ESYT1 — 187 ClinVar variants

All ClinVar germline ESYT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

4 Benign · 4 Likely benign · 179 Uncertain significance

Full ESYT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 134

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

Predictors split 36

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

All ESYT1 variants

Benign 4

p.Ala528= Multiple submitters
p.Ile707= Multiple submitters
p.Leu82= Multiple submitters
p.Thr607= Multiple submitters

Likely benign 4

p.Ala29Thr Single submitter
p.His690Arg Single submitter
p.Met14Val Single submitter
p.Val844Ile Single submitter

Uncertain significance 179

c.1474-26T>C Single submitter
c.1474-28G>A Single submitter
c.1474-6C>T Single submitter
p.Ala455Ser Single submitter ⚠
p.Ala53Glu Single submitter ⚠
p.Ala661Thr Single submitter ⚠
p.Ala73Thr Single submitter ⚠
p.Ala951Gly Single submitter ⚠
p.Arg1003His Single submitter ⚠
p.Arg100Gln Single submitter ⚠
p.Arg100Gly Single submitter ⚠
p.Arg1020Gln Single submitter ⚠
p.Arg103Gly Single submitter ⚠
p.Arg1070His Single submitter ⚠
p.Arg183Leu Single submitter
p.Arg192Cys Single submitter ⚠
p.Arg192Leu Single submitter ⚠
p.Arg244Trp Single submitter ⚠
p.Arg267Cys Single submitter ⚠
p.Arg307Gln Single submitter ⚠
p.Arg332Gln Single submitter ⚠
p.Arg339Gln Single submitter ⚠
p.Arg363Cys Single submitter ⚠
p.Arg363His Single submitter ⚠
p.Arg372His Single submitter ⚠
p.Arg486Gln Single submitter ⚠
p.Arg530Trp Single submitter ⚠
p.Arg563Cys Single submitter ⚠
p.Arg563His Single submitter ⚠
p.Arg586Gly Single submitter
p.Arg594Lys Single submitter ⚠
p.Arg633Gln Single submitter ⚠
p.Arg650Gln Single submitter ⚠
p.Arg664His Single submitter ⚠
p.Arg685Gln Single submitter ⚠
p.Arg699Cys Single submitter ⚠
p.Arg699His Single submitter ⚠
p.Arg699Ser Single submitter ⚠
p.Arg760His Single submitter ⚠
p.Arg764His Single submitter ⚠
p.Arg771Cys Single submitter ⚠
p.Arg771Gly Single submitter ⚠
p.Arg771His Single submitter ⚠
p.Arg806Leu Single submitter ⚠
p.Arg866Gln Single submitter ⚠
p.Arg907Lys Single submitter ⚠
p.Arg955Trp Single submitter ⚠
p.Arg957Cys Single submitter ⚠
p.Arg95Cys Single submitter ⚠
p.Arg999Gln Single submitter ⚠
p.Asn500Lys Single submitter ⚠
p.Asn701His Single submitter ⚠
p.Asp1007Gly Single submitter ⚠
p.Asp282Glu Single submitter ⚠
p.Asp291His Single submitter ⚠
p.Asp296Asn Single submitter
p.Asp404Asn Single submitter ⚠
p.Asp509Asn Single submitter ⚠
p.Asp535Glu Single submitter ⚠
p.Asp695Tyr Single submitter ⚠
p.Asp722Glu Single submitter ⚠
p.Asp809Gly Single submitter ⚠
p.Asp892His Single submitter ⚠
p.Asp96Asn Single submitter ⚠
p.Asp96Gly Single submitter ⚠
p.Cys611Phe Single submitter ⚠
p.Gln114His Single submitter ⚠
p.Gln206His Single submitter
p.Gln425His Single submitter ⚠
p.Gln439Pro Single submitter ⚠
p.Gln534Arg Single submitter ⚠
p.Gln534His Single submitter ⚠
p.Gln534Pro Single submitter ⚠
p.Gln714Arg Single submitter ⚠
p.Gln788Glu Single submitter ⚠
p.Gln839Arg Single submitter ⚠
p.Gln839Lys Single submitter ⚠
p.Glu1069Asp Single submitter ⚠
p.Glu1082Gln Single submitter ⚠
p.Glu126Gly Single submitter ⚠
p.Glu188Asp Single submitter ⚠
p.Glu224Ala Single submitter ⚠
p.Glu353Gly Single submitter ⚠
p.Glu384Gln Single submitter ⚠
p.Glu392Lys Single submitter ⚠
p.Glu779Ala Single submitter ⚠
p.Glu7Lys Single submitter ⚠
p.Gly1002Arg Single submitter ⚠
p.Gly187Val Single submitter ⚠
p.Gly329Asp Single submitter ⚠
p.Gly437Ser Single submitter ⚠
p.Gly438Glu Single submitter ⚠
p.Gly46Ala Single submitter ⚠
p.Gly495Glu Single submitter
p.Gly49Cys Single submitter ⚠
p.Gly582Val Single submitter ⚠
p.Gly613Asp Single submitter ⚠
p.Gly667Arg Single submitter ⚠
p.Gly970Arg Single submitter ⚠
p.His124Arg Single submitter ⚠
p.His443Tyr Single submitter ⚠
p.His917Asp Single submitter ⚠
p.Ile193Val Single submitter ⚠
p.Ile194Thr Single submitter ⚠
p.Ile251Thr Single submitter ⚠
p.Ile374Thr Single submitter ⚠
p.Ile660Thr Single submitter ⚠
p.Ile947Phe Single submitter ⚠
p.Leu1015Pro Single submitter ⚠
p.Leu1033Pro Single submitter ⚠
p.Leu142Val Single submitter ⚠
p.Leu161Val Single submitter ⚠
p.Leu176Met Single submitter ⚠
p.Leu429Met Single submitter ⚠
p.Leu598Trp Single submitter ⚠
p.Leu654Ser Single submitter ⚠
p.Leu777Ile Single submitter ⚠
p.Leu863Phe Single submitter ⚠
p.Leu979Pro Single submitter ⚠
p.Lys1030Asn Single submitter ⚠
p.Lys1030Thr Single submitter ⚠
p.Lys197Thr Single submitter ⚠
p.Lys494Asn Single submitter ⚠
p.Lys673Arg Single submitter ⚠
p.Lys681Gln Single submitter ⚠
p.Met262Leu Single submitter ⚠
p.Met262Val Single submitter ⚠
p.Met416Ile Single submitter ⚠
p.Phe264Leu Single submitter ⚠
p.Phe532Val Single submitter ⚠
p.Phe643Cys Single submitter ⚠
p.Pro1005Leu Single submitter ⚠
p.Pro1005Ser Single submitter ⚠
p.Pro13Leu Single submitter ⚠
p.Pro268Leu Single submitter ⚠
p.Pro28Arg Single submitter ⚠
p.Pro28Ser Single submitter ⚠
p.Pro407Ala Single submitter ⚠
p.Pro434Ser Single submitter ⚠
p.Pro5Ser Single submitter ⚠
p.Pro712Ser Single submitter ⚠
p.Pro811Leu Single submitter ⚠
p.Pro856Leu Single submitter
p.Pro952Arg Single submitter ⚠
p.Ser101Gly Single submitter ⚠
p.Ser12Asn Single submitter ⚠
p.Ser287Arg Single submitter ⚠
p.Ser469Pro Single submitter ⚠
p.Ser580Ile Single submitter ⚠
p.Ser627Gly Single submitter ⚠
p.Ser689Arg Single submitter ⚠
p.Ser848Ile Single submitter ⚠
p.Ser928Gly Single submitter ⚠
p.Ser935Arg Single submitter ⚠
p.Ser941Leu Single submitter ⚠
p.Thr520Ile Single submitter ⚠
p.Thr553Ile Single submitter ⚠
p.Thr637Met Single submitter ⚠
p.Thr826Ile Single submitter ⚠
p.Thr858Ala Single submitter ⚠
p.Trp432Leu Single submitter ⚠
p.Tyr121Cys Single submitter ⚠
p.Tyr982His Single submitter ⚠
p.Val1089Ile Single submitter ⚠
p.Val136Met Single submitter ⚠
p.Val149Ala Single submitter ⚠
p.Val216Ala Single submitter ⚠
p.Val242Ile Single submitter ⚠
p.Val242Phe Single submitter ⚠
p.Val303Leu Single submitter ⚠
p.Val362Leu Single submitter ⚠
p.Val373Phe Single submitter ⚠
p.Val428Ile Single submitter ⚠
p.Val482Ile Single submitter ⚠
p.Val510Met Single submitter ⚠
p.Val708Ile Single submitter ⚠
p.Val718Ala Single submitter ⚠
p.Val78Met Single submitter ⚠
p.Val885Met Single submitter ⚠