| | 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 | |
| | LOC130067853, LOC130067854 +117 more | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | NCAPH2, SCO2 +1 more (A259V) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more | GConflicting classifications of pathogenicity |
| | TYMP, NCAPH2 +1 more (R20P) | Single nucleotide variant (3 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +6 more | |
| | LOC130067861, SCO2 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more | |
| | LOC130067861, SCO2 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +4 more | |
| | | Duplication (5 prime UTR variant +1 more) | Mitochondrial complex IV deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | TYMP-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Mitochondrial DNA depletion syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | SCO2, TYMP (Q482* +1 more) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | SCO2, TYMP (Q481* +1 more) | Single nucleotide variant (nonsense +1 more) | Mitochondrial DNA depletion syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (P480R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (P485A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more (L478fs +1 more) | Duplication (frameshift variant +1 more) | Mitochondrial DNA depletion syndrome 1 | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | TYMP, SCO2 +1 more (V477I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | TYMP, LOC130067862 +1 more (A474V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TYMP, LOC130067862 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130067862, SCO2 +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |