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

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134490	NM_001003940.2(BMF):c.538G>A (p.Gly180Arg)	BMF, LOC110121409 (R126Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261160	NM_001003940.2(BMF):c.390G>A (p.Glu130=)	BMF	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2271793	NM_001003940.2(BMF):c.308G>T (p.Arg103Leu)	BMF (R103L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134488	NM_001003940.2(BMF):c.298G>A (p.Ala100Thr)	BMF (A100T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3134487	NM_001003940.2(BMF):c.284T>C (p.Leu95Pro)	BMF (L95P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310371	NM_001003940.2(BMF):c.281G>A (p.Arg94Gln)	BMF (R94Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610791	NM_001003940.2(BMF):c.229T>A (p.Ser77Thr)	BMF (S77T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288202	NM_001003940.2(BMF):c.133A>G (p.Ser45Gly)	BMF (S45G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547830	NM_001003940.2(BMF):c.71C>T (p.Thr24Ile)	BMF (T24I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134489	NM_001003940.2(BMF):c.50C>T (p.Pro17Leu)	BMF (P17L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3261162	NM_001003940.2(BMF):c.48A>T (p.Gln16His)	BMF (Q16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282220	NM_001003940.2(BMF):c.4G>C (p.Glu2Gln)	BMF (E2Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance