SGTA[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 690305	NM_003021.4(SGTA):c.823C>T (p.Gln275Ter)	SGTA (Q275*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2539761	NM_003021.4(SGTA):c.815G>C (p.Ser272Thr)	SGTA (S272T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306836	NM_003021.4(SGTA):c.814A>G (p.Ser272Gly)	SGTA (S272G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473143	NM_003021.4(SGTA):c.784G>A (p.Gly262Ser)	SGTA (G262S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335307	NM_003021.4(SGTA):c.758G>A (p.Gly253Asp)	SGTA (G253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569758	NM_003021.4(SGTA):c.745G>A (p.Gly249Ser)	SGTA (G249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712653	NM_003021.4(SGTA):c.705G>A (p.Ser235=)	SGTA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2331891	NM_003021.4(SGTA):c.323A>G (p.Glu108Gly)	SGTA (E108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161114	NM_003021.4(SGTA):c.310G>A (p.Val104Met)	SGTA (V104M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713387	NM_003021.4(SGTA):c.216G>A (p.Pro72=)	SGTA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2538160	NM_003021.4(SGTA):c.197C>T (p.Ala66Val)	SGTA (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538159	NM_003021.4(SGTA):c.196G>A (p.Ala66Thr)	SGTA (A66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244989	NM_003021.4(SGTA):c.125C>T (p.Ala42Val)	SGTA (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance