NALCN, sodium leak channel, non-selective, 259232

N. diseases: 143; N. variants: 37
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. 28133733 2017
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. 28133733 2017
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739 2016
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. 27558372 2016
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis. 27633718 2016
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. 27214504 2016
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Muscle biopsy findings in a child with NALCN gene mutation. 27473021 2016
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. 27214504 2016
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Muscle biopsy findings in a child with NALCN gene mutation. 27473021 2016
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739 2016
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. 27558372 2016
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis. 27633718 2016
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 25683120 2015
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. 25683120 2015
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 24075186 2013
dbSNP: rs1158141270
rs1158141270
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 23749988 2013
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. 24075186 2013
dbSNP: rs1555373511
rs1555373511
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. 23749988 2013