| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | LOC100134040, LRRC61 +40 more | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | LOC100134040, ATP6V0E2 +3 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ATP6V0E2, C7orf33 +20 more | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ATP6V0E2, C7orf33 +20 more | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Abnormal esophagus morphology | |
| | LOC129999666, LOC129999667 +1052 more | Copy number gain | See cases | |
| | LOC129999503, LOC129999504 +1025 more | Copy number gain | See cases | |
| | LOC126860247, LOC126860248 +526 more | Copy number loss | See cases | |
| | TMEM140, TMEM176A +1046 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LINC00996, LINC01003 +1025 more | Copy number gain | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | ACTR3C, ARHGEF35 +172 more | Copy number gain | See cases | |
| | WDR86, WDR86-AS1 +944 more | Copy number loss | See cases | |
| | LOC105375556, LOC105375589 +540 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999343, LOC129999344 +2213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123956263, LOC123956264 +4737 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999755, LOC129999756 +573 more | Copy number loss | See cases | |
| | LOC129999649, LOC129999650 +737 more | Copy number loss | See cases | |
| | LOC129999526, LOC129999527 +908 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACTR3C, ATP6V0E2 +142 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |