| | | Duplication | Autism +1 more | |
| | | Copy number loss | See cases | |
| | LOC130067918, LOC130067919 +2633 more | Copy number loss | See cases | |
| | LOC130068528, LOC130068529 +2634 more | Copy number gain | See cases | |
| | ARMCX5, ARMCX5-GPRASP2 +2634 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068308, LOC130068309 +2634 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863325, LOC126863326 +2633 more | Copy number gain | See cases | |
| | LOC130068075, LOC130068076 +2633 more | Copy number loss | See cases | |
| | LOC130068153, LOC130068154 +1933 more | Copy number loss | See cases | |
| | LOC130068278, LOC130068279 +2633 more | Copy number loss | See cases | |
| | LOC130068310, LOC130068311 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC107988022, LOC107988024 +2629 more | Copy number loss | See cases | |
| | LOC130067944, LOC130067945 +2629 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067929, LOC130067930 +2633 more | Copy number gain | See cases | |
| | LOC130068219, LOC130068220 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863224, LOC126863225 +2632 more | Copy number gain | See cases | |
| | LOC121627971, LOC121627972 +2633 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863244, LOC126863245 +2633 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068098, LOC130068099 +2633 more | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number gain | See cases | |
| | LOC126863315, LOC126863316 +2633 more | Copy number gain | See cases | |
| | LOC130068055, LOC130068056 +2612 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068417, LOC130068418 +2599 more | Copy number gain | Klinefelter syndrome | |
| | LOC130068152, LOC130068153 +2594 more | Copy number gain | See cases | |
| | LOC130068468, LOC130068469 +2594 more | Copy number gain | See cases | |
| | LOC130067984, LOC130067985 +2596 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068242, LOC130068243 +2103 more | Copy number loss | See cases | |
| | LOC126863280, LOC126863281 +2099 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068612, LOC130068613 +1467 more | Copy number gain | See cases | |
| | LOC126863288, LOC126863289 +1466 more | Copy number gain | See cases | |
| | LOC130068438, LOC130068439 +1464 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068496, LOC130068497 +1244 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863325, LOC126863326 +1225 more | Copy number loss | See cases | |
| | LOC130068537, LOC130068538 +1206 more | Copy number loss | See cases | |
| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863293, LOC126863294 +478 more | Copy number gain | See cases | |
| | LOC130068661, LOC130068662 +1181 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068480, LOC130068481 +1169 more | Copy number gain | See cases | |
| | LOC101927830, LOC101928335 +1159 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863349, LOC129391309 +1143 more | Copy number gain | See cases | |
| | LOC121627985, LOC121627986 +1141 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MAGEA8-AS1, MAGEA9 +1075 more | Copy number loss | See cases | |
| | LOC130068847, LOC130068848 +1002 more | Copy number loss | See cases | |
| | LOC130068862, LOC130068863 +1001 more | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MAGEA10, MAGEA11 +820 more | Copy number loss | See cases | |
| | LOC130068630, LOC130068631 +16 more | Duplication | Xq25 microduplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | DCAF12L1, DCAF12L2 +18 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant | X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more | |
| | | Single nucleotide variant | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | X-linked lymphoproliferative disease due to SH2D1A deficiency | |
| | | Single nucleotide variant (missense variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | X-linked lymphoproliferative disease due to SH2D1A deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | X-linked lymphoproliferative syndrome | |