"GeneDx"[submitter] AND "SLCO1B3-SLCO1B7"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993345	NM_019844.4(SLCO1B3):c.-28_-11del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (5 prime UTR variant)	Rotor syndrome +1 more	GBenign
Select item 440287	NM_019844.4(SLCO1B3):c.-7_-4del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1274436	NM_019844.4(SLCO1B3):c.84+72C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287212	NM_019844.4(SLCO1B3):c.84+124A>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252625	NM_019844.4(SLCO1B3):c.226+253T>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1222411	NM_019844.4(SLCO1B3):c.227-138T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239811	NM_019844.4(SLCO1B3):c.227-77A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287231	NM_019844.4(SLCO1B3):c.227-63T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 condition +2 more	GBenign
Select item 1286427	NM_019844.4(SLCO1B3):c.359+76G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234904	NM_019844.4(SLCO1B3):c.359+308C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230577	NM_019844.4(SLCO1B3):c.360-320C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228354	NM_019844.4(SLCO1B3):c.360-310A>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250632	NM_019844.4(SLCO1B3):c.360-273A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1262764	NM_019844.4(SLCO1B3):c.481+67C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247275	NM_019844.4(SLCO1B3):c.481+91T>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237138	NM_019844.4(SLCO1B3):c.481+197G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268707	NM_019844.4(SLCO1B3):c.481+271C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280289	NM_019844.4(SLCO1B3):c.482-300C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249816	NM_019844.4(SLCO1B3):c.482-271G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230619	NM_019844.4(SLCO1B3):c.482-207G>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287831	NM_019844.4(SLCO1B3):c.482-141C>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252130	NM_019844.4(SLCO1B3):c.482-103C>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297898	NM_019844.4(SLCO1B3):c.629-80A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 condition +2 more	GBenign
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 1225845	NM_019844.4(SLCO1B3):c.728-76T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231928	NM_019844.4(SLCO1B3):c.971-252A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245643	NM_019844.4(SLCO1B3):c.971-124G>A	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227686	NM_019844.4(SLCO1B3):c.971-116C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276630	NM_019844.4(SLCO1B3):c.1135+150A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182385	NM_019844.4(SLCO1B3):c.1135+206_1135+228del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	not provided	GBenign
Select item 1237370	NM_019844.4(SLCO1B3):c.1135+283A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295238	NM_019844.4(SLCO1B3):c.1136-197C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264508	NM_019844.4(SLCO1B3):c.1136-128T>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271029	NM_019844.4(SLCO1B3):c.1498-250A>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221385	NM_019844.4(SLCO1B3):c.1498-184T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286908	NM_019844.4(SLCO1B3):c.1498-82T>G	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
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 1178617	NM_019844.4(SLCO1B3):c.1682+147A>C	SLCO1B3-SLCO1B7, SLCO1B3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265202	NM_019844.4(SLCO1B3):c.1682+250_1682+253del	SLCO1B3, SLCO1B3-SLCO1B7	Deletion (intron variant)	not provided	GBenign
Select item 1250977	NM_019844.4(SLCO1B3):c.1747+55C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234214	NM_019844.4(SLCO1B3):c.1866-239C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 45