Gene: PIK3R1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515453
rs397515453
PIK3R1
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
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 27766312

2016
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 26974159

2016
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
dbSNP: rs397515453
rs397515453
PIK3R1
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
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs397515453
rs397515453
PIK3R1
T 0.820 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
dbSNP: rs397515453
rs397515453
PIK3R1
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
dbSNP: rs397514047
rs397514047
PIK3R1
A 0.800 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs587777709
rs587777709
PIK3R1
C 0.700 CausalMutation CLINVAR De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 26529633

2016
dbSNP: rs797045063
rs797045063
PIK3R1
C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1561299903
rs1561299903
PIK3R1
CT 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 24886349

2014
dbSNP: rs587777709
rs587777709
PIK3R1
A 0.700 CausalMutation CLINVAR A human immunodeficiency caused by mutations in the PIK3R1 gene. 25133428

2014
dbSNP: rs587777709
rs587777709
PIK3R1
C 0.700 CausalMutation CLINVAR Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 25488983

2014
dbSNP: rs587777709
rs587777709
PIK3R1
C 0.700 CausalMutation CLINVAR A human immunodeficiency caused by mutations in the PIK3R1 gene. 25133428

2014
dbSNP: rs1561299903
rs1561299903
PIK3R1
CT 0.700 CausalMutation CLINVAR PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 23810378

2013
dbSNP: rs1561299903
rs1561299903
PIK3R1
CT 0.700 CausalMutation CLINVAR Mutations in PIK3R1 cause SHORT syndrome. 23810382

2013
dbSNP: rs587777709
rs587777709
PIK3R1
A 0.700 CausalMutation CLINVAR Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 22351933

2012
dbSNP: rs1057519838
rs1057519838
PIK3R1
T 0.700 CausalMutation CLINVAR

dbSNP: rs398122384
rs398122384
PIK3R1
GT 0.700 CausalMutation CLINVAR

dbSNP: rs398122385
rs398122385
PIK3R1
AC 0.700 CausalMutation CLINVAR

dbSNP: rs515726149
rs515726149
PIK3R1
A 0.700 CausalMutation CLINVAR

dbSNP: rs515726150
rs515726150
PIK3R1
G 0.700 CausalMutation CLINVAR

dbSNP: rs515726151
rs515726151
PIK3R1
G 0.700 CausalMutation CLINVAR