"Revvity Omics, Revvity"[submitter] AND "UGT1A1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325329	NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)	UGT1A, UGT1A1 +8 more (A27fs)	Deletion (intron variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2690416	NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)	UGT1A, UGT1A1 +8 more (I30T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1330862	NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)	UGT1A1, UGT1A10 +8 more (L44H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438472	NM_000463.3(UGT1A1):c.164A>G (p.His55Arg)	UGT1A, UGT1A1 +8 more (H55R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690417	NM_000463.3(UGT1A1):c.194C>T (p.Ser65Leu)	UGT1A, UGT1A1 +8 more (S65L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2438474	NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg)	UGT1A5, UGT1A6 +8 more (G96R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434430	NM_000463.3(UGT1A1):c.300del (p.Phe100fs)	UGT1A, UGT1A1 +8 more (F100fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 266037	NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	UGT1A1, UGT1A10 +8 more (D119fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2438471	NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn)	UGT1A, UGT1A1 +8 more (K118N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438469	NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn)	UGT1A, UGT1A1 +8 more (D119N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1339104	NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro)	UGT1A, UGT1A1 +8 more (S120P)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +1 more	GUncertain significance
Select item 2438470	NM_000463.3(UGT1A1):c.387C>G (p.His129Gln)	UGT1A, UGT1A1 +8 more (H129Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438468	NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln)	UGT1A10, UGT1A3 +8 more	Deletion (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2428752	NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)	UGT1A, UGT1A1 +8 more (F170L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2690418	NM_000463.3(UGT1A1):c.611T>C (p.Met204Thr)	UGT1A, UGT1A1 +8 more (M204T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2219234	NM_000463.3(UGT1A1):c.673G>A (p.Val225Met)	UGT1A, UGT1A1 +8 more (V225M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A, UGT1A1 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +6 more	GConflicting classifications of pathogenicity; other
Select item 2438466	NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala)	UGT1A, UGT1A1 +8 more (V226A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438467	NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn)	UGT1A, UGT1A1 +8 more (T232N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438473	NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln)	UGT1A, UGT1A1 +8 more (E236Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A, UGT1A1 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +4 more	GUncertain significance
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A9, UGT1A +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 12283	NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg)	UGT1A, UGT1A1 +8 more (Q357R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 593490	NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)	UGT1A5, UGT1A6 +8 more (R367L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A, UGT1A1 +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 598532	NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)	UGT1A10, UGT1A5 +8 more (R450H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498743	NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr)	UGT1A, UGT1A1 +8 more (H487Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 28