| | | Duplication | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | FARS2, LOC126859565 (R148W) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (H159Y) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Indel (splice acceptor variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | FARS2-Related Disorders | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | FARS2, LOC126859565 (A170V) | Single nucleotide variant (missense variant +1 more) | FARS2-related condition | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 77 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FARS2, LOC126859565 (H63N) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Duplication | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | | Deletion | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC129995672 +1 more (R14W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FARS2, LOC129995672 +1 more (L12V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (E95G) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (W87C) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (M151I) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC129995672 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (Q60*) | Single nucleotide variant (nonsense +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (L168fs) | Duplication (frameshift variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (L130F) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | LOC126859565, FARS2 (V51L) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (L130R) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 14 | |
| | FARS2, LOC126859565 (T149S) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 14 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 14 +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 14 | |