| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLCN1, LOC123956257 (Q662*) | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal recessive form | |
| | CLCN1, LOC123956257 (C666fs) | Microsatellite (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form | |
| | CLCN1, LOC123956257 (E668*) | Duplication (nonsense +1 more) | Congenital myotonia, autosomal recessive form | |
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