"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 440384	NM_019076.5(UGT1A8):c.855+63319T>G	UGT1A, UGT1A10 +2 more	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 440385	NM_019076.5(UGT1A8):c.855+63408C>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 811843	NM_019075.4(UGT1A10):c.855+44683G>A	UGT1A8, UGT1A7 +3 more (M41I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 993651	NM_019075.4(UGT1A10):c.855+44822C>T	UGT1A, UGT1A10 +3 more (R88W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 811972	NM_019075.4(UGT1A10):c.855+44828T>C	UGT1A8, UGT1A10 +3 more (F90L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2920843	NM_019076.5(UGT1A8):c.855+63716A>G	UGT1A, UGT1A10 +3 more (N114S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679510	NM_019076.5(UGT1A8):c.855+63718G>A	UGT1A, UGT1A10 +3 more (G115S)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 618470	NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr)	UGT1A, UGT1A10 +3 more (D118Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330751	NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG	UGT1A8, UGT1A9 +3 more (N129R)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 1330729	NM_019076.5(UGT1A8):c.855+63761A>G	UGT1A, UGT1A10 +3 more (N129S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 440386	NM_019076.5(UGT1A8):c.855+63762T>G	UGT1A, UGT1A10 +3 more (N129K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1333166	NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA	UGT1A, UGT1A10 +3 more (R131K)	Indel (missense variant +1 more)	not provided	GBenign
Select item 440387	NM_019076.5(UGT1A8):c.855+63766C>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 440388	NM_019076.5(UGT1A8):c.855+63767G>A	UGT1A, UGT1A10 +3 more (R131Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1330505	NM_019076.5(UGT1A8):c.855+63792G>C	UGT1A, UGT1A10 +3 more (E139D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1330921	NM_019075.4(UGT1A10):c.855+44982G>C	UGT1A, UGT1A10 +3 more (C141S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 618471	NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His)	UGT1A7, UGT1A +3 more (Y189H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 440389	NM_019076.5(UGT1A8):c.855+63997T>C	UGT1A, UGT1A10 +3 more (W208R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2428597	NM_019075.4(UGT1A10):c.855+45220C>T	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1330672	NM_019075.4(UGT1A10):c.855+45231T>C	UGT1A, UGT1A10 +3 more (F224S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920909	NM_019076.5(UGT1A8):c.855+64104T>C	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 440390	NM_019076.5(UGT1A8):c.855+64131G>A	UGT1A, UGT1A10 +3 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 618469	NM_019076.5(UGT1A8):c.855+64203C>A	UGT1A9, UGT1A7 +3 more (N276K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920849	NM_019076.5(UGT1A8):c.855+64228A>G	UGT1A, UGT1A10 +3 more (M285V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679448	NM_019075.4(UGT1A10):c.855+45414T>C	UGT1A, UGT1A10 +3 more (M285T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679437	NM_019075.4(UGT1A10):c.855+45435G>A	UGT1A8, UGT1A +3 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428588	NM_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala)	UGT1A7, UGT1A6 +4 more (S7A)	Indel (missense variant +1 more)	not provided	GLikely benign
Select item 440378	NM_019076.5(UGT1A8):c.856-74011T>G	UGT1A, UGT1A10 +4 more (S7A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 810915	NM_001072.4(UGT1A6):c.105C>T (p.Asp35=)	UGT1A, UGT1A10 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 811907	NM_001072.4(UGT1A6):c.146T>G (p.Leu49Arg)	UGT1A, UGT1A10 +4 more (L49R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330907	NM_001072.4(UGT1A6):c.159del (p.His54fs)	UGT1A, UGT1A10 +4 more (H54fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 994070	NM_001072.4(UGT1A6):c.214T>C (p.Tyr72His)	UGT1A, UGT1A10 +4 more (Y72H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 440379	NM_019076.5(UGT1A8):c.856-73715A>G	UGT1A10, UGT1A6 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 618468	NM_001072.4(UGT1A6):c.348G>C (p.Met116Ile)	UGT1A, UGT1A9 +4 more (M116I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920754	NM_019076.5(UGT1A8):c.856-73523C>T	UGT1A, UGT1A10 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 440381	NM_019076.5(UGT1A8):c.856-73489A>G	UGT1A, UGT1A10 +4 more (T181A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 440380	NM_019076.5(UGT1A8):c.856-73478A>C	UGT1A, UGT1A10 +4 more (R184S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 994217	NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn)	UGT1A, UGT1A10 +4 more (S185N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 995670	NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu)	UGT1A, UGT1A10 +4 more (P186L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 440382	NM_019076.5(UGT1A8):c.856-73403G>T	UGT1A, UGT1A10 +4 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 993713	NM_001072.4(UGT1A6):c.861+35946G>C	UGT1A, UGT1A10 +7 more (A229P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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	UGT1A, UGT1A1 +8 more	Microsatellite (intron variant)	Irinotecan response +2 more	GBenign; drug response
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 2428544	NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly)	UGT1A1, UGT1A3 +8 more (D36G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330862	NM_000463.3(UGT1A1):c.131T>A (p.Leu44His)	UGT1A7, UGT1A8 +8 more (L44H)	Single nucleotide variant (missense variant +1 more)	not provided	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)	UGT1A1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 12280	UGT1A1*6	UGT1A, UGT1A1 +8 more (G71R)	Single nucleotide variant (intron variant +1 more)	Crigler-Najjar syndrome, type II +4 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)	not provided +1 more	GPathogenic
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 +4 more	GConflicting classifications of pathogenicity
Select item 1330555	NM_000463.3(UGT1A1):c.471C>T (p.Ser157=)	UGT1A, UGT1A1 +8 more	Single nucleotide variant (synonymous variant +1 more)	UGT1A1-related condition +1 more	GLikely benign
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 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 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 1416456	NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val)	UGT1A, UGT1A1 +8 more (I215V)	Single nucleotide variant (missense variant +1 more)	not provided	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 condition +6 more	GConflicting classifications of pathogenicity; other
Select item 1409267	NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)	UGT1A, UGT1A1 +8 more (P229L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 12274	NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln)	UGT1A, UGT1A1 +8 more (P229Q)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related condition +2 more	GConflicting classifications of pathogenicity; other
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 2428647	NM_000463.3(UGT1A1):c.741A>G (p.Leu247=)	UGT1A7, UGT1A9 +8 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 160240	NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro)	UGT1A1, UGT1A10 +8 more (S250P)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 498039	NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)	UGT1A10, UGT1A3 +8 more (N279Y)	Single nucleotide variant (missense variant +1 more)	UGT1A1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 12272	NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	UGT1A, UGT1A1 +8 more (G309E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 724578	NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val)	UGT1A, UGT1A1 +8 more (I322V +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 12270	NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg)	UGT1A, UGT1A6 +8 more (Q331R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1330395	NM_000463.3(UGT1A1):c.996+1G>A	UGT1A, UGT1A1 +8 more	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 160241	NM_000463.3(UGT1A1):c.996+15T>C	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 993392	NM_000463.3(UGT1A1):c.996+18C>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811688	NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu)	UGT1A, UGT1A1 +8 more (S340L +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +1 more	GUncertain significance
Select item 1301539	NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn)	UGT1A, UGT1A1 +8 more (D356N +4 more)	Single nucleotide variant (missense variant)	Gilbert syndrome +1 more	GUncertain significance
Select item 160229	NM_000463.3(UGT1A1):c.1084+1G>T	UGT1A, UGT1A1 +8 more	Single nucleotide variant (splice donor variant)	Hyperbilirubinemia +1 more	GPathogenic/Likely pathogenic
Select item 2920967	NM_019076.5(UGT1A8):c.1075+20T>G	UGT1A, UGT1A1 +8 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 212543	NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)	UGT1A, UGT1A1 +8 more (P361L +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome type 1 +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)	Gilbert syndrome +6 more	GUncertain significance
Select item 197147	NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)	UGT1A5, UGT1A8 +8 more	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 498022	NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile)	UGT1A7, UGT1A8 +8 more (V386I +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +1 more	GUncertain significance
Select item 285286	NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu)	UGT1A10, UGT1A3 +8 more (P392L +4 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2921109	NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)	UGT1A, UGT1A1 +8 more (M403T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206193	NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)	UGT1A5, UGT1A +8 more (K139fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 160230	NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)	UGT1A, UGT1A1 +8 more (V143L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2921095	NM_019076.5(UGT1A8):c.1299C>T (p.Tyr433=)	UGT1A5, UGT1A6 +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 286999	NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys)	UGT1A, UGT1A1 +8 more (R442C +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome +6 more	GUncertain significance
Select item 598532	NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His)	UGT1A8, UGT1A9 +8 more (R450H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2203288	NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val)	UGT1A, UGT1A1 +8 more (E195V +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +1 more	GUncertain significance
Select item 1679465	NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val)	UGT1A5, UGT1A6 +8 more (A203V +4 more)	Single nucleotide variant (missense variant)	UGT1A1-related condition +1 more	GUncertain significance
Select item 160235	NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant)	Crigler-Najjar syndrome +4 more	GConflicting classifications of pathogenicity
Select item 993822	NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile)	UGT1A, UGT1A1 +8 more (T214I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12281	NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	UGT1A4, UGT1A5 +8 more (Y486D +4 more)	Single nucleotide variant (missense variant)	Crigler-Najjar syndrome, type II +7 more	GPathogenic/Likely pathogenic
Select item 597100	NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)	UGT1A4, UGT1A5 +8 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2884836	NM_000463.3(UGT1A1):c.1491C>T (p.Ala497=)	UGT1A10, UGT1A +8 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444554	NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met)	UGT1A1, UGT1A10 +8 more (V231M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920928	NM_019076.5(UGT1A8):c.1502T>A (p.Phe501Tyr)	UGT1A, UGT1A1 +8 more (F503Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330706	NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del)	UGT1A5, UGT1A4 +8 more (C242del +4 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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Items: 95