ClinVar for MedGen (Select 67435) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921058	NM_019844.4(SLCO1B3):c.1732G>C (p.Val578Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (V550L +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
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 2920903	NM_019844.4(SLCO1B3):c.1464A>G (p.Gly488=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome	GLikely benign
Select item 2920881	NM_019844.4(SLCO1B3):c.1843A>G (p.Ile615Val)	SLCO1B3, SLCO1B3-SLCO1B7 (I615V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2920821	NM_019844.4(SLCO1B3):c.1200C>A (p.Phe400Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (F372L +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	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 2690040	NM_006446.5(SLCO1B1):c.629-1G>A	SLCO1B1	Single nucleotide variant (splice acceptor variant)	Rotor syndrome	GUncertain significance
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 2506538	GRCh37/hg19 12p12.2-12.1(chr12:21007963-21392123)	SLCO1B1, SLCO1B3 +1 more	Copy number loss	Rotor syndrome	GLikely pathogenic
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 2436109	NM_019844.4(SLCO1B3):c.1274A>G (p.Tyr425Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (Y397C +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436108	NM_019844.4(SLCO1B3):c.1205T>C (p.Leu402Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (L374S +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance
Select item 2436107	NM_019844.4(SLCO1B3):c.1685T>C (p.Ile562Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (I534T +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
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 2436105	NM_019844.4(SLCO1B3):c.1363C>G (p.Pro455Ala)	SLCO1B3, SLCO1B3-SLCO1B7 (P427A +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436104	NM_019844.4(SLCO1B3):c.1241C>A (p.Thr414Asn)	SLCO1B3, SLCO1B3-SLCO1B7 (T386N +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436102	NM_019844.4(SLCO1B3):c.956C>G (p.Thr319Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (T291S +1 more)	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 2436100	NM_019844.4(SLCO1B3):c.1291G>A (p.Glu431Lys)	SLCO1B3, SLCO1B3-SLCO1B7 (E403K +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436099	NM_019844.4(SLCO1B3):c.2020T>A (p.Leu674Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (L646I +1 more)	Single nucleotide variant (missense variant +1 more)	Rotor syndrome	GUncertain significance
Select item 2436098	NM_019844.4(SLCO1B3):c.1147A>G (p.Ile383Val)	SLCO1B3, SLCO1B3-SLCO1B7 (I355V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
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 2436096	NM_019844.4(SLCO1B3):c.1364C>G (p.Pro455Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (P427R +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 2436095	NM_019844.4(SLCO1B3):c.2105A>G (p.Asn702Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (N674S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2428520	NM_019844.4(SLCO1B3):c.481+7A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Rotor syndrome	GLikely benign
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 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 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 1330934	NM_019844.4(SLCO1B3):c.1135+1G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (splice donor variant)	Rotor syndrome	GPathogenic
Select item 1330928	NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs)	SLCO1B3, SLCO1B3-SLCO1B7 (L518fs +1 more)	Duplication (frameshift variant)	SLCO1B3-related condition +1 more	GConflicting classifications of pathogenicity
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 1330844	NM_019844.4(SLCO1B3):c.1974A>C (p.Ala658=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant +1 more)	Rotor syndrome	GLikely benign
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 1330526	NM_019844.4(SLCO1B3):c.481+3A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Rotor syndrome	GLikely benign
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 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 1330411	NM_019844.4(SLCO1B3):c.481+12_481+25del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	Rotor syndrome	GLikely benign
Select item 1330381	NM_006446.5(SLCO1B1):c.482-11T>C	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	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 1252928	NM_006446.5(SLCO1B1):c.727+33C>T	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome +1 more	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 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 995631	NM_019844.4(SLCO1B3):c.1598A>G (p.Lys533Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (K505R +1 more)	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 994331	NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr)	SLCO1B3, SLCO1B3-SLCO1B7 (S200Y +1 more)	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 993882	NM_019844.4(SLCO1B3):c.1309G>A (p.Gly437Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (G409S +1 more)	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
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 993345	NM_019844.4(SLCO1B3):c.-28_-11del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (5 prime UTR variant)	Rotor syndrome +1 more	GBenign
Select item 977762	NC_000012.11:g.21014093_21014094insLINE1	SLCO1B3	Insertion	constitutional indocyanine green excretory defect +1 more	GPathogenic
Select item 915961	GRCh37/hg19 12p12.2-12.1(chr12:21017576-21404166)	SLCO1B7, SLCO1B3 +1 more	Copy number loss	Rotor syndrome	GPathogenic
Select item 883994	NM_006446.5(SLCO1B1):c.1829G>A (p.Arg610His)	SLCO1B1 (R610H)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 883993	NM_006446.5(SLCO1B1):c.1622A>T (p.Gln541Leu)	SLCO1B1 (Q541L)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 883992	NM_006446.5(SLCO1B1):c.1498-8C>T	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GUncertain significance
Select item 883991	NM_006446.5(SLCO1B1):c.1498-12A>G	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GBenign
Select item 883990	NM_006446.5(SLCO1B1):c.1498-15T>C	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome	GUncertain significance
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 883910	NM_006446.5(SLCO1B1):c.455G>C (p.Arg152Thr)	SLCO1B1 (R152T)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 883909	NM_006446.5(SLCO1B1):c.452A>G (p.Asn151Ser)	SLCO1B1 (N151S)	Single nucleotide variant (missense variant)	Rotor syndrome	GBenign
Select item 883838	NM_019844.4(SLCO1B3):c.*509T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (3 prime UTR variant +1 more)	Rotor syndrome	GUncertain significance
Select item 883837	NM_019844.4(SLCO1B3):c.*437A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (3 prime UTR variant +1 more)	Rotor syndrome	GUncertain significance
Select item 883836	NM_019844.4(SLCO1B3):c.*362A>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (3 prime UTR variant +1 more)	Rotor syndrome	GUncertain significance
Select item 883785	NM_019844.4(SLCO1B3):c.1217G>A (p.Gly406Glu)	SLCO1B3, SLCO1B3-SLCO1B7 (G378E +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 883784	NM_019844.4(SLCO1B3):c.1129T>C (p.Leu377=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous 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 883193	NM_006446.5(SLCO1B1):c.1465T>A (p.Cys489Ser)	SLCO1B1 (C489S)	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 883135	NM_006446.5(SLCO1B1):c.311T>A (p.Met104Lys)	SLCO1B1 (M104K)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882990	NM_019844.4(SLCO1B3):c.973T>A (p.Phe325Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (F325I +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882989	NM_019844.4(SLCO1B3):c.803T>G (p.Phe268Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (F268C +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882988	NM_019844.4(SLCO1B3):c.758G>A (p.Arg253His)	SLCO1B3, SLCO1B3-SLCO1B7 (R225H +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882987	NM_019844.4(SLCO1B3):c.757C>T (p.Arg253Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (R225C +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome	GUncertain significance
Select item 882986	NM_019844.4(SLCO1B3):c.731C>G (p.Thr244Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (T244S +1 more)	Single nucleotide variant (missense 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 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 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 882935	NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome	GUncertain significance
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 882109	NM_006446.5(SLCO1B1):c.*145T>C	SLCO1B1	Single nucleotide variant (3 prime UTR variant)	Rotor syndrome	GUncertain significance
Select item 882108	NM_006446.5(SLCO1B1):c.*134A>T	SLCO1B1	Single nucleotide variant (3 prime UTR variant)	Rotor syndrome	GLikely benign

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