ClinVar for Gene (Select 10599) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320347	NM_006446.5(SLCO1B1):c.841C>G (p.Gln281Glu)	SLCO1B1 (Q281E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3320346	NM_006446.5(SLCO1B1):c.1588T>C (p.Cys530Arg)	SLCO1B1 (C530R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165791	NM_006446.5(SLCO1B1):c.1684A>G (p.Ile562Val)	SLCO1B1 (I562V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165790	NM_006446.5(SLCO1B1):c.1453T>C (p.Cys485Arg)	SLCO1B1 (C485R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165789	NM_006446.5(SLCO1B1):c.1435A>G (p.Ile479Val)	SLCO1B1 (I479V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165788	NM_006446.5(SLCO1B1):c.1433G>A (p.Gly478Glu)	SLCO1B1 (G478E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165787	NM_006446.5(SLCO1B1):c.1289G>T (p.Cys430Phe)	SLCO1B1 (C430F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165786	NM_006446.5(SLCO1B1):c.127C>A (p.Leu43Ile)	SLCO1B1 (L43I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3165784	NM_006446.5(SLCO1B1):c.1043A>G (p.Gln348Arg)	SLCO1B1 (Q348R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3057802	NM_006446.5(SLCO1B1):c.1308C>T (p.Ala436=)	SLCO1B1	Single nucleotide variant (synonymous variant)	SLCO1B1-related disorder	GLikely benign
Select item 3042702	NM_006446.5(SLCO1B1):c.1866-10A>G	SLCO1B1	Single nucleotide variant (intron variant)	SLCO1B1-related disorder	GLikely benign
Select item 2920953	NM_006446.5(SLCO1B1):c.1905_1909del (p.Ser636fs)	SLCO1B1 (S636fs)	Deletion (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 2920923	NM_006446.5(SLCO1B1):c.-3A>G	SLCO1B1	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GLikely benign
Select item 2920753	NM_006446.5(SLCO1B1):c.152C>T (p.Ser51Phe)	SLCO1B1 (S51F)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2690040	NM_006446.5(SLCO1B1):c.629-1G>A	SLCO1B1	Single nucleotide variant (splice acceptor variant)	Rotor syndrome	GUncertain significance
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642775	NM_006446.5(SLCO1B1):c.657T>A (p.Gly219=)	SLCO1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611779	NM_006446.5(SLCO1B1):c.382A>C (p.Asn128His)	SLCO1B1 (N128H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2604371	NM_006446.5(SLCO1B1):c.65G>C (p.Arg22Thr)	SLCO1B1 (R22T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2572603	NM_006446.5(SLCO1B1):c.1865+1G>A	SLCO1B1	Single nucleotide variant (splice donor variant)	See cases	GLikely risk allele
Select item 2543293	NM_006446.5(SLCO1B1):c.493G>A (p.Glu165Lys)	SLCO1B1 (E165K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2532148	NM_006446.5(SLCO1B1):c.31G>T (p.Ala11Ser)	SLCO1B1 (A11S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2531495	NM_006446.5(SLCO1B1):c.348C>A (p.Phe116Leu)	SLCO1B1 (F116L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2525524	NM_006446.5(SLCO1B1):c.1979A>G (p.Glu660Gly)	SLCO1B1 (E660G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2506538	GRCh37/hg19 12p12.2-12.1(chr12:21007963-21392123)	SLCO1B1, SLCO1B3 +1 more	Copy number loss	Rotor syndrome	GLikely pathogenic
Select item 2492460	NM_006446.5(SLCO1B1):c.32C>T (p.Ala11Val)	SLCO1B1 (A11V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2483004	NM_006446.5(SLCO1B1):c.670T>C (p.Phe224Leu)	SLCO1B1 (F224L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2436094	NM_006446.5(SLCO1B1):c.1462G>A (p.Gly488Ser)	SLCO1B1 (G488S)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436093	NM_006446.5(SLCO1B1):c.284del (p.Lys95fs)	SLCO1B1 (K95fs)	Deletion (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 2436092	NM_006446.5(SLCO1B1):c.1805G>T (p.Trp602Leu)	SLCO1B1 (W602L)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436091	NM_006446.5(SLCO1B1):c.373A>G (p.Lys125Glu)	SLCO1B1 (K125E)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436090	NM_006446.5(SLCO1B1):c.808A>C (p.Ile270Leu)	SLCO1B1 (I270L)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436089	NM_006446.5(SLCO1B1):c.1213G>A (p.Val405Ile)	SLCO1B1 (V405I)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436088	NM_006446.5(SLCO1B1):c.1848T>G (p.Tyr616Ter)	SLCO1B1 (Y616*)	Single nucleotide variant (nonsense)	Rotor syndrome	GUncertain significance
Select item 2436087	NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)	SLCO1B1 (T225I)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436086	NM_006446.5(SLCO1B1):c.601A>G (p.Lys201Glu)	SLCO1B1 (K201E)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436084	NM_006446.5(SLCO1B1):c.858A>G (p.Pro286=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GUncertain significance
Select item 2436083	NM_006446.5(SLCO1B1):c.904A>T (p.Asn302Tyr)	SLCO1B1 (N302Y)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance
Select item 2410222	NM_006446.5(SLCO1B1):c.1698A>C (p.Glu566Asp)	SLCO1B1 (E566D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2366275	NM_006446.5(SLCO1B1):c.1474T>A (p.Ser492Thr)	SLCO1B1 (S492T)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance
Select item 2337530	NM_006446.5(SLCO1B1):c.584A>G (p.Tyr195Cys)	SLCO1B1 (Y195C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2327059	NM_006446.5(SLCO1B1):c.1970A>G (p.Asn657Ser)	SLCO1B1 (N657S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2316007	NM_006446.5(SLCO1B1):c.1998T>A (p.Asp666Glu)	SLCO1B1 (D666E)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance
Select item 2316006	NM_006446.5(SLCO1B1):c.1280T>G (p.Phe427Cys)	SLCO1B1 (F427C)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance
Select item 2285342	NM_006446.5(SLCO1B1):c.653T>C (p.Ile218Thr)	SLCO1B1 (I218T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2282421	NM_006446.5(SLCO1B1):c.1108C>T (p.Pro370Ser)	SLCO1B1 (P370S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1744463	NM_006446.5(SLCO1B1):c.496T>C (p.Ser166Pro)	SLCO1B1 (S166P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	PTPRO, PYROXD1 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527691	GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)	AEBP2, GOLT1B +12 more	Copy number gain	not specified	GUncertain significance
Select item 1527690	GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899)	AEBP2, PDE3A +5 more	Copy number loss	not specified	GUncertain significance
Select item 1527688	GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895)	ABCC9, AEBP2 +35 more	Copy number gain	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1472348	NC_000012.11:g.(?_21294509)_(21652504_?)dup	IAPP, PYROXD1 +3 more	Duplication	not provided	GUncertain significance
Select item 1331069	NM_006446.5(SLCO1B1):c.1332-19G>C	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GBenign
Select item 1331055	NM_006446.5(SLCO1B1):c.1812C>T (p.Thr604=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GLikely benign
Select item 1330943	NM_006446.5(SLCO1B1):c.225T>G (p.Ile75Met)	SLCO1B1 (I75M)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1330676	NM_006446.5(SLCO1B1):c.79T>C (p.Leu27=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GLikely benign
Select item 1330576	NM_006446.5(SLCO1B1):c.263G>A (p.Gly88Glu)	SLCO1B1 (G88E)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1330462	NM_006446.5(SLCO1B1):c.1564G>C (p.Gly522Arg)	SLCO1B1 (G522R)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1330381	NM_006446.5(SLCO1B1):c.482-11T>C	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GBenign
Select item 1295279	NM_006446.5(SLCO1B1):c.1748-97G>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295262	NM_006446.5(SLCO1B1):c.1135+305C>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295257	NM_006446.5(SLCO1B1):c.481+191G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291880	NM_006446.5(SLCO1B1):c.1498-170C>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291737	NM_006446.5(SLCO1B1):c.226+224A>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289665	NM_006446.5(SLCO1B1):c.1683-171G>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284586	NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GLikely benign
Select item 1282967	NM_006446.5(SLCO1B1):c.84+193G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282401	NM_006446.5(SLCO1B1):c.1135+42A>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277787	NM_006446.5(SLCO1B1):c.1135+266A>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256789	NM_006446.5(SLCO1B1):c.85-237G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252928	NM_006446.5(SLCO1B1):c.727+33C>T	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome +1 more	GBenign
Select item 1250889	NM_006446.5(SLCO1B1):c.1866-95T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247535	NM_006446.5(SLCO1B1):c.-61-155T>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247145	NM_006446.5(SLCO1B1):c.359+97C>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246860	NM_006446.5(SLCO1B1):c.481+189G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246676	NM_006446.5(SLCO1B1):c.482-331G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242734	NM_006446.5(SLCO1B1):c.1748-159C>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242279	NM_006446.5(SLCO1B1):c.1498-68G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241265	NM_006446.5(SLCO1B1):c.481+160C>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240607	NM_006446.5(SLCO1B1):c.481+165A>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239245	NM_006446.5(SLCO1B1):c.360-286T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236379	NM_006446.5(SLCO1B1):c.1135+66G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235207	NM_006446.5(SLCO1B1):c.1683-173T>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234509	NM_006446.5(SLCO1B1):c.1498-89T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229323	NM_006446.5(SLCO1B1):c.360-320C>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225618	NM_006446.5(SLCO1B1):c.-61-217_-61-214del	SLCO1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1224048	NM_006446.5(SLCO1B1):c.226+89T>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181238	NM_006446.5(SLCO1B1):c.482-112_482-107del	SLCO1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1034278	NM_006446.5(SLCO1B1):c.1592C>G (p.Thr531Arg)	SLCO1B1 (T531R)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 994334	NM_006446.5(SLCO1B1):c.1415C>T (p.Pro472Leu)	SLCO1B1 (P472L)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 994309	NM_006446.5(SLCO1B1):c.1739G>A (p.Arg580Gln)	SLCO1B1 (R580Q)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 994248	NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs)	SLCO1B1 (I642fs)	Microsatellite (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 993892	NM_006446.5(SLCO1B1):c.1015G>C (p.Val339Leu)	SLCO1B1 (V339L)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 993876	NM_006446.5(SLCO1B1):c.485G>A (p.Cys162Tyr)	SLCO1B1 (C162Y)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance

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