Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Multiple mitochondrial dysfunctions syndrome 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multiple mitochondrial dysfunctions syndrome 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multiple mitochondrial dysfunctions syndrome 4 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multiple mitochondrial dysfunctions syndrome 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Multiple mitochondrial dysfunctions syndrome 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Deletion (frameshift variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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