| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Duplication (frameshift variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Indel (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Deletion (frameshift variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Indel (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Indel (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +7 more | |
| | | Single nucleotide variant (missense variant +3 more) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +5 more | |
| | | Indel (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Walker-Warburg congenital muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 1X +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Deletion (inframe_deletion +2 more) | Walker-Warburg congenital muscular dystrophy +5 more | |
| | | Single nucleotide variant (missense variant +3 more) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (nonsense +1 more) | Walker-Warburg congenital muscular dystrophy +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 1X +2 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +7 more | |
| | | Duplication (frameshift variant +3 more) | not provided +7 more | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Deletion (frameshift variant +3 more) | Walker-Warburg congenital muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Dilated cardiomyopathy 1X +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (nonsense +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Walker-Warburg congenital muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Deletion (inframe_deletion +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more | GConflicting classifications of pathogenicity |