| | | Single nucleotide variant (missense variant) | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | |
| | | Single nucleotide variant (splice donor variant) | Abnormality of the nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | LRRIQ3-related disorder | |
| | | Single nucleotide variant (missense variant) | Muscle AMP deaminase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia, type 2F | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of glycosylation, type iit | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | |
| | | Single nucleotide variant (missense variant) | EIF2AK2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Achromatopsia 2 | |
| | | Single nucleotide variant (missense variant) | Achromatopsia 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Filippi syndrome | |
| | | Deletion (frameshift variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense +1 more) | not provided +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Intellectual disability, autosomal recessive 42 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cholestanol storage disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (splice donor variant) | Intellectual disability, autosomal recessive 2 | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | |
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 1 | |
| | LOC129992876, SLC39A8 (G38R) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | |
| | | Deletion (inframe_deletion) | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 46 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 46 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal recessive 46 | |
| | THG1L, LOC129995144 (T46N) | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | | Deletion (splice acceptor variant +1 more) | Congenital heart defects, multiple types, 7 | |
| | | Single nucleotide variant (nonsense) | Congenital heart defects, multiple types, 7 | |
| | | Duplication (frameshift variant) | Congenital heart defects, multiple types, 7 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | See cases +2 more | GPathogenic/Likely pathogenic |
| | DNAH8, DNAH8-AS1 (F3591L +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Spastic paraplegia-severe developmental delay-epilepsy syndrome | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Joubert syndrome 3 +1 more | |
| | | Duplication (frameshift variant) | Joubert syndrome and related disorders +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | AP4M1-related disorder +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 73 +2 more | |
| | | Deletion (frameshift variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Cohen syndrome +1 more | |
| | | Duplication (5 prime UTR variant) | Intellectual disability, autosomal recessive 13 +2 more | |
| | | Copy number gain | not provided | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline | |
| | | Deletion (frameshift variant) | Developmental and epileptic encephalopathy, 37 | |
| | | Single nucleotide variant (missense variant) | NR5A1-related disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | PTEN hamartoma tumor syndrome | |
| | | Single nucleotide variant (missense variant +3 more) | Hyperphosphatasia with intellectual disability syndrome 3 | |
| | | Indel (inframe_indel) | Fatty acyl-CoA reductase 1 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Intellectual disability, autosomal recessive 66 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | PAN2-related disorder | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Phenylketonuria | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (missense variant) | Oculocerebrofacial syndrome, Kaufman type | |
| | | Single nucleotide variant (nonsense) | Hereditary spastic paraplegia 55 | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Noonan syndrome 9 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | L-2-hydroxyglutaric aciduria | |
| | | Single nucleotide variant (splice acceptor variant) | Joubert syndrome 23 +1 more | |
| | | Deletion (inframe_deletion +1 more) | Intellectual disability, autosomal recessive 27 | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Meier-Gorlin syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bilateral frontoparietal polymicrogyria | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CDH1-related diffuse gastric and lobular breast cancer syndrome | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant +1 more) | Glutaric aciduria, type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 3 | |
| | | Single nucleotide variant (nonsense) | Dystonia 28, childhood-onset | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype | |
| | | Deletion (frameshift variant) | Intellectual disability, autosomal recessive 57 | |
| | LOC126862983, MGME1 (S19del) | Deletion (inframe_deletion) | Mitochondrial DNA depletion syndrome 11 +1 more | |
| | | Single nucleotide variant (nonsense +2 more) | Developmental and epileptic encephalopathy-107 | |
| | | Deletion (frameshift variant) | DYRK1A-related intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Homocystinuria +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Neurodegeneration with brain iron accumulation 2B +3 more | |
| | | Deletion (frameshift variant +1 more) | Neurodegeneration with brain iron accumulation 2B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | |