NM_000463.3(UGT1A1):c.1124C>T (p.Ser375Phe)Pathogenic
Crigler-Najjar syndrome type 1|not provided|Crigler-Najjar syndrome
β
β
ββ2025β Residue 375
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)Pathogenic
Crigler-Najjar syndrome type 1|Gilbert syndrome|not provided|UGT1A1-related disorder
β
β
ββ2025β Residue 308
NM_000463.3(UGT1A1):c.1220del (p.Lys407fs)Pathogenic
not provided|Crigler-Najjar syndrome, type II|Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Gilbert syndrome;Crigler-Najjar syndrome type 1
β
β
ββ2025β Residue 407
NM_000463.3(UGT1A1):c.80_93del (p.Ala27fs)Pathogenic
not provided|UGT1A1-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 27
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)Pathogenic
Crigler-Najjar syndrome, type II|Lucey-Driscoll syndrome|Hyperbilirubinemia|Gilbert syndrome;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1|Gilbert syndrome|not provided|UGT1A1-related disorder|Crigler-Najjar syndrome type 1
β
β
ββ2025β Residue 486
NM_000463.3(UGT1A1):c.1007G>A (p.Arg336Gln)Pathogenic
not provided|Crigler-Najjar syndrome type 1;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Gilbert syndrome;Crigler-Najjar syndrome, type II
β
β
ββ2025β Residue 336
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)Pathogenic
Crigler-Najjar syndrome|Inborn genetic diseases|Crigler-Najjar syndrome, type II|not provided|UGT1A1-related disorder|Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome type 1
β
β
ββ2025β Residue 209
NM_000463.3(UGT1A1):c.1160_1161delinsGT (p.Pro387Arg)Likely pathogenic
not provided|UGT1A1-related disorder|Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Crigler-Najjar syndrome type 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II
β
β
ββ2025β Residue 387
NM_000463.3(UGT1A1):c.609_632del (p.His203_Lys211delinsGln)Pathogenic
Crigler-Najjar syndrome|not provided
β
β
ββ2025β Residue 203
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp)Pathogenic
Crigler-Najjar syndrome|not provided
β
β
ββ2025β Residue 336
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)Pathogenic
Hyperbilirubinemia|not provided|Crigler-Najjar syndrome type 1|UGT1A1-related disorder
β
β
ββ2025β Residue 241
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)Pathogenic
Crigler-Najjar syndrome|not provided
β
β
ββ2025β Residue 74
NM_000463.3(UGT1A1):c.1305-1G>APathogenic
Crigler-Najjar syndrome type 1;Gilbert syndrome;Crigler-Najjar syndrome, type II;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome|not provided
β
β
ββ2025
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)Pathogenic
Crigler-Najjar syndrome type 1|Gilbert syndrome|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
β
β
ββ2025β Residue 341
NM_000463.3(UGT1A1):c.1382G>A (p.Trp461Ter)Pathogenic
not provided|BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Crigler-Najjar syndrome type 1;Gilbert syndrome
β
β
ββ2025β Residue 461
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)Pathogenic
not provided|UGT1A1-related disorder
β
β
ββ2025β Residue 461
NM_000463.3(UGT1A1):c.300del (p.Phe100fs)Likely pathogenic
not provided|Crigler-Najjar syndrome type 1;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome;Crigler-Najjar syndrome, type II;Gilbert syndrome
β
β
ββ2024β Residue 100
NM_000463.3(UGT1A1):c.864+1G>CPathogenic
Crigler-Najjar syndrome type 1|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
β
β
ββ2024
NM_000463.3(UGT1A1):c.1304+1G>TPathogenic
Gilbert syndrome|Crigler-Najjar syndrome type 1;Crigler-Najjar syndrome, type II;Gilbert syndrome;BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1;Lucey-Driscoll syndrome
β
β
ββ2024
NM_000463.3(UGT1A1):c.510CTT[1] (p.Phe171del)Pathogenic
Crigler-Najjar syndrome type 1|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
β
β
ββ2024β Residue 171