| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | LOC130065980, SLC12A5
+1 more (S2N) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 34 +2 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +2 more | |
| | | Single nucleotide variant (missense variant) | SLC12A5-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 +2 more | GConflicting classifications of pathogenicity |