| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058727, LOC130058728 +287 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | GUncertain significance; Pathogenic/Likely pathogenic |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number loss | See cases | |
| | CDR2-DT, LOC105371129 +35 more | Copy number loss | See cases | |
| | LOC130058635, LOC130058646 +35 more | Duplication | Schizophrenia | |
| | LOC130058632, LOC130058633 +35 more | Duplication | Autism | |
| | | Deletion | Schizophrenia | |
| | | Copy number loss | See cases | |
| | LOC130058643, LOC130058644 +35 more | Deletion | Chromosome 16p12.1 deletion syndrome, 520kb | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | Gconflicting data from submitters |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex III deficiency nuclear type 5 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | UQCRC2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 5 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | UQCRC2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | UQCRC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 5 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | UQCRC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | UQCRC2-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |