EHMT2 — 152 ClinVar variants
All ClinVar germline EHMT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
7 Pathogenic · 7 Benign · 9 Likely benign · 129 Uncertain significance
Full EHMT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHMT2 p.Ala137Ser Uncertain significance Single submitter
- EHMT2 p.Ala17Pro Uncertain significance Single submitter
- EHMT2 p.Ala448Val Uncertain significance Single submitter
- EHMT2 p.Ala476Pro Uncertain significance Single submitter
- EHMT2 p.Ala486Thr Uncertain significance Single submitter
- EHMT2 p.Ala540Val Uncertain significance Single submitter
- EHMT2 p.Ala54Pro Uncertain significance Single submitter
- EHMT2 p.Ala562Pro Uncertain significance Single submitter
- EHMT2 p.Ala576Val Uncertain significance Single submitter
- EHMT2 p.Ala68Val Uncertain significance Single submitter
- EHMT2 p.Ala734Val Uncertain significance Single submitter
- EHMT2 p.Ala79Thr Uncertain significance Single submitter
- EHMT2 p.Ala831Thr Uncertain significance Single submitter
- EHMT2 p.Ala840Val Uncertain significance Single submitter
- EHMT2 p.Ala915Thr Uncertain significance Single submitter
- EHMT2 p.Arg103Leu Uncertain significance Single submitter
- EHMT2 p.Arg106Trp Uncertain significance Single submitter
- EHMT2 p.Arg244Trp Uncertain significance Single submitter
- EHMT2 p.Arg245Cys Uncertain significance Single submitter
- EHMT2 p.Arg360His Uncertain significance Single submitter
- EHMT2 p.Arg362Gln Uncertain significance Single submitter
- EHMT2 p.Arg466Gln Uncertain significance Single submitter
- EHMT2 p.Arg514His Uncertain significance Single submitter
- EHMT2 p.Arg550Gln Uncertain significance Single submitter
- EHMT2 p.Arg550Trp Uncertain significance Single submitter
- EHMT2 p.Arg592Trp Uncertain significance Single submitter
- EHMT2 p.Arg593His Uncertain significance Single submitter
- EHMT2 p.Arg735His Uncertain significance Single submitter
- EHMT2 p.Arg807Gln Uncertain significance Single submitter
- EHMT2 p.Arg841His Uncertain significance Single submitter
- EHMT2 p.Arg894Cys Uncertain significance Single submitter
- EHMT2 p.Arg894His Uncertain significance Single submitter
- EHMT2 p.Arg905His Uncertain significance Single submitter
- EHMT2 p.Arg914Gln Uncertain significance Single submitter
- EHMT2 p.Arg966Leu Uncertain significance Single submitter
- EHMT2 p.Arg993Trp Uncertain significance Single submitter
- EHMT2 p.Asn460Ser Uncertain significance Single submitter
- EHMT2 p.Asn673Ser Uncertain significance Single submitter
- EHMT2 p.Asn881Ser Uncertain significance Single submitter
- EHMT2 p.Asn913Ser Uncertain significance Single submitter
- EHMT2 p.Asp286Asn Uncertain significance Single submitter
- EHMT2 p.Asp43Tyr Uncertain significance Single submitter
- EHMT2 p.Asp57Asn Uncertain significance Single submitter
- EHMT2 p.Asp57Tyr Uncertain significance Single submitter
- EHMT2 p.Asp99His Uncertain significance Single submitter
- EHMT2 p.Cys596Tyr Uncertain significance Single submitter
- EHMT2 p.Cys946Tyr Uncertain significance Single submitter
- EHMT2 p.Glu369Asp Uncertain significance Single submitter
- EHMT2 p.Gly176Arg Uncertain significance Single submitter
- EHMT2 p.Gly235Val Uncertain significance Single submitter
- EHMT2 p.Gly32Glu Uncertain significance Single submitter
- EHMT2 p.Gly529Arg Uncertain significance Single submitter
- EHMT2 p.Gly551Cys Uncertain significance Single submitter
- EHMT2 p.Gly559Ser Uncertain significance Single submitter
- EHMT2 p.Gly616Val Uncertain significance Single submitter
- EHMT2 p.Gly784Arg Uncertain significance Single submitter
- EHMT2 p.Gly912Glu Uncertain significance Single submitter
- EHMT2 p.His1128Asp Uncertain significance Single submitter
- EHMT2 p.His588Leu Uncertain significance Single submitter
- EHMT2 p.His650Tyr Uncertain significance Single submitter
- EHMT2 p.Ile964Val Uncertain significance Single submitter
- EHMT2 p.Leu230Pro Uncertain significance Single submitter
- EHMT2 p.Leu251Val Uncertain significance Single submitter
- EHMT2 p.Leu400Phe Uncertain significance Single submitter
- EHMT2 p.Leu59Arg Uncertain significance Single submitter
- EHMT2 p.Leu907Ile Uncertain significance Single submitter
- EHMT2 p.Lys1037Asn Uncertain significance Single submitter
- EHMT2 p.Lys179Arg Uncertain significance Single submitter
- EHMT2 p.Lys229Thr Uncertain significance Single submitter
- EHMT2 p.Met1048Leu Uncertain significance Single submitter
- EHMT2 p.Met149Val Uncertain significance Single submitter
- EHMT2 p.Met737Val Uncertain significance Single submitter
- EHMT2 p.Met803Arg Uncertain significance Single submitter
- EHMT2 p.Pro141Leu Uncertain significance Single submitter
- EHMT2 p.Pro167Arg Uncertain significance Single submitter
- EHMT2 p.Pro196Leu Uncertain significance Single submitter
- EHMT2 p.Pro45Leu Uncertain significance Single submitter
- EHMT2 p.Pro594Leu Uncertain significance Single submitter
- EHMT2 p.Pro82Ala Uncertain significance Single submitter
- EHMT2 p.Pro87Ser Uncertain significance Single submitter
- EHMT2 p.Ser1187Asn Uncertain significance Single submitter
- EHMT2 p.Ser1204Phe Uncertain significance Single submitter
- EHMT2 p.Ser153Thr Uncertain significance Single submitter
- EHMT2 p.Ser451Arg Uncertain significance Single submitter
- EHMT2 p.Thr172Met Uncertain significance Single submitter
- EHMT2 p.Thr221Asn Uncertain significance Single submitter
- EHMT2 p.Thr502Met Uncertain significance Single submitter
- EHMT2 p.Thr50Ser Uncertain significance Single submitter
- EHMT2 p.Thr578Ala Uncertain significance Single submitter
- EHMT2 p.Thr720Met Uncertain significance Single submitter
- EHMT2 p.Tyr736Cys Uncertain significance Single submitter
- EHMT2 p.Val249Met Uncertain significance Single submitter
- EHMT2 p.Val279Ala Uncertain significance Single submitter
- EHMT2 p.Val283Met Uncertain significance Single submitter
- EHMT2 p.Val738Met Uncertain significance Single submitter
- EHMT2 p.Val847Ile Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- EHMT2 p.Ala693Thr Uncertain significance Single submitter
- EHMT2 p.Ala834Thr Uncertain significance Single submitter
- EHMT2 p.Arg182Pro Uncertain significance Single submitter
- EHMT2 p.Arg359Trp Uncertain significance Single submitter
- EHMT2 p.Arg474His Uncertain significance Single submitter
- EHMT2 p.Arg487His Uncertain significance Single submitter
- EHMT2 p.Arg807Trp Uncertain significance Single submitter
-
EHMT2 p.Asn1112Ser
Pathogenic
Single submitter
Kleefstra-like syndrome
- EHMT2 p.Asn848Ser Uncertain significance Single submitter
- EHMT2 p.Asp1116Asn Uncertain significance Single submitter
- EHMT2 p.Asp672Asn Uncertain significance Single submitter
- EHMT2 p.Glu450Asp Uncertain significance Single submitter
- EHMT2 p.Gly1094Glu Uncertain significance Single submitter
-
EHMT2 p.His850Arg
Uncertain significance
Single submitter
EHMT2-related disorder
- EHMT2 p.Ile700Phe Uncertain significance Single submitter
- EHMT2 p.Met132Ile Uncertain significance Single submitter
- EHMT2 p.Met187Val Uncertain significance Single submitter
- EHMT2 p.Phe870Leu Uncertain significance Single submitter
- EHMT2 p.Pro688Ser Uncertain significance Single submitter
- EHMT2 p.Ser153Arg Uncertain significance Single submitter
- EHMT2 p.Ser165Tyr Uncertain significance Single submitter
- EHMT2 p.Thr969Ser Uncertain significance Single submitter
- EHMT2 p.Trp898Ser Uncertain significance Single submitter
- EHMT2 p.Val1032Leu Uncertain significance Single submitter
- EHMT2 p.Val897Met Uncertain significance Single submitter
All EHMT2 variants
Pathogenic 7
- p.Ala1077Thr Multiple submitters EHMT2-related Kleefstra-like syndrome
- p.Ala1077Ser Single submitter Kleefstra-like syndrome
- p.Asn1112Ser Single submitter Kleefstra-like syndrome ⚠
- p.Glu1076_Val1079del Single submitter Kleefstra-like syndrome
- p.Lys1162Arg Single submitter Kleefstra-like syndrome
- p.Phe1158Leu Single submitter Kleefstra-like syndrome
- p.Ser1163_Lys1164del Single submitter Kleefstra-like syndrome
Benign 7
- c.329-11C>T Single submitter
- p.Asp101Asn Single submitter
- p.Gly626= Single submitter
- p.Pro256= Single submitter
- p.Thr264= Single submitter
- p.Thr959= Single submitter
- p.Val479= Single submitter
Likely benign 9
- c.865-7C>T Single submitter
- p.Ala1020= Single submitter
- p.Cys987= Single submitter
- p.Gly1203Ser Single submitter
- p.Gly257Arg Single submitter
- p.Gly443= Single submitter
- p.His404= Single submitter
- p.Pro495= Single submitter
- p.Ser579del Single submitter
Uncertain significance 129
- c.2344-19_2344-16del Single submitter Syndromic neurodevelopmental disorder
- c.328+2T>G Single submitter Syndromic neurodevelopmental disorder
- p.Ala137Ser Single submitter ⚠
- p.Ala17Pro Single submitter ⚠
- p.Ala448Val Single submitter ⚠
- p.Ala476Pro Single submitter ⚠
- p.Ala486Thr Single submitter ⚠
- p.Ala540Val Single submitter ⚠
- p.Ala54Pro Single submitter ⚠
- p.Ala562Pro Single submitter ⚠
- p.Ala576Val Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Ala693Thr Single submitter ⚠
- p.Ala734Val Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Ala831Thr Single submitter ⚠
- p.Ala834Thr Single submitter ⚠
- p.Ala840Val Single submitter ⚠
- p.Ala915Thr Single submitter ⚠
- p.Arg103Leu Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg182Pro Single submitter ⚠
- p.Arg244Trp Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg359Trp Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg474His Single submitter ⚠
- p.Arg487His Single submitter ⚠
- p.Arg514His Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg550Trp Single submitter ⚠
- p.Arg592Trp Single submitter ⚠
- p.Arg593His Single submitter ⚠
- p.Arg735His Single submitter ⚠
- p.Arg807Gln Single submitter ⚠
- p.Arg807Trp Single submitter ⚠
- p.Arg841His Single submitter ⚠
- p.Arg894Cys Single submitter ⚠
- p.Arg894His Single submitter ⚠
- p.Arg905Cys Single submitter
- p.Arg905His Single submitter ⚠
- p.Arg914Gln Single submitter ⚠
- p.Arg917Leu Single submitter
- p.Arg966Leu Single submitter ⚠
- p.Arg993Trp Single submitter ⚠
- p.Asn460Ser Single submitter ⚠
- p.Asn673Ser Single submitter ⚠
- p.Asn848Ser Single submitter ⚠
- p.Asn881Ser Single submitter ⚠
- p.Asn913Ser Single submitter ⚠
- p.Asp1116Asn Single submitter ⚠
- p.Asp286Asn Single submitter ⚠
- p.Asp43Tyr Single submitter ⚠
- p.Asp57Asn Single submitter ⚠
- p.Asp57Tyr Single submitter ⚠
- p.Asp672Asn Single submitter ⚠
- p.Asp99His Single submitter ⚠
- p.Cys596Tyr Single submitter ⚠
- p.Cys946Tyr Single submitter ⚠
- p.Glu369Asp Single submitter ⚠
- p.Glu450Asp Single submitter ⚠
- p.Glu818Lys Single submitter
- p.Glu883fs Single submitter Syndromic neurodevelopmental disorder
- p.Gly1094Glu Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly235Val Single submitter ⚠
- p.Gly32Glu Single submitter ⚠
- p.Gly398Trp Single submitter
- p.Gly529Arg Single submitter ⚠
- p.Gly551Cys Single submitter ⚠
- p.Gly559Ser Single submitter ⚠
- p.Gly616Val Single submitter ⚠
- p.Gly784Arg Single submitter ⚠
- p.Gly912Glu Single submitter ⚠
- p.His1128Asp Single submitter ⚠
- p.His588Leu Single submitter ⚠
- p.His650Tyr Single submitter ⚠
- p.His845Arg Single submitter
- p.His850Arg Single submitter EHMT2-related disorder ⚠
- p.Ile700Phe Single submitter ⚠
- p.Ile964Val Single submitter ⚠
- p.Leu230Pro Single submitter ⚠
- p.Leu251Val Single submitter ⚠
- p.Leu400Phe Single submitter ⚠
- p.Leu59Arg Single submitter ⚠
- p.Leu907Ile Single submitter ⚠
- p.Lys1037Asn Single submitter ⚠
- p.Lys179Arg Single submitter ⚠
- p.Lys229Thr Single submitter ⚠
- p.Met1048Leu Single submitter ⚠
- p.Met132Ile Single submitter ⚠
- p.Met149Val Single submitter ⚠
- p.Met187Val Single submitter ⚠
- p.Met737Val Single submitter ⚠
- p.Met803Arg Single submitter ⚠
- p.Phe870Leu Single submitter ⚠
- p.Pro141Leu Single submitter ⚠
- p.Pro167Arg Single submitter ⚠
- p.Pro196Leu Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro594Leu Single submitter ⚠
- p.Pro688Ser Single submitter ⚠
- p.Pro82Ala Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser1187Asn Single submitter ⚠
- p.Ser1204Phe Single submitter ⚠
- p.Ser153Arg Single submitter ⚠
- p.Ser153Thr Single submitter ⚠
- p.Ser165Tyr Single submitter ⚠
- p.Ser451Arg Single submitter ⚠
- p.Thr172Met Single submitter ⚠
- p.Thr221Asn Single submitter ⚠
- p.Thr502Met Single submitter ⚠
- p.Thr50Ser Single submitter ⚠
- p.Thr578Ala Single submitter ⚠
- p.Thr720Met Single submitter ⚠
- p.Thr969Ser Single submitter ⚠
- p.Trp898Ser Single submitter ⚠
- p.Tyr736Cys Single submitter ⚠
- p.Val1032Leu Single submitter ⚠
- p.Val1122Ile Single submitter
- p.Val249Met Single submitter ⚠
- p.Val279Ala Single submitter ⚠
- p.Val283Met Single submitter ⚠
- p.Val738Met Single submitter ⚠
- p.Val847Ile Single submitter ⚠
- p.Val897Met Single submitter ⚠