| | | Copy number loss | See cases | |
| | LOC129994513, LOC129994514 +200 more | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACSL6, ACSL6-AS1 +263 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GDF9, LOC126807509 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | GDF9, LOC126807509 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 specified | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex III deficiency nuclear type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | UQCRQ-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex III deficiency nuclear type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC126807509, UQCRQ (T32I) | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | LOC126807509, UQCRQ (G34V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | LOC126807509, UQCRQ (N37S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807509, UQCRQ (N37T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807509, UQCRQ (V38D) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807509, UQCRQ (L39R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807509, UQCRQ (S45F) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126807509, UQCRQ (R48C) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126807509, UQCRQ (V49fs) | Deletion (frameshift variant) | not provided | |
| | LOC126807509, UQCRQ (P51R) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Deletion (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Single nucleotide variant (3 prime UTR variant) | Mitochondrial complex III deficiency nuclear type 4 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Houge-Janssens syndrome 3 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Blepharophimosis +5 more | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |