| | | Copy number loss | See cases | |
| | LOC129932075, LOC129932076 +560 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ANGPTL1, APOBEC4 +455 more | Copy number loss | See cases | |
| | LOC129388668, LOC129388669 +477 more | Copy number loss | See cases | |
| | | 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) | 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 | |
| | | 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 | |
| | | 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 | |
| | | 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) | not provided +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 | |
| | | Single nucleotide variant (synonymous variant) | GLUL-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |