| | | 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 +2 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | PRKG2-related disorder | |
| | | Deletion (intron variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PRKG2-related disorder | |
| | | Single nucleotide variant (missense variant) | PRKG2-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | PRKG2-related disorder | |
| | | Copy number gain | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Chromosome 4q21 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | Acromesomelic dysplasia 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Acromesomelic dysplasia 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Insertion (nonsense) | not provided | |
| | | Insertion (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | FDCSP, LOC129992677 +330 more | Deletion | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication (frameshift variant) | Spondylometaphyseal dysplasia, pagnamenta type | |
| | | Duplication (frameshift variant) | Acromesomelic dysplasia 4 | |
| | | Single nucleotide variant (nonsense) | Acromesomelic dysplasia 4 | |
| | ABRAXAS1, ADAMTS3 +97 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ABRAXAS1, ADAMTS3 +331 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | LOC129992714, LOC129992715 +236 more | Copy number loss | See cases | |