| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CRPPA, LOC129998005 (T38I) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CRPPA, LOC129998005 (T27P) | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +5 more | GConflicting classifications of pathogenicity |
| | CRPPA, LOC129998005 (S19fs) | Duplication (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | CRPPA, LOC129998005 (G15V) | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene