| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense +4 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | POMT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +3 more) | POMT1-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | POMT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | POMT1-related disorder | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Insertion (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (frameshift variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Indel (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +4 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Deletion (frameshift variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (nonsense +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Duplication (non-coding transcript variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +2 more | |