| | ALDH5A1, GPLD1 +1 more (L70P) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | ALDH5A1-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | ALDH5A1-related condition | |
| | | Duplication (inframe_insertion) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (S35C) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (L44fs) | Duplication (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Duplication (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Insertion (nonsense +1 more) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (P37S) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | GPLD1, LOC129995978 +1 more | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | LOC129995978, ALDH5A1 +1 more (A34V) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Copy number loss | not provided | |
| | | Deletion (frameshift variant) | ALDH5A1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH5A1, GPLD1 +1 more (G29fs) | Deletion (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (T75fs) | Duplication (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Deletion (frameshift variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (splice donor variant +1 more) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Duplication | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Deletion | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (Q43P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH5A1, LOC129995978 (A100P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (nonsense) | Inborn genetic diseases | |
| | ALDH5A1, GPLD1 +1 more (T75P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH5A1, GPLD1 +1 more (W69G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH5A1, GPLD1 +1 more (G16R) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, LOC129995978 (E114A) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (G29S) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, GPLD1 +1 more (A2V) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | ALDH5A1, LOC129995978 (E107G) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |