"Eurofins Ntd Llc (ga)"[submitter] AND "UGT1A9"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 594666	NM_000463.2(UGT1A1):c.-53_-52insTA	UGT1A3, UGT1A4 +8 more	Insertion (intron variant)	not provided +1 more	GPathogenic; other
Select item 597216	NM_000463.3(UGT1A1):c.-4C>T	UGT1A1, UGT1A10 +8 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 500778	NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser)	UGT1A3, UGT1A4 +8 more (G7S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 597581	NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg)	UGT1A, UGT1A5 +8 more (G8R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 291189	NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val)	UGT1A, UGT1A1 +8 more (A46V)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +5 more	GUncertain significance
Select item 289738	NM_000463.3(UGT1A1):c.138C>T (p.Ala46=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A9, UGT1A +8 more	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 597578	NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu)	UGT1A, UGT1A1 +8 more (Q48E)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +3 more	GUncertain significance
Select item 598040	NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 596451	NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala)	UGT1A6, UGT1A5 +8 more (E56A)	Single nucleotide variant (missense variant +1 more)	Gilbert syndrome +3 more	GUncertain significance
Select item 500144	NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)	UGT1A1, UGT1A10 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 598689	NM_000463.3(UGT1A1):c.195G>A (p.Ser65=)	UGT1A9, UGT1A +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 498761	NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu)	UGT1A, UGT1A1 +8 more (D70E)	Single nucleotide variant (missense variant +1 more)	not provided	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 437210	NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)	UGT1A, UGT1A1 +8 more (Y74*)	Single nucleotide variant (nonsense +1 more)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 335080	NM_000463.3(UGT1A1):c.300T>C (p.Phe100=)	UGT1A6, UGT1A7 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +3 more	GUncertain significance
Select item 289882	NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	UGT1A, UGT1A1 +8 more (V109A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 594558	NM_000463.3(UGT1A1):c.386A>G (p.His129Arg)	UGT1A1, UGT1A10 +8 more (H129R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 497962	NM_000463.3(UGT1A1):c.399C>G (p.Asn133Lys)	UGT1A, UGT1A1 +8 more (N133K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596704	NM_000463.3(UGT1A1):c.428G>A (p.Ser143Asn)	UGT1A, UGT1A1 +8 more (S143N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 335081	NM_000463.3(UGT1A1):c.477C>T (p.Ile159=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +3 more	GConflicting classifications of pathogenicity
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 289602	NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Crigler-Najjar syndrome +4 more	GConflicting classifications of pathogenicity
Select item 284079	NM_000463.3(UGT1A1):c.575A>G (p.Tyr192Cys)	UGT1A8, UGT1A9 +8 more (Y192C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 290430	NM_000463.3(UGT1A1):c.577G>A (p.Val193Met)	UGT1A3, UGT1A +8 more (V193M)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +4 more	GUncertain significance
Select item 437209	NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)	UGT1A, UGT1A1 +8 more (R209fs)	Duplication (frameshift variant +1 more)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A1, UGT1A10 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity; 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 212545	NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)	UGT1A, UGT1A1 +8 more (E241fs)	Microsatellite (frameshift variant +1 more)	UGT1A1-related disorder +2 more	GPathogenic
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A, UGT1A1 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	Hyperbilirubinemia +4 more	GUncertain significance
Select item 502774	NM_000463.3(UGT1A1):c.801C>T (p.Pro267=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 595764	NM_000463.3(UGT1A1):c.817G>T (p.Val273Phe)	UGT1A9, UGT1A5 +8 more (V273F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A8, UGT1A9 +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +1 more	GConflicting classifications of pathogenicity
Select item 595180	NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly)	UGT1A, UGT1A1 +8 more (C280G)	Single nucleotide variant (missense variant +1 more)	Lucey-Driscoll syndrome +3 more	GUncertain significance
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 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 593170	NM_000463.3(UGT1A1):c.907G>A (p.Val303Met)	UGT1A, UGT1A1 +8 more (V303M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 499349	NM_000463.3(UGT1A1):c.1001T>A (p.Leu334Gln)	UGT1A, UGT1A1 +8 more (L334Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 437450	NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)	UGT1A1, UGT1A10 +8 more (R336W +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +1 more	GPathogenic
Select item 598355	NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 597089	NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg)	UGT1A, UGT1A1 +8 more (W354R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285285	NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter)	UGT1A, UGT1A1 +8 more (Q357* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 291197	NM_000463.3(UGT1A1):c.1073A>C (p.Asn358Thr)	UGT1A, UGT1A1 +8 more (N358T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 160229	NM_000463.3(UGT1A1):c.1084+1G>T	UGT1A6, UGT1A7 +8 more	Single nucleotide variant (splice donor variant)	Hyperbilirubinemia +1 more	GPathogenic/Likely pathogenic
Select item 497628	NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val)	UGT1A, UGT1A1 +8 more (G362V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A7, UGT1A8 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity; other
Select item 288098	NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)	UGT1A6, UGT1A7 +8 more (R367C +4 more)	Single nucleotide variant (missense variant)	Bilirubin, serum level of, quantitative trait locus 1 +5 more	GUncertain significance
Select item 593490	NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu)	UGT1A, UGT1A1 +8 more (R367L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 595091	NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val)	UGT1A5, UGT1A6 +8 more (I370V +4 more)	Single nucleotide variant (missense variant)	Gilbert syndrome +1 more	GUncertain significance
Select item 595840	NM_000463.3(UGT1A1):c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis)	UGT1A, UGT1A1 +8 more	Indel (inframe_indel)	not provided	GUncertain significance
Select item 197147	NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	Gilbert syndrome +3 more	GConflicting classifications of pathogenicity
Select item 498022	NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)	UGT1A, UGT1A3 +8 more (V386I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597250	NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg)	UGT1A, UGT1A1 +8 more (P119R +4 more)	Indel (missense variant)	not provided	GLikely pathogenic
Select item 501357	NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=)	UGT1A3, UGT1A5 +8 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 596945	NM_000463.3(UGT1A1):c.1170G>A (p.Met390Ile)	UGT1A10, UGT1A3 +8 more (M390I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593954	NM_000463.3(UGT1A1):c.1174C>T (p.Pro392Ser)	UGT1A9, UGT1A3 +8 more (P392S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285286	NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)	UGT1A6, UGT1A +8 more (P392L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594091	NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His)	UGT1A, UGT1A1 +8 more (N400H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498359	NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys)	UGT1A, UGT1A1 +8 more (R403C +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 502603	NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His)	UGT1A5, UGT1A7 +8 more (R403H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A8, UGT1A9 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia +1 more	GUncertain significance
Select item 335082	NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr)	UGT1A6, UGT1A7 +8 more (M441T +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A3, UGT1A4 +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +6 more	GUncertain significance
Select item 596200	NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys)	UGT1A3, UGT1A4 +8 more (R450C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598532	NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)	UGT1A, UGT1A1 +8 more (R450H +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GUncertain significance
Select item 197672	NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	UGT1A, UGT1A1 +8 more (P183L +4 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 596187	NM_000463.3(UGT1A1):c.1455G>A (p.Gln485=)	UGT1A3, UGT1A4 +8 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 597100	NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 498743	NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr)	UGT1A5, UGT1A6 +8 more (H487Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596165	NM_000463.3(UGT1A1):c.1470C>T (p.Asp490=)	UGT1A1, UGT1A10 +8 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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
Select item 596188	NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu)	UGT1A8, UGT1A9 +8 more (R515L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 497447	NM_000463.3(UGT1A1):c.1555G>A (p.Gly519Arg)	UGT1A5, UGT1A6 +8 more (G519R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501342	NM_000463.3(UGT1A1):c.1558A>G (p.Lys520Glu)	UGT1A3, UGT1A +8 more (K520E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499069	NM_000463.3(UGT1A1):c.1564G>A (p.Gly522Arg)	UGT1A3, UGT1A4 +8 more (G522R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 76