| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932930, LOC129932931 +967 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932675, LOC129932676 +952 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932908, LOC129932909 +270 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | 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 loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SNORA100, SPMIP3 +274 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LOC128598893, LOC128598894 +273 more | Copy number gain | See cases | |
| | LOC122152349, LOC122152350 +272 more | 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 | |
| | LOC129932970, LOC129932971 +253 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC122152355, LOC122152356 +230 more | Copy number gain | See cases | |
| | LINC01743, LINC02774 +235 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | 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 loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | COX20-related condition +1 more | |
| | | Duplication (inframe_insertion +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified | |
| | COX20, LOC129932912 (E11K) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC129932912, COX20 (K14R) | Single nucleotide variant (missense variant +2 more) | COX20-related condition +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Mitochondrial complex 4 deficiency, nuclear type 11 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (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 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | HNRNPU-AS1, COX20 (F21L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | HNRNPU-AS1, COX20 (A30T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | COX20, HNRNPU-AS1 (Y36C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | COX20, HNRNPU-AS1 (G37S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | COX20, HNRNPU-AS1 (T52P +1 more) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 4 deficiency, nuclear type 11 | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 4 deficiency, nuclear type 11 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | COX20-related condition | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex 4 deficiency, nuclear type 11 | |