| | | Deletion (frameshift variant) | Abdominal distention +8 more | |
| | | Copy number loss | See cases | |
| | LOC129932082, LOC129932083 +561 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932021, LOC129932022 +478 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 69 | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Duplication (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Indel (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Insertion (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Deletion (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Deletion (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Duplication (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Microsatellite (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Duplication (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more | |
| | | Duplication (3 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |