"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804029	NM_018486.3(HDAC8):c.738-1G>A	HDAC8	Single nucleotide variant (splice acceptor variant)	Cornelia de Lange syndrome 5	GPathogenic
Select item 523523	NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)	HDAC8 (V195G +1 more)	Single nucleotide variant (missense variant +2 more)	Abnormality of the face +5 more	GLikely pathogenic
Select item 446297	NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)	HDAC8 (Y174* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 5	GPathogenic
Select item 280793	NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)	HDAC8 (R166* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 932082	NM_018486.3(HDAC8):c.182T>G (p.Val61Gly)	HDAC8 (V61G)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 931504	NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)	HDAC8 (A8T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

ClinVar