| | LOC126860768, LOC126860769 +3785 more | Copy number gain | See cases | |
| | LOC124310660, LOC124310661 +3784 more | Copy number gain | See cases | |
| | LOC111413024, LOC111413033 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116216098, LOC116216099 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860765, LOC126860766 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003073, LOC130003074 +1268 more | Copy number gain | See cases | |
| | LOC130002603, LOC130002604 +1210 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130002656, LOC130002657 +93 more | Duplication | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | LOC130002653, LOC130002654 +130 more | Deletion | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | 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 (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 (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 (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 +1 more) | not specified +1 more | |
| | | Inversion (missense variant +1 more) | 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 (non-coding transcript variant +1 more) | not specified +1 more | |
| | | 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 (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 | GConflicting classifications of pathogenicity |
| | | Insertion (intron variant) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (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 (synonymous variant +1 more) | not specified +1 more | |
| | | 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 +1 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Indel (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense 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) | not specified | |
| | | 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 (synonymous 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 |
| | | Deletion (frameshift variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (synonymous variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion (non-coding transcript 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 | |
| | | Single nucleotide variant (missense 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 (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 (non-coding transcript variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Deletion (intron variant +1 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (intron 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 (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 (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (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 | |
| | | Single nucleotide variant (missense variant +2 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 (synonymous variant +2 more) | 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 (missense variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Deletion (frameshift variant +2 more) | Congenital muscular dystrophy with intellectual disability and severe epilepsy | GConflicting classifications of pathogenicity |