| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Non-ketotic hyperglycinemia +1 more | |
| | | Deletion (frameshift variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Deletion (inframe_deletion +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Indel (frameshift variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Microsatellite (inframe_deletion +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (nonsense +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +2 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Deletion (nonsense +1 more) | Non-ketotic hyperglycinemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (nonsense +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (nonsense +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Microsatellite (inframe_deletion +1 more) | Non-ketotic hyperglycinemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Microsatellite (frameshift variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Duplication (frameshift variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Deletion (frameshift variant +1 more) | Non-ketotic hyperglycinemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Duplication (frameshift variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (missense variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Non-ketotic hyperglycinemia | |
| | | Duplication (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Duplication (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Non-ketotic hyperglycinemia | |
| | | Single nucleotide variant (intron variant) | Glycine encephalopathy 2 | |
| | | Duplication (splice donor variant) | Non-ketotic hyperglycinemia | |