| | | Single nucleotide variant (splice acceptor variant) | See cases +8 more | |
| | | Deletion (inframe_deletion) | Macrocephaly +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | tegafur response - Toxicity +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Cryptorchidism +20 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +3 more | |
| | LOC102724058, SCN1A (V1601I +5 more) | Single nucleotide variant (missense variant +1 more) | Severe myoclonic epilepsy in infancy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Congenital laryngomalacia +19 more | |
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary sensory, type 2C +22 more | |
| | | Single nucleotide variant (missense variant +2 more) | Muir-Torré syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant hypocalcemia 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brachycephaly +4 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +20 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polyphagia +12 more | |
| | | Single nucleotide variant (missense variant) | Congenital ptosis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Dysphagia +12 more | |
| | | Indel (missense variant +1 more) | Generalized hypotonia +6 more | |
| | ARFGEF1, CSPP1 (E1094G +7 more) | Single nucleotide variant (missense variant) | CSPP1-related disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 8 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autism +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypoplasia of the corpus callosum +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypoplasia of the corpus callosum +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Abnormal corpus callosum morphology +11 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-III-D +22 more | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, childhood absence, susceptibility to, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Severe global developmental delay +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | See cases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +11 more | |
| | | Single nucleotide variant (missense variant +1 more) | Low-set ears +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | See cases +5 more | |
| | | Single nucleotide variant (missense variant) | Stereotypic movement disorder +22 more | |
| | | Deletion (intron variant) | Autism +14 more | |
| | | Duplication (inframe_insertion) | Intellectual disability, X-linked, with panhypopituitarism +28 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Mucopolysaccharidosis, MPS-II +6 more | |