| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | not provided | |
| | LOC130065979, SLC12A5 +1 more | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | LOC130065980, SLC12A5 +1 more (S2N) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 34 +2 more | |
| | LOC130065980, SLC12A5 +1 more (R3H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130065980, SLC12A5 +1 more (P11R) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC130065980, SLC12A5 +1 more (P12A) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC130065980, SLC12A5 +1 more (R24H) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC130065980, SLC12A5 +1 more (R25Q) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130065980, SLC12A5 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC130065980, SLC12A5 +1 more (G36E) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | LOC130065980, SLC12A5 +1 more (V39D) | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | LOC130065980, SLC12A5 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | LOC130065980, SLC12A5 +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Insertion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Duplication (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense 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 (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 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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) | not specified +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (splice donor 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 (intron variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 34 +1 more | |
| | | 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 (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense 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 (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (missense variant) | SLC12A5-related disorder | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 34 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 34 | |