Links from Orgtrack
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | GConflicting classifications of pathogenicity |
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