ESD — 34 ClinVar variants
All ClinVar germline ESD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
2 Benign · 1 Benign/Likely benign · 31 Uncertain significance
Full ESD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESD p.Ala173Pro Uncertain significance Single submitter
- ESD p.Arg119Lys Uncertain significance Single submitter
- ESD p.Asp217Gly Uncertain significance Single submitter
- ESD p.Gly102Arg Uncertain significance Single submitter
- ESD p.Gly13Ala Uncertain significance Single submitter
- ESD p.Gly152Cys Uncertain significance Single submitter
- ESD p.Gly154Glu Uncertain significance Single submitter
- ESD p.His153Arg Uncertain significance Single submitter
- ESD p.His260Arg Uncertain significance Single submitter
- ESD p.Leu160Ser Uncertain significance Single submitter
- ESD p.Met120Ile Uncertain significance Single submitter
- ESD p.Met150Thr Uncertain significance Single submitter
- ESD p.Ser210Ala Uncertain significance Single submitter
- ESD p.Trp183Cys Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ESD p.Ala242Val Uncertain significance Single submitter
- ESD p.Ala33Gly Uncertain significance Single submitter
- ESD p.Arg253Gln Uncertain significance Single submitter
- ESD p.Asn135Ser Uncertain significance Single submitter
- ESD p.Gly213Arg Uncertain significance Single submitter
- ESD p.Gly232Ala Uncertain significance Single submitter
- ESD p.Ile157Met Uncertain significance Single submitter
- ESD p.Ile175Val Uncertain significance Single submitter
- ESD p.Ile265Thr Uncertain significance Single submitter
- ESD p.Ile62Val Uncertain significance Single submitter
- ESD p.Leu180Phe Uncertain significance Single submitter
- ESD p.Leu207Ile Uncertain significance Single submitter
- ESD p.Lys247Thr Uncertain significance Single submitter
- ESD p.Met143Leu Uncertain significance Single submitter
- ESD p.Pro38Arg Uncertain significance Single submitter
- ESD p.Thr57Ala Uncertain significance Single submitter
- ESD p.Val250Ile Uncertain significance Single submitter
All ESD variants
Benign 2
- p.Asp271= Multiple submitters
- p.Asp231Gly Single submitter
Benign/Likely benign 1
- p.Thr116= Multiple submitters
Uncertain significance 31
- p.Ala173Pro Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala33Gly Single submitter ⚠
- p.Arg119Lys Single submitter ⚠
- p.Arg253Gln Single submitter ⚠
- p.Asn135Ser Single submitter ⚠
- p.Asp217Gly Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly13Ala Single submitter ⚠
- p.Gly152Cys Single submitter ⚠
- p.Gly154Glu Single submitter ⚠
- p.Gly213Arg Single submitter ⚠
- p.Gly232Ala Single submitter ⚠
- p.His153Arg Single submitter ⚠
- p.His260Arg Single submitter ⚠
- p.Ile157Met Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile265Thr Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Leu160Ser Single submitter ⚠
- p.Leu180Phe Single submitter ⚠
- p.Leu207Ile Single submitter ⚠
- p.Lys247Thr Single submitter ⚠
- p.Met120Ile Single submitter ⚠
- p.Met143Leu Single submitter ⚠
- p.Met150Thr Single submitter ⚠
- p.Pro38Arg Single submitter ⚠
- p.Ser210Ala Single submitter ⚠
- p.Thr57Ala Single submitter ⚠
- p.Trp183Cys Single submitter ⚠
- p.Val250Ile Single submitter ⚠