| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| L-2-Hydroxyglutaric Aciduria (L2HGDH) | cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability | Autosomal Recessive | 14q22.1 | Missense | L2HGDH | 178G>A | Gly60Arg | Amino Acid Substitution | 0/Ullah et al., 2018 |
| L-2-Hydroxyglutaric Aciduria (L2HGDH) | L-2-hydroxyglutaric aciduria | Autosomal Recessive | 14q21.3 | Deletion | L2HGDH | c.180delG | p.(Ala62Profs*24) | Premature Stop Codon | Muzammal et al., 2022/2022 |
