| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130063979, PIK3R2 (R244W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC130063979, PIK3R2 (D271E) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | LOC130063979, PIK3R2 (L239P) | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | LOC130063979, PIK3R2 (R223H) | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (intron variant) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (intron variant) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder | |
| | | 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 | |
| | | 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 | |
| | | Duplication (inframe_insertion +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 (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | 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 (non-coding transcript 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 | |
| | | Deletion (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Microsatellite (inframe_deletion +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Duplication (inframe_insertion +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (non-coding transcript 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 (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (non-coding transcript 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 | |
| | | Indel (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | LOC130063979, PIK3R2 (P260S) | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | LOC130063979, PIK3R2 (E189K) | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (intron variant) | 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) | 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 | |
| | | Microsatellite (frameshift variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Overgrowth syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense 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) | PIK3R2-related disorder | |
| | LOC130063979, PIK3R2 (R244L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Indel (splice acceptor variant) | not provided | |