NM_052867.4(NALCN):c.3448C>A (p.Leu1150Ile)Pathogenic
Congenital contractures of the limbs and face, hypotonia, and developmental delay|not provided
β
β
ββ2026β Residue 1150
NM_052867.4(NALCN):c.3448C>G (p.Leu1150Val)Pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2026β Residue 1150
NM_052867.4(NALCN):c.518G>C (p.Arg173Pro)Pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 173
NM_052867.4(NALCN):c.3970C>T (p.Leu1324Phe)Pathogenic
Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 1324
NM_052867.4(NALCN):c.3345A>C (p.Lys1115Asn)Likely pathogenic
Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 1115
NM_052867.4(NALCN):c.3058G>A (p.Val1020Ile)Pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 1020
NM_052867.4(NALCN):c.3983T>G (p.Val1328Gly)Likely pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 1328
NM_052867.4(NALCN):c.3553G>A (p.Ala1185Thr)Pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 1185
NM_052867.4(NALCN):c.1497A>G (p.Ile499Met)Likely pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 499
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)Pathogenic
Intellectual disability with episodic ataxia and congenital arthrogryposis|Congenital contractures of the limbs and face, hypotonia, and developmental delay|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 1181
NM_052867.4(NALCN):c.986G>C (p.Arg329Thr)Likely pathogenic
Inborn genetic diseases|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 329
NM_052867.4(NALCN):c.1550T>G (p.Leu517Trp)Likely pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 517
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)Pathogenic
Congenital contractures of the limbs and face, hypotonia, and developmental delay|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 322
NM_052867.4(NALCN):c.985A>G (p.Arg329Gly)Pathogenic
not provided|Congenital contractures of the limbs and face, hypotonia, and developmental delay
β
β
ββ2025β Residue 329
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)Pathogenic
not provided|Inborn genetic diseases|Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|NALCN-related disorder
β
β
ββ2025β Residue 855
NM_052867.4(NALCN):c.2524C>T (p.Arg842Ter)Pathogenic
not provided
β
β
ββ2025β Residue 842
NM_052867.4(NALCN):c.454C>T (p.Arg152Ter)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|Congenital contractures of the limbs and face, hypotonia, and developmental delay|Inborn genetic diseases
β
β
ββ2025β Residue 152
NM_052867.4(NALCN):c.1745A>G (p.Tyr582Cys)Pathogenic
not provided
β
β
ββ2024β Residue 582
NM_052867.4(NALCN):c.1245C>A (p.Tyr415Ter)Pathogenic
NALCN-related disorder|not provided
β
β
ββ2024β Residue 415
NM_052867.4(NALCN):c.3056dup (p.Leu1019fs)Pathogenic
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1|not provided|not specified
β
β
ββ2024β Residue 1019