| Gene | Location | Variants | Zygosity | OMIM disease | Heritage | Variant classification |
| VARS2 (+) (ENST00000541562.5) | Exon 11 | C.1100C>T (p.Thr367IIe) | Homozygosity | Combined Oxidative Phosphorylation Deficiency-20 | Autosomal recessive | Pathogenic |