|
rs746581714
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
|
27450922 |
2016 |
|
rs780594709
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.
|
27450922 |
2016 |
|
rs1561500885
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
rs121918130
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553621496
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1554699491
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1556620697
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1569548274
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs771237928
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs780631499
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121917834
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome.
|
26925580 |
2016 |
|
rs121917834
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The first, g.1286T > C (p.I73T), was de novo and resulted in progressive respiratory failure with intra-alveolar storage of a granular, protein- and lipid-rich, periodic acid Schiff (PAS)-positive material (pulmonary alveolar proteinosis (PAP)), and interstitial lung disease.
|
15039969 |
2004 |
|
rs372318863
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recently, two variants in the novel PCH1 associated protein EXOSC9 p.(Leu14Pro) and p.(Arg161*) have been identified in 4 unrelated patients exhibiting a severe phenotype involving cerebellar hypoplasia, axonal motor neuropathy, hypotonia, feeding difficulties, and respiratory insufficiency (PCH1D).
|
30690203 |
2020 |
|
rs1927907
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In Thai patients with staphylococcal sepsis, rs1927907 was associated with higher interleukin (IL)-6 and IL-8 levels as well as with respiratory failure.
|
27615723 |
2017 |
|
rs181657861
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a female child with novel compound heterozygous mutations in IGHMBP2 gene c.344C>T (p.115T>M) and c.1737C>A (p.579F>L), displaying distal limbs weakness and atrophy without signs of diaphragmatic palsy or respiratory insufficiency.
|
26922252 |
2016 |
|
rs368775789
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We present a female child with novel compound heterozygous mutations in IGHMBP2 gene c.344C>T (p.115T>M) and c.1737C>A (p.579F>L), displaying distal limbs weakness and atrophy without signs of diaphragmatic palsy or respiratory insufficiency.
|
26922252 |
2016 |
|
rs150516929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, we described for the first time respiratory insufficiency occurring in a patient with the p.Gly154Ser mutation in CRYAB.
|
25208129 |
2014 |
|
rs57983345
|
|
|
0.010 |
GeneticVariation |
BEFREE |
All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support.
|
24508248 |
2014 |
|
rs72466485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
|
20437543 |
2010 |
|
rs770153273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
|
20437543 |
2010 |
|
rs80356733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment.
|
18779421 |
2008 |
|
rs80356734
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 2 missense mutations (G348C and the novel N352S) in TARDBP in 2 small kindreds with a hereditary form of ALS with early spinal onset resulting in fatal respiratory insufficiency without clinical relevant bulbar symptoms or signs of cognitive impairment.
|
18779421 |
2008 |
|
rs121917836
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a full-term infant with respiratory insufficiency associated with a spontaneous heterozygous mutation resulting in a substitution of lysine for glutamic acid at position 66 (= E66K) of the proximal hSP-C COOH flanking propeptide.
|
15557112 |
2005 |
|
rs75961395
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two of the G85E patients died of respiratory failure aged 6 and 14 years.
|
8933333 |
1996 |