"Ambry Genetics"[submitter] AND "FLVCR2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1988628	NM_017791.3(FLVCR2):c.8A>G (p.Asn3Ser)	FLVCR2, FLVCR2-AS1 (N3S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2174977	NM_017791.3(FLVCR2):c.103G>A (p.Val35Ile)	FLVCR2, FLVCR2-AS1 (V35I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314409	NM_017791.3(FLVCR2):c.164C>T (p.Pro55Leu)	FLVCR2, FLVCR2-AS1 (P55L)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GUncertain significance
Select item 3279278	NM_017791.3(FLVCR2):c.223C>T (p.Leu75Phe)	FLVCR2, FLVCR2-AS1 (L75F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302241	NM_017791.3(FLVCR2):c.290G>A (p.Cys97Tyr)	FLVCR2, FLVCR2-AS1 (C97Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3279280	NM_017791.3(FLVCR2):c.304T>C (p.Trp102Arg)	FLVCR2, FLVCR2-AS1 (W102R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 314412	NM_017791.3(FLVCR2):c.421G>A (p.Val141Met)	FLVCR2, FLVCR2-AS1 (V141M)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GUncertain significance
Select item 2520786	NM_017791.3(FLVCR2):c.436G>A (p.Glu146Lys)	FLVCR2, FLVCR2-AS1 (E146K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2479246	NM_017791.3(FLVCR2):c.452G>T (p.Arg151Leu)	FLVCR2, FLVCR2-AS1 (R151L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3095764	NM_017791.3(FLVCR2):c.508G>A (p.Gly170Ser)	FLVCR2, FLVCR2-AS1 (G170S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221704	NM_017791.3(FLVCR2):c.589A>T (p.Met197Leu)	FLVCR2, FLVCR2-AS1 (M197L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307593	NM_017791.3(FLVCR2):c.615G>T (p.Trp205Cys)	FLVCR2, FLVCR2-AS1 (W205C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490383	NM_017791.3(FLVCR2):c.619G>A (p.Gly207Arg)	FLVCR2 (G207R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279277	NM_017791.3(FLVCR2):c.662G>T (p.Gly221Val)	FLVCR2 (G221V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227177	NM_017791.3(FLVCR2):c.721_731del (p.Glu241fs)	FLVCR2 (E241fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 887373	NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val)	FLVCR2 (I256V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2602996	NM_017791.3(FLVCR2):c.998G>T (p.Arg333Leu)	FLVCR2 (R333L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279279	NM_017791.3(FLVCR2):c.1018C>A (p.Pro340Thr)	FLVCR2 (P340T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284036	NM_017791.3(FLVCR2):c.1059C>G (p.Ile353Met)	FLVCR2 (I353M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2145552	NM_017791.3(FLVCR2):c.1067C>A (p.Ala356Glu)	FLVCR2 (A151E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2303075	NM_017791.3(FLVCR2):c.1112C>G (p.Ser371Cys)	FLVCR2 (S371C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273922	NM_017791.3(FLVCR2):c.1118C>G (p.Thr373Ser)	FLVCR2 (T168S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357575	NM_017791.3(FLVCR2):c.1160T>C (p.Val387Ala)	FLVCR2 (V387A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186821	NM_017791.3(FLVCR2):c.1171G>A (p.Val391Met)	FLVCR2 (V391M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2540405	NM_017791.3(FLVCR2):c.1367C>T (p.Ser456Phe)	FLVCR2 (S251F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183128	NM_017791.3(FLVCR2):c.1445C>T (p.Ala482Val)	FLVCR2 (A277V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2217984	NM_017791.3(FLVCR2):c.1475G>A (p.Arg492Gln)	FLVCR2 (R287Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 27