"3billion"[submitter] AND "SETBP1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620306	NM_015559.3(SETBP1):c.666G>A (p.Trp222Ter)	SETBP1 (W222*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29 +1 more	GPathogenic
Select item 2572532	NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)	SETBP1 (G653fs)	Duplication (frameshift variant)	Schinzel-Giedion syndrome	GLikely pathogenic
Select item 1694871	NM_015559.3(SETBP1):c.2322A>G (p.Ala774=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1035	NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	SETBP1 (G870S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1320239	NM_015559.3(SETBP1):c.3731dup (p.Ala1245fs)	SETBP1 (A1245fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 1333328	NM_015559.3(SETBP1):c.4273A>T (p.Lys1425Ter)	SETBP1 (K1425*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 29	GLikely pathogenic

ClinVar