| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 89 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | KARS1, LOC126862402 (E297Q +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (intron variant) | not provided +4 more | |
| | KARS1, LOC126862402 (A526V +2 more) | Single nucleotide variant (missense variant) | Leukodystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | | Leukoencephalopathy +1 more | |
| | LOC126862402, KARS1 (R477H +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate B +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, progressive, infantile-onset, with or without deafness +1 more | GConflicting classifications of pathogenicity |