Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853176
rs878853176
ITPR1
0.800 GeneticVariation UNIPROT A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. 27108798

2016
dbSNP: rs878853176
rs878853176
ITPR1
0.800 GeneticVariation UNIPROT Using a combination of trio-based whole-exome sequencing and Sanger sequencing in five simplex GS-affected families, we found homozygous or compound heterozygous truncating mutations (c.4672C>T [p.Gln1558(∗)], c.2182C>T [p.Arg728(∗)], c.6366+3A>T [p.Gly2102Valfs5(∗)], and c.6664+5G>T [p.Ala2221Valfs23(∗)]) and de novo heterozygous mutations (c.7687_7689del [p.Lys2563del] and c.7659T>G [p.Phe2553Leu]) in the inositol 1,4,5-trisphosphate receptor type 1 gene (ITPR1). 27108797

2016
dbSNP: rs752281590
rs752281590
ITPR1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs752281590
rs752281590
ITPR1
0.800 GeneticVariation UNIPROT

dbSNP: rs752281590
rs752281590
ITPR1
C 0.800 CausalMutation CLINVAR

dbSNP: rs752281590
rs752281590
ITPR1
A 0.800 CausalMutation CLINVAR

dbSNP: rs878853176
rs878853176
ITPR1
G 0.800 CausalMutation CLINVAR

dbSNP: rs1553654413
rs1553654413
ITPR1
C 0.700 CausalMutation CLINVAR A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 29663667

2018
dbSNP: rs1553689752
rs1553689752
ITPR1
TTATA 0.700 CausalMutation CLINVAR Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. 29169895

2018
dbSNP: rs878853175
rs878853175
ITPR1
C 0.700 CausalMutation CLINVAR De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 29925855

2018
dbSNP: rs886039392
rs886039392
ITPR1
T 0.700 GeneticVariation CLINVAR Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 27062503

2017
dbSNP: rs1553758021
rs1553758021
ITPR1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559638068
rs1559638068
ITPR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853171
rs878853171
ITPR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853172
rs878853172
ITPR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853173
rs878853173
ITPR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853174
rs878853174
ITPR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853177
rs878853177
ITPR1
G 0.700 CausalMutation CLINVAR

dbSNP: rs886039392
rs886039392
ITPR1
T 0.700 CausalMutation CLINVAR