| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Deletion (5 prime UTR variant +1 more) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC126859646, VARS2 (L613F +2 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Deletion (frameshift variant +2 more) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +2 more | |
| | | Single nucleotide variant (missense variant) | VARS2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation defect type 20 | |
| | LOC126859646, VARS2 (R512W +2 more) | Single nucleotide variant (missense variant) | See cases +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (splice acceptor variant) | Combined oxidative phosphorylation defect type 20 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | LOC126859646, VARS2 (A747T +2 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +2 more | GConflicting classifications of pathogenicity |
| | LOC126859646, VARS2 (L472fs +2 more) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | Combined oxidative phosphorylation defect type 20 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | LOC126859646, VARS2 (V680L +2 more) | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation defect type 20 +2 more | |
| | LOC126859646, VARS2 (T617M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 +2 more | |
| | LOC126859646, VARS2 (A626D +2 more) | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 20 | |