"Baylor Genetics"[submitter] AND "HDAC8"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523222	NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)	HDAC8 (R313* +1 more)	Single nucleotide variant (nonsense +1 more)	Cornelia de Lange syndrome 1 +1 more	GPathogenic
Select item 39712	NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	HDAC8 (T311M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523221	NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg)	HDAC8 (G265R +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 689725	NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)	HDAC8 (P166S +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 1679567	NM_018486.3(HDAC8):c.738-1619G>A	HDAC8	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 2441813	NM_018486.3(HDAC8):c.602A>T (p.His201Leu)	HDAC8 (H110L +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GUncertain significance
Select item 523220	NM_018486.3(HDAC8):c.584T>A (p.Val195Asp)	HDAC8 (V195D +1 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 3237489	NM_018486.3(HDAC8):c.550+1G>T	HDAC8	Single nucleotide variant (splice donor variant)	Cornelia de Lange syndrome 5	GPathogenic
Select item 374393	NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly)	HDAC8 (D176G +1 more)	Single nucleotide variant (missense variant +1 more)	Cornelia de Lange syndrome 5	GLikely pathogenic
Select item 39710	NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)	HDAC8 (R164* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 523219	NM_018486.3(HDAC8):c.418G>A (p.Gly140Arg)	HDAC8 (G140R)	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