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

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3135319	NM_017688.3(BSPRY):c.29C>T (p.Pro10Leu)	BSPRY (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589200	NM_017688.3(BSPRY):c.205A>G (p.Lys69Glu)	BSPRY (K69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135317	NM_017688.3(BSPRY):c.278C>T (p.Pro93Leu)	BSPRY (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303440	NM_017688.3(BSPRY):c.281G>C (p.Gly94Ala)	BSPRY (G94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622369	NM_017688.3(BSPRY):c.302G>A (p.Ser101Asn)	BSPRY (S101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312360	NM_017688.3(BSPRY):c.357T>G (p.Ser119Arg)	BSPRY (S119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135320	NM_017688.3(BSPRY):c.379C>T (p.Arg127Trp)	BSPRY (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135321	NM_017688.3(BSPRY):c.419A>C (p.His140Pro)	BSPRY (H140P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135322	NM_017688.3(BSPRY):c.434C>T (p.Thr145Ile)	BSPRY (T145I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206538	NM_017688.3(BSPRY):c.481C>T (p.Arg161Cys)	BSPRY (R161C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358528	NM_017688.3(BSPRY):c.571G>A (p.Glu191Lys)	BSPRY (E191K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135323	NM_017688.3(BSPRY):c.612T>C (p.Phe204=)	BSPRY	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2368896	NM_017688.3(BSPRY):c.659C>T (p.Thr220Met)	BSPRY (T220M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260341	NM_017688.3(BSPRY):c.697C>T (p.Arg233Trp)	BSPRY (R238W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135325	NM_017688.3(BSPRY):c.698G>A (p.Arg233Gln)	BSPRY (R238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549200	NM_017688.3(BSPRY):c.703G>A (p.Asp235Asn)	BSPRY (D240N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474620	NM_017688.3(BSPRY):c.710G>A (p.Arg237Lys)	BSPRY (R242K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302719	NM_017688.3(BSPRY):c.767C>T (p.Thr256Ile)	BSPRY (T256I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208511	NM_017688.3(BSPRY):c.781G>C (p.Ala261Pro)	BSPRY (A261P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343940	NM_017688.3(BSPRY):c.821A>G (p.Asn274Ser)	BSPRY (N274S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135327	NM_017688.3(BSPRY):c.893A>G (p.Tyr298Cys)	BSPRY (Y298C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336898	NM_017688.3(BSPRY):c.926G>A (p.Arg309His)	BSPRY (R314H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135328	NM_017688.3(BSPRY):c.928A>C (p.Lys310Gln)	BSPRY (K310Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309188	NM_017688.3(BSPRY):c.949C>T (p.Arg317Cys)	BSPRY (R317C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411684	NM_017688.3(BSPRY):c.985C>T (p.Arg329Cys)	BSPRY (R329C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336814	NM_017688.3(BSPRY):c.989A>T (p.Tyr330Phe)	BSPRY (Y335F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524437	NM_017688.3(BSPRY):c.1018G>A (p.Gly340Arg)	BSPRY (G345R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528717	NM_017688.3(BSPRY):c.1030C>A (p.Pro344Thr)	BSPRY (P349T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135314	NM_017688.3(BSPRY):c.1064G>A (p.Gly355Asp)	BSPRY (G355D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135315	NM_017688.3(BSPRY):c.1087C>A (p.Gln363Lys)	BSPRY (Q363K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369219	NM_017688.3(BSPRY):c.1117G>A (p.Gly373Ser)	BSPRY (G373S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2274830	NM_017688.3(BSPRY):c.1126C>T (p.Leu376Phe)	BSPRY (L376F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283740	NM_017688.3(BSPRY):c.1141G>A (p.Val381Met)	BSPRY (V381M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33