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 |
|---|---|---|---|---|---|
| 23 | 38 | 22 | 0 | 0 | 83 |
Gene and significance breakdown #
Total genes and gene combinations: 48
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| RYR1 | 4 | 7 | 0 | 11 |
| ALS2 | 2 | 5 | 0 | 7 |
| MTMR2 | 4 | 0 | 0 | 4 |
| NALCN | 0 | 3 | 0 | 3 |
| PIEZO2 | 2 | 1 | 0 | 3 |
| ASAH1 | 0 | 2 | 0 | 2 |
| ASPM | 1 | 1 | 0 | 2 |
| BLTP1 | 0 | 2 | 0 | 2 |
| DYNC1H1 | 0 | 0 | 2 | 2 |
| EARS2 | 0 | 2 | 0 | 2 |
| GLDN | 0 | 1 | 1 | 2 |
| LGI4 | 0 | 2 | 0 | 2 |
| RAPSN | 1 | 1 | 0 | 2 |
| ROR2 | 0 | 2 | 0 | 2 |
| SLC6A5 | 2 | 0 | 0 | 2 |
| SPAG16 | 0 | 0 | 2 | 2 |
| VPS13D | 0 | 0 | 2 | 2 |
| ACTA1 | 1 | 0 | 0 | 1 |
| ADSS1 | 1 | 0 | 0 | 1 |
| ALDH5A1 | 0 | 1 | 0 | 1 |
| ASCC1 | 1 | 0 | 0 | 1 |
| ATP2B3 | 0 | 1 | 0 | 1 |
| AVEN, RYR3 | 0 | 0 | 1 | 1 |
| CCN6 | 1 | 0 | 0 | 1 |
| CHRND | 0 | 1 | 0 | 1 |
| CHRNG | 0 | 1 | 0 | 1 |
| CNTNAP1 | 0 | 1 | 0 | 1 |
| CNTNAP1, LOC125177481 | 1 | 0 | 0 | 1 |
| DQX1 | 0 | 0 | 1 | 1 |
| FBLN1 | 0 | 0 | 1 | 1 |
| GBE1 | 0 | 1 | 0 | 1 |
| GCN1 | 0 | 0 | 1 | 1 |
| GFRA4 | 0 | 0 | 1 | 1 |
| IQSEC3 | 0 | 0 | 1 | 1 |
| IQSEC3, LOC574538 | 0 | 0 | 1 | 1 |
| MAGI3 | 0 | 0 | 1 | 1 |
| NAGA | 0 | 0 | 1 | 1 |
| PRG4 | 0 | 0 | 1 | 1 |
| PRICKLE1 | 0 | 0 | 1 | 1 |
| SCN4A | 0 | 1 | 0 | 1 |
| SCN5A | 0 | 1 | 0 | 1 |
| SCN8A | 0 | 1 | 0 | 1 |
| SETBP1 | 1 | 0 | 0 | 1 |
| TMPO | 0 | 0 | 1 | 1 |
| UNC45B | 1 | 0 | 0 | 1 |
| UNC50 | 0 | 0 | 1 | 1 |
| ZEB2 | 0 | 0 | 1 | 1 |
| ZNF875 | 0 | 0 | 1 | 1 |
Condition and significance breakdown #
Total conditions: 8
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita | 13 | 33 | 22 | 68 |
| Infantile-onset ascending hereditary spastic paralysis | 1 | 5 | 0 | 6 |
| Charcot-Marie-Tooth disease type 4B1 | 4 | 0 | 0 | 4 |
| Exaggerated startle response | 2 | 0 | 0 | 2 |
| Fetal akinesia deformation sequence 1 | 1 | 0 | 0 | 1 |
| Juvenile primary lateral sclerosis | 1 | 0 | 0 | 1 |
| Myopathy | 1 | 0 | 0 | 1 |
| Progressive pseudorheumatoid dysplasia | 1 | 0 | 0 | 1 |