C4015141[trait identifier] AND "GenomeConnect - Simons Searchlight"[su - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 620362	NM_015559.3(SETBP1):c.265C>T (p.Gln89Ter)	SETBP1 (Q89*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 489124	NM_015559.3(SETBP1):c.821G>A (p.Trp274Ter)	SETBP1 (W274*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 520830	NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer)	SETBP1	Deletion (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 280223	NM_015559.3(SETBP1):c.1568del (p.His523fs)	SETBP1 (H523fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 620410	NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)	SETBP1 (R589*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 212152	NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	SETBP1 (S608fs)	Deletion (frameshift variant)	Schinzel-Giedion syndrome	GPathogenic
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 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 984834	NM_015559.3(SETBP1):c.2561C>T (p.Ser854Phe)	SETBP1 (S854F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521296	NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	SETBP1 (E858K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 984820	NM_015559.3(SETBP1):c.2621A>G (p.Asp874Gly)	SETBP1 (D874G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GPathogenic
Select item 984821	NM_015559.3(SETBP1):c.2699A>G (p.Asp900Gly)	SETBP1 (D900G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 984823	NM_015559.3(SETBP1):c.2870T>C (p.Leu957Pro)	SETBP1 (L957P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 984822	NM_015559.3(SETBP1):c.3436C>T (p.Arg1146Trp)	SETBP1 (R1146W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984833	NM_015559.3(SETBP1):c.3499C>A (p.His1167Asn)	SETBP1 (H1167N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 29	GUncertain significance
Select item 984901	NM_015559.3(SETBP1):c.4790_*9del (p.Ter1597TrpextTer?)	SETBP1	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal dominant 29	GLikely pathogenic