| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130064154, LOC130064155 +625 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Duplication (frameshift variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (intron variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Deletion (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |