| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002066, CENPP +11 more | Copy number gain | See cases | |
| | | Copy number loss | Premature ovarian failure | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | CENPP-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | CENPP-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CENPP, OGN (R264W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (H222R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (K133Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (A180T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (P176A +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (P139L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (A136V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, OGN (N125K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ASPN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | ASPN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | ASPN-related disorder | |
| | | Microsatellite (inframe insertion +1 more) | CENPP-related disorder | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Microsatellite (frameshift variant +1 more) | CENPP-related disorder +1 more | |
| | | Microsatellite (no sequence alteration +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | ASPN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ASPN-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (S679F +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R622C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (L611R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (Q628K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (Y582C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R600H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (D595E +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R548W +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (P529L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (K498R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (I511T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (H485Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (T501I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (I465T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (P458L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (L449P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R448S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (L466P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (D408N +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (A428V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (M396L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (P337T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (A356T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (S332P +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (P339L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R293H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (V293I +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (E289Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (D252H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R244C +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (R237K +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CENPP, ECM2 (E256V +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |