| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant | not provided | |
| | | Duplication | Walker-Warburg congenital muscular dystrophy | |
| | | Duplication | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 1X | |
| | | Indel (frameshift variant +1 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (nonsense +1 more) | Dilated cardiomyopathy 1X | |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 1X | |
| | | Single nucleotide variant (nonsense +1 more) | Dilated cardiomyopathy 1X | |
| | | Deletion (frameshift variant +2 more) | Dilated cardiomyopathy 1X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | FKTN-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion (frameshift variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Insertion (frameshift variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (nonsense +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | 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 (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Duplication (frameshift variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Microsatellite (frameshift variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Walker-Warburg congenital muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Walker-Warburg congenital muscular dystrophy | |