"OMIM"[submitter] AND "UGT1A9"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A, UGT1A4 +8 more	Single nucleotide variant (intron variant)	Gilbert syndrome +4 more	GConflicting classifications of pathogenicity
Select item 12282	NC_000002.12:g.233758936=	UGT1A, UGT1A6 +8 more	Single nucleotide variant (intron variant)	Lucey-Driscoll syndrome	GPathogenic
Select item 12275	UGT1A1*28	UGT1A3, UGT1A4 +8 more	Microsatellite (intron variant)	Irinotecan response +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 12287	NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	UGT1A, UGT1A1 +8 more (L15R)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +4 more	GLikely pathogenic
Select item 12278	NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)	UGT1A3, UGT1A4 +8 more (Q49*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12280	UGT1A1*6	UGT1A6, UGT1A7 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Irinotecan response +5 more	GConflicting classifications of pathogenicity; drug response
Select item 12276	NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs)	UGT1A10, UGT1A3 +8 more (I159fs)	Insertion (frameshift variant +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12271	NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del)	UGT1A10, UGT1A3 +8 more (F171del)	Microsatellite (inframe_indel +2 more)	not provided	GPathogenic
Select item 12285	NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln)	UGT1A, UGT1A1 +8 more (L175Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic; other
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A6, UGT1A7 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity; other
Select item 12273	NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter)	UGT1A, UGT1A4 +8 more (C280*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12277	NM_000463.3(UGT1A1):c.864+1G>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 12289	NM_000463.3(UGT1A1):c.864+2842G>T	UGT1A10, UGT1A8 +8 more	Single nucleotide variant (intron variant)	Bilirubin, serum level of, quantitative trait locus 1 +1 more	GBenign; association
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 12272	NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	UGT1A, UGT1A4 +8 more (G309E +4 more)	Single nucleotide variant (missense variant)	Gilbert syndrome +1 more	GPathogenic/Likely pathogenic
Select item 12268	NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter)	UGT1A, UGT1A1 +8 more (Q331* +4 more)	Single nucleotide variant (nonsense)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12270	NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A, UGT1A1 +8 more (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 12269	NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	UGT1A, UGT1A5 +8 more (R341* +4 more)	Single nucleotide variant (nonsense)	Gilbert syndrome +2 more	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
Select item 12279	NM_000463.3(UGT1A1):c.1085-2A>G	UGT1A1, UGT1A10 +8 more	Single nucleotide variant (splice acceptor variant)	Crigler-Najjar syndrome type 1	GPathogenic
Select item 12267	NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)	UGT1A10, UGT1A3 +8 more (S376F +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12286	NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp)	UGT1A, UGT1A8 +8 more (N400D +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A10, UGT1A3 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome type 1 +6 more	GPathogenic/Likely pathogenic

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Items: 23