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 |
|---|---|---|---|---|---|
| 7 | 8 | 0 | 50 | 0 | 65 |
Gene and significance breakdown #
Total genes and gene combinations: 49
| Gene or gene combination | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| PTCH1 | 0 | 6 | 1 | 7 |
| STRA6 | 3 | 0 | 0 | 3 |
| FAT4 | 0 | 0 | 2 | 2 |
| FRAS1 | 0 | 0 | 2 | 2 |
| NDST2, NDST2-ZSWIM8 | 0 | 0 | 2 | 2 |
| NOTCH1 | 0 | 0 | 2 | 2 |
| RPGRIP1 | 0 | 0 | 2 | 2 |
| TSHZ2 | 0 | 0 | 2 | 2 |
| VSX2 | 2 | 0 | 0 | 2 |
| WNT7B | 1 | 1 | 0 | 2 |
| ADAM17 | 0 | 0 | 1 | 1 |
| ARR3 | 0 | 0 | 1 | 1 |
| CDH1 | 0 | 0 | 1 | 1 |
| CEP83, PLXNC1 | 0 | 0 | 1 | 1 |
| CHRD | 0 | 0 | 1 | 1 |
| CHST5 | 0 | 0 | 1 | 1 |
| CYP26C1 | 0 | 0 | 1 | 1 |
| DAB1 | 0 | 0 | 1 | 1 |
| DACT1 | 0 | 0 | 1 | 1 |
| DICER1 | 0 | 0 | 1 | 1 |
| EFHD1, LOC122861314 | 0 | 0 | 1 | 1 |
| EPHB2 | 0 | 0 | 1 | 1 |
| FAT1 | 0 | 0 | 1 | 1 |
| FGFR3 | 0 | 0 | 1 | 1 |
| FREM1 | 0 | 0 | 1 | 1 |
| GLI2 | 0 | 0 | 1 | 1 |
| GLIS3 | 0 | 0 | 1 | 1 |
| IFT172, KRTCAP3 | 0 | 0 | 1 | 1 |
| IFT172, LOC126806173 | 0 | 0 | 1 | 1 |
| KIF21A | 0 | 0 | 1 | 1 |
| LOC100507346, PTCH1 | 0 | 1 | 0 | 1 |
| MAP3K1 | 0 | 0 | 1 | 1 |
| MITF | 0 | 0 | 1 | 1 |
| MYO1C | 0 | 0 | 1 | 1 |
| NOTCH4 | 0 | 0 | 1 | 1 |
| NR5A2 | 0 | 0 | 1 | 1 |
| PAX6 | 1 | 0 | 0 | 1 |
| PFKP | 0 | 0 | 1 | 1 |
| PITRM1 | 0 | 0 | 1 | 1 |
| PRPF8 | 0 | 0 | 1 | 1 |
| RARG | 0 | 0 | 1 | 1 |
| SALL3 | 0 | 0 | 1 | 1 |
| SEZ6L2 | 0 | 0 | 1 | 1 |
| SFRP2 | 0 | 0 | 1 | 1 |
| SOX14 | 0 | 0 | 1 | 1 |
| SULF1 | 0 | 0 | 1 | 1 |
| TAMALIN | 0 | 0 | 1 | 1 |
| VAX2 | 0 | 0 | 1 | 1 |
| WNT7A | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | likely benign | total |
|---|---|---|---|---|
| Anophthalmia-microphthalmia syndrome | 6 | 5 | 37 | 48 |
| Irido-corneo-trabecular dysgenesis | 0 | 1 | 4 | 5 |
| Rieger anomaly | 0 | 1 | 3 | 4 |
| Irido-corneo-trabecular dysgenesis; Anophthalmia-microphthalmia syndrome | 0 | 0 | 3 | 3 |
| Congenital aniridia | 0 | 0 | 2 | 2 |
| Irido-corneo-trabecular dysgenesis; Rieger anomaly | 0 | 1 | 1 | 2 |
| Matthew-Wood syndrome | 1 | 0 | 0 | 1 |