rs121918552
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs879255268
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We now report a 5-year-old girl with syndromic thrombocytopenia due to the same SRC-E527K variant that occurs <i>de novo</i>.
|
31204551 |
2019 |
rs724159947
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV.
|
25807284 |
2015 |
rs724159947
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
rs786205155
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL.
|
26102509 |
2015 |
rs121918552
|
|
|
0.710 |
GeneticVariation |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
rs786205155
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs879255268
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
rs1559810905
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1.
|
30965144 |
2020 |
rs104894816
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs121908064
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs121909752
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs132630273
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs146249964
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs1569008655
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs28928907
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs5030764
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs587778516
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs766503255
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs794727505
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
rs863223318
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
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 |
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 |
rs724159945
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |
rs724159946
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.
|
25581430 |
2015 |