| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | DHTKD1, LOC130003343 (P35L) | Single nucleotide variant (missense variant) | 2-aminoadipic 2-oxoadipic aciduria +2 more | |
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases | |
Click to view in NCBI Gene