| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KYNU, LOC126806361 +1 more | Deletion | Catel-Manzke syndrome | |
| | | Single nucleotide variant (missense variant) | Catel-Manzke syndrome | |
| | | Single nucleotide variant (missense variant) | Catel-Manzke syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene