If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 28 | 27 | 16 | 0 | 0 | 71 |
Gene and significance breakdown #
Total genes and gene combinations: 24
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SCN2A | 3 | 6 | 0 | 9 |
| KCNQ2 | 3 | 3 | 1 | 7 |
| SCN8A | 2 | 3 | 1 | 6 |
| STXBP1 | 5 | 0 | 0 | 5 |
| CDKL5 | 4 | 0 | 0 | 4 |
| GRIN2A | 0 | 0 | 4 | 4 |
| KCNT1 | 0 | 2 | 2 | 4 |
| LOC102724058, SCN1A | 3 | 1 | 0 | 4 |
| MECP2 | 2 | 2 | 0 | 4 |
| SCN1A | 3 | 1 | 0 | 4 |
| GABRB3 | 0 | 2 | 0 | 2 |
| GRIN2B | 0 | 0 | 2 | 2 |
| HCN1 | 0 | 2 | 0 | 2 |
| SNHG14, UBE3A | 1 | 1 | 0 | 2 |
| SPTAN1 | 1 | 1 | 0 | 2 |
| SYNGAP1 | 0 | 2 | 0 | 2 |
| ATP1A2 | 0 | 0 | 1 | 1 |
| CACNA1H | 0 | 0 | 1 | 1 |
| CDKL5, RS1 | 0 | 0 | 1 | 1 |
| DEPDC5 | 0 | 0 | 1 | 1 |
| GABRD | 0 | 0 | 1 | 1 |
| LOC114827831, STXBP1 | 1 | 0 | 0 | 1 |
| RPS6 | 0 | 0 | 1 | 1 |
| SEMA6B | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 11
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Epileptic encephalopathy | 20 | 15 | 9 | 44 |
| Focal epilepsy | 1 | 4 | 3 | 8 |
| Severe myoclonic epilepsy in infancy | 4 | 2 | 0 | 6 |
| Malignant migrating partial seizures of infancy | 1 | 2 | 0 | 3 |
| Angelman syndrome | 1 | 1 | 0 | 2 |
| Landau-Kleffner syndrome | 0 | 0 | 2 | 2 |
| Rett syndrome | 1 | 1 | 0 | 2 |
| Continuous spike and waves during slow sleep | 0 | 0 | 1 | 1 |
| Hemimegalencephaly | 0 | 0 | 1 | 1 |
| Intellectual disability, autosomal dominant 5 | 0 | 1 | 0 | 1 |
| Myoclonic-astatic epilepsy | 0 | 1 | 0 | 1 |