rs1057519757
|
|
Uterine Carcinosarcoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
|
23810378 |
2013 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
|
27766312 |
2016 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation.
|
28632845 |
2017 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Mutations in PIK3R1 cause SHORT syndrome.
|
23810382 |
2013 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
|
24886349 |
2014 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
|
26974159 |
2016 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene.
|
23980586 |
2014 |
rs397515453
|
|
SHORT syndrome
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Using whole-exome sequencing, we identified a heterozygous PIK3R1 mutation (c.1945C>T [p.Arg649Trp]) in two unrelated families affected by partial lipodystrophy, low body mass index, short stature, progeroid face, and Rieger anomaly (SHORT syndrome).
|
23810379 |
2013 |
rs397514047
|
|
SHORT syndrome
|
A |
0.800 |
CausalMutation
|
CLINVAR |
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
|
23810378 |
2013 |
rs797045063
|
|
SHORT syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
rs587784325
|
|
SHORT syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs587777709
|
|
SHORT syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs587777709
|
|
SHORT syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.
|
26529633 |
2016 |
rs587777709
|
|
SHORT syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A human immunodeficiency caused by mutations in the PIK3R1 gene.
|
25133428 |
2014 |
rs587777709
|
|
SHORT syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
|
25488983 |
2014 |
rs587777709
|
|
SHORT syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.
|
22351933 |
2012 |
rs587777709
|
|
SHORT syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
A human immunodeficiency caused by mutations in the PIK3R1 gene.
|
25133428 |
2014 |
rs515726151
|
|
SHORT syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs515726150
|
|
SHORT syndrome
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs515726149
|
|
SHORT syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs398122385
|
|
SHORT syndrome
|
AC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs398122384
|
|
SHORT syndrome
|
GT |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1561299903
|
|
SHORT syndrome
|
CT |
0.700 |
CausalMutation
|
CLINVAR |
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
|
23810378 |
2013 |