Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119462982
rs119462982
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		C 0.800 CausalMutation CLINVAR

dbSNP: rs119462983
rs119462983
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs119462984
rs119462984
POMT1 ; LOC105376301
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs119462986
rs119462986
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		C 0.800 CausalMutation CLINVAR

dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 GeneticVariation CLINVAR Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 22549409

2012
dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 GeneticVariation CLINVAR POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 20816175

2010
dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 GeneticVariation CLINVAR Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 17869517

2008
dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 GeneticVariation CLINVAR Expanding the clinical spectrum of POMT1 phenotype. 16717220

2006
dbSNP: rs119462987
rs119462987
POMT1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs28941782
rs28941782
POMT1
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		A 0.800 CausalMutation CLINVAR

dbSNP: rs149682171
rs149682171
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		T 0.710 GeneticVariation CLINVAR Compound heterozygous mutations in POMT1 were identified including a previously reported nonsense mutation (c.2167dupG; p.Asp723Glyfs*8) associated with Walker-Warburg syndrome and a novel missense mutation in a highly conserved region of the protein O-mannosyltransferase 1 protein (c.1958C>T; p.Pro653Leu). 24491487

2014
dbSNP: rs119462981
rs119462981
POMT1
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119462985
rs119462985
POMT1 ; LOC105376301
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119462987
rs119462987
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		A 0.700 GeneticVariation CLINVAR Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 22549409

2012
dbSNP: rs119462987
rs119462987
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 22549409

2012
dbSNP: rs119462987
rs119462987
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 20816175

2010
dbSNP: rs119462987
rs119462987
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		A 0.700 GeneticVariation CLINVAR POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 20816175

2010
dbSNP: rs119462987
rs119462987
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 17869517

2008
dbSNP: rs119462987
rs119462987
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		A 0.700 GeneticVariation CLINVAR Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 17869517

2008
dbSNP: rs119462987
rs119462987
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
dbSNP: rs119462987
rs119462987
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		A 0.700 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
dbSNP: rs119462987
rs119462987
POMT1
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		A 0.700 GeneticVariation CLINVAR Expanding the clinical spectrum of POMT1 phenotype. 16717220

2006
dbSNP: rs119462987
rs119462987
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR Expanding the clinical spectrum of POMT1 phenotype. 16717220

2006
dbSNP: rs1250351189
rs1250351189
POMT1
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		A 0.700 GeneticVariation CLINVAR