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 |
|---|---|---|---|---|---|
| 122 | 37 | 6 | 0 | 2 | 167 |
Gene and significance breakdown #
Total genes and gene combinations: 17
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| ABCA4 | 74 | 28 | 3 | 2 | 107 |
| USH2A | 15 | 3 | 0 | 0 | 18 |
| ABCA4, LOC126805793 | 9 | 2 | 0 | 0 | 11 |
| TEK | 5 | 1 | 3 | 0 | 9 |
| PROM1 | 6 | 0 | 0 | 0 | 6 |
| PRPH2 | 2 | 1 | 0 | 0 | 3 |
| ABCA4, LOC126805794 | 2 | 0 | 0 | 0 | 2 |
| LRIT3 | 2 | 0 | 0 | 0 | 2 |
| ADAM9, LOC130000261 | 1 | 0 | 0 | 0 | 1 |
| BEST1 | 0 | 1 | 0 | 0 | 1 |
| CERKL | 1 | 0 | 0 | 0 | 1 |
| CHRDL1 | 1 | 0 | 0 | 0 | 1 |
| CRX | 1 | 0 | 0 | 0 | 1 |
| CYP2U1 | 1 | 0 | 0 | 0 | 1 |
| LOC122152296, USH2A | 1 | 0 | 0 | 0 | 1 |
| PCARE | 1 | 0 | 0 | 0 | 1 |
| UNC119 | 0 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 11
| Condition | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Severe early-childhood-onset retinal dystrophy | 53 | 16 | 2 | 2 | 73 |
| Stargardt disease | 24 | 9 | 0 | 0 | 33 |
| Stargardt disease 3 | 21 | 5 | 1 | 0 | 27 |
| Usher syndrome type 2 | 16 | 3 | 0 | 0 | 19 |
| Glaucoma 3, primary congenital, E | 5 | 1 | 3 | 0 | 9 |
| Patterned macular dystrophy 1 | 1 | 1 | 0 | 0 | 2 |
| Autosomal recessive bestrophinopathy | 0 | 1 | 0 | 0 | 1 |
| Cone-rod dystrophy | 1 | 0 | 0 | 0 | 1 |
| Hereditary spastic paraplegia 56 | 1 | 0 | 0 | 0 | 1 |
| Isolated congenital megalocornea | 1 | 0 | 0 | 0 | 1 |
| Macular dystrophy | 0 | 1 | 0 | 0 | 1 |