| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC105372493, LOC105372524 +579 more | Copy number gain | See cases | |
| | LOC126863004, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC128706666, LOC130065416 +23 more | Deletion | Alagille syndrome due to a JAG1 point mutation | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Microsatellite (inframe_deletion) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Deletion (inframe_deletion) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Microsatellite (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant | SNAP25-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (splice donor variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 18 | |
| | | Duplication (inframe_insertion) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant) | Unilateral Hypotonia +4 more | |
| | | Single nucleotide variant (missense variant) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +1 more) | Presynaptic congenital myasthenic syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 18 | |
| | | Single nucleotide variant (missense variant +1 more) | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital myasthenic syndrome 18 | |