ENTPD8 — 125 ClinVar variants
All ClinVar germline ENTPD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →
3 Benign · 11 Likely benign · 111 Uncertain significance
Full ENTPD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 114
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ENTPD8 p.Thr125Met
Uncertain significance
Multiple submitters
microcephaly
- ENTPD8 p.Ala126Val Uncertain significance Single submitter
- ENTPD8 p.Ala145Glu Uncertain significance Single submitter
- ENTPD8 p.Ala267Asp Uncertain significance Single submitter
- ENTPD8 p.Ala32Val Uncertain significance Single submitter
- ENTPD8 p.Ala336Thr Uncertain significance Single submitter
- ENTPD8 p.Ala351Val Uncertain significance Single submitter
- ENTPD8 p.Ala375Thr Uncertain significance Single submitter
- ENTPD8 p.Ala458Ser Uncertain significance Single submitter
- ENTPD8 p.Ala77Val Uncertain significance Single submitter
- ENTPD8 p.Ala92Thr Uncertain significance Single submitter
- ENTPD8 p.Arg116Trp Uncertain significance Single submitter
- ENTPD8 p.Arg231His Uncertain significance Single submitter
- ENTPD8 p.Arg270His Uncertain significance Single submitter
- ENTPD8 p.Arg400Gln Uncertain significance Single submitter
- ENTPD8 p.Arg430Gln Uncertain significance Single submitter
- ENTPD8 p.Arg461Gln Uncertain significance Single submitter
- ENTPD8 p.Asp334Asn Uncertain significance Single submitter
- ENTPD8 p.Cys292Arg Uncertain significance Single submitter
- ENTPD8 p.Cys78Tyr Uncertain significance Single submitter
- ENTPD8 p.Gln114His Uncertain significance Single submitter
- ENTPD8 p.Gln459Arg Uncertain significance Single submitter
- ENTPD8 p.Glu168Lys Uncertain significance Single submitter
- ENTPD8 p.Glu198Lys Uncertain significance Single submitter
- ENTPD8 p.Glu422Asp Uncertain significance Single submitter
- ENTPD8 p.Glu428Lys Uncertain significance Single submitter
- ENTPD8 p.Glu7Gly Uncertain significance Single submitter
- ENTPD8 p.Gly127Asp Uncertain significance Single submitter
- ENTPD8 p.Gly172Ala Uncertain significance Single submitter
- ENTPD8 p.Gly208Ala Uncertain significance Single submitter
- ENTPD8 p.Gly208Arg Uncertain significance Single submitter
- ENTPD8 p.Gly309Ala Uncertain significance Single submitter
- ENTPD8 p.Gly70Asp Uncertain significance Single submitter
- ENTPD8 p.Ile193Met Uncertain significance Single submitter
- ENTPD8 p.Ile320Val Uncertain significance Single submitter
- ENTPD8 p.Leu479Val Uncertain significance Single submitter
- ENTPD8 p.Met445Lys Uncertain significance Single submitter
- ENTPD8 p.Pro344Arg Uncertain significance Single submitter
- ENTPD8 p.Pro425Arg Uncertain significance Single submitter
- ENTPD8 p.Pro457Leu Uncertain significance Single submitter
- ENTPD8 p.Ser235Phe Uncertain significance Single submitter
- ENTPD8 p.Ser254Asn Uncertain significance Single submitter
- ENTPD8 p.Ser276Arg Uncertain significance Single submitter
- ENTPD8 p.Ser464Arg Uncertain significance Single submitter
- ENTPD8 p.Ser51Phe Uncertain significance Single submitter
- ENTPD8 p.Thr175Ser Uncertain significance Single submitter
- ENTPD8 p.Thr449Ile Uncertain significance Single submitter
- ENTPD8 p.Thr69Lys Uncertain significance Single submitter
- ENTPD8 p.Tyr240Cys Uncertain significance Single submitter
- ENTPD8 p.Tyr240His Uncertain significance Single submitter
- ENTPD8 p.Val108Met Uncertain significance Single submitter
- ENTPD8 p.Val146Ile Uncertain significance Single submitter
- ENTPD8 p.Val155Met Uncertain significance Single submitter
- ENTPD8 p.Val258Leu Uncertain significance Single submitter
- ENTPD8 p.Val258Met Uncertain significance Single submitter
- ENTPD8 p.Val317Ile Uncertain significance Single submitter
- ENTPD8 p.Val46Met Uncertain significance Single submitter
Predictors split 57
The independent predictors disagree with each other — read with care.
- ENTPD8 p.Arg5Gln Benign Multiple submitters
- ENTPD8 p.Ala209Thr Uncertain significance Single submitter
- ENTPD8 p.Ala228Pro Uncertain significance Single submitter
- ENTPD8 p.Ala266Pro Uncertain significance Single submitter
- ENTPD8 p.Ala63Val Uncertain significance Single submitter
- ENTPD8 p.Arg152Trp Uncertain significance Single submitter
- ENTPD8 p.Arg249Pro Uncertain significance Single submitter
- ENTPD8 p.Arg249Trp Uncertain significance Single submitter
- ENTPD8 p.Arg270Cys Uncertain significance Single submitter
- ENTPD8 p.Arg321Trp Uncertain significance Single submitter
- ENTPD8 p.Arg400Trp Uncertain significance Single submitter
- ENTPD8 p.Asn304Lys Uncertain significance Single submitter
- ENTPD8 p.Asn374Asp Uncertain significance Single submitter
- ENTPD8 p.Asn67Tyr Uncertain significance Single submitter
- ENTPD8 p.Asp455Asn Uncertain significance Single submitter
- ENTPD8 p.Glu415Lys Uncertain significance Single submitter
- ENTPD8 p.Gly277Ser Uncertain significance Single submitter
- ENTPD8 p.Gly339Arg Uncertain significance Single submitter
- ENTPD8 p.Gly394Val Uncertain significance Single submitter
- ENTPD8 p.Gly68Arg Uncertain significance Single submitter
- ENTPD8 p.Gly84Ala Uncertain significance Single submitter
- ENTPD8 p.Ile409Leu Uncertain significance Single submitter
- ENTPD8 p.Leu257Val Uncertain significance Single submitter
- ENTPD8 p.Leu260Val Uncertain significance Single submitter
- ENTPD8 p.Leu27Arg Uncertain significance Single submitter
- ENTPD8 p.Leu301Arg Uncertain significance Single submitter
- ENTPD8 p.Leu301Ile Uncertain significance Single submitter
- ENTPD8 p.Leu364Phe Uncertain significance Single submitter
- ENTPD8 p.Leu399Pro Uncertain significance Single submitter
- ENTPD8 p.Leu442Pro Uncertain significance Single submitter
- ENTPD8 p.Leu477Pro Uncertain significance Single submitter
- ENTPD8 p.Leu56Val Uncertain significance Single submitter
- ENTPD8 p.Phe474Val Uncertain significance Single submitter
- ENTPD8 p.Pro265Leu Uncertain significance Single submitter
- ENTPD8 p.Pro291Ser Uncertain significance Single submitter
- ENTPD8 p.Pro298Gln Uncertain significance Single submitter
- ENTPD8 p.Pro298Ser Uncertain significance Single submitter
- ENTPD8 p.Pro302Leu Uncertain significance Single submitter
- ENTPD8 p.Pro313Arg Uncertain significance Single submitter
- ENTPD8 p.Pro453Leu Uncertain significance Single submitter
- ENTPD8 p.Pro83Thr Uncertain significance Single submitter
- ENTPD8 p.Ser290Leu Uncertain significance Single submitter
- ENTPD8 p.Ser290Pro Uncertain significance Single submitter
- ENTPD8 p.Ser420Gly Uncertain significance Single submitter
- ENTPD8 p.Ser90Cys Uncertain significance Single submitter
- ENTPD8 p.Thr182Met Likely benign Single submitter
- ENTPD8 p.Thr358Ile Uncertain significance Single submitter
- ENTPD8 p.Thr372Met Uncertain significance Single submitter
- ENTPD8 p.Thr411Ile Uncertain significance Single submitter
- ENTPD8 p.Tyr237His Likely benign Single submitter
- ENTPD8 p.Tyr350Cys Uncertain significance Single submitter
- ENTPD8 p.Tyr357His Uncertain significance Single submitter
- ENTPD8 p.Val239Ile Uncertain significance Single submitter
- ENTPD8 p.Val293Ala Uncertain significance Single submitter
- ENTPD8 p.Val30Met Uncertain significance Single submitter
- ENTPD8 p.Val35Met Uncertain significance Single submitter
- ENTPD8 p.Val472Met Uncertain significance Single submitter
All ENTPD8 variants
Benign 3
- c.1050+8C>T Multiple submitters
- p.Ala167= Multiple submitters
- p.Arg5Gln Multiple submitters ⚠
Likely benign 11
- p.Arg133Gln Single submitter
- p.Arg152Gln Single submitter
- p.Arg321Gln Single submitter
- p.Gly418Arg Single submitter
- p.His414= Single submitter
- p.Pro265= Single submitter
- p.Ser132Arg Single submitter
- p.Thr120Met Single submitter
- p.Thr182Met Single submitter ⚠
- p.Thr89Ala Single submitter
- p.Tyr237His Single submitter ⚠
Uncertain significance 111
- p.Thr125Met Multiple submitters microcephaly ⚠
- p.Ala126Val Single submitter ⚠
- p.Ala145Glu Single submitter ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala228Pro Single submitter ⚠
- p.Ala266Pro Single submitter ⚠
- p.Ala267Asp Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala336Thr Single submitter ⚠
- p.Ala351Val Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Ala458Ser Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala92Thr Single submitter ⚠
- p.Arg116Trp Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg249Pro Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg270His Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg400Gln Single submitter ⚠
- p.Arg400Trp Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg461Gln Single submitter ⚠
- p.Asn304Lys Single submitter ⚠
- p.Asn374Asp Single submitter ⚠
- p.Asn67Tyr Single submitter ⚠
- p.Asp334Asn Single submitter ⚠
- p.Asp455Asn Single submitter ⚠
- p.Cys292Arg Single submitter ⚠
- p.Cys78Tyr Single submitter ⚠
- p.Gln114His Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu415Lys Single submitter ⚠
- p.Glu422Asp Single submitter ⚠
- p.Glu428Lys Single submitter ⚠
- p.Glu7Gly Single submitter ⚠
- p.Gly127Asp Single submitter ⚠
- p.Gly172Ala Single submitter ⚠
- p.Gly208Ala Single submitter ⚠
- p.Gly208Arg Single submitter ⚠
- p.Gly277Ser Single submitter ⚠
- p.Gly309Ala Single submitter ⚠
- p.Gly339Arg Single submitter ⚠
- p.Gly394Val Single submitter ⚠
- p.Gly68Arg Single submitter ⚠
- p.Gly70Asp Single submitter ⚠
- p.Gly84Ala Single submitter ⚠
- p.Ile193Met Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Ile409Leu Single submitter ⚠
- p.Leu257Val Single submitter ⚠
- p.Leu260Val Single submitter ⚠
- p.Leu27Arg Single submitter ⚠
- p.Leu301Arg Single submitter ⚠
- p.Leu301Ile Single submitter ⚠
- p.Leu364Phe Single submitter ⚠
- p.Leu399Pro Single submitter ⚠
- p.Leu442Pro Single submitter ⚠
- p.Leu477Pro Single submitter ⚠
- p.Leu479Val Single submitter ⚠
- p.Leu56Val Single submitter ⚠
- p.Met445Lys Single submitter ⚠
- p.Phe474Val Single submitter ⚠
- p.Pro265Leu Single submitter ⚠
- p.Pro291Ser Single submitter ⚠
- p.Pro298Gln Single submitter ⚠
- p.Pro298Ser Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro313Arg Single submitter ⚠
- p.Pro344Arg Single submitter ⚠
- p.Pro425Arg Single submitter ⚠
- p.Pro453Leu Single submitter ⚠
- p.Pro457Leu Single submitter ⚠
- p.Pro83Thr Single submitter ⚠
- p.Ser235Phe Single submitter ⚠
- p.Ser254Asn Single submitter ⚠
- p.Ser276Arg Single submitter ⚠
- p.Ser290Leu Single submitter ⚠
- p.Ser290Pro Single submitter ⚠
- p.Ser420Gly Single submitter ⚠
- p.Ser464Arg Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Ser90Cys Single submitter ⚠
- p.Thr175Ser Single submitter ⚠
- p.Thr358Ile Single submitter ⚠
- p.Thr372Met Single submitter ⚠
- p.Thr411Ile Single submitter ⚠
- p.Thr449Ile Single submitter ⚠
- p.Thr69Lys Single submitter ⚠
- p.Tyr240Cys Single submitter ⚠
- p.Tyr240His Single submitter ⚠
- p.Tyr350Cys Single submitter ⚠
- p.Tyr357His Single submitter ⚠
- p.Val108Met Single submitter ⚠
- p.Val146Ile Single submitter ⚠
- p.Val155Met Single submitter ⚠
- p.Val239Ile Single submitter ⚠
- p.Val258Leu Single submitter ⚠
- p.Val258Met Single submitter ⚠
- p.Val293Ala Single submitter ⚠
- p.Val30Met Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val35Met Single submitter ⚠
- p.Val46Met Single submitter ⚠
- p.Val472Met Single submitter ⚠