| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +4 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal recessive form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Batten-Turner congenital myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Deletion (frameshift variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal dominant form +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | RASopathy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |