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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269620	NM_001042750.2(STAG2):c.98A>G (p.Lys33Arg)	STAG2 (K33R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985957	NM_001042750.2(STAG2):c.631C>G (p.Gln211Glu)	STAG2 (Q211E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985954	NM_001042750.2(STAG2):c.884A>G (p.His295Arg)	STAG2 (H295R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1664706	NM_001042750.2(STAG2):c.1732-3C>T	STAG2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2167274	NM_001042750.2(STAG2):c.2000G>A (p.Arg667Gln)	STAG2 (R667Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2552126	NM_001042750.2(STAG2):c.2051C>G (p.Ala684Gly)	STAG2 (A684G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472106	NM_001042750.2(STAG2):c.2097-13_2097-5del	STAG2	Deletion (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2231809	NM_001042750.2(STAG2):c.2549A>T (p.Asp850Val)	STAG2 (D850V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521058	NM_001042750.2(STAG2):c.2584A>G (p.Arg862Gly)	STAG2 (R862G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 985868	NM_001042750.2(STAG2):c.2924+2_2924+11del	STAG2	Deletion (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 2229914	NM_001042750.2(STAG2):c.3278-4C>G	STAG2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 522140	NM_001042750.2(STAG2):c.3337C>T (p.Pro1113Ser)	STAG2 (P1113S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1599551	NM_001042750.2(STAG2):c.3784-18CT[5]	STAG2	Microsatellite (intron variant)	not provided +1 more	GBenign