| | | 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 | |
| | LOC130067965, LOC130067966 +920 more | Copy number loss | See cases | |
| | LOC130068369, LOC130068370 +1399 more | Copy number gain | See cases | |
| | LOC130067939, LOC130067940 +1014 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067922, LOC130067923 +819 more | Copy number loss | See cases | |
| | LOC130068061, LOC130068062 +1023 more | Copy number loss | See cases | |
| | LOC130068308, LOC130068309 +2634 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC121627970, LOC121627971 +1042 more | Copy number loss | See cases | |
| | LOC126863325, LOC126863326 +2633 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067920, LOC130067921 +1476 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863242, LOC126863243 +1629 more | Copy number loss | See cases | |
| | LOC130068348, LOC130068349 +1164 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068042, LOC130068043 +910 more | Copy number loss | See cases | |
| | LOC130068075, LOC130068076 +2633 more | Copy number loss | See cases | |
| | LOC130068153, LOC130068154 +1933 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130068278, LOC130068279 +2633 more | Copy number loss | See cases | |
| | LOC130068310, LOC130068311 +2633 more | Copy number gain | See cases | |
| | LOC130068203, LOC130068204 +1025 more | Copy number loss | 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 | |
| | | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067990, LOC130067991 +1217 more | Copy number loss | See cases | |
| | | Copy number loss | 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 | |
| | | Copy number loss | See cases | |
| | LOC125467739, LOC125467740 +1494 more | Copy number loss | See cases | |
| | LOC129391299, LOC130067890 +709 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 | |
| | | Copy number loss | 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 | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | History of neurodevelopmental disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Exudative vitreoretinopathy 2, X-linked | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria | |
| | | Duplication (non-coding transcript variant +1 more) | Atrophia bulborum hereditaria +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |
| | | Duplication (non-coding transcript variant +1 more) | not provided | |