| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | D2HGDH, LOC129936032 (C36W) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Microsatellite (intron variant) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (missense variant +2 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (missense variant +2 more) | D-2-hydroxyglutaric aciduria 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (splice acceptor variant) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (missense variant +1 more) | D-2-hydroxyglutaric aciduria 1 +1 more | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | Chromosome 2q37 deletion syndrome | |
Click to view in NCBI Gene