"PreventionGenetics, part of Exact Sciences"[submitter] AND "UGT1A9"[g - ClinVar

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Items: 72

	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 3057417	NM_001072.4(UGT1A6):c.862-10037A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-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 3029105	NM_001072.4(UGT1A6):c.862-8101C>T	UGT1A7, UGT1A8 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 1265916	NM_019076.5(UGT1A8):c.856-6852T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder +1 more	GBenign
Select item 2634101	NM_001072.4(UGT1A6):c.862-6831_862-6829dup	UGT1A, UGT1A1 +8 more	Duplication (intron variant)	UGT1A1-related disorder	GPathogenic
Select item 549829	UGT1A1*37	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GConflicting classifications of pathogenicity; drug response
Select item 12275	UGT1A1*28	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response; other
Select item 549830	UGT1A1*36	UGT1A8, UGT1A9 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GBenign; drug response
Select item 1895626	NM_001072.4(UGT1A6):c.862-6792A>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3054763	NM_000463.3(UGT1A1):c.21C>T (p.Gly7=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 3030595	NM_000463.3(UGT1A1):c.45G>C (p.Leu15=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 2428552	NM_000463.3(UGT1A1):c.57G>A (p.Val19=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3032879	NM_000463.3(UGT1A1):c.78T>C (p.His26=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 2690416	NM_000463.3(UGT1A1):c.89T>C (p.Ile30Thr)	UGT1A8, UGT1A9 +8 more (I30T)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +1 more	GUncertain significance
Select item 3040289	NM_000463.3(UGT1A1):c.125G>A (p.Ser42Asn)	UGT1A, UGT1A1 +8 more (S42N)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 160234	NM_000463.3(UGT1A1):c.141C>T (p.Ile47=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Hyperbilirubinemia +6 more	GConflicting classifications of pathogenicity
Select item 598040	NM_000463.3(UGT1A1):c.159G>A (p.Arg53=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 500144	NM_000463.3(UGT1A1):c.189C>T (p.Asp63=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	Gilbert syndrome +4 more	GConflicting classifications of pathogenicity
Select item 3029932	NM_000463.3(UGT1A1):c.196T>C (p.Leu66=)	UGT1A4, UGT1A6 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder	GLikely benign
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +4 more	GConflicting classifications of pathogenicity; drug response
Select item 212544	NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)	UGT1A10, UGT1A3 +8 more (P80fs)	Insertion (frameshift variant +1 more)	Hyperbilirubinemia +2 more	GPathogenic
Select item 2636430	NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys)	UGT1A5, UGT1A +8 more (R85K)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 733847	NM_000463.3(UGT1A1):c.282T>C (p.Ser94=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder +1 more	GLikely benign
Select item 335079	NM_000463.3(UGT1A1):c.294T>C (p.Asn98=)	UGT1A1, UGT1A10 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 289882	NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala)	UGT1A, UGT1A1 +8 more (V109A)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome +4 more	GConflicting classifications of pathogenicity
Select item 266037	NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)	UGT1A3, UGT1A6 +8 more (D119fs)	Duplication (frameshift variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1330555	NM_000463.3(UGT1A1):c.471C>T (p.Ser157=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2629913	NM_000463.3(UGT1A1):c.506T>A (p.Val169Glu)	UGT1A, UGT1A1 +8 more (V169E)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 2428752	NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu)	UGT1A4, UGT1A +8 more (F170L)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder +1 more	GUncertain significance
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 +1 more	GPathogenic/Likely pathogenic; other
Select item 2629503	NM_000463.3(UGT1A1):c.614C>T (p.Thr205Ile)	UGT1A, UGT1A1 +8 more (T205I)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related disorder	GUncertain significance
Select item 2203287	NM_000463.3(UGT1A1):c.615del (p.Phe206fs)	UGT1A, UGT1A1 +8 more (F206fs)	Deletion (frameshift variant +1 more)	UGT1A1-related disorder +1 more	GPathogenic
Select item 437211	NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)	UGT1A7, UGT1A8 +8 more (R209W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 160239	NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly)	UGT1A4, UGT1A5 +8 more (V225G)	Single nucleotide variant (missense variant +1 more)	Hyperbilirubinemia +6 more	GConflicting classifications of pathogenicity; other
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity; other
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A, UGT1A5 +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	Crigler-Najjar syndrome, type II +2 more	GConflicting classifications of pathogenicity
Select item 3054675	NM_000463.3(UGT1A1):c.864+10G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	UGT1A1-related disorder	GLikely benign
Select item 593170	NM_000463.3(UGT1A1):c.907G>A (p.Val303Met)	UGT1A10, UGT1A3 +8 more (V303M +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GUncertain significance
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 1613852	NM_000463.3(UGT1A1):c.990T>C (p.Pro330=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder +1 more	GLikely benign
Select item 811688	NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu)	UGT1A3, UGT1A4 +8 more (S340L +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3028950	NM_000463.3(UGT1A1):c.1038G>A (p.Ala346=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 3053921	NM_000463.3(UGT1A1):c.1047G>A (p.Thr349=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 1350364	NM_000463.3(UGT1A1):c.1071A>G (p.Gln357=)	UGT1A9, UGT1A +8 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 420162	NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)	UGT1A7, UGT1A8 +8 more (G362S +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 497628	NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val)	UGT1A8, UGT1A9 +8 more (G362V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A5, UGT1A8 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia +8 more	GConflicting classifications of pathogenicity; other
Select item 288098	NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys)	UGT1A, UGT1A1 +8 more (R367C +4 more)	Single nucleotide variant (missense variant)	Lucey-Driscoll syndrome +6 more	GUncertain significance
Select item 1490279	NM_000463.3(UGT1A1):c.1155C>T (p.Gly385=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder +1 more	GLikely benign
Select item 498022	NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)	UGT1A3, UGT1A4 +8 more (V386I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A, UGT1A1 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	Hyperbilirubinemia +2 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
Select item 596200	NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys)	UGT1A9, UGT1A +8 more (R450C +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GUncertain significance
Select item 598532	NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)	UGT1A6, UGT1A7 +8 more (R450H +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder +1 more	GUncertain significance
Select item 3032638	NM_000463.3(UGT1A1):c.1353G>A (p.Pro451=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A1-related disorder	GLikely benign
Select item 1338434	NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)	UGT1A, UGT1A1 +8 more (W193R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2203288	NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)	UGT1A, UGT1A1 +8 more (E195V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632333	NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln)	UGT1A3, UGT1A +8 more (K201Q +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 897467	NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr)	UGT1A1, UGT1A10 +8 more (A468T +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +3 more	GUncertain significance
Select item 1679465	NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val)	UGT1A10, UGT1A3 +8 more (A203V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3042221	NM_007120.3(UGT1A4):c.1425G>A (p.Leu475=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	UGT1A4-related disorder	GLikely benign
Select item 2634837	NM_000463.3(UGT1A1):c.1450T>C (p.Tyr484His)	UGT1A, UGT1A1 +8 more (Y216H +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A, UGT1A1 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +7 more	GPathogenic/Likely pathogenic
Select item 2634549	NM_000463.3(UGT1A1):c.1525T>G (p.Cys509Gly)	UGT1A, UGT1A1 +8 more (C506G +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related disorder	GUncertain significance
Select item 1481063	NM_000463.3(UGT1A1):c.1568G>A (p.Arg523Gln)	UGT1A, UGT1A1 +8 more (R255Q +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2909068	NM_000463.3(UGT1A1):c.1590C>T (p.Ser530=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 72