| | | Copy number loss | See cases | |
| | LOC123956257, LOC123956258 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PRKAG2, PRKAG2-AS1 +1052 more | Copy number gain | See cases | |
| | LOC129389895, LOC129389896 +1046 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRC-GCA9-3, TRC-GCA9-4 +1019 more | Copy number gain | See cases | |
| | LOC129999635, LOC129999636 +944 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | EPHA1-AS1, EPHB6 +888 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129999716, LOC129999717 +847 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999721, LOC129999722 +707 more | Copy number loss | See cases | |
| | ARHGEF35, ARHGEF35-AS1 +110 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Batten-Turner congenital myopathy +3 more | |
| | | Indel (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | 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 +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 (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 recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | CLCN1-related disorder +5 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 dominant 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 dominant 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) | not specified +3 more | |
| | | Duplication (frameshift variant +1 more) | Congenital myotonia, autosomal dominant 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 recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Batten-Turner congenital myopathy | |
| | | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +5 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 recessive form +1 more | |
| | | Single nucleotide variant (nonsense +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 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 (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Inborn genetic diseases | |
| | | 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 recessive 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 recessive 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) | Inborn genetic diseases | |
| | | 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) | not specified | |
| | | 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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myotonia, autosomal recessive form +3 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 dominant form +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myotonia, autosomal recessive form | |
| | | 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 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 | |