| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CRPPA, CRPPA-AS1 (I406M +2 more) | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | CRPPA, LOC129998005 (A24P) | Single nucleotide variant (missense variant +1 more) | not provided | |
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