| | | Deletion (frameshift variant) | Abnormal cardiovascular system morphology | |
| | | Single nucleotide variant (nonsense) | Abnormal cardiovascular system morphology | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (nonsense) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | Vascular malformation +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Abnormal cardiovascular system morphology +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Ciliary dyskinesia, primary, 40 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormal cardiovascular system morphology +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | | Familial Mediterranean fever | |
| | | Deletion (frameshift variant +1 more) | Hypotonia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Sturge-Weber syndrome | |
| | | Translocation | Hypotonia +11 more | |
| | | Translocation | Tetralogy of Fallot +5 more | |
| | | Translocation | Cryptorchidism +10 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Brainstem dysplasia +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 5 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Abnormal cardiovascular system morphology | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Abnormal cardiovascular system morphology | |
| | | Indel (3 prime UTR variant +1 more) | Abnormal cardiovascular system morphology +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Deletion (frameshift variant) | Congenital diaphragmatic hernia +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital diaphragmatic hernia +1 more | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +10 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | Cowden syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple cutaneous and mucosal venous malformations +1 more | |
| | | Single nucleotide variant (missense variant) | Neoplasm of ovary | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | PTPN11-related condition +11 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | PTEN-related condition +8 more | |
| | | Single nucleotide variant (nonsense) | PTEN-related condition +6 more | GPathogenic/Likely pathogenic |
| | LOC126862264, MEFV (K695R) | Single nucleotide variant (missense variant +1 more) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormal cardiovascular system morphology +5 more | |