| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC121627953, LOC121627954 +411 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | TRABD, TRABD-AS1 +338 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067779, LOC130067780 +281 more | Deletion | Phelan-McDermid syndrome | |
| | LOC126863185, LOC126863186 +282 more | Deletion | Phelan-McDermid syndrome | |
| | LOC126863188, LOC129391286 +228 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC130067774, LOC130067775 +221 more | Deletion | Phelan-McDermid syndrome | |
| | LOC130067781, LOC130067782 +221 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC126863183, LOC126863184 +207 more | Deletion | Phelan-McDermid syndrome | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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