| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Autosomal dominant isolated somatotropin deficiency | |
| | | Single nucleotide variant (missense variant) | Hyperkalemic periodic paralysis +1 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 2 | |
| | | Single nucleotide variant (missense variant) | Paramyotonia congenita of Von Eulenburg +2 more | |
| | | Single nucleotide variant (missense variant) | Hyperkalemic periodic paralysis +8 more | |
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