"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "UGT1A8"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235021	NM_000463.3(UGT1A1):c.92T>G (p.Leu31Arg)	UGT1A1, UGT1A +8 more (L31R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome type 1	GUncertain significance
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 3242206	NM_000463.3(UGT1A1):c.247T>C (p.Phe83Leu)	UGT1A, UGT1A1 +8 more (F83L)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 160236	NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys)	UGT1A, UGT1A1 +8 more (R108C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 266037	NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	UGT1A10, UGT1A5 +8 more (D119fs)	Duplication (frameshift variant +1 more)	Crigler-Najjar syndrome type 1 +3 more	GPathogenic/Likely pathogenic
Select item 1339104	NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)	UGT1A, UGT1A1 +8 more (S120P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2627409	NM_000463.3(UGT1A1):c.418del (p.Leu140fs)	UGT1A, UGT1A1 +8 more (L140fs)	Deletion (frameshift variant +1 more)	Crigler-Najjar syndrome, type II	GLikely pathogenic
Select item 1338467	NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr)	UGT1A, UGT1A1 +8 more (C177Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 420162	NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)	UGT1A, UGT1A1 +8 more (G362S +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +2 more	GConflicting classifications of pathogenicity
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
Select item 3367007	NM_000463.3(UGT1A1):c.1544G>A (p.Arg515Gln)	UGT1A, UGT1A1 +8 more (R247Q +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome	GUncertain significance