"Ambry Genetics"[submitter] AND "BRI3BP"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261760	NM_080626.6(BRI3BP):c.4G>C (p.Gly2Arg)	BRI3BP, LOC130009167 (G2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541696	NM_080626.6(BRI3BP):c.28C>G (p.Leu10Val)	BRI3BP, LOC130009168 (L10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135044	NM_080626.6(BRI3BP):c.136T>C (p.Tyr46His)	BRI3BP (Y46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284371	NM_080626.6(BRI3BP):c.139C>A (p.Arg47Ser)	BRI3BP (R47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261761	NM_080626.6(BRI3BP):c.140G>A (p.Arg47His)	BRI3BP (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135045	NM_080626.6(BRI3BP):c.148G>A (p.Val50Ile)	BRI3BP (V50I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224377	NM_080626.6(BRI3BP):c.159C>G (p.Phe53Leu)	BRI3BP (F53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517347	NM_080626.6(BRI3BP):c.173G>C (p.Ser58Thr)	BRI3BP (S58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402548	NM_080626.6(BRI3BP):c.194A>G (p.Asn65Ser)	BRI3BP, LOC130009169 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534606	NM_080626.6(BRI3BP):c.236G>A (p.Arg79Lys)	BRI3BP (R79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372619	NM_080626.6(BRI3BP):c.262G>A (p.Val88Met)	BRI3BP (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388592	NM_080626.6(BRI3BP):c.364C>T (p.Pro122Ser)	BRI3BP (P122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135047	NM_080626.6(BRI3BP):c.433T>C (p.Phe145Leu)	BRI3BP (F145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454420	NM_080626.6(BRI3BP):c.445G>A (p.Val149Ile)	BRI3BP (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496305	NM_080626.6(BRI3BP):c.523C>A (p.His175Asn)	BRI3BP (H175N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135048	NM_080626.6(BRI3BP):c.532G>A (p.Glu178Lys)	BRI3BP (E178K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494644	NM_080626.6(BRI3BP):c.589A>G (p.Met197Val)	BRI3BP (M197V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135049	NM_080626.6(BRI3BP):c.628A>G (p.Ser210Gly)	BRI3BP (S210G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135050	NM_080626.6(BRI3BP):c.631G>A (p.Gly211Ser)	BRI3BP (G211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign