| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant +1 more) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Deletion (splice donor variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant) | Multiple mitochondrial dysfunctions syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Microcephaly | |
| | | 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 |
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