ERAP1 — 174 ClinVar variants
All ClinVar germline ERAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
1 Conflicting · 50 Benign · 3 Benign/Likely benign · 19 Likely benign · 101 Uncertain significance
Full ERAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERAP1 p.Ala228Ser Uncertain significance Single submitter
- ERAP1 p.Ala456Thr Uncertain significance Single submitter
- ERAP1 p.Ala701Asp Uncertain significance Single submitter
- ERAP1 p.Arg168Lys Uncertain significance Single submitter
- ERAP1 p.Arg41His Uncertain significance Single submitter
- ERAP1 p.Arg746Lys Uncertain significance Single submitter
- ERAP1 p.Asn321Lys Uncertain significance Single submitter
- ERAP1 p.Asn642Asp Uncertain significance Single submitter
- ERAP1 p.Asn880Lys Uncertain significance Single submitter
- ERAP1 p.Asp766Asn Uncertain significance Single submitter
- ERAP1 p.Cys404Arg Uncertain significance Single submitter
- ERAP1 p.Cys907Phe Uncertain significance Single submitter
- ERAP1 p.Glu354Asp Uncertain significance Single submitter
- ERAP1 p.Glu613Asp Uncertain significance Single submitter
- ERAP1 p.Glu613Gln Uncertain significance Single submitter
- ERAP1 p.Glu679Lys Uncertain significance Single submitter
- ERAP1 p.Gly490Ala Uncertain significance Single submitter
- ERAP1 p.Gly775Arg Uncertain significance Single submitter
- ERAP1 p.Ile444Val Uncertain significance Single submitter
- ERAP1 p.Ile649Thr Uncertain significance Single submitter
- ERAP1 p.Leu139Pro Uncertain significance Single submitter
- ERAP1 p.Leu214Ile Uncertain significance Single submitter
- ERAP1 p.Leu703Ile Uncertain significance Single submitter
- ERAP1 p.Leu769Phe Uncertain significance Single submitter
- ERAP1 p.Leu785Phe Uncertain significance Single submitter
- ERAP1 p.Leu860Pro Uncertain significance Single submitter
- ERAP1 p.Leu866Val Uncertain significance Single submitter
- ERAP1 p.Lys937Thr Uncertain significance Single submitter
- ERAP1 p.Met447Val Uncertain significance Single submitter
- ERAP1 p.Met494Ile Uncertain significance Single submitter
- ERAP1 p.Met521Ile Uncertain significance Single submitter
- ERAP1 p.Met683Ile Uncertain significance Single submitter
- ERAP1 p.Phe644Cys Uncertain significance Single submitter
- ERAP1 p.Phe674Ile Uncertain significance Single submitter
- ERAP1 p.Pro29Ser Uncertain significance Single submitter
- ERAP1 p.Pro557Leu Uncertain significance Single submitter
- ERAP1 p.Ser202Asn Uncertain significance Single submitter
- ERAP1 p.Ser388Gly Uncertain significance Single submitter
- ERAP1 p.Ser508Thr Uncertain significance Single submitter
- ERAP1 p.Ser787Thr Uncertain significance Single submitter
- ERAP1 p.Thr180Ala Uncertain significance Single submitter
- ERAP1 p.Trp31Arg Uncertain significance Single submitter
- ERAP1 p.Trp8Ser Uncertain significance Single submitter
- ERAP1 p.Val265Ile Uncertain significance Single submitter
- ERAP1 p.Val565Ala Uncertain significance Single submitter
- ERAP1 p.Val737Met Uncertain significance Single submitter
- ERAP1 p.Val767Met Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- ERAP1 p.Ile915Thr Likely benign Multiple submitters
- ERAP1 p.Ala178Ser Uncertain significance Single submitter
- ERAP1 p.Ala187Gly Uncertain significance Single submitter
- ERAP1 p.Ala407Thr Uncertain significance Single submitter
- ERAP1 p.Ala735Thr Uncertain significance Single submitter
- ERAP1 p.Arg41Cys Uncertain significance Single submitter
- ERAP1 p.Arg579Gln Uncertain significance Single submitter
- ERAP1 p.Arg725Gln Benign Single submitter
- ERAP1 p.Arg887Trp Likely benign Single submitter
- ERAP1 p.Asp618Asn Uncertain significance Single submitter
- ERAP1 p.Asp618Tyr Conflicting Single submitter
- ERAP1 p.Asp783Asn Uncertain significance Single submitter
- ERAP1 p.Gln358Glu Uncertain significance Single submitter
- ERAP1 p.Gln546Glu Uncertain significance Single submitter
- ERAP1 p.Glu547Val Uncertain significance Single submitter
- ERAP1 p.Glu655Lys Uncertain significance Single submitter
- ERAP1 p.Glu719Lys Uncertain significance Single submitter
- ERAP1 p.Glu890Ala Uncertain significance Single submitter
- ERAP1 p.Glu913Asp Uncertain significance Single submitter
- ERAP1 p.Gly264Arg Uncertain significance Single submitter
- ERAP1 p.Gly317Ser Uncertain significance Single submitter
- ERAP1 p.Gly775Ala Uncertain significance Single submitter
- ERAP1 p.Gly824Ala Uncertain significance Single submitter
- ERAP1 p.Gly845Ala Uncertain significance Single submitter
- ERAP1 p.Gly893Arg Uncertain significance Single submitter
- ERAP1 p.His564Arg Uncertain significance Single submitter
- ERAP1 p.Ile176Met Uncertain significance Single submitter
- ERAP1 p.Ile276Met Benign Single submitter
- ERAP1 p.Ile429Val Uncertain significance Single submitter
- ERAP1 p.Ile801Val Uncertain significance Single submitter
- ERAP1 p.Leu155Phe Uncertain significance Single submitter
- ERAP1 p.Leu394Met Uncertain significance Single submitter
- ERAP1 p.Leu54Val Uncertain significance Single submitter
- ERAP1 p.Leu591Phe Uncertain significance Single submitter
- ERAP1 p.Leu763Pro Uncertain significance Single submitter
- ERAP1 p.Lys458Glu Uncertain significance Single submitter
- ERAP1 p.Lys528Arg Benign Single submitter
- ERAP1 p.Lys788Glu Uncertain significance Single submitter
- ERAP1 p.Met432Ile Uncertain significance Single submitter
- ERAP1 p.Met671Lys Uncertain significance Single submitter
- ERAP1 p.Phe334Ser Uncertain significance Single submitter
- ERAP1 p.Pro119Thr Uncertain significance Single submitter
- ERAP1 p.Pro144Leu Likely benign Single submitter
- ERAP1 p.Pro211Arg Uncertain significance Single submitter
- ERAP1 p.Pro220Thr Uncertain significance Single submitter
- ERAP1 p.Pro273Leu Uncertain significance Single submitter
- ERAP1 p.Ser156Leu Uncertain significance Single submitter
- ERAP1 p.Ser263Thr Uncertain significance Single submitter
- ERAP1 p.Ser572Gly Uncertain significance Single submitter
- ERAP1 p.Ser778Gly Uncertain significance Single submitter
- ERAP1 p.Ser897Pro Uncertain significance Single submitter
- ERAP1 p.Ser935Gly Uncertain significance Single submitter
- ERAP1 p.Thr12Ile Benign Single submitter
- ERAP1 p.Thr571Ser Uncertain significance Single submitter
- ERAP1 p.Thr73Lys Uncertain significance Single submitter
- ERAP1 p.Thr73Met Uncertain significance Single submitter
- ERAP1 p.Tyr151Cys Uncertain significance Single submitter
- ERAP1 p.Tyr549Cys Uncertain significance Single submitter
- ERAP1 p.Val147Ala Uncertain significance Single submitter
- ERAP1 p.Val269Leu Uncertain significance Single submitter
- ERAP1 p.Val588Gly Benign Single submitter
- ERAP1 p.Val58Leu Uncertain significance Single submitter
- ERAP1 p.Val647Ile Benign Single submitter
All ERAP1 variants
Conflicting classifications of pathogenicity 1
- p.Asp618Tyr Single submitter ⚠
Benign 50
- p.Ala356= Multiple submitters
- p.Tyr789= Multiple submitters
- c.1189-10A>G Single submitter
- c.1452+18T>C Single submitter
- c.1524+89G>A Single submitter
- c.1525-59C>G Single submitter
- c.1680-28T>G Single submitter
- c.1680-7A>C Single submitter
- c.1760-40G>A Single submitter
- c.1943+121dup Single submitter
- c.1943+86T>C Single submitter
- c.2100+46_2100+47dup Single submitter
- c.2100+47_2100+48dup Single submitter
- c.2447+97C>T Single submitter
- c.2447+9G>A Single submitter
- c.2448-38C>T Single submitter
- c.2671-29T>A Single submitter
- c.2671-40G>A Single submitter
- c.524+40G>A Single submitter
- c.663+40A>G Single submitter
- c.*157_*172dup Single submitter
- c.*17A>C Single submitter
- c.*295A>C Single submitter
- c.*298_*299insCA Single submitter
- c.*321T>C Single submitter
- c.*95G>A Single submitter
- p.Ala637= Single submitter
- p.Arg127Pro Single submitter
- p.Arg725Gln Single submitter ⚠
- p.Asp406= Single submitter
- p.Asp575Asn Single submitter
- p.Cys743= Single submitter
- p.Gln730Glu Single submitter
- p.Gly346Asp Single submitter
- p.Gly539= Single submitter
- p.His417= Single submitter
- p.His68= Single submitter
- p.Ile276Met Single submitter ⚠
- p.Ile929= Single submitter
- p.Leu646= Single submitter
- p.Leu848= Single submitter
- p.Lys528Arg Single submitter ⚠
- p.Met349Val Single submitter
- p.Phe832= Single submitter
- p.Pro119= Single submitter
- p.Pro184Arg Single submitter
- p.Ser453= Single submitter
- p.Thr12Ile Single submitter ⚠
- p.Val588Gly Single submitter ⚠
- p.Val647Ile Single submitter ⚠
Benign/Likely benign 3
- p.Gly514Arg Multiple submitters
- p.Ser18= Multiple submitters
- p.Tyr57= Multiple submitters
Likely benign 19
- p.Ile915Thr Multiple submitters ⚠
- c.1760-4C>G Single submitter
- c.2100+9C>T Single submitter
- c.2671-9C>T Single submitter
- p.Ala556Thr Single submitter
- p.Arg887Trp Single submitter ⚠
- p.Asn810= Single submitter
- p.Asp406Asn Single submitter
- p.Gln851Lys Single submitter
- p.Gly493Arg Single submitter
- p.Leu933= Single submitter
- p.Pro144Leu Single submitter ⚠
- p.Ser156= Single submitter
- p.Ser340= Single submitter
- p.Thr72= Single submitter
- p.Val141= Single submitter
- p.Val58Ile Single submitter
- p.Val610= Single submitter
- p.Met319Val No assertion criteria long QT syndrome
Uncertain significance 101
- p.Ala178Ser Single submitter ⚠
- p.Ala187Gly Single submitter ⚠
- p.Ala228Ser Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala456Thr Single submitter ⚠
- p.Ala701Asp Single submitter ⚠
- p.Ala735Thr Single submitter ⚠
- p.Arg168Lys Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg41His Single submitter ⚠
- p.Arg579Gln Single submitter ⚠
- p.Arg746Lys Single submitter ⚠
- p.Asn321Lys Single submitter ⚠
- p.Asn642Asp Single submitter ⚠
- p.Asn880Lys Single submitter ⚠
- p.Asp618Asn Single submitter ⚠
- p.Asp766Asn Single submitter ⚠
- p.Asp783Asn Single submitter ⚠
- p.Cys404Arg Single submitter ⚠
- p.Cys907Phe Single submitter ⚠
- p.Gln358Glu Single submitter ⚠
- p.Gln546Glu Single submitter ⚠
- p.Glu354Asp Single submitter ⚠
- p.Glu547Val Single submitter ⚠
- p.Glu613Asp Single submitter ⚠
- p.Glu613Gln Single submitter ⚠
- p.Glu655Lys Single submitter ⚠
- p.Glu679Lys Single submitter ⚠
- p.Glu719Lys Single submitter ⚠
- p.Glu890Ala Single submitter ⚠
- p.Glu913Asp Single submitter ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly317Ser Single submitter ⚠
- p.Gly490Ala Single submitter ⚠
- p.Gly775Ala Single submitter ⚠
- p.Gly775Arg Single submitter ⚠
- p.Gly824Ala Single submitter ⚠
- p.Gly845Ala Single submitter ⚠
- p.Gly893Arg Single submitter ⚠
- p.His564Arg Single submitter ⚠
- p.Ile176Met Single submitter ⚠
- p.Ile429Val Single submitter ⚠
- p.Ile444Val Single submitter ⚠
- p.Ile649Thr Single submitter ⚠
- p.Ile801Val Single submitter ⚠
- p.Leu139Pro Single submitter ⚠
- p.Leu155Phe Single submitter ⚠
- p.Leu214Ile Single submitter ⚠
- p.Leu394Met Single submitter ⚠
- p.Leu54Val Single submitter ⚠
- p.Leu591Phe Single submitter ⚠
- p.Leu703Ile Single submitter ⚠
- p.Leu763Pro Single submitter ⚠
- p.Leu769Phe Single submitter ⚠
- p.Leu785Phe Single submitter ⚠
- p.Leu860Pro Single submitter ⚠
- p.Leu866Val Single submitter ⚠
- p.Lys458Glu Single submitter ⚠
- p.Lys788Glu Single submitter ⚠
- p.Lys937Thr Single submitter ⚠
- p.Met432Ile Single submitter ⚠
- p.Met447Val Single submitter ⚠
- p.Met494Ile Single submitter ⚠
- p.Met521Ile Single submitter ⚠
- p.Met671Lys Single submitter ⚠
- p.Met683Ile Single submitter ⚠
- p.Phe334Ser Single submitter ⚠
- p.Phe644Cys Single submitter ⚠
- p.Phe674Ile Single submitter ⚠
- p.Pro119Thr Single submitter ⚠
- p.Pro211Arg Single submitter ⚠
- p.Pro220Thr Single submitter ⚠
- p.Pro273Leu Single submitter ⚠
- p.Pro29Ser Single submitter ⚠
- p.Pro557Leu Single submitter ⚠
- p.Ser156Leu Single submitter ⚠
- p.Ser202Asn Single submitter ⚠
- p.Ser263Thr Single submitter ⚠
- p.Ser388Gly Single submitter ⚠
- p.Ser508Thr Single submitter ⚠
- p.Ser572Gly Single submitter ⚠
- p.Ser778Gly Single submitter ⚠
- p.Ser787Thr Single submitter ⚠
- p.Ser897Pro Single submitter ⚠
- p.Ser935Gly Single submitter ⚠
- p.Thr180Ala Single submitter ⚠
- p.Thr571Ser Single submitter ⚠
- p.Thr621fs Single submitter
- p.Thr73Lys Single submitter ⚠
- p.Thr73Met Single submitter ⚠
- p.Trp31Arg Single submitter ⚠
- p.Trp8Ser Single submitter ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr549Cys Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val265Ile Single submitter ⚠
- p.Val269Leu Single submitter ⚠
- p.Val565Ala Single submitter ⚠
- p.Val58Leu Single submitter ⚠
- p.Val737Met Single submitter ⚠
- p.Val767Met Single submitter ⚠