| | | Single nucleotide variant (splice acceptor variant) | Phelan-McDermid syndrome | |
| | | Insertion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome +1 more | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | CHKB, LOC112695108 +404 more | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number gain | Phelan-McDermid syndrome | |
| | | Single nucleotide variant | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Microsatellite (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Schizophrenia 15 +1 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Microsatellite (frameshift variant) | Phelan-McDermid syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (splice donor variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Duplication (nonsense +1 more) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Deletion (intron variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Insertion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Schizophrenia 15 +1 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Phelan-McDermid syndrome | |
| | | Duplication (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Deletion (splice donor variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Phelan-McDermid syndrome | |
| | | Copy number loss | Phelan-McDermid syndrome | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (nonsense) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | LOC126863188, SHANK3 (R624P) | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Phelan-McDermid syndrome +1 more | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome +1 more | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome +2 more | |
| | | 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 | |