"OMIM"[submitter] AND "KAT6A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162180	NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)	KAT6A (E1370*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 180678	NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)	KAT6A (E1294fs)	Duplication (frameshift variant)	Syndromic intellectual disability +1 more	GPathogenic
Select item 180229	NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)	KAT6A (R1129*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 162616	NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)	KAT6A	Deletion (nonsense)	Inborn genetic diseases	GPathogenic
Select item 180230	NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)	KAT6A (R1024*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 626907	NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser)	KAT6A	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1082502	NM_006766.5:c.3411del	KAT6A	Deletion	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GPathogenic

ClinVar