| | | 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 | |
| | LOC130068369, LOC130068370 +1399 more | Copy number gain | 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 | |
| | LOC130067920, LOC130067921 +1476 more | Copy number loss | See cases | |
| | LOC126863242, LOC126863243 +1629 more | Copy number loss | 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 | |
| | | 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 | |
| | LOC125467739, LOC125467740 +1494 more | Copy number loss | 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 | |
| | LOC130068457, LOC130068458 +824 more | 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 gain | See cases | |
| | LOC130068612, LOC130068613 +1467 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863288, LOC126863289 +1466 more | Copy number gain | See cases | |
| | LOC130068438, LOC130068439 +1464 more | Copy number loss | See cases | |
| | | Duplication | Xq13q21 duplication | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068418, LOC130068419 +44 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130068415, LOC130068416 +2 more | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (genic upstream transcript 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Intellectual disability, X-linked, syndromic 33 +1 more | GLikely pathogenic; association |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC130068417, TAF1 (S17del) | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |