Links from Orgtrack
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 | |
| | | Duplication (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Megaconial type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Megaconial type congenital muscular dystrophy | |
| | | Duplication (frameshift variant +1 more) | Megaconial type congenital muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Megaconial type congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder +3 more | GConflicting classifications of pathogenicity |
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