| | | Single nucleotide variant (synonymous variant) | SHANK3-related disorder +1 more | |
| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863184, LOC126863185 +541 more | Copy number gain | See cases | |
| | LOC126863187, LOC126863188 +523 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126863187, LOC126863188 +495 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067640, LOC130067641 +483 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC121627953, LOC121627954 +411 more | Deletion | Phelan-McDermid syndrome | |
| | CHKB, LOC112695108 +404 more | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067697, LOC130067698 +396 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | TRABD, TRABD-AS1 +338 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067809, LOC130067810 +288 more | Copy number loss | See cases | |
| | LOC130067779, LOC130067780 +281 more | Deletion | Phelan-McDermid syndrome | |
| | LOC126863185, LOC126863186 +282 more | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | LOC130067846, LOC130067847 +240 more | Copy number loss | See cases | |
| | LOC126863173, LOC126863174 +235 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126863188, LOC129391286 +228 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067774, LOC130067775 +221 more | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | LOC130067781, LOC130067782 +221 more | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC126863183, LOC126863184 +207 more | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC121853048, LOC125446259 +184 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | ACR, LOC130067783 +166 more | Duplication | Chromosome 22q13 duplication syndrome | |
| | | 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 | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Microsatellite (no sequence alteration) | not provided | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | SHANK3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |