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 |
|---|---|---|---|---|---|
| 36 | 17 | 17 | 0 | 0 | 69 |
Gene and significance breakdown #
Total genes and gene combinations: 10
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| CLCN1 | 7 | 5 | 7 | 19 |
| GH-LCR, SCN4A | 10 | 6 | 4 | 19 |
| SCN4A | 4 | 2 | 4 | 10 |
| KCNJ2 | 3 | 1 | 2 | 6 |
| CACNA1S | 4 | 1 | 0 | 5 |
| NTRK1 | 3 | 1 | 0 | 4 |
| CLCN1, LOC123956257 | 2 | 0 | 0 | 2 |
| SCN1A, SCN9A | 2 | 0 | 0 | 2 |
| DNMT1 | 0 | 1 | 0 | 1 |
| DNMT1, SHFL | 1 | 0 | 0 | 1 |
Condition and significance breakdown #
Total conditions: 10
| Condition | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| SCN4A-related non-dystrophic myotonia | 7 | 6 | 4 | 17 |
| Congenital myotonia, autosomal dominant form | 5 | 5 | 4 | 14 |
| Hyperkalemic periodic paralysis | 5 | 2 | 5 | 12 |
| Hypokalemic periodic paralysis, type 1 | 8 | 1 | 1 | 10 |
| Congenital myotonia, autosomal recessive form | 3 | 2 | 2 | 7 |
| Andersen Tawil syndrome | 3 | 1 | 2 | 6 |
| Hereditary insensitivity to pain with anhidrosis | 3 | 1 | 0 | 4 |
| Hereditary sensory neuropathy-deafness-dementia syndrome | 1 | 1 | 0 | 2 |
| Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | 0 | 0 | 1 |
| Paroxysmal extreme pain disorder | 1 | 0 | 0 | 1 |