| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | LOC129937944, LOC129937945 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC123230395, P2RY1 (P21A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC123230395, P2RY1 (G22D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC123230395, P2RY1 (V36L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC123230395, P2RY1 (L95P) | 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 | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Brachycephaly +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | 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 | |