| | | Copy number gain | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932855, LOC129932856 +1168 more | Copy number gain | See cases | |
| | ACBD3, ACBD3-AS1 +287 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LINC02765, LINC02768 +955 more | Copy number gain | See cases | |
| | LOC440742, LYPD8 +955 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129932825, LOC129932826 +952 more | Copy number gain | See cases | |
| | LOC129932658, LOC129932659 +950 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806053, LOC126806054 +870 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Deletion (frameshift variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | IBA57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | IBA57-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | IBA57-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 74 | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 74 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 74 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Duplication (frameshift variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple mitochondrial dysfunctions syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +2 more | |
| | | Indel (missense variant) | not provided | |
| | | Insertion (frameshift variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Deletion (frameshift variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (synonymous variant) | Hereditary spastic paraplegia 74 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |