"Baylor Genetics"[submitter] AND "STAG2"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031012	NM_001042750.2(STAG2):c.5T>C (p.Ile2Thr)	STAG2 (I2T)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 523189	NM_001042750.2(STAG2):c.418C>T (p.Gln140Ter)	STAG2 (Q140*)	Single nucleotide variant (nonsense)	STAG2-related disorder	GLikely pathogenic
Select item 523193	NM_001042750.2(STAG2):c.476A>G (p.Tyr159Cys)	STAG2 (Y159C)	Single nucleotide variant (missense variant)	STAG2-related disorder	GLikely pathogenic
Select item 1031013	NM_001042750.2(STAG2):c.618A>G (p.Gly206=)	STAG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2582346	NM_001042750.2(STAG2):c.715A>G (p.Ile239Val)	STAG2 (I239V)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 2441729	NM_001042750.2(STAG2):c.788G>A (p.Arg263Lys)	STAG2 (R263K)	Single nucleotide variant (missense variant)	Mullegama-Klein-Martinez syndrome	GUncertain significance
Select item 2441833	NM_001042750.2(STAG2):c.867del (p.Phe289fs)	STAG2 (F289fs)	Deletion (frameshift variant)	Holoprosencephaly 13, X-linked	GPathogenic
Select item 523200	GRCh38/hg38 Xq25(chrX:124061012-124094911)x1	STAG2	Copy number loss	STAG2-related disorder	GLikely pathogenic
Select item 523190	NM_001042750.2(STAG2):c.1605T>A (p.Cys535Ter)	STAG2 (C535*)	Single nucleotide variant (nonsense)	STAG2-related disorder	GLikely pathogenic
Select item 523192	NM_001042750.2(STAG2):c.1658_1660delinsT (p.Lys553fs)	STAG2 (K553fs)	Indel (frameshift variant)	STAG2-related disorder	GLikely pathogenic
Select item 523191	NM_001042750.2(STAG2):c.1811G>A (p.Arg604Gln)	STAG2 (R604Q)	Single nucleotide variant (missense variant)	STAG2-related disorder	GUncertain significance