Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Danon disease | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A | |
| | | Single nucleotide variant (missense variant) | not provided | |
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