|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
|
9452090 |
1998 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
|
9105656 |
1997 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
|
22773828 |
2012 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
|
16980809 |
2006 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: a new approach for the screening of females in high-risk groups.
|
24582695 |
2014 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.
|
23860966 |
2013 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
|
1315715 |
1992 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Lysosome-associated protein 1 (LAMP-1) and lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease.
|
24334114 |
2014 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
|
2539398 |
1989 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.
|
12786754 |
2003 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
rs104894827
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
|
7596372 |
1995 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
|
23537685 |
2013 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Screening for pharmacological chaperones in Fabry disease.
|
17532296 |
2007 |
|
rs104894827
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |