ELOA2 — 231 ClinVar variants

All ClinVar germline ELOA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

2 Benign · 33 Likely benign · 196 Uncertain significance

Full ELOA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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 143

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 54

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

All ELOA2 variants

Benign 2

p.Asp105Glu Single submitter
p.Gln106Arg Single submitter

Likely benign 33

p.Ala188Val Single submitter
p.Ala721= Single submitter
p.Arg293His Single submitter
p.Arg393= Single submitter
p.Arg393Gln Single submitter
p.Arg498Gln Single submitter
p.Arg506Gly Single submitter ⚠
p.Arg570Ile Single submitter
p.Arg81Pro Single submitter
p.Asp302His Single submitter
p.Cys157= Single submitter
p.Cys157Arg Single submitter
p.Cys643Tyr Single submitter
p.Gln275Pro Single submitter
p.Gln339Lys Single submitter
p.Gly291Ser Single submitter
p.His147Pro Single submitter
p.His9Arg Single submitter
p.Leu567= Single submitter
p.Lys218Glu Single submitter
p.Lys316Asn Single submitter
p.Lys572= Single submitter
p.Lys645Asn Single submitter
p.Met372Ile Single submitter
p.Pro451Leu Single submitter
p.Pro541Leu Single submitter
p.Pro612Arg Single submitter
p.Ser171Pro Single submitter
p.Thr198Ala Single submitter
p.Thr198Ser Single submitter
p.Thr359Lys Single submitter
p.Thr654Ala Single submitter
p.Tyr168His Single submitter

Uncertain significance 196

p.Ala132Thr Single submitter ⚠
p.Ala163Gly Single submitter ⚠
p.Ala170Asp Single submitter ⚠
p.Ala187Pro Single submitter ⚠
p.Ala187Ser Single submitter ⚠
p.Ala187Thr Single submitter ⚠
p.Ala219Thr Single submitter ⚠
p.Ala296Asp Single submitter ⚠
p.Ala300Asp Single submitter ⚠
p.Ala300Gly Single submitter ⚠
p.Ala414Glu Single submitter ⚠
p.Ala444Val Single submitter ⚠
p.Ala449Pro Single submitter ⚠
p.Ala45Glu Single submitter ⚠
p.Ala45Val Single submitter ⚠
p.Ala510Thr Single submitter ⚠
p.Ala675Gly Single submitter ⚠
p.Ala725Asp Single submitter ⚠
p.Ala731Val Single submitter ⚠
p.Arg149Cys Single submitter ⚠
p.Arg159Thr Single submitter ⚠
p.Arg167His Single submitter ⚠
p.Arg169Gln Single submitter ⚠
p.Arg169Leu Single submitter ⚠
p.Arg169Pro Single submitter ⚠
p.Arg174Leu Single submitter ⚠
p.Arg17Cys Single submitter ⚠
p.Arg231Cys Single submitter ⚠
p.Arg231Ser Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg530Cys Single submitter ⚠
p.Arg569Leu Single submitter ⚠
p.Arg57Trp Single submitter ⚠
p.Arg620Thr Single submitter ⚠
p.Arg627Leu Single submitter ⚠
p.Arg630His Single submitter ⚠
p.Arg695Gly Single submitter ⚠
p.Arg728Leu Single submitter ⚠
p.Arg728Trp Single submitter ⚠
p.Arg72Gln Single submitter ⚠
p.Arg72Trp Single submitter ⚠
p.Arg744Gln Single submitter ⚠
p.Arg748Gly Single submitter ⚠
p.Arg84Trp Single submitter ⚠
p.Arg96Gly Single submitter ⚠
p.Arg98His Single submitter ⚠
p.Arg98Pro Single submitter ⚠
p.Asn635Ser Single submitter ⚠
p.Asp343Glu Single submitter ⚠
p.Asp343His Single submitter ⚠
p.Asp357His Single submitter ⚠
p.Asp390His Single submitter ⚠
p.Asp425Glu Single submitter ⚠
p.Asp447Val Single submitter ⚠
p.Asp546Ala Single submitter ⚠
p.Asp582His Single submitter ⚠
p.Asp64Gly Single submitter ⚠
p.Asp68Asn Single submitter ⚠
p.Asp68Glu Single submitter ⚠
p.Asp696Glu Single submitter ⚠
p.Cys208Phe Single submitter ⚠
p.Cys211Ser Single submitter ⚠
p.Cys713Tyr Single submitter ⚠
p.Gln106Pro Single submitter ⚠
p.Gln15His Single submitter ⚠
p.Gln275His Single submitter ⚠
p.Gln347Glu Single submitter ⚠
p.Gln391Lys Single submitter ⚠
p.Gln442Leu Single submitter ⚠
p.Gln525Arg Single submitter ⚠
p.Gln535His Single submitter ⚠
p.Gln607Lys Single submitter ⚠
p.Glu12Gly Single submitter ⚠
p.Glu150Gln Single submitter ⚠
p.Glu150Gly Single submitter ⚠
p.Glu182Lys Single submitter ⚠
p.Glu299Asp Single submitter ⚠
p.Glu336Asp Single submitter ⚠
p.Glu338Asp Single submitter ⚠
p.Glu374Asp Single submitter ⚠
p.Glu435Gly Single submitter ⚠
p.Glu549Lys Single submitter ⚠
p.Glu560Lys Single submitter ⚠
p.Gly100Arg Single submitter ⚠
p.Gly111Ser Single submitter ⚠
p.Gly166Ser Single submitter ⚠
p.Gly203Asp Single submitter ⚠
p.Gly213Ser Single submitter ⚠
p.Gly285Glu Single submitter ⚠
p.Gly285Val Single submitter ⚠
p.Gly286Arg Single submitter ⚠
p.Gly322Ser Single submitter ⚠
p.Gly331Ser Single submitter ⚠
p.Gly349Ala Single submitter ⚠
p.Gly450Arg Single submitter ⚠
p.Gly63Ser Single submitter ⚠
p.His147Leu Single submitter ⚠
p.His244Arg Single submitter ⚠
p.His59Tyr Single submitter ⚠
p.His61Tyr Single submitter ⚠
p.Ile160Met Single submitter ⚠
p.Ile249Thr Single submitter ⚠
p.Ile43Thr Single submitter ⚠
p.Leu178Phe Single submitter ⚠
p.Leu237Phe Single submitter ⚠
p.Leu237Trp Single submitter ⚠
p.Leu258Phe Single submitter ⚠
p.Leu27Gln Single submitter ⚠
p.Leu297Ser Single submitter ⚠
p.Leu364His Single submitter ⚠
p.Leu37Phe Single submitter ⚠
p.Leu407Phe Single submitter ⚠
p.Leu430Ser Single submitter ⚠
p.Leu567Gln Single submitter ⚠
p.Leu584Val Single submitter ⚠
p.Lys108Asn Single submitter ⚠
p.Lys191Glu Single submitter ⚠
p.Lys218Arg Single submitter ⚠
p.Lys234Asn Single submitter ⚠
p.Lys283Arg Single submitter ⚠
p.Lys397Ile Single submitter ⚠
p.Lys418Arg Single submitter ⚠
p.Lys511Asn Single submitter ⚠
p.Lys649Arg Single submitter ⚠
p.Lys677Asn Single submitter ⚠
p.Lys747Met Single submitter ⚠
p.Met180Lys Single submitter ⚠
p.Met372Thr Single submitter ⚠
p.Met641Leu Single submitter ⚠
p.Met641Thr Single submitter ⚠
p.Phe279Tyr Single submitter ⚠
p.Pro119Ser Single submitter ⚠
p.Pro142His Single submitter ⚠
p.Pro151His Single submitter ⚠
p.Pro151Leu Single submitter ⚠
p.Pro181Arg Single submitter ⚠
p.Pro189Leu Single submitter ⚠
p.Pro215Thr Single submitter ⚠
p.Pro351Leu Single submitter ⚠
p.Pro379Leu Single submitter ⚠
p.Pro451Thr Single submitter ⚠
p.Pro476Leu Single submitter ⚠
p.Pro495Ser Single submitter ⚠
p.Pro513Leu Single submitter ⚠
p.Pro520Thr Single submitter ⚠
p.Pro564Leu Single submitter ⚠
p.Pro598Leu Single submitter ⚠
p.Pro651Leu Single submitter ⚠
p.Pro678Thr Single submitter ⚠
p.Pro712Ser Single submitter ⚠
p.Pro723Thr Single submitter ⚠
p.Ser165Cys Single submitter ⚠
p.Ser165Phe Single submitter ⚠
p.Ser245Cys Single submitter ⚠
p.Ser245Tyr Single submitter ⚠
p.Ser253Leu Single submitter ⚠
p.Ser277Trp Single submitter ⚠
p.Ser290Arg Single submitter ⚠
p.Ser290Asn Single submitter ⚠
p.Ser313Trp Single submitter ⚠
p.Ser426Trp Single submitter ⚠
p.Ser460Leu Single submitter ⚠
p.Ser545Cys Single submitter ⚠
p.Ser628Cys Single submitter ⚠
p.Ser628Tyr Single submitter ⚠
p.Ser676Phe Single submitter ⚠
p.Ser682Arg Single submitter ⚠
p.Ser687Ile Single submitter ⚠
p.Ser689Arg Single submitter ⚠
p.Ser700Arg Single submitter ⚠
p.Ser715Arg Single submitter ⚠
p.Ser751Thr Single submitter ⚠
p.Thr198Ile Single submitter ⚠
p.Thr22Ala Single submitter ⚠
p.Thr22Met Single submitter ⚠
p.Thr262Asn Single submitter ⚠
p.Thr281Arg Single submitter ⚠
p.Thr405Asn Single submitter ⚠
p.Thr52Met Single submitter ⚠
p.Thr603Ile Single submitter ⚠
p.Thr6Asn Single submitter ⚠
p.Trp73Cys Single submitter ⚠
p.Tyr552Cys Single submitter ⚠
p.Tyr568Cys Single submitter ⚠
p.Val294Ile Single submitter ⚠
p.Val370Ile Single submitter ⚠
p.Val433Ile Single submitter ⚠
p.Val433Leu Single submitter ⚠
p.Val454Leu Single submitter ⚠
p.Val547Glu Single submitter ⚠
p.Val547Met Single submitter ⚠
p.Val578Leu Single submitter ⚠
p.Val621Leu Single submitter ⚠
p.Val735Leu Single submitter ⚠
p.Val79Leu Single submitter ⚠
p.Ser123Pro No assertion criteria prostate cancer ⚠