| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (nonsense +1 more) | Non-ketotic hyperglycinemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Glycine encephalopathy 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Glycine encephalopathy 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Non-ketotic hyperglycinemia | |
Click to view in NCBI Gene