| | P3R3URF-PIK3R3, PIK3R3 (V385G +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (D341H +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (N339D +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (A138G +4 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (K343R +6 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (N364S +6 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | P3R3URF-PIK3R3, PIK3R3 (E139G +5 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (D339N +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (D318V +6 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | P3R3URF-PIK3R3, PIK3R3 (E234Q +5 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (H381R +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (D40N +4 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (H141D +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (H142R +4 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (R136Q +4 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | P3R3URF-PIK3R3, PIK3R3 (R255Q +7 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PIK3R3, P3R3URF-PIK3R3 (R266H +5 more) | Single nucleotide variant (missense variant +2 more) | Familial cancer of breast | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |