| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129998564, LOC129998565 +351 more | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +350 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC02604, LOC121740683 +16 more | Copy number gain | Diaphragmatic hernia | |
| | | 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 | |
| | LOC126860057, TMEM248 (Q200R) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860057, TMEM248 (A212T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860057, TMEM248 (T220I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126860057, TMEM248 (A230P) | 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 | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Duplication | Argininosuccinate lyase deficiency | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Inversion | Childhood apraxia of speech | |