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 | established risk allele | total |
|---|---|---|---|---|---|---|
| 8 | 1 | 0 | 0 | 0 | 1 | 10 |
Gene and significance breakdown #
Total genes and gene combinations: 10
| Gene or gene combination | pathogenic | likely pathogenic | established risk allele | total |
|---|---|---|---|---|
| BPTF | 0 | 0 | 1 | 1 |
| C1GALT1C1 | 1 | 0 | 0 | 1 |
| CEP63, KY | 1 | 0 | 0 | 1 |
| DEGS1 | 1 | 0 | 0 | 1 |
| HMGCR | 1 | 0 | 0 | 1 |
| LOC126859908, THBS2 | 1 | 0 | 0 | 1 |
| NHEJ1 | 0 | 1 | 0 | 1 |
| SCAPER | 1 | 0 | 0 | 1 |
| TPM3 | 1 | 0 | 0 | 1 |
| ZNF142 | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | likely pathogenic | established risk allele | total |
|---|---|---|---|---|
| Atypical hemolytic-uremic syndrome | 1 | 0 | 0 | 1 |
| Congenital myopathy with fiber type disproportion | 1 | 0 | 0 | 1 |
| Ehlers-Danlos syndrome | 1 | 0 | 0 | 1 |
| Hereditary spastic paraplegia | 1 | 0 | 0 | 1 |
| Isolated anophthalmia-microphthalmia syndrome | 0 | 1 | 0 | 1 |
| Kaposi sarcoma | 0 | 0 | 1 | 1 |
| Leukodystrophy | 1 | 0 | 0 | 1 |
| Limb-girdle muscular dystrophy | 1 | 0 | 0 | 1 |
| Obesity; Brachydactyly; Short stature; Pigmentary retinopathy; Intellectual disability; Abnormality of speech or vocalization | 1 | 0 | 0 | 1 |
| Seizure; Intellectual disability | 1 | 0 | 0 | 1 |