C4015141[trait identifier] AND "Institute of Immunology and Genetics K - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366975	NM_015559.3(SETBP1):c.239G>A (p.Trp80Ter)	SETBP1 (W80*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GLikely pathogenic
Select item 3366957	NM_015559.3(SETBP1):c.2183del (p.Gly728fs)	SETBP1 (G728fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 29	GPathogenic