"Neonatal Research Center, Shiraz University of Medical Science"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1164006	NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs)	UGT1A, UGT1A1 +8 more (C127fs)	Insertion (frameshift variant +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 1185041	NM_000463.3(UGT1A1):c.389dup (p.Leu130fs)	UGT1A, UGT1A1 +8 more (L130fs)	Duplication (frameshift variant +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 160238	NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu)	UGT1A, UGT1A1 +8 more (V160E)	Single nucleotide variant (intron variant +1 more)	Hyperbilirubinemia	GUncertain significance
Select item 212545	NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)	UGT1A, UGT1A1 +8 more (E241fs)	Microsatellite (frameshift variant +1 more)	UGT1A1-related disorder +2 more	GPathogenic
Select item 12266	NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs)	UGT1A1, UGT1A10 +8 more (Y25fs +4 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1195873	NM_000463.3(UGT1A1):c.931del (p.Val311fs)	UGT1A8, UGT1A9 +8 more (V308fs +4 more)	Deletion (frameshift variant)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12283	NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)	UGT1A3, UGT1A4 +8 more (Q357R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic

ClinVar