"Ambry Genetics"[submitter] AND "LOC130002414"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261963	NM_017688.3(BSPRY):c.53C>T (p.Pro18Leu)	BSPRY, LOC130002414 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238835	NM_017688.3(BSPRY):c.61C>T (p.Leu21Phe)	BSPRY, LOC130002414 (L21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135326	NM_017688.3(BSPRY):c.72A>C (p.Glu24Asp)	BSPRY, LOC130002414 (E24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323606	NM_017688.3(BSPRY):c.86T>G (p.Leu29Arg)	BSPRY, LOC130002414 (L29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512376	NM_017688.3(BSPRY):c.145G>C (p.Gly49Arg)	BSPRY, LOC130002414 (G49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394870	NM_017688.3(BSPRY):c.154C>T (p.Arg52Trp)	BSPRY, LOC130002414 (R52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135316	NM_017688.3(BSPRY):c.169C>T (p.Arg57Cys)	BSPRY, LOC130002414 (R57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592472	NM_017688.3(BSPRY):c.173G>T (p.Arg58Leu)	BSPRY, LOC130002414 (R58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar