| | PABPC4, PABPC4-AS1 (F262S) | Single nucleotide variant (missense variant) | not specified | |
| | PABPC4, PABPC4-AS1 (P226A) | Single nucleotide variant (missense variant) | not specified | |
| | PABPC4, PABPC4-AS1 (R166C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | PABPC4, PABPC4-AS1 (V338I) | Single nucleotide variant (missense variant) | not specified | |
| | | Inversion | Bilateral polymicrogyria | |
| | | 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 +1 more) | 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 | |
| | PABPC4, PABPC4-AS1 (I260V) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BMP8A, LOC129930214 +7 more | Copy number gain | See cases | |
| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |