| | LOC130008916, LOC130008917 +4836 more | Copy number gain | See cases | |
| | TRD-GTC2-10, TRD-GTC2-9 +906 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | HNF1A, HNF1A-AS1 +786 more | 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 | |
| | LOC129390584, LOC130009080 +45 more | Copy number gain | Autism spectrum disorder | |
| | | Single nucleotide variant (genic upstream transcript variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (genic upstream transcript variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (genic upstream transcript variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (genic upstream transcript variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (5 prime UTR variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (splice acceptor variant +2 more) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | MTRFR-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Deletion (frameshift variant) | Hereditary motor and sensory neuropathy with optic atrophy | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Duplication (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Indel (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 55 | |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Microsatellite (inframe_deletion) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Insertion (frameshift variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 55 | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation defect type 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hereditary spastic paraplegia 55 | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | Combined oxidative phosphorylation defect type 7 +2 more | |
| | | Microsatellite (intron variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Microsatellite (intron variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spastic paraplegia +3 more | |
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation defect type 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +1 more | |