| | UGT1A, UGT1A1 +8 more (R9C) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition +6 more | GConflicting classifications of pathogenicity |
| | UGT1A10, UGT1A3 +8 more (Q48E) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +3 more | |
| | UGT1A5, UGT1A6 +8 more (E56A) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition +4 more | GConflicting classifications of pathogenicity |
| | UGT1A, UGT1A1 +8 more (G71R) | Single nucleotide variant (intron variant +1 more) | Crigler-Najjar syndrome, type II +4 more | GConflicting classifications of pathogenicity; drug response |
| | | Single nucleotide variant (synonymous variant +1 more) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Crigler-Najjar syndrome +3 more | |
| | UGT1A, UGT1A1 +8 more (V109A) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | UGT1A10, UGT1A7 +8 more (A121P) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome +2 more | |
| | UGT1A, UGT1A1 +8 more (H129R) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant +1 more) | Lucey-Driscoll syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Crigler-Najjar syndrome +4 more | GConflicting classifications of pathogenicity |
| | UGT1A, UGT1A1 +8 more (V193M) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome +4 more | |
| | UGT1A, UGT1A1 +8 more (R195K) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | UGT1A, UGT1A1 +8 more (V225G) | Single nucleotide variant (missense variant +1 more) | UGT1A1-related condition +6 more | GConflicting classifications of pathogenicity; other |
| | UGT1A, UGT1A1 +8 more (Q245*) | Single nucleotide variant (nonsense +1 more) | UGT1A1-Related Disorders | |
| | UGT1A1, UGT1A10 +8 more (S250P) | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | UGT1A10, UGT1A3 +8 more (C280G) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +3 more | |
| | UGT1A, UGT1A1 +8 more (I322V +4 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | UGT1A, UGT1A1 +8 more (P361L +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome type 1 +8 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | UGT1A3, UGT1A4 +8 more (F126L +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome +2 more | |
| | UGT1A4, UGT1A5 +8 more (N400D +4 more) | Single nucleotide variant (missense variant) | UGT1A1-Related Disorders | |
| | UGT1A6, UGT1A7 +8 more (M441T +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome +4 more | |
| | UGT1A, UGT1A1 +8 more (R442C +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Crigler-Najjar syndrome +2 more | |
| | UGT1A, UGT1A1 +8 more (A468T +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Crigler-Najjar syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Lucey-Driscoll syndrome +2 more | |
| | UGT1A, UGT1A1 +8 more (K515N +4 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Gilbert syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Lucey-Driscoll syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Gilbert syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Crigler-Najjar syndrome +2 more | |
| | | Duplication | not provided | |