| | LOC130057816, LOC130057817 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111822949, LOC112272574 +664 more | Copy number gain | See cases | |
| | LOC130057971, LOC130057972 +630 more | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057962, LOC130057963 +517 more | Copy number gain | See cases | |
| | LOC130058025, LOC130058026 +500 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (stop lost) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | IDH2-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | Teratoma | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Duplication (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +2 more | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (splice donor variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | IDH2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 +3 more | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 +1 more | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 +1 more | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Duplication (frameshift variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | IDH2-related condition +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | D-2-hydroxyglutaric aciduria 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |