| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126859651, VARS1 (R241W) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | |
| | LOC126859651, VARS1 (L204P) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | |
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