| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Single nucleotide variant (nonsense) | NALCN-related disorders +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Deletion (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Deletion (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |
| | | Duplication (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more | |
| | | Deletion (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | |