C0220991[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 252725	NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (S138I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	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	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 2436098	NM_019844.4(SLCO1B3):c.1147A>G (p.Ile383Val)	SLCO1B3, SLCO1B3-SLCO1B7 (I355V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	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 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 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 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 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 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 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 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 2436095	NM_019844.4(SLCO1B3):c.2105A>G (p.Asn702Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (N674S +1 more)	Single nucleotide variant (missense variant +1 more)	Rotor syndrome +1 more	GUncertain significance
Select item 632187	NM_006446.5(SLCO1B1):c.84+2T>G	SLCO1B1	Single nucleotide variant (splice donor 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 2436093	NM_006446.5(SLCO1B1):c.284del (p.Lys95fs)	SLCO1B1 (K95fs)	Deletion (frameshift 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 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 2436087	NM_006446.5(SLCO1B1):c.674C>T (p.Thr225Ile)	SLCO1B1 (T225I)	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 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 2436089	NM_006446.5(SLCO1B1):c.1213G>A (p.Val405Ile)	SLCO1B1 (V405I)	Single nucleotide variant (missense variant)	Rotor syndrome	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 2436094	NM_006446.5(SLCO1B1):c.1462G>A (p.Gly488Ser)	SLCO1B1 (G488S)	Single nucleotide variant (missense variant)	Rotor syndrome	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 2436092	NM_006446.5(SLCO1B1):c.1805G>T (p.Trp602Leu)	SLCO1B1 (W602L)	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 2316007	NM_006446.5(SLCO1B1):c.1998T>A (p.Asp666Glu)	SLCO1B1 (D666E)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance

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Items: 32