ENTREP1 — 130 ClinVar variants
All ClinVar germline ENTREP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
4 Conflicting · 25 Benign · 22 Likely benign · 79 Uncertain significance
Full ENTREP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENTREP1 p.Ala374Ser Uncertain significance Single submitter
- ENTREP1 p.Ala418Asp Uncertain significance Single submitter
- ENTREP1 p.Ala440Ser Uncertain significance Single submitter
- ENTREP1 p.Ala440Thr Uncertain significance Single submitter
- ENTREP1 p.Ala448Ser Uncertain significance Single submitter
- ENTREP1 p.Ala492Val Uncertain significance Single submitter
- ENTREP1 p.Ala574Pro Uncertain significance Single submitter
- ENTREP1 p.Arg288Leu Uncertain significance Single submitter
- ENTREP1 p.Arg288Ser Uncertain significance Single submitter
- ENTREP1 p.Arg314Gln Uncertain significance Single submitter
- ENTREP1 p.Arg317His Uncertain significance Single submitter
- ENTREP1 p.Arg554Gln Uncertain significance Single submitter
- ENTREP1 p.Arg599Gln Uncertain significance Single submitter
- ENTREP1 p.Asn219Asp Uncertain significance Single submitter
- ENTREP1 p.Asn316Lys Uncertain significance Single submitter
- ENTREP1 p.Asp193Asn Uncertain significance Single submitter
- ENTREP1 p.Cys168Tyr Uncertain significance Single submitter
- ENTREP1 p.Cys254Phe Uncertain significance Single submitter
- ENTREP1 p.Cys272Arg Uncertain significance Single submitter
- ENTREP1 p.Gln542His Uncertain significance Single submitter
- ENTREP1 p.Gly321Asp Uncertain significance Single submitter
- ENTREP1 p.Gly337Ser Uncertain significance Single submitter
- ENTREP1 p.Gly381Ala Uncertain significance Single submitter
- ENTREP1 p.Gly575Arg Uncertain significance Single submitter
- ENTREP1 p.His433Tyr Uncertain significance Single submitter
- ENTREP1 p.His523Leu Uncertain significance Single submitter
- ENTREP1 p.His523Pro Uncertain significance Single submitter
- ENTREP1 p.Ile479Leu Uncertain significance Single submitter
- ENTREP1 p.Ile595Thr Uncertain significance Single submitter
- ENTREP1 p.Leu560Pro Uncertain significance Single submitter
- ENTREP1 p.Met315Lys Uncertain significance Single submitter
- ENTREP1 p.Met524Val Uncertain significance Single submitter
- ENTREP1 p.Phe295Ser Uncertain significance Single submitter
- ENTREP1 p.Pro298Ser Uncertain significance Single submitter
- ENTREP1 p.Pro302Ala Uncertain significance Single submitter
- ENTREP1 p.Pro322Ser Uncertain significance Single submitter
- ENTREP1 p.Pro328Leu Uncertain significance Single submitter
- ENTREP1 p.Pro412Thr Uncertain significance Single submitter
- ENTREP1 p.Pro421Leu Uncertain significance Single submitter
- ENTREP1 p.Pro430Leu Uncertain significance Single submitter
- ENTREP1 p.Pro475Ser Uncertain significance Single submitter
- ENTREP1 p.Pro583His Uncertain significance Single submitter
- ENTREP1 p.Thr250Ala Uncertain significance Single submitter
- ENTREP1 p.Thr572Ile Uncertain significance Single submitter
- ENTREP1 p.Val253Ile Uncertain significance Single submitter
- ENTREP1 p.Val338Met Uncertain significance Single submitter
- ENTREP1 p.Val586Gly Uncertain significance Single submitter
- ENTREP1 p.Val597Ile Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- ENTREP1 p.Arg191Gly Uncertain significance Single submitter
- ENTREP1 p.Arg261Cys Uncertain significance Single submitter
- ENTREP1 p.Arg261His Uncertain significance Single submitter
- ENTREP1 p.Arg314Trp Uncertain significance Single submitter
- ENTREP1 p.Arg317Cys Uncertain significance Single submitter
- ENTREP1 p.Arg411Cys Uncertain significance Single submitter
- ENTREP1 p.Arg411His Likely benign Single submitter
- ENTREP1 p.Arg416Gln Conflicting Single submitter
- ENTREP1 p.Arg416Trp Uncertain significance Single submitter
- ENTREP1 p.Arg476Trp Uncertain significance Single submitter
- ENTREP1 p.Arg584Trp Uncertain significance Single submitter
- ENTREP1 p.Asn512Asp Uncertain significance Single submitter
- ENTREP1 p.Gln497His Uncertain significance Single submitter
- ENTREP1 p.Glu397Lys Uncertain significance Single submitter
- ENTREP1 p.Glu496Gly Uncertain significance Single submitter
- ENTREP1 p.Glu535Lys Uncertain significance Single submitter
- ENTREP1 p.His233Arg Uncertain significance Single submitter
- ENTREP1 p.Ile155Thr Uncertain significance Single submitter
- ENTREP1 p.Lys217Ile Uncertain significance Single submitter
- ENTREP1 p.Lys238Ile Uncertain significance Single submitter
- ENTREP1 p.Lys514Ile Uncertain significance Single submitter
- ENTREP1 p.Pro225Leu Uncertain significance Single submitter
- ENTREP1 p.Pro297Leu Uncertain significance Single submitter
- ENTREP1 p.Pro326His Uncertain significance Single submitter
- ENTREP1 p.Pro347Leu Uncertain significance Single submitter
- ENTREP1 p.Pro475Leu Uncertain significance Single submitter
- ENTREP1 p.Ser310Leu Uncertain significance Single submitter
- ENTREP1 p.Ser310Thr Uncertain significance Single submitter
- ENTREP1 p.Ser544Arg Uncertain significance Single submitter
- ENTREP1 p.Thr252Ile Uncertain significance Single submitter
- ENTREP1 p.Thr545Ile Uncertain significance Single submitter
- ENTREP1 p.Tyr331His Uncertain significance Single submitter
- ENTREP1 p.Val353Leu Uncertain significance Single submitter
All ENTREP1 variants
Conflicting classifications of pathogenicity 4
- p.Ala588Val Single submitter ⚠
- p.Arg416Gln Single submitter ⚠
- p.His286Tyr Single submitter ⚠
- p.Ser553Leu Single submitter ⚠
Benign 25
- c.1163-10_1163-8del Single submitter
- c.1163-11_1163-8del Single submitter
- c.1163-279del Single submitter
- c.1163-31T>A Single submitter
- c.1163-37C>T Single submitter
- c.1163-5del Single submitter prostate cancer
- c.1163-7A>T Single submitter
- c.1163-9_1163-8del Single submitter
- c.1315+291C>A Single submitter
- c.1316-115A>C Single submitter
- c.1316-38T>C Single submitter
- c.1608+163G>A Single submitter
- c.1609-244A>T Single submitter
- c.472-100T>C Single submitter
- c.472-139G>C Single submitter
- c.472-99G>A Single submitter
- c.582+280A>C Single submitter
- c.583-7C>T Single submitter
- c.711+248C>T Single submitter
- c.819+10T>C Single submitter
- c.954-155T>G Single submitter
- c.*91dup Single submitter
- p.Cys565= Single submitter
- p.Leu141Phe Single submitter
- p.Thr386Ile Single submitter
Likely benign 22
- c.1083+8C>T Single submitter
- c.1163-10_1163-7del Single submitter
- c.1163-21_1163-7del Single submitter
- c.1163-8_1163-7del Single submitter
- c.1163-8del Single submitter
- c.1163-9_1163-7del Single submitter
- c.1609-62G>C Single submitter
- c.582+80A>G Single submitter
- c.711+42G>A Single submitter
- c.711+7C>G Single submitter
- c.712-87C>T Single submitter
- p.Ala396= Single submitter
- p.Ala400Thr Single submitter
- p.Arg411His Single submitter ⚠
- p.Gln361Ter Single submitter
- p.Gly566= Single submitter
- p.Pro347= Single submitter
- p.Pro434His Single submitter
- p.Pro475= Single submitter
- p.Ser553= Single submitter
- p.Ser99= Single submitter
- p.Thr148Ile Single submitter
Uncertain significance 79
- p.Ala374Ser Single submitter ⚠
- p.Ala418Asp Single submitter ⚠
- p.Ala440Ser Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala448Ser Single submitter ⚠
- p.Ala492Val Single submitter ⚠
- p.Ala574Pro Single submitter ⚠
- p.Arg191Gly Single submitter ⚠
- p.Arg261Cys Single submitter ⚠
- p.Arg261His Single submitter ⚠
- p.Arg288Leu Single submitter ⚠
- p.Arg288Ser Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg314Trp Single submitter ⚠
- p.Arg317Cys Single submitter ⚠
- p.Arg317His Single submitter ⚠
- p.Arg411Cys Single submitter ⚠
- p.Arg416Trp Single submitter ⚠
- p.Arg476Trp Single submitter ⚠
- p.Arg554Gln Single submitter ⚠
- p.Arg584Trp Single submitter ⚠
- p.Arg599Gln Single submitter ⚠
- p.Asn219Asp Single submitter ⚠
- p.Asn316Lys Single submitter ⚠
- p.Asn512Asp Single submitter ⚠
- p.Asp193Asn Single submitter ⚠
- p.Cys168Tyr Single submitter ⚠
- p.Cys254Phe Single submitter ⚠
- p.Cys272Arg Single submitter ⚠
- p.Gln497His Single submitter ⚠
- p.Gln542His Single submitter ⚠
- p.Glu397Lys Single submitter ⚠
- p.Glu496Gly Single submitter ⚠
- p.Glu535Lys Single submitter ⚠
- p.Gly321Asp Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.Gly381Ala Single submitter ⚠
- p.Gly575Arg Single submitter ⚠
- p.His233Arg Single submitter ⚠
- p.His433Tyr Single submitter ⚠
- p.His523Leu Single submitter ⚠
- p.His523Pro Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile479Leu Single submitter ⚠
- p.Ile595Thr Single submitter ⚠
- p.Leu560Pro Single submitter ⚠
- p.Lys217Ile Single submitter ⚠
- p.Lys238Ile Single submitter ⚠
- p.Lys514Ile Single submitter ⚠
- p.Met315Lys Single submitter ⚠
- p.Met524Val Single submitter ⚠
- p.Phe295Ser Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro298Ser Single submitter ⚠
- p.Pro302Ala Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro326His Single submitter ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro347Leu Single submitter ⚠
- p.Pro412Thr Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Pro430Leu Single submitter ⚠
- p.Pro475Leu Single submitter ⚠
- p.Pro475Ser Single submitter ⚠
- p.Pro583His Single submitter ⚠
- p.Ser310Leu Single submitter ⚠
- p.Ser310Thr Single submitter ⚠
- p.Ser544Arg Single submitter ⚠
- p.Thr250Ala Single submitter ⚠
- p.Thr252Ile Single submitter ⚠
- p.Thr545Ile Single submitter ⚠
- p.Thr572Ile Single submitter ⚠
- p.Tyr331His Single submitter ⚠
- p.Val253Ile Single submitter ⚠
- p.Val338Met Single submitter ⚠
- p.Val353Leu Single submitter ⚠
- p.Val586Gly Single submitter ⚠
- p.Val597Ile Single submitter ⚠