Unique variants in gene UGT1A1

Information The variants shown are described using the NM_000463.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-123006C>T r.(?) p.(=) - VUS g.234545928C>T g.233637282C>T UGT1A10(NM_019075.2):c.760C>T (p.(Arg254Ter)) - UGT1A8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-122936G>A r.(?) p.(=) - VUS g.234545998G>A g.233637352G>A UGT1A10(NM_019075.2):c.830G>A (p.(Cys277Tyr)) - UGT1A8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-67124C>G r.(?) p.(=) - VUS g.234601810C>G g.233693164C>G UGT1A6(NM_001072.3):c.160C>G (p.H54D) - UGT1A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-41266C>T r.(?) p.(=) - likely benign g.234627668C>T g.233719022C>T UGT1A4(NM_007120.2):c.202C>T (p.H68Y) - UGT1A1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 1 c.1A>G r.(?) p.(Met1Val) - - g.234668934A>G g.233760288A>G - - UGT1A1_000002 Phenotype: Crigler Najjar Syndrome type II and 6TA/6TA in the promoter PubMed: Petit et al. 2006 - - Germline - - - - - Giulia Canu
+/., +/+ 2 1 c.44T>G r.(?) p.(Leu15Arg) - pathogenic g.234668977T>G g.233760331T>G UGT1A1(NM_000463.2):c.44T>G (p.L15R) - UGT1A1_000003 VKGL data sharing initiative Nederland, Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al.1996 - rs111033541 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Giulia Canu
+/. 1 - c.85A>T r.(?) p.(Lys29*) - pathogenic g.234669018A>T g.233760372A>T UGT1A1(NM_000463.2):c.85A>T (p.K29*) - UGT1A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.101C>A r.(?) p.(Pro34Gln) - pathogenic g.234669034C>A g.233760388C>A - - UGT1A1_000004 1 more item PubMed: Servedio V et al.2005 - - Germline - - - - - Giulia Canu
+?/+? 1 1 c.115C>G r.(?) p.(His39Asp) - likely pathogenic g.234669048C>G g.233760402C>G - - UGT1A1_000005 Phenotype: Crigler Najjar Syndrome type I PubMed: Kadakol A et al. 2000 - rs7255339 Germline - - - - - Giulia Canu
?/? 1 1 c.118T>C r.(?) p.(Trp40Arg) - VUS g.234669051T>C g.233760405T>C - - UGT1A1_000006 1 more item PubMed: Petit F et al. 2006 - - Germline - - - - - Giulia Canu
+/. 1 - c.145C>T r.(?) p.(Gln49*) - pathogenic g.234669078C>T g.233760432C>T UGT1A1(NM_000463.2):c.145C>T (p.Q49*) - UGT1A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.182C>G r.(?) p.(Ala61Gly) - VUS g.234669115C>G g.233760469C>G - - UGT1A1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.189C>T r.(?) p.(=) - benign g.234669122C>T g.233760476C>T UGT1A1(NM_000463.2):c.189C>T (p.D63=) - UGT1A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/., +/+, +?/. 4 1 c.211G>A r.(?) p.(Gly71Arg) - VUS, likely pathogenic g.234669144G>A g.233760498G>A - - UGT1A1_000001 drug response; 191 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 2 more items Faruq 2020, submtted, PubMed: Aono S et al. 1993 - rs4148323 Germline, CLASSIFICATION record - 191/2794 individuals, 19/2794 individuals - - - Mohammed Faruq, Giulia Canu, VKGL-NL_Nijmegen
+/. 2 - c.222C>A r.(?) p.(Tyr74*) - pathogenic g.234669155C>A g.233760509C>A UGT1A1(NM_000463.2):c.222C>A (p.Y74*) - UGT1A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/- 1 1 c.233C>T r.(?) p.(Thr78Met) - benign g.234669166C>T g.233760520C>T - - UGT1A1_000007 Phenotype: Normal PubMed: Yea SS et al. 2008 - - Unknown - - - - - Giulia Canu
+/+ 1 1 c.247T>C r.(?) p.(Phe83Leu) - pathogenic g.234669180T>C g.233760534T>C - - UGT1A1_000008 6TA/6TA in the promoter. Phenotype: Gilbert's Syndrome PubMed: Sutomo R et al. 2002 - rs5605993 Germline - - - - - Giulia Canu
-?/. 1 - c.285C>T r.(?) p.(=) - likely benign g.234669218C>T g.233760572C>T - - UGT1A1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.470del r.(?) p.(Ser157Thrfs*48) - pathogenic g.234669403del g.233760757del UGT1A1(NM_000463.2):c.470delG (p.S157Tfs*48) - UGT1A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.470G>A r.(?) p.(Ser157Asn) - VUS g.234669403G>A g.233760757G>A - - UGT1A1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.477C>A r.(?) p.(=) - likely benign g.234669410C>A g.233760764C>A - - UGT1A1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 1 c.524T>A r.(?) p.(Leu175Gln) - pathogenic g.234669457T>A g.233760811T>A - - UGT1A1_000011 Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al. 1994 - rs72551341 Germline - - - - - Giulia Canu
+/+ 1 1 c.529T>C r.(?) p.(Cys177Arg) - pathogenic g.234669462T>C g.233760816T>C - - UGT1A1_000009 Compound heterozygote for other mutation. Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al. 1994 - rs7255342 Germline - - - - - Giulia Canu
-/. 1 - c.540A>G r.(?) p.(=) - benign g.234669473A>G g.233760827A>G UGT1A1(NM_000463.2):c.540A>G (p.E180=) - UGT1A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.572C>T r.(?) p.(Ser191Phe) - VUS g.234669505C>T g.233760859C>T UGT1A1(NM_000463.2):c.572C>T (p.S191F) - UGT1A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.576C>A r.(?) p.(Tyr192*) - pathogenic g.234669509C>A g.233760863C>A UGT1A1(NM_000463.2):c.576C>A (p.Y192*) - UGT1A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +/+ 2 1 c.625C>T r.(?) p.(Arg209Trp) - pathogenic g.234669558C>T g.233760912C>T UGT1A1(NM_000463.2):c.625C>T (p.R209W) - UGT1A1_000012 VKGL data sharing initiative Nederland, Phenotype: Crigler Najjar Syndrome type II PubMed: Bosma PJ et al. 1994 - rs72551343 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Giulia Canu
-?/-? 1 1 c.643A>G r.(?) p.(Ile215Val) - likely benign g.234669576A>G g.233760930A>G - - UGT1A1_000013 Compound heterozygote for c.-3279 T>G and 6TA/7TA in the promoter. Phenotype: Normal. PubMed: Rodrigues C et al. 2012 - rs144398951 Germline - - - - - Giulia Canu
+/+, +/., +?/. 3 1 c.674T>G r.(?) p.(Val225Gly) - pathogenic, likely pathogenic g.234669607T>G g.233760961T>G UGT1A1(NM_000463.2):c.674T>G (p.V225G) - UGT1A1_000010 VKGL data sharing initiative Nederland, 1 more item PubMed: Iolascon A et al. 2000 - rs35003977 Germline, CLASSIFICATION record - - - - - Giulia Canu, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 1 1 c.686C>A r.(?) p.(Pro229Gln) - pathogenic g.234669619C>A g.233760973C>A - - UGT1A1_000014 7TA/7TA in the promoter. Phenotype: Gilbert's Syndrome. PubMed: Koiwai O et al.1995 - rs35350960 Germline - - - - - Giulia Canu
+/. 1 - c.808_816del r.(?) p.(Pro270_Met272del) - pathogenic g.234669741_234669749del g.233761095_233761103del UGT1A1(NM_000463.2):c.808_816delCCCAATATG (p.P270_M272del) - UGT1A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.822del r.(?) p.(Phe274Leufs*92) - likely pathogenic g.234669755del g.233761109del UGT1A1(NM_000463.2):c.822delT (p.F274Lfs*92) - UGT1A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 1 c.826G>T r.(?) p.(Gly276Cys) - pathogenic g.234669759G>T g.233761113G>T - - UGT1A1_000015 Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al.1994 - rs72551345 Germline - - - - - Giulia Canu
+/. 1 - c.835A>T r.(?) p.(Asn279Tyr) - pathogenic g.234669768A>T g.233761122A>T UGT1A1(NM_000463.2):c.835A>T (p.N279Y) - UGT1A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.839del r.(?) p.(Cys280Serfs*86) - pathogenic g.234669772del g.233761126del UGT1A1(NM_000463.2):c.839delG (p.C280Sfs*86) - UGT1A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.840C>A r.(?) p.(Cys280*) - pathogenic g.234669773C>A g.233761127C>A UGT1A1(NM_000463.2):c.840C>A (p.C280*) - UGT1A1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.877_891delinsA r.(?) p.(Tyr293Argfs*27) - pathogenic g.234675692_234675706delinsA g.233767046_233767060delinsA UGT1A1(NM_000463.2):c.877_891delTACATTAATGCTTCTinsA (p.Y293Rfs*27) - UGT1A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.923G>A r.(?) p.(Gly308Glu) - pathogenic g.234675738G>A g.233767092G>A UGT1A1(NM_000463.2):c.923G>A (p.G308E) - UGT1A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.964A>G r.(?) p.(Ile322Val) - VUS g.234675779A>G g.233767133A>G UGT1A1(NM_000463.2):c.964A>G (p.(Ile322Val)) - UGT1A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.996+15T>C r.(=) p.(=) - benign g.234675826T>C g.233767180T>C UGT1A1(NM_000463.2):c.996+15T>C - UGT1A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.996+18C>T r.(=) p.(=) - benign g.234675829C>T g.233767183C>T UGT1A1(NM_000463.2):c.996+18C>T - UGT1A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.997-100_997-99insGT r.(=) p.(=) - benign g.234676395_234676396insGT g.233767749_233767750insGT UGT1A1(NM_000463.2):c.997-100_997-99insGT - UGT1A1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1005G>A r.(?) p.(Trp335*) - pathogenic g.234676503G>A g.233767857G>A UGT1A1(NM_000463.2):c.1005G>A (p.W335*) - UGT1A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1006C>T r.(?) p.(Arg336Trp) - pathogenic g.234676504C>T g.233767858C>T UGT1A1(NM_000463.2):c.1006C>T (p.R336W) - UGT1A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1007_1010dup r.(?) p.(Tyr337*) - pathogenic g.234676505_234676508dup g.233767859_233767862dup UGT1A1(NM_000463.2):c.1007_1010dupGGTA (p.Y337*) - UGT1A1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1070A>G r.(?) p.(Gln357Arg) - pathogenic g.234676568A>G g.233767922A>G UGT1A1(NM_000463.2):c.1070A>G (p.Q357R) - UGT1A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1084+1G>T - p.? - pathogenic g.234676583G>T g.233767937G>T - - UGT1A1_000063 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs587784535 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 3 - c.1091C>T r.(?) p.(Pro364Leu) - likely pathogenic g.234676872C>T g.233768226C>T UGT1A1(NM_000463.2):c.1091C>T (p.P364L) - UGT1A1_000036 40 heterozygous; Clinindb (India), VKGL data sharing initiative Nederland, 1 more item Faruq 2020, submtted - rs34946978 Germline, CLASSIFICATION record - 40/2795 individuals, 4/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam
-?/. 1 - c.1122T>C r.(?) p.(=) - likely benign g.234676903T>C g.233768257T>C UGT1A1(NM_000463.2):c.1122T>C (p.G374=) - UGT1A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1145_1150del r.(?) p.(Ile382_Cys383del) - likely pathogenic g.234676926_234676931del g.233768280_233768285del UGT1A1(NM_000463.2):c.1145_1150delTATGCA (p.I382_C383del) - UGT1A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1148G>A r.(?) p.(Cys383Tyr) - VUS g.234676929G>A g.233768283G>A UGT1A6(NM_001072.3):c.1145G>A (p.C382Y) - UGT1A1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1149C>T r.(?) p.(=) - likely benign g.234676930C>T g.233768284C>T UGT1A6(NM_001072.3):c.1146C>T (p.C382=) - UGT1A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1160C>A r.(?) p.(Pro387His) - pathogenic g.234676941C>A g.233768295C>A UGT1A1(NM_000463.2):c.1160C>A (p.P387H) - UGT1A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1205A>C r.(?) p.(Lys402Thr) - pathogenic g.234676986A>C g.233768340A>C UGT1A1(NM_000463.2):c.1205A>C (p.K402T) - UGT1A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1207C>T r.(?) p.(Arg403Cys) - VUS g.234676988C>T g.233768342C>T UGT1A1(NM_000463.2):c.1207C>T (p.R403C) - UGT1A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1220del r.(?) p.(Lys407Argfs*5) - pathogenic g.234677001del g.233768355del UGT1A1(NM_000463.2):c.1219delA (p.(Lys407ArgfsTer5)), UGT1A1(NM_000463.2):c.1220delA (p.K407Rfs*5) - UGT1A1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 - c.1304+1G>T r.spl? p.? - pathogenic g.234677086G>T g.233768440G>T UGT1A1(NM_000463.2):c.1304+1G>T - UGT1A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1343A>G r.(?) p.(Lys448Arg) - likely benign g.234680946A>G g.233772300A>G UGT1A1(NM_000463.2):c.1343A>G (p.K448R) - UGT1A1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1348C>T r.(?) p.(Arg450Cys) - VUS g.234680951C>T g.233772305C>T UGT1A1(NM_000463.2):c.1348C>T (p.R450C) - UGT1A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1429G>A r.(?) p.(Ala477Thr) - VUS g.234681032G>A g.233772386G>A UGT1A1(NM_000463.2):c.1429G>A (p.A477T) - UGT1A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., +/. 2 - c.1456T>G r.(?) p.(Tyr486Asp) - likely pathogenic, pathogenic g.234681059T>G g.233772413T>G UGT1A1(NM_000463.2):c.1456T>G (p.Y486D) - UGT1A1_000048 8 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs34993780 Germline, CLASSIFICATION record - 8/2794 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam
+/. 1 - c.1489del r.(?) p.(Ala497Profs*4) - pathogenic g.234681092del g.233772446del UGT1A1(NM_000463.2):c.1489delG (p.A497Pfs*4) - UGT1A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1495G>A r.(?) p.(Val499Met) - likely benign g.234681098G>A g.233772452G>A UGT1A1(NM_000463.2):c.1495G>A (p.V499M) - UGT1A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1567C>T r.(?) p.(Arg523*) - likely pathogenic g.234681170C>T g.233772524C>T UGT1A1(NM_000463.2):c.1567C>T (p.R523*) - UGT1A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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