| | DENND6B, LOC130067845 (V329M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DENND6B, LOC130067846 (G25R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DENND6B, LOC130067846 (A19P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DENND6B, LOC130067846 (R11Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | CHKB, LOC112695108 +404 more | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | DENND6B, LOC130067846 (L54Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Chromosome 22q13 duplication syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | DENND6B, LOC130067846 (L5S) | Single nucleotide variant (missense variant) | not specified | |
| | DENND6B, LOC130067846 (P21L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | ACR, LOC130067783 +166 more | Duplication | Chromosome 22q13 duplication syndrome | |
| | LOC130067853, LOC130067854 +117 more | Duplication | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | ALG12-congenital disorder of glycosylation | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | ALG12-congenital disorder of glycosylation | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC121627953, LOC121627954 +411 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067779, LOC130067780 +281 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC126863185, LOC126863186 +282 more | Deletion | Phelan-McDermid syndrome | |
| | LOC126863188, LOC129391286 +228 more | Deletion | Phelan-McDermid syndrome | |
| | LOC126863183, LOC126863184 +207 more | Deletion | Phelan-McDermid syndrome | |
| | LOC130067774, LOC130067775 +221 more | Deletion | Phelan-McDermid syndrome | |
| | TRABD, TRABD-AS1 +338 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067781, LOC130067782 +221 more | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | 22q13.3 interstitial deletion | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |