| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 4A | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nonsyndromic hearing loss 4A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | |
| | | Single nucleotide variant (synonymous variant) | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | |
| | | Deletion (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene