| | KLHDC7B, LOC130067877 (R911C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (G838E) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (L823F) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (G808S) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (G804S) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (R774L) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (Q738P) | 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 gain | 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 gain | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (G834R) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Chromosome 22q13 duplication syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | KLHDC7B, LOC130067876 (G832D) | 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 | |
| | KLHDC7B, LOC130067876 (S805N) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (R840Q) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (K822N) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (V836G) | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (V835G) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (V836M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | KLHDC7B, LOC130067876 (K816T) | 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 | |
| | KLHDC7B, LOC130067876 (M741L) | 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 | |
| | | Deletion | Megaconial type congenital muscular dystrophy | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | ALG12-congenital disorder of glycosylation | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | 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 | |