"Illumina Laboratory Services, Illumina"[submitter] AND "KAT6B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 300851	NM_012330.4(KAT6B):c.-424_-419dup	KAT6B, LOC130004121	Duplication (5 prime UTR variant +1 more)	KAT6B-Related Spectrum Disorders	GUncertain significance
Select item 300855	NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)	KAT6B (R103C)	Single nucleotide variant (missense variant +1 more)	KAT6B-Related Spectrum Disorders +3 more	GConflicting classifications of pathogenicity
Select item 300904	NM_012330.4(KAT6B):c.*144del	KAT6B	Deletion (3 prime UTR variant)	not provided +1 more	GBenign
Select item 300911	NM_012330.4(KAT6B):c.*643del	KAT6B	Deletion (3 prime UTR variant)	KAT6B-Related Spectrum Disorders	GUncertain significance
Select item 300914	NM_012330.4(KAT6B):c.*1203dup	KAT6B	Duplication (3 prime UTR variant)	KAT6B-Related Spectrum Disorders	GUncertain significance
Select item 300915	NM_012330.4(KAT6B):c.1200_1203del	KAT6B	Deletion (3 prime UTR variant)	KAT6B-Related Spectrum Disorders	GUncertain significance

ClinVar