All transcript variants in gene UGT1A1

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

69 entries on 1 page. Showing entries 1 - 69.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
?/. - c.-123006C>T VUS r.(?) p.(=) g.234545928C>T - UGT1A10(NM_019075.2):c.760C>T (p.(Arg254Ter)) - UGT1A8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-122936G>A VUS r.(?) p.(=) g.234545998G>A - UGT1A10(NM_019075.2):c.830G>A (p.(Cys277Tyr)) - UGT1A8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-67124C>G VUS r.(?) p.(=) g.234601810C>G - UGT1A6(NM_001072.3):c.160C>G (p.H54D) - UGT1A6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
./. 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 - - - 0 - Giulia Canu
+/+ 1 c.44T>G - r.(?) p.(Leu15Arg) g.234668977T>G g.233760331T>G - - UGT1A1_000003 Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al.1996 - rs111033541 Germline - - - 0 - Giulia Canu
+/. - c.44T>G pathogenic r.(?) p.(Leu15Arg) g.234668977T>G - UGT1A1(NM_000463.2):c.44T>G (p.L15R) - UGT1A1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.85A>T pathogenic r.(?) p.(Lys29*) g.234669018A>T - UGT1A1(NM_000463.2):c.85A>T (p.K29*) - UGT1A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.101C>A - r.(?) p.(Pro34Gln) g.234669034C>A g.233760388C>A - - UGT1A1_000004 Compund heterozygote for c.1207 C>T. Phenotype: Crigler Najjar Syndrome type II and 6TA/6TA in the promoter PubMed: Servedio V et al.2005 - - Germline - - - 0 - Giulia Canu
+?/+? 1 c.115C>G - r.(?) p.(His39Asp) g.234669048C>G g.233760402C>G - - UGT1A1_000005 Phenotype: Crigler Najjar Syndrome type I PubMed: Kadakol A et al. 2000 - rs7255339 Germline - - - 0 - Giulia Canu
?/? 1 c.118T>C - r.(?) p.(Trp40Arg) g.234669051T>C g.233760405T>C - - UGT1A1_000006 Compound heterozygote for c.1304 +1 G>T and 6TA/7TA in the promoter Phenotype: Crgler Najjar Syndrome type II PubMed: Petit F et al. 2006 - - Germline - - - 0 - Giulia Canu
+/. - c.145C>T pathogenic r.(?) p.(Gln49*) g.234669078C>T - UGT1A1(NM_000463.2):c.145C>T (p.Q49*) - UGT1A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.182C>G VUS r.(?) p.(Ala61Gly) g.234669115C>G - UGT1A1(NM_000463.2):c.182C>G (p.(Ala61Gly)) - chr2_013503 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.189C>T benign r.(?) p.(=) g.234669122C>T - UGT1A1(NM_000463.2):c.189C>T (p.=) - UGT1A1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.211G>A - r.(?) p.(Gly71Arg) g.234669144G>A g.233760498G>A - - UGT1A1_000001 6TA/6TA in the promoter. Phenotype : Crigler Najjar Syndrome type II PubMed: Aono S et al. 1993 - rs4148323 Germline - - - 0 - Giulia Canu
+?/. - c.211G>A likely pathogenic r.(?) p.(Gly71Arg) g.234669144G>A - UGT1A1(NM_000463.2):c.211G>A (p.(Gly71Arg)) - UGT1A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.222C>A pathogenic r.(?) p.(Tyr74*) g.234669155C>A - UGT1A1(NM_000463.2):c.222C>A (p.(Tyr74*)) - UGT1A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.222C>A pathogenic r.(?) p.(Tyr74*) g.234669155C>A - UGT1A1(NM_000463.2):c.222C>A (p.(Tyr74*)) - UGT1A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 1 c.233C>T - r.(?) p.(Thr78Met) g.234669166C>T g.233760520C>T - - UGT1A1_000007 Phenotype: Normal PubMed: Yea SS et al. 2008 - - Unknown - - - 0 - Giulia Canu
+/+ 1 c.247T>C - r.(?) p.(Phe83Leu) 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 - - - 0 - Giulia Canu
-?/. - c.285C>T likely benign r.(?) p.(=) g.234669218C>T - UGT1A1(NM_000463.2):c.285C>T (p.(Leu95=)) - chr2_013504 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.322C>T VUS r.(?) p.(Arg108Cys) g.234669255C>T - UGT1A1(NM_000463.2):c.322C>T (p.(Arg108Cys)) - chr2_013505 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.470del pathogenic r.(?) p.(Ser157Thrfs*48) g.234669403del - UGT1A1(NM_000463.2):c.470delG (p.S157Tfs*48) - UGT1A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.470G>A VUS r.(?) p.(Ser157Asn) g.234669403G>A - UGT1A1(NM_000463.2):c.470G>A (p.(Ser157Asn)) - chr2_013506 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.477C>A likely benign r.(?) p.(=) g.234669410C>A - UGT1A1(NM_000463.2):c.477C>A (p.(Ile159Ile)) - chr2_013507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/+ 1 c.524T>A - r.(?) p.(Leu175Gln) g.234669457T>A g.233760811T>A - - UGT1A1_000011 Phenotype: Crigler Najjar Syndrome type II PubMed: Seppen J et al. 1994 - rs72551341 Germline - - - 0 - Giulia Canu
+/+ 1 c.529T>C - r.(?) p.(Cys177Arg) 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 - - - 0 - Giulia Canu
-/. - c.540A>G benign r.(?) p.(=) g.234669473A>G - UGT1A1(NM_000463.2):c.540A>G (p.=) - UGT1A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.572C>T VUS r.(?) p.(Ser191Phe) g.234669505C>T - UGT1A1(NM_000463.2):c.572C>T (p.S191F) - UGT1A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.576C>A pathogenic r.(?) p.(Tyr192*) g.234669509C>A - UGT1A1(NM_000463.2):c.576C>A (p.Y192*) - UGT1A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.625C>T - r.(?) p.(Arg209Trp) g.234669558C>T g.233760912C>T - - UGT1A1_000012 Phenotype: Crigler Najjar Syndrome type II PubMed: Bosma PJ et al. 1994 - rs72551343 Germline - - - 0 - Giulia Canu
+/. - c.625C>T pathogenic r.(?) p.(Arg209Trp) g.234669558C>T - UGT1A1(NM_000463.2):c.625C>T (p.R209W) - UGT1A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/-? 1 c.643A>G - r.(?) p.(Ile215Val) 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 - - - 0 - Giulia Canu
+/+ 1 c.674T>G - r.(?) p.(Val225Gly) g.234669607T>G g.233760961T>G - - UGT1A1_000010 Compound heterozygote for c.722_723delAG and 7TA/7TA in the promoter. Phenotype: Crigler Najjar Syndrome type II PubMed: Iolascon A et al. 2000 - rs35003977 Germline - - - 0 - Giulia Canu
+/. - c.674T>G pathogenic r.(?) p.(Val225Gly) g.234669607T>G - UGT1A1(NM_000463.2):c.674T>G (p.Val225Gly) - UGT1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.674T>G likely pathogenic r.(?) p.(Val225Gly) g.234669607T>G - UGT1A1(NM_000463.2):c.674T>G (p.Val225Gly) - UGT1A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 1 c.686C>A - r.(?) p.(Pro229Gln) 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 - - - 0 - Giulia Canu
+/. - c.808_816del pathogenic r.(?) p.(Pro270_Met272del) g.234669741_234669749del - UGT1A1(NM_000463.2):c.808_816delCCCAATATG (p.P270_M272del) - UGT1A1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.822del likely pathogenic r.(?) p.(Phe274Leufs*92) g.234669755del - UGT1A1(NM_000463.2):c.822delT (p.F274Lfs*92) - UGT1A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/+ 1 c.826G>T - r.(?) p.(Gly276Cys) g.234669759G>T g.233761113G>T - - UGT1A1_000015 Phenotype: Crigler Najjar Syndrome type I. PubMed: Seppen J et al.1994 - rs72551345 Germline - - - 0 - Giulia Canu
+/. - c.835A>T pathogenic r.(?) p.(Asn279Tyr) g.234669768A>T - UGT1A1(NM_000463.2):c.835A>T (p.N279Y) - UGT1A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.839del pathogenic r.(?) p.(Cys280Serfs*86) g.234669772del - UGT1A1(NM_000463.2):c.839delG (p.C280Sfs*86) - UGT1A1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.840C>A pathogenic r.(?) p.(Cys280*) g.234669773C>A - UGT1A1(NM_000463.2):c.840C>A (p.C280*) - chr2_013508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.877_891delinsA pathogenic r.(?) p.(Tyr293Argfs*27) g.234675692_234675706delinsA - UGT1A1(NM_000463.2):c.877_891delTACATTAATGCTTCTinsA (p.Y293Rfs*27) - UGT1A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.923G>A pathogenic r.(?) p.(Gly308Glu) g.234675738G>A - UGT1A1(NM_000463.2):c.923G>A (p.G308E) - UGT1A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.964A>G VUS r.(?) p.(Ile322Val) g.234675779A>G - UGT1A1(NM_000463.2):c.964A>G (p.(Ile322Val)) - UGT1A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.996+15T>C benign r.(=) p.(=) g.234675826T>C - UGT1A1(NM_000463.2):c.996+15T>C - UGT1A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.996+18C>T benign r.(=) p.(=) g.234675829C>T - UGT1A1(NM_000463.2):c.996+18C>T - UGT1A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.997-100_997-99insGT benign r.(=) p.(=) g.234676395_234676396insGT - UGT1A1(NM_000463.2):c.997-100_997-99insGT - chr2_013509 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1005G>A pathogenic r.(?) p.(Trp335*) g.234676503G>A - UGT1A1(NM_000463.2):c.1005G>A (p.W335*) - UGT1A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1006C>T pathogenic r.(?) p.(Arg336Trp) g.234676504C>T - UGT1A1(NM_000463.2):c.1006C>T (p.R336W) - UGT1A1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1007_1010dup pathogenic r.(?) p.(Tyr337*) g.234676505_234676508dup - UGT1A1(NM_000463.2):c.1007_1010dupGGTA (p.Y337*) - chr2_013510 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.1070A>G pathogenic r.(?) p.(Gln357Arg) g.234676568A>G - UGT1A1(NM_000463.2):c.1070A>G (p.Q357R) - UGT1A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1091C>T likely pathogenic r.(?) p.(Pro364Leu) g.234676872C>T - UGT1A1(NM_000463.2):c.1091C>T (p.P364L) - UGT1A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1122T>C likely benign r.(?) p.(=) g.234676903T>C - UGT1A1(NM_000463.2):c.1122T>C (p.G374=) - UGT1A1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1145_1150del likely pathogenic r.(?) p.(Ile382_Cys383del) g.234676926_234676931del - UGT1A1(NM_000463.2):c.1145_1150delTATGCA (p.I382_C383del) - UGT1A1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1148G>A VUS r.(?) p.(Cys383Tyr) g.234676929G>A - UGT1A6(NM_001072.3):c.1145G>A (p.C382Y) - UGT1A1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1149C>T likely benign r.(?) p.(=) g.234676930C>T - UGT1A6(NM_001072.3):c.1146C>T (p.=) - UGT1A1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1160C>A pathogenic r.(?) p.(Pro387His) g.234676941C>A - UGT1A1(NM_000463.2):c.1160C>A (p.P387H) - UGT1A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1205A>C pathogenic r.(?) p.(Lys402Thr) g.234676986A>C - UGT1A1(NM_000463.2):c.1205A>C (p.K402T) - UGT1A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1207C>T VUS r.(?) p.(Arg403Cys) g.234676988C>T - UGT1A1(NM_000463.2):c.1207C>T (p.R403C) - UGT1A1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1220del pathogenic r.(?) p.(Lys407Argfs*5) g.234677001del - 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 - - - 0 - VKGL-NL_Rotterdam
+/. - c.1220del pathogenic r.(?) p.(Lys407Argfs*5) g.234677001del - 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_Leiden
+/. - c.1304+1G>T pathogenic r.spl? p.? g.234677086G>T - UGT1A1(NM_000463.2):c.1304+1G>T - UGT1A1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1348C>T VUS r.(?) p.(Arg450Cys) g.234680951C>T - UGT1A1(NM_000463.2):c.1348C>T (p.R450C) - UGT1A1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.1429G>A VUS r.(?) p.(Ala477Thr) g.234681032G>A - UGT1A1(NM_000463.2):c.1429G>A (p.A477T) - UGT1A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1456T>G pathogenic r.(?) p.(Tyr486Asp) g.234681059T>G - UGT1A1(NM_000463.2):c.1456T>G (p.Y486D) - UGT1A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1489del pathogenic r.(?) p.(Ala497Profs*4) g.234681092del - UGT1A1(NM_000463.2):c.1489delG (p.A497Pfs*4) - UGT1A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1495G>A likely benign r.(?) p.(Val499Met) g.234681098G>A - UGT1A1(NM_000463.2):c.1495G>A (p.V499M) - UGT1A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1567C>T likely pathogenic r.(?) p.(Arg523*) g.234681170C>T - UGT1A1(NM_000463.2):c.1567C>T (p.R523*) - UGT1A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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