"UGT1A9-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055972	NM_021027.3(UGT1A9):c.196C>T (p.Leu66=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related disorder	GBenign
Select item 3032294	NM_021027.3(UGT1A9):c.417G>A (p.Glu139=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related disorder	GLikely benign
Select item 3041957	NM_021027.3(UGT1A9):c.423T>G (p.Ser141=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related disorder	GLikely benign
Select item 3038913	NM_021027.3(UGT1A9):c.432A>G (p.Ala144=)	UGT1A, UGT1A10 +2 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A9-related disorder	GLikely benign
Select item 3046264	NM_021027.3(UGT1A9):c.500T>C (p.Val167Ala)	UGT1A, UGT1A10 +2 more (V167A)	Single nucleotide variant (missense variant +1 more)	UGT1A9-related disorder	GLikely benign
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	Gilbert syndrome +5 more	GConflicting classifications of pathogenicity
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GConflicting classifications of pathogenicity; drug response
Select item 549830	UGT1A1*36	UGT1A8, UGT1A9 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GBenign; drug response
Select item 3031294	NM_021027.3(UGT1A9):c.918A>G (p.Ser306=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A9-related disorder	GLikely benign
Select item 501357	NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)	UGT1A9, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335082	NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)	UGT1A, UGT1A1 +8 more (M441T +4 more)	Single nucleotide variant (missense variant)	UGT1A9-related disorder +4 more	GUncertain significance