| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 +2 more | |
| | KARS1, LOC126862402 (A526V +2 more) | Single nucleotide variant (missense variant) | Leukodystrophy +4 more | GConflicting classifications of pathogenicity |
| | LOC126862402, KARS1 (R477H +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate B +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene