Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880

2014
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR In 4 hyperKPP patients from 2 families, molecular analyses revealed Arg675Gly and Arg675Gln mutations of SCN4A, which were previously reported to cause normoKPP. 22926674

2012
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109

2009
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis 		T 0.800 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR Mutations of SCN4A gene cause different diseases: 2 case reports and literature review. 25839108

2015
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis. 24682880

2014
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR Normokalemic periodic paralysis is not a distinct disease. 22926674

2012
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks. 19225109

2009
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis. 19052238

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C4025710
Disease: Diminished movement
Diminished movement 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
Normokalemic Periodic Paralysis, Potassium-Sensitive 		T 0.700 CausalMutation CLINVAR Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. 18046642

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0239234
Disease: Low set ears
Low set ears 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
Hypoplasia of mandibular condyle 		T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008