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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2289204	NM_002511.4(NMBR):c.1141G>A (p.Gly381Arg)	NMBR (G381R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457679	NM_002511.4(NMBR):c.1106C>T (p.Ala369Val)	NMBR (A221V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519623	NM_002511.4(NMBR):c.1031A>C (p.Lys344Thr)	NMBR (K344T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511481	NM_002511.4(NMBR):c.979C>G (p.Leu327Val)	NMBR (L179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322505	NM_002511.4(NMBR):c.862T>A (p.Tyr288Asn)	NMBR (Y140N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200781	NM_002511.4(NMBR):c.733A>C (p.Asn245His)	NMBR (N245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320094	NM_002511.4(NMBR):c.709A>C (p.Lys237Gln)	NMBR (K237Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213336	NM_002511.4(NMBR):c.706G>A (p.Ala236Thr)	NMBR (A236T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514472	NM_002511.4(NMBR):c.670C>G (p.Pro224Ala)	NMBR (P224A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357291	NM_002511.4(NMBR):c.669A>G (p.Ile223Met)	NMBR (I223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622759	NM_002511.4(NMBR):c.605C>T (p.Pro202Leu)	NMBR (P54L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229150	NM_002511.4(NMBR):c.554C>T (p.Ala185Val)	NMBR (A185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200780	NM_002511.4(NMBR):c.514G>A (p.Val172Met)	NMBR (V24M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368538	NM_002511.4(NMBR):c.511T>C (p.Ser171Pro)	NMBR (S171P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338899	NM_002511.4(NMBR):c.461C>T (p.Ser154Leu)	NMBR (S6L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273810	NM_002511.4(NMBR):c.442C>G (p.Pro148Ala)	NMBR (P148A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616066	NM_002511.4(NMBR):c.434T>C (p.Ile145Thr)	NMBR (I145T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3200778	NM_002511.4(NMBR):c.414C>A (p.Ser138Arg)	NMBR (S138R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200777	NM_002511.4(NMBR):c.382G>A (p.Gly128Arg)	NMBR (G128R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339609	NM_002511.4(NMBR):c.350A>G (p.Lys117Arg)	NMBR (K117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200775	NM_002511.4(NMBR):c.290T>A (p.Val97Asp)	NMBR (V97D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525164	NM_002511.4(NMBR):c.227G>A (p.Ser76Asn)	NMBR (S76N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220040	NM_002511.4(NMBR):c.217G>T (p.Ala73Ser)	NMBR (A73S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301192	NM_002511.4(NMBR):c.170G>C (p.Gly57Ala)	NMBR (G57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515397	NM_002511.4(NMBR):c.142T>A (p.Ser48Thr)	NMBR (S48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511172	NM_002511.4(NMBR):c.133G>A (p.Val45Met)	NMBR (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360423	NM_002511.4(NMBR):c.128G>A (p.Arg43His)	NMBR (R43H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355068	NM_002511.4(NMBR):c.95C>G (p.Ala32Gly)	NMBR (A32G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336786	NM_002511.4(NMBR):c.77A>C (p.Glu26Ala)	NMBR (E26A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200776	NM_002511.4(NMBR):c.29C>G (p.Ser10Trp)	NMBR (S10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 30