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 |
|---|---|---|---|---|---|
| 18 | 3 | 13 | 0 | 0 | 34 |
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| PHKA2 | 3 | 2 | 1 | 6 |
| CEP290 | 4 | 0 | 0 | 4 |
| RPGRIP1 | 4 | 0 | 0 | 4 |
| USH2A | 0 | 0 | 3 | 3 |
| AHI1 | 2 | 0 | 0 | 2 |
| CRB1 | 2 | 0 | 0 | 2 |
| NPHP4 | 0 | 0 | 2 | 2 |
| PHKG2 | 1 | 1 | 0 | 2 |
| FANCA | 1 | 0 | 0 | 1 |
| FSCN2 | 0 | 0 | 1 | 1 |
| GUCA1B | 0 | 0 | 1 | 1 |
| IQCB1 | 1 | 0 | 0 | 1 |
| LOC100507291, RBP1 | 0 | 0 | 1 | 1 |
| LRP5 | 0 | 0 | 1 | 1 |
| NPHP1 | 0 | 0 | 1 | 1 |
| NPHP3, NPHP3-ACAD11 | 0 | 0 | 1 | 1 |
| RIMS1 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 9
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Leber congenital amaurosis | 0 | 0 | 12 | 12 |
| Glycogen storage disease type IXa1 | 3 | 2 | 1 | 6 |
| Leber congenital amaurosis 10 | 4 | 0 | 0 | 4 |
| Leber congenital amaurosis 6 | 4 | 0 | 0 | 4 |
| Glycogen storage disease IXc | 1 | 1 | 0 | 2 |
| Joubert syndrome 3 | 2 | 0 | 0 | 2 |
| Leber congenital amaurosis 8 | 2 | 0 | 0 | 2 |
| Fanconi anemia, complementation group A | 1 | 0 | 0 | 1 |
| Senior-Loken syndrome 5 | 1 | 0 | 0 | 1 |