| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | LOC130067673, LOC130067674 +580 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067881, LOC130067882 +523 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130067875, LOC130067876 +502 more | Copy number gain | See cases | |
| | LOC132090656, LOC132090657 +495 more | Copy number gain | See cases | |
| | LOC130067636, LOC130067637 +492 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | LOC126863178, LOC126863179 +451 more | 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 | |
| | LOC130067877, LOC130067878 +401 more | Copy number loss | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | 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 | |
| | | 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 gain | See cases | |
| | MIRLET7BHG, MLC1 +315 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Phelan-McDermid syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Microsatellite | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | Aminoglycoside-induced deafness +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TRMU-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Duplication (frameshift variant +3 more) | Aminoglycoside-induced deafness | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | TRMU-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Indel (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | TRMU-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Aminoglycoside-induced deafness +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Aminoglycoside-induced deafness +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |