| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | AGRN, LOC129929078 (V1727F +1 more) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | 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 (5 prime UTR variant +1 more) | Cerebral palsy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Left ventricular noncompaction 8 +2 more | |
| | | Deletion (inframe_deletion) | Left ventricular noncompaction 8 | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis | |
| | | Single nucleotide variant (missense variant) | Usher syndrome, type 1M +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_indel +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate C +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (inframe_insertion +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more | |
| | LOC126805598, PLEKHG5 (R45H +2 more) | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe_insertion) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | PIK3CD-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | methotrexate response - Toxicity | |
| | LOC114827827, NPPA +1 more (S64R) | Single nucleotide variant (missense variant) | Atrial fibrillation, familial, 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Duplication | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +21 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +4 more | GPathogenic/Likely pathogenic |