| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126860732, LOC126860733 +514 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Weiss-kruszka syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2M +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided +2 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 (5 prime UTR variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant +2 more) | Dilated Cardiomyopathy, Recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +1 more | |
| | | Duplication | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 +2 more | |
| | | Deletion (frameshift variant +2 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense +2 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Dilated cardiomyopathy 1X +7 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | 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 (synonymous variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Duplication (frameshift variant +2 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Walker-Warburg congenital muscular dystrophy +1 more | |