ESYT2 — 153 ClinVar variants

All ClinVar germline ESYT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

1 Conflicting · 6 Likely benign · 146 Uncertain significance

Full ESYT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ESYT2 p.Ile653Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 86

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

Predictors split 40

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

All ESYT2 variants

Conflicting classifications of pathogenicity 1

p.Ile653Thr Single submitter ⚠

Likely benign 6

c.747+5618_747+5619insA Single submitter
p.Arg605Gln Single submitter
p.His676Arg Single submitter
p.Ser395= Single submitter
p.Thr860= Single submitter
p.Val166Met Single submitter

Uncertain significance 146

c.26C>T Single submitter
c.43C>G Single submitter
c.-17C>G Single submitter
c.-38C>T Single submitter ⚠
c.-41A>C Single submitter ⚠
c.-55C>G Single submitter
c.-59G>A Single submitter ⚠
c.-62C>G Single submitter ⚠
c.-84C>T Single submitter
c.-87G>C Single submitter ⚠
c.-90G>C Single submitter
p.Ala148Val Single submitter ⚠
p.Ala16Ser Single submitter
p.Ala4Asp Single submitter
p.Ala4Thr Single submitter
p.Ala66Pro Single submitter ⚠
p.Ala710Thr Single submitter ⚠
p.Ala71Gly Single submitter ⚠
p.Ala754Val Single submitter ⚠
p.Ala9Glu Single submitter
p.Ala9Thr Single submitter
p.Arg150Gln Single submitter ⚠
p.Arg150Trp Single submitter ⚠
p.Arg212Gly Single submitter ⚠
p.Arg521Gln Single submitter ⚠
p.Arg542Cys Single submitter ⚠
p.Arg579Cys Single submitter ⚠
p.Arg579Pro Single submitter ⚠
p.Arg5Gln Single submitter
p.Arg5Pro Single submitter
p.Arg715Trp Single submitter ⚠
p.Arg784Lys Single submitter ⚠
p.Arg83Cys Single submitter ⚠
p.Arg99Pro Single submitter ⚠
p.Asn281Asp Single submitter ⚠
p.Asn357Thr Single submitter ⚠
p.Asn502Ser Single submitter ⚠
p.Asn539Ser Single submitter ⚠
p.Asn560Ser Single submitter ⚠
p.Asp165Asn Single submitter ⚠
p.Asp320Tyr Single submitter ⚠
p.Asp440Tyr Single submitter ⚠
p.Asp677Asn Single submitter ⚠
p.Asp816Tyr Single submitter ⚠
p.Cys200Arg Single submitter ⚠
p.Gln168Arg Single submitter ⚠
p.Gln376Lys Single submitter ⚠
p.Glu229Ala Single submitter ⚠
p.Glu229Asp Single submitter ⚠
p.Glu379Val Single submitter ⚠
p.Glu417Lys Single submitter ⚠
p.Glu552Lys Single submitter ⚠
p.Glu696Gly Single submitter ⚠
p.Glu809Gln Single submitter ⚠
p.Glu844Lys Single submitter ⚠
p.Glu94Gln Single submitter ⚠
p.Gly101Trp Single submitter ⚠
p.Gly10Ala Single submitter
p.Gly12Ser Single submitter
p.Gly18Ser Single submitter
p.Gly35Arg Single submitter ⚠
p.Gly456Ser Single submitter ⚠
p.Gly626Arg Single submitter ⚠
p.Gly640Asp Single submitter ⚠
p.Gly6Ser Single submitter
p.Gly765Ser Single submitter ⚠
p.Gly824Ser Single submitter ⚠
p.His221Arg Single submitter ⚠
p.His373Gln Single submitter ⚠
p.His373Tyr Single submitter ⚠
p.His691Arg Single submitter ⚠
p.Ile145Val Single submitter ⚠
p.Ile243Val Single submitter ⚠
p.Ile299Val Single submitter ⚠
p.Ile313Leu Single submitter ⚠
p.Ile537Val Single submitter ⚠
p.Ile709Val Single submitter ⚠
p.Leu427Val Single submitter ⚠
p.Leu472Phe Single submitter ⚠
p.Leu48Met Single submitter ⚠
p.Leu675Gln Single submitter ⚠
p.Leu678Val Single submitter ⚠
p.Leu67Phe Single submitter ⚠
p.Leu732Met Single submitter ⚠
p.Leu832Pro Single submitter ⚠
p.Leu88Pro Single submitter ⚠
p.Lys324Arg Single submitter ⚠
p.Lys324Ile Single submitter ⚠
p.Lys361Glu Single submitter ⚠
p.Lys498Asn Single submitter ⚠
p.Lys618Arg Single submitter ⚠
p.Lys80Gln Single submitter ⚠
p.Lys80Glu Single submitter ⚠
p.Met129Val Single submitter ⚠
p.Met1Ile Single submitter
p.Met235Arg Single submitter ⚠
p.Met397Thr Single submitter ⚠
p.Met635Arg Single submitter ⚠
p.Phe159Val Single submitter ⚠
p.Phe304Leu Single submitter ⚠
p.Phe383Leu Single submitter ⚠
p.Phe44Leu Single submitter ⚠
p.Phe580Leu Single submitter ⚠
p.Phe60Val Single submitter ⚠
p.Phe825Leu Single submitter ⚠
p.Pro114Leu Single submitter ⚠
p.Pro170Leu Single submitter ⚠
p.Pro265Leu Single submitter ⚠
p.Pro374Ser Single submitter ⚠
p.Pro387Arg Single submitter ⚠
p.Pro503Ala Single submitter ⚠
p.Pro564Arg Single submitter ⚠
p.Pro609Ser Single submitter ⚠
p.Pro667Arg Single submitter ⚠
p.Pro667Ser Single submitter ⚠
p.Pro862Ser Single submitter ⚠
p.Ser14Asn Single submitter
p.Ser557Cys Single submitter ⚠
p.Ser583Asn Single submitter ⚠
p.Ser585Leu Single submitter ⚠
p.Ser59Arg Single submitter ⚠
p.Ser638Tyr Single submitter ⚠
p.Ser649Ala Single submitter ⚠
p.Ser688Phe Single submitter ⚠
p.Ser706Leu Single submitter ⚠
p.Ser76Ile Single submitter ⚠
p.Ser806Leu Single submitter ⚠
p.Ser822Gly Single submitter ⚠
p.Thr273Ser Single submitter ⚠
p.Thr590Ser Single submitter ⚠
p.Thr711Ser Single submitter ⚠
p.Thr814Met Single submitter ⚠
p.Trp849Cys Single submitter ⚠
p.Tyr339Cys Single submitter ⚠
p.Tyr339Phe Single submitter ⚠
p.Tyr769Cys Single submitter ⚠
p.Val126Ile Single submitter ⚠
p.Val149Leu Single submitter ⚠
p.Val16Ile Single submitter
p.Val183Gly Single submitter ⚠
p.Val197Ile Single submitter ⚠
p.Val284Leu Single submitter ⚠
p.Val547Phe Single submitter ⚠
p.Val599Ala Single submitter ⚠
p.Val750Met Single submitter ⚠
p.Val817Ile Single submitter ⚠