| | | 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 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Deletion (frameshift variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (nonsense) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | Single nucleotide variant (missense variant) | Oocyte/zygote/embryo maturation arrest 20 | |
| | | 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 (synonymous variant) | not provided | |
| | | Copy number gain | Polydactyly | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |