| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | L2HGDH, LINC01588 +30 more | Deletion | L-2-hydroxyglutaric aciduria | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +1 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice donor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria +1 more | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (nonsense) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice donor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria +1 more | |