"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLCO1B3 - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 307885	NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (F36L +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GBenign/Likely benign
Select item 712105	NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)	SLCO1B3-SLCO1B7, SLCO1B3 (D70fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307886	NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr)	SLCO1B3, SLCO1B3-SLCO1B7 (S112Y +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +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 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 307890	NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His)	SLCO1B3, SLCO1B3-SLCO1B7 (R181H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 307895	NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 736406	NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 724243	NM_019844.4(SLCO1B3):c.1074C>T (p.Tyr358=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 727114	NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 307904	NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 722875	NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala)	SLCO1B3, SLCO1B3-SLCO1B7 (V560A +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 769234	NM_019844.4(SLCO1B3):c.1833= (p.Gly611=)	SLCO1B3, SLCO1B3-SLCO1B7	Variation (no sequence alteration)	not provided	GBenign
Select item 307912	NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2423437	NC_000012.11:g.(?_20522219)_(22089608_?)dup	ABCC9, GOLT1B +13 more	Duplication	not provided	GUncertain significance