Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483352867
rs483352867
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		T 0.720 CausalMutation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962

2015
dbSNP: rs483352867
rs483352867
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		T 0.720 CausalMutation CLINVAR York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. 25577287

2015
dbSNP: rs483352867
rs483352867
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		T 0.720 CausalMutation CLINVAR A dominant STIM1 mutation causes Stormorken syndrome. 24619930

2014
dbSNP: rs483352867
rs483352867
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		T 0.720 CausalMutation CLINVAR Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome. 25044882

2014
dbSNP: rs483352867
rs483352867
STIM1
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		T 0.720 CausalMutation CLINVAR Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities. 24591628

2014