| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862402, KARS1 (R477H +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 89 | |
| | LOC126862402, KARS1 (L452fs +2 more) | Deletion (frameshift variant) | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more | |
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