| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| | | Deletion | Combined deficiency of sialidase AND beta galactosidase | |
| | LOC130065980, SLC12A5 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | SLC12A5-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | SLC12A5-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Duplication (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |