"Baylor Genetics"[submitter] AND "SETBP1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033368	NM_015559.3(SETBP1):c.1141T>G (p.Ser381Ala)	SETBP1 (S381A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GConflicting classifications of pathogenicity
Select item 1030514	NM_015559.3(SETBP1):c.1243A>T (p.Asn415Tyr)	SETBP1 (N415Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GConflicting classifications of pathogenicity
Select item 157559	NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter)	SETBP1 (R625*)	Single nucleotide variant (nonsense)	Schinzel-Giedion syndrome +2 more	GPathogenic
Select item 1033369	NM_015559.3(SETBP1):c.1910C>A (p.Pro637Gln)	SETBP1 (P637Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GConflicting classifications of pathogenicity
Select item 1033370	NM_015559.3(SETBP1):c.1990A>G (p.Lys664Glu)	SETBP1 (K664E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 1315372	NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)	SETBP1 (P855T)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1032	NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	SETBP1 (D868N)	Single nucleotide variant (missense variant)	SETBP1-related disorder +3 more	GPathogenic
Select item 1031	NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	SETBP1 (I871T)	Single nucleotide variant (missense variant)	Fetal akinesia deformation sequence 1 +4 more	GConflicting classifications of pathogenicity
Select item 1030515	NM_015559.3(SETBP1):c.2917A>T (p.Ser973Cys)	SETBP1 (S973C)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +1 more	GUncertain significance
Select item 1030516	NM_015559.3(SETBP1):c.3079G>C (p.Asp1027His)	SETBP1 (D1027H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 2059798	NM_015559.3(SETBP1):c.3260G>A (p.Arg1087Lys)	SETBP1 (R1087K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GUncertain significance
Select item 2582526	NM_015559.3(SETBP1):c.4438G>A (p.Asp1480Asn)	SETBP1 (D1423N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GUncertain significance
Select item 1030517	NM_015559.3(SETBP1):c.4768A>T (p.Ser1590Cys)	SETBP1 (S1590C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29 +1 more	GUncertain significance