Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007
dbSNP: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009
dbSNP: rs1162750836
rs1162750836
MFSD8
0.700 GeneticVariation UNIPROT

dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009
dbSNP: rs1275962600
rs1275962600
MFSD8
0.700 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. 18850119

2009
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs764549054
rs764549054
MFSD8
0.700 GeneticVariation UNIPROT The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007
dbSNP: rs779838200
rs779838200
MFSD8
0.700 GeneticVariation UNIPROT

dbSNP: rs559155109
rs559155109
MFSD8
0.010 GeneticVariation BEFREE We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. 25333361

2014
dbSNP: rs267607235
rs267607235
MFSD8
A 0.800 CausalMutation CLINVAR

dbSNP: rs1439582451
rs1439582451
MFSD8
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560776422
rs1560776422
MFSD8
A 0.700 CausalMutation CLINVAR

dbSNP: rs724159970
rs724159970
MFSD8
A 0.700 CausalMutation CLINVAR