Full data view for 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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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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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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Template     

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Disease     

ID_report     

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+/+ 1 c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 Crigler Najjar Syndrome type II - - rs4148323 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A - r.(?) p.(Gly71Arg) Unknown - VUS g.234669144G>A g.233760498G>A UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R) - UGT1A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - VUS g.234669144G>A g.233760498G>A - - UGT1A1_000001 drug response; 191 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148323 Germline - 191/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 191 Mohammed Faruq
?/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - VUS g.234669144G>A g.233760498G>A - - UGT1A1_000001 drug response; 19 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs4148323 Germline - 19/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
+/. - c.211G>A - r.(?) p.(Gly71Arg) Unknown - pathogenic g.234669144G>A - UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R) - UGT1A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic (dominant) g.234669144G>A - - - UGT1A1_000001 - PubMed: Koiwai 1995 - - Germline/De novo (untested) - - - - - DNA SEQ - - Gilbert syndrome PatHS PubMed: Koiwai 1995 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic (dominant) g.234669144G>A - - - UGT1A1_000001 UGT activity 0.14 PubMed: Koiwai 1995 - - Germline/De novo (untested) - - - - - DNA SEQ - - Gilbert syndrome PatSY PubMed: Koiwai 1995 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Yamamoto 1998 - - Germline yes - - - - DNA SEQ - - Crigler-Najjar Pat2 PubMed: Yamamoto 1998 2-generation family, 3 affected sisters F yes Japan - - - - - 3 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Yamamoto 1998 - - Germline yes - - - - DNA SEQ - - Crigler-Najjar FamPat3 PubMed: Yamamoto 1998 sister F yes Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Yamamoto 1998 - - Germline yes - - - - DNA SEQ - - Crigler-Najjar FamPat4 PubMed: Yamamoto 1998 sister F yes Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Yamamoto 1998 - - Germline yes - - - - DNA SEQ - - Crigler-Najjar Pat5 PubMed: Yamamoto 1998 - F yes Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Yamamoto 1998 - - Germline yes - - - - DNA SEQ - - Crigler-Najjar Pat6 PubMed: Yamamoto 1998 - M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Paternal (confirmed) - VUS (!) g.234669144G>A - - - UGT1A1_000001 - PubMed: Huang 2001 - - Germline - - - - - DNA SEQ - - ? family PubMed: Huang 2001 brother M - Taiwan - - - - - 1 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - VUS (!) g.234669144G>A - - - UGT1A1_000001 normal serum bilirubin concentrations PubMed: Huang 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - Healthy/Control family PubMed: Huang 2001 father M - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic (dominant) g.234669144G>A - G>A (Gly71Arg) - UGT1A1_000001 - PubMed: Aono 1995 - - Germline - - - - - DNA SEQ - - Gilbert syndrome Pat1 PubMed: Aono 1995 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic (dominant) g.234669144G>A - G>A (G71R - UGT1A1_000001 - PubMed: Aono 1995 - - Germline - - - - - DNA SEQ - - Gilbert syndrome Pat3 PubMed: Aono 1995 - F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - likely pathogenic (!) g.234669144G>A - G71R - UGT1A1_000001 plasma bilirubin 0.69 mg/dl PubMed: Sugatani 2002 - - Germline - 18/50 chromosomes hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome - PubMed: Sugatani 2002 analysis 13 cases hyperbilirubinemia - - Japan - - - - - 1 Johan den Dunnen
+?/. _1 c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely pathogenic (!) g.234669144G>A - G71R - UGT1A1_000001 plasma bilirubin 0.69 mg/dl PubMed: Sugatani 2002 - - Germline - 18/50 chromosomes hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome - PubMed: Sugatani 2002 analysis 13 cases hyperbilirubinemia - - Japan - - - - - 4 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely pathogenic (!) g.234669144G>A - G71R - UGT1A1_000001 plasma bilirubin 0.82 mg/dl PubMed: Sugatani 2002 - - Germline - 18/50 chromosomes hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome - PubMed: Sugatani 2002 analysis 13 cases hyperbilirubinemia - - Japan - - - - - 3 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - likely pathogenic (!) g.234669144G>A - G71R - UGT1A1_000001 1/27 homozygous controls PubMed: Sugatani 2002 - - Germline - 18/50 cchormosomes hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome - PubMed: Sugatani 2002 analysis 25 cases hyperbilirubinemia - - Japan - - - - - 2 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely pathogenic (!) g.234669144G>A - G71R - UGT1A1_000001 7/27 heterozygous controls PubMed: Sugatani 2002 - - Germline - 18/50 cchormosomes hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome - PubMed: Sugatani 2002 analysis 25 cases hyperbilirubinemia - - Japan - - - - - 14 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - VUS (!) g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #2 - pathogenic g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 2 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #2 - pathogenic g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 4 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - pathogenic g.234669144G>A - - - UGT1A1_000001 correlates with increased serum bilirubin level PubMed: Huang 2000 - - Germline - 63/580 control chromosomes - - - DNA SEQ - - Healthy/Control control PubMed: Huang 2000 analysis 290 healthy controls - - Taiwan - - - - - 53 Johan den Dunnen
-/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely benign g.234669144G>A g.233760498G>A G>A (G71R) - UGT1A1_000001 combination of variants not reported PubMed: Farheen 2006 - - Germline - 9/95 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome - PubMed: Farheen 2006 analysis 95 cases Gilbert syndrome - - India - - - - - 9 Johan den Dunnen
-/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - likely benign g.234669144G>A g.233760498G>A G>A (G71R) - UGT1A1_000001 - PubMed: Farheen 2006 - - Germline - 1/95 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome - PubMed: Farheen 2006 analysis 95 cases Gilbert syndrome - - India - - - - - 1 Johan den Dunnen
-/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely benign g.234669144G>A g.233760498G>A G>A (G71R) - UGT1A1_000001 combination of variants not reported; 0/95 homozygotes PubMed: Farheen 2006 - - Germline - 5/95 cases Gilbert syndrome - - - DNA SEQ - - Healthy/Control - PubMed: Farheen 2006 analysis 96 controls - - India - - - - - 5 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Unknown - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 associated with increased plasma bilirubin levels PubMed: Sai 2004 - - Germline - 0.151 - - - DNA SEQ - - ? - PubMed: Sai 2004 analysis 195 individuals (88 cancer administered irinotecan/107 cardiovascular administered beta-blockers) - - Japan - - - - - 1 Johan den Dunnen
?/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - VUS g.234669144G>A g.233760498G>A 211G>A; 1456T>G - UGT1A1_000001 - PubMed: Petit 2006 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat11 PubMed: Petit 2006 - - - Tunisia - - - - - 1 Johan den Dunnen
+/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - likely pathogenic g.234669144G>A - - - UGT1A1_000001 reduced activity PubMed: Aono 1993 - - Germline - - - - - DNA SEQ - - Crigler-Najjar patient PubMed: Aono 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Japan - - - - - 1 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely pathogenic g.234669144G>A - - - UGT1A1_000001 no homozygotes PubMed: Yusoff 2006 - - Germline - 3/55 cases hyperbilirubinemia - - - DNA SEQ - - Gilbert syndrome cases PubMed: Yusoff 2006 analysis 55 hyperbilirubinemia cases - - Malaysia - - - - - 3 Johan den Dunnen
+?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - likely pathogenic g.234669144G>A - - - UGT1A1_000001 no homozygotes PubMed: Yusoff 2006 - - Germline - 3/50 controls - - - DNA SEQ - - Healthy/Control controls PubMed: Yusoff 2006 analysis 50 controls - - Malaysia - - - - - 3 Johan den Dunnen
?/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - VUS g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Sneitz 2010 - - Germline - - - - - DNA SEQ - - Crigler-Najjar Pat12 PubMed: Sneitz 2010 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - pathogenic (recessive) g.234669144G>A - - - UGT1A1_000001 - PubMed: Liu 2012 - - Germline - - - - - DNA SEQ - - Crigler-Najjar patient PubMed: Liu 2012 - M - China - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. 1i c.211G>A - r.(?) p.(Gly71Arg) Parent #2 - pathogenic (recessive) g.234669144G>A g.233760498G>A - - UGT1A1_000001 - 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
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 3/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG6 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 3 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 6/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG7 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 6 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 2/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG10 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 2 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 1/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG11 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 1/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG12 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Unknown - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 11/64 cases Gilbert syndrome - - - DNA SEQ - - Gilbert syndrome PatG4 PubMed: Takeuchi 2004 analysis 64 Gilbert syndrome cases - - Japan - - - - - 11 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - - - - - DNA SEQ - - Crigler-Najjar - PubMed: Takeuchi 2004 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - - - - - DNA SEQ - - Crigler-Najjar - PubMed: Takeuchi 2004 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - - - - - DNA SEQ - - Crigler-Najjar - PubMed: Takeuchi 2004 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Parent #1 - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 18/71 controls - - - DNA SEQ - - Healthy/Control - PubMed: Takeuchi 2004 analysis 71 controls - - Japan - - - - - 18 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Both (homozygous) - association g.234669144G>A g.233760498G>A prom.TA6 - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 3/71 controls - - - DNA SEQ - - Healthy/Control - PubMed: Takeuchi 2004 analysis 71 controls - - Japan - - - - - 3 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Unknown - association g.234669144G>A g.233760498G>A - - UGT1A1_000001 - PubMed: Takeuchi 2004 - - Germline - 2/71 controls - - - DNA SEQ - - Healthy/Control - PubMed: Takeuchi 2004 analysis 71 controls - - Japan - - - - - 2 Johan den Dunnen
?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Parent #1 - VUS g.234669144G>A g.233760498G>A - - UGT1A1_000001 combination of variants see Figs.3/4 PubMed: Yea 2008 - - Germline - 9/50 controls - - - DNA SEQ - analysis UGT1A1-UGT1A10 genes Healthy/Control controls PubMed: Yea 2008 analysis 50 controls - - Korea - - - - - 9 Johan den Dunnen
?/. - c.211G>A UGT1A1*6 r.(?) p.(Gly71Arg) Both (homozygous) - VUS g.234669144G>A g.233760498G>A - - UGT1A1_000001 combination of variants see Figs.3/4 PubMed: Yea 2008 - - Germline - 1/50 controls - - - DNA SEQ - analysis UGT1A1-UGT1A10 genes Healthy/Control controls PubMed: Yea 2008 analysis 50 controls - - Korea - - - - - 1 Johan den Dunnen
+/. - c.211G>A - r.(?) p.(Gly71Arg) Unknown - pathogenic g.234669144G>A - UGT1A1(NM_000463.2):c.211G>A (p.G71R), UGT1A1(NM_000463.3):c.211G>A (p.G71R) - UGT1A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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