Gene: FBXL6 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124641
rs398124641
FBXL6 ; SLC52A2
A 0.800 CausalMutation CLINVAR Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 26669662

2016
dbSNP: rs398124641
rs398124641
FBXL6 ; SLC52A2
A 0.800 CausalMutation CLINVAR Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25133958

2014
dbSNP: rs398124641
rs398124641
FBXL6 ; SLC52A2
A 0.800 CausalMutation CLINVAR Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. 24616084

2014
dbSNP: rs398124641
rs398124641
FBXL6 ; SLC52A2
A 0.800 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs754320812
rs754320812
FBXL6 ; SLC52A2
C 0.800 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs797045199
rs797045199
FBXL6 ; SLC52A2
C 0.800 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs397514538
rs397514538
FBXL6 ; SLC52A2
C 0.800 CausalMutation CLINVAR Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. 22864630

2012
dbSNP: rs397514657
rs397514657
FBXL6 ; SLC52A2
T 0.800 CausalMutation CLINVAR Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. 22824638

2012
dbSNP: rs398124641
rs398124641
FBXL6 ; SLC52A2
A 0.800 CausalMutation CLINVAR Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. 22740598

2012
dbSNP: rs398123067
rs398123067
FBXL6 ; SLC52A2
A 0.700 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs398123068
rs398123068
FBXL6 ; SLC52A2
G 0.700 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs782305211
rs782305211
FBXL6 ; SLC52A2
C 0.700 GeneticVariation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs797045200
rs797045200
FBXL6 ; SLC52A2
T 0.700 CausalMutation CLINVAR Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. 24253200

2014
dbSNP: rs1554853682
rs1554853682
FBXL6 ; SLC52A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554854044
rs1554854044
FBXL6 ; SLC52A2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1564653965
rs1564653965
FBXL6 ; SLC52A2
A 0.700 CausalMutation CLINVAR

dbSNP: rs374071862
rs374071862
FBXL6 ; SLC52A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs375088539
rs375088539
FBXL6 ; SLC52A2
T 0.700 CausalMutation CLINVAR

dbSNP: rs782345472
rs782345472
FBXL6 ; SLC52A2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs782591841
rs782591841
FBXL6 ; SLC52A2
C 0.700 CausalMutation CLINVAR

dbSNP: rs797045201
rs797045201
FBXL6 ; SLC52A2
T 0.700 CausalMutation CLINVAR