| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lessel-Kreienkamp syndrome +1 more | GConflicting classifications of pathogenicity |
| | AGO2, LOC126860545 (R196*) | Single nucleotide variant (nonsense) | Lessel-Kreienkamp syndrome | |
| | | Single nucleotide variant (missense variant) | Lessel-Kreienkamp syndrome | |
Click to view in NCBI Gene