| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Deletion (inframe_deletion) | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Krakow type | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder, autosomal recessive 68 | |
| | | Single nucleotide variant (nonsense) | Radio-Tartaglia syndrome | |
| | | Deletion (frameshift variant) | Intellectual disability without epilepsy | |
| | | Deletion (frameshift variant) | Cockayne syndrome type 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of connective tissue | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | COL18A1, SLC19A1 (S1028* +2 more) | Single nucleotide variant (nonsense) | Knobloch syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability without epilepsy | |
| | | Single nucleotide variant (splice donor variant) | Oocyte maturation defect 6 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 45 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset ascending hereditary spastic paralysis | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive DOPA responsive dystonia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | CSNK2A1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 6 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | |
| | | Single nucleotide variant (missense variant) | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn mitochondrial myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | CHEK2-related cancer predisposition +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |