rs587777623
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation.
|
26834045 |
2016 |
rs587777623
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs587777893
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
|
27159400 |
2016 |
rs672601368
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
rs767961672
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs775835429
|
|
ATC |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs777593389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs78300695
|
|
TG |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs137854544
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
rs587777623
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
rs875989777
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
rs1561498701
|
|
AGGATTCCG |
0.700 |
CausalMutation |
CLINVAR |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
|
24498607 |
2013 |
rs121434578
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
rs724159991
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
rs724159992
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
rs1561500885
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
rs137854544
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
rs875989777
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
rs137854544
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
rs875989777
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
rs1010184002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518345
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518786
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518794
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518845
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|