"Mendelics"[submitter] AND "KAT6B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30530	NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)	KAT6B (K912fs +7 more)	Microsatellite (frameshift variant)	Genitopatellar syndrome +1 more	GPathogenic
Select item 260241	NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)	KAT6B	Microsatellite (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 802590	NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter)	KAT6B (E1003* +7 more)	Single nucleotide variant (nonsense)	Genitopatellar syndrome	GLikely pathogenic
Select item 260243	NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)	KAT6B	Microsatellite (inframe_deletion)	not provided +2 more	GBenign/Likely benign
Select item 802591	NM_012330.4(KAT6B):c.4861del (p.Ala1621fs)	KAT6B (A1266fs +7 more)	Deletion (frameshift variant)	Genitopatellar syndrome	GPathogenic
Select item 802592	NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly)	KAT6B (S1319G +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome	GLikely pathogenic

ClinVar