| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | not specified | |
| | | Microsatellite (inframe deletion) | PACS1-related disorder | |
| | | Single nucleotide variant (missense variant) | PACS1-related disorder | |
| | | Single nucleotide variant (missense variant) | PACS1-related disorder | |
| | | Single nucleotide variant (missense variant) | PACS1-related disorder | |
| | | Deletion (inframe deletion) | PACS1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | PACS1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (splice donor variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Deletion (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Duplication (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Deletion (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Duplication (splice donor variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (stop lost) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Microsatellite (intron variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome | |
| | | Single nucleotide variant (missense variant) | Schuurs-Hoeijmakers syndrome | |