FLVCR2-AS1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 148020	GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1	ACYP1, BATF +71 more	Copy number loss	See cases	GUncertain significance
Select item 58332	GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3	BATF, ERG28 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57809	GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1	ADCK1, AHSA1 +155 more	Copy number loss	See cases	GPathogenic
Select item 1211844	NC_000014.9:g.75578407G>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
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)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign/Likely benign
Select item 314406	NM_017791.3(FLVCR2):c.-96T>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 314407	NM_017791.3(FLVCR2):c.-71C>T	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
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 95818	NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	FLVCR2, FLVCR2-AS1 (V16A)	Single nucleotide variant (non-coding transcript variant +1 more)	Fowler syndrome +3 more	GBenign
Select item 3011058	NM_017791.3(FLVCR2):c.52dup (p.Glu18fs)	FLVCR2, FLVCR2-AS1 (E18fs)	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2876722	NM_017791.3(FLVCR2):c.51G>A (p.Pro17=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 770428	NM_017791.3(FLVCR2):c.84GGTCCATCCCAGCGTCTC[1] (p.29VHPSVS[1])	FLVCR2, FLVCR2-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2005527	NM_017791.3(FLVCR2):c.79G>A (p.Val27Ile)	FLVCR2, FLVCR2-AS1 (V27I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 742135	NM_017791.3(FLVCR2):c.135C>T (p.Val45=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3516124	NM_017791.3(FLVCR2):c.152G>T (p.Ser51Ile)	FLVCR2, FLVCR2-AS1 (S51I)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1978560	NM_017791.3(FLVCR2):c.156G>T (p.Ser52=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2046871	NM_017791.3(FLVCR2):c.180_197del (p.Gln60_Ala65del)	FLVCR2, FLVCR2-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3341082	NM_017791.3(FLVCR2):c.191del (p.Leu64fs)	FLVCR2, FLVCR2-AS1 (L64fs)	Deletion (non-coding transcript variant +1 more)	Fowler syndrome	GLikely pathogenic
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 1900481	NM_017791.3(FLVCR2):c.244A>T (p.Arg82Trp)	FLVCR2, FLVCR2-AS1 (R82W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2137607	NM_017791.3(FLVCR2):c.251G>A (p.Arg84His)	FLVCR2, FLVCR2-AS1 (R84H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3516121	NM_017791.3(FLVCR2):c.259G>A (p.Val87Met)	FLVCR2, FLVCR2-AS1 (V87M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2126542	NM_017791.3(FLVCR2):c.267G>A (p.Leu89=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GConflicting classifications of pathogenicity
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 3516127	NM_017791.3(FLVCR2):c.299T>G (p.Phe100Cys)	FLVCR2, FLVCR2-AS1 (F100C)	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 2177489	NM_017791.3(FLVCR2):c.309C>T (p.Ile103=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1958503	NM_017791.3(FLVCR2):c.322A>G (p.Ile108Val)	FLVCR2, FLVCR2-AS1 (I108V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2067017	NM_017791.3(FLVCR2):c.364G>A (p.Ala122Thr)	FLVCR2, FLVCR2-AS1 (A122T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 95817	NM_017791.3(FLVCR2):c.376C>T (p.Leu126=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign
Select item 667372	NM_017791.3(FLVCR2):c.391dup (p.Met131fs)	FLVCR2, FLVCR2-AS1 (M131fs)	Duplication (non-coding transcript variant +1 more)	Fowler syndrome	GLikely pathogenic
Select item 30856	NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)	FLVCR2, FLVCR2-AS1 (Y134*)	Single nucleotide variant (nonsense +1 more)	Fowler syndrome	GPathogenic
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 1090	NM_017791.3(FLVCR2):c.473C>A (p.Ser158Ter)	FLVCR2, FLVCR2-AS1 (S158*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fowler syndrome	GPathogenic
Select item 3516119	NM_017791.3(FLVCR2):c.482A>G (p.Asn161Ser)	FLVCR2, FLVCR2-AS1 (N161S)	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 1909150	NM_017791.3(FLVCR2):c.519G>A (p.Lys173=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1951604	NM_017791.3(FLVCR2):c.520C>T (p.Pro174Ser)	FLVCR2, FLVCR2-AS1 (P174S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2726128	NM_017791.3(FLVCR2):c.543G>C (p.Val181=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 95819	NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	FLVCR2-AS1, FLVCR2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign
Select item 2104436	NM_017791.3(FLVCR2):c.555C>T (p.Leu185=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1305414	NM_017791.3(FLVCR2):c.580A>G (p.Ile194Val)	FLVCR2, FLVCR2-AS1 (I194V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 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
Select item 2960704	NM_017791.3(FLVCR2):c.609C>T (p.Ser203=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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

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Items: 64