Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 28708303

2018
dbSNP: rs587778809
rs587778809
MFSD8
T 0.700 CausalMutation CLINVAR Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs. 25439737

2015
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. 25976102

2015
dbSNP: rs1043984708
rs1043984708
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: rs1043984708
rs1043984708
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 Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
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: rs587778809
rs587778809
MFSD8
T 0.700 CausalMutation CLINVAR 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 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: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs1043984708
rs1043984708
MFSD8
0.700 GeneticVariation UNIPROT Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009
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: 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 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 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: rs587778809
rs587778809
MFSD8
T 0.700 CausalMutation CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009
dbSNP: rs587778809
rs587778809
MFSD8
T 0.700 CausalMutation CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs724159971
rs724159971
MFSD8
A 0.700 CausalMutation CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs751696703
rs751696703
MFSD8
A 0.700 GeneticVariation CLINVAR 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