EWSR1 — 93 ClinVar variants
All ClinVar germline EWSR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Conflicting · 20 Benign · 12 Likely benign · 60 Uncertain significance
Full EWSR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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EWSR1 p.Pro80Thr
Uncertain significance
Multiple submitters
amyotrophic lateral sclerosis
- EWSR1 p.Ala82Thr Uncertain significance Single submitter
- EWSR1 p.Arg321Cys Uncertain significance Single submitter
- EWSR1 p.Arg486Cys Uncertain significance Single submitter
- EWSR1 p.Arg563His Uncertain significance Single submitter
- EWSR1 p.Arg581Cys Uncertain significance Single submitter
- EWSR1 p.Arg600His Uncertain significance Single submitter
- EWSR1 p.Arg632Gly Uncertain significance Single submitter
- EWSR1 p.Arg636Cys Uncertain significance Single submitter
- EWSR1 p.Asp375Asn Uncertain significance Single submitter
-
EWSR1 p.Asp595Asn
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
- EWSR1 p.Gln91Pro Uncertain significance Single submitter
- EWSR1 p.Gly328Ala Uncertain significance Single submitter
- EWSR1 p.Gly564Arg Uncertain significance Single submitter
- EWSR1 p.Gly569Ala Uncertain significance Single submitter
- EWSR1 p.Gly594Val Uncertain significance Single submitter
- EWSR1 p.Gly597Cys Uncertain significance Single submitter
- EWSR1 p.Gly634Arg Uncertain significance Single submitter
- EWSR1 p.Gly645Ser Uncertain significance Single submitter
- EWSR1 p.Leu458Pro Uncertain significance Single submitter
- EWSR1 p.Leu458Val Uncertain significance Single submitter
- EWSR1 p.Lys447Arg Uncertain significance Single submitter
- EWSR1 p.Met275Val Uncertain significance Single submitter
- EWSR1 p.Met340Val Uncertain significance Single submitter
- EWSR1 p.Met587Leu Uncertain significance Single submitter
- EWSR1 p.Phe307Tyr Uncertain significance Single submitter
- EWSR1 p.Pro180Leu Uncertain significance Single submitter
- EWSR1 p.Pro339His Uncertain significance Single submitter
- EWSR1 p.Pro559Leu Uncertain significance Single submitter
- EWSR1 p.Ser171Thr Uncertain significance Single submitter
- EWSR1 p.Ser19Gly Uncertain significance Single submitter
- EWSR1 p.Ser230Gly Uncertain significance Single submitter
- EWSR1 p.Ser239Gly Uncertain significance Single submitter
- EWSR1 p.Ser252Gly Uncertain significance Single submitter
- EWSR1 p.Ser258Gly Uncertain significance Single submitter
- EWSR1 p.Ser358Cys Uncertain significance Single submitter
- EWSR1 p.Ser361Asn Uncertain significance Single submitter
- EWSR1 p.Thr134Ala Uncertain significance Single submitter
- EWSR1 p.Thr146Ile Uncertain significance Single submitter
- EWSR1 p.Thr373Asn Uncertain significance Single submitter
- EWSR1 p.Thr68Ala Uncertain significance Single submitter
- EWSR1 p.Tyr401Cys Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- EWSR1 p.Arg309Cys Uncertain significance Single submitter
- EWSR1 p.Arg651His Uncertain significance Single submitter
- EWSR1 p.Asp359Gly Uncertain significance Single submitter
- EWSR1 p.Gln257His Uncertain significance Single submitter
- EWSR1 p.Gln56His Uncertain significance Single submitter
-
EWSR1 p.Gly465Ser
Conflicting
Single submitter
amyotrophic lateral sclerosis
- EWSR1 p.Met587Ile Uncertain significance Single submitter
- EWSR1 p.Ser258Arg Uncertain significance Single submitter
- EWSR1 p.Ser326Arg Uncertain significance Single submitter
- EWSR1 p.Ser416Phe Uncertain significance Single submitter
All EWSR1 variants
Conflicting classifications of pathogenicity 1
- p.Gly465Ser Single submitter amyotrophic lateral sclerosis ⚠
Benign 20
- c.103-18C>G Multiple submitters
- c.103-37T>C Multiple submitters
- c.103-82G>C Multiple submitters
- c.1164+37T>G Multiple submitters
- c.1165-309G>A Multiple submitters
- c.1294+130G>T Multiple submitters
- c.1294+139G>T Multiple submitters
- c.13+85G>A Multiple submitters
- c.14-201C>T Multiple submitters
- c.1417+51A>G Multiple submitters
- c.1931+88T>G Multiple submitters
- c.582-211A>T Multiple submitters
- c.582-9C>G Multiple submitters Ewing sarcoma
- p.Gly617= Multiple submitters
- c.1046-17C>G Single submitter
- c.1164+174_1164+175del Single submitter
- c.1295-177G>A Single submitter
- c.1418-240T>C Single submitter
- p.Pro200= Single submitter
- p.Gln256= No assertion criteria EWSR1-related disorder
Likely benign 12
- c.1580+7A>G Multiple submitters
- c.1294+6A>T Single submitter
- c.14-7C>G Single submitter
- p.Gly76= Single submitter
- p.Lys441= Single submitter
- p.Pro584= Single submitter
- p.Ser371Asn Single submitter
- p.Thr137Ala Single submitter
- p.Tyr70= Single submitter
- c.1418-5_1418-3del No assertion criteria EWSR1-related disorder
- c.-3A>G No assertion criteria EWSR1-related disorder
- p.Thr4= No assertion criteria EWSR1-related disorder
Uncertain significance 60
- p.Pro80Thr Multiple submitters amyotrophic lateral sclerosis ⚠
- c.1418-3_1423del Single submitter
- c.226+406G>A Single submitter
- c.226+413G>A Single submitter
- p.472GGP[3] Single submitter amyotrophic lateral sclerosis
- p.Ala82Thr Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg486Cys Single submitter ⚠
- p.Arg506Gln Single submitter
- p.Arg563His Single submitter ⚠
- p.Arg581Cys Single submitter ⚠
- p.Arg600His Single submitter ⚠
- p.Arg632Gly Single submitter ⚠
- p.Arg636Cys Single submitter ⚠
- p.Arg651His Single submitter ⚠
- p.Asn360Asp Single submitter
- p.Asp359Gly Single submitter ⚠
- p.Asp375Asn Single submitter ⚠
- p.Asp595Asn Single submitter amyotrophic lateral sclerosis ⚠
- p.Gln257His Single submitter ⚠
- p.Gln56His Single submitter ⚠
- p.Gln91Pro Single submitter ⚠
- p.Gly328Ala Single submitter ⚠
- p.Gly564Arg Single submitter ⚠
- p.Gly569Ala Single submitter ⚠
- p.Gly594Val Single submitter ⚠
- p.Gly597Cys Single submitter ⚠
- p.Gly601Ser Single submitter
- p.Gly634Arg Single submitter ⚠
- p.Gly645Ser Single submitter ⚠
- p.Leu458Pro Single submitter ⚠
- p.Leu458Val Single submitter ⚠
- p.Lys447Arg Single submitter ⚠
- p.Met275Val Single submitter ⚠
- p.Met340Val Single submitter ⚠
- p.Met579Val Single submitter
- p.Met587Ile Single submitter ⚠
- p.Met587Leu Single submitter ⚠
- p.Phe307Tyr Single submitter ⚠
- p.Pro180Leu Single submitter ⚠
- p.Pro339His Single submitter ⚠
- p.Pro47His Single submitter
- p.Pro559Leu Single submitter ⚠
- p.Ser171Thr Single submitter ⚠
- p.Ser19Gly Single submitter ⚠
- p.Ser230Gly Single submitter ⚠
- p.Ser239Gly Single submitter ⚠
- p.Ser252Gly Single submitter ⚠
- p.Ser258Arg Single submitter ⚠
- p.Ser258Gly Single submitter ⚠
- p.Ser326Arg Single submitter ⚠
- p.Ser358Cys Single submitter ⚠
- p.Ser361Asn Single submitter ⚠
- p.Ser416Phe Single submitter ⚠
- p.Thr134Ala Single submitter ⚠
- p.Thr146Ile Single submitter ⚠
- p.Thr373Asn Single submitter ⚠
- p.Thr68Ala Single submitter ⚠
- p.Tyr401Cys Single submitter ⚠