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

2015
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 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: rs776927709
rs776927709
CHRNE ; C17orf107
AGTGAG 0.700 GeneticVariation CLINVAR Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. 9158150

1997
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: rs121908923
rs121908923
COLQ
0.010 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: rs121912819
rs121912819
CHAT
0.010 GeneticVariation BEFREE Arg-442 is mutated spontaneously (R442H) in congenital myasthenic syndrome, rendering ChAT inactive and causing neuromuscular failure. 15381704

2004
dbSNP: rs121912823
rs121912823
CHAT
0.010 GeneticVariation BEFREE We present a case of congenital myasthenic syndrome with I336T choline acetyltransferase mutation who presented with numerous attacks of respiratory distress in the infancy period. 19289695

2009
dbSNP: rs1259002559
rs1259002559
SLC5A7
0.010 GeneticVariation BEFREE We report the identification and functional characterization of a novel pathogenic variant in SLC5A7, c.788C>T (p.Ser263Phe) in an El Salvadorian family with a lethal form of a congenital myasthenic syndrome characterized by fetal akinesia. 31299140

2019
dbSNP: rs1386820869
rs1386820869
COLQ
0.010 GeneticVariation BEFREE Among the observed mutations, p.Thr284Pro (p.Thr264Pro according to the legacy annotation) in the epsilon subunit causes a slow-channel CMS. 25264167

2015
dbSNP: rs1416585953
rs1416585953
GFPT1
0.010 GeneticVariation BEFREE The most common CMS was primary acetylcholine receptor (AChR) deficiency (31/51) and the most common mutations in AChR were c.1219 + 2T > G (12/51) and c.1327delG (6/51) in CHRNE. 29395675

2018
dbSNP: rs1431506976
rs1431506976
CHAT
0.010 GeneticVariation BEFREE The most common CMS was primary acetylcholine receptor (AChR) deficiency (31/51) and the most common mutations in AChR were c.1219 + 2T > G (12/51) and c.1327delG (6/51) in CHRNE. 29395675

2018
dbSNP: rs375215281
rs375215281
COLQ
0.010 GeneticVariation BEFREE Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene. 15248101

2004
dbSNP: rs387906803
rs387906803
MUSK ; LOC107987115
0.010 GeneticVariation BEFREE These findings open perspectives for potential therapeutic intervention for patients with CMS harboring the P344R-MuSK mutation. 25562515

2015
dbSNP: rs775282060
rs775282060
CHAT
0.010 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: rs775587809
rs775587809
MUSK
0.010 GeneticVariation BEFREE We identified a novel missense mutation (p.Asp38Glu) heteroallelic to a genomic deletion affecting exons 2-3 of MUSK as cause of a limb-girdle CMS in two brothers of Turkish origin. 24183479

2014
dbSNP: rs781908532
rs781908532
SLC25A1
0.010 GeneticVariation BEFREE This suggests that p.(Arg247Gln) is associated with a relatively mild CMS phenotype with subtle mitochondrial abnormalities, while other variants in this gene cause more severe neurometabolic disease. 31527857

2020
dbSNP: rs863225046
rs863225046
SCN4A
0.010 GeneticVariation BEFREE Arg1457His offers molecular insight into a rare form of CMS precipitated by sodium channel inactivation defects. 25707578

2015
dbSNP: rs890972469
rs890972469
CHRND
0.010 GeneticVariation BEFREE In contrast, the corresponding amino acid substitution in the cytoplasmic loop of the AChR epsilon (CHRNE E376K) as well as a recently reported CMS mutation affecting this domain (CHRNE N436del) had no impact on cluster formation. 16916845

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