| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064154, LOC130064155 +625 more | Copy number gain | See cases | |
| | | 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 | |
| | FKBP8, LOC112543469 (A255T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FKBP8, LOC112543469 (S253T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FKBP8, LOC112543469 (A241T +1 more) | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability | |
| | FKBP8, LOC112543469 (E210A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FKBP8, LOC112543469 (V204A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | FKBP8, LOC112543469 (T203M +1 more) | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |