| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130005701, LOC130005702 +15 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (nonsense) | not provided | |
| | | 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 provided | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant | not provided | |
| | LOC126861211, P2RX3 (T364S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861211, P2RX3 (T365M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861211, P2RX3 (A369T) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861211, P2RX3 (L371S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861211, P2RX3 (S390L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005708, LOC130005709 +48 more | Copy number gain | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Intellectual disability | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |