"Revvity Omics, Revvity"[submitter] AND "STAG1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436500	NM_005862.3(STAG1):c.3401A>C (p.Gln1134Pro)	STAG1 (Q1134P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436496	NM_005862.3(STAG1):c.2334G>T (p.Gln778His)	STAG1 (Q778H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436499	NM_005862.3(STAG1):c.2061C>T (p.Asp687=)	STAG1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1973520	NM_005862.3(STAG1):c.2038-5dup	STAG1	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2436501	NM_005862.3(STAG1):c.1132A>G (p.Ile378Val)	STAG1 (I378V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 1325144	NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer)	STAG1	Deletion (nonsense)	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 2421650	NM_005862.3(STAG1):c.284A>G (p.Lys95Arg)	STAG1 (K95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2436498	NM_005862.3(STAG1):c.254T>C (p.Val85Ala)	STAG1 (V85A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance
Select item 2436497	NM_005862.3(STAG1):c.139A>G (p.Asn47Asp)	STAG1 (N47D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 47	GUncertain significance