|
rs148636776
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs483352822
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs757075712
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121912713
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency.
|
1569192 |
1992 |
|
rs34377097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we identify a single amino acid substitution (Arg60-->Leu) in the first cytoplasmic loop of the TXA2 receptor in a dominantly inherited bleeding disorder characterized by defective platelet response to TXA2.
|
7929844 |
1994 |
|
rs1482856709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects.
|
9409277 |
1997 |
|
rs1801133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects.
|
9409277 |
1997 |
|
rs759304648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that, in addition to amyloid deposition, the G654A gelsolin gene defect causes altered gelsolin-mediated cellular mechanisms, which may contribute, e.g., to bleeding tendency in AGel amyloidosis patients.
|
10744159 |
2000 |
|
rs121909675
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with mutation L394R in gamma-glutamyl carboxylase have a severe bleeding disorder because of decreased biological activities of all vitamin K-dependent coagulation proteins.
|
10934213 |
2000 |
|
rs1339688889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The bleeding disorder of patient 1 was attributable to a homozygous Glu102Lys mutation in FXIIIA.
|
11826242 |
2002 |
|
rs104894809
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA.
|
15701726 |
2005 |
|
rs1252993409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA.
|
15701726 |
2005 |
|
rs780463965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we studied platelets from GATA1-deficient mice and from a male patient (S14) with a bleeding diathesis attributed to a single amino acid substitution (R216Q) in the N-terminal GATA1 zinc finger that alters binding to DNA.
|
15701726 |
2005 |
|
rs61750610
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The P1824H in the A3 domain is associated with very low VWF levels and with a moderate-to-severe bleeding tendency, unlike the other mutations reported in this domain.
|
16870550 |
2006 |
|
rs72547528
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An Italian patient with moderate to severe bleeding tendency was genotyped, and found to be homozygous for the unique VKORC1 mutation (Arg98Trp) so far detected in VKCFD2.
|
18315553 |
2008 |
|
rs121965064
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Factor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles.
|
18387979 |
2008 |
|
rs575627531
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
|
19723515 |
2009 |
|
rs387906691
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis.
|
19828703 |
2010 |
|
rs758865890
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A new factor XI mutation (Gln 47 Pro) has been found in combination with another known mutation (Leu 619 Pro) in a female patient with FXI deficiency and a moderate bleeding tendency.
|
24121361 |
2014 |
|
rs61749397
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data indicate that the vWD-type 2B mutation p.V1316M is associated with severe thrombocytopathy, which likely contributes to the bleeding tendency in vWD-type 2B.
|
24270421 |
2013 |
|
rs483352867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.
|
24591628 |
2014 |
|
rs557043245
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have identified a patient with a chronic bleeding disorder expressing a homozygous P2RY(12) mutation, predicting an arginine to cysteine (R122C) substitution in the G-protein-coupled P2Y(12) receptor.
|
24612435 |
2014 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, mice developing PV secondary to constitutive JAK2(V617F) expression exhibit a bleeding tendency combined with the accelerated formation of unstable clots, reminiscent of observations made in patients.
|
24951423 |
2014 |
|
rs886043118
|
|
A |
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 |
|
rs886043118
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature.
|
27117246 |
2018 |