| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPU, PRIMPOL (P366S +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | CENPU, PRIMPOL (E407G +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CENPU, PRIMPOL (W280S +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CENPU, PRIMPOL (Q261E +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | PRIMPOL-related disorder | |
| | | Deletion (inframe_deletion +2 more) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (intron variant) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PRIMPOL-related disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | PRIMPOL-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | CENPU, PRIMPOL (E333Q +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | CENPU, PRIMPOL (D381E +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | CENPU, PRIMPOL (A265G +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | CENPU, PRIMPOL (T248R +9 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | FETAL DEMISE | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Atypical behavior +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |