| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935990, LOC129935991 +361 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | UGT1A7, UGT1A8 +3 more (N129K) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | UGT1A9, UGT1A10 +3 more (R131Q) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | UGT1A, UGT1A10 +3 more (W208R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | UGT1A, UGT1A10 +5 more (G259R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | UGT1A1-related condition +1 more | |
| | | Microsatellite (intron variant) | Irinotecan response +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 | |
| | UGT1A, UGT1A1 +8 more (G71R) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity; drug response |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | UGT1A, UGT1A8 +8 more (G362S +4 more) | Single nucleotide variant (missense variant) | UGT1A1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | UGT1A5, UGT1A6 +8 more (P361L +4 more) | Single nucleotide variant (missense variant) | UGT1A1-related condition +8 more | GConflicting classifications of pathogenicity; other |
| | | Single nucleotide variant (intron variant) | not provided | |
| | UGT1A4, UGT1A5 +8 more (R442C +4 more) | Single nucleotide variant (missense variant) | Crigler-Najjar syndrome type 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |