| | 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 | |
| | | Copy number gain | See cases | |
| | LOC130009909, LOC130009910 +2044 more | Copy number gain | See cases | |
| | LINC00333, LINC00343 +2045 more | Copy number gain | See cases | |
| | CRYL1, EEF1AKMT1 +116 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112163664, LOC112163665 +2040 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC121838573, LOC121838574 +2028 more | Copy number gain | See cases | |
| | LOC130009528, LOC130009529 +620 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 1B +3 more | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | IL17D, LOC130009328 (A26T +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (A33V +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (R27P +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | IL17D, LOC130009328 (V50M +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (A73P +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (C71S +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (R80C +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (P92L +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | IL17D, LOC130009328 (W94R +1 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | 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 | Complete trisomy 13 syndrome | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Cataract 14 multiple types | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |