| | ATP8A2, ATXN8OS +2049 more | Copy number loss | See cases | |
| | LOC130009892, LOC130009893 +2050 more | Copy number gain | See cases | |
| | LOC130009819, LOC130009820 +2048 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009309, LOC130009310 +2041 more | Copy number gain | See cases | |
| | LOC130009607, LOC130009608 +2029 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009383, LOC130009384 +2022 more | Copy number gain | See cases | |
| | LOC126861859, LOC126861860 +2025 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2025 more | Copy number gain | See cases | |
| | LOC130009687, LOC130009688 +1557 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009917, LOC130009918 +1288 more | Copy number gain | See cases | |
| | ARHGEF7-AS1, ARHGEF7-AS2 +1268 more | Copy number gain | See cases | |
| | LOC124946344, LOC124946345 +706 more | Copy number gain | See cases | |
| | LOC130010101, LOC130010102 +705 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132090158, LOC132090159 +395 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010172, LOC130010173 +367 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GAS6-AS1, GAS6-DT +363 more | Copy number loss | See cases | |
| | LOC121468007, LOC121838584 +339 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC116268457, LOC121468007 +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010165, LOC130010166 +312 more | Copy number loss | Chromosome 13q33-q34 deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC130010121, LOC130010122 +156 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADPRHL1, ANKRD10 +271 more | Copy number loss | See cases | |
| | LOC130010213, LOC130010214 +261 more | Deletion | Factor VII deficiency +1 more | |
| | ADPRHL1, ANKRD10 +179 more | Copy number loss | See cases | |
| | MCF2L, MCF2L-AS1 +158 more | Copy number gain | See cases | |
| | ADPRHL1, ARHGEF7 +149 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | SOX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SOX1-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (inframe deletion) | SOX1-related disorder | |
| | | 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 | |
| | | 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 | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (inframe insertion) | SOX1-related disorder | |
| | | 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 | |
| | | Microsatellite (inframe deletion) | SOX1-related disorder | |
| | | 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 | |
| | | Microsatellite (inframe deletion) | SOX1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SOX1-related disorder | |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 (synonymous variant) | SOX1-related disorder | |