Full data view for gene UGT1A1

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

728 entries on 8 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

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RNA change     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Template     

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Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

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+/. _1 - UGT1A1*28 -54_-40TA[8] r.(=) p.(=) Both (homozygous) - benign g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A1_000109 - Journal: Appak 2022 - - Germline - 37/49 cases - - - DNA SEQ - - Gilbert syndrome patients Journal: Appak 2022 analysis 56 Gilbert syndrome cases - - Turkey - - - - - 37 Johan den Dunnen
+/. _1 - UGT1A1*28 -54_-40TA[8] r.(=) p.(=) Parent #2 - benign g.234668893_234668894dup g.233760247_233760248dup (TA)6/7 - UGT1A1_000109 - Journal: Appak 2022 - - Germline - 1/49 cases - - - DNA SEQ - - Gilbert syndrome patients Journal: Appak 2022 analysis 56 Gilbert syndrome cases - - Turkey - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 combined serum bilurubin level 32 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 110 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 combined serum bilurubin level 61 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 4 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 no variant 2nd chromosome; combined serum bilurubin level 48 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 combined serum bilurubin level 39 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 combined serum bilurubin level 60 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 unknown variant 2nd chromosome; combined serum bilurubin level 47 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 3 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup [TA]7 - UGT1A4_000105 combined serum bilurubin level 108 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar - PubMed: Costa 2006 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*37 r.(=|<1) p.(=|<1) Parent #2 - pathogenic (recessive) g.234668891_234668894dup g.233760245_233760248dup [TA]8 - UGT1A1_000110 combined serum bilurubin level 60 umol/l PubMed: Costa 2006 - - Germline - - - - - DNA SEQ - - Gilbert syndrome - PubMed: Costa 2006 analysis 110 cases Gilbert syndrome - - Portugal - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup (TA)7TAA - UGT1A1_000110 combination of variants not reported; 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 3.46 mg/dL PubMed: Farheen 2006 - - Germline - 15/95 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome - PubMed: Farheen 2006 analysis 95 cases Gilbert syndrome - - India - - - - - 15 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - VUS (!) g.234668893_234668894dup g.233760247_233760248dup (TA)7TAA - UGT1A1_000110 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 3.31 mg/dL PubMed: Farheen 2006 - - Germline - 76/95 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome - PubMed: Farheen 2006 analysis 95 cases Gilbert syndrome - - India - - - - - 76 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - VUS (!) g.234668893_234668894dup g.233760247_233760248dup (TA)7TAA - UGT1A1_000110 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 0.64 mg/dL PubMed: Farheen 2006 - - Germline - 10/95 cases Gilbert syndrome - - - DNA SEQ - - Healthy/Control - PubMed: Farheen 2006 analysis 96 controls - - India - - - - - 10 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - VUS (!) g.234668893_234668894dup g.233760247_233760248dup (TA)7TAA - UGT1A1_000110 combination of variants not reported; 2-fold decreased promoter activity in luciferase reporter assay; un-conjugated bilirubin 0.59 mg/dL PubMed: Farheen 2006 - - Germline - 53/95 cases Gilbert syndrome - - - DNA SEQ - - Healthy/Control - PubMed: Farheen 2006 analysis 96 controls - - India - - - - - 53 Johan den Dunnen
+/. - - UGT1A1*74 r.(?) p.(=) Unknown - likely benign g.234665593del g.233756947del -3345delC (c.-3341delC) - UGT1A1_000109 - PubMed: Sai 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*60 r.(=|<1) r.(=|<1) Unknown - association g.234665659T>G g.233757013T>G -3279T>G (c.-3275T>G) - UGT1A1_000109 associated with reduced transcription/increased plasma bilirubin levels (Japan); linked with -3156G>A, -364C>T, -40_-39insTA PubMed: Sai 2004 - - Germline - 0.262 - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*91 r.(?) p.(=) Unknown - likely benign g.234665761C>G g.233757115C>G -3177C>G (c.-3173C>G) - UGT1A1_000109 linked with -3175A>G, -64G>C PubMed: Sai 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*92 r.(?) p.(=) Unknown - likely benign g.234665763A>G g.233757117A>G -3175A>G (c.-3171A>G) - UGT1A1_000109 linked with -3177C>G, -64G>C PubMed: Sai 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*93 r.(?) p.(=) Unknown - likely benign g.234665782G>A g.233757136G>A -3156G>A (c.-3152G>A) - UGT1A1_000109 linked with -3279T>G, -364C>T, -40_-39insTA PubMed: Sai 2004 - - Germline - - - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*60, Hap-I r.(=|<1) p.(=|<1) Parent #1 - association g.234665659G>T g.233757013G>T -3279G>T (c.-3275G>T) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-I PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*60, Hap-I r.(=|<1) p.(=|<1) Parent #1 - association g.234665659G>T g.233757013G>T -3280G>T (c.-3275G>T) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-I PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*89, Hap-III r.(=) p.(=) Parent #1 - likely benign g.234665498C>A g.233756852C>A -3440C>A (c.-3436C>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-III PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*89, Hap-III r.(=) p.(=) Parent #1 - likely benign g.234665498C>A g.233756852C>A -3440C>A (c.-3436C>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-III PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*90, Hap-IV r.(=) p.(=) Parent #1 - likely benign g.234665537T>C g.233756891T>C -3401T>C c.-3397T>C) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-IV PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*93, Hap-V r.(=) p.(=) Parent #1 - likely benign g.234665761C>G g.233757115C>G -3156G>A (c.-3152G>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-V PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28, Hap-VI r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup (TA)7 - UGT1A4_000105 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VI PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28, Hap-VI r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup (TA)7 - UGT1A4_000105 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VI PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28, Hap-VII r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup (TA)7 - UGT1A4_000105 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28, Hap-VII r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup (TA)7 - UGT1A4_000105 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*91, Hap-VIII r.(=) p.(=) Parent #1 - likely benign g.234665498C>A g.233756852C>A -3177C>G (c.-3173C>G) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VIII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*37, Hap-IX r.(=|<1) p.(=|<1) Parent #1 - association g.234668891_234668894dup g.233760245_233760248dup (TA)8 - UGT1A1_000110 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-IX PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*36, Hap-X r.(=|>1) p.(=|>1) Parent #1 - association g.234668893_234668894del g.233760247_233760248del (TA)5 - UGT1A1_000112 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-X PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*37, Hap-IX r.(=|<1) p.(=|<1) Parent #1 - association g.234668891_234668894dup g.233760245_233760248dup (TA)8 - UGT1A1_000110 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-IX PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
+/. - - UGT1A1*36, Hap-X r.(=|>1) p.(=|>1) Parent #1 - association g.234668893_234668894del g.233760247_233760248del (TA)5 - UGT1A1_000112 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-X PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*93, Hap-V r.(=) p.(=) Parent #1 - likely benign g.234665761C>G g.233757115C>G -3156G>A (c.-3152G>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VI PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*93, Hap-VI r.(=) p.(=) Parent #1 - likely benign g.234665761C>G g.233757115C>G -3156G>A (c.-3152G>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VI PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States white - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*92, Hap-VII r.(=) p.(=) Parent #1 - likely benign g.234665537T>C g.233756891T>C -3175A>G (c.-3171A>G) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VIII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
-?/. - - UGT1A1*93, Hap-VII r.(=) p.(=) Parent #1 - likely benign g.234665761C>G g.233757115C>G -3156G>A (c.-3152G>A) - UGT1A1_000109 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VIII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28, Hap-VII r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup (TA)7 - UGT1A4_000105 - PubMed: Innocenti 2002 - - Germline - - - - - DNA SEQ liver - Healthy/Control Hap-VIII PubMed: Innocenti 2002 haplotype analysis UGT1A1 promoter 83 control individuals - - United States African American - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-1 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-5 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-6 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-7 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-8 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-9 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-10 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-11 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-12 PubMed: Servedio 2005 - - yes Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN1-14 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-1 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-2 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-3 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-4 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-5 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-7 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-10 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-11 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-12 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-13 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-14 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-15 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA(7) - UGT1A4_000105 - PubMed: Servedio 2005 - - Germline - - - - - DNA SEQ - - Crigler-Najjar PatCN2-16 PubMed: Servedio 2005 - - no Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Unknown - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat2 PubMed: Petit 2006 - - - France - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Unknown - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat3 PubMed: Petit 2006 - - - France - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Unknown - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat4 PubMed: Petit 2006 - - - France - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Unknown - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat6 PubMed: Petit 2006 - - - France - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat8 PubMed: Petit 2006 - - - Tunisia - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat9 PubMed: Petit 2006 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat19 PubMed: Sneitz 2010 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat9 PubMed: Sneitz 2010 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat10 PubMed: Sneitz 2010 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat11 PubMed: Sneitz 2010 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat15 PubMed: Sneitz 2010 2-generation family, 2 affecteds M - Netherlands - - - - - 2 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat16 PubMed: Sneitz 2010 relative M - Netherlands - - - - - 1 Johan den Dunnen
+/. - - - r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup TA7 - UGT1A4_000105 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat17 PubMed: Sneitz 2010 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat1 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat2 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat3 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat5 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat8 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. - - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #2 - association g.234668893_234668894dup g.233760247_233760248dup - - UGT1A4_000105 - PubMed: D'Apolito 2007 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat9 PubMed: D'Apolito 2007 - - - Italy - - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore Malaysia - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore China - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+?/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Parent #1 - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore Malaysia - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
+/. _1 - UGT1A1*28 r.(=|<1) p.(=|<1) Both (homozygous) - association g.234668893_234668894dup g.233760247_233760248dup A(TA)7TAA - UGT1A4_000105 - PubMed: Zhou 2009 - - Germline - - - - - DNA SEQ - - Healthy/Control - PubMed: Zhou 2009 analysis 241 newborns, individuals with 2 UGT1A1 variants - - Singapore India - - - - 1 Johan den Dunnen
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