| | | Single nucleotide variant (synonymous variant) | GLUL-related disorder | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (A191V) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (V197G) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (G156E) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (R181Q) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Duplication (splice donor variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GLUL, LOC126805944 (L139fs) | Deletion (frameshift variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (T116I) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (G172A) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Deletion (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | GLUL, LOC126805944 (R119W) | Single nucleotide variant (missense variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital brain dysgenesis due to glutamine synthetase deficiency +2 more | |