| | | Single nucleotide variant (3 prime UTR variant +1 more) | ADCY3-related disorder | |
| | | Duplication (no sequence alteration +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (R1053H +4 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ADCY3, CENPO (V1033I +5 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (M1028I +5 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (I1042T +5 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (E1008A +5 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder | |