| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CNP, DNAJC7 (G419S +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | CNP-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CNP, DNAJC7 (G487R +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Indel (missense variant) | Leukodystrophy, hypomyelinating, 20 | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 20 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Leukodystrophy, hypomyelinating, 20 | |
| | | Single nucleotide variant (5 prime UTR variant) | Myopia 2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopia 2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Myopia 2, autosomal dominant | |
| | | Single nucleotide variant (5 prime UTR variant) | Myopia 2, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Myopia 2, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability +1 more | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130060795, LOC130060796 +1753 more | Copy number gain | See cases | |