| | FARS2, LOC129995672
+1 more (K21N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FARS2, LOC129995672
+1 more (R14W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FARS2, LOC129995672
+1 more (L12V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | FARS2, LOC126859565 (H27R) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | FARS2, LOC126859565 (T43S) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | FARS2, LOC126859565 (P47S) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | FARS2, LOC126859565 (I89M) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GConflicting classifications of pathogenicity |
| | FARS2, LOC126859565 (Q100*) | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | FARS2, LOC126859565 (R104S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FARS2, LOC126859565 (P108L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | FARS2, LOC126859565 (N115S) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | GConflicting classifications of pathogenicity |
| | FARS2, LOC126859565 (T121K) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FARS2, LOC126859565 (P132L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FARS2, LOC126859565 (S137G) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | FARS2, LOC126859565 (D184N) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |