"Ambry Genetics"[submitter] AND "FLVCR2-AS1"[gene] - ClinVar - NCBI

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Items: 12

	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