"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075715	NM_024757.5(EHMT1):c.596dup (p.Val200fs)	EHMT1 (V169fs +1 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GPathogenic
Select item 252987	NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	EHMT1 (R225* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666585	NM_024757.5(EHMT1):c.1042_1043dup (p.Asp349fs)	EHMT1 (D342fs +2 more)	Duplication (frameshift variant)	Kleefstra syndrome 1	GLikely pathogenic
Select item 689715	NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)	EHMT1 (R483* +2 more)	Single nucleotide variant (nonsense)	Marfanoid habitus and intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 3075728	NM_024757.5(EHMT1):c.2275+4del	EHMT1	Deletion (intron variant)	Kleefstra syndrome 1	GPathogenic
Select item 666593	NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter)	EHMT1 (Q849* +1 more)	Single nucleotide variant (nonsense)	Kleefstra syndrome 1	GPathogenic
Select item 689712	NM_024757.5(EHMT1):c.2608-1G>C	EHMT1	Single nucleotide variant (splice acceptor variant)	Marfanoid habitus and intellectual disability	GLikely pathogenic

ClinVar