rs113993993
|
|
Short stature
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
Tooth absent
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
Sunken eyes
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
Aplastic Anemia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
Microcephaly (physical finding)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs113993993
|
|
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
|
G |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
Splenomegaly
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.
|
22934832 |
2012 |
rs113993993
|
|
Shwachman syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
|
21695142 |
2011 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
|
21695142 |
2011 |
rs113993993
|
|
Shwachman syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
rs113993993
|
|
Shwachman syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
|
14749921 |
2004 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
|
14749921 |
2004 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Shwachman-Diamond syndrome: diarrhea, no longer required?
|
22935661 |
2013 |
rs113993993
|
|
Shwachman syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Shwachman-Diamond syndrome: diarrhea, no longer required?
|
22935661 |
2013 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome.
|
19148133 |
2009 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
|
15860664 |
2005 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
|
24388329 |
2014 |
rs113993993
|
|
SHWACHMAN-DIAMOND SYNDROME 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
|
24629175 |
2014 |