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 |
|---|---|---|---|---|---|
| 17 | 1 | 0 | 0 | 0 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | pathogenic | likely pathogenic | total |
|---|---|---|---|
| EPG5 | 7 | 0 | 7 |
| MAGEL2 | 4 | 0 | 4 |
| PTEN | 2 | 0 | 2 |
| AKT3 | 1 | 0 | 1 |
| MYCN, MYCNOS | 1 | 0 | 1 |
| PIK3R2 | 1 | 0 | 1 |
| SLC26A7 | 0 | 1 | 1 |
| STAMBP | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | total |
|---|---|---|---|
| Vici syndrome | 7 | 0 | 7 |
| Schaaf-Yang syndrome | 4 | 0 | 4 |
| Macrocephaly-autism syndrome | 2 | 0 | 2 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 2 | 0 | 2 |
| Congenital hypothyroidism | 0 | 1 | 1 |
| Megalencephaly-polydactyly syndrome | 1 | 0 | 1 |
| Microcephaly-capillary malformation syndrome | 1 | 0 | 1 |