| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | LOC130008616, LOC130008617 +712 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Deletion (inframe deletion) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (splice donor variant) | DAO-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | DAO-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | DAO-related condition | |
| | | Single nucleotide variant (synonymous variant) | DAO-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DAO-related condition | |
| | | Single nucleotide variant (missense variant) | DAO-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | DAO-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | DAO-related condition +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |