| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FARS2, LOC126859565 (A154V) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GConflicting classifications of pathogenicity |
| | FARS2, LOC126859565 (A166V) | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 77 +2 more | GConflicting classifications of pathogenicity |
| | FARS2, LOC126859565 (D169V) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GConflicting classifications of pathogenicity |
| | FARS2, LOC126859565 (L172P) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | FARS2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 77 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
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