Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940280
rs28940280
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.810 CausalMutation CLINVAR

dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs148862100
rs148862100
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		G 0.800 CausalMutation CLINVAR

dbSNP: rs386833975
rs386833975
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs386833976
rs386833976
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs386833977
rs386833977
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.800 GeneticVariation CLINVAR

dbSNP: rs386833978
rs386833978
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		C 0.800 GeneticVariation CLINVAR

dbSNP: rs386833981
rs386833981
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079

2002
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.700 CausalMutation CLINVAR Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). 10953198

2000
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516390
rs1057516390
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516814
rs1057516814
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057517134
rs1057517134
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 GeneticVariation CLINVAR The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland. 18684116

2008
dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555273567
rs1555273567
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555273604
rs1555273604
CLN5 ; FBXL3
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		GTGGATCCGGGC 0.700 CausalMutation CLINVAR

dbSNP: rs1555273609
rs1555273609
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555273881
rs1555273881
CLN5 ; FBXL3
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1555273882
rs1555273882
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555273992
rs1555273992
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555274005
rs1555274005
CLN5 ; FBXL3
CUI: C1850442
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5
CEROID LIPOFUSCINOSIS, NEURONAL, 5 		TTGATG 0.700 CausalMutation CLINVAR