Links from MedGen
Items: 17
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Optic atrophy 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Optic atrophy 5 +2 more | |
| | | Duplication (frameshift variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Myopathy, lactic acidosis, and sideroblastic anemia +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 +4 more | |
| | | Deletion (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
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