| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | LOC126860732, LOC126860733 +514 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | PALM2AKAP2, PAPPA +377 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (genic upstream transcript variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital myasthenic syndrome 9 | |
| | LOC126860730, LOC124310625 +1 more | Deletion | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Duplication (frameshift variant) | Fetal akinesia deformation sequence 1 | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Fetal akinesia deformation sequence 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Microsatellite (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion (frameshift variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Congenital myasthenic syndrome 9 | |