| | RFESD, SPATA9 (I140V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RFESD, SPATA9 (D194E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RFESD, SPATA9 (T132N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RFESD, SPATA9 (K86R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | RFESD, SPATA9 (R109C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | RFESD, SPATA9 (M106T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RFESD, SPATA9 (R31G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | RFESD, SPATA9 (P134R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | RFESD, SPATA9 (P81S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | RFESD, SPATA9 (R109S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ADAMTS19, ADGRV1 +104 more | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC129994229, LOC129994230 +688 more | Copy number loss | See cases | |
| | LOC129994289, LOC129994290 +342 more | Copy number loss | See cases | |
| | LOC129994369, LOC129994370 +495 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ARB2A, ARRDC3-AS1 +146 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |