Related gene-specific medical variations for Gene (Select 10734) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170877	NM_001282717.2(STAG3):c.1711G>A (p.Asp571Asn)	LOC129998914, STAG3 (D571N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062323	NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)	STAG3 (E1125* +2 more)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 8	GLikely pathogenic
Select item 2623827	NM_001282717.2(STAG3):c.1745C>G (p.Pro582Arg)	LOC129998914, STAG3 (P582R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604526	NM_001282717.2(STAG3):c.3488C>T (p.Ser1163Leu)	LOC129998915, STAG3 (S1162L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511456	NM_001282717.2(STAG3):c.1688C>A (p.Ser563Tyr)	LOC129998914, STAG3 (S563Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325148	NM_001282717.2(STAG3):c.3106C>T (p.Gln1036Ter)	STAG3 (Q1036* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1289595	NM_001282717.2(STAG3):c.1678-156_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1276666	NM_001282717.2(STAG3):c.1678-154del	LOC129998914, STAG3	Deletion (intron variant)	not provided	GBenign
Select item 1274841	NM_001282717.2(STAG3):c.1678-155_1678-154dup	LOC129998914, STAG3	Duplication (intron variant)	not provided	GBenign
Select item 1239897	NM_001282717.2(STAG3):c.1678-67A>G	LOC129998914, STAG3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176235	NM_001282717.2(STAG3):c.1762C>T (p.Leu588=)	LOC129998914, STAG3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign