| | | Deletion | L-2-hydroxyglutaric aciduria | |
| | | Deletion | 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 (splice donor variant +1 more) | L-2-hydroxyglutaric aciduria | |
| | | Microsatellite (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice donor 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 (synonymous 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 (synonymous 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 (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous 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 (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 (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron 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 | |
| | | Deletion (splice donor variant +1 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Indel (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | L-2-hydroxyglutaric aciduria | |
| | | Deletion | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron 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 (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | L-2-hydroxyglutaric aciduria +1 more | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | 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 | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (nonsense) | 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) | 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 | |
| | | Single nucleotide variant (splice donor variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron 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 (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant +2 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron 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 (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Deletion (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (missense variant +2 more) | 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 +2 more) | 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 +2 more) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (synonymous variant) | L-2-hydroxyglutaric aciduria | |
| | | Duplication (intron variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (intron variant) | L-2-hydroxyglutaric aciduria | |