| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062208, LOC130062209 +322 more | Copy number gain | See cases | |
| | LOC130062243, LOC130062244 +111 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | CABLES1, TMEM241 (V162L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (S492L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (T236N +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (P180L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (R197Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (V216I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (A222T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (E354K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (Y299C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CABLES1, TMEM241 (Q366L +2 more) | 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) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Niemann-Pick disease, type C1 | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | DLGAP1, DLGAP1-AS2 +174 more | Deletion | Intellectual disability | |
| | | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |