| | LOC130066574, LOC130066575 +1159 more | Copy number gain | See cases | |
| | LOC130066796, LOC130066797 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066513, LOC130066514 +1160 more | Copy number gain | See cases | |
| | LOC126653326, LOC126653327 +1160 more | Copy number gain | See cases | |
| | LOC130066833, LOC130066834 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066700, LOC130066701 +1159 more | Copy number gain | See cases | |
| | LOC130066665, LOC130066666 +1160 more | Copy number gain | See cases | |
| | LOC126653316, LOC126653317 +1160 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066758, LOC130066759 +1159 more | Copy number gain | See cases | |
| | LOC130066436, LOC130066437 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | KRTAP13-3, KRTAP13-4 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066541, LOC130066542 +1159 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066593, LOC130066594 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066830, LOC130066831 +1155 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129391220, LOC129391221 +1156 more | Copy number loss | See cases | |
| | LOC130066733, LOC130066734 +643 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066879, LOC130066880 +568 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066848, LOC130066849 +482 more | Copy number loss | See cases | |
| | LOC108254685, LOC108281139 +429 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066823, LOC130066824 +376 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066810, LOC130066811 +334 more | Copy number loss | See cases | |
| | LOC130066817, LOC130066818 +276 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Autism | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066868, LOC130066869 +52 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (D1976N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (A1973V) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (A1973P) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (E1968G) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (S1960*) | Single nucleotide variant (nonsense) | not provided | |
| | MCM3AP, MCM3AP-AS1 (S1959G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MCM3AP, MCM3AP-AS1 (R1958Q) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP-AS1, MCM3AP (R1958W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (L1950V) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (R1949P) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP-AS1, MCM3AP (R1949*) | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (T1944M) | Single nucleotide variant (missense variant) | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development +1 more | |
| | MCM3AP, MCM3AP-AS1 (T1944P) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (T1944A) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (G1943E) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP-AS1, MCM3AP (G1943R) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (T1942K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (L1938P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (R1933del) | Deletion (inframe_deletion) | not provided | |
| | MCM3AP-AS1, MCM3AP (R1933K) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (S1926I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | MCM3AP, MCM3AP-AS1 (S1926G) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | MCM3AP, MCM3AP-AS1 (T1924A) | Single nucleotide variant (missense variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (V1923fs) | Deletion (frameshift variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (S1922F) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | MCM3AP, MCM3AP-AS1 (S1922fs) | Duplication (frameshift variant) | not provided | |