| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (G213A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P212R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (Q178L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (A175G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P173L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P170R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P202S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (A168V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (A168P +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (R199L +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P217R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P155S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (P129A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (G119R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (C146G +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (A144T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (V121M +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | HES4, LOC129929069 (E88D +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Inversion (missense variant) | Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | ISG15-related disorder | |
| | | Deletion (inframe_deletion) | Congenital myasthenic syndrome 8 | |
| | | Duplication (inframe_insertion) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Microsatellite (frameshift variant) | Congenital myasthenic syndrome 8 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Microsatellite (intron variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | AGRN, LOC129929078 (R1734H +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | AGRN-related disorder +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |