BSG[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2307913	NM_001728.4(BSG):c.11C>G (p.Ala4Gly)	BSG (A4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042170	NM_001728.4(BSG):c.76G>T (p.Val26Phe)	BSG (V26F)	Single nucleotide variant (missense variant +1 more)	BSG-related disorder	GBenign
Select item 3045172	NM_001728.4(BSG):c.87G>A (p.Pro29=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GLikely benign
Select item 3039551	NM_001728.4(BSG):c.366G>A (p.Ala122=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GLikely benign
Select item 797389	NM_001728.4(BSG):c.416-8C>T	BSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2483418	NM_001728.4(BSG):c.430A>G (p.Thr144Ala)	BSG (T144A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 713537	NM_001728.4(BSG):c.435C>T (p.Thr145=)	BSG	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3047114	NM_001728.4(BSG):c.444C>T (p.Asp148=)	BSG	Single nucleotide variant (synonymous variant +2 more)	BSG-related disorder	GLikely benign
Select item 3135216	NM_001728.4(BSG):c.520G>C (p.Gly174Arg)	BSG (G58R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483061	NM_001728.4(BSG):c.524G>C (p.Gly175Ala)	BSG (G59A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135217	NM_001728.4(BSG):c.536A>G (p.Lys179Arg)	BSG (K179R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3059371	NM_001728.4(BSG):c.543C>T (p.Asp181=)	BSG	Single nucleotide variant (synonymous variant +2 more)	BSG-related disorder	GBenign
Select item 3059477	NM_001728.4(BSG):c.582C>G (p.Ser194=)	BSG	Single nucleotide variant (synonymous variant +1 more)	BSG-related disorder	GBenign
Select item 17751	NM_001728.4(BSG):c.622G>A (p.Glu208Lys)	BSG (E92K +1 more)	Single nucleotide variant (missense variant +1 more)	BLOOD GROUP--OK	GAffects
Select item 2484043	NM_001728.4(BSG):c.635C>T (p.Thr212Met)	BSG (T3M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261914	NM_001728.4(BSG):c.672G>T (p.Lys224Asn)	BSG (K15N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059879	NM_001728.4(BSG):c.675T>C (p.Ala225=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GBenign
Select item 3037529	NM_001728.4(BSG):c.720G>A (p.Leu240=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GBenign
Select item 3135218	NM_001728.4(BSG):c.766T>C (p.Tyr256His)	BSG (Y140H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605586	NM_001728.4(BSG):c.842G>T (p.Gly281Val)	BSG (G72V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550661	NM_001728.4(BSG):c.845G>A (p.Arg282Gln)	BSG (R166Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785595	NM_001728.4(BSG):c.849A>G (p.Ser283=)	BSG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135219	NM_001728.4(BSG):c.863A>G (p.Glu288Gly)	BSG (E172G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486676	NM_001728.4(BSG):c.944C>T (p.Thr315Met)	BSG (T106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041370	NM_001728.4(BSG):c.1026C>T (p.Ile342=)	BSG	Single nucleotide variant (synonymous variant)	BSG-related disorder	GLikely benign
Select item 2345183	NM_001728.4(BSG):c.1045C>T (p.Arg349Trp)	BSG (R140W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060190	NM_001728.4(BSG):c.1095-9G>A	BSG	Single nucleotide variant (intron variant)	BSG-related disorder	GBenign
Select item 2628783	NM_001728.4(BSG):c.1138C>T (p.Arg380Cys)	BSG (R171C +2 more)	Single nucleotide variant (missense variant)	BSG-related disorder	GUncertain significance
Select item 1241595	NM_001728.4(BSG):c.*238C>T	BSG	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 29