Gene: SGCG ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 CausalMutation CLINVAR C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. 20345928

2010
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 CausalMutation CLINVAR Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. 14981741

2004
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 CausalMutation CLINVAR The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). 9781048

1998
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 CausalMutation CLINVAR To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. 9658457

1998
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
A 0.830 GeneticVariation CLINVAR

dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs200502077
rs200502077
SGCG
C 0.700 GeneticVariation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 GeneticVariation CLINVAR A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. 25802879

2015
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 CausalMutation CLINVAR A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. 25802879

2015
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle. 25605665

2015
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 CausalMutation CLINVAR Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C. 24534832

2014
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 GeneticVariation CLINVAR Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C. 24534832

2014
dbSNP: rs780348174
rs780348174
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. 24638197

2014
dbSNP: rs786204786
rs786204786
SGCG
C 0.700 CausalMutation CLINVAR Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. 24552312

2014
dbSNP: rs786204786
rs786204786
SGCG
C 0.700 CausalMutation CLINVAR Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression. 23929688

2014
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 CausalMutation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
A 0.700 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs1555248289
rs1555248289
SGCG ; LOC107984585
G 0.700 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs786204786
rs786204786
SGCG
C 0.700 CausalMutation CLINVAR A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. 22240777

2012
dbSNP: rs886042749
rs886042749
SGCG ; LOC107984585
A 0.700 GeneticVariation CLINVAR Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. 22095924

2012
dbSNP: rs786204786
rs786204786
SGCG
C 0.700 CausalMutation CLINVAR Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. 20623375

2010
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
C 0.700 GeneticVariation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540

2009
dbSNP: rs797045106
rs797045106
SGCG
C 0.700 CausalMutation CLINVAR Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. 19770540

2009