Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV | |
| | | Single nucleotide variant (intron variant) | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease IV, classic hepatic +3 more | GPathogenic/Likely pathogenic |
| | | Deletion | Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type IV +1 more | |
| | | Deletion | Glycogen storage disease, type IV +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Glycogen storage disease, type IV +1 more | |
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