| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | |
Click to view in NCBI Gene