| | | Copy number loss | not specified | |
| | | 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 loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Holoprosencephaly 5 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | DAOA-AS1, DAOA (D15E +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | DAOA, DAOA-AS1 (R57G +3 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CCDC169-SOHLH2, CCDC70 +332 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Complete trisomy 13 syndrome | |
| | | 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 loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Deletion | Distal monosomy 13q | |
| | | Copy number gain | See cases | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | DAOA, DAOA-AS1 (Q65E +3 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LINC03082, LOC100506016 +325 more | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | LINC02337, LINC03032 +332 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | LOC130010070, LOC130010071 +663 more | Copy number gain | See cases | |
| | LOC130010172, LOC130010173 +367 more | Copy number gain | See cases | |
| | MCF2L-AS1, METTL21C +706 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC110008580, LOC110120930 +544 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | FGF14-IT1, FKSG29 +369 more | Copy number gain | See cases | |
| | LOC130009994, LOC130009995 +705 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00392, LINC00393 +1404 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010106, LOC130010107 +638 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |