"Department of Gastroenterology, Ruijin Hospital, Shanghai Jiao Tong U - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1394579	NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly)	UGT1A, UGT1A1 +8 more (A61G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1676205	NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe)	UGT1A, UGT1A1 +8 more (Y67F)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome	GUncertain significance
Select item 1676206	NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs)	UGT1A, UGT1A1 +8 more (L166fs)	Deletion (frameshift variant +1 more)	Gilbert syndrome	GPathogenic
Select item 1676207	NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys)	UGT1A, UGT1A1 +8 more (R240K)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome	GUncertain significance
Select item 1676208	NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe)	UGT1A, UGT1A1 +8 more (S303F +4 more)	Single nucleotide variant (missense variant)	Gilbert syndrome	GLikely pathogenic
Select item 1428088	NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln)	UGT1A, UGT1A1 +8 more (R338Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676209	NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter)	UGT1A, UGT1A1 +8 more (E156* +4 more)	Single nucleotide variant (nonsense)	Gilbert syndrome	GPathogenic

ClinVar