| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HARS2, LOC119407423 (C24*) | Single nucleotide variant (nonsense +2 more) | Sensorineural hearing loss disorder | |
| | | Single nucleotide variant (missense variant +1 more) | HARS2-related disorder | |
| | | Indel (nonsense +1 more) | Sensorineural hearing loss disorder | |
| | | Single nucleotide variant (missense variant) | Perrault syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene