"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLCO1B3-S - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2634724	NM_019844.4(SLCO1B3):c.143T>C (p.Met48Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (M20T +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 3045044	NM_019844.4(SLCO1B3):c.153C>T (p.Ser51=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	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)	Rotor syndrome +2 more	GConflicting classifications of pathogenicity
Select item 712105	NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)	SLCO1B3, SLCO1B3-SLCO1B7 (D70fs +1 more)	Duplication (frameshift variant)	not provided +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 disorder	GLikely benign
Select item 2428609	NM_019844.4(SLCO1B3):c.263G>T (p.Gly88Val)	SLCO1B3, SLCO1B3-SLCO1B7 (G60V +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GUncertain significance
Select item 1330853	NM_019844.4(SLCO1B3):c.264A>C (p.Gly88=)	SLCO1B3-SLCO1B7, SLCO1B3	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder +1 more	GLikely benign
Select item 3031104	NM_019844.4(SLCO1B3):c.300T>C (p.Gly100=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	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 disorder +2 more	GBenign
Select item 3030685	NM_019844.4(SLCO1B3):c.342A>G (p.Pro114=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
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 883729	NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser)	SLCO1B3, SLCO1B3-SLCO1B7 (N117S +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
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 3048222	NM_019844.4(SLCO1B3):c.482-10G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related disorder	GLikely benign
Select item 2634168	NM_019844.4(SLCO1B3):c.482-6C>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related disorder	GUncertain significance
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 disorder	GUncertain significance
Select item 3032033	NM_019844.4(SLCO1B3):c.489A>T (p.Val163=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 307890	NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His)	SLCO1B3, SLCO1B3-SLCO1B7 (R181H +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +2 more	GConflicting classifications of pathogenicity
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 disorder +1 more	GUncertain significance
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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 261186	NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (M233I +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +2 more	GBenign
Select item 3032132	NM_019844.4(SLCO1B3):c.702C>T (p.Tyr234=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 811270	NM_019844.4(SLCO1B3):c.728-4C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2629244	NM_019844.4(SLCO1B3):c.763G>C (p.Val255Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (V227L +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 3051441	NM_019844.4(SLCO1B3):c.840G>A (p.Pro280=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 3032630	NM_019844.4(SLCO1B3):c.948A>G (p.Lys316=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 307898	NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu)	SLCO1B3, SLCO1B3-SLCO1B7 (K330E +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GUncertain significance
Select item 3032507	NM_019844.4(SLCO1B3):c.1068T>C (p.Phe356=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 727114	NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=)	SLCO1B3-SLCO1B7, SLCO1B3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2631904	NM_019844.4(SLCO1B3):c.1123A>C (p.Asn375His)	SLCO1B3, SLCO1B3-SLCO1B7 (N347H +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 307900	NM_019844.4(SLCO1B3):c.1135+8A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3048853	NM_019844.4(SLCO1B3):c.1136-13_1136-9del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	SLCO1B3-related disorder	GLikely benign
Select item 3030300	NM_019844.4(SLCO1B3):c.1136-4C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related disorder	GLikely benign
Select item 2635830	NM_019844.4(SLCO1B3):c.1226A>G (p.Lys409Arg)	SLCO1B3, SLCO1B3-SLCO1B7 (K381R +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 307901	NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (T414I +1 more)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GLikely benign
Select item 3029090	NM_019844.4(SLCO1B3):c.1258T>G (p.Leu420Val)	SLCO1B3, SLCO1B3-SLCO1B7 (L392V +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GLikely benign
Select item 307902	NM_019844.4(SLCO1B3):c.1272A>G (p.Leu424=)	SLCO1B3-SLCO1B7, SLCO1B3	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3032943	NM_019844.4(SLCO1B3):c.1290C>T (p.Cys430=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 811660	NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro)	SLCO1B3, SLCO1B3-SLCO1B7 (L410P +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3032765	NM_019844.4(SLCO1B3):c.1328A>G (p.Asp443Gly)	SLCO1B3, SLCO1B3-SLCO1B7 (D415G +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 307905	NM_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe)	SLCO1B3-SLCO1B7, SLCO1B3 (L456F +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3031908	NM_019844.4(SLCO1B3):c.1371T>C (p.Ser457=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 3046175	NM_019844.4(SLCO1B3):c.1498-9del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	SLCO1B3-related disorder	GLikely benign
Select item 261183	NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 307907	NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GConflicting classifications of pathogenicity
Select item 811736	NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys)	SLCO1B3, SLCO1B3-SLCO1B7 (Y509C +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GUncertain significance
Select item 307908	NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=)	SLCO1B3-SLCO1B7, SLCO1B3	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign/Likely benign
Select item 1330928	NM_019844.4(SLCO1B3):c.1637dup (p.Leu546fs)	SLCO1B3, SLCO1B3-SLCO1B7 (L518fs +1 more)	Duplication (frameshift variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3060445	NM_019844.4(SLCO1B3):c.1672T>C (p.Leu558=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 811700	NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly)	SLCO1B3, SLCO1B3-SLCO1B7 (A543G +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GUncertain significance
Select item 3050120	NM_019844.4(SLCO1B3):c.1714A>G (p.Met572Val)	SLCO1B3, SLCO1B3-SLCO1B7 (M544V +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GLikely benign
Select item 2632059	NM_019844.4(SLCO1B3):c.1720T>C (p.Phe574Leu)	SLCO1B3, SLCO1B3-SLCO1B7 (F546L +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 30488	NM_019844.4(SLCO1B3):c.1747+1G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (splice donor variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 618374	NM_019844.4(SLCO1B3):c.1794_1795del (p.Cys599fs)	SLCO1B3, SLCO1B3-SLCO1B7 (C571fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 3050106	NM_019844.4(SLCO1B3):c.1809C>G (p.Ser603=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 2633485	NM_019844.4(SLCO1B3):c.1825G>A (p.Ala609Thr)	SLCO1B3, SLCO1B3-SLCO1B7 (A581T +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder	GUncertain significance
Select item 3029790	NM_019844.4(SLCO1B3):c.1827_1830del (p.Gln610fs)	SLCO1B3, SLCO1B3-SLCO1B7 (Q582fs +1 more)	Deletion (frameshift variant)	SLCO1B3-related disorder	GUncertain significance
Select item 307911	NM_019844.4(SLCO1B3):c.1855G>A (p.Val619Ile)	SLCO1B3, SLCO1B3-SLCO1B7 (V619I +1 more)	Single nucleotide variant (missense variant)	SLCO1B3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3061660	NM_019844.4(SLCO1B3):c.1863T>C (p.Phe621=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	SLCO1B3-related disorder	GLikely benign
Select item 3054796	NM_019844.4(SLCO1B3):c.1866-9T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	SLCO1B3-related disorder	GLikely benign
Select item 3052155	NM_019844.4(SLCO1B3):c.1956A>G (p.Gln652=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant +1 more)	SLCO1B3-related disorder	GLikely benign
Select item 307914	NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 3045857	NM_019844.4(SLCO1B3):c.1980C>T (p.Asp660=)	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (synonymous variant +1 more)	SLCO1B3-related disorder	GLikely benign

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Items: 64