| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090296, LOC132090297 +1422 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056647, LOC130056648 +1203 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Duplication (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Microsatellite (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Duplication | Neuropathy, hereditary sensory and autonomic, type 1C | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (3 prime UTR variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (stop lost) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2N +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | POMT2-related disorder +3 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 +2 more | |
| | | Deletion (frameshift variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | GConflicting classifications of pathogenicity |