| | | Microsatellite (inframe_deletion) | Congenital myasthenic syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 8 +1 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +5 more | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Robinow syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Harel-Yoon syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 21 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Idiopathic generalized epilepsy +1 more | |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder, complementation group 7 +4 more | |
| | | Deletion (frameshift variant +1 more) | Peroxisome biogenesis disorder 6A (Zellweger) +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Indel (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | CEP104, LOC126805586 (Q694fs) | Deletion (frameshift variant) | not provided | |
| | CEP104, LOC126805586 (R631*) | Single nucleotide variant (nonsense) | not provided | GPathogenic/Likely pathogenic |
| | CEP104, LOC126805587 (I607T) | Single nucleotide variant (missense variant) | not provided +3 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 | |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 25 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Nephronophthisis 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | | Deletion (5 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal recessive 4 +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cerebellar dysfunction with variable cognitive and behavioral abnormalities +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) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more | |
| | | Deletion (inframe_deletion) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +3 more | GConflicting classifications of pathogenicity |
| | LOC129388438, SLC2A5 (S172R +2 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 14 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 9 +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, kyphoscoliotic type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +19 more | |