| | LOC128092249, PCNT (R44C +1 more) | Single nucleotide variant (missense variant +1 more) | PCNT-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | PCNT-related disorder | |
| | | Deletion (inframe_deletion +1 more) | PCNT-related disorder | |
| | LOC128092249, PCNT (K36T +1 more) | Single nucleotide variant (missense variant +1 more) | PCNT-related disorder | |
| | LOC128092249, PCNT (L19H +1 more) | Single nucleotide variant (missense variant +1 more) | PCNT-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | PCNT-related disorder | |
| | LOC128092249, PCNT (D47fs +1 more) | Indel (frameshift variant +1 more) | PCNT-related disorder | |
| | LOC128092249, PCNT (S31fs +1 more) | Duplication (frameshift variant +1 more) | PCNT-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | PCNT-related disorder | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | PCNT-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PCNT-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC128092249, PCNT (S25fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion (frameshift 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 | |
| | | Duplication (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (nonsense) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | LOC128092249, PCNT (V66I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC128092249, PCNT (Q51fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | 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 | |
| | | Insertion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Deletion (splice acceptor variant +1 more) | Megacolon | |
| | | Deletion (frameshift variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (5 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (5 prime UTR variant) | Microcephalic osteodysplastic primordial dwarfism type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Microcephalic osteodysplastic primordial dwarfism type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Microcephalic osteodysplastic primordial dwarfism type II | |