| | LOC107303340, VHL (R161* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Deletion (5 prime UTR variant +3 more) | Familial infantile myasthenia +1 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | Familial infantile myasthenia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Microsatellite (intron variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (5 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (synonymous variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Microsatellite (intron variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +2 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Microsatellite (splice donor variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (intron variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Familial infantile myasthenia | |