| | ARMCX3, CT47A11 +2631 more | Duplication | Autism +1 more | |
| | | Copy number loss | See cases | |
| | LOC130068194, LOC130068195 +2632 more | Copy number loss | See cases | |
| | LOC126863191, LOC126863192 +2633 more | Copy number gain | See cases | |
| | LOC130068432, LOC130068433 +2633 more | Copy number loss | See cases | |
| | LOC130068031, LOC130068032 +2633 more | Copy number gain | See cases | |
| | LOC110120594, LOC110120595 +2633 more | Copy number loss | See cases | |
| | LOC130067964, LOC130067965 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC119407398, LOC119407399 +2632 more | Copy number loss | See cases | |
| | FAM223B, FAM226A +2628 more | Copy number loss | See cases | |
| | LOC126863207, LOC126863208 +2628 more | Copy number gain | See cases | |
| | LOC130068458, LOC130068459 +2633 more | Copy number gain | See cases | |
| | LOC113875011, LOC113875012 +2633 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068362, LOC130068363 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068054, LOC130068055 +2631 more | Copy number loss | See cases | |
| | LOC126863302, LOC126863303 +2631 more | Copy number gain | See cases | |
| | LOC119407406, LOC119407407 +2632 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863301, LOC126863302 +2632 more | Copy number gain | See cases | |
| | LOC130067921, LOC130067922 +1798 more | Copy number gain | See cases | |
| | LOC126863205, LOC126863206 +2632 more | Copy number gain | See cases | |
| | LOC107985687, LOC107988021 +2632 more | Copy number loss | See cases | Gconflicting data from submitters |
| | LOC130067947, LOC130067948 +2632 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863296, LOC126863297 +2593 more | Copy number gain | See cases | |
| | LOC130068368, LOC130068369 +2593 more | Copy number gain | See cases | |
| | LOC130067891, LOC130067892 +2595 more | Copy number gain | See cases | |
| | LOC130068100, LOC130068101 +2585 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC113875008, LOC113875009 +1467 more | Copy number gain | See cases | |
| | LOC130068588, LOC130068589 +1467 more | Copy number gain | See cases | |
| | LOC116309158, LOC116309159 +1466 more | Copy number gain | See cases | |
| | GPRASP2, GPRASP3 +1464 more | Copy number loss | See cases | |
| | LOC130068848, LOC130068849 +1254 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | DNAAF6, DNASE1L1 +1244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068886, LOC130068887 +1230 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | LOC113875015, LOC113875016 +1197 more | Copy number loss | See cases | |
| | CT45A10, CT45A2 +1193 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863293, LOC126863294 +478 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068516, LOC130068517 +1180 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068676, LOC130068677 +1152 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068811, LOC130068812 +1141 more | Copy number gain | See cases | |
| | LOC130068857, LOC130068858 +1123 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068686, LOC130068687 +1075 more | Copy number loss | See cases | |
| | LOC130068697, LOC130068698 +1002 more | Copy number loss | See cases | |
| | LOC130068869, LOC130068870 +1001 more | Copy number loss | See cases | |
| | PLXNB3-AS1, PNCK +996 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC101928335, MID2 (M263T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101928335, MID2 (V270I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC101928335, MID2 (V331I) | Single nucleotide variant (missense variant) | not provided | |
| | LOC101928335, MID2 (N343S) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC101928335, MID2 (R347Q) | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 101 | |
| | | Deletion (intron variant) | not specified +1 more | |
| | LOC101928335, MID2 (A344S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 101 | |
| | LOC101928335, MID2 (L349P +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 101 | |
| | | Indel (missense variant) | Intellectual disability, X-linked 101 | |
| | MID2, LOC101928335 (L384V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC101928335, MID2 (S386Y +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MID2-related condition | |
| | LOC101928335, MID2 (R452G +1 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, X-linked 101 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | LOC101928335, MID2 (R458* +1 more) | Single nucleotide variant (nonsense +1 more) | Intellectual disability, X-linked 101 | |
| | | Single nucleotide variant (splice donor variant +1 more) | not specified | |
| | LOC101928335, MID2 (S453fs +1 more) | Deletion (frameshift variant) | Intellectual disability, X-linked 101 | |
| | LOC101928335, MID2 (G520S +1 more) | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 101 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |