| | LOC129933244, LOC129933245 +653 more | Copy number gain | See cases | |
| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | LOC129933186, LOC129933187 +736 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TRY-GTA2-1, UBXN2A +321 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | ADCY3-related disorder | |
| | | Duplication (no sequence alteration +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (T1135I +4 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ADCY3, CENPO (V1088I +4 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | ADCY3-related disorder +1 more | |
| | ADCY3, CENPO (F1118del +4 more) | Microsatellite (inframe_deletion +2 more) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | |
| | ADCY3, CENPO (F1140V +4 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ADCY3, CENPO (I1107fs +4 more) | Deletion (frameshift variant +2 more) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | |
| | | 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 | |
| | ADCY3, CENPO (G1051S +4 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | ADCY3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | ADCY3, CENPO (M1034T +5 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | 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 (T1031M +5 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | 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) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ADCY3, CENPO (I1042T +5 more) | Single nucleotide variant (missense variant +2 more) | ADCY3-related disorder | |
| | ADCY3, CENPO (R1041H +5 more) | Single nucleotide variant (missense variant +2 more) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | |
| | | 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 | |
| | ADCY3, CENPO (D1019N +5 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | ADCY3-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | ADCY3-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | ADCY3-related disorder | |