EED — 159 ClinVar variants
All ClinVar germline EED variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 2 Conflicting · 32 Benign · 38 Likely benign · 74 Uncertain significance
Full EED gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EED p.Ala17Val
Uncertain significance
Multiple submitters
Cohen-Gibson syndrome
-
EED p.Ile178Val
Uncertain significance
Multiple submitters
Cohen-Gibson syndrome
-
EED p.Lys83Ile
Uncertain significance
Multiple submitters
Cohen-Gibson syndrome
- EED p.Ala114Ser Uncertain significance Single submitter
-
EED p.Ala327Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ala41Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Ala41Val Uncertain significance Single submitter
-
EED p.Ala62Thr
Uncertain significance
Single submitter
EED-related disorder
-
EED p.Arg133Trp
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Arg216Gln
Uncertain significance
Single submitter
EED-related disorder
- EED p.Arg367Ser Uncertain significance Single submitter
-
EED p.Arg4Lys
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Arg4Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Arg52Cys
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
-
EED p.Asn102Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Asn266Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Asn272Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Asn283His Uncertain significance Single submitter
-
EED p.Asn38Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Asp36Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Glu233Lys Uncertain significance Single submitter
-
EED p.Glu3Asp
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Glu5Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.His127Arg Uncertain significance Single submitter
-
EED p.His127Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.His185Tyr
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile132Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile193Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile290Thr
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile294Val
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile340Val
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile352Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile426Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile44Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile44Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Leu33Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Lys250Thr Uncertain significance Single submitter
-
EED p.Lys72Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Met15Arg
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Met15Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Met15Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Met370Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Met376Leu Uncertain significance Single submitter
-
EED p.Pro396Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ser25Gly
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ser300Cys
Uncertain significance
Single submitter
Cohen-Gibson syndrome
- EED p.Val165Ile Uncertain significance Single submitter
-
EED p.Val6Ala
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Tyr186Cys
Uncertain significance
No assertion criteria
EED-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
-
EED p.Arg4Met
Uncertain significance
Multiple submitters
Cohen-Gibson syndrome
-
EED p.Ile274Val
Likely benign
Multiple submitters
Cohen-Gibson syndrome
- EED p.Ala242Ser Uncertain significance Single submitter
-
EED p.Asn146Lys
Uncertain significance
Single submitter
Cohen-Gibson syndrome
- EED p.Gln136His Uncertain significance Single submitter
- EED p.Gln94His Likely pathogenic Single submitter
-
EED p.Glu392Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Gly230Ala
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile174Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile319Leu
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ile340Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ile426Met
Uncertain significance
Single submitter
Inborn genetic diseases
- EED p.Lys184Gln Uncertain significance Single submitter
-
EED p.Met336Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Pro10Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Pro16Leu
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Pro282Leu
Uncertain significance
Single submitter
Cohen-Gibson syndrome
-
EED p.Ser24Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Ser2Pro
Uncertain significance
Single submitter
Cohen-Gibson syndrome
- EED p.Ser359Ile Uncertain significance Single submitter
- EED p.Ser7Leu Benign Single submitter
-
EED p.Val139Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EED p.Val6Met
Uncertain significance
Single submitter
Inborn genetic diseases
All EED variants
Pathogenic 4
- p.Tyr308Cys Single submitter Cohen-Gibson syndrome
- p.Arg236Thr No assertion criteria Cohen-Gibson syndrome
- p.Arg302Gly No assertion criteria Cohen-Gibson syndrome
- p.His258Tyr No assertion criteria Cohen-Gibson syndrome
Pathogenic/Likely pathogenic 1
- p.Asn194Ser Multiple submitters Cohen-Gibson syndrome
Likely pathogenic 8
- p.Ala378Val Single submitter Cohen-Gibson syndrome
- p.Arg302Ser Single submitter Cohen-Gibson syndrome
- p.Arg414Gln Single submitter Neurodevelopmental delay
- p.Asp237Gly Single submitter Cohen-Gibson syndrome
- p.Gln94His Single submitter ⚠
- p.His258Leu Single submitter Cohen-Gibson syndrome
- p.Met256Thr Single submitter autism spectrum disorder
- p.Met366Thr Single submitter Cohen-Gibson syndrome
Conflicting classifications of pathogenicity 2
- c.268-3T>C Single submitter Inborn genetic diseases
- p.Ala242= Single submitter Cohen-Gibson syndrome
Benign 32
- c.1199+8_1199+11del Multiple submitters Cohen-Gibson syndrome
- c.268-43G>A Multiple submitters
- c.361-87G>T Multiple submitters
- c.427-131A>G Multiple submitters
- c.552+155G>A Multiple submitters
- c.727-8G>A Multiple submitters Cohen-Gibson syndrome
- c.861-228T>G Multiple submitters
- c.966+66A>G Multiple submitters
- c.967-204A>C Multiple submitters
- p.Leu207= Multiple submitters Cohen-Gibson syndrome
- c.114+18C>T Single submitter Cohen-Gibson syndrome
- c.115-172C>T Single submitter
- c.1199+10T>C Single submitter Cohen-Gibson syndrome
- c.267+141del Single submitter
- c.267+156G>A Single submitter
- c.267+20C>G Single submitter Cohen-Gibson syndrome
- c.553-157del Single submitter
- c.553-192C>T Single submitter
- c.634+114G>C Single submitter
- c.726+177TATT[5] Single submitter
- c.966+19A>C Single submitter Cohen-Gibson syndrome
- c.966+34GT[15] Single submitter
- c.966+34GT[17] Single submitter
- c.966+34GT[18] Single submitter
- c.966+34GT[19] Single submitter
- c.966+34GT[20] Single submitter
- c.966+34GT[21] Single submitter
- c.966+75C>T Single submitter
- p.Gly354= Single submitter Cohen-Gibson syndrome
- p.Leu425= Single submitter Cohen-Gibson syndrome
- p.Leu88= Single submitter Cohen-Gibson syndrome
- p.Ser7Leu Single submitter ⚠
Likely benign 38
- c.361-19G>A Multiple submitters Cohen-Gibson syndrome
- p.Asp26= Multiple submitters Cohen-Gibson syndrome
- p.Asp310= Multiple submitters Cohen-Gibson syndrome
- p.Ile274Val Multiple submitters Cohen-Gibson syndrome ⚠
- p.Lys66= Multiple submitters Cohen-Gibson syndrome
- p.Thr50Pro Multiple submitters Inborn genetic diseases
- c.268-7_268-3del Single submitter Cohen-Gibson syndrome
- c.268-8T>C Single submitter Cohen-Gibson syndrome
- c.361-9T>C Single submitter Cohen-Gibson syndrome
- c.726+19G>A Single submitter Cohen-Gibson syndrome
- c.727-6A>G Single submitter
- c.861-10C>T Single submitter Cohen-Gibson syndrome
- c.966+1587C>T Single submitter
- c.966+1602G>A Single submitter
- c.-124G>C Single submitter
- c.-125G>C Single submitter
- c.-125G>T Single submitter
- c.-13G>A Single submitter
- c.-13G>C Single submitter
- c.-20C>T Single submitter
- c.-85G>A Single submitter
- p.Ala9= Single submitter
- p.Arg133= Single submitter
- p.Arg414= Single submitter Cohen-Gibson syndrome
- p.Asp32= Single submitter Cohen-Gibson syndrome
- p.Asp338= Single submitter
- p.Glu27= Single submitter
- p.Gly12= Single submitter Cohen-Gibson syndrome
- p.Ile294= Single submitter Cohen-Gibson syndrome
- p.Lys22= Single submitter Cohen-Gibson syndrome
- p.Lys72= Single submitter Cohen-Gibson syndrome
- p.Phe147= Single submitter Cohen-Gibson syndrome
- p.Ser159= Single submitter Cohen-Gibson syndrome
- p.Ser2= Single submitter Cohen-Gibson syndrome
- p.Ser323= Single submitter Cohen-Gibson syndrome
- p.Ser419= Single submitter Cohen-Gibson syndrome
- p.Thr405= Single submitter
- p.Thr59= Single submitter Cohen-Gibson syndrome
Uncertain significance 74
- p.Ala17Val Multiple submitters Cohen-Gibson syndrome ⚠
- p.Arg4Met Multiple submitters Cohen-Gibson syndrome ⚠
- p.Ile178Val Multiple submitters Cohen-Gibson syndrome ⚠
- p.Lys83Ile Multiple submitters Cohen-Gibson syndrome ⚠
- p.Lys89fs Multiple submitters Cohen-Gibson syndrome
- c.114+4A>C Single submitter Cohen-Gibson syndrome
- c.552+4G>A Single submitter Cohen-Gibson syndrome
- c.966+1585C>T Single submitter
- p.Ala114Ser Single submitter ⚠
- p.Ala18_Lys19insThrAspMetProAlaAla Single submitter Cohen-Gibson syndrome
- p.Ala242Ser Single submitter ⚠
- p.Ala327Ser Single submitter Inborn genetic diseases ⚠
- p.Ala41Thr Single submitter Inborn genetic diseases ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala62Thr Single submitter EED-related disorder ⚠
- p.Arg133Trp Single submitter Cohen-Gibson syndrome ⚠
- p.Arg216Gln Single submitter EED-related disorder ⚠
- p.Arg367Ser Single submitter ⚠
- p.Arg4Lys Single submitter Cohen-Gibson syndrome ⚠
- p.Arg4Ser Single submitter Inborn genetic diseases ⚠
- p.Arg52Cys Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Asn102Asp Single submitter Inborn genetic diseases ⚠
- p.Asn146Lys Single submitter Cohen-Gibson syndrome ⚠
- p.Asn266Thr Single submitter Inborn genetic diseases ⚠
- p.Asn272Ser Single submitter Inborn genetic diseases ⚠
- p.Asn283His Single submitter ⚠
- p.Asn38Thr Single submitter Inborn genetic diseases ⚠
- p.Asp36Glu Single submitter Inborn genetic diseases ⚠
- p.Gln136His Single submitter ⚠
- p.Glu233Lys Single submitter ⚠
- p.Glu392Lys Single submitter Inborn genetic diseases ⚠
- p.Glu3Asp Single submitter Cohen-Gibson syndrome ⚠
- p.Glu5Gly Single submitter Inborn genetic diseases ⚠
- p.Gly230Ala Single submitter Cohen-Gibson syndrome ⚠
- p.His127Arg Single submitter ⚠
- p.His127Tyr Single submitter Inborn genetic diseases ⚠
- p.His185Tyr Single submitter Cohen-Gibson syndrome ⚠
- p.Ile132Val Single submitter Inborn genetic diseases ⚠
- p.Ile174Met Single submitter Inborn genetic diseases ⚠
- p.Ile193Val Single submitter Inborn genetic diseases ⚠
- p.Ile290Thr Single submitter Cohen-Gibson syndrome ⚠
- p.Ile294Val Single submitter Cohen-Gibson syndrome ⚠
- p.Ile319Leu Single submitter Cohen-Gibson syndrome ⚠
- p.Ile340Arg Single submitter Inborn genetic diseases ⚠
- p.Ile340Val Single submitter Cohen-Gibson syndrome ⚠
- p.Ile352Val Single submitter Inborn genetic diseases ⚠
- p.Ile426Met Single submitter Inborn genetic diseases ⚠
- p.Ile426Val Single submitter Inborn genetic diseases ⚠
- p.Ile44Thr Single submitter Inborn genetic diseases ⚠
- p.Ile44Val Single submitter Inborn genetic diseases ⚠
- p.Leu33Ile Single submitter Inborn genetic diseases ⚠
- p.Lys184Gln Single submitter ⚠
- p.Lys250Thr Single submitter ⚠
- p.Lys72Arg Single submitter Inborn genetic diseases ⚠
- p.Met15Arg Single submitter Cohen-Gibson syndrome ⚠
- p.Met15Ile Single submitter Inborn genetic diseases ⚠
- p.Met15Val Single submitter Inborn genetic diseases ⚠
- p.Met336Ile Single submitter Inborn genetic diseases ⚠
- p.Met370Val Single submitter Inborn genetic diseases ⚠
- p.Met376Leu Single submitter ⚠
- p.Pro10Arg Single submitter Inborn genetic diseases ⚠
- p.Pro16Leu Single submitter Cohen-Gibson syndrome ⚠
- p.Pro282Leu Single submitter Cohen-Gibson syndrome ⚠
- p.Pro396Ser Single submitter Inborn genetic diseases ⚠
- p.Ser24Gly Single submitter Inborn genetic diseases ⚠
- p.Ser25Gly Single submitter Cohen-Gibson syndrome ⚠
- p.Ser2Pro Single submitter Cohen-Gibson syndrome ⚠
- p.Ser300Cys Single submitter Cohen-Gibson syndrome ⚠
- p.Ser359Ile Single submitter ⚠
- p.Val139Leu Single submitter Inborn genetic diseases ⚠
- p.Val165Ile Single submitter ⚠
- p.Val6Ala Single submitter Cohen-Gibson syndrome ⚠
- p.Val6Met Single submitter Inborn genetic diseases ⚠
- p.Tyr186Cys No assertion criteria EED-related disorder ⚠