| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CRPPA, LOC129998005 (T27P) | Single nucleotide variant (missense variant +1 more) | Congenital Muscular Dystrophy, alpha-dystroglycan related +5 more | GConflicting classifications of pathogenicity |
| | CRPPA, LOC129998005 (G23C) | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | LOC129998005, CRPPA (S19R) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
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