|
rs1006898944
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.
|
28386937 |
2018 |
|
rs1006898944
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.
|
21834044 |
2011 |
|
rs1006898944
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
|
20890279 |
2010 |
|
rs1006898944
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
|
20890278 |
2010 |
|
rs1006898944
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.
|
20729831 |
2010 |
|
rs104894229
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
rs104894229
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
|
21850009 |
2011 |
|
rs104894229
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
|
19382114 |
2009 |
|
rs104894229
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs104894229
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular and clinical features of inherited neuropathies due to PMP22 duplication.
|
26076881 |
2015 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.
|
24726093 |
2014 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.
|
24534835 |
2014 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
|
24668782 |
2014 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
|
24646194 |
2014 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation.
|
23781966 |
2013 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The PMP22 gene and its related diseases.
|
23224996 |
2013 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
|
21840889 |
2011 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome.
|
18592125 |
2008 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
|
18698610 |
2008 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
|
11835375 |
2002 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
|
12439896 |
2002 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy.
|
11523566 |
2001 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
|
10369870 |
1999 |
|
rs104894621
|
|
Muscle hypotonia
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
10211478 |
1999 |