"GeneDx"[submitter] AND "SLCO1B1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59435	GRCh38/hg38 12p12.2-12.1(chr12:20855565-21224388)x1	LOC126861478, SLCO1B1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 151289	GRCh38/hg38 12p12.2-12.1(chr12:20864642-21203648)x1	LOC126861478, SLCO1B1 +3 more	Copy number loss	See cases	GBenign/Likely benign
Select item 1225618	NM_006446.5(SLCO1B1):c.-61-217_-61-214del	SLCO1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1247535	NM_006446.5(SLCO1B1):c.-61-155T>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282967	NM_006446.5(SLCO1B1):c.84+193G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256789	NM_006446.5(SLCO1B1):c.85-237G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224048	NM_006446.5(SLCO1B1):c.226+89T>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291737	NM_006446.5(SLCO1B1):c.226+224A>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 440285	NM_006446.4(SLCO1B1):c.359+10[16]	SLCO1B1	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 307934	NM_006446.5(SLCO1B1):c.359+23dup	SLCO1B1	Duplication (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1247145	NM_006446.5(SLCO1B1):c.359+97C>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229323	NM_006446.5(SLCO1B1):c.360-320C>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239245	NM_006446.5(SLCO1B1):c.360-286T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259983	NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)	SLCO1B1 (N130D)	Single nucleotide variant (missense variant)	Rotor syndrome +2 more	GBenign
Select item 307936	NM_006446.5(SLCO1B1):c.411G>A (p.Ser137=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 1241265	NM_006446.5(SLCO1B1):c.481+160C>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240607	NM_006446.5(SLCO1B1):c.481+165A>T	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246860	NM_006446.5(SLCO1B1):c.481+189G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295257	NM_006446.5(SLCO1B1):c.481+191G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246676	NM_006446.5(SLCO1B1):c.482-331G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181238	NM_006446.5(SLCO1B1):c.482-112_482-107del	SLCO1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 37346	NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)	SLCO1B1 (V174A)	Single nucleotide variant (missense variant)	rosuvastatin response - Toxicity +14 more	Gdrug response
Select item 259984	NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=)	SLCO1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 259985	NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=)	SLCO1B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1252928	NM_006446.5(SLCO1B1):c.727+33C>T	SLCO1B1	Single nucleotide variant (intron variant)	Rotor syndrome +1 more	GBenign
Select item 307944	NM_006446.5(SLCO1B1):c.1086C>T (p.Tyr362=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 1282401	NM_006446.5(SLCO1B1):c.1135+42A>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236379	NM_006446.5(SLCO1B1):c.1135+66G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277787	NM_006446.5(SLCO1B1):c.1135+266A>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295262	NM_006446.5(SLCO1B1):c.1135+305C>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307947	NM_006446.5(SLCO1B1):c.1248G>A (p.Val416=)	SLCO1B1	Single nucleotide variant (synonymous variant)	Rotor syndrome +1 more	GBenign
Select item 1291880	NM_006446.5(SLCO1B1):c.1498-170C>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234509	NM_006446.5(SLCO1B1):c.1498-89T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242279	NM_006446.5(SLCO1B1):c.1498-68G>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235207	NM_006446.5(SLCO1B1):c.1683-173T>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289665	NM_006446.5(SLCO1B1):c.1683-171G>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307957	NM_006446.5(SLCO1B1):c.1747+9A>G	SLCO1B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1242734	NM_006446.5(SLCO1B1):c.1748-159C>A	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295279	NM_006446.5(SLCO1B1):c.1748-97G>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250889	NM_006446.5(SLCO1B1):c.1866-95T>C	SLCO1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 307959	NM_006446.5(SLCO1B1):c.1929A>C (p.Leu643Phe)	SLCO1B1 (L643F)	Single nucleotide variant (missense variant)	Rotor syndrome +1 more	GBenign
Select item 307963	NM_006446.5(SLCO1B1):c.*167T>C	SLCO1B1	Single nucleotide variant (3 prime UTR variant)	Rotor syndrome +1 more	GBenign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 44