SLCO1B3[gene] - 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	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	A2M, A2M-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC130007649, LOC130007650 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	LOC124625919, LOC124625920 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	A2M, A2M-AS1 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC130007425, LOC130007426 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	WBP11, WNK1 +1242 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 146283	GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1	LOC129390413, LOC129390414 +133 more	Copy number loss	See cases	GLikely pathogenic
Select item 58988	GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1	ABCC9, AEBP2 +179 more	Copy number loss	See cases	GPathogenic
Select item 307880	NM_019844.3(SLCO1B3):c.-241G>A	SLCO1B3	Single nucleotide variant	Rotor syndrome	GBenign
Select item 307881	NM_019844.4(SLCO1B3):c.-181+15G>C	SLCO1B3	Single nucleotide variant (intron variant)	Rotor syndrome	GUncertain significance
Select item 307882	NM_019844.4(SLCO1B3):c.-180-7T>G	SLCO1B3	Single nucleotide variant (intron variant)	Rotor syndrome	GBenign
Select item 881786	NM_019844.4(SLCO1B3):c.-147A>T	SLCO1B3	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GUncertain significance
Select item 881787	NM_019844.4(SLCO1B3):c.-145G>C	SLCO1B3	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GUncertain significance
Select item 307883	NM_019844.4(SLCO1B3):c.-128del	SLCO1B3	Deletion (5 prime UTR variant)	Rotor syndrome	GLikely benign
Select item 307884	NM_019844.4(SLCO1B3):c.-90C>T	SLCO1B3	Single nucleotide variant (5 prime UTR variant)	Rotor syndrome	GBenign
Select item 993345	NM_019844.4(SLCO1B3):c.-28_-11del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (5 prime UTR variant)	Rotor syndrome +1 more	GBenign
Select item 440287	NM_019844.4(SLCO1B3):c.-7_-4del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 2536184	NM_019844.4(SLCO1B3):c.4G>A (p.Asp2Asn)	SLCO1B3, SLCO1B3-SLCO1B7 (D2N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 376892	NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (H4R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 882934	NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (K9T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436101	NM_019844.4(SLCO1B3):c.67C>T (p.Arg23Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (R23C)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 719501	NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2585172	NM_019844.4(SLCO1B3):c.83A>C (p.Lys28Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (K28T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1274436	NM_019844.4(SLCO1B3):c.84+72C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287212	NM_019844.4(SLCO1B3):c.84+124A>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 882935	NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome	GUncertain significance
Select item 307885	NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (F36L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2320409	NM_019844.4(SLCO1B3):c.130G>A (p.Gly44Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (G16S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634724	NM_019844.4(SLCO1B3):c.143T>C (p.Met48Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (M20T +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition	GUncertain significance
Select item 882936	NM_019844.4(SLCO1B3):c.147A>C (p.Lys49Asn)	SLCO1B3, SLCO1B3-SLCO1B7 (K21N +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882937	NM_019844.4(SLCO1B3):c.148A>G (p.Ile50Val)	SLCO1B3, SLCO1B3-SLCO1B7 (I22V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 3045044	NM_019844.4(SLCO1B3):c.153C>T (p.Ser51=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition	GLikely benign
Select item 377085	NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val)	SLCO1B3, SLCO1B3-SLCO1B7 (I52V +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2436097	NM_019844.4(SLCO1B3):c.170_174del (p.Arg57fs)	SLCO1B3, SLCO1B3-SLCO1B7 (R29fs +1 more)	Deletion (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 882938	NM_019844.4(SLCO1B3):c.176T>C (p.Phe59Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (F59S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 631674	NM_019844.4(SLCO1B3):c.203dup (p.Leu68fs)	SLCO1B3, SLCO1B3-SLCO1B7 (L40fs +1 more)	Duplication (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 712105	NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)	SLCO1B3, SLCO1B3-SLCO1B7 (D70fs +1 more)	Duplication (frameshift variant)	Rotor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3047856	NM_019844.4(SLCO1B3):c.226+5C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related condition	GLikely benign
Select item 1252625	NM_019844.4(SLCO1B3):c.226+253T>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1222411	NM_019844.4(SLCO1B3):c.227-138T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239811	NM_019844.4(SLCO1B3):c.227-77A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287231	NM_019844.4(SLCO1B3):c.227-63T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330435	NM_019844.4(SLCO1B3):c.227G>T (p.Gly76Val)	SLCO1B3, SLCO1B3-SLCO1B7 (G48V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2428609	NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val)	SLCO1B3, SLCO1B3-SLCO1B7 (G60V +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +1 more	GUncertain significance
Select item 1330853	NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition +1 more	GLikely benign
Select item 993387	NM_019844.4(SLCO1B3):c.275A>G (p.His92Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (H64R +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 631675	NM_019844.4(SLCO1B3):c.291del (p.Ile97fs)	SLCO1B3, SLCO1B3-SLCO1B7 (I69fs +1 more)	Deletion (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 2511599	NM_019844.4(SLCO1B3):c.292G>C (p.Gly98Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (G98R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031104	NM_019844.4(SLCO1B3):c.300T>C (p.Gly100=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition	GLikely benign
Select item 261184	NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala)	SLCO1B3, SLCO1B3-SLCO1B7 (S112A +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +2 more	GBenign
Select item 307886	NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr)	SLCO1B3, SLCO1B3-SLCO1B7 (S112Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3030685	NM_019844.4(SLCO1B3):c.342A>G (p.Pro114=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition	GLikely benign
Select item 1286427	NM_019844.4(SLCO1B3):c.359+76G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234904	NM_019844.4(SLCO1B3):c.359+308C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230577	NM_019844.4(SLCO1B3):c.360-320C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228354	NM_019844.4(SLCO1B3):c.360-310A>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250632	NM_019844.4(SLCO1B3):c.360-273A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631676	NM_019844.4(SLCO1B3):c.360-3_362del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (splice acceptor variant)	Rotor syndrome	GUncertain significance
Select item 261185	NM_019844.4(SLCO1B3):c.360-3C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 811048	NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (S107L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 252725	NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (S138I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 632182	NM_019844.4(SLCO1B3):c.432_435del (p.Asn145fs)	SLCO1B3, SLCO1B3-SLCO1B7 (N145fs +1 more)	Microsatellite (frameshift variant)	Rotor syndrome	GUncertain significance
Select item 883729	NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (N117S +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 307887	NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala)	SLCO1B3, SLCO1B3-SLCO1B7 (T147A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2436106	NM_019844.4(SLCO1B3):c.446_448del (p.Ser149del)	SLCO1B3, SLCO1B3-SLCO1B7 (S121del +1 more)	Deletion (inframe_deletion)	Rotor syndrome +1 more	GUncertain significance
Select item 881392	NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome	GConflicting classifications of pathogenicity
Select item 307888	NM_019844.4(SLCO1B3):c.471A>G (p.Ile157Met)	SLCO1B3, SLCO1B3-SLCO1B7 (I157M +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 1330526	NM_019844.4(SLCO1B3):c.481+3A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Rotor syndrome	GLikely benign
Select item 2428520	NM_019844.4(SLCO1B3):c.481+7A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Rotor syndrome	GLikely benign
Select item 1330411	NM_019844.4(SLCO1B3):c.481+12_481+25del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	Rotor syndrome	GLikely benign
Select item 1262764	NM_019844.4(SLCO1B3):c.481+67C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247275	NM_019844.4(SLCO1B3):c.481+91T>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237138	NM_019844.4(SLCO1B3):c.481+197G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268707	NM_019844.4(SLCO1B3):c.481+271C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280289	NM_019844.4(SLCO1B3):c.482-300C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249816	NM_019844.4(SLCO1B3):c.482-271G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230619	NM_019844.4(SLCO1B3):c.482-207G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287831	NM_019844.4(SLCO1B3):c.482-141C>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252130	NM_019844.4(SLCO1B3):c.482-103C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3048222	NM_019844.4(SLCO1B3):c.482-10G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related condition	GLikely benign
Select item 2634168	NM_019844.4(SLCO1B3):c.482-6C>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related condition	GUncertain significance
Select item 618375	NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly)	SLCO1B3, SLCO1B3-SLCO1B7 (C162G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2636745	NM_019844.4(SLCO1B3):c.485G>A (p.Cys162Tyr)	SLCO1B3, SLCO1B3-SLCO1B7 (C134Y +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition	GUncertain significance
Select item 3032033	NM_019844.4(SLCO1B3):c.489A>T (p.Val163=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related condition	GLikely benign
Select item 307889	NM_019844.4(SLCO1B3):c.518A>G (p.Tyr173Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (Y173C +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2211464	NM_019844.4(SLCO1B3):c.537G>A (p.Met179Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (M151I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881393	NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (R153C +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307890	NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His)	SLCO1B3, SLCO1B3-SLCO1B7 (R181H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 881394	NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn)	SLCO1B3, SLCO1B3-SLCO1B7 (T186N +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 995644	NM_019844.4(SLCO1B3):c.560C>G (p.Pro187Arg)	SLCO1B3-SLCO1B7, SLCO1B3 (P159R +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2442029	NM_019844.4(SLCO1B3):c.587T>C (p.Ile196Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (I168T +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 307891	NM_019844.4(SLCO1B3):c.592G>A (p.Asp198Asn)	SLCO1B3, SLCO1B3-SLCO1B7 (D198N +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +1 more	GUncertain significance
Select item 307892	NM_019844.4(SLCO1B3):c.628+4A>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Rotor syndrome	GUncertain significance
Select item 1297898	NM_019844.4(SLCO1B3):c.629-80A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 881835	NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met)	SLCO1B3, SLCO1B3-SLCO1B7 (I215M +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2543360	NM_019844.4(SLCO1B3):c.647G>T (p.Gly216Val)	SLCO1B3, SLCO1B3-SLCO1B7 (G188V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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