| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | GCDH-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | GCDH-related condition +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Glutaric aciduria, type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | GCDH-related condition | |
Click to view in NCBI Gene