Total 38 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 SubmittersRCV000013054RCV001851815RCV003387719
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/Likely pathogenic Crigler-Najjar syndrome type 1
Gilbert syndrome
Condition: not provided
UGT1A1-related disorder
Gilbert syndrome
Crigler-Najjar syndrome type 1
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122029 rs_72551349

11 SubmittersRCV000013056RCV000013057RCV001818151RCV004737145RCV005016257
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
UGT1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122054 rs_62625011

6 SubmittersRCV000013060RCV002247330RCV003114188RCV004737146
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.686C>A (p.Pro229Gln) SNV
Germline		 Chr2:233760973 Conflicting classifications of pathogenicity; other Gilbert syndrome
Crigler-Najjar syndrome, type II
not specified
Condition: not provided
UGT1A1-related disorder
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome type 1
Gilbert syndrome		 Criteria Provided
Conflicting Classifications
 CA122068 rs_35350960

12 SubmittersRCV000013062RCV000013063RCV000147905RCV000299521RCV004532328RCV004795399RCV005394147
NM_000463.3(UGT1A1):c.864+1G>C SNV
Germline		 Chr2:233761152 Pathogenic/Likely pathogenic Crigler-Najjar syndrome type 1
Condition: not provided
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122073 rs_587776764

3 SubmittersRCV000013068RCV000731416RCV005025047
NM_000463.3(UGT1A1):c.145C>T (p.Gln49Ter) SNV
Germline		 Chr2:233760432 Likely pathogenic Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter
 CA122074 rs_587776765

2 SubmittersRCV000013069RCV005025048
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
Condition: not provided
Gilbert syndrome
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Lucey-Driscoll syndrome
Gilbert syndrome
Crigler-Najjar syndrome type 1
UGT1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122080 rs_34993780

14 SubmittersRCV000013074RCV000013073RCV000147900RCV001810853RCV000763480RCV000999563RCV004760329RCV004540998
NM_000463.3(UGT1A1):c.524T>A (p.Leu175Gln) SNV
Germline		 Chr2:233760811 Likely pathogenic; other Crigler-Najjar syndrome, type II
Condition: not provided
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
UGT1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122102 rs_72551341

6 SubmittersRCV000013078RCV000726992RCV005025049RCV004532329
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
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter
 CA122115 rs_111033541

4 SubmittersRCV000013081RCV001529911RCV002496334
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) SNV
Germline		 Chr2:233760428 Conflicting classifications of pathogenicity Hyperbilirubinemia
not specified
Condition: not provided
Crigler-Najjar syndrome
Lucey-Driscoll syndrome
Gilbert syndrome
UGT1A1-related disorder
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
Crigler-Najjar syndrome type 1
Gilbert syndrome		 Criteria Provided
Conflicting Classifications
 CA173861 rs_34526305

8 SubmittersRCV000147898RCV000383880RCV000963286RCV001139759RCV001139758RCV001139760RCV004532663RCV005394503
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) SNV
Germline		 Chr2:233760961 Conflicting classifications of pathogenicity; other Hyperbilirubinemia
Gilbert syndrome
Lucey-Driscoll syndrome
Crigler-Najjar syndrome
Crigler-Najjar syndrome type 1
Condition: not provided
Inborn genetic diseases
UGT1A1-related disorder
not specified
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
Crigler-Najjar syndrome type 1
Gilbert syndrome		 Criteria Provided
Conflicting Classifications
 CA173883 rs_35003977

17 SubmittersRCV000147904RCV000313763RCV000396791RCV000348706RCV001004164RCV000592026RCV002514850RCV004532664RCV005237580RCV005252769RCV005394504
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) SNV
Germline		 Chr2:233772309 Conflicting classifications of pathogenicity Condition: not provided
Gilbert syndrome
Crigler-Najjar syndrome type 1
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
UGT1A1-related disorder		 Criteria Provided
Conflicting Classifications
 CA245929 rs_114982090

5 SubmittersRCV000178772RCV002478593RCV004737281
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp) SNV
Germline		 Chr2:233760912 Pathogenic/Likely pathogenic Crigler-Najjar syndrome
Inborn genetic diseases
Crigler-Najjar syndrome, type II
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Condition: not provided
UGT1A1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2179856 rs_72551343

6 SubmittersRCV000503589RCV000623653RCV001727734RCV005018862RCV002508784RCV004527613
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) SNV
Germline		 Chr2:233760973 Conflicting classifications of pathogenicity Condition: not provided
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Crigler-Najjar syndrome, type II
Crigler-Najjar syndrome type 1
Lucey-Driscoll syndrome		 Criteria Provided
Conflicting Classifications
 CA2179870 rs_35350960

3 SubmittersRCV001913560RCV002503572
NM_000463.3(UGT1A1):c.1304+1G>T SNV
Germline		 Chr2:233768440 Pathogenic/Likely pathogenic Gilbert syndrome
Crigler-Najjar syndrome type 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
Gilbert syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351075158 rs_2126038220

2 SubmittersRCV002246803RCV005017162
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter) SNV
Germline		 Chr2:233772339 Pathogenic/Likely pathogenic Condition: not provided
Crigler-Najjar syndrome type 1
Gilbert syndrome
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351076157 rs_1424603943

2 SubmittersRCV003111951RCV005021796
NM_000463.3(UGT1A1):c.247T>C (p.Phe83Leu) SNV
Germline		 Chr2:233760534 Pathogenic/Likely pathogenic Gilbert syndrome
Crigler-Najjar syndrome type 1		 Criteria Provided
Single Submitter
 rs_56059937

1 SubmittersRCV004577298RCV004771551
NM_000463.3(UGT1A1):c.864+5G>T SNV
Germline		 Chr2:233761156 Likely pathogenic UGT1A1-related disorder
Crigler-Najjar syndrome type 1
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
Lucey-Driscoll syndrome
Gilbert syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV004737723RCV005023695
NM_000463.3(UGT1A1):c.16C>T (p.Gln6Ter) SNV
Germline		 Chr2:233760303 Likely pathogenic Crigler-Najjar syndrome type 1
Gilbert syndrome
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005020870
NM_000463.3(UGT1A1):c.847C>T (p.Gln283Ter) SNV
Germline		 Chr2:233761134 Pathogenic Crigler-Najjar syndrome type 1
Gilbert syndrome
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005020872
NM_000463.3(UGT1A1):c.864+1G>A SNV
Germline		 Chr2:233761152 Likely pathogenic Crigler-Najjar syndrome type 1
Gilbert syndrome
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005024351
NM_000463.3(UGT1A1):c.1305-1G>A SNV
Germline		 Chr2:233772261 Pathogenic Crigler-Najjar syndrome type 1
Gilbert syndrome
Lucey-Driscoll syndrome
Crigler-Najjar syndrome, type II
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005020875