| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935990, LOC129935991 +361 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806577, LOC126806578 +334 more | Copy number loss | See cases | |
| | LOC110120803, LOC110121201 +334 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935986, LOC129935987 +314 more | Copy number loss | See cases | |
| | LOC129936018, LOC129936019 +311 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806573, LOC126806574 +288 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Chromosome 2q37 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935988, LOC129935989 +235 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935961, LOC129935962 +143 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC01238, LINC01880 +127 more | Copy number loss | See cases | |
| | LOC132088835, LOC132088836 +96 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936031 (R4fs) | Duplication (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936031 (R4L) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936031 (P10L) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936031 (R15G) | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936031 (W24*) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D2HGDH-related condition +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936032 (A32V) | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | D2HGDH, LOC129936032 (R33C) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | D2HGDH, LOC129936032 (G35N) | Indel (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936032 (C36F) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936032 (C36W) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | LOC129936032, D2HGDH (R55P) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936032 (R55Q) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | D2HGDH, LOC129936032 (S63C) | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | D-2-hydroxyglutaric aciduria 1 | |