Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74374973
rs74374973
TSPAN1 ; POMGNT1
0.700 GeneticVariation UNIPROT Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. 18195152

2008
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676

2008
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332

2017
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676

2008
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease. 17906881

2007
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR POMGnT1 gene alterations in a family with neurological abnormalities. 15236414

2004
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965

2012
dbSNP: rs386834018
rs386834018
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691

2012
dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691

2012
dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. 15466003

2004
dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332

2017
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691

2012
dbSNP: rs386834039
rs386834039
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 17030669

2006
dbSNP: rs386834039
rs386834039
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. 22554691

2012
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR Clinical, radiological, and genetic survey of patients with muscle-eye-brain disease caused by mutations in POMGNT1. 24731844

2014