| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 | |
| | | Indel (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Neuronopathy, distal hereditary motor, autosomal recessive 7 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Intellectual disability, autosomal dominant 42 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Peroxisome biogenesis disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder +4 more | |
| | | Deletion (frameshift variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +4 more | |
| | | Deletion (frameshift variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder 6A (Zellweger) +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Senior-Loken syndrome 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Nephronophthisis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease recessive intermediate C +3 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +1 more | GConflicting classifications of pathogenicity |
| | CAMTA1, LOC126805603 (R322W +3 more) | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +2 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 10 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | CEBALID syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated focal cortical dysplasia type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Neural tube defects, folate-sensitive +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Neural tube defects, folate-sensitive +2 more | |
| | | Single nucleotide variant (nonsense) | Neural tube defects, folate-sensitive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neural tube defects, folate-sensitive +2 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +21 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2A2 +4 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not specified +2 more | |
| | | Deletion (frameshift variant) | Kufor-Rakeb syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive spastic paraplegia type 78 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kufor-Rakeb syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +5 more | |
| | | Single nucleotide variant (missense variant) | Pheochromocytoma +5 more | |