"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "UGT1A9"[ge - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652019	NM_021027.3(UGT1A9):c.98T>C (p.Met33Thr)	UGT1A, UGT1A10 +2 more (M33T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 585111	NM_019078.2(UGT1A5):c.695del (p.Ala232fs)	UGT1A, UGT1A10 +5 more (A232fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2652020	NM_007120.3(UGT1A4):c.42A>G (p.Thr14=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672867	NM_007120.3(UGT1A4):c.150G>C (p.Glu50Asp)	UGT1A, UGT1A10 +6 more (E50D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2652021	NM_007120.3(UGT1A4):c.699T>C (p.Ser233=)	UGT1A, UGT1A10 +6 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025340	NM_019093.4(UGT1A3):c.396A>G (p.Leu132=)	UGT1A, UGT1A10 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652022	NM_019093.4(UGT1A3):c.804A>G (p.Pro268=)	UGT1A5, UGT1A6 +7 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 12288	NM_001072.4(UGT1A6):c.862-10021T>G	UGT1A, UGT1A5 +8 more	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 12275	UGT1A1*28	UGT1A10, UGT1A3 +8 more	Microsatellite (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A7, UGT1A8 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1175994	NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe)	UGT1A3, UGT1A4 +8 more (V59F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 12280	UGT1A1*6	UGT1A1, UGT1A8 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity; drug response
Select item 335079	NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +4 more	GConflicting classifications of pathogenicity
Select item 289602	NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)	UGT1A7, UGT1A8 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 197147	NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)	UGT1A9, UGT1A4 +8 more	Single nucleotide variant (synonymous variant)	Crigler-Najjar syndrome +3 more	GConflicting classifications of pathogenicity
Select item 444554	NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met)	UGT1A7, UGT1A8 +8 more (V231M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance