"Ambry Genetics"[submitter] AND "BFSP2-AS1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2341951	NM_003571.4(BFSP2):c.550G>A (p.Gly184Arg)	BFSP2, BFSP2-AS1 (G184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330679	NM_003571.4(BFSP2):c.707C>G (p.Ser236Cys)	BFSP2, BFSP2-AS1 (S236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547206	NM_003571.4(BFSP2):c.727G>A (p.Glu243Lys)	BFSP2, BFSP2-AS1 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049435	NM_003571.4(BFSP2):c.790A>G (p.Ile264Val)	BFSP2, BFSP2-AS1 (I264V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2496304	NM_003571.4(BFSP2):c.806A>G (p.Asp269Gly)	BFSP2, BFSP2-AS1 (D269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133788	NM_003571.4(BFSP2):c.845A>G (p.Asp282Gly)	BFSP2, BFSP2-AS1 (D282G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133789	NM_003571.4(BFSP2):c.847G>A (p.Val283Ile)	BFSP2, BFSP2-AS1 (V283I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235099	NM_003571.4(BFSP2):c.933G>C (p.Glu311Asp)	BFSP2, BFSP2-AS1 +1 more (E311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487039	NM_003571.4(BFSP2):c.947C>A (p.Ala316Asp)	BFSP2, BFSP2-AS1 +1 more (A316D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133790	NM_003571.4(BFSP2):c.949C>G (p.Leu317Val)	BFSP2, BFSP2-AS1 +1 more (L317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227638	NM_003571.4(BFSP2):c.1015C>T (p.Arg339Cys)	BFSP2, BFSP2-AS1 +1 more (R339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371804	NM_003571.4(BFSP2):c.1111G>A (p.Glu371Lys)	BFSP2, BFSP2-AS1 (E371K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 660770	NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val)	BFSP2, BFSP2-AS1 (A372V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2227757	NM_003571.4(BFSP2):c.1160A>G (p.Glu387Gly)	BFSP2, BFSP2-AS1 (E387G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596551	NM_003571.4(BFSP2):c.1231A>G (p.Arg411Gly)	BFSP2, BFSP2-AS1 (R411G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance