"Centogene AG - the Rare Disease Company"[submitter] AND "HDAC8"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334009	NM_018486.3(HDAC8):c.508G>A (p.Glu170Lys)	HDAC8 (E170K +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 92043	NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)	HDAC8 (T119M)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GPathogenic