Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203978
rs118203978
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		C 0.800 CausalMutation CLINVAR

dbSNP: rs140948465
rs140948465
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs140948465
rs140948465
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 CausalMutation CLINVAR

dbSNP: rs150418024
rs150418024
MFSD8
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT 		G 0.800 CausalMutation CLINVAR

dbSNP: rs267607235
rs267607235
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.800 CausalMutation CLINVAR

dbSNP: rs749704755
rs749704755
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.800 CausalMutation CLINVAR

dbSNP: rs118203975
rs118203975
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118203976
rs118203976
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR

dbSNP: rs118203977
rs118203977
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		C 0.700 CausalMutation CLINVAR

dbSNP: rs140948465
rs140948465
MFSD8
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1439582451
rs1439582451
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1460276679
rs1460276679
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1560747815
rs1560747815
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1560776422
rs1560776422
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		A 0.700 CausalMutation CLINVAR

dbSNP: rs200319160
rs200319160
MFSD8
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		T 0.700 CausalMutation CLINVAR

dbSNP: rs267607235
rs267607235
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7. 22668694

2012
dbSNP: rs267607235
rs267607235
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis. 20826447

2010
dbSNP: rs267607235
rs267607235
MFSD8
CUI: C0036572
Disease: Seizures
Seizures 		A 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging. 19277732

2009
dbSNP: rs556661896
rs556661896
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs587778809
rs587778809
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		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: rs587778809
rs587778809
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		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: rs587778809
rs587778809
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		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
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. 19177532

2009
dbSNP: rs587778809
rs587778809
MFSD8
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		T 0.700 CausalMutation CLINVAR The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. 17564970

2007
dbSNP: rs587778809
rs587778809
MFSD8
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR