| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CRPPA, LOC129998005 (T27P) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | CRPPA, LOC129998005 (G23C) | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more | |
| | CRPPA, LOC129998005 (S19fs) | Indel (frameshift variant +1 more) | not provided +1 more | |
| | CRPPA, LOC129998005 (S19R) | Single nucleotide variant (missense variant +1 more) | not specified +4 more | |
| | CRPPA, LOC129998005 (S19fs) | Duplication (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more | |
| | CRPPA, LOC129998005 (P11R) | Single nucleotide variant (missense variant +1 more) | Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
Click to view in NCBI Gene