| | | Duplication | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | UFM1-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | UFM1-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Leukodystrophy, hypomyelinating, 14 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Complete trisomy 13 syndrome | |
| | | Single nucleotide variant (intron variant) | Leukodystrophy, hypomyelinating, 14 | |
| | | Deletion (intron variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Leukodystrophy, hypomyelinating, 14 +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Leukodystrophy, hypomyelinating, 14 | |
| | | Deletion | Leukodystrophy, hypomyelinating, 14 +1 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GTF2F2, LINC00567 +332 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | LINC00571, LOC124855086 +6 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009665, LOC130009659 +612 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009611, LOC130009612 +938 more | Copy number gain | See cases | |
| | LINC00437, LINC00571 +4 more | Copy number gain | See cases | |
| | LOC132090185, LOC132090186 +621 more | Copy number gain | See cases | |
| | LOC130009600, LOC130009601 +735 more | Copy number gain | See cases | |
| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | LINC00400, LINC02333 +604 more | Copy number loss | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | LOC130009567, LOC130009568 +1005 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009620, LOC130009621 +781 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |