Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777383
rs587777383
ACTG2
A 0.700 CausalMutation CLINVAR Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 26813947

2016
dbSNP: rs587777387
rs587777387
ACTG2
T 0.700 CausalMutation CLINVAR Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 26813947

2016
dbSNP: rs797044959
rs797044959
ACTG2
A 0.700 CausalMutation CLINVAR Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 26813947

2016
dbSNP: rs869312168
rs869312168
ACTG2
A 0.700 CausalMutation CLINVAR Variants of the ACTG2 gene correlate with degree of severity and presence of megacystis in chronic intestinal pseudo-obstruction. 26813947

2016
dbSNP: rs587777383
rs587777383
ACTG2
A 0.700 CausalMutation CLINVAR New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 25998219

2015
dbSNP: rs587777387
rs587777387
ACTG2
T 0.700 CausalMutation CLINVAR New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 25998219

2015
dbSNP: rs797044959
rs797044959
ACTG2
A 0.700 CausalMutation CLINVAR New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome). 25998219

2015
dbSNP: rs587777383
rs587777383
ACTG2
A 0.700 CausalMutation CLINVAR De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657

2014
dbSNP: rs587777383
rs587777383
ACTG2
A 0.700 CausalMutation CLINVAR Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022

2014
dbSNP: rs587777387
rs587777387
ACTG2
T 0.700 CausalMutation CLINVAR Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022

2014
dbSNP: rs587777387
rs587777387
ACTG2
T 0.700 CausalMutation CLINVAR De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657

2014
dbSNP: rs797044959
rs797044959
ACTG2
A 0.700 CausalMutation CLINVAR Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. 24676022

2014
dbSNP: rs797044959
rs797044959
ACTG2
A 0.700 CausalMutation CLINVAR De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. 24337657

2014
dbSNP: rs1557178535
rs1557178535
FLNA
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777386
rs587777386
ACTG2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1219107667
rs1219107667
CLMP
0.010 GeneticVariation BEFREE We describe a newborn presenting CSBS intestinal malrotation and chronic intestinal pseudo-obstruction syndrome (CIPS), compound heterozygous for two previously unreported heterozygous mutations in Coxsackie and adenovirus receptor-like membrane protein (CLMP) gene, one in intron 1 (c.28+1G>C), the other on exon 4 (c502C>T, p.R168X). 27720179

2016
dbSNP: rs199529397
rs199529397
RET
0.010 GeneticVariation BEFREE Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.© 2016 Wiley Periodicals, Inc. 27273837

2016
dbSNP: rs76397662
rs76397662
RET
0.010 GeneticVariation BEFREE Somehow, this RET R114H mutation proved to have a role in the etiology of both CIPO and HSCR and could contribute to a more diffuse imbalance of gut dysmotility.© 2016 Wiley Periodicals, Inc. 27273837

2016
dbSNP: rs6755901
rs6755901
LHCGR ; GTF2A1L ; STON1-GTF2A1L
0.010 GeneticVariation BEFREE The minor allele G, at the single nucleotide polymorphism rs6755901, was detected in homozygosity in two patients (28.5%) who had developed chronic intestinal pseudo-obstruction and in 5.5% of the IVF controls. 25592315

2015