FLVCR2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +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	ABCD4, ACYP1 +1421 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	NR_110552.1(FLVCR2-AS1):n.1182C>G	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)	Fowler syndrome +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 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	GPathogenic
Select item 2876722	NM_017791.3(FLVCR2):c.51G>A (p.Pro17=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (synonymous 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 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 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-AS1, FLVCR2 (R84H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 (missense 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 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 (synonymous 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 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 (synonymous 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, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +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
Select item 2861290	NM_017791.3(FLVCR2):c.618C>T (p.Phe206=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 95820	NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)	FLVCR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 887371	NM_017791.3(FLVCR2):c.669+8G>C	FLVCR2	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 2007984	NM_017791.3(FLVCR2):c.669+15T>C	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203360	NM_017791.3(FLVCR2):c.669+20A>G	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1253170	NM_017791.3(FLVCR2):c.669+160G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182522	NM_017791.3(FLVCR2):c.669+246C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180344	NM_017791.3(FLVCR2):c.670-16728C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239452	NM_017791.3(FLVCR2):c.670-16394T>C	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252446	NM_017791.3(FLVCR2):c.670-16207G>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218152	NM_017791.3(FLVCR2):c.670-252C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263998	NM_017791.3(FLVCR2):c.670-191G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748748	NM_017791.3(FLVCR2):c.670C>G (p.Leu224Val)	FLVCR2 (L224V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1926674	NM_017791.3(FLVCR2):c.716A>G (p.Asn239Ser)	FLVCR2 (N239S +1 more)	Single nucleotide variant (missense variant)	not provided	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 887372	NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp)	FLVCR2 (R243W +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GLikely benign
Select item 727003	NM_017791.3(FLVCR2):c.732C>T (p.Asp244=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985141	NM_017791.3(FLVCR2):c.735G>A (p.Glu245=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1937139	NM_017791.3(FLVCR2):c.787C>T (p.Leu263Phe)	FLVCR2 (L263F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1216191	NM_017791.3(FLVCR2):c.811+274G>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286711	NM_017791.3(FLVCR2):c.812-264G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774491	NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser)	FLVCR2 (P279S +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GBenign/Likely benign
Select item 1091	NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)	FLVCR2 (P280R +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 762245	NM_017791.3(FLVCR2):c.840C>T (p.Pro280=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077059	NM_017791.3(FLVCR2):c.866C>G (p.Ala289Gly)	FLVCR2 (A84G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418361	NM_017791.3(FLVCR2):c.886T>G (p.Ser296Ala)	FLVCR2 (S296A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920588	NM_017791.3(FLVCR2):c.890A>G (p.Tyr297Cys)	FLVCR2 (Y297C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787949	NM_017791.3(FLVCR2):c.903C>T (p.Ile301=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2416040	NM_017791.3(FLVCR2):c.904G>A (p.Ala302Thr)	FLVCR2 (A302T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314414	NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp)	FLVCR2 (A302D +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign/Likely benign
Select item 2981976	NM_017791.3(FLVCR2):c.906C>T (p.Ala302=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808286	NM_017791.3(FLVCR2):c.906C>G (p.Ala302=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441526	NM_017791.3(FLVCR2):c.908G>A (p.Arg303Gln)	FLVCR2 (R303Q +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 2961248	NM_017791.3(FLVCR2):c.909G>C (p.Arg303=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965993	NM_017791.3(FLVCR2):c.931G>A (p.Val311Met)	FLVCR2 (V106M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 314415	NM_017791.3(FLVCR2):c.947C>G (p.Thr316Ser)	FLVCR2 (T316S +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 3038355	NM_017791.3(FLVCR2):c.951T>C (p.Tyr317=)	FLVCR2	Single nucleotide variant (synonymous variant)	FLVCR2-related disorder	GLikely benign
Select item 1973988	NM_017791.3(FLVCR2):c.952+9_952+10delinsCA	FLVCR2	Indel (intron variant)	not provided	GUncertain significance

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