"Autosomal dominant KAT6B-related disorders"[Disease/phenotype] AND "R - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 692078	NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter)	KAT6B (R622*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 986348	NM_012330.4(KAT6B):c.4162C>T (p.Gln1388Ter)	KAT6B (Q1033* +7 more)	Single nucleotide variant (nonsense)	Autosomal dominant KAT6B-related disorders	GLikely pathogenic