| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | LAMA2, LOC126859784 (N2767fs +1 more) | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Deletion (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Merosin deficient congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | LOC123864065, LAMA2 (K2049fs) | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | LAMA2, LOC123864065 (V2083fs) | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Indel (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | LAMA2, LOC123864065 (K2078*) | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Indel (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Duplication (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Microsatellite (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Indel (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Indel (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Microsatellite (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Insertion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Deletion (frameshift variant) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy, limb-girdle, autosomal recessive 23 +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Insertion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Indel (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Microsatellite (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Deletion (frameshift variant) | Merosin deficient congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | Merosin deficient congenital muscular dystrophy +1 more | |