| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ALDH5A1, GPLD1
+1 more (C93F) | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Succinate-semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Succinate-semialdehyde dehydrogenase deficiency | GConflicting classifications of pathogenicity |
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