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

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Items: 13

	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 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 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 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 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 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 2345183	NM_001728.4(BSG):c.1045C>T (p.Arg349Trp)	BSG (R140W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance