rs1057517686
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
|
27640307 |
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 |
rs755919784
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
rs765211108
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
|
25220016 |
2015 |
rs774909609
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
rs796051881
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.
|
26220973 |
2015 |
rs879253869
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
|
26257172 |
2015 |
rs587783070
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
|
25130867 |
2014 |
rs1556488264
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1559931177
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1563518388
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1565538350
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28928910
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28928910
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs377504835
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397507478
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs72653786
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs761665644
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs769405586
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs777219451
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs781939614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs781984979
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794728588
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs76992529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
On multivariate analysis, age at diagnosis (risk ratio, 15.65; p < 0.0001), Thr60Ala mutation (risk ratio, 1.52; p = 0.04), Val122Ile mutation (risk ratio, 2.83; p = 0.003), peripheral neuropathy (risk ratio, 1.69; p = 0.013) and weight loss (risk ratio, 1.81; p = 0.002) were risk factors for death.
|
26017327 |
2015 |
rs76992529
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p.Val122Ile.
|
22449240 |
2012 |