠
- p.Val82Leu Single submitter ⚠