| | | | Congenital myotonia, autosomal recessive form | |
| | | Single nucleotide variant (missense variant) | Batten-Turner congenital myopathy | |
| | LOC123956257, CLCN1 (P705R) | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Batten-Turner congenital myopathy | |
| | CLCN1, LOC123956257 (A673P) | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (intron variant) | Batten-Turner congenital myopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Batten-Turner congenital myopathy | |
| | | Microsatellite (splice donor variant) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | Pain +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Batten-Turner congenital myopathy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Batten-Turner congenital myopathy +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | |
| | | Single nucleotide variant (intron variant) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myotonia, autosomal recessive form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +4 more | |
| | | Deletion (frameshift variant +1 more) | Batten-Turner congenital myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Tip-toe gait +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |