C3550903[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433191	NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	HDAC8 (R361* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 572705	NM_018486.3(HDAC8):c.737+3A>G	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance