10599[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	LOC130007455, LOC130007456 +1260 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	LOC129390390, LOC129390391 +1260 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	A2M, A2M-AS1 +1260 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC126861452, LOC126861453 +1011 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007486, LOC130007487 +1259 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LDHB, LINC02347 +4841 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	C1R, C1RL +1259 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	LOC130007540, LOC130007541 +1244 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +102 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	LOC129390410, LOC129390411 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +181 more	Copy number loss	See cases	GPathogenic
Select item 59435	GRCh38/hg38 12p12.2-12.1(chr12:20855565-21224388)x1	LOC126861478, SLCO1B1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 151289	GRCh38/hg38 12p12.2-12.1(chr12:20864642-21203648)x1	LOC126861478, SLCO1B1 +3 more	Copy number loss	See cases	GBenign/Likely benign
Select item 150257	GRCh38/hg38 12p12.2-12.1(chr12:20864739-21203634)x1	LOC126861478, SLCO1B1 +3 more	Copy number loss	See cases	GLikely benign
Select item 307930	NM_006446.5(SLCO1B1):c.-104A>G	SLCO1B1	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GUncertain significance
Select item 881964	NM_006446.5(SLCO1B1):c.-62+10A>G	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GUncertain significance
Select item 157243	NM_006446.5(SLCO1B1):c.-61-1113_84+4111dup	SLCO1B1	Duplication (splice acceptor variant +2 more)	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 1225618	NM_006446.5(SLCO1B1):c.-61-217_-61-214del	SLCO1B1	Microsatellite (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 2920923	NM_006446.5(SLCO1B1):c.-3A>G	SLCO1B1	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GLikely benign
Select item 881965	NM_006446.5(SLCO1B1):c.-3A>C	SLCO1B1	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GUncertain significance
Select item 3445335	NM_006446.5(SLCO1B1):c.7C>A (p.Gln3Lys)	SLCO1B1 (Q3K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3798461	NM_006446.5(SLCO1B1):c.11A>G (p.Asn4Ser)	SLCO1B1 (N4S)	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 2492460	NM_006446.5(SLCO1B1):c.32C>T (p.Ala11Val)	SLCO1B1 (A11V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3798462	NM_006446.5(SLCO1B1):c.49G>A (p.Glu17Lys)	SLCO1B1 (E17K)	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 307931	NM_006446.5(SLCO1B1):c.66A>T (p.Arg22Ser)	SLCO1B1 (R22S)	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 632187	NM_006446.5(SLCO1B1):c.84+2T>G	SLCO1B1	Single nucleotide variant (splice donor variant)	Rotor syndrome	GUncertain significance
Select item 1282967	NM_006446.5(SLCO1B1):c.84+193G>A	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 881966	NM_006446.5(SLCO1B1):c.124A>C (p.Thr42Pro)	SLCO1B1 (T42P)	Single nucleotide variant (missense variant)	Rotor syndrome	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 2920753	NM_006446.5(SLCO1B1):c.152C>T (p.Ser51Phe)	SLCO1B1 (S51F)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 881967	NM_006446.5(SLCO1B1):c.169C>T (p.Arg57Trp)	SLCO1B1 (R57W)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 881968	NM_006446.5(SLCO1B1):c.170G>A (p.Arg57Gln)	SLCO1B1 (R57Q)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307932	NM_006446.5(SLCO1B1):c.184T>C (p.Ser62Pro)	SLCO1B1 (S62P)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1284586	NM_006446.5(SLCO1B1):c.210C>T (p.Asp70=)	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 3780639	NM_006446.5(SLCO1B1):c.226+1G>A	SLCO1B1	Single nucleotide variant (splice donor variant)	Rotor syndrome	GLikely pathogenic
Select item 1224048	NM_006446.5(SLCO1B1):c.226+89T>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 1330576	NM_006446.5(SLCO1B1):c.263G>A (p.Gly88Glu)	SLCO1B1 (G88E)	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 883135	NM_006446.5(SLCO1B1):c.311T>A (p.Met104Lys)	SLCO1B1 (M104K)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307933	NM_006446.5(SLCO1B1):c.314G>T (p.Gly105Val)	SLCO1B1 (G105V)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 883136	NM_006446.5(SLCO1B1):c.317T>C (p.Ile106Thr)	SLCO1B1 (I106T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 3391201	NM_006446.5(SLCO1B1):c.335C>T (p.Ala112Val)	SLCO1B1 (A112V)	Single nucleotide variant (missense variant)	Rotor syndrome	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 440285	NM_006446.4(SLCO1B1):c.359+10[16]	SLCO1B1	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 307934	NM_006446.5(SLCO1B1):c.359+23dup	SLCO1B1	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1247145	NM_006446.5(SLCO1B1):c.359+97C>A	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 1239245	NM_006446.5(SLCO1B1):c.360-286T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307935	NM_006446.5(SLCO1B1):c.360-15G>A	SLCO1B1	Single nucleotide variant (intron 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 2611779	NM_006446.5(SLCO1B1):c.382A>C (p.Asn128His)	SLCO1B1 (N128H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 259983	NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)	SLCO1B1 (N130D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 307936	NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 883909	NM_006446.5(SLCO1B1):c.452A>G (p.Asn151Ser)	SLCO1B1 (N151S)	Single nucleotide variant (missense variant)	Rotor syndrome	GBenign
Select item 883910	NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr)	SLCO1B1 (R152T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307937	NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr)	SLCO1B1 (P155T)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GBenign
Select item 307938	NM_006446.5(SLCO1B1):c.481+1G>T	SLCO1B1	Single nucleotide variant (splice donor variant)	Rotor syndrome	GConflicting classifications of pathogenicity
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 1246860	NM_006446.5(SLCO1B1):c.481+189G>A	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 1246676	NM_006446.5(SLCO1B1):c.482-331G>A	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 1330381	NM_006446.5(SLCO1B1):c.482-11T>C	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GBenign
Select item 993876	NM_006446.5(SLCO1B1):c.485G>A (p.Cys162Tyr)	SLCO1B1 (C162Y)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
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 1744463	NM_006446.5(SLCO1B1):c.496T>C (p.Ser166Pro)	SLCO1B1 (S166P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 37346	NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)	SLCO1B1 (V174A)	Single nucleotide variant (missense variant)	pravastatin response - Toxicity +14 more	Gdrug response
Select item 259984	NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=)	SLCO1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 259985	NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
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 2690040	NM_006446.5(SLCO1B1):c.629-1G>A	SLCO1B1	Single nucleotide variant (splice acceptor variant)	Rotor syndrome	GUncertain significance
Select item 307939	NM_006446.5(SLCO1B1):c.633A>G (p.Ile211Met)	SLCO1B1 (I211M)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GLikely benign
Select item 883911	NM_006446.5(SLCO1B1):c.639T>A (p.Asn213Lys)	SLCO1B1 (N213K)	Single nucleotide variant (missense variant)	Rotor syndrome	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 2642775	NM_006446.5(SLCO1B1):c.657T>A (p.Gly219=)	SLCO1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3766743	NM_006446.5(SLCO1B1):c.660A>G (p.Pro220=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GLikely benign
Select item 811089	NM_006446.5(SLCO1B1):c.664A>G (p.Ile222Val)	SLCO1B1 (I222V)	Single nucleotide variant (missense variant)	Rotor syndrome	GConflicting classifications of pathogenicity
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 2436087	NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)	SLCO1B1 (T225I)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 880626	NM_006446.5(SLCO1B1):c.695A>C (p.Lys232Thr)	SLCO1B1 (K232T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307940	NM_006446.5(SLCO1B1):c.703G>A (p.Val235Met)	SLCO1B1 (V235M)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1252928	NM_006446.5(SLCO1B1):c.727+33C>T	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome +1 more	GBenign
Select item 307941	NM_006446.5(SLCO1B1):c.728-17_728-14del	SLCO1B1	Deletion (intron variant)	Rotor syndrome	GBenign/Likely benign
Select item 307942	NM_006446.5(SLCO1B1):c.733A>G (p.Ile245Val)	SLCO1B1 (I245V)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GBenign/Likely benign
Select item 30439	NM_006446.5(SLCO1B1):c.757C>T (p.Arg253Ter)	SLCO1B1 (R253*)	Single nucleotide variant (nonsense)	Rotor syndrome	GPathogenic
Select item 880627	NM_006446.5(SLCO1B1):c.758G>A (p.Arg253Gln)	SLCO1B1 (R253Q)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 880628	NM_006446.5(SLCO1B1):c.786C>T (p.Phe262=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GUncertain significance
Select item 880629	NM_006446.5(SLCO1B1):c.797G>T (p.Gly266Val)	SLCO1B1 (G266V)	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 3320347	NM_006446.5(SLCO1B1):c.841C>G (p.Gln281Glu)	SLCO1B1 (Q281E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2436084	NM_006446.5(SLCO1B1):c.858A>G (p.Pro286=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome	GUncertain significance

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