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 |
|---|---|---|---|---|---|
| 25 | 11 | 12 | 0 | 1 | 49 |
Gene and significance breakdown #
Total genes and gene combinations: 21
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| intergenic | 0 | 0 | 9 | 0 | 9 |
| GAA | 5 | 0 | 0 | 1 | 6 |
| POLR2F, SOX10 | 6 | 0 | 0 | 0 | 6 |
| DUOX2 | 0 | 4 | 0 | 0 | 4 |
| GBA1, LOC106627981 | 1 | 1 | 1 | 0 | 3 |
| PAX8 | 1 | 2 | 0 | 0 | 3 |
| DUOXA2 | 2 | 0 | 0 | 0 | 2 |
| TG | 1 | 1 | 0 | 0 | 2 |
| TSHR | 1 | 1 | 0 | 0 | 2 |
| AP1S2 | 1 | 0 | 0 | 0 | 1 |
| COL7A1 | 1 | 0 | 0 | 0 | 1 |
| HEXB | 0 | 1 | 0 | 0 | 1 |
| ITGB4 | 1 | 0 | 0 | 0 | 1 |
| LAMC2 | 1 | 0 | 0 | 0 | 1 |
| MT-ND6 | 0 | 0 | 1 | 0 | 1 |
| MT-RNR2 | 0 | 0 | 1 | 0 | 1 |
| PET100, STXBP2 | 1 | 0 | 0 | 0 | 1 |
| PKP2 | 1 | 0 | 0 | 0 | 1 |
| PLEC | 1 | 0 | 0 | 0 | 1 |
| SLC5A5 | 0 | 1 | 0 | 0 | 1 |
| TCN2 | 1 | 0 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 21
| Condition | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Mitochondrial inheritance | 0 | 0 | 11 | 0 | 11 |
| Glycogen storage disease, type II | 5 | 0 | 0 | 1 | 6 |
| Thyroid dyshormonogenesis 6 | 0 | 4 | 0 | 0 | 4 |
| Gaucher disease type I | 1 | 1 | 1 | 0 | 3 |
| Hypothyroidism, congenital, nongoitrous, 2 | 1 | 2 | 0 | 0 | 3 |
| PCWH syndrome | 3 | 0 | 0 | 0 | 3 |
| Hypothyroidism due to TSH receptor mutations | 1 | 1 | 0 | 0 | 2 |
| Iodotyrosyl coupling defect | 1 | 1 | 0 | 0 | 2 |
| Thyroglobulin synthesis defect | 2 | 0 | 0 | 0 | 2 |
| Waardenburg syndrome type 2E | 2 | 0 | 0 | 0 | 2 |
| Abnormality of the mitochondrion | 1 | 0 | 0 | 0 | 1 |
| Cardiomyopathy | 1 | 0 | 0 | 0 | 1 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 1 | 0 | 0 | 0 | 1 |
| Familial thyroid dyshormonogenesis 1 | 0 | 1 | 0 | 0 | 1 |
| Junctional epidermolysis bullosa with pyloric atresia | 1 | 0 | 0 | 0 | 1 |
| Junctional epidermolysis bullosa, non-Herlitz type | 1 | 0 | 0 | 0 | 1 |
| Pancytopenia | 1 | 0 | 0 | 0 | 1 |
| Pettigrew syndrome | 1 | 0 | 0 | 0 | 1 |
| Recessive dystrophic epidermolysis bullosa | 1 | 0 | 0 | 0 | 1 |
| Sandhoff disease | 0 | 1 | 0 | 0 | 1 |
| Waardenburg syndrome type 4C | 1 | 0 | 0 | 0 | 1 |