| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC122861320, LOC122889004 +347 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088830, LOC132088831 +576 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935990, LOC129935991 +361 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | UGT1A1-related condition | |
| | | Single nucleotide variant (intron variant) | UGT1A9-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | irinotecan response - Toxicity | |
| | | Single nucleotide variant (intron variant) | UGT1A1-related condition | |
| | | Single nucleotide variant (intron variant) | Lucey-Driscoll syndrome | |
| | | Single nucleotide variant (intron variant) | UGT1A1-related condition +1 more | |
| | | Duplication (intron variant) | UGT1A1-related condition | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity; drug response |
| | | Microsatellite (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity; drug response; other |
| | | Microsatellite (intron variant) | Irinotecan response +2 more | |
| | | Microsatellite | Levothyroxine response | |
| | | Insertion (intron variant) | UGT1A1-Related Disorders +1 more | |
| | | Microsatellite (intron variant) | Irinotecan response | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | UGT1A1-related condition +1 more | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (M1fs) | Deletion (frameshift variant +2 more) | Gilbert syndrome | |
| | UGT1A6, UGT1A7 +8 more (G7S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition | |
| | UGT1A, UGT1A1 +8 more (G8R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (R9C) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | UGT1A3, UGT1A9 +8 more (L15R) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome, type II +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | UGT1A, UGT1A1 +8 more (S25fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition | |
| | UGT1A, UGT1A1 +8 more (A27fs) | Deletion (intron variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | UGT1A, UGT1A1 +8 more (I30T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | UGT1A1, UGT1A3 +8 more (D36G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (G37V) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (G37D) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome, type II | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (W40R) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (S42N) | Single nucleotide variant (missense variant +1 more) | UGT1A1-related condition | |
| | UGT1A8, UGT1A9 +8 more (L44H) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (A46V) | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hyperbilirubinemia | |
| | UGT1A10, UGT1A3 +8 more (Q48E) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +3 more | |
| | UGT1A1, UGT1A3 +8 more (Q49*) | Single nucleotide variant (nonsense +1 more) | Crigler-Najjar syndrome type 1 | |
| | UGT1A, UGT1A1 +8 more (L50R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | UGT1A, UGT1A1 +8 more (H55fs) | Duplication (intron variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (H55R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A5, UGT1A6 +8 more (E56A) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome +3 more | |
| | UGT1A3, UGT1A4 +8 more (V59F) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (L60P) | Single nucleotide variant (missense variant +1 more) | Lucey-Driscoll syndrome | |
| | UGT1A, UGT1A1 +8 more (A61G) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition +4 more | GConflicting classifications of pathogenicity |
| | UGT1A, UGT1A1 +8 more (S65L) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | UGT1A1-related condition | |
| | UGT1A, UGT1A1 +8 more (Y67F) | Single nucleotide variant (missense variant +1 more) | Gilbert syndrome | |
| | UGT1A, UGT1A1 +8 more (D70E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (G71R) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity; drug response |
| | UGT1A, UGT1A1 +8 more (Y74*) | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | UGT1A10, UGT1A3 +8 more (P80fs) | Insertion (frameshift variant +1 more) | not provided +2 more | |
| | UGT1A3, UGT1A10 +8 more (P82S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | UGT1A, UGT1A1 +8 more (P82A) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (R85K) | Single nucleotide variant (missense variant +1 more) | UGT1A1-related condition | |
| | UGT1A, UGT1A1 +8 more (E90fs) | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | UGT1A5, UGT1A6 +8 more (G96R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A4, UGT1A1 +8 more (G96E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 |
| | UGT1A, UGT1A1 +8 more (F100fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Crigler-Najjar syndrome +3 more | |
| | UGT1A, UGT1A1 +8 more (R108C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | UGT1A, UGT1A1 +8 more (V109A) | Single nucleotide variant (missense variant +1 more) | UGT1A1-related condition +4 more | GConflicting classifications of pathogenicity |
| | UGT1A8, UGT1A9 +8 more (D119fs) | Duplication (frameshift variant +1 more) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | UGT1A, UGT1A1 +8 more (K118N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (D119N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A1 +8 more (S120P) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome, type II +1 more | |
| | UGT1A10, UGT1A7 +8 more (A121P) | Single nucleotide variant (missense variant +1 more) | Crigler-Najjar syndrome +2 more | |
| | UGT1A, UGT1A1 +8 more (C127fs) | Insertion (intron variant +1 more) | Crigler-Najjar syndrome type 1 | |
| | UGT1A, UGT1A1 +8 more (H129R) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | UGT1A, UGT1A1 +8 more (H129Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A5, UGT1A10 +8 more (L130fs) | Duplication (frameshift variant +1 more) | Crigler-Najjar syndrome type 1 | |