"3billion"[submitter] AND "KAT6B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705681	NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)	KAT6B (K44*)	Single nucleotide variant (nonsense +1 more)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic
Select item 2866326	NM_012330.4(KAT6B):c.2963C>A (p.Thr988Asn)	KAT6B (T293N +7 more)	Single nucleotide variant (missense variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GConflicting classifications of pathogenicity
Select item 524091	NM_012330.4(KAT6B):c.3253del (p.Glu1085fs)	KAT6B (E1085fs +7 more)	Deletion (frameshift variant)	Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more	GPathogenic
Select item 2572537	NM_012330.4(KAT6B):c.3594del (p.Lys1199fs)	KAT6B (K1016fs +7 more)	Deletion (frameshift variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 369663	NM_012330.4(KAT6B):c.3664+1G>A	KAT6B	Single nucleotide variant (splice donor variant)	Genitopatellar syndrome +1 more	GPathogenic
Select item 1333668	NM_012330.4(KAT6B):c.3857del (p.Gln1286fs)	KAT6B (Q1103fs +7 more)	Deletion (frameshift variant)	Genitopatellar syndrome	GLikely pathogenic
Select item 2572478	NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)	KAT6B (E1011* +7 more)	Single nucleotide variant (nonsense)	Blepharophimosis - intellectual disability syndrome, SBBYS type	GLikely pathogenic

ClinVar