| | | Single nucleotide variant (splice donor variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Deletion (frameshift variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | NALCN, NALCN-AS1 (R1693G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more | |
| | NALCN, NALCN-AS1 (G1684D +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (intron variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +3 more | |
| | NALCN, NALCN-AS1 (R1625Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (intron variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Deletion (frameshift variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | NALCN-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | NALCN-related disorder +1 more | |
| | | Duplication (frameshift variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +1 more | |
| | NALCN, NALCN-AS1 (D1737H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | NALCN-AS1, NALCN (E1730K +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | |
| | | Single nucleotide variant (splice donor variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (synonymous variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |
| | | Single nucleotide variant (missense variant) | Congenital contractures of the limbs and face, hypotonia, and developmental delay | |