| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Paramyotonia congenita of Von Eulenburg +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | Potassium-aggravated myotonia +5 more | |
| | | Insertion (3 prime UTR variant) | Potassium-aggravated myotonia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +5 more | |
| | | Microsatellite (3 prime UTR variant) | Potassium-aggravated myotonia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 16 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Potassium-aggravated myotonia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypokalemic periodic paralysis, type 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (synonymous variant) | Paramyotonia congenita of Von Eulenburg +6 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis | |
| | | Indel (missense variant) | Hypokalemic periodic paralysis, type 1 +6 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 16 +6 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | Potassium-aggravated myotonia +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Potassium-aggravated myotonia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis +5 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (nonsense) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Deletion | Familial hyperkalemic periodic paralysis +8 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Familial hyperkalemic periodic paralysis | |
| | | Duplication (frameshift variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hyperkalemic periodic paralysis | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 16 +6 more | GConflicting classifications of pathogenicity |