| | LOC121466733, LOC121468000 +2048 more | Copy number loss | See cases | |
| | LOC130010147, LOC130010148 +2049 more | Copy number gain | See cases | |
| | LOC130009360, LOC130009361 +2047 more | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC00462, LINC00463 +2021 more | Copy number gain | 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 gain | See cases | |
| | LINC00434, LINC00437 +735 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130009906, LOC130009907 +733 more | Copy number loss | See cases | |
| | LINC00561, LINC00562 +729 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC00550, LINC00552 +1268 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Chromosome 13q14 deletion syndrome | |
| | | Copy number loss | See cases | |
| | LOC124900143, LOC124900144 +266 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | SETDB2, SETDB2-PHF11 (I50F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (P75L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SETDB2, SETDB2-PHF11 (S123F +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SETDB2, SETDB2-PHF11 (P164T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (V190M +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (N191S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | See cases | |
| | SETDB2, SETDB2-PHF11 (V244L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (E251D +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (F289L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (R324G +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (L324S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (H363R +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (K408I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SETDB2, SETDB2-PHF11 (G404R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | SETDB2, SETDB2-PHF11 (S465R +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (K504E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (S489T +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (S501C +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (K522E +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (T598A +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | SETDB2, SETDB2-PHF11 (N647D +4 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | CCDC169-SOHLH2, CCDC70 +332 more | Copy number gain | not provided | |
| | | 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 loss | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |