ClinVar (all) for Orgtrack (Select 507126) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810735	NM_001371097.1(SLCO1B3-SLCO1B7):c.1865+19721C>T	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Gilbert syndrome	GBenign
Select item 810734	NM_019844.4(SLCO1B3):c.727+2087T>C	SLCO1B3, SLCO1B3-SLCO1B7	Single nucleotide variant (intron variant)	Gilbert syndrome	GBenign
Select item 810733	NM_000463.3(UGT1A1):c.864+2925T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Gilbert syndrome	GBenign
Select item 810732	NM_001072.4(UGT1A6):c.862-9898G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	irinotecan response - Toxicity	Gdrug response
Select item 594666	NM_001072.4(UGT1A6):c.862-6799_862-6798insTA	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	UGT1A1-related disorder +1 more	GPathogenic; other
Select item 259983	NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)	SLCO1B1 (N130D)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A5, UGT1A8 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia +8 more	GConflicting classifications of pathogenicity; other
Select item 160241	NM_000463.3(UGT1A1):c.996+15T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 37346	NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)	SLCO1B1 (V174A)	Single nucleotide variant (missense variant)	simvastatin acid response - Metabolism/PK +14 more	Gdrug response
Select item 12289	NM_000463.3(UGT1A1):c.864+2842G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Bilirubin, serum level of, quantitative trait locus 1 +1 more	GBenign; association
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Gilbert syndrome +5 more	GConflicting classifications of pathogenicity
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A, UGT1A1 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +7 more	GPathogenic/Likely pathogenic
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other