ESS2 — 116 ClinVar variants
All ClinVar germline ESS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
5 Benign · 1 Benign/Likely benign · 10 Likely benign · 100 Uncertain significance
Full ESS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ESS2 p.Ala115Gly Uncertain significance Single submitter
- ESS2 p.Ala115Val Uncertain significance Single submitter
- ESS2 p.Ala136Thr Uncertain significance Single submitter
- ESS2 p.Ala443Val Uncertain significance Single submitter
- ESS2 p.Ala457Ser Uncertain significance Single submitter
- ESS2 p.Ala472Pro Uncertain significance Single submitter
- ESS2 p.Ala71Gly Uncertain significance Single submitter
- ESS2 p.Ala90Thr Uncertain significance Single submitter
- ESS2 p.Arg129Gln Uncertain significance Single submitter
- ESS2 p.Arg18Thr Uncertain significance Single submitter
- ESS2 p.Arg294Gln Uncertain significance Single submitter
- ESS2 p.Arg354Trp Uncertain significance Single submitter
- ESS2 p.Arg412Gln Uncertain significance Single submitter
- ESS2 p.Arg415Trp Uncertain significance Single submitter
- ESS2 p.Arg469Trp Uncertain significance Single submitter
- ESS2 p.Asn122Ser Uncertain significance Single submitter
- ESS2 p.Asn272Ser Uncertain significance Single submitter
- ESS2 p.Asn381Ser Uncertain significance Single submitter
- ESS2 p.Asp133Glu Uncertain significance Single submitter
- ESS2 p.Gln454Arg Uncertain significance Single submitter
- ESS2 p.Glu197Asp Uncertain significance Single submitter
- ESS2 p.Glu197Lys Uncertain significance Single submitter
- ESS2 p.Glu202Gln Uncertain significance Single submitter
- ESS2 p.Glu24Gly Uncertain significance Single submitter
- ESS2 p.Glu320Gly Uncertain significance Single submitter
- ESS2 p.Glu40Asp Uncertain significance Single submitter
- ESS2 p.Gly128Ser Uncertain significance Single submitter
- ESS2 p.Gly341Ser Uncertain significance Single submitter
- ESS2 p.Gly434Arg Uncertain significance Single submitter
- ESS2 p.His246Pro Uncertain significance Single submitter
- ESS2 p.His427Gln Uncertain significance Single submitter
- ESS2 p.Ile206Thr Uncertain significance Single submitter
- ESS2 p.Leu390Val Uncertain significance Single submitter
- ESS2 p.Leu47Phe Uncertain significance Single submitter
- ESS2 p.Lys93Glu Uncertain significance Single submitter
- ESS2 p.Met359Val Uncertain significance Single submitter
- ESS2 p.Pro144Leu Uncertain significance Single submitter
- ESS2 p.Pro19Thr Uncertain significance Single submitter
- ESS2 p.Pro306Thr Uncertain significance Single submitter
- ESS2 p.Pro308Ser Uncertain significance Single submitter
- ESS2 p.Pro314Leu Uncertain significance Single submitter
- ESS2 p.Pro387Arg Uncertain significance Single submitter
- ESS2 p.Pro387Leu Uncertain significance Single submitter
- ESS2 p.Pro387Thr Uncertain significance Single submitter
- ESS2 p.Pro57Leu Uncertain significance Single submitter
- ESS2 p.Ser257Asn Uncertain significance Single submitter
- ESS2 p.Ser9Pro Uncertain significance Single submitter
- ESS2 p.Thr215Ile Uncertain significance Single submitter
- ESS2 p.Thr249Met Uncertain significance Single submitter
- ESS2 p.Thr448Ser Uncertain significance Single submitter
- ESS2 p.Thr49Met Uncertain significance Single submitter
- ESS2 p.Thr49Ser Uncertain significance Single submitter
- ESS2 p.Tyr102Cys Uncertain significance Single submitter
- ESS2 p.Val336Leu Uncertain significance Single submitter
- ESS2 p.Val378Ala Uncertain significance Single submitter
- ESS2 p.Val50Ala Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- ESS2 p.Arg175Gln Uncertain significance Multiple submitters
- ESS2 p.Glu234Lys Benign Multiple submitters
- ESS2 p.Ala179Thr Uncertain significance Single submitter
- ESS2 p.Ala220Val Uncertain significance Single submitter
- ESS2 p.Ala31Val Benign Single submitter
- ESS2 p.Ala432Val Uncertain significance Single submitter
- ESS2 p.Ala6Val Uncertain significance Single submitter
- ESS2 p.Arg127Cys Uncertain significance Single submitter
- ESS2 p.Arg127His Uncertain significance Single submitter
- ESS2 p.Arg154Cys Uncertain significance Single submitter
- ESS2 p.Arg154His Uncertain significance Single submitter
- ESS2 p.Arg177Cys Uncertain significance Single submitter
- ESS2 p.Arg250His Uncertain significance Single submitter
- ESS2 p.Arg351His Uncertain significance Single submitter
- ESS2 p.Arg412Trp Uncertain significance Single submitter
- ESS2 p.Arg424His Uncertain significance Single submitter
- ESS2 p.Arg470Cys Uncertain significance Single submitter
- ESS2 p.Arg470His Uncertain significance Single submitter
- ESS2 p.Arg79Trp Uncertain significance Single submitter
- ESS2 p.Arg96Trp Uncertain significance Single submitter
- ESS2 p.Asp411Asn Uncertain significance Single submitter
- ESS2 p.Gln192Arg Uncertain significance Single submitter
- ESS2 p.Glu132Val Uncertain significance Single submitter
- ESS2 p.Glu165Asp Uncertain significance Single submitter
- ESS2 p.Glu312Lys Uncertain significance Single submitter
- ESS2 p.Glu72Lys Uncertain significance Single submitter
- ESS2 p.His178Arg Uncertain significance Single submitter
- ESS2 p.His178Gln Uncertain significance Single submitter
- ESS2 p.Leu13Ile Uncertain significance Single submitter
- ESS2 p.Leu148Val Uncertain significance Single submitter
- ESS2 p.Leu271Phe Uncertain significance Single submitter
- ESS2 p.Pro199Leu Uncertain significance Single submitter
- ESS2 p.Ser10Cys Uncertain significance Single submitter
- ESS2 p.Ser446Phe Uncertain significance Single submitter
- ESS2 p.Ser7Leu Uncertain significance Single submitter
- ESS2 p.Ser9Leu Uncertain significance Single submitter
- ESS2 p.Ser9Trp Uncertain significance Single submitter
- ESS2 p.Thr303Ala Uncertain significance Single submitter
- ESS2 p.Thr333Ala Uncertain significance Single submitter
- ESS2 p.Thr333Met Uncertain significance Single submitter
- ESS2 p.Thr3Arg Uncertain significance Single submitter
- ESS2 p.Thr405Met Uncertain significance Single submitter
- ESS2 p.Thr426Ile Uncertain significance Single submitter
- ESS2 p.Thr450Ile Uncertain significance Single submitter
- ESS2 p.Tyr335His Uncertain significance Single submitter
All ESS2 variants
Benign 5
- p.Asn311= Multiple submitters
- p.Glu234Lys Multiple submitters ⚠
- p.Pro99Leu Multiple submitters
- p.Ser7Ala Multiple submitters
- p.Ala31Val Single submitter ⚠
Benign/Likely benign 1
- p.Lys66= Multiple submitters
Likely benign 10
- p.His178= Multiple submitters
- p.Thr460= Multiple submitters
- c.688+6T>C Single submitter
- c.926-6C>T Single submitter
- p.Ala170= Single submitter
- p.Arg127= Single submitter
- p.Arg173Lys Single submitter
- p.Pro111= Single submitter
- p.Pro228= Single submitter
- p.Ser331= Single submitter
Uncertain significance 100
- p.Arg175Gln Multiple submitters ⚠
- p.Ala115Gly Single submitter ⚠
- p.Ala115Val Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala432Val Single submitter ⚠
- p.Ala443Val Single submitter ⚠
- p.Ala457Ser Single submitter ⚠
- p.Ala472Pro Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala71Gly Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg127Cys Single submitter ⚠
- p.Arg127His Single submitter ⚠
- p.Arg129Gln Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg154His Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg18Thr Single submitter ⚠
- p.Arg250His Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg351His Single submitter ⚠
- p.Arg354Trp Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg415Trp Single submitter ⚠
- p.Arg424His Single submitter ⚠
- p.Arg469Trp Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg79Trp Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn122Ser Single submitter ⚠
- p.Asn272Ser Single submitter ⚠
- p.Asn381Ser Single submitter ⚠
- p.Asp133Glu Single submitter ⚠
- p.Asp411Asn Single submitter ⚠
- p.Gln192Arg Single submitter ⚠
- p.Gln454Arg Single submitter ⚠
- p.Glu132Val Single submitter ⚠
- p.Glu165Asp Single submitter ⚠
- p.Glu197Asp Single submitter ⚠
- p.Glu197Lys Single submitter ⚠
- p.Glu202Gln Single submitter ⚠
- p.Glu24Gly Single submitter ⚠
- p.Glu312Lys Single submitter ⚠
- p.Glu320Gly Single submitter ⚠
- p.Glu332fs Single submitter
- p.Glu40Asp Single submitter ⚠
- p.Glu72Lys Single submitter ⚠
- p.Gly128Ser Single submitter ⚠
- p.Gly341Ser Single submitter ⚠
- p.Gly434Arg Single submitter ⚠
- p.His178Arg Single submitter ⚠
- p.His178Gln Single submitter ⚠
- p.His246Pro Single submitter ⚠
- p.His427Gln Single submitter ⚠
- p.Ile206Thr Single submitter ⚠
- p.Leu13Ile Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Leu271Phe Single submitter ⚠
- p.Leu390Val Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Lys93Glu Single submitter ⚠
- p.Met359Val Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Pro199Leu Single submitter ⚠
- p.Pro19Thr Single submitter ⚠
- p.Pro306Thr Single submitter ⚠
- p.Pro308Ser Single submitter ⚠
- p.Pro314Leu Single submitter ⚠
- p.Pro387Arg Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Pro387Thr Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser10Cys Single submitter ⚠
- p.Ser257Asn Single submitter ⚠
- p.Ser446Phe Single submitter ⚠
- p.Ser7Leu Single submitter ⚠
- p.Ser9Leu Single submitter ⚠
- p.Ser9Pro Single submitter ⚠
- p.Ser9Trp Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr249Met Single submitter ⚠
- p.Thr303Ala Single submitter ⚠
- p.Thr333Ala Single submitter ⚠
- p.Thr333Met Single submitter ⚠
- p.Thr3Arg Single submitter ⚠
- p.Thr405Met Single submitter ⚠
- p.Thr426Ile Single submitter ⚠
- p.Thr448Ser Single submitter ⚠
- p.Thr450Ile Single submitter ⚠
- p.Thr49Met Single submitter ⚠
- p.Thr49Ser Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠
- p.Tyr335His Single submitter ⚠
- p.Val336Leu Single submitter ⚠
- p.Val378Ala Single submitter ⚠
- p.Val50Ala Single submitter ⚠