| | | Single nucleotide variant (splice donor variant) | 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 | |
| | | 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) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +2 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 | |
| | | Duplication | 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 (intron variant) | 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 +1 more | |
| | | Single nucleotide variant (synonymous 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 (missense 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 (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 (intron variant) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | LOC130063979, PIK3R2 (V232M) | 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 +1 more | |
| | | 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 (intron variant) | 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 | |
| | LOC130063980, PIK3R2 (K589R) | 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 (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | PIK3R2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | |