Total 19 pathogenic variants reported for Crigler-Najjar syndrome type 1

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)	SNV Germline	Chr2:233768259	Pathogenic	Crigler-Najjar syndrome type 1 Condition: not provided Crigler-Najjar syndrome	Criteria Provided Multiple Submitters No Conflicts	CA122007	rs_72551353	3 SubmittersRCV000013054 RCV001851815 RCV003387719
NM_000463.3(UGT1A1):c.991C>T (p.Gln331Ter)	SNV Germline	Chr2:233767160	Pathogenic	Crigler-Najjar syndrome type 1	No Assertion Criteria Provided	CA122017	rs_111033539	1 SubmittersRCV000013055
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)	SNV Germline	Chr2:233767873	Pathogenic	Crigler-Najjar syndrome type 1 Gilbert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122029	rs_72551349	6 SubmittersRCV000013056 RCV000013057 RCV001818151
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)	SNV Germline	Chr2:233767092	Pathogenic/Likely pathogenic	Crigler-Najjar syndrome type 1 Gilbert syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA122054	rs_62625011	4 SubmittersRCV000013060 RCV002247330 RCV003114188
NM_000463.3(UGT1A1):c.840C>A (p.Cys280Ter)	SNV Germline	Chr2:233761127	Pathogenic	Crigler-Najjar syndrome type 1	No Assertion Criteria Provided	CA122065	rs_281865418	1 SubmittersRCV000013061
NM_000463.3(UGT1A1):c.864+1G>C	SNV Germline	Chr2:233761152	Pathogenic	Crigler-Najjar syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA122073	rs_587776764	2 SubmittersRCV000013068 RCV000731416
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter)	SNV Germline	Chr2:233760432	Pathogenic	Crigler-Najjar syndrome type 1	No Assertion Criteria Provided	CA122074	rs_587776765	1 SubmittersRCV000013069
NM_000463.3(UGT1A1):c.1085-2A>G	SNV Germline	Chr2:233768218	Pathogenic	Crigler-Najjar syndrome type 1	No Assertion Criteria Provided	CA122077	rs_587776766	1 SubmittersRCV000013070
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)	SNV Germline	Chr2:233772413	Pathogenic/Likely pathogenic	Crigler-Najjar syndrome, type II Lucey-Driscoll syndrome Hyperbilirubinemia Crigler-Najjar syndrome type 1 Gilbert syndrome Lucey-Driscoll syndrome Crigler-Najjar syndrome, type II Bilirubin, serum level of, quantitative trait locus 1 Gilbert syndrome Condition: not provided UGT1A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122080	rs_34993780	11 SubmittersRCV000013074 RCV000013073 RCV000147900 RCV000763480 RCV000999563 RCV001810853 RCV004540998
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)	SNV Germline	Chr2:233760331	Likely pathogenic	Crigler-Najjar syndrome, type II Condition: not provided Crigler-Najjar syndrome, type II Lucey-Driscoll syndrome Crigler-Najjar syndrome type 1 Bilirubin, serum level of, quantitative trait locus 1 Gilbert syndrome	Criteria Provided Single Submitter	CA122115	rs_111033541	4 SubmittersRCV000013081 RCV001529911 RCV002496334
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu)	SNV Germline	Chr2:233772309	Conflicting classifications of pathogenicity	Condition: not provided Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome type 1 Lucey-Driscoll syndrome Crigler-Najjar syndrome, type II Gilbert syndrome	Criteria Provided Conflicting Classifications	CA245929	rs_114982090	4 SubmittersRCV000178772 RCV002478593
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu)	SNV Germline	Chr2:233760973	Conflicting classifications of pathogenicity	Condition: not provided Crigler-Najjar syndrome type 1 Bilirubin, serum level of, quantitative trait locus 1 Crigler-Najjar syndrome, type II Lucey-Driscoll syndrome Gilbert syndrome	Criteria Provided Conflicting Classifications		rs_35350960	3 SubmittersRCV001913560 RCV002503572