| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | |
| | | Single nucleotide variant (intron variant) | DHTKD1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | |
| | | Single nucleotide variant (missense variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (nonsense) | DHTKD1-related condition +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant) | DHTKD1-related condition +1 more | |
| | | Deletion (frameshift variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (splice donor variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | DHTKD1-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | GConflicting classifications of pathogenicity |