| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.010 | GeneticVariation | BEFREE | We identified the novel c.1219T>C (p.Trp407Arg) and c.1361T>C (p.Met454Thr) MFSD8 pathogenic mutations. | 25333361 | 2014 |
||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | GeneticVariation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. | 19201763 | 2009 |
|||
|
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 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. | 19177532 | 2009 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter. | 17564970 | 2007 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. | 19177532 | 2009 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
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 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina. | 25976102 | 2015 |
|||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
TA | 0.700 | CausalMutation | CLINVAR |