| | | Single nucleotide variant (missense variant +1 more) | 2-aminoadipic 2-oxoadipic aciduria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Variation (no sequence alteration) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2Q | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Duplication (frameshift variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Deletion (nonsense) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | 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) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Deletion (frameshift variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria | |
| | | Duplication (frameshift variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria | |