Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894299
rs104894299
RAPSN
0.750 GeneticVariation BEFREE Remarkably, several founder mutations made a large contribution to CMS in Spain: RAPSN c.264C > A (p.Asn88Lys), CHRNE c.130insG (Glu44Glyfs*3), CHRNE c.1353insG (p.Asn542Gluf*4), DOK7 c.1124_1127dup (p.Ala378Serfs*30), and particularly frequent in Spain in comparison with other populations, COLQ c.1289A > C (p.Tyr430Ser). 29054425

2017
dbSNP: rs104894299
rs104894299
RAPSN
0.750 GeneticVariation BEFREE However, absence of a N88K allele does not exclude underlying RAPSN mutations as cause of the congenital myasthenic syndromes. 16931511

2006
dbSNP: rs104894299
rs104894299
RAPSN
T 0.750 CausalMutation CLINVAR Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders. 14729848

2004
dbSNP: rs104894299
rs104894299
RAPSN
0.750 GeneticVariation BEFREE Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation. 14659409

2004
dbSNP: rs104894299
rs104894299
RAPSN
T 0.750 CausalMutation CLINVAR A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome. 15482960

2004
dbSNP: rs104894299
rs104894299
RAPSN
0.750 GeneticVariation BEFREE Direct sequencing of RAPSN in two children with congenital myasthenic syndromes with no mutation in any of the AChR subunits identified two heterozygous recessive mutations in each: a previously characterized N88K mutation in both, and a second frameshifting mutation in Patient (Pt) 1 and a nonsense mutation in Pt 2. 15036330

2004
dbSNP: rs104894299
rs104894299
RAPSN
0.750 GeneticVariation BEFREE The RAPSN mutation N88K is a frequent cause of rapsyn-related CMS in European patients. 12796535

2003
dbSNP: rs104894299
rs104894299
RAPSN
T 0.750 CausalMutation CLINVAR Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes. 12807980

2003
dbSNP: rs104894299
rs104894299
RAPSN
T 0.750 CausalMutation CLINVAR E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. 12651869

2003
dbSNP: rs762368691
rs762368691
CHRNE ; C17orf107
TC 0.700 CausalMutation CLINVAR A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome. 29383513

2018
dbSNP: rs762368691
rs762368691
CHRNE ; C17orf107
TC 0.700 CausalMutation CLINVAR Molecular characterization of congenital myasthenic syndromes in Spain. 29054425

2017
dbSNP: rs776927709
rs776927709
CHRNE ; C17orf107
AGTGAG 0.700 GeneticVariation CLINVAR A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. 27717316

2016
dbSNP: rs879253789
rs879253789
SCN4A
A 0.700 CausalMutation CLINVAR A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. 26659129

2016
dbSNP: rs201479289
rs201479289
CHAT
A 0.700 GeneticVariation CLINVAR Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. 26080897

2015
dbSNP: rs756623659
rs756623659
AGRN
A 0.700 CausalMutation CLINVAR Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. 24951643

2014
dbSNP: rs769982050
rs769982050
COLQ
A 0.700 CausalMutation CLINVAR COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina. 24281389

2014
dbSNP: rs879253787
rs879253787
AGRN
T 0.700 CausalMutation CLINVAR Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. 24951643

2014
dbSNP: rs587777298
rs587777298
AGRN
T 0.700 CausalMutation CLINVAR LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. 22205389

2012
dbSNP: rs606231128
rs606231128
DOK7
AGCCT 0.700 CausalMutation CLINVAR 186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands. 22230109

2012
dbSNP: rs769982050
rs769982050
COLQ
A 0.700 CausalMutation CLINVAR Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients. 22678886

2012
dbSNP: rs201479289
rs201479289
CHAT
A 0.700 GeneticVariation CLINVAR Functional consequences and structural interpretation of mutations of human choline acetyltransferase. 21786365

2011
dbSNP: rs776927709
rs776927709
CHRNE ; C17orf107
AGTGAG 0.700 GeneticVariation CLINVAR Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. 21150643

2011
dbSNP: rs762368691
rs762368691
CHRNE ; C17orf107
TC 0.700 CausalMutation CLINVAR Molecular characterisation of congenital myasthenic syndromes in Southern Brazil. 20562457

2010
dbSNP: rs199476396
rs199476396
AGRN
C 0.700 CausalMutation CLINVAR Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. 19631309

2009
dbSNP: rs606231128
rs606231128
DOK7
AGCCT 0.700 CausalMutation CLINVAR Germline mutation in DOK7 associated with fetal akinesia deformation sequence. 19261599

2009