"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "UGT1A9"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 2683779	NM_001072.4(UGT1A6):c.862-6787_862-6786insGT	UGT1A, UGT1A1 +8 more	Insertion (intron variant)	not provided	GUncertain significance
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (intron variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response
Select item 289882	NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	UGT1A, UGT1A1 +8 more (V109A)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2682821	NM_000463.3(UGT1A1):c.516G>T (p.Leu172Phe)	UGT1A, UGT1A1 +8 more (L172F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A, UGT1A1 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related condition +6 more	GConflicting classifications of pathogenicity; other
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related condition +2 more	GConflicting classifications of pathogenicity; other
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A1, UGT1A10 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 12272	NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	UGT1A, UGT1A1 +8 more (G309E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 724578	NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)	UGT1A, UGT1A1 +8 more (I322V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12270	NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A, UGT1A6 +8 more (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A, UGT1A1 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome type 1 +8 more	GConflicting classifications of pathogenicity; other
Select item 593490	NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)	UGT1A5, UGT1A6 +8 more (R367L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498022	NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)	UGT1A7, UGT1A8 +8 more (V386I +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +1 more	GUncertain significance
Select item 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A, UGT1A1 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163439	NM_000463.3(UGT1A1):c.1305-15T>C	UGT1A3, UGT1A5 +8 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 197672	NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	UGT1A10, UGT1A3 +8 more (P183L +4 more)	Single nucleotide variant (missense variant)	Bilirubin, serum level of, quantitative trait locus 1 +5 more	GConflicting classifications of pathogenicity
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A4, UGT1A5 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +7 more	GPathogenic/Likely pathogenic
Select item 498743	NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr)	UGT1A, UGT1A1 +8 more (H487Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 20