ESYT3 — 134 ClinVar variants

All ClinVar germline ESYT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →

6 Likely benign · 128 Uncertain significance

Full ESYT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 120

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 100

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

Predictors split 20

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

All ESYT3 variants

Likely benign 6

p.Arg384Lys Single submitter
p.Arg752Gln Single submitter
p.Asn521Ser Single submitter
p.Cys36Tyr Single submitter
p.Gln104Leu Single submitter
p.Thr278Ala Single submitter

Uncertain significance 128

p.Ala121Thr Single submitter ⚠
p.Ala210Asp Single submitter ⚠
p.Ala261Val Single submitter ⚠
p.Ala523Thr Single submitter ⚠
p.Ala654Gly Single submitter ⚠
p.Ala732Val Single submitter ⚠
p.Arg141Trp Single submitter ⚠
p.Arg185Ser Single submitter ⚠
p.Arg186Leu Single submitter ⚠
p.Arg222Gln Single submitter ⚠
p.Arg285Cys Single submitter ⚠
p.Arg285His Single submitter ⚠
p.Arg345Gln Single submitter ⚠
p.Arg345Trp Single submitter ⚠
p.Arg421Trp Single submitter ⚠
p.Arg561Cys Single submitter ⚠
p.Arg580Gln Single submitter ⚠
p.Arg580Trp Single submitter
p.Arg587Gln Single submitter ⚠
p.Arg642Gly Single submitter ⚠
p.Arg642Ser Single submitter ⚠
p.Arg73Leu Single submitter ⚠
p.Arg752Ter Single submitter
p.Arg753Trp Single submitter ⚠
p.Arg768Trp Single submitter ⚠
p.Arg769Cys Single submitter ⚠
p.Arg769His Single submitter ⚠
p.Arg806Cys Single submitter
p.Arg806His Single submitter
p.Arg813Gln Single submitter ⚠
p.Arg836Lys Single submitter ⚠
p.Arg94Cys Single submitter ⚠
p.Asn257Lys Single submitter ⚠
p.Asn257Ser Single submitter ⚠
p.Asn323Thr Single submitter ⚠
p.Asn612Ile Single submitter ⚠
p.Asn729Ser Single submitter ⚠
p.Asn92Ser Single submitter ⚠
p.Asp260Ala Single submitter ⚠
p.Asp379Gly Single submitter ⚠
p.Asp385Glu Single submitter ⚠
p.Asp405Gly Single submitter ⚠
p.Asp565Gly Single submitter ⚠
p.Asp632Gly Single submitter ⚠
p.Asp740Ala Single submitter ⚠
p.Cys169Tyr Single submitter ⚠
p.Cys394Tyr Single submitter ⚠
p.Cys454Arg Single submitter ⚠
p.Cys766Trp Single submitter ⚠
p.Cys778Arg Single submitter ⚠
p.Cys784Tyr Single submitter ⚠
p.Gln342Arg Single submitter ⚠
p.Gln431Lys Single submitter ⚠
p.Gln613Glu Single submitter ⚠
p.Gln660fs Single submitter
p.Glu367Gln Single submitter ⚠
p.Glu436Lys Single submitter ⚠
p.Glu467Gln Single submitter ⚠
p.Gly10Trp Single submitter ⚠
p.Gly174Ser Single submitter ⚠
p.Gly22Asp Single submitter ⚠
p.Gly263Ala Single submitter ⚠
p.Gly439Asp Single submitter ⚠
p.Gly53Val Single submitter ⚠
p.Gly568Asp Single submitter ⚠
p.Gly680Arg Single submitter ⚠
p.His154Pro Single submitter ⚠
p.His438Tyr Single submitter ⚠
p.His520Tyr Single submitter ⚠
p.Ile148Val Single submitter ⚠
p.Ile196Met Single submitter ⚠
p.Ile201fs Single submitter
p.Ile201Met Single submitter ⚠
p.Ile606Leu Single submitter ⚠
p.Ile679Phe Single submitter ⚠
p.Ile688Val Single submitter ⚠
p.Leu275Arg Single submitter ⚠
p.Leu299Met Single submitter ⚠
p.Leu299Val Single submitter ⚠
p.Leu377Val Single submitter ⚠
p.Leu395Val Single submitter ⚠
p.Leu540Arg Single submitter ⚠
p.Leu564Pro Single submitter ⚠
p.Leu605His Single submitter ⚠
p.Lys490Asn Single submitter ⚠
p.Lys496Asn Single submitter ⚠
p.Lys854Arg Single submitter ⚠
p.Met830Thr Single submitter ⚠
p.Phe242Val Single submitter ⚠
p.Phe820Ser Single submitter ⚠
p.Phe826Cys Single submitter ⚠
p.Phe87Val Single submitter ⚠
p.Pro113Gln Single submitter
p.Pro23Thr Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Pro457Ser Single submitter ⚠
p.Pro504Leu Single submitter ⚠
p.Pro546Ser Single submitter ⚠
p.Pro552Leu Single submitter ⚠
p.Pro630Thr Single submitter ⚠
p.Pro717Leu Single submitter ⚠
p.Ser126Phe Single submitter ⚠
p.Ser346Thr Single submitter ⚠
p.Ser684Gly Single submitter ⚠
p.Ser733Ala Single submitter ⚠
p.Ser733Phe Single submitter ⚠
p.Thr181Met Single submitter ⚠
p.Thr188Ala Single submitter ⚠
p.Thr348Ile Single submitter ⚠
p.Thr356Ile Single submitter ⚠
p.Thr502Asn Single submitter ⚠
p.Thr557Ala Single submitter ⚠
p.Thr594Ile Single submitter ⚠
p.Thr646Ala Single submitter ⚠
p.Thr651Pro Single submitter ⚠
p.Thr658Ile Single submitter ⚠
p.Thr691Ile Single submitter ⚠
p.Thr823Ala Single submitter ⚠
p.Tyr764Cys Single submitter
p.Val398Ile Single submitter ⚠
p.Val409Phe Single submitter ⚠
p.Val447Leu Single submitter ⚠
p.Val447Met Single submitter ⚠
p.Val49Leu Single submitter ⚠
p.Val584Leu Single submitter ⚠
p.Val640Ile Single submitter ⚠
p.Val653Ile Single submitter ⚠
p.Val840Phe Single submitter ⚠