| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (intron variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (intron variant +1 more) | Glycogen phosphorylase kinase deficiency | |
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