EZH1 — 83 ClinVar variants
All ClinVar germline EZH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Likely benign · 72 Uncertain significance
Full EZH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EZH1 p.Ala268Gly Uncertain significance Multiple submitters
- EZH1 p.Asp203Asn Uncertain significance Multiple submitters
-
EZH1 p.Leu735Phe
Uncertain significance
Multiple submitters
EZH1-neurodevelopmental syndrome
- EZH1 p.Ala418Ser Uncertain significance Single submitter
- EZH1 p.Arg217Gln Uncertain significance Single submitter
- EZH1 p.Arg258Gly Uncertain significance Single submitter
- EZH1 p.Arg300Gln Uncertain significance Single submitter
- EZH1 p.Arg362Trp Uncertain significance Single submitter
- EZH1 p.Arg498Gly Uncertain significance Single submitter
- EZH1 p.Arg529Cys Uncertain significance Single submitter
- EZH1 p.Asn152Ser Uncertain significance Single submitter
- EZH1 p.Asn195Ser Uncertain significance Single submitter
- EZH1 p.Asn374Asp Uncertain significance Single submitter
- EZH1 p.Asp181Asn Uncertain significance Single submitter
- EZH1 p.Cys357Phe Uncertain significance Single submitter
- EZH1 p.Cys454Tyr Uncertain significance Single submitter
- EZH1 p.Gln230Pro Uncertain significance Single submitter
-
EZH1 p.Glu641Val
Uncertain significance
Single submitter
EZH1-associated neurodevelopmental disorder
- EZH1 p.Gly279Ser Uncertain significance Single submitter
- EZH1 p.Gly656Arg Uncertain significance Single submitter
- EZH1 p.Ile220Val Uncertain significance Single submitter
- EZH1 p.Ile326Val Uncertain significance Single submitter
- EZH1 p.Ile709Thr Uncertain significance Single submitter
- EZH1 p.Leu41Val Uncertain significance Single submitter
- EZH1 p.Lys225Thr Uncertain significance Single submitter
- EZH1 p.Lys228Arg Uncertain significance Single submitter
- EZH1 p.Met164Ile Uncertain significance Single submitter
- EZH1 p.Met349Val Uncertain significance Single submitter
- EZH1 p.Met663Val Uncertain significance Single submitter
- EZH1 p.Met71Leu Uncertain significance Single submitter
- EZH1 p.Met71Val Uncertain significance Single submitter
- EZH1 p.Pro332Arg Uncertain significance Single submitter
- EZH1 p.Pro431Ser Uncertain significance Single submitter
- EZH1 p.Pro559Ser Uncertain significance Single submitter
- EZH1 p.Pro73Leu Uncertain significance Single submitter
- EZH1 p.Ser358Ala Uncertain significance Single submitter
- EZH1 p.Ser369Gly Uncertain significance Single submitter
- EZH1 p.Ser373Cys Uncertain significance Single submitter
- EZH1 p.Ser376Leu Uncertain significance Single submitter
- EZH1 p.Ser405Phe Uncertain significance Single submitter
- EZH1 p.Ser429Pro Uncertain significance Single submitter
- EZH1 p.Ser632Pro Uncertain significance Single submitter
- EZH1 p.Ser75Gly Uncertain significance Single submitter
- EZH1 p.Thr53Asn Uncertain significance Single submitter
- EZH1 p.Val249Ile Uncertain significance Single submitter
- EZH1 p.Val49Leu Uncertain significance Single submitter
- EZH1 p.Val578Met Uncertain significance Single submitter
- EZH1 p.Val68Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- EZH1 p.Arg31Trp Uncertain significance Single submitter
- EZH1 p.Arg406Cys Uncertain significance Single submitter
- EZH1 p.Arg406His Uncertain significance Single submitter
- EZH1 p.Arg443Leu Uncertain significance Single submitter
- EZH1 p.Asn281Ser Uncertain significance Single submitter
-
EZH1 p.Asn683Ser
Uncertain significance
Single submitter
EZH1-related disorder
- EZH1 p.Asp745Gly Uncertain significance Single submitter
- EZH1 p.Ile607Met Uncertain significance Single submitter
- EZH1 p.Ile717Val Uncertain significance Single submitter
- EZH1 p.Leu80Pro Uncertain significance Single submitter
- EZH1 p.Met253Thr Uncertain significance Single submitter
- EZH1 p.Phe121Leu Uncertain significance Single submitter
- EZH1 p.Phe92Leu Uncertain significance Single submitter
- EZH1 p.Phe92Ser Uncertain significance Single submitter
- EZH1 p.Pro316Thr Uncertain significance Single submitter
- EZH1 p.Pro530Ser Uncertain significance Single submitter
- EZH1 p.Pro90Leu Uncertain significance Single submitter
- EZH1 p.Ser373Phe Uncertain significance Single submitter
- EZH1 p.Ser9Phe Uncertain significance Single submitter
- EZH1 p.Thr127Met Uncertain significance Single submitter
All EZH1 variants
Pathogenic/Likely pathogenic 1
- p.Ala678Gly Multiple submitters EZH1-neurodevelopmental syndrome
Likely pathogenic 5
- p.Glu485Ter Multiple submitters EZH1-neurodevelopmental syndrome
- c.1660+1G>A Single submitter
- c.(664+1_665-1 Single submitter EZH1-neurodevelopmental syndrome
- c.932-1G>A Single submitter EZH1-neurodevelopmental syndrome
- p.Gln731Glu Single submitter EZH1-neurodevelopmental syndrome
Likely benign 5
- p.Ala379= Single submitter
- p.Pro78Thr Single submitter
- p.Ser378= Single submitter
- p.Ser399= Single submitter
- p.Val123= Single submitter
Uncertain significance 72
- p.Ala268Gly Multiple submitters ⚠
- p.Asp203Asn Multiple submitters ⚠
- p.Leu735Phe Multiple submitters EZH1-neurodevelopmental syndrome ⚠
- c.2017+5G>A Single submitter
- p.Ala418Ser Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg258Gly Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg362Trp Single submitter ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg443Leu Single submitter ⚠
- p.Arg498Gly Single submitter ⚠
- p.Arg529Cys Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn374Asp Single submitter ⚠
- p.Asn683Ser Single submitter EZH1-related disorder ⚠
- p.Asp181Asn Single submitter ⚠
- p.Asp745Gly Single submitter ⚠
- p.Cys357Phe Single submitter ⚠
- p.Cys454Tyr Single submitter ⚠
- p.Gln230Pro Single submitter ⚠
- p.Gln286Leu Single submitter
- p.Glu342Val Single submitter
- p.Glu641Val Single submitter EZH1-associated neurodevelopmental disorder ⚠
- p.Gly279Ser Single submitter ⚠
- p.Gly656Arg Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile326Val Single submitter ⚠
- p.Ile607Met Single submitter ⚠
- p.Ile709Thr Single submitter ⚠
- p.Ile717Val Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Leu80Pro Single submitter ⚠
- p.Lys225Thr Single submitter ⚠
- p.Lys228Arg Single submitter ⚠
- p.Met164Ile Single submitter ⚠
- p.Met253Thr Single submitter ⚠
- p.Met349Val Single submitter ⚠
- p.Met663Val Single submitter ⚠
- p.Met71Leu Single submitter ⚠
- p.Met71Val Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe92Leu Single submitter ⚠
- p.Phe92Ser Single submitter ⚠
- p.Pro316Thr Single submitter ⚠
- p.Pro332Arg Single submitter ⚠
- p.Pro431Ser Single submitter ⚠
- p.Pro530Ser Single submitter ⚠
- p.Pro559Ser Single submitter ⚠
- p.Pro73Leu Single submitter ⚠
- p.Pro90Leu Single submitter ⚠
- p.Ser358Ala Single submitter ⚠
- p.Ser369Gly Single submitter ⚠
- p.Ser373Cys Single submitter ⚠
- p.Ser373Phe Single submitter ⚠
- p.Ser376Leu Single submitter ⚠
- p.Ser405Phe Single submitter ⚠
- p.Ser429Pro Single submitter ⚠
- p.Ser632Pro Single submitter ⚠
- p.Ser75Gly Single submitter ⚠
- p.Ser9Phe Single submitter ⚠
- p.Thr127Met Single submitter ⚠
- p.Thr53Asn Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val49Leu Single submitter ⚠
- p.Val578Met Single submitter ⚠
- p.Val68Ile Single submitter ⚠
- p.Val738fs Single submitter