"Illumina Laboratory Services, Illumina"[submitter] AND "FLVCR2-AS1"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314403	NM_017791.2(FLVCR2):c.-356G>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 314404	NM_017791.3(FLVCR2):c.-121CT[1]	FLVCR2, FLVCR2-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 314405	NM_017791.3(FLVCR2):c.-111T>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 314406	NM_017791.3(FLVCR2):c.-96T>C	FLVCR2-AS1, FLVCR2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 314407	NM_017791.3(FLVCR2):c.-71C>T	FLVCR2-AS1, FLVCR2	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 95818	NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	FLVCR2, FLVCR2-AS1 (V16A)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +3 more	GBenign
Select item 884354	NM_017791.3(FLVCR2):c.69G>A (p.Ala23=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314408	NM_017791.3(FLVCR2):c.78C>A (p.Ser26Arg)	FLVCR2, FLVCR2-AS1 (S26R)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886378	NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg)	FLVCR2, FLVCR2-AS1 (C93R)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314410	NM_017791.3(FLVCR2):c.286A>G (p.Met96Val)	FLVCR2, FLVCR2-AS1 (M96V)	Single nucleotide variant (missense variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1088	NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)	FLVCR2, FLVCR2-AS1	Deletion (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 886379	NM_017791.3(FLVCR2):c.360C>G (p.Ala120=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 95817	NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
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 95819	NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 314413	NM_017791.3(FLVCR2):c.604G>A (p.Ala202Thr)	FLVCR2, FLVCR2-AS1 (A202T)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance