ClinVar for Gene (Select 28982) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381102	NM_014053.4(FLVCR1):c.479T>C (p.Leu160Pro)	FLVCR1 (L160P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3381097	NM_014053.4(FLVCR1):c.154delinsCC (p.Ala52fs)	FLVCR1, LOC129932486 (A52fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 3380586	NM_014053.4(FLVCR1):c.350A>G (p.Tyr117Cys)	FLVCR1 (Y117C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377003	NM_014053.4(FLVCR1):c.441_445del (p.Trp148fs)	FLVCR1 (W148fs)	Deletion (frameshift variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GPathogenic
Select item 3347587	NM_014053.4(FLVCR1):c.93T>C (p.Val31=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	FLVCR1-related disorder	GLikely benign
Select item 3279276	NM_014053.4(FLVCR1):c.526A>G (p.Thr176Ala)	FLVCR1 (T176A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279275	NM_014053.4(FLVCR1):c.168C>A (p.Ser56Arg)	FLVCR1, LOC129932486 (S56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3095762	NM_014053.4(FLVCR1):c.324C>A (p.Phe108Leu)	FLVCR1 (F108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3095761	NM_014053.4(FLVCR1):c.323T>A (p.Phe108Tyr)	FLVCR1 (F108Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027366	NM_014053.4(FLVCR1):c.1319C>G (p.Thr440Ser)	FLVCR1 (T440S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024110	NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)	FLVCR1 (W125*)	Single nucleotide variant (nonsense)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely pathogenic
Select item 3010005	NM_014053.4(FLVCR1):c.1427del (p.Leu476fs)	FLVCR1 (L476fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2998904	NM_014053.4(FLVCR1):c.630C>T (p.Cys210=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998320	NM_014053.4(FLVCR1):c.1584T>C (p.Asp528=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992669	NM_014053.4(FLVCR1):c.1025-20A>G	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984434	NM_014053.4(FLVCR1):c.1525+11G>A	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888250	NM_014053.4(FLVCR1):c.717C>T (p.Ala239=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881893	NM_014053.4(FLVCR1):c.984G>A (p.Leu328=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863571	NM_014053.4(FLVCR1):c.327G>C (p.Val109=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827863	NM_014053.4(FLVCR1):c.1025-11_1025-8del	FLVCR1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2771596	NM_014053.4(FLVCR1):c.834T>C (p.Phe278=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2770146	NM_014053.4(FLVCR1):c.1194C>A (p.Tyr398Ter)	FLVCR1 (Y398*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2767327	NM_014053.4(FLVCR1):c.841A>C (p.Thr281Pro)	FLVCR1 (T281P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766101	NM_014053.4(FLVCR1):c.1593+21del	FLVCR1	Deletion (intron variant)	not provided	GLikely benign
Select item 2714185	NM_014053.4(FLVCR1):c.405C>T (p.Phe135=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2704291	NM_014053.4(FLVCR1):c.1092+12C>T	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685810	GRCh37/hg19 1q32.3(chr1:213038737-213132870)x1	FLVCR1, VASH2	Copy number loss	not provided	GUncertain significance
Select item 2684197	NM_014053.4(FLVCR1):c.88C>T (p.Pro30Ser)	FLVCR1, LOC129932486 (P30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684196	NM_014053.4(FLVCR1):c.585GCA[2] (p.Gln197del)	FLVCR1 (Q197del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2684195	NM_014053.4(FLVCR1):c.555C>T (p.Cys185=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2672383	NM_014053.4(FLVCR1):c.202C>T (p.Gln68Ter)	FLVCR1, LOC129932486 (Q68*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2639886	NM_014053.4(FLVCR1):c.1023T>C (p.Tyr341=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579814	NM_014053.4(FLVCR1):c.529_530delinsAA (p.Ala177Asn)	FLVCR1 (A177N)	Indel (missense variant)	not provided	GUncertain significance
Select item 2570751	NM_014053.4(FLVCR1):c.256G>A (p.Ala86Thr)	FLVCR1, LOC129932486 (A86T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2552887	NM_014053.4(FLVCR1):c.77C>T (p.Pro26Leu)	FLVCR1, LOC129932486 (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528877	NM_014053.4(FLVCR1):c.179C>T (p.Ala60Val)	FLVCR1, LOC129932486 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528835	NM_014053.4(FLVCR1):c.178G>A (p.Ala60Thr)	FLVCR1, LOC129932486 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425888	NC_000001.10:g.(?_213056693)_(213058758_?)dup	FLVCR1	Duplication	not provided	GLikely pathogenic
Select item 2425887	NC_000001.10:g.(?_213031795)_(213037231_?)del	FLVCR1	Deletion	not provided	GPathogenic
Select item 2425886	NC_000001.10:g.(?_213046000)_(213046180_?)del	FLVCR1	Deletion	not provided	GPathogenic
Select item 2336471	NM_014053.4(FLVCR1):c.665C>G (p.Ser222Cys)	FLVCR1 (S222C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308270	NM_014053.4(FLVCR1):c.1028T>C (p.Ile343Thr)	FLVCR1 (I343T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288518	NM_014053.4(FLVCR1):c.994A>C (p.Ile332Leu)	FLVCR1 (I332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288484	NM_014053.4(FLVCR1):c.1445G>A (p.Gly482Glu)	FLVCR1 (G482E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227933	NM_014053.4(FLVCR1):c.1536G>C (p.Lys512Asn)	FLVCR1 (K512N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223996	NM_014053.4(FLVCR1):c.938A>G (p.Asp313Gly)	FLVCR1 (D313G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183087	NM_014053.4(FLVCR1):c.448T>C (p.Ser150Pro)	FLVCR1 (S150P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151912	NM_014053.4(FLVCR1):c.1058C>T (p.Thr353Met)	FLVCR1 (T353M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2149516	NM_014053.4(FLVCR1):c.319C>A (p.Arg107Ser)	FLVCR1 (R107S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134828	NM_014053.4(FLVCR1):c.1543C>G (p.Leu515Val)	FLVCR1 (L515V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131146	NM_014053.4(FLVCR1):c.1191A>T (p.Thr397=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129730	NM_014053.4(FLVCR1):c.84C>A (p.Gly28=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124796	NM_014053.4(FLVCR1):c.778G>A (p.Val260Ile)	FLVCR1 (V260I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124365	NM_014053.4(FLVCR1):c.781C>T (p.Pro261Ser)	FLVCR1 (P261S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119536	NM_014053.4(FLVCR1):c.157C>T (p.Pro53Ser)	FLVCR1, LOC129932486 (P53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118915	NM_014053.4(FLVCR1):c.1215T>G (p.Val405=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117100	NM_014053.4(FLVCR1):c.83G>A (p.Gly28Asp)	FLVCR1, LOC129932486 (G28D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115773	NM_014053.4(FLVCR1):c.1129C>G (p.Leu377Val)	FLVCR1 (L377V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115245	NM_014053.4(FLVCR1):c.821T>C (p.Ile274Thr)	FLVCR1 (I274T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114696	NM_014053.4(FLVCR1):c.916C>G (p.Gln306Glu)	FLVCR1 (Q306E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112504	NM_014053.4(FLVCR1):c.451A>G (p.Met151Val)	FLVCR1 (M151V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111678	NM_014053.4(FLVCR1):c.874A>G (p.Thr292Ala)	FLVCR1 (T292A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111561	NM_014053.4(FLVCR1):c.269C>A (p.Thr90Asn)	FLVCR1, LOC129932486 (T90N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2108613	NM_014053.4(FLVCR1):c.1594-16C>T	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2105447	NM_014053.4(FLVCR1):c.1201A>G (p.Thr401Ala)	FLVCR1 (T401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105185	NM_014053.4(FLVCR1):c.739-13A>G	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100872	NM_014053.4(FLVCR1):c.406G>A (p.Glu136Lys)	FLVCR1 (E136K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2096076	NM_014053.4(FLVCR1):c.1653A>G (p.Ser551=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094151	NM_014053.4(FLVCR1):c.750A>T (p.Ala250=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092295	NM_014053.4(FLVCR1):c.973A>G (p.Ile325Val)	FLVCR1 (I325V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087286	NM_014053.4(FLVCR1):c.1351G>C (p.Val451Leu)	FLVCR1 (V451L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087133	NM_014053.4(FLVCR1):c.789A>G (p.Thr263=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086966	NM_014053.4(FLVCR1):c.466G>C (p.Ala156Pro)	FLVCR1 (A156P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080873	NM_014053.4(FLVCR1):c.1506T>C (p.Phe502=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2070932	NM_014053.4(FLVCR1):c.1432A>C (p.Thr478Pro)	FLVCR1 (T478P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069864	NM_014053.4(FLVCR1):c.594T>C (p.His198=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067641	NM_014053.4(FLVCR1):c.360C>T (p.Val120=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056338	NM_014053.4(FLVCR1):c.114G>A (p.Leu38=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054219	NM_014053.4(FLVCR1):c.561T>G (p.Gly187=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049450	NM_014053.4(FLVCR1):c.1196+20T>C	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047050	NM_014053.4(FLVCR1):c.72G>A (p.Pro24=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029500	NM_014053.4(FLVCR1):c.675C>G (p.Ala225=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023108	NM_014053.4(FLVCR1):c.1200G>A (p.Gln400=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2018802	NM_014053.4(FLVCR1):c.18T>C (p.Asp6=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2014843	NM_014053.4(FLVCR1):c.1555A>T (p.Asn519Tyr)	FLVCR1 (N519Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013347	NM_014053.4(FLVCR1):c.157C>A (p.Pro53Thr)	FLVCR1, LOC129932486 (P53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007153	NM_014053.4(FLVCR1):c.238del (p.Arg80fs)	FLVCR1, LOC129932486 (R80fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1988825	NM_014053.4(FLVCR1):c.447G>A (p.Leu149=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977304	NM_014053.4(FLVCR1):c.1593+20T>C	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975380	NM_014053.4(FLVCR1):c.668G>T (p.Arg223Leu)	FLVCR1 (R223L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971996	NM_014053.4(FLVCR1):c.884-8A>G	FLVCR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970318	NM_014053.4(FLVCR1):c.884C>T (p.Ala295Val)	FLVCR1 (A295V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968248	NM_014053.4(FLVCR1):c.979A>G (p.Asn327Asp)	FLVCR1 (N327D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962180	NM_014053.4(FLVCR1):c.154del (p.Ala52fs)	FLVCR1, LOC129932486 (A52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1961828	NM_014053.4(FLVCR1):c.292C>T (p.Leu98=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961607	NM_014053.4(FLVCR1):c.171C>T (p.Leu57=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959769	NM_014053.4(FLVCR1):c.78G>T (p.Pro26=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956023	NM_014053.4(FLVCR1):c.1196+11_1196+15del	FLVCR1	Deletion (intron variant)	not provided	GLikely benign
Select item 1955330	NM_014053.4(FLVCR1):c.354G>T (p.Ser118=)	FLVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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