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 |
|---|---|---|---|---|---|
| 24 | 20 | 13 | 0 | 0 | 57 |
Gene and significance breakdown #
Total genes and gene combinations: 25
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| JAG1 | 2 | 6 | 0 | 8 |
| PHKA2 | 3 | 2 | 1 | 6 |
| PYGL | 1 | 5 | 0 | 6 |
| ABCB11 | 2 | 2 | 0 | 4 |
| CEP290 | 4 | 0 | 0 | 4 |
| RPGRIP1 | 4 | 0 | 0 | 4 |
| AHI1 | 2 | 0 | 0 | 2 |
| CRB1 | 2 | 0 | 0 | 2 |
| NPHP4 | 0 | 0 | 2 | 2 |
| PHKG2 | 1 | 1 | 0 | 2 |
| USH2A | 0 | 0 | 2 | 2 |
| VPS33B | 0 | 2 | 0 | 2 |
| COPB2-DT, RBP1 | 0 | 0 | 1 | 1 |
| FANCA | 1 | 0 | 0 | 1 |
| FSCN2 | 0 | 0 | 1 | 1 |
| GUCA1B | 0 | 0 | 1 | 1 |
| IQCB1 | 1 | 0 | 0 | 1 |
| LOC122152296, USH2A | 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 |
| SLC25A13 | 1 | 0 | 0 | 1 |
| SMARCA4 | 0 | 1 | 0 | 1 |
| WFS1 | 0 | 1 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 16
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Leber congenital amaurosis | 0 | 0 | 12 | 12 |
| Alagille syndrome due to a JAG1 point mutation | 2 | 6 | 0 | 8 |
| Glycogen storage disease IXa1 | 3 | 2 | 1 | 6 |
| Glycogen storage disease, type VI | 1 | 5 | 0 | 6 |
| Leber congenital amaurosis 10 | 4 | 0 | 0 | 4 |
| Leber congenital amaurosis 6 | 4 | 0 | 0 | 4 |
| Progressive familial intrahepatic cholestasis type 2 | 2 | 2 | 0 | 4 |
| Arthrogryposis, renal dysfunction, and cholestasis 1 | 0 | 2 | 0 | 2 |
| Glycogen storage disease IXc | 1 | 1 | 0 | 2 |
| Joubert syndrome 3 | 2 | 0 | 0 | 2 |
| Leber congenital amaurosis 8 | 2 | 0 | 0 | 2 |
| Autosomal dominant nonsyndromic hearing loss 6 | 0 | 1 | 0 | 1 |
| Fanconi anemia complementation group A | 1 | 0 | 0 | 1 |
| Intellectual disability, autosomal dominant 16 | 0 | 1 | 0 | 1 |
| Neonatal intrahepatic cholestasis due to citrin deficiency | 1 | 0 | 0 | 1 |
| Senior-Loken syndrome 5 | 1 | 0 | 0 | 1 |