Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:35663546 | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Potential role of UGT pharmacogenetics in cancer treatment and prevention: focus on tamoxifen. | Lazarus P, etal., Ann N Y Acad Sci. 2009 Feb;1155:99-111. |
3. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
4. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
5. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
6. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
7. | Glucuronidation of monohydroxylated warfarin metabolites by human liver microsomes and human recombinant UDP-glucuronosyltransferases. | Zielinska A, etal., J Pharmacol Exp Ther. 2008 Jan;324(1):139-48. Epub 2007 Oct 5. |
PMID:2108603 | PMID:8467709 | PMID:9271343 | PMID:9295054 | PMID:9325166 | PMID:9647757 | PMID:10024527 | PMID:10497143 | PMID:10748067 | PMID:10836148 | PMID:11179432 | PMID:11434514 |
PMID:11465080 | PMID:11901093 | PMID:12477932 | PMID:12695339 | PMID:12847094 | PMID:12910533 | PMID:14672974 | PMID:15057901 | PMID:15117964 | PMID:15489334 | PMID:15618702 | PMID:16019943 |
PMID:16475821 | PMID:17179145 | PMID:17558305 | PMID:17603215 | PMID:18052087 | PMID:18161889 | PMID:18556656 | PMID:18570380 | PMID:18725508 | PMID:19244109 | PMID:19414484 | PMID:19419973 |
PMID:19898482 | PMID:19913121 | PMID:20007297 | PMID:20007669 | PMID:20056724 | PMID:20089735 | PMID:20297805 | PMID:20308471 | PMID:20379614 | PMID:20610558 | PMID:20628086 | PMID:20639394 |
PMID:20732626 | PMID:20800603 | PMID:20972438 | PMID:21646302 | PMID:21832049 | PMID:21846474 | PMID:21873635 | PMID:21886157 | PMID:22031623 | PMID:22085899 | PMID:22511988 | PMID:22558097 |
PMID:22659092 | PMID:23160818 | PMID:23281178 | PMID:23371916 | PMID:23642732 | PMID:24097068 | PMID:24163127 | PMID:24239897 | PMID:24625756 | PMID:24816252 | PMID:25246029 | PMID:25264962 |
PMID:25547628 | PMID:26186194 | PMID:26220143 | PMID:28514442 | PMID:29519853 | PMID:33961781 | PMID:35562734 |
UGT1A10 (Homo sapiens - human) |
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Ugt1a10 (Mus musculus - house mouse) |
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Variants in UGT1A10
422 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_019075.4(UGT1A10):c.53T>C (p.Leu18Pro) | single nucleotide variant | Inborn genetic diseases [RCV002748695] | Chr2:233636575 [GRCh38] Chr2:234545221 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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.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.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_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 |
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_019075.2(UGT1A10):c.855+38911C>T | single nucleotide variant | Lung cancer [RCV000091953] | Chr2:233676288 [GRCh38] Chr2:234584934 [GRCh37] Chr2:2q37.1 |
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_019075.2(UGT1A10):c.491C>T (p.Pro164Leu) | single nucleotide variant | Malignant melanoma [RCV000060516] | Chr2:233637013 [GRCh38] Chr2:234545659 [GRCh37] Chr2:234210398 [NCBI36] Chr2:2q37.1 |
not provided |
NM_019078.1(UGT1A5):c.459C>T (p.Pro153=) | single nucleotide variant | Malignant melanoma [RCV000060517] | Chr2:233713450 [GRCh38] Chr2:234622096 [GRCh37] Chr2:234286835 [NCBI36] Chr2:2q37.1 |
not provided |
NM_007120.2(UGT1A4):c.771C>T (p.Phe257=) | single nucleotide variant | Malignant melanoma [RCV000060518] | Chr2:233719591 [GRCh38] Chr2:234628237 [GRCh37] Chr2:234292976 [NCBI36] Chr2:2q37.1 |
not provided |
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_019075.2(UGT1A10):c.265G>A (p.Glu89Lys) | single nucleotide variant | Malignant melanoma [RCV000065475] | Chr2:233636787 [GRCh38] Chr2:234545433 [GRCh37] Chr2:234210172 [NCBI36] Chr2:2q37.1 |
not provided |
NM_019075.2(UGT1A10):c.838G>A (p.Gly280Arg) | single nucleotide variant | Malignant melanoma [RCV000065476] | Chr2:233637360 [GRCh38] Chr2:234546006 [GRCh37] Chr2:234210745 [NCBI36] Chr2:2q37.1 |
not provided |
NM_021027.2(UGT1A9):c.445C>T (p.Pro149Ser) | single nucleotide variant | Malignant melanoma [RCV000065477] | Chr2:233672379 [GRCh38] Chr2:234581025 [GRCh37] Chr2:234245764 [NCBI36] Chr2:2q37.1 |
not provided |
NM_001072.3(UGT1A6):c.278C>T (p.Ser93Leu) | single nucleotide variant | Malignant melanoma [RCV000065478] | Chr2:233693282 [GRCh38] Chr2:234601928 [GRCh37] Chr2:234266667 [NCBI36] Chr2:2q37.1 |
not provided |
NM_019078.1(UGT1A5):c.134G>A (p.Arg45Gln) | single nucleotide variant | Malignant melanoma [RCV000065479] | Chr2:233713125 [GRCh38] Chr2:234621771 [GRCh37] Chr2:234286510 [NCBI36] Chr2:2q37.1 |
not provided |
NM_019078.1(UGT1A5):c.572C>T (p.Ser191Phe) | single nucleotide variant | Malignant melanoma [RCV000065480] | Chr2:233713563 [GRCh38] Chr2:234622209 [GRCh37] Chr2:234286948 [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 |
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.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 |
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 |
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.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_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.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*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_001072.4(UGT1A6):c.862-8098= | single nucleotide variant | Lucey-Driscoll syndrome [RCV000013075] | Chr2:233758936 [GRCh38] Chr2:234667582 [GRCh37] Chr2:2q37.1 |
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.996+18C>T | single nucleotide variant | not provided [RCV001523096] | Chr2:233767183 [GRCh38] Chr2:234675829 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63766_855+63767delinsAA | indel | not provided [RCV001812622] | Chr2:233682328..233682329 [GRCh38] Chr2:234590974..234590975 [GRCh37] Chr2:2q37.1 |
benign |
NM_007120.3(UGT1A4):c.142T>G (p.Leu48Val) | single nucleotide variant | lamotrigine response - Other [RCV000211299] | Chr2:233718962 [GRCh38] Chr2:234627608 [GRCh37] Chr2:2q37.1 |
drug response |
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_019075.4(UGT1A10):c.855+34440del | deletion | SN-38 response - Other [RCV000211185] | Chr2:233671808 [GRCh38] Chr2:234580454 [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.855+45828G>A | single nucleotide variant | not specified [RCV000202759] | Chr2:233718617 [GRCh38] Chr2:234627263 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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 |
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.348G>C (p.Met116Ile) | single nucleotide variant | not provided [RCV000756864] | Chr2:233693352 [GRCh38] Chr2:234601998 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019076.5(UGT1A8):c.855+64203C>A | single nucleotide variant | not provided [RCV001811469] | Chr2:233682765 [GRCh38] Chr2:234591411 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.352G>T (p.Asp118Tyr) | single nucleotide variant | not provided [RCV000756866] | Chr2:233682289 [GRCh38] Chr2:234590935 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.565T>C (p.Tyr189His) | single nucleotide variant | not provided [RCV000756867] | Chr2:233682502 [GRCh38] Chr2:234591148 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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 |
NM_019078.2(UGT1A5):c.520A>G (p.Arg174Gly) | single nucleotide variant | Inborn genetic diseases [RCV003269773] | Chr2:233713511 [GRCh38] Chr2:234622157 [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.1060T>G (p.Trp354Gly) | single nucleotide variant | UGT1A1-related disorder [RCV002280264] | Chr2:233767912 [GRCh38] Chr2:234676558 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_007120.3(UGT1A4):c.11G>A (p.Gly4Glu) | single nucleotide variant | Inborn genetic diseases [RCV003268802] | Chr2:233718831 [GRCh38] Chr2:234627477 [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.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.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 |
Single allele | duplication | Crigler Najjar syndrome, type 1 [RCV000598144] | Chr2:234669555..234669558 [GRCh37] Chr2:2q37.1 |
pathogenic |
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.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.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.239_240insGTAC (p.Val81fs) | insertion | not specified [RCV001001244] | Chr2:233760525..233760526 [GRCh38] Chr2:234669171..234669172 [GRCh37] Chr2:2q37.1 |
pathogenic |
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.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.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 |
GRCh37/hg19 2q37.1(chr2:234651441-234652419)x1 | copy number loss | See cases [RCV000447946] | Chr2:234651441..234652419 [GRCh37] Chr2:2q37.1 |
benign|likely benign |
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 |
NM_019076.5(UGT1A8):c.855+63319T>G | single nucleotide variant | not provided [RCV001707715] | Chr2:233681881 [GRCh38] Chr2:234590527 [GRCh37] Chr2:2q37.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_019076.5(UGT1A8):c.856-73715A>G | single nucleotide variant | not provided [RCV001811013] | Chr2:233693319 [GRCh38] Chr2:234601965 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63766C>A | single nucleotide variant | not provided [RCV001539578] | Chr2:233682328 [GRCh38] Chr2:234590974 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+64131G>A | single nucleotide variant | not provided [RCV001709662] | Chr2:233682693 [GRCh38] Chr2:234591339 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-73478A>C | single nucleotide variant | not provided [RCV001811014] | Chr2:233693556 [GRCh38] Chr2:234602202 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63408C>A | single nucleotide variant | not provided [RCV001653878] | Chr2:233681970 [GRCh38] Chr2:234590616 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-73403G>T | single nucleotide variant | not provided [RCV001707714] | Chr2:233693631 [GRCh38] Chr2:234602277 [GRCh37] Chr2:2q37.1 |
benign |
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 |
NM_019076.5(UGT1A8):c.855+63767G>A | single nucleotide variant | not provided [RCV000946698] | Chr2:233682329 [GRCh38] Chr2:234590975 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-73489A>G | single nucleotide variant | not provided [RCV001811015] | Chr2:233693545 [GRCh38] Chr2:234602191 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-74011T>G | single nucleotide variant | not provided [RCV001811012] | Chr2:233693023 [GRCh38] Chr2:234601669 [GRCh37] Chr2:2q37.1 |
benign |
NM_205862.1(UGT1A6):c.61-6800_61-6799delAT | deletion | not specified [RCV000507576] | Chr2:233760234..233760235 [GRCh38] Chr2:234668880..234668881 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63997T>C | single nucleotide variant | not provided [RCV001692163] | Chr2:233682559 [GRCh38] Chr2:234591205 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63762T>G | single nucleotide variant | not provided [RCV001618721] | Chr2:233682324 [GRCh38] Chr2:234590970 [GRCh37] Chr2:2q37.1 |
benign |
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_021027.3(UGT1A9):c.769T>G (p.Phe257Val) | single nucleotide variant | Inborn genetic diseases [RCV003270552] | Chr2:233672703 [GRCh38] Chr2:234581349 [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_001072.4(UGT1A6):c.268C>T (p.Arg90Cys) | single nucleotide variant | Inborn genetic diseases [RCV003270422] | Chr2:233693272 [GRCh38] Chr2:234601918 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019075.4(UGT1A10):c.77G>A (p.Gly26Glu) | single nucleotide variant | Inborn genetic diseases [RCV003284931] | Chr2:233636599 [GRCh38] Chr2:234545245 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.62G>C (p.Gly21Ala) | single nucleotide variant | Inborn genetic diseases [RCV003260688] | Chr2:233636584 [GRCh38] Chr2:234545230 [GRCh37] Chr2:2q37.1 |
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_019078.2(UGT1A5):c.720G>C (p.Gln240His) | single nucleotide variant | Inborn genetic diseases [RCV003285499] | Chr2:233713711 [GRCh38] Chr2:234622357 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.523C>G (p.Pro175Ala) | single nucleotide variant | Inborn genetic diseases [RCV003243830] | Chr2:233693527 [GRCh38] Chr2:234602173 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.754G>T (p.Val252Phe) | single nucleotide variant | Inborn genetic diseases [RCV003256549] | Chr2:233693758 [GRCh38] Chr2:234602404 [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.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 |
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*1 | microsatellite | Irinotecan response [RCV000664402] | Chr2:233760235..233760248 [GRCh38] Chr2:234668881..234668894 [GRCh37] Chr2:2q37.1 |
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 |
GRCh37/hg19 2q37.1(chr2:234539809-234644190)x1 | copy number loss | not provided [RCV000682001] | Chr2:234539809..234644190 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019078.2(UGT1A5):c.695del (p.Ala232fs) | deletion | not provided [RCV000709907] | Chr2:233713686 [GRCh38] Chr2:234622332 [GRCh37] Chr2:2q37.1 |
likely benign|not provided |
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 |
GRCh37/hg19 2q37.1(chr2:234639310-234662263)x1 | copy number loss | not provided [RCV000740961] | Chr2:234639310..234662263 [GRCh37] Chr2:2q37.1 |
benign |
GRCh37/hg19 2q37.1(chr2:234648708-234658250)x1 | copy number loss | not provided [RCV000740962] | Chr2:234648708..234658250 [GRCh37] Chr2:2q37.1 |
benign |
NM_019078.2(UGT1A5):c.261C>T (p.Asp87=) | single nucleotide variant | not provided [RCV000960014] | Chr2:233713252 [GRCh38] Chr2:234621898 [GRCh37] Chr2:2q37.1 |
likely benign |
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_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_019076.5(UGT1A8):c.1296-229A>C | single nucleotide variant | not provided [RCV001681735] | Chr2:233772033 [GRCh38] Chr2:234680679 [GRCh37] Chr2:2q37.1 |
benign |
NM_019093.4(UGT1A3):c.473C>T (p.Ala158Val) | single nucleotide variant | not provided [RCV000971729] | Chr2:233729599 [GRCh38] Chr2:234638245 [GRCh37] Chr2:2q37.1 |
likely benign |
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_019078.2(UGT1A5):c.742C>A (p.Leu248Ile) | single nucleotide variant | not provided [RCV000949486] | Chr2:233713733 [GRCh38] Chr2:234622379 [GRCh37] Chr2:2q37.1 |
benign |
NM_019078.2(UGT1A5):c.745G>C (p.Val249Leu) | single nucleotide variant | not provided [RCV000949487] | Chr2:233713736 [GRCh38] Chr2:234622382 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.856-53268G>C | single nucleotide variant | not provided [RCV000949488] | Chr2:233713766 [GRCh38] Chr2:234622412 [GRCh37] Chr2:2q37.1 |
benign |
NM_019078.2(UGT1A5):c.783T>C (p.Phe261=) | single nucleotide variant | not provided [RCV000949489] | Chr2:233713774 [GRCh38] Chr2:234622420 [GRCh37] Chr2:2q37.1 |
benign |
NM_001072.4(UGT1A6):c.862-23412C>T | single nucleotide variant | not provided [RCV000903724] | Chr2:233743622 [GRCh38] Chr2:234652268 [GRCh37] Chr2:2q37.1 |
benign |
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_021027.3(UGT1A9):c.225G>A (p.Lys75=) | single nucleotide variant | Inborn genetic diseases [RCV003372923]|not provided [RCV000973231] | Chr2:233672159 [GRCh38] Chr2:234580805 [GRCh37] Chr2:2q37.1 |
benign|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.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.*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_001072.4(UGT1A6):c.105C>T (p.Asp35=) | single nucleotide variant | not provided [RCV001811562] | Chr2:233693109 [GRCh38] Chr2:234601755 [GRCh37] Chr2:2q37.1 |
benign |
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_019093.4(UGT1A3):c.-66T>C | single nucleotide variant | Levothyroxine response [RCV003317020] | Chr2:233729061 [GRCh38] Chr2:234637707 [GRCh37] Chr2:2q37.1 |
other |
NC_000002.12:g.233760235TA[5_11] | microsatellite | Levothyroxine response [RCV003317021] | Chr2:233760235..233760246 [GRCh38] Chr2:2q37.1 |
other |
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.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.389dup (p.Leu130fs) | duplication | Crigler-Najjar syndrome type 1 [RCV001543696] | Chr2:233760674..233760675 [GRCh38] Chr2:234669320..234669321 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_019078.2(UGT1A5):c.849C>T (p.Asn283=) | single nucleotide variant | not provided [RCV000887657] | Chr2:233713840 [GRCh38] Chr2:234622486 [GRCh37] Chr2:2q37.1 |
benign |
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.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 |
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.*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_019075.4(UGT1A10):c.597T>C (p.Asp199=) | single nucleotide variant | not provided [RCV000956056] | Chr2:233637119 [GRCh38] Chr2:234545765 [GRCh37] Chr2:2q37.1 |
benign |
NM_001072.4(UGT1A6):c.229A>G (p.Ile77Val) | single nucleotide variant | Inborn genetic diseases [RCV003276407] | Chr2:233693233 [GRCh38] Chr2:234601879 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019076.5(UGT1A8):c.856-6852T>C | single nucleotide variant | not provided [RCV001675212] | Chr2:233760182 [GRCh38] Chr2:234668828 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+51220C>T | single nucleotide variant | not provided [RCV001672009] | Chr2:233669782 [GRCh38] Chr2:234578428 [GRCh37] Chr2:2q37.1 |
benign |
NM_019076.5(UGT1A8):c.855+63270T>G | single nucleotide variant | not provided [RCV001713991] | Chr2:233681832 [GRCh38] Chr2:234590478 [GRCh37] Chr2:2q37.1 |
benign |
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_019076.5(UGT1A8):c.988-100_988-99dup | duplication | not provided [RCV001655533] | Chr2:233767747..233767748 [GRCh38] Chr2:234676393..234676394 [GRCh37] Chr2:2q37.1 |
benign |
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_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_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.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 |
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.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.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.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_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_001072.4(UGT1A6):c.146T>G (p.Leu49Arg) | single nucleotide variant | Inborn genetic diseases [RCV002549177]|not specified [RCV001002384] | Chr2:233693150 [GRCh38] Chr2:234601796 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.855+44828T>C | single nucleotide variant | not specified [RCV001002503] | Chr2:233682205 [GRCh38] Chr2:234590851 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019075.4(UGT1A10):c.855+44683G>A | single nucleotide variant | not specified [RCV001002262] | Chr2:233682060 [GRCh38] Chr2:234590706 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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.*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.864+2925T>G | single nucleotide variant | Gilbert syndrome [RCV000999561] | Chr2:233764076 [GRCh38] Chr2:234672722 [GRCh37] Chr2:2q37.1 |
benign |
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.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 |
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_001072.4(UGT1A6):c.861+35946G>C | single nucleotide variant | not provided [RCV001812447] | Chr2:233729811 [GRCh38] Chr2:234638457 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.554G>A (p.Ser185Asn) | single nucleotide variant | not provided [RCV001813138] | Chr2:233693558 [GRCh38] Chr2:234602204 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.557C>T (p.Pro186Leu) | single nucleotide variant | not provided [RCV001810694] | Chr2:233693561 [GRCh38] Chr2:234602207 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019075.4(UGT1A10):c.855+44822C>T | single nucleotide variant | not provided [RCV001812414] | Chr2:233682199 [GRCh38] Chr2:234590845 [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_001072.4(UGT1A6):c.214T>C (p.Tyr72His) | single nucleotide variant | not provided [RCV001813055] | Chr2:233693218 [GRCh38] Chr2:234601864 [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 |
GRCh37/hg19 2q37.1(chr2:234376144-234598991)x1 | copy number loss | not provided [RCV001834342] | Chr2:234376144..234598991 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019076.5(UGT1A8):c.855+63761A>G | single nucleotide variant | not provided [RCV001811829] | Chr2:233682323 [GRCh38] Chr2:234590969 [GRCh37] Chr2:2q37.1 |
likely benign |
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 |
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.573del (p.Tyr192fs) | deletion | not provided [RCV001817998] | Chr2:233760859 [GRCh38] Chr2:234669505 [GRCh37] Chr2:2q37.1 |
likely pathogenic |
NM_019075.4(UGT1A10):c.855+45231T>C | single nucleotide variant | not provided [RCV001811793] | Chr2:233682608 [GRCh38] Chr2:234591254 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.855+44982G>C | single nucleotide variant | not provided [RCV001812513] | Chr2:233682359 [GRCh38] Chr2:234591005 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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 |
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.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.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_001072.4(UGT1A6):c.159del (p.His54fs) | deletion | not provided [RCV001811952] | Chr2:233693163 [GRCh38] Chr2:234601809 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019076.5(UGT1A8):c.855+63761_855+63762delinsGG | indel | not provided [RCV001811847] | Chr2:233682323..233682324 [GRCh38] Chr2:234590969..234590970 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_019076.5(UGT1A8):c.855+63792G>C | single nucleotide variant | not provided [RCV001811691] | Chr2:233682354 [GRCh38] Chr2:234591000 [GRCh37] Chr2:2q37.1 |
likely benign |
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.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.826G>C (p.Gly276Arg) | single nucleotide variant | Crigler-Najjar syndrome, type II [RCV001808119] | Chr2:233761113 [GRCh38] Chr2:234669759 [GRCh37] Chr2:2q37.1 |
pathogenic |
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 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.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 |
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) | copy number loss | not specified [RCV002053285] | Chr2:219606537..239217703 [GRCh37] Chr2:2q35-37.3 |
pathogenic |
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 |
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 |
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.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.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 |
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.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.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 |
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.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.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_019075.4(UGT1A10):c.855+45414T>C | single nucleotide variant | not provided [RCV002227327] | Chr2:233682791 [GRCh38] Chr2:234591437 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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.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.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_019075.4(UGT1A10):c.855+44903G>A | single nucleotide variant | not provided [RCV002227389] | Chr2:233682280 [GRCh38] Chr2:234590926 [GRCh37] Chr2:2q37.1 |
likely benign |
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_001072.4(UGT1A6):c.18_19delinsTG (p.Ser7Ala) | indel | not provided [RCV003120189] | Chr2:233693022..233693023 [GRCh38] Chr2:234601668..234601669 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_019075.4(UGT1A10):c.855+45220C>T | single nucleotide variant | not provided [RCV003120198] | Chr2:233682597 [GRCh38] Chr2:234591243 [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_019075.4(UGT1A10):c.855+45435G>A | single nucleotide variant | not provided [RCV002227316] | Chr2:233682812 [GRCh38] Chr2:234591458 [GRCh37] Chr2:2q37.1 |
likely benign |
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.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.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(chr2:233227837-242783384) | copy number loss | Chromosome 2q37 deletion syndrome [RCV002280739] | Chr2:233227837..242783384 [GRCh37] Chr2:2q37.1-37.3 |
pathogenic |
NM_000463.3(UGT1A1):c.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.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.179T>C (p.Leu60Pro) | single nucleotide variant | Lucey-Driscoll syndrome [RCV003233061] | Chr2:233760466 [GRCh38] Chr2:234669112 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.217A>G (p.Thr73Ala) | single nucleotide variant | Inborn genetic diseases [RCV003304289] | Chr2:233672151 [GRCh38] Chr2:234580797 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.616A>G (p.Arg206Gly) | single nucleotide variant | Inborn genetic diseases [RCV003286571] | Chr2:233672550 [GRCh38] Chr2:234581196 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.827A>G (p.Asn276Ser) | single nucleotide variant | Inborn genetic diseases [RCV003260912] | Chr2:233682764 [GRCh38] Chr2:234591410 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019075.4(UGT1A10):c.586G>C (p.Gly196Arg) | single nucleotide variant | Inborn genetic diseases [RCV002840360] | Chr2:233637108 [GRCh38] Chr2:234545754 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_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_001072.4(UGT1A6):c.862-23503A>T | single nucleotide variant | Inborn genetic diseases [RCV002771704] | Chr2:233743531 [GRCh38] Chr2:234652177 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.140C>T (p.Ala47Val) | single nucleotide variant | Inborn genetic diseases [RCV002773821] | Chr2:233718960 [GRCh38] Chr2:234627606 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001072.4(UGT1A6):c.862-23200A>G | single nucleotide variant | Inborn genetic diseases [RCV002729286] | Chr2:233743834 [GRCh38] Chr2:234652480 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019075.4(UGT1A10):c.31C>G (p.Pro11Ala) | single nucleotide variant | Inborn genetic diseases [RCV002777900] | Chr2:233636553 [GRCh38] Chr2:234545199 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019078.2(UGT1A5):c.496T>C (p.Ser166Pro) | single nucleotide variant | Inborn genetic diseases [RCV002993203] | Chr2:233713487 [GRCh38] Chr2:234622133 [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_019077.3(UGT1A7):c.283G>A (p.Asp95Asn) | single nucleotide variant | Inborn genetic diseases [RCV002753124] | Chr2:233682220 [GRCh38] Chr2:234590866 [GRCh37] Chr2:2q37.1 |
likely benign |
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_019075.4(UGT1A10):c.649C>A (p.His217Asn) | single nucleotide variant | Inborn genetic diseases [RCV002879498] | Chr2:233637171 [GRCh38] Chr2:234545817 [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_019077.3(UGT1A7):c.172G>T (p.Val58Phe) | single nucleotide variant | Inborn genetic diseases [RCV002968415] | Chr2:233682109 [GRCh38] Chr2:234590755 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.346A>G (p.Met116Val) | single nucleotide variant | Inborn genetic diseases [RCV002974578] | Chr2:233729472 [GRCh38] Chr2:234638118 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.472G>A (p.Ala158Thr) | single nucleotide variant | Inborn genetic diseases [RCV002997302] | Chr2:233729598 [GRCh38] Chr2:234638244 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.158C>G (p.Ala53Gly) | single nucleotide variant | Inborn genetic diseases [RCV002882475] | Chr2:233718978 [GRCh38] Chr2:234627624 [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.1389G>C (p.Glu463Asp) | single nucleotide variant | not provided [RCV003078743] | Chr2:233772346 [GRCh38] Chr2:234680992 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.685G>T (p.Ala229Ser) | single nucleotide variant | Inborn genetic diseases [RCV002887283] | Chr2:233719505 [GRCh38] Chr2:234628151 [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_001072.4(UGT1A6):c.862-23551T>C | single nucleotide variant | Inborn genetic diseases [RCV002762868] | Chr2:233743483 [GRCh38] Chr2:234652129 [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_001072.4(UGT1A6):c.496C>T (p.Pro166Ser) | single nucleotide variant | Inborn genetic diseases [RCV002757898] | Chr2:233693500 [GRCh38] Chr2:234602146 [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_019093.4(UGT1A3):c.667A>G (p.Ile223Val) | single nucleotide variant | Inborn genetic diseases [RCV002759473] | Chr2:233729793 [GRCh38] Chr2:234638439 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.802A>C (p.Asn268His) | single nucleotide variant | Inborn genetic diseases [RCV002977991] | Chr2:233682739 [GRCh38] Chr2:234591385 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.154C>T (p.Arg52Trp) | single nucleotide variant | Inborn genetic diseases [RCV002759542] | Chr2:233693158 [GRCh38] Chr2:234601804 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.380C>G (p.Ser127Cys) | single nucleotide variant | Inborn genetic diseases [RCV002797814] | Chr2:233729506 [GRCh38] Chr2:234638152 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.782A>G (p.Tyr261Cys) | single nucleotide variant | Inborn genetic diseases [RCV002783196] | Chr2:233637304 [GRCh38] Chr2:234545950 [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_019077.3(UGT1A7):c.602T>A (p.Met201Lys) | single nucleotide variant | Inborn genetic diseases [RCV002983187] | Chr2:233682539 [GRCh38] Chr2:234591185 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.476C>T (p.Ala159Val) | single nucleotide variant | Inborn genetic diseases [RCV002987566] | Chr2:233719296 [GRCh38] Chr2:234627942 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.433G>C (p.Asp145His) | single nucleotide variant | Inborn genetic diseases [RCV002641271] | Chr2:233693437 [GRCh38] Chr2:234602083 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.691G>A (p.Ala231Thr) | single nucleotide variant | Inborn genetic diseases [RCV002854525] | Chr2:233637213 [GRCh38] Chr2:234545859 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019078.2(UGT1A5):c.13C>A (p.Leu5Ile) | single nucleotide variant | Inborn genetic diseases [RCV002696587] | Chr2:233713004 [GRCh38] Chr2:234621650 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.364T>C (p.Ser122Pro) | single nucleotide variant | Inborn genetic diseases [RCV002767210] | Chr2:233682301 [GRCh38] Chr2:234590947 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.53T>A (p.Leu18His) | single nucleotide variant | Inborn genetic diseases [RCV003003621] | Chr2:233718873 [GRCh38] Chr2:234627519 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_001072.4(UGT1A6):c.454G>A (p.Ala152Thr) | single nucleotide variant | Inborn genetic diseases [RCV002787594] | Chr2:233693458 [GRCh38] Chr2:234602104 [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_021027.3(UGT1A9):c.662A>G (p.His221Arg) | single nucleotide variant | Inborn genetic diseases [RCV002826162] | Chr2:233672596 [GRCh38] Chr2:234581242 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.70G>A (p.Glu24Lys) | single nucleotide variant | Inborn genetic diseases [RCV002743391] | Chr2:233672004 [GRCh38] Chr2:234580650 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.636G>T (p.Met212Ile) | single nucleotide variant | Inborn genetic diseases [RCV002827294] | Chr2:233682573 [GRCh38] Chr2:234591219 [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_019093.4(UGT1A3):c.850A>G (p.Arg284Gly) | single nucleotide variant | Inborn genetic diseases [RCV002984958] | Chr2:233729976 [GRCh38] Chr2:234638622 [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_001072.4(UGT1A6):c.371T>A (p.Ile124Asn) | single nucleotide variant | Inborn genetic diseases [RCV002789040] | Chr2:233693375 [GRCh38] Chr2:234602021 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.293A>G (p.His98Arg) | single nucleotide variant | Inborn genetic diseases [RCV003004282] | Chr2:233693297 [GRCh38] Chr2:234601943 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.397T>A (p.Leu133Ile) | single nucleotide variant | Inborn genetic diseases [RCV002747563] | Chr2:233672331 [GRCh38] Chr2:234580977 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.530C>G (p.Ser177Cys) | single nucleotide variant | Inborn genetic diseases [RCV002940001] | Chr2:233693534 [GRCh38] Chr2:234602180 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019093.4(UGT1A3):c.298T>C (p.Tyr100His) | single nucleotide variant | Inborn genetic diseases [RCV002940990] | Chr2:233729424 [GRCh38] Chr2:234638070 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_000463.3(UGT1A1):c.615del (p.Phe206fs) | deletion | not provided [RCV002651625] | Chr2:233760901 [GRCh38] Chr2:234669547 [GRCh37] Chr2:2q37.1 |
pathogenic |
NM_019075.4(UGT1A10):c.634G>C (p.Val212Leu) | single nucleotide variant | Inborn genetic diseases [RCV002808134] | Chr2:233637156 [GRCh38] Chr2:234545802 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.623G>A (p.Arg208Gln) | single nucleotide variant | Inborn genetic diseases [RCV002670558] | Chr2:233693627 [GRCh38] Chr2:234602273 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.463T>G (p.Leu155Val) | single nucleotide variant | Inborn genetic diseases [RCV002934573] | Chr2:233672397 [GRCh38] Chr2:234581043 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.28G>A (p.Val10Ile) | single nucleotide variant | Inborn genetic diseases [RCV002648256] | Chr2:233636550 [GRCh38] Chr2:234545196 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.68C>A (p.Ala23Asp) | single nucleotide variant | Inborn genetic diseases [RCV002832179] | Chr2:233682005 [GRCh38] Chr2:234590651 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.275A>T (p.His92Leu) | single nucleotide variant | Inborn genetic diseases [RCV002808653] | Chr2:233729401 [GRCh38] Chr2:234638047 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_019077.3(UGT1A7):c.676A>G (p.Asn226Asp) | single nucleotide variant | Inborn genetic diseases [RCV002656389] | Chr2:233682613 [GRCh38] Chr2:234591259 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_007120.3(UGT1A4):c.32G>A (p.Arg11Gln) | single nucleotide variant | Inborn genetic diseases [RCV003175466] | Chr2:233718852 [GRCh38] Chr2:234627498 [GRCh37] Chr2:2q37.1 |
likely benign |
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_007120.3(UGT1A4):c.751T>C (p.Tyr251His) | single nucleotide variant | Inborn genetic diseases [RCV003201749] | Chr2:233719571 [GRCh38] Chr2:234628217 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_019077.3(UGT1A7):c.467T>C (p.Ile156Thr) | single nucleotide variant | Inborn genetic diseases [RCV003190732] | Chr2:233682404 [GRCh38] Chr2:234591050 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019078.2(UGT1A5):c.160A>G (p.Arg54Gly) | single nucleotide variant | Inborn genetic diseases [RCV003218715] | Chr2:233713151 [GRCh38] Chr2:234621797 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.476A>G (p.Lys159Arg) | single nucleotide variant | Inborn genetic diseases [RCV003189218] | Chr2:233682413 [GRCh38] Chr2:234591059 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.377G>A (p.Ser126Asn) | single nucleotide variant | Inborn genetic diseases [RCV003183895] | Chr2:233672311 [GRCh38] Chr2:234580957 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.274G>A (p.Val92Ile) | single nucleotide variant | Inborn genetic diseases [RCV003184174] | Chr2:233719094 [GRCh38] Chr2:234627740 [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_019093.4(UGT1A3):c.235A>T (p.Thr79Ser) | single nucleotide variant | Inborn genetic diseases [RCV003210623] | Chr2:233729361 [GRCh38] Chr2:234638007 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.257A>G (p.Gln86Arg) | single nucleotide variant | Inborn genetic diseases [RCV003191709] | Chr2:233719077 [GRCh38] Chr2:234627723 [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_007120.3(UGT1A4):c.745G>C (p.Val249Leu) | single nucleotide variant | Inborn genetic diseases [RCV003180254] | Chr2:233719565 [GRCh38] Chr2:234628211 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_001072.4(UGT1A6):c.124A>G (p.Met42Val) | single nucleotide variant | Inborn genetic diseases [RCV003180212] | Chr2:233693128 [GRCh38] Chr2:234601774 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.295G>C (p.Gly99Arg) | single nucleotide variant | Inborn genetic diseases [RCV003211837] | Chr2:233719115 [GRCh38] Chr2:234627761 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.348T>G (p.Ile116Met) | single nucleotide variant | Inborn genetic diseases [RCV003218621] | Chr2:233719168 [GRCh38] Chr2:234627814 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.517G>A (p.Gly173Ser) | single nucleotide variant | Inborn genetic diseases [RCV003200964] | Chr2:233693521 [GRCh38] Chr2:234602167 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.334A>G (p.Arg112Gly) | single nucleotide variant | Inborn genetic diseases [RCV003202061] | Chr2:233719154 [GRCh38] Chr2:234627800 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_001072.4(UGT1A6):c.206A>G (p.Glu69Gly) | single nucleotide variant | Inborn genetic diseases [RCV003194574] | Chr2:233693210 [GRCh38] Chr2:234601856 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_021027.3(UGT1A9):c.524A>G (p.His175Arg) | single nucleotide variant | Inborn genetic diseases [RCV003178332] | Chr2:233672458 [GRCh38] Chr2:234581104 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019075.4(UGT1A10):c.370T>C (p.Cys124Arg) | single nucleotide variant | Inborn genetic diseases [RCV003214969] | Chr2:233636892 [GRCh38] Chr2:234545538 [GRCh37] Chr2:2q37.1 |
uncertain significance |
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_019078.2(UGT1A5):c.380C>G (p.Ser127Cys) | single nucleotide variant | Inborn genetic diseases [RCV003264943] | Chr2:233713371 [GRCh38] Chr2:234622017 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.131T>A (p.Met44Lys) | single nucleotide variant | Inborn genetic diseases [RCV003263498] | Chr2:233729257 [GRCh38] Chr2:234637903 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.827T>C (p.Ile276Thr) | single nucleotide variant | Inborn genetic diseases [RCV003339989] | Chr2:233729953 [GRCh38] Chr2:234638599 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019078.2(UGT1A5):c.773G>A (p.Arg258Gln) | single nucleotide variant | Inborn genetic diseases [RCV003356884] | Chr2:233713764 [GRCh38] Chr2:234622410 [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_019078.2(UGT1A5):c.23C>T (p.Pro8Leu) | single nucleotide variant | Inborn genetic diseases [RCV003379326] | Chr2:233713014 [GRCh38] Chr2:234621660 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.512G>T (p.Gly171Val) | single nucleotide variant | Inborn genetic diseases [RCV003343249] | Chr2:233672446 [GRCh38] Chr2:234581092 [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 |
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 |
NM_001072.4(UGT1A6):c.831C>G (p.Ile277Met) | single nucleotide variant | Inborn genetic diseases [RCV003348386] | Chr2:233693835 [GRCh38] Chr2:234602481 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019077.3(UGT1A7):c.782A>G (p.Tyr261Cys) | single nucleotide variant | Inborn genetic diseases [RCV003356349] | Chr2:233682719 [GRCh38] Chr2:234591365 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.29C>T (p.Pro10Leu) | single nucleotide variant | Inborn genetic diseases [RCV003354127] | Chr2:233729155 [GRCh38] Chr2:234637801 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_021027.3(UGT1A9):c.224A>G (p.Lys75Arg) | single nucleotide variant | Inborn genetic diseases [RCV003366036] | Chr2:233672158 [GRCh38] Chr2:234580804 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_019093.4(UGT1A3):c.275A>G (p.His92Arg) | single nucleotide variant | Inborn genetic diseases [RCV003376005] | Chr2:233729401 [GRCh38] Chr2:234638047 [GRCh37] Chr2:2q37.1 |
uncertain significance |
NM_007120.3(UGT1A4):c.150G>C (p.Glu50Asp) | single nucleotide variant | not provided [RCV003457323] | Chr2:233718970 [GRCh38] Chr2:234627616 [GRCh37] Chr2:2q37.1 |
likely benign |
NM_021027.3(UGT1A9):c.98T>C (p.Met33Thr) | single nucleotide variant | not provided [RCV003440240] | Chr2:233672032 [GRCh38] Chr2:234580678 [GRCh37] Chr2:2q37.1 |
benign |
NM_019093.4(UGT1A3):c.804A>G (p.Pro268=) | single nucleotide variant | not provided [RCV003440243] | Chr2:233729930 [GRCh38] Chr2:234638576 [GRCh37] Chr2:2q37.1 |
likely benign |
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 |
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 |
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 |
Single allele | duplication | not provided [RCV003448672] | Chr2:230077026..243049549 [GRCh37] Chr2:2q36.3-37.3 |
pathogenic |
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_007120.3(UGT1A4):c.42A>G (p.Thr14=) | single nucleotide variant | not provided [RCV003440241] | Chr2:233718862 [GRCh38] Chr2:234627508 [GRCh37] Chr2:2q37.1 |
likely benign |
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_007120.3(UGT1A4):c.699T>C (p.Ser233=) | single nucleotide variant | not provided [RCV003440242] | Chr2:233719519 [GRCh38] Chr2:234628165 [GRCh37] Chr2:2q37.1 |
likely benign |
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 |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
AFMB341XG5 |
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RH48302 |
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GDB:511416 |
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SHGC-147389 |
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ECD00887 |
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ECD00911 |
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ECD00965 |
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ECD01243 |
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ECD01304 |
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ECD01675 |
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ECD02017 |
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ECD02203 |
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ECD02295 |
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ECD02375 |
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ECD02604 |
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ECD02665 |
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ECD02766 |
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ECD02911 |
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ECD03385 |
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ECD03538 |
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ECD03723 |
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ECD03788 |
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ECD04094 |
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ECD04316 |
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ECD04554 |
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ECD04621 |
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ECD04663 |
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ECD04933 |
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ECD05295 |
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ECD05537 |
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ECD05663 |
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ECD05707 |
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ECD06470 |
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ECD06626 |
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ECD06823 |
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ECD06873 |
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UGT1A10_9802 |
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D2S2843 |
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stSG620146 |
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||||||||||||||||||||||||||||||||||||||||||||||||||
REN46414 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | |
High | |||||||||||||||
Medium | 392 | 10 | 12 | 92 | 13 | 3 | 21 | 4 | 11 | 3 | |||||
Low | 467 | 3 | 23 | 49 | 67 | 23 | 119 | 12 | 14 | 27 | 42 | 21 | 31 | 2 | 32 |
Below cutoff | 373 | 225 | 326 | 170 | 236 | 133 | 939 | 199 | 221 | 100 | 410 | 222 | 38 | 97 | 498 |
RefSeq Transcripts | NG_002601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_019075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC006985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC019072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF297093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK025403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY435137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC020971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC053576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC069210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U39550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U89508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000344644 ⟹ ENSP00000343838 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000373445 ⟹ ENSP00000362544 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_019075 ⟹ NP_061948 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
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Sequence: |
Protein RefSeqs | NP_061948 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA80547 | (Get FASTA) | NCBI Sequence Viewer |
AAB81537 | (Get FASTA) | NCBI Sequence Viewer | |
AAF03522 | (Get FASTA) | NCBI Sequence Viewer | |
AAG30417 | (Get FASTA) | NCBI Sequence Viewer | |
AAH20971 | (Get FASTA) | NCBI Sequence Viewer | |
AAH53576 | (Get FASTA) | NCBI Sequence Viewer | |
AAH69210 | (Get FASTA) | NCBI Sequence Viewer | |
AAR95638 | (Get FASTA) | NCBI Sequence Viewer | |
EAW71058 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000343838 | ||
ENSP00000343838.5 | |||
ENSP00000362544.1 | |||
GenBank Protein | Q9HAW8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061948 ⟸ NM_019075 |
- Peptide Label: | precursor |
- UniProtKB: | Q6NT91 (UniProtKB/Swiss-Prot), O00474 (UniProtKB/Swiss-Prot), Q7Z6H8 (UniProtKB/Swiss-Prot), Q9HAW8 (UniProtKB/Swiss-Prot), Q5DT02 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000362544 ⟸ ENST00000373445 |
RefSeq Acc Id: | ENSP00000343838 ⟸ ENST00000344644 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9HAW8-F1-model_v2 | AlphaFold | Q9HAW8 | 1-530 | view protein structure |
RGD ID: | 6863140 | ||||||||
Promoter ID: | EPDNEW_H4735 | ||||||||
Type: | initiation region | ||||||||
Name: | UGT1A10_1 | ||||||||
Description: | UDP glucuronosyltransferase family 1 member A10 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4736 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6863142 | ||||||||
Promoter ID: | EPDNEW_H4736 | ||||||||
Type: | initiation region | ||||||||
Name: | UGT1A10_2 | ||||||||
Description: | UDP glucuronosyltransferase family 1 member A10 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H4735 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:12531 | AgrOrtholog |
COSMIC | UGT1A10 | COSMIC |
Ensembl Genes | ENSG00000242515 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000344644 | ENTREZGENE |
ENST00000344644.10 | UniProtKB/Swiss-Prot | |
ENST00000373445.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | Glycogen Phosphorylase B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000242515 | GTEx |
HGNC ID | HGNC:12531 | ENTREZGENE |
Human Proteome Map | UGT1A10 | Human Proteome Map |
InterPro | UDP_glucos_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UDP_glycos_trans_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:54575 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 54575 | ENTREZGENE |
OMIM | 606435 | OMIM |
PANTHER | EG:EG0003.4 PROTEIN-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UDP GLUCURONOSYLTRANSFERASE 1 FAMILY, POLYPEPTIDE A7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | UDPGT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37174 | PharmGKB, RGD |
PROSITE | UDPGT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | UDP-Glycosyltransferase/glycogen phosphorylase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | O00474 | ENTREZGENE |
Q5DT02 | ENTREZGENE, UniProtKB/TrEMBL | |
Q6NT91 | ENTREZGENE | |
Q7Z6H8 | ENTREZGENE | |
Q9HAW8 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | O00474 | UniProtKB/Swiss-Prot |
Q6NT91 | UniProtKB/Swiss-Prot | |
Q7Z6H8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-03-07 | UGT1A10 | UDP glucuronosyltransferase family 1 member A10 | UGT1A10 | UDP glucuronosyltransferase 1 family, polypeptide A10 | Symbol and/or name change | 5135510 | APPROVED |