| | CCDC73, LOC130005485 +1 more (V6I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005486, PRRG4 (C21G) | 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) | PRRG4-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRRG4-related disorder | |
| | | Single nucleotide variant (missense variant) | PRRG4-related disorder | |
| | | Single nucleotide variant (intron variant) | PRRG4-related disorder | |
| | | Single nucleotide variant (missense variant) | PRRG4-related disorder | |
| | | Single nucleotide variant (missense variant) | PRRG4-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130005486, PRRG4 (K29E) | 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 loss | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number gain | not specified | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ARL14EP, C11orf91 +23 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | 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 | Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129390275, LOC129390276 +255 more | Copy number loss | See cases | |
| | PAX6_HS3, PAX6_HS8 +334 more | Copy number loss | See cases | |