| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | ADORA2A, ADORA2A-AS1 +823 more | Copy number gain | See cases | |
| | LOC130067187, LOC130067188 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LARGE1, LOC125446220 +1 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Duplication (3 prime UTR variant) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Microsatellite (inframe_deletion) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_indel) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy type B6 | |
| | | Single nucleotide variant (intron variant) | not provided | |