| | | Duplication (splice donor variant) | Congenital myasthenic syndrome 4B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 4A +2 more | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital myasthenic syndrome 10 +2 more | |
| | | Single nucleotide variant (nonsense) | not specified +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome | |
| | | Indel (frameshift variant) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fetal akinesia deformation sequence 3 +4 more | |
| | | Deletion | Congenital myasthenic syndrome | |
| | C17orf107, CHRNE (E151del) | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Deletion (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 11 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 12 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | CHRNE, LOC130060041 (A365T) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | CHRNE, LOC130060040 (E383del) | Microsatellite (inframe_deletion) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | CHRNE, LOC130060041 (L350P) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital myasthenic syndrome 4A | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 4A | |
| | CHRNE, LOC130060041 (P351S) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 4A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal multiple pterygium syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Lethal multiple pterygium syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | CHRND-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome +1 more | GConflicting classifications of pathogenicity |