Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Microsatellite (inframe_deletion) | Mitochondrial complex III deficiency nuclear type 8 +1 more | |
| | | Deletion (3 prime UTR variant +2 more) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex III deficiency nuclear type 8 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Single nucleotide variant (intron variant +1 more) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Microsatellite (inframe_insertion +1 more) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Duplication (intron variant) | Mitochondrial complex III deficiency nuclear type 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex III deficiency nuclear type 8 | |
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