| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Microsatellite (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Single nucleotide variant (splice acceptor variant) | Mitochondrial complex 1 deficiency, nuclear type 9 +1 more | |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 9 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex 1 deficiency, nuclear type 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Mitochondrial complex 1 deficiency, nuclear type 9 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 9 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 9 +1 more | |
| | | Copy number loss | 5p partial monosomy syndrome | |
| | | Copy number loss | 5p partial monosomy syndrome | |