| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion (frameshift variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Inversion (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Indel (missense variant +1 more) | not provided +1 more | |
| | | Deletion (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Insertion (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion (frameshift variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | LOC108281127, LOC113839508 +93 more | Duplication | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Indel (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion (frameshift variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | GConflicting classifications of pathogenicity |