"Mendelics"[submitter] AND "UGT1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity; drug response
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A, UGT1A10 +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 12269	NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	UGT1A1, UGT1A10 +8 more (R341* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A5, UGT1A6 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +8 more	GConflicting classifications of pathogenicity; other
Select item 1686290	NM_000463.3(UGT1A1):c.1304+1G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (splice donor variant)	Gilbert syndrome	GPathogenic

ClinVar