| | | Microsatellite (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | PCNT-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (splice acceptor variant +1 more) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Duplication (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephalic osteodysplastic primordial dwarfism type II +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (splice donor variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice donor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (intron variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Duplication (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (intron variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (intron variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Duplication (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Duplication (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (splice donor variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (3 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | PCNT-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (synonymous variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |