ClinVar for Gene (Select 950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158316	NM_005506.4(SCARB2):c.539A>G (p.Tyr180Cys)	SCARB2 (Y180C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158315	NM_005506.4(SCARB2):c.262C>A (p.Pro88Thr)	SCARB2 (P88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158314	NM_005506.4(SCARB2):c.239C>A (p.Thr80Asn)	SCARB2 (T80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3011921	NM_005506.4(SCARB2):c.1305C>T (p.Ile435=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2957953	NM_005506.4(SCARB2):c.1182C>T (p.Asp394=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2916219	NM_005506.4(SCARB2):c.1187+10G>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2908702	NM_005506.4(SCARB2):c.1275G>A (p.Leu425=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2900574	NM_005506.4(SCARB2):c.585C>A (p.Ile195=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2893212	NM_005506.4(SCARB2):c.1399-16C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2889187	NM_005506.4(SCARB2):c.705-16T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2889111	NM_005506.4(SCARB2):c.1114-19T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2881542	NM_005506.4(SCARB2):c.1242T>C (p.Ser414=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2881026	NM_005506.4(SCARB2):c.1026T>C (p.Phe342=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2870064	NM_005506.4(SCARB2):c.594T>C (p.Tyr198=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2859802	NM_005506.4(SCARB2):c.251A>G (p.Glu84Gly)	SCARB2 (E84G)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2854322	NM_005506.4(SCARB2):c.705-19T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2846431	NM_005506.4(SCARB2):c.1030C>T (p.Gln344Ter)	SCARB2 (Q201* +1 more)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy	GPathogenic
Select item 2835512	NM_005506.4(SCARB2):c.1114-18C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2827713	NM_005506.4(SCARB2):c.276-10T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2827292	NM_005506.4(SCARB2):c.1240-4C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2824151	NM_005506.4(SCARB2):c.1034C>A (p.Ala345Glu)	SCARB2 (A202E +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2814423	NM_005506.4(SCARB2):c.345G>A (p.Lys115=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2811001	NM_005506.4(SCARB2):c.1119T>G (p.Thr373=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2803684	NM_005506.4(SCARB2):c.1399-13T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2781498	NM_005506.4(SCARB2):c.226del (p.Leu76fs)	SCARB2 (L76fs)	Deletion (frameshift variant)	Progressive myoclonic epilepsy	GPathogenic
Select item 2770916	NM_005506.4(SCARB2):c.12C>T (p.Cys4=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2769015	NM_005506.4(SCARB2):c.275+12C>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2763410	NM_005506.4(SCARB2):c.995-16_1062delinsG	SCARB2	Indel (splice acceptor variant)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 2761474	NM_005506.4(SCARB2):c.1188-19T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2755434	NM_005506.4(SCARB2):c.1113+16C>T	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2750931	NM_005506.4(SCARB2):c.1187+13T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2744535	NM_005506.4(SCARB2):c.1240-2A>G	SCARB2	Single nucleotide variant (splice acceptor variant)	Progressive myoclonic epilepsy	GLikely pathogenic
Select item 2737543	NM_005506.4(SCARB2):c.57C>T (p.Thr19=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2736519	NM_005506.4(SCARB2):c.346G>A (p.Ala116Thr)	SCARB2 (A116T)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2730987	NM_005506.4(SCARB2):c.1239+15G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2729174	NM_005506.4(SCARB2):c.1056C>A (p.Ala352=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2723500	NM_005506.4(SCARB2):c.612+8G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2711339	NM_005506.4(SCARB2):c.1161T>C (p.Ile387=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2706601	NM_005506.4(SCARB2):c.249G>A (p.Val83=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2706587	NM_005506.4(SCARB2):c.1233C>G (p.Leu411=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2623431	NM_005506.4(SCARB2):c.1059A>G (p.Ile353Met)	SCARB2 (I210M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569906	NM_005506.4(SCARB2):c.634G>A (p.Asp212Asn)	SCARB2 (D212N)	Single nucleotide variant (missense variant +1 more)	SCARB2-related condition +1 more	GUncertain significance
Select item 2536034	NM_005506.4(SCARB2):c.1406C>T (p.Ala469Val)	SCARB2 (A469V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495277	NM_005506.4(SCARB2):c.1316C>T (p.Pro439Leu)	SCARB2 (P296L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433153	NM_005506.4(SCARB2):c.1114-2A>G	SCARB2	Single nucleotide variant (splice acceptor variant)	Action myoclonus-renal failure syndrome	GLikely pathogenic
Select item 2425361	NC_000004.11:g.(?_77082866)_(77102274_?)dup	SCARB2	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 2425360	NC_000004.11:g.(?_77116840)_(77134696_?)dup	SCARB2	Duplication	Progressive myoclonic epilepsy	GUncertain significance
Select item 2313064	NM_005506.4(SCARB2):c.83T>A (p.Val28Asp)	SCARB2 (V28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227733	NM_005506.4(SCARB2):c.295A>G (p.Asn99Asp)	SCARB2 (N99D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2201647	NM_005506.4(SCARB2):c.1005C>T (p.Ile335=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2196828	NM_005506.4(SCARB2):c.1239+12G>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2187994	NM_005506.4(SCARB2):c.810A>T (p.Pro270=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2178781	NM_005506.4(SCARB2):c.231A>T (p.Arg77Ser)	SCARB2 (R77S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2173951	NM_005506.4(SCARB2):c.1378G>A (p.Gly460Arg)	SCARB2 (G460R +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2172374	NM_005506.4(SCARB2):c.1239+14_1239+17dup	SCARB2	Duplication (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2171804	NM_005506.4(SCARB2):c.802G>A (p.Val268Ile)	SCARB2 (V125I +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2156970	NM_005506.4(SCARB2):c.160G>A (p.Glu54Lys)	SCARB2 (E54K)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2156174	NM_005506.4(SCARB2):c.212A>G (p.Asn71Ser)	SCARB2 (N71S)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2154426	NM_005506.4(SCARB2):c.440C>T (p.Ser147Phe)	SCARB2 (S147F)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2128596	NM_005506.4(SCARB2):c.1240-6C>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2127389	NM_005506.4(SCARB2):c.1187+20A>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2090191	NM_005506.4(SCARB2):c.1369G>A (p.Ala457Thr)	SCARB2 (A457T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2089624	NM_005506.4(SCARB2):c.444G>A (p.Gln148=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2088984	NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)	SCARB2 (Q30*)	Single nucleotide variant (nonsense)	Progressive myoclonic epilepsy	GPathogenic
Select item 2088135	NM_005506.4(SCARB2):c.613-16A>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2080764	NM_005506.4(SCARB2):c.276-7_276-5del	SCARB2	Deletion (intron variant)	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2072788	NM_005506.4(SCARB2):c.858T>C (p.Ser286=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2068790	NM_005506.4(SCARB2):c.1114-15T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2066434	NM_005506.4(SCARB2):c.1319A>G (p.Tyr440Cys)	SCARB2 (Y440C +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2061892	NM_005506.4(SCARB2):c.172C>G (p.Leu58Val)	SCARB2 (L58V)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2044896	NM_005506.4(SCARB2):c.405A>G (p.Thr135=)	SCARB2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy	GLikely benign
Select item 2027527	NM_005506.4(SCARB2):c.424-18T>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2025448	NM_005506.4(SCARB2):c.204T>C (p.Asn68=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2021050	NM_005506.4(SCARB2):c.127T>C (p.Leu43=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 2012446	NM_005506.4(SCARB2):c.889G>C (p.Val297Leu)	SCARB2 (V154L +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 2005737	NM_005506.4(SCARB2):c.1260_1261dup (p.Thr421fs)	SCARB2 (T278fs +1 more)	Microsatellite (frameshift variant)	Progressive myoclonic epilepsy	GPathogenic
Select item 2003957	NM_005506.4(SCARB2):c.613-7T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1995520	NM_005506.4(SCARB2):c.986G>A (p.Cys329Tyr)	SCARB2 (C186Y +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1992631	NM_005506.4(SCARB2):c.232G>A (p.Gly78Arg)	SCARB2 (G78R)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1982988	NM_005506.4(SCARB2):c.1371A>C (p.Ala457=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1981905	NM_005506.4(SCARB2):c.234G>C (p.Gly78=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1974530	NM_005506.4(SCARB2):c.1313T>C (p.Ile438Thr)	SCARB2 (I295T +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1969033	NM_005506.4(SCARB2):c.1399-15T>A	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1963136	NM_005506.4(SCARB2):c.1142A>G (p.Lys381Arg)	SCARB2 (K381R +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1961450	NM_005506.4(SCARB2):c.1249A>T (p.Ile417Phe)	SCARB2 (I274F +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1959404	NM_005506.4(SCARB2):c.705-3T>C	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1942940	NM_005506.4(SCARB2):c.424-19A>G	SCARB2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1929378	NM_005506.4(SCARB2):c.1312A>G (p.Ile438Val)	SCARB2 (I295V +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1922306	NM_005506.4(SCARB2):c.78C>A (p.Ala26=)	SCARB2	Single nucleotide variant (synonymous variant)	Progressive myoclonic epilepsy	GLikely benign
Select item 1907316	NM_005506.4(SCARB2):c.465C>G (p.Ile155Met)	SCARB2 (I155M)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1899380	NM_005506.4(SCARB2):c.365A>T (p.Asp122Val)	SCARB2 (D122V)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1898812	NM_005506.4(SCARB2):c.854A>G (p.Glu285Gly)	SCARB2 (E142G +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1897520	NM_005506.4(SCARB2):c.541A>C (p.Lys181Gln)	SCARB2 (K181Q)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy	GUncertain significance
Select item 1778106	NM_005506.4(SCARB2):c.168C>T (p.Pro56=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769393	NM_005506.4(SCARB2):c.1300A>G (p.Ile434Val)	SCARB2 (I434V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1762023	NM_005506.4(SCARB2):c.810A>G (p.Pro270=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1729970	NM_005506.4(SCARB2):c.1137A>T (p.Ala379=)	SCARB2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1719528	NM_005506.4(SCARB2):c.1066A>C (p.Met356Leu)	SCARB2 (M213L +1 more)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy	GUncertain significance

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