ClinVar for Gene (Select 55640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372805	NM_017791.3(FLVCR2):c.728G>C (p.Arg243Pro)	FLVCR2 (R243P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363141	NM_017791.3(FLVCR2):c.1101G>A (p.Trp367Ter)	FLVCR2 (W162* +1 more)	Single nucleotide variant (nonsense)	Fowler syndrome	GPathogenic
Select item 3341083	NM_017791.3(FLVCR2):c.1021-7T>G	FLVCR2	Single nucleotide variant (intron variant)	Fowler syndrome	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 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 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 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 3279277	NM_017791.3(FLVCR2):c.662G>T (p.Gly221Val)	FLVCR2 (G221V)	Single nucleotide variant (missense variant)	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 3040719	NM_017791.3(FLVCR2):c.1341+7C>T	FLVCR2	Single nucleotide variant (intron variant)	FLVCR2-related disorder	GLikely benign
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 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 2991798	NM_017791.3(FLVCR2):c.1124+1G>T	FLVCR2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2981976	NM_017791.3(FLVCR2):c.906C>T (p.Ala302=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961248	NM_017791.3(FLVCR2):c.909G>C (p.Arg303=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2909397	NM_017791.3(FLVCR2):c.1161G>A (p.Val387=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885185	NM_017791.3(FLVCR2):c.1389C>T (p.Asn463=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885184	NM_017791.3(FLVCR2):c.1386_1387del (p.Asp462fs)	FLVCR2 (D257fs +1 more)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 2883926	NM_017791.3(FLVCR2):c.1053G>A (p.Leu351=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2861290	NM_017791.3(FLVCR2):c.618C>T (p.Phe206=)	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 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 2718415	NM_017791.3(FLVCR2):c.1021-5C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685494	GRCh37/hg19 14q24.3(chr14:74883763-77219310)x1	NPC2, PGF +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
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 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 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 2504242	NM_017791.3(FLVCR2):c.1305A>C (p.Glu435Asp)	FLVCR2 (E230D +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 2426058	NC_000014.8:g.(?_76088402)_(76174070_?)dup	ERG28, FLVCR2 +1 more	Duplication	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 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 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 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 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 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 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 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 2227177	NM_017791.3(FLVCR2):c.721_731del (p.Glu241fs)	FLVCR2 (E241fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
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 2217984	NM_017791.3(FLVCR2):c.1475G>A (p.Arg492Gln)	FLVCR2 (R287Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197369	NM_017791.3(FLVCR2):c.1330A>T (p.Ile444Leu)	FLVCR2 (I239L +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2180914	NM_017791.3(FLVCR2):c.1327A>C (p.Asn443His)	FLVCR2 (N443H +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 2105479	NM_017791.3(FLVCR2):c.1467A>T (p.Ala489=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2084065	NM_017791.3(FLVCR2):c.1276G>T (p.Ala426Ser)	FLVCR2 (A426S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 2034088	NM_017791.3(FLVCR2):c.1235+15T>G	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2021886	NM_017791.3(FLVCR2):c.1351A>C (p.Ile451Leu)	FLVCR2 (I246L +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 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 1985141	NM_017791.3(FLVCR2):c.735G>A (p.Glu245=)	FLVCR2	Single nucleotide variant (synonymous variant)	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 1973988	NM_017791.3(FLVCR2):c.952+9_952+10delinsCA	FLVCR2	Indel (intron variant)	not provided	GUncertain significance
Select item 1970645	NM_017791.3(FLVCR2):c.1531G>T (p.Glu511Ter)	FLVCR2 (E306* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 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 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 1928313	NM_017791.3(FLVCR2):c.1368C>T (p.Ser456=)	FLVCR2	Single nucleotide variant (synonymous 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 1921384	NM_017791.3(FLVCR2):c.1009T>A (p.Trp337Arg)	FLVCR2 (W132R +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 1913420	NM_017791.3(FLVCR2):c.1342-19C>G	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1907490	NM_017791.3(FLVCR2):c.1454-11A>G	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1706441	NM_017791.3(FLVCR2):c.1276G>A (p.Ala426Thr)	FLVCR2 (A221T +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 1411898	NC_000014.8:g.(?_76090935)_(76187066_?)dup	ERG28, FLVCR2 +1 more	Duplication	not provided	GUncertain significance
Select item 1312711	NM_017791.3(FLVCR2):c.1021-131C>T	FLVCR2	Single nucleotide variant (intron variant)	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 1300800	NM_017791.3(FLVCR2):c.1125-185C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289455	NM_017791.3(FLVCR2):c.1341+52G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286711	NM_017791.3(FLVCR2):c.812-264G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282213	NM_017791.3(FLVCR2):c.1509+181C>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274853	NM_017791.3(FLVCR2):c.952+102T>G	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267477	NM_017791.3(FLVCR2):c.1509+182G>T	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263998	NM_017791.3(FLVCR2):c.670-191G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253170	NM_017791.3(FLVCR2):c.669+160G>A	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 1252031	NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)	FLVCR2 (G235S +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 1245345	NM_017791.3(FLVCR2):c.1124+30T>C	FLVCR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239629	NM_017791.3(FLVCR2):c.1021-269A>C	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

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