Related gene-specific medical variations for Gene (Select 10599) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690040	NM_006446.5(SLCO1B1):c.629-1G>A	SLCO1B1	Single nucleotide variant (splice acceptor variant)	Rotor syndrome	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 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 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
Select item 812027	NM_006446.5(SLCO1B1):c.1866-2A>G	SLCO1B1	Single nucleotide variant (splice acceptor variant)	not specified	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

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Links from Gene

Items: 23