Disease: KLEEFSTRA SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518913
rs1057518913
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918301
rs121918301
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852714
rs137852714
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		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: rs137852715
rs137852715
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. 16826528 2006
dbSNP: rs137852716
rs137852716
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		G 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: rs137852722
rs137852722
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852724
rs137852724
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs137852726
rs137852726
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs137852727
rs137852727
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1429360126
rs1429360126
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554867189
rs1554867189
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554879411
rs1554879411
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs1554880275
rs1554880275
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		ACCCAAAGCAGCTGTACT 0.700 CausalMutation CLINVAR
dbSNP: rs1554888939
rs1554888939
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554896943
rs1554896943
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1564697048
rs1564697048
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1564704457
rs1564704457
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564744631
rs1564744631
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786205129
rs786205129
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR Update on Kleefstra Syndrome. 22670141 2012
dbSNP: rs797045043
rs797045043
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
dbSNP: rs879255531
rs879255531
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs879255531
rs879255531
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886037776
rs886037776
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 CausalMutation CLINVAR Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 27651234 2016
dbSNP: rs886041093
rs886041093
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs587780332
rs587780332
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0795833
Disease:
KLEEFSTRA SYNDROME 1 		0.010 GeneticVariation BEFREE In this report, we describe two unrelated patients with complex medical histories consistent with KS in whom next generation sequencing identified the same novel c.2426C>T (p.P809L) missense variant in <i>EHMT1</i> To examine the functional significance of this novel variant, we performed molecular dynamics simulations of the wild type and p.P809L variant, which predicted that the latter would have a propensity to misfold, leading to abnormal histone mark binding. 28057753 2017