Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
0.810 | GeneticVariation | BEFREE | In fact, we also identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated to CHM. | 21905166 | 2011 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | Missense mutation in the choroideremia gene. | 7951216 | 1994 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase. | 21905166 | 2011 | |||||||
|
|
|
0.810 | GeneticVariation | UNIPROT | The functional effect of pathogenic mutations in Rab escort protein 1. | 19427510 | 2009 | |||||||
|
|
|
C | 0.810 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.710 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.710 | GeneticVariation | BEFREE | Using Quantitative reverse transcription PCR (RT-qPCR), we show that CHM mRNA expression in blood from nonsense mutation CHM patients is 2.8-fold lower than controls, and varies widely amongst patients, with 40% variation between those carrying the same UGA mutation [c.715 C>T; p.(R239*)</span>]. | 30689859 | 2019 | |||||||
|
|
|
A | 0.710 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.710 | GeneticVariation | BEFREE | A nonsense mutation (c.C799T:p.R267X) of the CHM gene on the X chromosome of the proband (IV:7) and another 5 males with choroideremia were detected, while 3 female carriers with no symptoms were also identified. | 28098911 | 2017 | |||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | |||||||||
|
|
|
TC | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
TA | 0.700 | CausalMutation | CLINVAR | Aberrant splicing of the CHM gene is a significant cause of choroideremia. | 1302003 | 1992 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. | 16936131 | 2006 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. | 12827496 | 2003 | ||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | REP-1 gene mutations in Japanese patients with choroideremia. | 10447648 | 1999 |