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

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2228484	NM_203281.3(BMX):c.343C>T (p.His115Tyr)	BMX (H115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134637	NM_203281.3(BMX):c.382G>T (p.Gly128Trp)	BMX (G128W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339979	NM_203281.3(BMX):c.425G>A (p.Gly142Glu)	BMX (G142E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134638	NM_203281.3(BMX):c.464C>T (p.Ala155Val)	BMX (A155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487358	NM_203281.3(BMX):c.472G>A (p.Glu158Lys)	BMX (E158K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491784	NM_203281.3(BMX):c.542A>G (p.Lys181Arg)	ACE2, BMX (K181R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367891	NM_203281.3(BMX):c.635G>C (p.Ser212Thr)	ACE2, BMX (S212T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3134639	NM_203281.3(BMX):c.640G>A (p.Ala214Thr)	ACE2, BMX (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516141	NM_203281.3(BMX):c.904T>G (p.Ser302Ala)	ACE2, BMX (S301A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261255	NM_203281.3(BMX):c.1198C>T (p.Pro400Ser)	ACE2, BMX (P399S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345989	NM_203281.3(BMX):c.1408C>G (p.Pro470Ala)	ACE2, BMX (P469A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472382	NM_203281.3(BMX):c.1499A>T (p.Tyr500Phe)	ACE2, BMX (Y500F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134635	NM_203281.3(BMX):c.1711G>C (p.Gly571Arg)	ACE2, BMX (G570R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249252	NM_203281.3(BMX):c.1711G>A (p.Gly571Arg)	ACE2, BMX (G571R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134636	NM_203281.3(BMX):c.1862T>C (p.Val621Ala)	ACE2, BMX (V620A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592450	NM_203281.3(BMX):c.1897C>T (p.Arg633Trp)	ACE2, BMX (R632W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260514	NM_203281.3(BMX):c.1951G>A (p.Glu651Lys)	ACE2, BMX (E650K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance