| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +3 more | |
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