Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review. 29160022

2018
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A structured assessment of motor function and behavior in patients with Kleefstra syndrome. 26808425

2016
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR If not Angelman, what is it? A review of Angelman-like syndromes. 24779060

2014
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 22726846

2012
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141

2012
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. 19264732

2009
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 16826528

2006
dbSNP: rs749848324
rs749848324
EHMT1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. 15805155

2005