Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs190057175
rs190057175
TSPAN1 ; POMGNT1
A 0.700 CausalMutation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332

2017
dbSNP: rs386834024
rs386834024
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332

2017
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene. 24282183

2014
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
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
T 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 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 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386

2013
dbSNP: rs267606962
rs267606962
TSPAN1 ; POMGNT1
G 0.700 GeneticVariation CLINVAR Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. 23689641

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 GeneticVariation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs267606960
rs267606960
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs28940869
rs28940869
TSPAN1 ; POMGNT1
A 0.700 GeneticVariation CLINVAR Novel retinal findings in an infant with muscle-eye-brain disease. 25390965

2012
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: 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 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 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 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs386834019
rs386834019
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease. 21361872

2011
dbSNP: rs138642840
rs138642840
TSPAN1 ; POMGNT1
T 0.700 CausalMutation CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
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 An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. 19679478

2009
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 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676

2008