| | | Microsatellite | Desbuquois dysplasia 2 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862302, LOC126862303 +95 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125146419, LOC126862299 +83 more | Duplication | Schizophrenia | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC102723692, LOC111365165 +77 more | Copy number loss | Autism spectrum disorder | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862305, LOC129390771 +77 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR3670-2, MIR3670-3 +77 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC112340379, LOC112340380 +66 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MPV17L-BMERB1, NPIPA7 +66 more | Duplication | Schizophrenia | |
| | MIR3180-2, MIR3670-2 +66 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | GPathogenic/Likely pathogenic |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MIR6511A4, MIR6770-2 +75 more | Copy number gain | See cases | |
| | LOC126862301, LOC102723692 +29 more | Copy number loss | See cases | |
| | LOC102723692, LOC111365165 +40 more | Copy number gain | See cases | |
| | LOC102723692, LOC111365165 +40 more | Copy number gain | See cases | |
| | LOC102723692, LOC111365165 +13 more | Copy number gain | See cases | |
| | LOC102723692, LOC126862302 +15 more | Deletion | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (stop lost) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Deletion (inframe_deletion) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |