| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLCN1, LOC123956257 (M646V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CLCN1, LOC123956257 (L671R) | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +2 more | |
| | CLCN1, LOC123956257 (Q675P) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | CLCN1, LOC123956257 (E676Q) | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | CLCN1, LOC123956257 (E683Q) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | CLCN1, LOC123956257 (D687H) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CLCN1, LOC123956257 (G688R) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Insertion (inframe_indel +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CLCN1, LOC123956257 (G703A) | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
Click to view in NCBI Gene