NM_000463.3(UGT1A1):c.907G>A (p.Val303Met) |
single nucleotide variant |
UGT1A1-related condition [RCV003411667]|not provided [RCV000728134] |
Chr2:233767076 [GRCh38] Chr2:234675722 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1174C>T (p.Pro392Ser) |
single nucleotide variant |
not provided [RCV000729132] |
Chr2:233768309 [GRCh38] Chr2:234676955 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1198A>C (p.Asn400His) |
single nucleotide variant |
not provided [RCV000729304] |
Chr2:233768333 [GRCh38] Chr2:234676979 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.877_890delinsA (p.Tyr293fs) |
indel |
Crigler-Najjar syndrome type 1 [RCV000013053]|not provided [RCV000594259] |
Chr2:233767046..233767059 [GRCh38] Chr2:234675692..234675705 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV003387719]|Crigler-Najjar syndrome type 1 [RCV000013054]|not provided [RCV001851815] |
Chr2:233768259 [GRCh38] Chr2:234676905 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013055] |
Chr2:233767160 [GRCh38] Chr2:234675806 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013056]|Gilbert syndrome [RCV000013057]|not provided [RCV001818151] |
Chr2:233767873 [GRCh38] Chr2:234676519 [GRCh37] Chr2:2q37.1 |
pathogenic|affects |
NM_000463.3(UGT1A1):c.992A>G (p.Gln331Arg) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV000013058]|not provided [RCV001818152] |
Chr2:233767161 [GRCh38] Chr2:234675807 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del) |
microsatellite |
Crigler-Najjar syndrome type 1 [RCV000013059] |
Chr2:233760795..233760797 [GRCh38] Chr2:234669441..234669443 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013060]|Gilbert syndrome [RCV002247330]|not provided [RCV003114188] |
Chr2:233767092 [GRCh38] Chr2:234675738 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013061] |
Chr2:233761127 [GRCh38] Chr2:234669773 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV000013063]|Gilbert syndrome [RCV000013062]|UGT1A1-related condition [RCV003390674]|not provided [RCV000299521]|not specified [RCV000147905] |
Chr2:233760973 [GRCh38] Chr2:234669619 [GRCh37] Chr2:2q37.1 |
pathogenic|affects|benign|conflicting interpretations of pathogenicity|uncertain significance|other |
UGT1A1*28 |
microsatellite |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000022809]|Bilirubin, serum level of, quantitative trait locus 1 [RCV001269334]|Crigler-Najjar syndrome, type II [RCV000013065]|Gilbert syndrome [RCV000013064]|Irinotecan response [RCV000664404]|Lucey-Driscoll syndrome [RCV000022808]|not provided [RCV001093257]|not specified [RCV000249621] |
Chr2:233760233..233760234 [GRCh38] Chr2:234668881 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|association|affects|benign|conflicting interpretations of pathogenicity|drug response|no classifications from unflagged records|other |
NM_000463.3(UGT1A1):c.474_475insT (p.Ile159fs) |
insertion |
Crigler-Najjar syndrome type 1 [RCV000013067] |
Chr2:233760761..233760762 [GRCh38] Chr2:234669407..234669408 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.864+1G>C |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013068]|not provided [RCV000731416] |
Chr2:233761152 [GRCh38] Chr2:234669798 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013069] |
Chr2:233760432 [GRCh38] Chr2:234669078 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1085-2A>G |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013070] |
Chr2:233768218 [GRCh38] Chr2:234676864 [GRCh37] Chr2:2q37.1 |
pathogenic |
UGT1A1*6 |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000022811]|Crigler-Najjar syndrome, type II [RCV000987059]|Gilbert syndrome [RCV000013071]|Irinotecan response [RCV000664403]|Lucey-Driscoll syndrome [RCV000022810]|not provided [RCV001508487]|not specified [RCV000173139] |
Chr2:233760498 [GRCh38] Chr2:234669144 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|association|affects|benign|likely benign|conflicting interpretations of pathogenicity|drug response|other |
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000763480]|Crigler-Najjar syndrome, type II [RCV000013074]|Gilbert syndrome [RCV000999563]|Hyperbilirubinemia [RCV000147900]|Lucey-Driscoll syndrome [RCV000013073]|not provided [RCV001810853] |
Chr2:233772413 [GRCh38] Chr2:234681059 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_001072.4(UGT1A6):c.862-8098= |
single nucleotide variant |
Lucey-Driscoll syndrome [RCV000013075] |
Chr2:233758936 [GRCh38] Chr2:234667582 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1070A>G (p.Gln357Arg) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV000013076] |
Chr2:233767922 [GRCh38] Chr2:234676568 [GRCh37] Chr2:2q37.1 |
pathogenic |
UGT1A1, 1-BP DEL, 1223A |
deletion |
Crigler-Najjar syndrome, type II [RCV000013077] |
Chr2:2q37 |
pathogenic |
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV000013078]|not provided [RCV000726992] |
Chr2:233760811 [GRCh38] Chr2:234669457 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|other |
NM_000463.3(UGT1A1):c.1198A>G (p.Asn400Asp) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV000013079]|Gilbert syndrome [RCV000013080]|UGT1A1-Related Disorders [RCV000779315] |
Chr2:233768333 [GRCh38] Chr2:234676979 [GRCh37] Chr2:2q37.1 |
pathogenic|affects|uncertain significance |
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002496334]|Crigler-Najjar syndrome, type II [RCV000013081]|not provided [RCV001529911] |
Chr2:233760331 [GRCh38] Chr2:234668977 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_001072.4(UGT1A6):c.862-10021T>G |
single nucleotide variant |
Gilbert syndrome [RCV000999557]|Gilbert syndrome, susceptibility to [RCV000013082]|not provided [RCV001810854] |
Chr2:233757013 [GRCh38] Chr2:234665659 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|risk factor|benign |
NM_000463.3(UGT1A1):c.864+2842G>T |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000013083]|Gilbert syndrome [RCV000999560] |
Chr2:233763993 [GRCh38] Chr2:234672639 [GRCh37] Chr2:2q37.1 |
association|benign |
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) |
single nucleotide variant |
not provided [RCV000594084] |
Chr2:233768296 [GRCh38] Chr2:234676942 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 |
copy number loss |
See cases [RCV000050304] |
Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1(chr2:233420162-233761780)x3 |
copy number gain |
See cases [RCV000050828] |
Chr2:233420162..233761780 [GRCh38] Chr2:234229606..234670426 [GRCh37] Chr2:233894345..234335165 [NCBI36] Chr2:2q37.1 |
uncertain significance |
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 |
copy number gain |
See cases [RCV000051119] |
Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 |
copy number loss |
See cases [RCV000052638] |
Chr2:227343278..235339168 [GRCh38] Chr2:228207994..236247812 [GRCh37] Chr2:227916238..235912551 [NCBI36] Chr2:2q36.3-37.2 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] |
Chr2:231375505..242065208 [GRCh38] Chr2:232240216..243007359 [GRCh37] Chr2:231948460..242656032 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 |
copy number loss |
See cases [RCV000052640] |
Chr2:232857728..242065349 [GRCh38] Chr2:233722438..243007500 [GRCh37] Chr2:233430682..242656173 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 |
copy number loss |
See cases [RCV000052637] |
Chr2:226978129..236886599 [GRCh38] Chr2:227842845..237795242 [GRCh37] Chr2:227551089..237459981 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 |
copy number loss |
See cases [RCV000052641] |
Chr2:233420162..242086301 [GRCh38] Chr2:233995840..243028452 [GRCh37] Chr2:233704084..242677125 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 |
copy number loss |
See cases [RCV000052642] |
Chr2:233453611..242099155 [GRCh38] Chr2:234362257..243041306 [GRCh37] Chr2:234026996..242689979 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 |
copy number gain |
See cases [RCV000052958] |
Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 |
copy number gain |
See cases [RCV000052959] |
Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] |
Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3 |
pathogenic |
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] |
Chr2:223992431..242126245 [GRCh38] Chr2:224857148..243059659 [GRCh37] Chr2:224565392..242717069 [NCBI36] Chr2:2q36.1-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 |
copy number gain |
See cases [RCV000052973] |
Chr2:227803148..242086301 [GRCh38] Chr2:228667864..243028452 [GRCh37] Chr2:228376108..242677125 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q37.1(chr2:233687049-234225737)x1 |
copy number loss |
See cases [RCV000053813] |
Chr2:233687049..234225737 [GRCh38] Chr2:234595695..235134381 [GRCh37] Chr2:234260434..234799120 [NCBI36] Chr2:2q37.1 |
uncertain significance |
NM_000463.2(UGT1A1):c.347T>A (p.Ile116Lys) |
single nucleotide variant |
Malignant melanoma [RCV000060519] |
Chr2:233760634 [GRCh38] Chr2:234669280 [GRCh37] Chr2:234334019 [NCBI36] Chr2:2q37.1 |
not provided |
NM_000463.3(UGT1A1):c.1075G>A (p.Asp359Asn) |
single nucleotide variant |
Gilbert syndrome [RCV001733511]|not provided [RCV001810752] |
Chr2:233767927 [GRCh38] Chr2:234676573 [GRCh37] Chr2:234341312 [NCBI36] Chr2:2q37.1 |
uncertain significance|not provided |
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000661992]|Crigler-Najjar syndrome, type II [RCV003152724]|not provided [RCV000661993] |
Chr2:233772524 [GRCh38] Chr2:234681170 [GRCh37] Chr2:2q37.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 |
copy number loss |
See cases [RCV000446034] |
Chr2:233784243..243040217 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_001072.4(UGT1A6):c.862-7110C>T |
single nucleotide variant |
atazanavir response - Other [RCV000211430] |
Chr2:233759924 [GRCh38] Chr2:234668570 [GRCh37] Chr2:2q37.1 |
drug response |
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs) |
duplication |
Crigler-Najjar syndrome type 1 [RCV000256423]|Gilbert syndrome [RCV003445825]|Inborn genetic diseases [RCV000622908]|not provided [RCV003137872] |
Chr2:233760634..233760635 [GRCh38] Chr2:234669280..234669281 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NC_000002.11:g.234668881_234668882TA[5][6][7][8] |
microsatellite |
SN-38 response - Other [RCV000211306]|atazanavir and ritonavir response - Toxicity/ADR [RCV000211183]|irinotecan response - Toxicity/ADR [RCV000211397] |
Chr2:233760235..233760236 [GRCh38] Chr2:234668881..234668882 [GRCh37] Chr2:2q37.1 |
drug response |
NM_000463.3(UGT1A1):c.1084+1G>T |
single nucleotide variant |
Hyperbilirubinemia [RCV000147893]|not provided [RCV000733614] |
Chr2:233767937 [GRCh38] Chr2:234676583 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) |
single nucleotide variant |
Hyperbilirubinemia [RCV000147894]|not provided [RCV000731958] |
Chr2:233768366 [GRCh38] Chr2:234677012 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1354G>T (p.Val452Leu) |
single nucleotide variant |
Hyperbilirubinemia [RCV000147895] |
Chr2:233772311 [GRCh38] Chr2:234680957 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1413G>A (p.Ala471=) |
single nucleotide variant |
Hyperbilirubinemia [RCV000147896] |
Chr2:233772370 [GRCh38] Chr2:234681016 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.141C>A (p.Ile47=) |
single nucleotide variant |
Hyperbilirubinemia [RCV000147897] |
Chr2:233760428 [GRCh38] Chr2:234669074 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001139759]|Gilbert syndrome [RCV001139760]|Hyperbilirubinemia [RCV000147898]|Lucey-Driscoll syndrome [RCV001139758]|not provided [RCV000963286]|not specified [RCV000383880] |
Chr2:233760428 [GRCh38] Chr2:234669074 [GRCh37] Chr2:2q37.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1428C>T (p.Pro476=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140744]|Gilbert syndrome [RCV001140745]|Lucey-Driscoll syndrome [RCV001140746]|not provided [RCV000956057]|not specified [RCV000147899] |
Chr2:233772385 [GRCh38] Chr2:234681031 [GRCh37] Chr2:2q37.1 |
benign|likely benign|uncertain significance |
NM_000463.3(UGT1A1):c.322C>T (p.Arg108Cys) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV003388574]|Gilbert syndrome [RCV002288658]|Hyperbilirubinemia [RCV000147901]|Inborn genetic diseases [RCV002515992] |
Chr2:233760609 [GRCh38] Chr2:234669255 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.476T>C (p.Ile159Thr) |
single nucleotide variant |
Hyperbilirubinemia [RCV000147902] |
Chr2:233760763 [GRCh38] Chr2:234669409 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.479T>A (p.Val160Glu) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV001450052]|Hyperbilirubinemia [RCV000147903] |
Chr2:233760766 [GRCh38] Chr2:234669412 [GRCh37] Chr2:2q37.1 |
likely pathogenic|uncertain significance |
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000348706]|Crigler-Najjar syndrome type 1 [RCV001004164]|Gilbert syndrome [RCV000313763]|Hyperbilirubinemia [RCV000147904]|Inborn genetic diseases [RCV002514850]|Lucey-Driscoll syndrome [RCV000396791]|UGT1A1-related condition [RCV003415983]|not provided [RCV000592026] |
Chr2:233760961 [GRCh38] Chr2:234669607 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000463.3(UGT1A1):c.748T>C (p.Ser250Pro) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140642]|Gilbert syndrome [RCV001142507]|Hyperbilirubinemia [RCV000147906]|Lucey-Driscoll syndrome [RCV001142508]|not provided [RCV000728350] |
Chr2:233761035 [GRCh38] Chr2:234669681 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.996+15T>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000299727]|Gilbert syndrome [RCV000263302]|Hyperbilirubinemia [RCV000147907]|Lucey-Driscoll syndrome [RCV000354615]|not provided [RCV002055942] |
Chr2:233767180 [GRCh38] Chr2:234675826 [GRCh37] Chr2:2q37.1 |
benign|likely benign|uncertain significance |
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 |
copy number gain |
See cases [RCV000134169] |
Chr2:228723579..241404867 [GRCh38] Chr2:229588295..242344282 [GRCh37] Chr2:229296539..241992955 [NCBI36] Chr2:2q36.3-37.3 |
pathogenic |
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 |
copy number gain |
See cases [RCV000135934] |
Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3 |
pathogenic |
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3 |
copy number gain |
See cases [RCV000136967] |
Chr2:228014149..234976424 [GRCh38] Chr2:228878865..235885068 [GRCh37] Chr2:228587109..235549807 [NCBI36] Chr2:2q36.3-37.2 |
pathogenic |
NM_021027.3(UGT1A9):c.1420G>T (p.Ala474Ser) |
single nucleotide variant |
not specified [RCV000203111] |
Chr2:233772386 [GRCh38] Chr2:234681032 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 |
copy number gain |
See cases [RCV000142307] |
Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3 |
pathogenic |
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 |
copy number gain |
See cases [RCV000143216] |
Chr2:218101759..242126245 [GRCh38] Chr2:218966482..243059659 [GRCh37] Chr2:218674727..242717069 [NCBI36] Chr2:2q35-37.3 |
pathogenic |
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 |
copy number loss |
See cases [RCV000148260] |
Chr2:231770279..242126245 [GRCh38] Chr2:232634989..243059659 [GRCh37] Chr2:232343233..242717069 [NCBI36] Chr2:2q37.1-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000359133]|Gilbert syndrome [RCV000324135]|Lucey-Driscoll syndrome [RCV000264419]|not provided [RCV000178105] |
Chr2:233768257 [GRCh38] Chr2:234676903 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002478593]|not provided [RCV000178772] |
Chr2:233772309 [GRCh38] Chr2:234680955 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000763479]|Crigler-Najjar syndrome type 1 [RCV001250229]|Gilbert syndrome [RCV000999562]|Hyperbilirubinemia [RCV000194762]|UGT1A1-related condition [RCV003401059]|not provided [RCV000300556] |
Chr2:233768226 [GRCh38] Chr2:234676872 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs) |
insertion |
Hyperbilirubinemia [RCV000193803] |
Chr2:233760524..233760525 [GRCh38] Chr2:234669170..234669171 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs) |
microsatellite |
Crigler-Najjar syndrome type 1 [RCV001450051]|Hyperbilirubinemia [RCV000194838]|UGT1A1-Related Disorders [RCV003315235]|not provided [RCV000594736] |
Chr2:233761003..233761004 [GRCh38] Chr2:234669649..234669650 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1069C>T (p.Gln357Ter) |
single nucleotide variant |
not provided [RCV000378373] |
Chr2:233767921 [GRCh38] Chr2:234676567 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.294T>C (p.Asn98=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000376048]|Gilbert syndrome [RCV000321659]|Lucey-Driscoll syndrome [RCV000286475]|not provided [RCV002057676] |
Chr2:233760581 [GRCh38] Chr2:234669227 [GRCh37] Chr2:2q37.1 |
likely benign|uncertain significance |
NM_000463.3(UGT1A1):c.1322T>C (p.Met441Thr) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000378763]|Gilbert syndrome [RCV000270243]|Lucey-Driscoll syndrome [RCV000325272]|not provided [RCV000732528] |
Chr2:233772279 [GRCh38] Chr2:234680925 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*339G>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000278221]|Gilbert syndrome [RCV000404223]|Lucey-Driscoll syndrome [RCV000338732] |
Chr2:233772898 [GRCh38] Chr2:234681544 [GRCh37] Chr2:2q37.1 |
benign|likely benign |
NM_000463.3(UGT1A1):c.*440G>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000303713]|Gilbert syndrome [RCV000406231]|Lucey-Driscoll syndrome [RCV000358476] |
Chr2:233772999 [GRCh38] Chr2:234681645 [GRCh37] Chr2:2q37.1 |
benign|likely benign |
NM_000463.3(UGT1A1):c.300T>C (p.Phe100=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000341435]|Gilbert syndrome [RCV000287802]|Lucey-Driscoll syndrome [RCV000381982]|not provided [RCV000731664] |
Chr2:233760587 [GRCh38] Chr2:234669233 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*201G>A |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000384335]|Gilbert syndrome [RCV000331006]|Lucey-Driscoll syndrome [RCV000289955] |
Chr2:233772760 [GRCh38] Chr2:234681406 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*211T>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000350782]|Gilbert syndrome [RCV000295923]|Lucey-Driscoll syndrome [RCV000385532]|not provided [RCV001636937] |
Chr2:233772770 [GRCh38] Chr2:234681416 [GRCh37] Chr2:2q37.1 |
benign|likely benign |
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000312449]|Gilbert syndrome [RCV000347475]|Lucey-Driscoll syndrome [RCV000405057]|not provided [RCV000598199] |
Chr2:233760764 [GRCh38] Chr2:234669410 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137634]|Gilbert syndrome [RCV001137635]|Lucey-Driscoll syndrome [RCV001137633]|not provided [RCV000270224] |
Chr2:233760613 [GRCh38] Chr2:234669259 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1099C>T (p.Arg367Cys) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002480034]|UGT1A1-related condition [RCV003417905]|not provided [RCV000306415] |
Chr2:233768234 [GRCh38] Chr2:234676880 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1073A>C (p.Asn358Thr) |
single nucleotide variant |
not provided [RCV000342307] |
Chr2:233767925 [GRCh38] Chr2:234676571 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.577G>A (p.Val193Met) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140637]|Gilbert syndrome [RCV001139858]|Inborn genetic diseases [RCV002518136]|Lucey-Driscoll syndrome [RCV001140638]|not provided [RCV000344287] |
Chr2:233760864 [GRCh38] Chr2:234669510 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.138C>T (p.Ala46=) |
single nucleotide variant |
not provided [RCV000314468] |
Chr2:233760425 [GRCh38] Chr2:234669071 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.575A>G (p.Tyr192Cys) |
single nucleotide variant |
not provided [RCV000315749] |
Chr2:233760862 [GRCh38] Chr2:234669508 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.137C>T (p.Ala46Val) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002504027]|not provided [RCV000386459] |
Chr2:233760424 [GRCh38] Chr2:234669070 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001139856]|Gilbert syndrome [RCV001139855]|Lucey-Driscoll syndrome [RCV001139857]|not provided [RCV000727204]|not specified [RCV000389831] |
Chr2:233760827 [GRCh38] Chr2:234669473 [GRCh37] Chr2:2q37.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) |
single nucleotide variant |
not provided [RCV000286346] |
Chr2:233768310 [GRCh38] Chr2:234676956 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1324C>T (p.Arg442Cys) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000765634]|Crigler-Najjar syndrome [RCV001139988]|not provided [RCV000725932] |
Chr2:233772281 [GRCh38] Chr2:234680927 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.1001T>A (p.Leu334Gln) |
single nucleotide variant |
not provided [RCV000594635] |
Chr2:233767853 [GRCh38] Chr2:234676499 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.801C>T (p.Pro267=) |
single nucleotide variant |
not provided [RCV000596531] |
Chr2:233761088 [GRCh38] Chr2:234669734 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*585G>T |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000364364]|Gilbert syndrome [RCV000304991]|Lucey-Driscoll syndrome [RCV000394302] |
Chr2:233773144 [GRCh38] Chr2:234681790 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.399C>G (p.Asn133Lys) |
single nucleotide variant |
not provided [RCV000598431] |
Chr2:233760686 [GRCh38] Chr2:234669332 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV000987060]|UGT1A1-related condition [RCV003392429]|not provided [RCV000591882] |
Chr2:233761122 [GRCh38] Chr2:234669768 [GRCh37] Chr2:2q37.1 |
pathogenic|uncertain significance |
NM_000463.3(UGT1A1):c.1459C>T (p.His487Tyr) |
single nucleotide variant |
not provided [RCV000598546] |
Chr2:233772416 [GRCh38] Chr2:234681062 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1564G>A (p.Gly522Arg) |
single nucleotide variant |
not provided [RCV000591971] |
Chr2:233772521 [GRCh38] Chr2:234681167 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.19G>A (p.Gly7Ser) |
single nucleotide variant |
not provided [RCV000592885] |
Chr2:233760306 [GRCh38] Chr2:234668952 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1208G>A (p.Arg403His) |
single nucleotide variant |
not provided [RCV000593141] |
Chr2:233768343 [GRCh38] Chr2:234676989 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1156G>A (p.Val386Ile) |
single nucleotide variant |
not provided [RCV000591349] |
Chr2:233768291 [GRCh38] Chr2:234676937 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1108A>G (p.Ile370Val) |
single nucleotide variant |
Gilbert syndrome [RCV002289999]|not provided [RCV000730540] |
Chr2:233768243 [GRCh38] Chr2:234676889 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.838T>G (p.Cys280Gly) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142509]|Gilbert syndrome [RCV001142511]|Lucey-Driscoll syndrome [RCV001142510]|not provided [RCV000730662] |
Chr2:233761125 [GRCh38] Chr2:234669771 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1348C>T (p.Arg450Cys) |
single nucleotide variant |
UGT1A1-related condition [RCV003411677]|not provided [RCV000731951] |
Chr2:233772305 [GRCh38] Chr2:234680951 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.142C>G (p.Gln48Glu) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001139762]|Gilbert syndrome [RCV001139763]|Lucey-Driscoll syndrome [RCV001139761]|not provided [RCV000733745] |
Chr2:233760429 [GRCh38] Chr2:234669075 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.22G>A (p.Gly8Arg) |
single nucleotide variant |
not provided [RCV000733748] |
Chr2:233760309 [GRCh38] Chr2:234668955 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) |
single nucleotide variant |
not provided [RCV000734333] |
Chr2:233760446 [GRCh38] Chr2:234669092 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) |
single nucleotide variant |
not provided [RCV000733106] |
Chr2:233767912 [GRCh38] Chr2:234676558 [GRCh37] Chr2:2q37.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) |
single nucleotide variant |
not provided [RCV000733119] |
Chr2:233772415 [GRCh38] Chr2:234681061 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.195G>A (p.Ser65=) |
single nucleotide variant |
not provided [RCV000735145] |
Chr2:233760482 [GRCh38] Chr2:234669128 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1100G>T (p.Arg367Leu) |
single nucleotide variant |
not provided [RCV000728545] |
Chr2:233768235 [GRCh38] Chr2:234676881 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.862-6799_862-6798insTA |
insertion |
Gilbert syndrome [RCV000999559]|UGT1A1-Related Disorders [RCV003315252]|not provided [RCV000730016] |
Chr2:233760235..233760236 [GRCh38] Chr2:234668881..234668882 [GRCh37] Chr2:2q37.1 |
pathogenic|other |
NM_000463.3(UGT1A1):c.817G>T (p.Val273Phe) |
single nucleotide variant |
not provided [RCV000731403] |
Chr2:233761104 [GRCh38] Chr2:234669750 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.167A>C (p.Glu56Ala) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140529]|Gilbert syndrome [RCV001140530]|Lucey-Driscoll syndrome [RCV001140528]|not provided [RCV000732295] |
Chr2:233760454 [GRCh38] Chr2:234669100 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.-4C>T |
single nucleotide variant |
not provided [RCV000733270] |
Chr2:233760284 [GRCh38] Chr2:234668930 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1110_1150delinsGC (p.Ile370_Asn384delinsMetHis) |
indel |
not provided [RCV000731500] |
Chr2:233768245..233768285 [GRCh38] Chr2:234676891..234676931 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg) |
indel |
not provided [RCV000733308] |
Chr2:233768295..233768296 [GRCh38] Chr2:234676941..234676942 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) |
single nucleotide variant |
not provided [RCV000734728] |
Chr2:233767878 [GRCh38] Chr2:234676524 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.428G>A (p.Ser143Asn) |
single nucleotide variant |
not provided [RCV000732619] |
Chr2:233760715 [GRCh38] Chr2:234669361 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.386A>G (p.His129Arg) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137639]|Gilbert syndrome [RCV001137640]|Lucey-Driscoll syndrome [RCV001139854]|not provided [RCV000729869] |
Chr2:233760673 [GRCh38] Chr2:234669319 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1170G>A (p.Met390Ile) |
single nucleotide variant |
not provided [RCV000732927] |
Chr2:233768305 [GRCh38] Chr2:234676951 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1470C>T (p.Asp490=) |
single nucleotide variant |
not provided [RCV000731910] |
Chr2:233772427 [GRCh38] Chr2:234681073 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1455G>A (p.Gln485=) |
single nucleotide variant |
not provided [RCV000731934] |
Chr2:233772412 [GRCh38] Chr2:234681058 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1544G>T (p.Arg515Leu) |
single nucleotide variant |
not provided [RCV000731935] |
Chr2:233772501 [GRCh38] Chr2:234681147 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1349G>A (p.Arg450His) |
single nucleotide variant |
UGT1A1-related condition [RCV003420314]|not provided [RCV000734944] |
Chr2:233772306 [GRCh38] Chr2:234680952 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1(chr2:232215111-235593473)x1 |
copy number loss |
See cases [RCV000446723] |
Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 |
copy number loss |
See cases [RCV000446061] |
Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 |
copy number gain |
See cases [RCV000448049] |
Chr2:219966808..237815985 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser) |
single nucleotide variant |
UGT1A1-related condition [RCV003419798]|not provided [RCV000482866] |
Chr2:233767936 [GRCh38] Chr2:234676582 [GRCh37] Chr2:2q37.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 |
copy number loss |
See cases [RCV000512077] |
Chr2:234495262..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000503589]|Crigler-Najjar syndrome, type II [RCV001727734]|Inborn genetic diseases [RCV000623653]|UGT1A1-related condition [RCV003403178]|not provided [RCV002508784] |
Chr2:233760912 [GRCh38] Chr2:234669558 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000503685]|not provided [RCV000730191] |
Chr2:233767858 [GRCh38] Chr2:234676504 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV000501478]|not provided [RCV000597815] |
Chr2:233760509 [GRCh38] Chr2:234669155 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.592T>C (p.Ser198Pro) |
single nucleotide variant |
not specified [RCV000501526] |
Chr2:233760879 [GRCh38] Chr2:234669525 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln) |
deletion |
Crigler-Najjar syndrome [RCV000503758]|not provided [RCV001857182] |
Chr2:233760895..233760918 [GRCh38] Chr2:234669541..234669564 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.72G>A (p.Val24=) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002496961]|not specified [RCV000499372] |
Chr2:233760359 [GRCh38] Chr2:234669005 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs) |
duplication |
Crigler-Najjar syndrome [RCV000500693]|not provided [RCV000598144] |
Chr2:233760908..233760909 [GRCh38] Chr2:234669555..234669558 [GRCh37] Chr2:2q37.1 |
pathogenic |
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 |
copy number gain |
See cases [RCV000511816] |
Chr2:222077224..239394441 [GRCh37] Chr2:2q36.1-37.3 |
pathogenic |
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 |
copy number gain |
See cases [RCV000512009] |
Chr2:213518431..242783384 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1 |
copy number loss |
See cases [RCV000510939] |
Chr2:234401465..235250353 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.996+18C>T |
single nucleotide variant |
not provided [RCV001523096] |
Chr2:233767183 [GRCh38] Chr2:234675829 [GRCh37] Chr2:2q37.1 |
benign |
Single allele |
duplication |
Crigler Najjar syndrome, type 1 [RCV000598144] |
Chr2:234669555..234669558 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1085G>T (p.Gly362Val) |
single nucleotide variant |
not provided [RCV000595778] |
Chr2:233768220 [GRCh38] Chr2:234676866 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1555G>A (p.Gly519Arg) |
single nucleotide variant |
not provided [RCV000595876] |
Chr2:233772512 [GRCh38] Chr2:234681158 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1207C>T (p.Arg403Cys) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV000765633]|not provided [RCV000595005] |
Chr2:233768342 [GRCh38] Chr2:234676988 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1558A>G (p.Lys520Glu) |
single nucleotide variant |
not provided [RCV000595503] |
Chr2:233772515 [GRCh38] Chr2:234681161 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140532]|Gilbert syndrome [RCV001140531]|Lucey-Driscoll syndrome [RCV001140533]|not provided [RCV000596864] |
Chr2:233760476 [GRCh38] Chr2:234669122 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.210C>G (p.Asp70Glu) |
single nucleotide variant |
not provided [RCV000595368] |
Chr2:233760497 [GRCh38] Chr2:234669143 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1495G>A (p.Val499Met) |
single nucleotide variant |
not provided [RCV000513472] |
Chr2:233772452 [GRCh38] Chr2:234681098 [GRCh37] Chr2:2q37.1 |
uncertain significance |
UGT1A1*36 |
microsatellite |
Irinotecan response [RCV000664406]|not provided [RCV001515198] |
Chr2:233760234..233760235 [GRCh38] Chr2:234668880..234668881 [GRCh37] Chr2:2q37.1 |
benign|drug response |
UGT1A1*37 |
microsatellite |
Irinotecan response [RCV000664405]|UGT1A1-related condition [RCV003420167]|not provided [RCV001508486] |
Chr2:233760233..233760234 [GRCh38] Chr2:234668879..234668880 [GRCh37] Chr2:2q37.1 |
pathogenic|conflicting interpretations of pathogenicity|drug response|uncertain significance |
UGT1A1*1 |
microsatellite |
Irinotecan response [RCV000664402] |
Chr2:233760235..233760248 [GRCh38] Chr2:234668881..234668894 [GRCh37] Chr2:2q37.1 |
drug response |
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 |
copy number gain |
not provided [RCV000682170] |
Chr2:219225872..242016876 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NM_019076.5(UGT1A8):c.988-82T>C |
single nucleotide variant |
not provided [RCV001692534] |
Chr2:233767767 [GRCh38] Chr2:234676413 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.1445C>T (p.Thr482Ile) |
single nucleotide variant |
not provided [RCV001812912] |
Chr2:233772402 [GRCh38] Chr2:234681048 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142513]|Gilbert syndrome [RCV001142514]|Lucey-Driscoll syndrome [RCV001142512]|not provided [RCV000898514] |
Chr2:233767133 [GRCh38] Chr2:234675779 [GRCh37] Chr2:2q37.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000463.3(UGT1A1):c.672C>T (p.Asp224=) |
single nucleotide variant |
not provided [RCV000902971] |
Chr2:233760959 [GRCh38] Chr2:234669605 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1084+7T>C |
single nucleotide variant |
not provided [RCV000943280] |
Chr2:233767943 [GRCh38] Chr2:234676589 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1494C>T (p.Val498=) |
single nucleotide variant |
not provided [RCV000919303] |
Chr2:233772451 [GRCh38] Chr2:234681097 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.414C>G (p.Ala138=) |
single nucleotide variant |
not provided [RCV000925296] |
Chr2:233760701 [GRCh38] Chr2:234669347 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.282T>C (p.Ser94=) |
single nucleotide variant |
not provided [RCV000909203] |
Chr2:233760569 [GRCh38] Chr2:234669215 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.933C>A (p.Val311=) |
single nucleotide variant |
not provided [RCV000879248] |
Chr2:233767102 [GRCh38] Chr2:234675748 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.733C>T (p.Gln245Ter) |
single nucleotide variant |
UGT1A1-Related Disorders [RCV000779314] |
Chr2:233761020 [GRCh38] Chr2:234669666 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 |
copy number gain |
See cases [RCV000790568] |
Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.*188T>G |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137855]|Gilbert syndrome [RCV001137857]|Lucey-Driscoll syndrome [RCV001137856] |
Chr2:233772747 [GRCh38] Chr2:234681393 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*674G>A |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001138391]|Gilbert syndrome [RCV001138392]|Lucey-Driscoll syndrome [RCV001138390] |
Chr2:233773233 [GRCh38] Chr2:234681879 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.239_240insGTAC (p.Val81fs) |
insertion |
not specified [RCV001001244] |
Chr2:233760525..233760526 [GRCh38] Chr2:234669171..234669172 [GRCh37] Chr2:2q37.1 |
pathogenic |
NC_000002.12:g.233760235TA[5_11] |
microsatellite |
Levothyroxine response [RCV003317021] |
Chr2:233760235..233760246 [GRCh38] Chr2:2q37.1 |
other |
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 |
copy number gain |
not provided [RCV001007519] |
Chr2:230814690..242783384 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.1349G>T (p.Arg450Leu) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV003108246] |
Chr2:233772306 [GRCh38] Chr2:234680952 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.931del (p.Val311fs) |
deletion |
Crigler-Najjar syndrome type 1 [RCV001559125] |
Chr2:233767099 [GRCh38] Chr2:234675745 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.669C>T (p.Cys223=) |
single nucleotide variant |
not provided [RCV000907601] |
Chr2:233760956 [GRCh38] Chr2:234669602 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.*301G>A |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140869]|Gilbert syndrome [RCV001140870]|Lucey-Driscoll syndrome [RCV001140871] |
Chr2:233772860 [GRCh38] Chr2:234681506 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*84T>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142611]|Gilbert syndrome [RCV001142613]|Lucey-Driscoll syndrome [RCV001142612] |
Chr2:233772643 [GRCh38] Chr2:234681289 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.1443C>T (p.Tyr481=) |
single nucleotide variant |
not provided [RCV000912430] |
Chr2:233772409 [GRCh38] Chr2:234681055 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs) |
deletion |
Crigler-Najjar syndrome, type II [RCV002466687]|not provided [RCV001573511] |
Chr2:233768354 [GRCh38] Chr2:234677000 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_019076.5(UGT1A8):c.988-100_988-99dup |
duplication |
not provided [RCV001655533] |
Chr2:233767747..233767748 [GRCh38] Chr2:234676393..234676394 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.1076-79G>A |
single nucleotide variant |
not provided [RCV001718427] |
Chr2:233768141 [GRCh38] Chr2:234676787 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.1548A>T (p.Lys516Asn) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142608]|Gilbert syndrome [RCV001142610]|Lucey-Driscoll syndrome [RCV001142609]|not provided [RCV002557037] |
Chr2:233772505 [GRCh38] Chr2:234681151 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.862-9898G>A |
single nucleotide variant |
Gilbert syndrome [RCV000999558]|irinotecan response - Toxicity [RCV001788391] |
Chr2:233757136 [GRCh38] Chr2:234665782 [GRCh37] Chr2:2q37.1 |
likely benign|drug response |
NM_000463.3(UGT1A1):c.864+2925T>G |
single nucleotide variant |
Gilbert syndrome [RCV000999561] |
Chr2:233764076 [GRCh38] Chr2:234672722 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.361G>C (p.Ala121Pro) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137636]|Gilbert syndrome [RCV001137638]|Lucey-Driscoll syndrome [RCV001137637] |
Chr2:233760648 [GRCh38] Chr2:234669294 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.288G>A (p.Gly96=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142380]|Gilbert syndrome [RCV001142381]|Lucey-Driscoll syndrome [RCV001140534] |
Chr2:233760575 [GRCh38] Chr2:234669221 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*269C>T |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140867]|Gilbert syndrome [RCV001140868]|Lucey-Driscoll syndrome [RCV001140106] |
Chr2:233772828 [GRCh38] Chr2:234681474 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1410C>T (p.Gly470=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001139989]|Gilbert syndrome [RCV001140740]|Lucey-Driscoll syndrome [RCV001139990] |
Chr2:233772367 [GRCh38] Chr2:234681013 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1411G>A (p.Ala471Thr) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140743]|Gilbert syndrome [RCV001140741]|Lucey-Driscoll syndrome [RCV001140742]|UGT1A1-related condition [RCV003405344] |
Chr2:233772368 [GRCh38] Chr2:234681014 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019076.5(UGT1A8):c.1296-229A>C |
single nucleotide variant |
not provided [RCV001681735] |
Chr2:233772033 [GRCh38] Chr2:234680679 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.988-37T>C |
single nucleotide variant |
not provided [RCV001671504] |
Chr2:233767812 [GRCh38] Chr2:234676458 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.988-83C>T |
single nucleotide variant |
not provided [RCV001694717] |
Chr2:233767766 [GRCh38] Chr2:234676412 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.1180T>C (p.Phe394Leu) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137750]|Gilbert syndrome [RCV001139987]|Lucey-Driscoll syndrome [RCV001139986] |
Chr2:233768315 [GRCh38] Chr2:234676961 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*133G>A |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137852]|Gilbert syndrome [RCV001137853]|Lucey-Driscoll syndrome [RCV001137854] |
Chr2:233772692 [GRCh38] Chr2:234681338 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*419T>C |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142717]|Gilbert syndrome [RCV001142719]|Lucey-Driscoll syndrome [RCV001142718] |
Chr2:233772978 [GRCh38] Chr2:234681624 [GRCh37] Chr2:2q37.1 |
benign|uncertain significance |
NM_000463.3(UGT1A1):c.1518C>A (p.Thr506=) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001142606]|Gilbert syndrome [RCV001140747]|Lucey-Driscoll syndrome [RCV001142607] |
Chr2:233772475 [GRCh38] Chr2:234681121 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 |
copy number loss |
not provided [RCV001007520] |
Chr2:234090049..239494702 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.25C>T (p.Arg9Cys) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001139757]|Gilbert syndrome [RCV001137542]|Lucey-Driscoll syndrome [RCV001139756] |
Chr2:233760312 [GRCh38] Chr2:234668958 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1028C>T (p.Ser343Leu) |
single nucleotide variant |
UGT1A1-related condition [RCV003413794]|not provided [RCV003103885] |
Chr2:233767880 [GRCh38] Chr2:234676526 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.*461G>T |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001137974]|Gilbert syndrome [RCV001137973]|Lucey-Driscoll syndrome [RCV001137975] |
Chr2:233773020 [GRCh38] Chr2:234681666 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.584G>A (p.Arg195Lys) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV001140639]|Gilbert syndrome [RCV001140641]|Inborn genetic diseases [RCV002556996]|Lucey-Driscoll syndrome [RCV001140640]|not provided [RCV001858918] |
Chr2:233760871 [GRCh38] Chr2:234669517 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.389dup (p.Leu130fs) |
duplication |
Crigler-Najjar syndrome type 1 [RCV001543696] |
Chr2:233760674..233760675 [GRCh38] Chr2:234669320..234669321 [GRCh37] Chr2:2q37.1 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV001263221] |
Chr2:233110452..243028452 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 |
copy number gain |
See cases [RCV001263052] |
Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.175G>T (p.Val59Phe) |
single nucleotide variant |
not provided [RCV001531353] |
Chr2:233760462 [GRCh38] Chr2:234669108 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.679dup (p.Tyr227fs) |
duplication |
not provided [RCV001382093] |
Chr2:233760963..233760964 [GRCh38] Chr2:234669609..234669610 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1305-15T>C |
single nucleotide variant |
not provided [RCV001508488] |
Chr2:233772247 [GRCh38] Chr2:234680893 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.380_381insGG (p.Cys127fs) |
insertion |
Crigler-Najjar syndrome type 1 [RCV001509551] |
Chr2:233760666..233760667 [GRCh38] Chr2:234669312..234669313 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_019076.5(UGT1A8):c.856-113C>T |
single nucleotide variant |
not provided [RCV001715892] |
Chr2:233766921 [GRCh38] Chr2:234675567 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.987+307A>G |
single nucleotide variant |
not provided [RCV001715863] |
Chr2:233767472 [GRCh38] Chr2:234676118 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-5794C>T |
single nucleotide variant |
not provided [RCV001694434] |
Chr2:233761240 [GRCh38] Chr2:234669886 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.1060T>G (p.Trp354Gly) |
single nucleotide variant |
UGT1A1-related disorder [RCV002280264] |
Chr2:233767912 [GRCh38] Chr2:234676558 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs) |
deletion |
not provided [RCV001784004] |
Chr2:233760365..233760378 [GRCh38] Chr2:234669011..234669024 [GRCh37] Chr2:2q37.1 |
pathogenic|likely pathogenic |
NM_000463.3(UGT1A1):c.1525TGT[1] (p.Cys510del) |
microsatellite |
not provided [RCV001811815] |
Chr2:233772482..233772484 [GRCh38] Chr2:234681128..234681130 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) |
copy number loss |
Chromosome 2q37 deletion syndrome [RCV002280739] |
Chr2:233227837..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.826G>C (p.Gly276Arg) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV001808119] |
Chr2:233761113 [GRCh38] Chr2:234669759 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) |
single nucleotide variant |
not provided [RCV001817729]|not specified [RCV003317533] |
Chr2:233768265 [GRCh38] Chr2:234676911 [GRCh37] Chr2:2q37.1 |
pathogenic|uncertain significance |
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg) |
single nucleotide variant |
not provided [RCV001817805] |
Chr2:233772338 [GRCh38] Chr2:234680984 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.996+2_996+5del |
deletion |
not provided [RCV001817728] |
Chr2:233767165..233767168 [GRCh38] Chr2:234675811..234675814 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs) |
deletion |
not provided [RCV001817750] |
Chr2:233767894 [GRCh38] Chr2:234676540 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs) |
microsatellite |
not provided [RCV001817823] |
Chr2:233760554..233760555 [GRCh38] Chr2:234669200..234669201 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr) |
single nucleotide variant |
not provided [RCV001817838] |
Chr2:233760817 [GRCh38] Chr2:234669463 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.471C>T (p.Ser157=) |
single nucleotide variant |
not provided [RCV001811725] |
Chr2:233760758 [GRCh38] Chr2:234669404 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.573del (p.Tyr192fs) |
deletion |
not provided [RCV001817998] |
Chr2:233760859 [GRCh38] Chr2:234669505 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.1155C>T (p.Gly385=) |
single nucleotide variant |
not provided [RCV002001719] |
Chr2:233768290 [GRCh38] Chr2:234676936 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.996+1G>A |
single nucleotide variant |
not provided [RCV001810760] |
Chr2:233767166 [GRCh38] Chr2:234675812 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.131T>A (p.Leu44His) |
single nucleotide variant |
not provided [RCV001811920] |
Chr2:233760418 [GRCh38] Chr2:234669064 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1-37.2(chr2:234390282-236327203) |
copy number loss |
not specified [RCV002053295] |
Chr2:234390282..236327203 [GRCh37] Chr2:2q37.1-37.2 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) |
copy number loss |
not specified [RCV002053285] |
Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
GRCh37/hg19 2q37.1-37.2(chr2:234613080-236824976) |
copy number loss |
not specified [RCV002053296] |
Chr2:234613080..236824976 [GRCh37] Chr2:2q37.1-37.2 |
uncertain significance |
NM_000463.3(UGT1A1):c.1568G>A (p.Arg523Gln) |
single nucleotide variant |
not provided [RCV002022208] |
Chr2:233772525 [GRCh38] Chr2:234681171 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q37.1(chr2:232215111-235593473) |
copy number loss |
not specified [RCV002053294] |
Chr2:232215111..235593473 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.865G>A (p.Glu289Lys) |
single nucleotide variant |
not provided [RCV001914047] |
Chr2:233767034 [GRCh38] Chr2:234675680 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.358T>C (p.Ser120Pro) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV001823558]|not provided [RCV003136180] |
Chr2:233760645 [GRCh38] Chr2:234669291 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) |
single nucleotide variant |
Bilirubin, serum level of, quantitative trait locus 1 [RCV002503572]|not provided [RCV001913560] |
Chr2:233760973 [GRCh38] Chr2:234669619 [GRCh37] Chr2:2q37.1 |
conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892) |
copy number loss |
not specified [RCV002053291] |
Chr2:228807574..235475892 [GRCh37] Chr2:2q36.3-37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
not provided [RCV002043643] |
Chr2:233760846 [GRCh38] Chr2:234669492 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.862-6796A>G |
single nucleotide variant |
not provided [RCV001924232] |
Chr2:233760238 [GRCh38] Chr2:234668884 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.849A>G (p.Gln283=) |
single nucleotide variant |
not provided [RCV001884798] |
Chr2:233761136 [GRCh38] Chr2:234669782 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1071A>G (p.Gln357=) |
single nucleotide variant |
not provided [RCV002051308] |
Chr2:233767923 [GRCh38] Chr2:234676569 [GRCh37] Chr2:2q37.1 |
likely benign|uncertain significance |
NM_000463.3(UGT1A1):c.977T>A (p.Leu326Ter) |
single nucleotide variant |
not provided [RCV001963056] |
Chr2:233767146 [GRCh38] Chr2:234675792 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1307A>G (p.Tyr436Cys) |
single nucleotide variant |
not provided [RCV002051536] |
Chr2:233772264 [GRCh38] Chr2:234680910 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1022G>A (p.Arg341Gln) |
single nucleotide variant |
Gilbert syndrome [RCV002221166]|not provided [RCV001936126] |
Chr2:233767874 [GRCh38] Chr2:234676520 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.643A>G (p.Ile215Val) |
single nucleotide variant |
not provided [RCV001935712] |
Chr2:233760930 [GRCh38] Chr2:234669576 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.578T>A (p.Val193Glu) |
single nucleotide variant |
not provided [RCV001994959] |
Chr2:233760865 [GRCh38] Chr2:234669511 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1361C>T (p.Pro454Leu) |
single nucleotide variant |
not provided [RCV002011633] |
Chr2:233772318 [GRCh38] Chr2:234680964 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.287G>A (p.Gly96Glu) |
single nucleotide variant |
not provided [RCV001875239] |
Chr2:233760574 [GRCh38] Chr2:234669220 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1475T>C (p.Ile492Thr) |
single nucleotide variant |
not provided [RCV001917540] |
Chr2:233772432 [GRCh38] Chr2:234681078 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.72dup (p.Ser25fs) |
duplication |
not provided [RCV001956317] |
Chr2:233760358..233760359 [GRCh38] Chr2:234669004..234669005 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.182C>G (p.Ala61Gly) |
single nucleotide variant |
Gilbert syndrome [RCV002221165]|not provided [RCV001884843] |
Chr2:233760469 [GRCh38] Chr2:234669115 [GRCh37] Chr2:2q37.1 |
likely pathogenic|uncertain significance |
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) |
single nucleotide variant |
not provided [RCV002015911]|not specified [RCV003323971] |
Chr2:233772420 [GRCh38] Chr2:234681066 [GRCh37] Chr2:2q37.1 |
likely pathogenic|uncertain significance |
NC_000002.11:g.(?_231033840)_(234978657_?)dup |
duplication |
Joubert syndrome 22 [RCV001877690]|Perlman syndrome [RCV001877689] |
Chr2:231033840..234978657 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1373C>T (p.Ala458Val) |
single nucleotide variant |
not provided [RCV001937913] |
Chr2:233772330 [GRCh38] Chr2:234680976 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1185T>G (p.Gly395=) |
single nucleotide variant |
not provided [RCV002206878] |
Chr2:233768320 [GRCh38] Chr2:234676966 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.900T>C (p.His300=) |
single nucleotide variant |
not provided [RCV002097912] |
Chr2:233767069 [GRCh38] Chr2:234675715 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.2_17del (p.Met1fs) |
deletion |
Gilbert syndrome [RCV002226966] |
Chr2:233760286..233760301 [GRCh38] Chr2:234668932..234668947 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.990T>C (p.Pro330=) |
single nucleotide variant |
not provided [RCV002160468] |
Chr2:233767159 [GRCh38] Chr2:234675805 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.917C>T (p.Ser306Phe) |
single nucleotide variant |
Gilbert syndrome [RCV002221190] |
Chr2:233767086 [GRCh38] Chr2:234675732 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.36C>T (p.Val12=) |
single nucleotide variant |
not provided [RCV002136316] |
Chr2:233760323 [GRCh38] Chr2:234668969 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1270G>T (p.Glu424Ter) |
single nucleotide variant |
Gilbert syndrome [RCV002221172] |
Chr2:233768405 [GRCh38] Chr2:234677051 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.200A>T (p.Tyr67Phe) |
single nucleotide variant |
Gilbert syndrome [RCV002221187] |
Chr2:233760487 [GRCh38] Chr2:234669133 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.492_493del (p.Leu166fs) |
deletion |
Gilbert syndrome [RCV002221188] |
Chr2:233760778..233760779 [GRCh38] Chr2:234669424..234669425 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.719G>A (p.Arg240Lys) |
single nucleotide variant |
Gilbert syndrome [RCV002221189] |
Chr2:233761006 [GRCh38] Chr2:234669652 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.757G>T (p.Val253Phe) |
single nucleotide variant |
not provided [RCV003110768] |
Chr2:233761044 [GRCh38] Chr2:234669690 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter) |
single nucleotide variant |
not provided [RCV003111951] |
Chr2:233772339 [GRCh38] Chr2:234680985 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1002del (p.Trp335fs) |
deletion |
not provided [RCV003115001] |
Chr2:233767854 [GRCh38] Chr2:234676500 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.107A>G (p.Asp36Gly) |
single nucleotide variant |
not provided [RCV003120145] |
Chr2:233760394 [GRCh38] Chr2:234669040 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.57G>A (p.Val19=) |
single nucleotide variant |
not provided [RCV003120153] |
Chr2:233760344 [GRCh38] Chr2:234668990 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.741A>G (p.Leu247=) |
single nucleotide variant |
not provided [RCV003120248] |
Chr2:233761028 [GRCh38] Chr2:234669674 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.510C>A (p.Phe170Leu) |
single nucleotide variant |
not provided [RCV003120353] |
Chr2:233760797 [GRCh38] Chr2:234669443 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1412C>T (p.Ala471Val) |
single nucleotide variant |
not provided [RCV002227344] |
Chr2:233772369 [GRCh38] Chr2:234681015 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1304+1G>T |
single nucleotide variant |
Gilbert syndrome [RCV002246803] |
Chr2:233768440 [GRCh38] Chr2:234677086 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.179T>C (p.Leu60Pro) |
single nucleotide variant |
Lucey-Driscoll syndrome [RCV003233061] |
Chr2:233760466 [GRCh38] Chr2:234669112 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1173G>A (p.Met391Ile) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV002290143] |
Chr2:233768308 [GRCh38] Chr2:234676954 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1208G>T (p.Arg403Leu) |
single nucleotide variant |
Crigler-Najjar syndrome type 1 [RCV002290144] |
Chr2:233768343 [GRCh38] Chr2:234676989 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.725del (p.Val242fs) |
deletion |
Crigler-Najjar syndrome type 1 [RCV002262166] |
Chr2:233761012 [GRCh38] Chr2:234669658 [GRCh37] Chr2:2q37.1 |
pathogenic |
GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1 |
copy number loss |
not provided [RCV002472410] |
Chr2:233642145..237654870 [GRCh37] Chr2:2q37.1-37.3 |
uncertain significance |
NM_000463.3(UGT1A1):c.1305-7T>A |
single nucleotide variant |
not provided [RCV002726545] |
Chr2:233772255 [GRCh38] Chr2:234680901 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1560A>G (p.Lys520=) |
single nucleotide variant |
not provided [RCV002993940] |
Chr2:233772517 [GRCh38] Chr2:234681163 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.164dup (p.His55fs) |
duplication |
not provided [RCV003033045] |
Chr2:233760450..233760451 [GRCh38] Chr2:234669096..234669097 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_001072.4(UGT1A6):c.862-6800AT[10] |
microsatellite |
not provided [RCV002617932] |
Chr2:233760233..233760234 [GRCh38] Chr2:234668879..234668880 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002860697] |
Chr2:233760531 [GRCh38] Chr2:234669177 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.149T>G (p.Leu50Arg) |
single nucleotide variant |
not provided [RCV002881101] |
Chr2:233760436 [GRCh38] Chr2:234669082 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.244C>G (p.Pro82Ala) |
single nucleotide variant |
not provided [RCV002902942] |
Chr2:233760531 [GRCh38] Chr2:234669177 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1389G>C (p.Glu463Asp) |
single nucleotide variant |
not provided [RCV003078743] |
Chr2:233772346 [GRCh38] Chr2:234680992 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1007G>T (p.Arg336Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002707874] |
Chr2:233767859 [GRCh38] Chr2:234676505 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.1084+4T>C |
single nucleotide variant |
not provided [RCV002619885] |
Chr2:233767940 [GRCh38] Chr2:234676586 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.596C>G (p.Ser199Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002707473] |
Chr2:233760883 [GRCh38] Chr2:234669529 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.997G>A (p.Val333Ile) |
single nucleotide variant |
not provided [RCV002592048] |
Chr2:233767849 [GRCh38] Chr2:234676495 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.111C>A (p.Gly37=) |
single nucleotide variant |
not provided [RCV003002110] |
Chr2:233760398 [GRCh38] Chr2:234669044 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1388A>T (p.Glu463Val) |
single nucleotide variant |
not provided [RCV002664287] |
Chr2:233772345 [GRCh38] Chr2:234680991 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1024C>T (p.Pro342Ser) |
single nucleotide variant |
not provided [RCV003083138] |
Chr2:233767876 [GRCh38] Chr2:234676522 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.673G>A (p.Val225Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002696837]|not provided [RCV003140153] |
Chr2:233760960 [GRCh38] Chr2:234669606 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.862-6792A>G |
single nucleotide variant |
not provided [RCV002574794] |
Chr2:233760242 [GRCh38] Chr2:234668888 [GRCh37] Chr2:2q37.1 |
benign |
NM_000463.3(UGT1A1):c.1581C>A (p.Ala527=) |
single nucleotide variant |
not provided [RCV003065690] |
Chr2:233772538 [GRCh38] Chr2:234681184 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.615del (p.Phe206fs) |
deletion |
not provided [RCV002651625] |
Chr2:233760901 [GRCh38] Chr2:234669547 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1084+12G>A |
single nucleotide variant |
not provided [RCV002583459] |
Chr2:233767948 [GRCh38] Chr2:234676594 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_000463.3(UGT1A1):c.1112C>T (p.Thr371Ile) |
single nucleotide variant |
not provided [RCV003072789] |
Chr2:233768247 [GRCh38] Chr2:234676893 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.793C>T (p.Pro265Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003212869] |
Chr2:233761080 [GRCh38] Chr2:234669726 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.677T>C (p.Val226Ala) |
single nucleotide variant |
not provided [RCV003139218] |
Chr2:233760964 [GRCh38] Chr2:234669610 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.695C>A (p.Thr232Asn) |
single nucleotide variant |
not provided [RCV003139219] |
Chr2:233760982 [GRCh38] Chr2:234669628 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.396_401del (p.His132_Lys134delinsGln) |
deletion |
not provided [RCV003139220] |
Chr2:233760682..233760687 [GRCh38] Chr2:234669328..234669333 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.355G>A (p.Asp119Asn) |
single nucleotide variant |
not provided [RCV003139221] |
Chr2:233760642 [GRCh38] Chr2:234669288 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.387C>G (p.His129Gln) |
single nucleotide variant |
not provided [RCV003139222] |
Chr2:233760674 [GRCh38] Chr2:234669320 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.354G>T (p.Lys118Asn) |
single nucleotide variant |
not provided [RCV003139223] |
Chr2:233760641 [GRCh38] Chr2:234669287 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.164A>G (p.His55Arg) |
single nucleotide variant |
not provided [RCV003139224] |
Chr2:233760451 [GRCh38] Chr2:234669097 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.706G>C (p.Glu236Gln) |
single nucleotide variant |
not provided [RCV003139225] |
Chr2:233760993 [GRCh38] Chr2:234669639 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.286G>A (p.Gly96Arg) |
single nucleotide variant |
not provided [RCV003139226] |
Chr2:233760573 [GRCh38] Chr2:234669219 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.300del (p.Phe100fs) |
deletion |
not provided [RCV003133071] |
Chr2:233760583 [GRCh38] Chr2:234669229 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_000463.3(UGT1A1):c.1156G>T (p.Val386Phe) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV003229498] |
Chr2:233768291 [GRCh38] Chr2:234676937 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1184G>T (p.Gly395Val) |
single nucleotide variant |
Crigler-Najjar syndrome [RCV003229499] |
Chr2:233768319 [GRCh38] Chr2:234676965 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala) |
single nucleotide variant |
not specified [RCV003324368] |
Chr2:233772426 [GRCh38] Chr2:234681072 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.395A>G (p.His132Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003357827] |
Chr2:233760682 [GRCh38] Chr2:234669328 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter) |
single nucleotide variant |
not specified [RCV003331868] |
Chr2:233772415 [GRCh38] Chr2:234681061 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 |
copy number gain |
not provided [RCV003484091] |
Chr2:225995545..237594511 [GRCh37] Chr2:2q36.2-37.3 |
pathogenic |
NM_001072.4(UGT1A6):c.862-6787_862-6786insGT |
insertion |
not provided [RCV003482470] |
Chr2:233760246..233760247 [GRCh38] Chr2:234668892..234668893 [GRCh37] Chr2:2q37.1 |
uncertain significance |
Single allele |
duplication |
not provided [RCV003448672] |
Chr2:230077026..243049549 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.254G>A (p.Arg85Lys) |
single nucleotide variant |
UGT1A1-related condition [RCV003420918] |
Chr2:233760541 [GRCh38] Chr2:234669187 [GRCh37] Chr2:2q37.1 |
uncertain significance |
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 |
copy number gain |
not provided [RCV003484087] |
Chr2:218376403..242783384 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.516G>T (p.Leu172Phe) |
single nucleotide variant |
not provided [RCV003481688] |
Chr2:233760803 [GRCh38] Chr2:234669449 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.862-6831_862-6829dup |
duplication |
UGT1A1-related condition [RCV003427827] |
Chr2:233760202..233760203 [GRCh38] Chr2:234668848..234668849 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp) |
single nucleotide variant |
Crigler-Najjar syndrome, type II [RCV003443186] |
Chr2:233760397 [GRCh38] Chr2:234669043 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1450T>C (p.Tyr484His) |
single nucleotide variant |
UGT1A1-related condition [RCV003408762] |
Chr2:233772407 [GRCh38] Chr2:234681053 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.614C>T (p.Thr205Ile) |
single nucleotide variant |
UGT1A1-related condition [RCV003412217] |
Chr2:233760901 [GRCh38] Chr2:234669547 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.506T>A (p.Val169Glu) |
single nucleotide variant |
UGT1A1-related condition [RCV003412363] |
Chr2:233760793 [GRCh38] Chr2:234669439 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1525T>G (p.Cys509Gly) |
single nucleotide variant |
UGT1A1-related condition [RCV003392826] |
Chr2:233772482 [GRCh38] Chr2:234681128 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.1405A>C (p.Lys469Gln) |
single nucleotide variant |
UGT1A1-related condition [RCV003406105] |
Chr2:233772362 [GRCh38] Chr2:234681008 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.418del (p.Leu140fs) |
deletion |
Crigler-Najjar syndrome, type II [RCV003388672] |
Chr2:233760703 [GRCh38] Chr2:234669349 [GRCh37] Chr2:2q37.1 |
likely pathogenic |