| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Abnormal brain morphology | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Epilepsy, idiopathic generalized, susceptibility to, 10 | |
| | | Single nucleotide variant (missense variant) | Epilepsy, idiopathic generalized, susceptibility to, 10 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | |
| | | Duplication (inframe_insertion) | Shprintzen-Goldberg syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6B | |
| | | Single nucleotide variant (missense variant) | PRDM16-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Wolff-Parkinson-White pattern | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +5 more | |
| | | Single nucleotide variant (missense variant) | CHD5-related Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | CHD5-associated Neurodevelopmental disorder | |
| | | Single nucleotide variant (intron variant) | Harel-Yoon syndrome | |
| | | Single nucleotide variant (nonsense) | Global developmental delay | |
| | | Single nucleotide variant (nonsense) | Seizure | |
| | | Single nucleotide variant (missense variant) | Global developmental delay | |
| | | Duplication | not provided | |
| | | Deletion (nonsense) | Hearing loss, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities | |
| | | Single nucleotide variant (splice acceptor variant) | Advanced sleep phase syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 9 | |
| | | Deletion | Leber congenital amaurosis 9 | |
| | | Deletion | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Deletion (frameshift variant) | Leber congenital amaurosis 9 +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (splice donor variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | KIF1B, LOC126805614 (P848L +1 more) | Single nucleotide variant (missense variant) | Intellectual disability | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency due to MASP-2 deficiency | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Microsatellite (inframe_deletion) | Infantile spasms +4 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |