rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
25227148
2015
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
23765048
2013
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
22797890
2012
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.860
GeneticVariation
UNIPROT
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
21540884
2011
rs121434622
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
A
0.860
CausalMutation
CLINVAR
rs193922936
FMR1;FMR1-AS1
Fragile X Syndrome
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
0.700
CausalMutation
CLINVAR
The fragile X syndromes.
7620122
1995
rs193922936
FMR1;FMR1-AS1
Fragile X Syndrome
CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG
0.700
CausalMutation
CLINVAR
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
1710175
1991
rs1057518850
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
G
0.700
GeneticVariation
CLINVAR
rs1057518850
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Autistic behavior
G
0.700
GeneticVariation
CLINVAR
rs1557176576
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
TA
0.700
CausalMutation
CLINVAR
rs1569545382
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
A
0.700
CausalMutation
CLINVAR
rs1569545562
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
T
0.700
CausalMutation
CLINVAR
rs200163413
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Fragile X Syndrome
0.700
GeneticVariation
UNIPROT
rs886041088
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
G
0.700
CausalMutation
CLINVAR
rs886041089
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
Poor school performance
A
0.700
CausalMutation
CLINVAR