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Gene: STIM1 (stromal interaction molecule 1) Homo sapiens

Analyze

Symbol:

STIM1

Name:

stromal interaction molecule 1

RGD ID:

1315668

HGNC Page

HGNC:11386

Description:

Enables several functions, including calcium channel regulator activity; identical protein binding activity; and microtubule plus-end binding activity. Involved in several processes, including detection of calcium ion; enamel mineralization; and regulation of calcium ion transport. Located in cortical endoplasmic reticulum; plasma membrane raft; and sarcoplasmic reticulum membrane. Implicated in Stormorken syndrome; gastrointestinal system cancer (multiple); immunodeficiency 10; lung cancer; and tubular aggregate myopathy 1. Biomarker of hepatocellular carcinoma; lung non-small cell carcinoma; and stomach cancer.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

D11S4896E; GOK; IMD10; STIM1L; STRMK; TAM; TAM1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Stim1 (stromal interaction molecule 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Stim1 (stromal interaction molecule 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Stim1 (stromal interaction molecule 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	STIM1 (stromal interaction molecule 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	STIM1 (stromal interaction molecule 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Stim1 (stromal interaction molecule 1)	NCBI	Ortholog
Sus scrofa (pig):	STIM1 (stromal interaction molecule 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	STIM1 (stromal interaction molecule 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Stim1 (stromal interaction molecule 1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Pla2g2f (phospholipase A2, group IIF)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Stim1 (stromal interaction molecule 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Stim1 (stromal interaction molecule 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	stim1a (stromal interaction molecule 1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	stim1b (stromal interaction molecule 1b)	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Stim	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	stim-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	stim1.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	stim1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	stim1.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	3,854,604 - 4,093,210 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	3,854,527 - 4,093,210 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	3,875,834 - 4,114,440 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	3,833,509 - 4,071,015 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	3,833,508 - 4,071,015	NCBI
Celera	11	3,882,103 - 4,119,396 (+)	NCBI		Celera
Cytogenetic Map	11	p15.4	NCBI
HuRef	11	3,610,828 - 3,847,861 (+)	NCBI		HuRef
CHM1_1	11	3,876,404 - 4,113,905 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	3,919,928 - 4,158,475 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

colorectal cancer (HEP,IAGP)

common variable immunodeficiency 10 (IAGP)

congenital structural myopathy (EXP)

delta beta-thalassemia (IAGP)

developmental and epileptic encephalopathy (IAGP)

early infantile epileptic encephalopathy (IAGP)

esophagus squamous cell carcinoma (HEP)

Experimental Neoplasms (EXP)

gastrointestinal stromal tumor (IMP)

genetic disease (IAGP)

hepatocellular carcinoma (IEP)

hypertension (EXP)

immunodeficiency 10 (EXP,IAGP)

juvenile rheumatoid arthritis (EXP)

lung cancer (IMP)

Lung Neoplasms (EXP)

lung non-small cell carcinoma (IEP)

migraine (IAGP)

Neointima (ISO)

Neoplasm Metastasis (IEP,IMP,IPI)

nephrogenic diabetes insipidus (ISO)

stomach cancer (IEP)

Stormorken syndrome (IAGP,ISS)

Tubular Aggregate Myopathies (IAGP)

tubular aggregate myopathy 1 (IAGP,ISS)

Vacuolar Myopathy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,4,6-trinitrobenzenesulfonic acid (ISO)

2,4-dinitrotoluene (ISO)

2,6-dimethoxyphenol (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrolein (EXP)

Aflatoxin B2 alpha (EXP)

aldehydo-D-glucose (ISO)

all-trans-retinoic acid (ISO)

alpha-pinene (EXP)

aristolochic acid A (EXP)

Aroclor 1254 (EXP)

Azoxymethane (ISO)

benzatropine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

bisphenol F (EXP,ISO)

caffeine (EXP,ISO)

calcium atom (EXP,ISO)

calcium(0) (EXP,ISO)

carbon nanotube (ISO)

clozapine (EXP)

corosolic acid (ISO)

D-glucose (ISO)

dexamethasone (EXP)

dextran sulfate (ISO)

dibenzo[a,l]pyrene (ISO)

diethylstilbestrol (ISO)

doxorubicin (EXP)

epoxiconazole (ISO)

ethanol (EXP,ISO)

folic acid (ISO)

FR900359 (EXP)

furfural (EXP)

genistein (ISO)

glucose (ISO)

indometacin (EXP)

ionomycin (EXP)

ivermectin (EXP)

ketamine (ISO)

ketoconazole (ISO)

lead diacetate (ISO)

lead(0) (EXP)

lithocholic acid (ISO)

methamphetamine (ISO)

methoxyacetic acid (ISO)

methylmercury chloride (ISO)

mono(2-ethylhexyl) phthalate (ISO)

Monobutylphthalate (ISO)

N-methyl-4-phenylpyridinium (ISO)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

rotenone (ISO)

SKF-96365 hydrochloride (ISO)

sodium arsenite (EXP,ISO)

sodium chloride (EXP)

sodium fluoride (ISO)

sunitinib (EXP)

tamoxifen (ISO)

taurodeoxycholic acid (ISO)

tetrachloromethane (ISO)

thapsigargin (EXP,ISO)

thioacetamide (ISO)

thiram (EXP)

titanium dioxide (EXP,ISO)

triphenyl phosphate (EXP)

triptonide (ISO)

usnic acid (EXP,ISO)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

activation of store-operated calcium channel activity (IDA,ISO)

calcium ion transport (IEA)

detection of calcium ion (IDA)

enamel mineralization (IMP)

establishment of localization in cell (ISO)

intracellular calcium ion homeostasis (IBA)

ion channel modulating, G protein-coupled receptor signaling pathway (ISO)

ligand-gated ion channel signaling pathway (ISO)

monoatomic cation transport (ISO)

myotube differentiation (ISO)

phospholipase C-activating G protein-coupled acetylcholine receptor signaling pathway (ISO)

phospholipase C-activating G protein-coupled receptor signaling pathway (ISO)

positive regulation of adenylate cyclase activity (IDA)

positive regulation of angiogenesis (IMP)

positive regulation of insulin secretion (ISO)

regulation of calcium ion transport (IDA)

regulation of store-operated calcium entry (IMP,ISO)

regulation of transport (IEA)

store-operated calcium entry (IBA,IDA,ISO)

Cellular Component

cortical endoplasmic reticulum (IDA,TAS)

cytoplasm (IEA)

cytoskeleton (IEA)

endoplasmic reticulum (IBA,IDA)

endoplasmic reticulum membrane (IDA,IEA,TAS)

growth cone (ISO)

membrane (IEA)

microtubule (IEA)

plasma membrane (IBA,IDA,IEA)

plasma membrane raft (IDA)

sarcoplasmic reticulum (IEA)

sarcoplasmic reticulum membrane (IDA)

Molecular Function

calcium channel regulator activity (IBA,IDA,IEA,IGI,ISO)

calcium ion binding (IBA,IDA)

channel activator activity (ISO)

identical protein binding (IPI)

ion channel regulator activity involved in G protein-coupled receptor signaling pathway (ISO)

metal ion binding (IEA)

microtubule plus-end binding (IDA)

protease binding (IPI)

protein binding (IPI)

store-operated calcium channel activity (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

calcium transport pathway (TAS)

calcium/calcium-mediated signaling pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal bleeding (IAGP)

Abnormal lymphocyte count (IAGP)

Abnormal pupil morphology (IAGP)

Abnormal speech pattern (IAGP)

Abnormality of coagulation (IAGP)

Abnormality of the musculature (IAGP)

Abnormality of thrombocytes (IAGP)

Adult onset (IAGP)

Amelogenesis imperfecta (IAGP)

Anemia (IAGP)

Areflexia of lower limbs (IAGP)

Asplenia (IAGP)

Autoimmune hemolytic anemia (IAGP)

Autoimmune thrombocytopenia (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Bruising susceptibility (IAGP)

Centrally nucleated skeletal muscle fibers (IAGP)

Childhood onset (IAGP)

Decreased circulating IgA concentration (IAGP)

Decreased circulating IgG concentration (IAGP)

Decreased circulating total IgM (IAGP)

Deeply set eye (IAGP)

Difficulty running (IAGP)

Dyslexia (IAGP)

Easy fatigability (IAGP)

Elevated circulating creatine kinase concentration (IAGP)

EMG: myopathic abnormalities (IAGP)

Epistaxis (IAGP)

Exercise-induced myalgia (IAGP)

External ophthalmoplegia (IAGP)

Fatigable weakness (IAGP)

Fatiguable weakness of proximal limb muscles (IAGP)

Flexion contracture (IAGP)

Frequent falls (IAGP)

Hematuria (IAGP)

Hepatomegaly (IAGP)

High forehead (IAGP)

Howell-Jolly bodies (IAGP)

Hypoglycemia (IAGP)

Hypohidrosis (IAGP)

Hypoplasia of the iris (IAGP)

Hypoplastic spleen (IAGP)

Hyporeflexia of lower limbs (IAGP)

Hypotelorism (IAGP)

Hypotonia (IAGP)

Ichthyosis (IAGP)

Immunodeficiency (IAGP)

Increased circulating IgA concentration (IAGP)

Increased circulating IgG3 level (IAGP)

Increased circulating lactate dehydrogenase concentration (IAGP)

Increased muscle fatiguability (IAGP)

Increased variability in muscle fiber diameter (IAGP)

Joint contracture (IAGP)

Juvenile onset (IAGP)

Kaposi's sarcoma (IAGP)

Lymphadenopathy (IAGP)

Migraine (IAGP)

Miosis (IAGP)

Muscle fiber tubular inclusions (IAGP)

Muscle spasm (IAGP)

Muscle stiffness (IAGP)

Myalgia (IAGP)

Myopathy (IAGP)

Nail dysplasia (IAGP)

Neonatal onset (IAGP)

Neoplasm of the large intestine (IAGP)

Nephrotic syndrome (IAGP)

Nyctalopia (IAGP)

Progressive (IAGP)

Prominent nose (IAGP)

Proximal amyotrophy (IAGP)

Proximal muscle weakness (IAGP)

Purpura (IAGP)

Recurrent bacterial infections (IAGP)

Recurrent fever (IAGP)

Recurrent infections (IAGP)

Recurrent otitis media (IAGP)

Recurrent pneumonia (IAGP)

Recurrent urinary tract infections (IAGP)

Respiratory insufficiency (IAGP)

Sepsis (IAGP)

Short philtrum (IAGP)

Short stature (IAGP)

Slowly progressive (IAGP)

Splenomegaly (IAGP)

Stroke-like episode (IAGP)

Subarachnoid hemorrhage (IAGP)

Thrombocytopenia (IAGP)

Type 1 muscle fiber predominance (IAGP)

Type 2 muscle fiber atrophy (IAGP)

Weakness of the intrinsic hand muscles (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	RNA interference targeting STIM1 suppresses vascular smooth muscle cell proliferation and neointima formation in the rat.	Aubart FC, etal., Mol Ther. 2009 Mar;17(3):455-62. doi: 10.1038/mt.2008.291. Epub 2008 Dec 23.
2.	Plasma Long Non-Coding RNA RP11-438N5.3 as a Novel Biomarker for Non-Small Cell Lung Cancer.	Chen Q, etal., Cancer Manag Res. 2020 Feb 28;12:1513-1521. doi: 10.2147/CMAR.S237024. eCollection 2020.
3.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
4.	Defective Store-Operated Calcium Entry Causes Partial Nephrogenic Diabetes Insipidus.	Mamenko M, etal., J Am Soc Nephrol. 2016 Jul;27(7):2035-48. doi: 10.1681/ASN.2014121200. Epub 2015 Nov 16.
5.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
6.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
8.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9.	STIM proteins: dynamic calcium signal transducers.	Soboloff J, etal., Nat Rev Mol Cell Biol. 2012 Sep;13(9):549-65. doi: 10.1038/nrm3414.
10.	Stromal interaction molecule 1 promotes tumor growth in Esophageal squamous cell carcinoma.	Tang J, etal., Genomics. 2020 May;112(3):2146-2153. doi: 10.1016/j.ygeno.2019.12.008. Epub 2019 Dec 13.
11.	STIM1 overexpression promotes colorectal cancer progression, cell motility and COX-2 expression.	Wang JY, etal., Oncogene. 2015 Aug 13;34(33):4358-67. doi: 10.1038/onc.2014.366. Epub 2014 Nov 10.
12.	STIM1 silencing inhibits the migration and invasion of A549 cells.	Wang Y, etal., Mol Med Rep. 2017 Sep;16(3):3283-3289. doi: 10.3892/mmr.2017.7010. Epub 2017 Jul 15.
13.	Elevated expression of STIM1 is involved in lung tumorigenesis.	Wang Y, etal., Oncotarget. 2016 Dec 27;7(52):86584-86593. doi: 10.18632/oncotarget.13359.
14.	EB virus promotes metastatic potential by boosting STIM1-dependent Ca2+ signaling in nasopharyngeal carcinoma cells.	Wei J, etal., Cancer Lett. 2020 May 28;478:122-132. doi: 10.1016/j.canlet.2020.03.005. Epub 2020 Mar 9.
15.	Elevated Orai1 and STIM1 expressions upregulate MACC1 expression to promote tumor cell proliferation, metabolism, migration, and invasion in human gastric cancer.	Xia J, etal., Cancer Lett. 2016 Oct 10;381(1):31-40. doi: 10.1016/j.canlet.2016.07.014. Epub 2016 Jul 16.
16.	Stromal interaction molecule 1 plays an important role in gastric cancer progression.	Xu JM, etal., Oncol Rep. 2016 Jun;35(6):3496-504. doi: 10.3892/or.2016.4704. Epub 2016 Mar 24.
17.	Blockade of store-operated Ca(2+) entry inhibits hepatocarcinoma cell migration and invasion by regulating focal adhesion turnover.	Yang N, etal., Cancer Lett. 2013 Apr 28;330(2):163-9. doi: 10.1016/j.canlet.2012.11.040. Epub 2012 Dec 2.
18.	Inhibition of stromal-interacting molecule 1-mediated store-operated Ca2+ entry as a novel strategy for the treatment of acquired imatinib-resistant gastrointestinal stromal tumors.	Yang Z, etal., Cancer Sci. 2018 Sep;109(9):2792-2800. doi: 10.1111/cas.13718. Epub 2018 Jul 28.
19.	STIM1, a direct target of microRNA-185, promotes tumor metastasis and is associated with poor prognosis in colorectal cancer.	Zhang Z, etal., Oncogene. 2015 Sep 10;34(37):4808-20. doi: 10.1038/onc.2014.404. Epub 2014 Dec 22.
20.	STIM1 is a metabolic checkpoint regulating the invasion and metastasis of hepatocellular carcinoma.	Zhao H, etal., Theranostics. 2020 May 16;10(14):6483-6499. doi: 10.7150/thno.44025. eCollection 2020.
21.	Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer.	Zhu L, etal., Eur J Cancer Prev. 2021 Sep 1;30(5):357-363. doi: 10.1097/CEJ.0000000000000641.

Additional References at PubMed

PMID:225862	PMID:8707854	PMID:8921403	PMID:9377559	PMID:10575208	PMID:11004585	PMID:11463338	PMID:11983428	PMID:12477932	PMID:12754519	PMID:14582397	PMID:14702039
PMID:15866891	PMID:16005298	PMID:16208375	PMID:16263699	PMID:16537481	PMID:16733527	PMID:16766533	PMID:16807233	PMID:16860747	PMID:16870612	PMID:16906149	PMID:16966422
PMID:16987424	PMID:17020874	PMID:17045966	PMID:17081983	PMID:17158173	PMID:17218358	PMID:17224452	PMID:17283081	PMID:17298947	PMID:17299780	PMID:17360414	PMID:17486119
PMID:17517596	PMID:17684017	PMID:17702753	PMID:17905723	PMID:17925382	PMID:18029348	PMID:18166150	PMID:18187424	PMID:18190941	PMID:18249114	PMID:18250319	PMID:18326500
PMID:18337467	PMID:18403424	PMID:18420269	PMID:18430726	PMID:18448669	PMID:18484746	PMID:18506892	PMID:18542992	PMID:18569867	PMID:18635545	PMID:18644792	PMID:18768920
PMID:18778263	PMID:18802022	PMID:18832420	PMID:18843204	PMID:18845811	PMID:18854159	PMID:18995841	PMID:19019825	PMID:19052075	PMID:19088073	PMID:19111578	PMID:19171672
PMID:19182790	PMID:19185847	PMID:19189966	PMID:19249086	PMID:19260825	PMID:19272522	PMID:19287379	PMID:19307462	PMID:19327826	PMID:19332491	PMID:19403622	PMID:19420366
PMID:19429662	PMID:19433061	PMID:19433064	PMID:19447651	PMID:19487696	PMID:19506081	PMID:19622747	PMID:19626660	PMID:19631699	PMID:19632184	PMID:19694801	PMID:19706554
PMID:19754898	PMID:19765994	PMID:19843011	PMID:19881501	PMID:19897728	PMID:19906989	PMID:20073506	PMID:20194530	PMID:20375143	PMID:20418871	PMID:20436167	PMID:20534587
PMID:20562859	PMID:20587595	PMID:20629634	PMID:20679432	PMID:20736304	PMID:20808796	PMID:20876309	PMID:20926378	PMID:20929812	PMID:20976103	PMID:21081754	PMID:21126331
PMID:21193399	PMID:21217057	PMID:21220420	PMID:21220431	PMID:21239714	PMID:21255618	PMID:21321120	PMID:21408196	PMID:21427704	PMID:21432868	PMID:21499266	PMID:21540881
PMID:21640715	PMID:21724845	PMID:21788372	PMID:21790973	PMID:21873635	PMID:21876174	PMID:21880734	PMID:21906591	PMID:21941299	PMID:21956116	PMID:22031597	PMID:22110130
PMID:22246182	PMID:22260675	PMID:22278058	PMID:22298778	PMID:22381755	PMID:22384096	PMID:22387225	PMID:22438918	PMID:22446186	PMID:22451904	PMID:22464749	PMID:22494970
PMID:22498042	PMID:22549787	PMID:22586105	PMID:22592407	PMID:22748319	PMID:22810586	PMID:22842488	PMID:22904194	PMID:22939629	PMID:22984609	PMID:22992728	PMID:23022228
PMID:23041196	PMID:23043102	PMID:23049826	PMID:23068106	PMID:23076152	PMID:23108404	PMID:23184982	PMID:23203806	PMID:23203809	PMID:23212906	PMID:23261659	PMID:23272049
PMID:23277085	PMID:23289723	PMID:23320111	PMID:23332920	PMID:23348743	PMID:23378028	PMID:23395841	PMID:23397206	PMID:23447534	PMID:23458835	PMID:23512987	PMID:23512989
PMID:23515871	PMID:23572507	PMID:23578185	PMID:23613525	PMID:23625915	PMID:23668188	PMID:23687376	PMID:23690558	PMID:23698468	PMID:23700407	PMID:23713409	PMID:23714431
PMID:23798062	PMID:23800047	PMID:23816623	PMID:23871111	PMID:23943619	PMID:23994313	PMID:24044355	PMID:24109210	PMID:24114840	PMID:24308967	PMID:24351972	PMID:24463606
PMID:24464579	PMID:24489003	PMID:24492416	PMID:24556214	PMID:24570283	PMID:24583265	PMID:24591628	PMID:24603752	PMID:24619930	PMID:24621671	PMID:24672054	PMID:24681268
PMID:24755083	PMID:24806964	PMID:24811382	PMID:24842273	PMID:24845346	PMID:24954132	PMID:24957221	PMID:24996186	PMID:25015419	PMID:25016017	PMID:25030742	PMID:25044882
PMID:25057023	PMID:25088676	PMID:25190815	PMID:25296861	PMID:25326555	PMID:25342749	PMID:25384971	PMID:25404747	PMID:25447552	PMID:25468996	PMID:25517631	PMID:25533457
PMID:25577287	PMID:25645930	PMID:25712868	PMID:25736291	PMID:25788524	PMID:25805497	PMID:25832866	PMID:25840641	PMID:25884983	PMID:25915399	PMID:25918394	PMID:25935105
PMID:25953320	PMID:25996873	PMID:26116575	PMID:26166565	PMID:26184105	PMID:26186194	PMID:26232624	PMID:26257076	PMID:26322679	PMID:26344197	PMID:26351694	PMID:26399906
PMID:26453325	PMID:26454179	PMID:26455959	PMID:26469693	PMID:26543234	PMID:26546674	PMID:26560041	PMID:26576490	PMID:26638075	PMID:26643254	PMID:26644574	PMID:26670474
PMID:26694763	PMID:26738614	PMID:26775216	PMID:26809794	PMID:26825122	PMID:26826124	PMID:26911279	PMID:26912792	PMID:26919241	PMID:26972000	PMID:27068144	PMID:27068962
PMID:27069021	PMID:27173435	PMID:27185316	PMID:27375898	PMID:27414851	PMID:27459950	PMID:27506849	PMID:27528628	PMID:27601731	PMID:27753099	PMID:27793015	PMID:27847114
PMID:27879676	PMID:27880917	PMID:27929067	PMID:28058752	PMID:28145580	PMID:28151650	PMID:28185894	PMID:28218251	PMID:28219928	PMID:28220789	PMID:28231751	PMID:28326487
PMID:28341841	PMID:28380382	PMID:28385807	PMID:28479254	PMID:28514442	PMID:28515276	PMID:28534934	PMID:28600435	PMID:28624464	PMID:28692057	PMID:28712289	PMID:28724757
PMID:28851859	PMID:28866365	PMID:28869106	PMID:28912430	PMID:29048678	PMID:29051492	PMID:29093564	PMID:29180619	PMID:29237734	PMID:29242293	PMID:29284605	PMID:29298434
PMID:29326165	PMID:29395067	PMID:29414068	PMID:29483506	PMID:29509190	PMID:29540532	PMID:29563214	PMID:29568061	PMID:29581306	PMID:29661937	PMID:29677491	PMID:29705071
PMID:29709426	PMID:29748135	PMID:29954946	PMID:30021884	PMID:30088035	PMID:30114708	PMID:30120197	PMID:30131394	PMID:30185837	PMID:30194290	PMID:30241943	PMID:30243034
PMID:30317585	PMID:30408546	PMID:30414508	PMID:30444880	PMID:30475382	PMID:30481768	PMID:30508734	PMID:30530091	PMID:30576443	PMID:30589833	PMID:30630032	PMID:30643259
PMID:30737378	PMID:30807904	PMID:30831274	PMID:30850711	PMID:30902388	PMID:30949876	PMID:30975919	PMID:31009446	PMID:31018906	PMID:31056421	PMID:31064875	PMID:31073040
PMID:31177093	PMID:31366337	PMID:31493399	PMID:31564210	PMID:31744929	PMID:31818466	PMID:31831524	PMID:31838437	PMID:31844136	PMID:31871319	PMID:32038646	PMID:32056202
PMID:32098964	PMID:32118726	PMID:32176842	PMID:32235678	PMID:32296183	PMID:32330125	PMID:32415068	PMID:32575830	PMID:32589186	PMID:32601188	PMID:32641503	PMID:32764353
PMID:32788342	PMID:32795540	PMID:32814053	PMID:32838362	PMID:32867798	PMID:32877691	PMID:32879390	PMID:32916960	PMID:33023909	PMID:33060197	PMID:33073872	PMID:33106661
PMID:33124982	PMID:33278394	PMID:33361160	PMID:33414420	PMID:33430308	PMID:33436389	PMID:33468626	PMID:33473127	PMID:33649206	PMID:33713955	PMID:33730587	PMID:33733462
PMID:33760103	PMID:33802838	PMID:33859736	PMID:33907089	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34155535	PMID:34192542	PMID:34368974	PMID:34432599	PMID:34498097
PMID:34592581	PMID:34597346	PMID:34653219	PMID:34685702	PMID:34702682	PMID:34705029	PMID:34709727	PMID:34730514	PMID:34757454	PMID:34819389	PMID:34939697	PMID:34942054
PMID:35007762	PMID:35008585	PMID:35147077	PMID:35256949	PMID:35271311	PMID:35367664	PMID:35384245	PMID:35439114	PMID:35439318	PMID:35509820	PMID:35545047	PMID:35696571
PMID:35724962	PMID:35792400	PMID:35831314	PMID:35844135	PMID:35944360	PMID:36114006	PMID:36180527	PMID:36215168	PMID:36217030	PMID:36232890	PMID:36317924	PMID:36356899
PMID:36404683	PMID:36429103	PMID:36442136	PMID:36524441	PMID:36543142	PMID:36677874	PMID:36691702	PMID:36736316	PMID:36749087	PMID:36779763	PMID:36924231	PMID:36931259
PMID:36940741	PMID:36966971	PMID:36976175	PMID:37194587	PMID:37380078	PMID:37399784	PMID:37452066	PMID:37685995	PMID:37768083	PMID:37774976	PMID:37827155	PMID:37931956
PMID:38060449	PMID:38224453	PMID:38340977	PMID:38526208	PMID:38569033	PMID:38753510	PMID:38755179	PMID:38771147	PMID:38918943	PMID:39122007	PMID:39214396	PMID:39231216

Genomics

Comparative Map Data

STIM1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	3,854,604 - 4,093,210 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	3,854,527 - 4,093,210 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	3,875,834 - 4,114,440 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	3,833,509 - 4,071,015 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	3,833,508 - 4,071,015	NCBI
Celera	11	3,882,103 - 4,119,396 (+)	NCBI		Celera
Cytogenetic Map	11	p15.4	NCBI
HuRef	11	3,610,828 - 3,847,861 (+)	NCBI		HuRef
CHM1_1	11	3,876,404 - 4,113,905 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	3,919,928 - 4,158,475 (+)	NCBI		T2T-CHM13v2.0

Stim1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	101,909,279 - 102,086,525 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	101,917,013 - 102,086,526 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	102,261,514 - 102,437,319 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	102,267,806 - 102,437,319 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	109,416,338 - 109,585,374 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	102,141,645 - 102,310,681 (+)	NCBI		MGSCv36	mm8
Celera	7	102,604,834 - 102,804,802 (+)	NCBI		Celera
Cytogenetic Map	7	E2- E3	NCBI
cM Map	7	54.71	NCBI

Stim1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	166,067,450 - 166,230,733 (+)	NCBI		GRCr8
mRatBN7.2	1	156,656,246 - 156,818,777 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	156,656,013 - 156,818,363 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	164,634,178 - 164,796,508 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	171,814,265 - 171,976,603 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	164,691,930 - 164,854,456 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	167,373,894 - 167,533,412 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	167,373,678 - 167,533,420 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	173,562,261 - 173,722,026 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	159,761,567 - 159,925,836 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	159,840,391 - 160,004,859 (+)	NCBI
Celera	1	154,724,106 - 154,885,972 (+)	NCBI		Celera
Cytogenetic Map	1	q32	NCBI

Stim1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955414	19,652,990 - 19,847,964 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	19,652,990 - 19,849,353 (+)	NCBI	ChiLan1.0	ChiLan1.0

STIM1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	9	6,116,620 - 6,348,535 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	5,356,234 - 5,588,264 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	3,726,501 - 3,954,951 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	3,839,958 - 4,066,644 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	3,840,513 - 4,065,224 (+)	Ensembl	panpan1.1		panPan2

STIM1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	26,394,592 - 26,594,764 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	26,394,811 - 26,593,375 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	26,165,634 - 26,364,115 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	26,605,233 - 26,804,185 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	26,604,981 - 26,804,177 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	26,396,567 - 26,594,567 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	26,612,342 - 26,810,837 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	26,514,667 - 26,713,342 (+)	NCBI		UU_Cfam_GSD_1.0

Stim1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	59,250,243 - 59,464,016 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936498	849,739 - 1,063,552 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936498	849,775 - 1,063,552 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

STIM1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	6,066,617 - 6,270,575 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	6,066,612 - 6,270,090 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	6,848,913 - 7,055,195 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

STIM1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	1	62,651,472 - 62,865,992 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	62,651,290 - 62,865,986 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	63,036,418 - 63,251,216 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Stim1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624817	5,291,717 - 5,522,864 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624817	5,291,111 - 5,522,732 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in STIM1
708 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001382567.1(STIM1):c.1170C>G (p.Leu390=)	single nucleotide variant	Stormorken syndrome [RCV000551195]	Chr11:4082914 [GRCh38] Chr11:4104144 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001291831]\|Myopathy, tubular aggregate, 1 [RCV003448319]\|Stormorken syndrome [RCV000526622]\|not provided [RCV002260646]	Chr11:4055598 [GRCh38] Chr11:4076828 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1185C>T (p.His395=)	single nucleotide variant	Stormorken syndrome [RCV000524923]	Chr11:4082929 [GRCh38] Chr11:4104159 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1425C>T (p.Asp475=)	single nucleotide variant	Stormorken syndrome [RCV000553066]	Chr11:4083449 [GRCh38] Chr11:4104679 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1299C>T (p.Ile433=)	single nucleotide variant	Stormorken syndrome [RCV001448307]	Chr11:4083323 [GRCh38] Chr11:4104553 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.234T>C (p.Asp78=)	single nucleotide variant	STIM1-related disorder [RCV003935432]\|Stormorken syndrome [RCV000525704]	Chr11:3967646 [GRCh38] Chr11:3988876 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.387A>G (p.Val129=)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV002497106]\|Stormorken syndrome [RCV000548359]\|not provided [RCV004718718]	Chr11:4055527 [GRCh38] Chr11:4076757 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.2142T>A (p.Leu714=)	single nucleotide variant	Stormorken syndrome [RCV002231372]	Chr11:4091789 [GRCh38] Chr11:4113019 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys)	single nucleotide variant	Stormorken syndrome [RCV000532168]\|Stormorken syndrome [RCV000626054]\|not provided [RCV001508662]	Chr11:4091328 [GRCh38] Chr11:4112558 [GRCh37] Chr11:11p15.4	likely pathogenic\|uncertain significance
NM_001382567.1(STIM1):c.1285C>T (p.Arg429Cys)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV000034350]\|Stormorken syndrome [RCV001061682]	Chr11:4083309 [GRCh38] Chr11:4104539 [GRCh37] Chr11:11p15.4	pathogenic\|uncertain significance
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly)	single nucleotide variant	Myopathy with tubular aggregates [RCV004586032]\|Myopathy, tubular aggregate, 1 [RCV000034365]	Chr11:3967663 [GRCh38] Chr11:3988893 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.325C>A (p.His109Asn)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000034366]	Chr11:4023927 [GRCh38] Chr11:4045157 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.326A>G (p.His109Arg)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000034367]\|Stormorken syndrome [RCV000814240]\|not provided [RCV001781342]	Chr11:4023928 [GRCh38] Chr11:4045158 [GRCh37] Chr11:11p15.4	pathogenic\|likely pathogenic
NM_001382567.1(STIM1):c.385+10749C>T	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001291833]	Chr11:4034736 [GRCh38] Chr11:4055966 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-11734G>A	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001291834]	Chr11:4043792 [GRCh38] Chr11:4065022 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.970-1G>A	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV000023497]	Chr11:4082183 [GRCh38] Chr11:4103413 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.381dup (p.Glu128fs)	duplication	Combined immunodeficiency due to STIM1 deficiency [RCV000004976]	Chr11:4023982..4023983 [GRCh38] Chr11:4045212..4045213 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.216C>A (p.His72Gln)	single nucleotide variant	Myopathy, autophagic vacuolar, infantile-onset [RCV004587609]	Chr11:3967628 [GRCh38] Chr11:3988858 [GRCh37] Chr11:11p15.4	pathogenic\|likely pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	copy number gain	See cases [RCV000050927]	Chr11:196966..4435344 [GRCh38] Chr11:196966..4456574 [GRCh37] Chr11:186966..4413150 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3	copy number gain	See cases [RCV000053616]	Chr11:3745061..7846057 [GRCh38] Chr11:3766291..7867604 [GRCh37] Chr11:3722867..7824180 [NCBI36] Chr11:11p15.4	pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3	copy number gain	See cases [RCV000053613]	Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13	pathogenic
NM_001382567.1(STIM1):c.910C>T (p.Arg304Trp)	single nucleotide variant	Stormorken syndrome [RCV000128580]\|Stormorken syndrome [RCV000850608]\|Stormorken syndrome [RCV002228364]\|not provided [RCV004815190]	Chr11:4074620 [GRCh38] Chr11:4095850 [GRCh37] Chr11:11p15.4	pathogenic\|not provided
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2	copy number gain	See cases [RCV001310286]	Chr11:10701..5080415 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.1075G>C (p.Val359Leu)	single nucleotide variant	Stormorken syndrome [RCV001348568]	Chr11:4082289 [GRCh38] Chr11:4103519 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000144069]\|Stormorken syndrome [RCV000169763]\|Stormorken syndrome [RCV000537798]\|not provided [RCV000132725]	Chr11:4023945 [GRCh38] Chr11:4045175 [GRCh37] Chr11:11p15.4	pathogenic\|not provided
STIM1, ILE115PHE	single nucleotide variant	Myopathy with tubular aggregates [RCV000144069]		pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	copy number gain	See cases [RCV000133997]	Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1	pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	copy number gain	See cases [RCV000139987]	Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4	pathogenic
GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	copy number gain	See cases [RCV000141996]	Chr11:3685244..4414881 [GRCh38] Chr11:3706474..4436111 [GRCh37] Chr11:3663050..4392687 [NCBI36] Chr11:11p15.4	uncertain significance
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	copy number gain	See cases [RCV000142890]	Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000169764]\|Stormorken syndrome [RCV001068304]	Chr11:3967651 [GRCh38] Chr11:3988881 [GRCh37] Chr11:11p15.4	pathogenic\|likely pathogenic\|not provided
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV002483395]\|Stormorken syndrome [RCV002231720]	Chr11:4023942 [GRCh38] Chr11:4045172 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:3898872-4853895)x1	copy number loss	See cases [RCV000240109]	Chr11:3898872..4853895 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.4(chr11:3629393-4111738)x3	copy number gain	See cases [RCV000240195]	Chr11:3629393..4111738 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3	copy number gain	See cases [RCV000446036]	Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001281026]\|STIM1-related disorder [RCV003891799]\|Stormorken syndrome [RCV001079733]\|not provided [RCV000224722]	Chr11:4091311 [GRCh38] Chr11:4112541 [GRCh37] Chr11:11p15.4	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His)	single nucleotide variant	Stormorken syndrome [RCV000534008]\|not specified [RCV000248465]	Chr11:4091668 [GRCh38] Chr11:4112898 [GRCh37] Chr11:11p15.4	likely benign\|conflicting interpretations of pathogenicity
NM_001382567.1(STIM1):c.385+12C>T	single nucleotide variant	Stormorken syndrome [RCV001523264]\|not provided [RCV004718137]\|not specified [RCV000253462]	Chr11:4023999 [GRCh38] Chr11:4045229 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1896C>G (p.Pro632=)	single nucleotide variant	Stormorken syndrome [RCV000545536]\|not provided [RCV004718136]\|not specified [RCV000253572]	Chr11:4091543 [GRCh38] Chr11:4112773 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala)	single nucleotide variant	Stormorken syndrome [RCV001416553]\|not specified [RCV000243944]	Chr11:4091553 [GRCh38] Chr11:4112783 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=)	single nucleotide variant	Stormorken syndrome [RCV000636932]\|not provided [RCV001701816]\|not specified [RCV000251535]	Chr11:4086520 [GRCh38] Chr11:4107750 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1302G>A (p.Glu434=)	single nucleotide variant	Stormorken syndrome [RCV001082418]\|not provided [RCV000842448]\|not specified [RCV000244458]	Chr11:4083326 [GRCh38] Chr11:4104556 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1138-9T>C	single nucleotide variant	Stormorken syndrome [RCV000526292]\|not provided [RCV004718133]\|not specified [RCV000242522]	Chr11:4082873 [GRCh38] Chr11:4104103 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.*10G>C	single nucleotide variant	not specified [RCV000247574]	Chr11:4091808 [GRCh38] Chr11:4113038 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1474+17C>G	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001808691]\|Myopathy, tubular aggregate, 1 [RCV001808692]\|Stormorken syndrome [RCV001511968]\|Stormorken syndrome [RCV001808693]\|not provided [RCV004718134]\|not specified [RCV000247807]	Chr11:4083515 [GRCh38] Chr11:4104745 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.114C>G (p.Ala38=)	single nucleotide variant	Stormorken syndrome [RCV000536440]\|not provided [RCV003389771]\|not specified [RCV000247904]	Chr11:3856384 [GRCh38] Chr11:3877614 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1080A>G (p.Gln360=)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001808688]\|Myopathy, tubular aggregate, 1 [RCV001808689]\|Stormorken syndrome [RCV001515935]\|Stormorken syndrome [RCV001808690]\|not provided [RCV001824713]\|not specified [RCV000250516]	Chr11:4082294 [GRCh38] Chr11:4103524 [GRCh37] Chr11:11p15.4	benign\|not provided
NM_001382567.1(STIM1):c.1239-13C>T	single nucleotide variant	Stormorken syndrome [RCV001509684]\|not provided [RCV000842447]\|not specified [RCV000252869]	Chr11:4083250 [GRCh38] Chr11:4104480 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1705C>T (p.Pro569Ser)	single nucleotide variant	Stormorken syndrome [RCV000546882]\|not provided [RCV004718135]\|not specified [RCV000248185]	Chr11:4091352 [GRCh38] Chr11:4112582 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1856A>G (p.His619Arg)	single nucleotide variant	Stormorken syndrome [RCV000530795]\|not provided [RCV004808754]	Chr11:4091503 [GRCh38] Chr11:4112733 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+269C>G	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV003224345]\|STIM1-related disorder [RCV003945462]\|not provided [RCV001704698]	Chr11:4086812 [GRCh38] Chr11:4108042 [GRCh37] Chr11:11p15.4	benign\|likely benign\|uncertain significance
NM_001382567.1(STIM1):c.1937G>A (p.Arg646His)	single nucleotide variant	Stormorken syndrome [RCV000548778]\|Stormorken syndrome [RCV003387876]	Chr11:4091584 [GRCh38] Chr11:4112814 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1993C>T (p.Arg665Ter)	single nucleotide variant	not provided [RCV000578905]	Chr11:4091640 [GRCh38] Chr11:4112870 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1765C>T (p.Arg589Trp)	single nucleotide variant	Stormorken syndrome [RCV000686846]\|not provided [RCV000522728]	Chr11:4091412 [GRCh38] Chr11:4112642 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.597C>A (p.Leu199=)	single nucleotide variant	Stormorken syndrome [RCV000529839]\|not provided [RCV004707321]\|not specified [RCV000613269]	Chr11:4059380 [GRCh38] Chr11:4080610 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp)	single nucleotide variant	Stormorken syndrome [RCV000541355]\|not provided [RCV000658582]	Chr11:4055628 [GRCh38] Chr11:4076858 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1603A>G (p.Thr535Ala)	single nucleotide variant	Stormorken syndrome [RCV001053385]\|not provided [RCV000416109]	Chr11:4086512 [GRCh38] Chr11:4107742 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1604C>T (p.Thr535Met)	single nucleotide variant	Stormorken syndrome [RCV001082603]\|not provided [RCV000838668]	Chr11:4086513 [GRCh38] Chr11:4107743 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.57G>C (p.Gln19His)	single nucleotide variant	Stormorken syndrome [RCV002231373]	Chr11:3856327 [GRCh38] Chr11:3877557 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3	copy number gain	See cases [RCV000449417]	Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.386-11T>C	single nucleotide variant	Stormorken syndrome [RCV002062716]\|not specified [RCV000423677]	Chr11:4055515 [GRCh38] Chr11:4076745 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-8C>T	single nucleotide variant	Stormorken syndrome [RCV000918439]\|not specified [RCV000425591]	Chr11:4082874 [GRCh38] Chr11:4104104 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.221T>C (p.Leu74Pro)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV000416560]	Chr11:3967633 [GRCh38] Chr11:3988863 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV000416561]\|Stormorken syndrome [RCV003766175]	Chr11:4083300 [GRCh38] Chr11:4104530 [GRCh37] Chr11:11p15.4	pathogenic\|uncertain significance
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile)	single nucleotide variant	Stormorken syndrome [RCV001865414]\|not provided [RCV004546498]\|not specified [RCV000455399]	Chr11:3856277 [GRCh38] Chr11:3877507 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+11G>A	single nucleotide variant	Stormorken syndrome [RCV002056741]\|not specified [RCV000485705]	Chr11:4086554 [GRCh38] Chr11:4107784 [GRCh37] Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.4(chr11:3629582-4677492)x3	copy number gain	See cases [RCV000511398]	Chr11:3629582..4677492 [GRCh37] Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	copy number gain	See cases [RCV000511561]	Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001382567.1(STIM1):c.1634+319G>A	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000768100]\|STIM1-related disorder [RCV003918253]\|Stormorken syndrome [RCV001512196]\|not provided [RCV001672952]	Chr11:4086862 [GRCh38] Chr11:4108092 [GRCh37] Chr11:11p15.4	benign\|likely benign\|uncertain significance
NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu)	single nucleotide variant	Stormorken syndrome [RCV002231719]	Chr11:4083358 [GRCh38] Chr11:4104588 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+287G>A	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001281025]\|STIM1-related disorder [RCV003925620]\|Stormorken syndrome [RCV000539110]\|not provided [RCV001591217]	Chr11:4086830 [GRCh38] Chr11:4108060 [GRCh37] Chr11:11p15.4	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr)	single nucleotide variant	Inborn genetic diseases [RCV002528887]\|Stormorken syndrome [RCV000636926]	Chr11:4091700 [GRCh38] Chr11:4112930 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys)	single nucleotide variant	Stormorken syndrome [RCV000636929]\|Stormorken syndrome [RCV002280882]	Chr11:4091364 [GRCh38] Chr11:4112594 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg)	single nucleotide variant	Stormorken syndrome [RCV002231370]	Chr11:4091452 [GRCh38] Chr11:4112682 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.469C>T (p.Leu157=)	single nucleotide variant	Stormorken syndrome [RCV001401935]	Chr11:4055609 [GRCh38] Chr11:4076839 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2130T>C (p.Phe710=)	single nucleotide variant	Stormorken syndrome [RCV002231371]	Chr11:4091777 [GRCh38] Chr11:4113007 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1931C>A (p.Ser644Tyr)	single nucleotide variant	Stormorken syndrome [RCV000560244]\|not provided [RCV004718717]	Chr11:4091578 [GRCh38] Chr11:4112808 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1593G>A (p.Arg531=)	single nucleotide variant	STIM1-related disorder [RCV003928006]\|Stormorken syndrome [RCV001427430]\|not specified [RCV000601256]	Chr11:4086502 [GRCh38] Chr11:4107732 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1238+9C>T	single nucleotide variant	Stormorken syndrome [RCV000539641]	Chr11:4082991 [GRCh38] Chr11:4104221 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.861C>T (p.Arg287=)	single nucleotide variant	Stormorken syndrome [RCV000540001]\|not provided [RCV001755823]	Chr11:4074571 [GRCh38] Chr11:4095801 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.2079C>A (p.Gly693=)	single nucleotide variant	STIM1-related disorder [RCV003935431]\|Stormorken syndrome [RCV000558877]\|not provided [RCV001703193]	Chr11:4091726 [GRCh38] Chr11:4112956 [GRCh37] Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	copy number gain	See cases [RCV000512225]	Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3	pathogenic
NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln)	single nucleotide variant	Stormorken syndrome [RCV002234515]	Chr11:4091659 [GRCh38] Chr11:4112889 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.9A>G (p.Val3=)	single nucleotide variant	Stormorken syndrome [RCV000636925]	Chr11:3856279 [GRCh38] Chr11:3877509 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.1291C>A (p.Gln431Lys)	single nucleotide variant	Stormorken syndrome [RCV002234516]	Chr11:4083315 [GRCh38] Chr11:4104545 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001535612]\|Stormorken syndrome [RCV000636928]\|not provided [RCV003392477]	Chr11:4083406 [GRCh38] Chr11:4104636 [GRCh37] Chr11:11p15.4	uncertain significance\|not provided
NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro)	single nucleotide variant	Stormorken syndrome [RCV002234002]	Chr11:4055613 [GRCh38] Chr11:4076843 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.139+6G>A	single nucleotide variant	Stormorken syndrome [RCV000636931]	Chr11:3856415 [GRCh38] Chr11:3877645 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.570G>T (p.Leu190=)	single nucleotide variant	STIM1-related disorder [RCV003953126]\|Stormorken syndrome [RCV000636933]\|not provided [RCV004597841]	Chr11:4059353 [GRCh38] Chr11:4080583 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1128C>T (p.Ala376=)	single nucleotide variant	Stormorken syndrome [RCV000636934]\|not provided [RCV003392478]	Chr11:4082342 [GRCh38] Chr11:4103572 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1568-9T>C	single nucleotide variant	STIM1-related disorder [RCV003928071]\|Stormorken syndrome [RCV000636936]	Chr11:4086468 [GRCh38] Chr11:4107698 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr)	single nucleotide variant	Migraine [RCV000626792]	Chr11:4086536 [GRCh38] Chr11:4107766 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	copy number gain	See cases [RCV000512477]	Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13	pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3	copy number gain	not provided [RCV000683369]	Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	copy number gain	not provided [RCV000683372]	Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1	pathogenic
NM_001382567.1(STIM1):c.1694C>T (p.Ala565Val)	single nucleotide variant	Stormorken syndrome [RCV000687223]\|not provided [RCV001756164]	Chr11:4091341 [GRCh38] Chr11:4112571 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser)	single nucleotide variant	Stormorken syndrome [RCV002233131]	Chr11:4091559 [GRCh38] Chr11:4112789 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1655C>T (p.Ser552Leu)	single nucleotide variant	Stormorken syndrome [RCV000701753]	Chr11:4091302 [GRCh38] Chr11:4112532 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1452del (p.Ile484fs)	deletion	Stormorken syndrome [RCV000693508]	Chr11:4083475 [GRCh38] Chr11:4104705 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1634+1G>T	single nucleotide variant	Stormorken syndrome [RCV002233602]	Chr11:4086544 [GRCh38] Chr11:4107774 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser)	single nucleotide variant	Stormorken syndrome [RCV000688151]	Chr11:4091694 [GRCh38] Chr11:4112924 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001281002]\|Stormorken syndrome [RCV000688407]\|not specified [RCV003235350]	Chr11:4091494 [GRCh38] Chr11:4112724 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn)	single nucleotide variant	Stormorken syndrome [RCV002232876]	Chr11:4091607 [GRCh38] Chr11:4112837 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1601T>C (p.Leu534Pro)	single nucleotide variant	Stormorken syndrome [RCV002232941]	Chr11:4086510 [GRCh38] Chr11:4107740 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.498-4A>C	single nucleotide variant	Stormorken syndrome [RCV002544916]	Chr11:4059277 [GRCh38] Chr11:4080507 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln)	single nucleotide variant	Inborn genetic diseases [RCV003303120]\|Stormorken syndrome [RCV000689185]	Chr11:3967561 [GRCh38] Chr11:3988791 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser)	single nucleotide variant	Stormorken syndrome [RCV002233581]	Chr11:3856370 [GRCh38] Chr11:3877600 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2105G>A (p.Arg702Gln)	single nucleotide variant	Stormorken syndrome [RCV000700042]	Chr11:4091752 [GRCh38] Chr11:4112982 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn)	single nucleotide variant	Stormorken syndrome [RCV002233692]	Chr11:4091709 [GRCh38] Chr11:4112939 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His)	single nucleotide variant	Stormorken syndrome [RCV002233693]\|not provided [RCV003329334]	Chr11:4091365 [GRCh38] Chr11:4112595 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.725AGA[1] (p.Lys243del)	microsatellite	Stormorken syndrome [RCV002232964]	Chr11:4070135..4070137 [GRCh38] Chr11:4091365..4091367 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1682G>A (p.Arg561His)	single nucleotide variant	Stormorken syndrome [RCV000690054]\|not provided [RCV004692107]	Chr11:4091329 [GRCh38] Chr11:4112559 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys)	single nucleotide variant	Stormorken syndrome [RCV002233247]	Chr11:4082239 [GRCh38] Chr11:4103469 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile)	single nucleotide variant	Stormorken syndrome [RCV002233524]	Chr11:4091321 [GRCh38] Chr11:4112551 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys)	single nucleotide variant	Stormorken syndrome [RCV000690569]\|not provided [RCV003163149]	Chr11:4055594 [GRCh38] Chr11:4076824 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1184A>G (p.His395Arg)	single nucleotide variant	Stormorken syndrome [RCV002233302]	Chr11:4082928 [GRCh38] Chr11:4104158 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1377C>G (p.Ser459Arg)	single nucleotide variant	Stormorken syndrome [RCV002233191]	Chr11:4083401 [GRCh38] Chr11:4104631 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.869_887del (p.Ile290fs)	deletion	Stormorken syndrome [RCV001907839]	Chr11:4074577..4074595 [GRCh38] Chr11:4095807..4095825 [GRCh37] Chr11:11p15.4	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
NM_001382567.1(STIM1):c.1125G>T (p.Val375=)	single nucleotide variant	Stormorken syndrome [RCV000918932]	Chr11:4082339 [GRCh38] Chr11:4103569 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.349G>A (p.Val117Met)	single nucleotide variant	not provided [RCV001532626]	Chr11:4023951 [GRCh38] Chr11:4045181 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+1936A>T	single nucleotide variant	not provided [RCV001693376]	Chr11:4088479 [GRCh38] Chr11:4109709 [GRCh37] Chr11:11p15.4	benign
NC_000011.10:g.(?_3967532)_(4091818_?)dup	duplication	Stormorken syndrome [RCV001032302]	Chr11:3988762..4113048 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1700A>G (p.Lys567Arg)	single nucleotide variant	Stormorken syndrome [RCV001065583]	Chr11:4091347 [GRCh38] Chr11:4112577 [GRCh37] Chr11:11p15.4	benign\|uncertain significance
NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr)	single nucleotide variant	Stormorken syndrome [RCV001067343]	Chr11:4091520 [GRCh38] Chr11:4112750 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.385+143A>T	single nucleotide variant	not provided [RCV001668679]	Chr11:4024130 [GRCh38] Chr11:4045360 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.792-8C>T	single nucleotide variant	Stormorken syndrome [RCV001084865]\|not provided [RCV000876866]	Chr11:4074494 [GRCh38] Chr11:4095724 [GRCh37] Chr11:11p15.4	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001382567.1(STIM1):c.792-8C>A	single nucleotide variant	Stormorken syndrome [RCV001447091]	Chr11:4074494 [GRCh38] Chr11:4095724 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.912G>C (p.Arg304=)	single nucleotide variant	Stormorken syndrome [RCV001423854]	Chr11:4074622 [GRCh38] Chr11:4095852 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.393T>C (p.Asn131=)	single nucleotide variant	Stormorken syndrome [RCV000876103]	Chr11:4055533 [GRCh38] Chr11:4076763 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)	single nucleotide variant	Inborn genetic diseases [RCV002540002]\|Stormorken syndrome [RCV000876410]\|not provided [RCV001355096]\|not specified [RCV003317395]	Chr11:4055548 [GRCh38] Chr11:4076778 [GRCh37] Chr11:11p15.4	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001382567.1(STIM1):c.1848G>A (p.Ala616=)	single nucleotide variant	Stormorken syndrome [RCV000946147]	Chr11:4091495 [GRCh38] Chr11:4112725 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1461C>G (p.Pro487=)	single nucleotide variant	Stormorken syndrome [RCV001440017]	Chr11:4083485 [GRCh38] Chr11:4104715 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.549C>T (p.Asp183=)	single nucleotide variant	Stormorken syndrome [RCV001414849]	Chr11:4059332 [GRCh38] Chr11:4080562 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.872A>G (p.Asn291Ser)	single nucleotide variant	Stormorken syndrome [RCV001051361]	Chr11:4074582 [GRCh38] Chr11:4095812 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.658A>G (p.Ile220Val)	single nucleotide variant	Stormorken syndrome [RCV001035486]	Chr11:4070070 [GRCh38] Chr11:4091300 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val)	single nucleotide variant	Inborn genetic diseases [RCV003243470]\|Stormorken syndrome [RCV001071434]	Chr11:4091548 [GRCh38] Chr11:4112778 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1137+3G>A	single nucleotide variant	Stormorken syndrome [RCV001053288]	Chr11:4082354 [GRCh38] Chr11:4103584 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala)	single nucleotide variant	Stormorken syndrome [RCV001052400]	Chr11:4023906 [GRCh38] Chr11:4045136 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln)	single nucleotide variant	Stormorken syndrome [RCV001039690]\|not provided [RCV003490018]	Chr11:4091641 [GRCh38] Chr11:4112871 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys)	single nucleotide variant	Stormorken syndrome [RCV001060478]	Chr11:4091667 [GRCh38] Chr11:4112897 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.623A>G (p.His208Arg)	single nucleotide variant	Stormorken syndrome [RCV001037775]	Chr11:4070035 [GRCh38] Chr11:4091265 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+2159A>T	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV000785087]	Chr11:4088702 [GRCh38] Chr11:4109932 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.603G>A (p.Gly201=)	single nucleotide variant	Stormorken syndrome [RCV001490026]	Chr11:4059386 [GRCh38] Chr11:4080616 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.742T>C (p.Leu248=)	single nucleotide variant	not provided [RCV000930777]	Chr11:4070154 [GRCh38] Chr11:4091384 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+7A>G	single nucleotide variant	STIM1-related disorder [RCV003955749]\|Stormorken syndrome [RCV001424688]	Chr11:4086550 [GRCh38] Chr11:4107780 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1947C>T (p.Ser649=)	single nucleotide variant	Stormorken syndrome [RCV001398043]	Chr11:4091594 [GRCh38] Chr11:4112824 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.792-3dup	duplication	STIM1-related disorder [RCV003903251]\|Stormorken syndrome [RCV000953810]	Chr11:4074492..4074493 [GRCh38] Chr11:4095722..4095723 [GRCh37] Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	copy number gain	Silver-Russell syndrome 1 [RCV000767567]	Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3	pathogenic
NM_001382567.1(STIM1):c.810G>A (p.Glu270=)	single nucleotide variant	Stormorken syndrome [RCV000951648]	Chr11:4074520 [GRCh38] Chr11:4095750 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.228C>T (p.Asp76=)	single nucleotide variant	Stormorken syndrome [RCV001460054]	Chr11:3967640 [GRCh38] Chr11:3988870 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr)	single nucleotide variant	Stormorken syndrome [RCV002234343]	Chr11:3967558 [GRCh38] Chr11:3988788 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly)	single nucleotide variant	Stormorken syndrome [RCV000821343]\|Stormorken syndrome [RCV002245691]	Chr11:3967594 [GRCh38] Chr11:3988824 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp)	single nucleotide variant	Stormorken syndrome [RCV002234303]	Chr11:4083361 [GRCh38] Chr11:4104591 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)	deletion	Myopathy, tubular aggregate, 1 [RCV003483726]\|Stormorken syndrome [RCV002233886]	Chr11:4070112..4070119 [GRCh38] Chr11:4091342..4091349 [GRCh37] Chr11:11p15.4	pathogenic\|not provided
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser)	single nucleotide variant	Stormorken syndrome [RCV000801365]\|not provided [RCV003166204]	Chr11:4055532 [GRCh38] Chr11:4076762 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp)	single nucleotide variant	Stormorken syndrome [RCV000805053]	Chr11:4091534 [GRCh38] Chr11:4112764 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.580G>T (p.Ala194Ser)	single nucleotide variant	Stormorken syndrome [RCV002235276]	Chr11:4059363 [GRCh38] Chr11:4080593 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.10:g.(?_3856251)_(4091818_?)del	deletion	Myopathy, tubular aggregate, 1 [RCV000823248]\|Stormorken syndrome [RCV001388224]	Chr11:3856251..4091818 [GRCh38] Chr11:3877481..4113048 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val)	single nucleotide variant	Stormorken syndrome [RCV002234708]	Chr11:4091701 [GRCh38] Chr11:4112931 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.398C>T (p.Thr133Ile)	single nucleotide variant	Stormorken syndrome [RCV002235281]	Chr11:4055538 [GRCh38] Chr11:4076768 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1651G>A (p.Asp551Asn)	single nucleotide variant	Inborn genetic diseases [RCV004669126]\|Stormorken syndrome [RCV002234951]	Chr11:4091298 [GRCh38] Chr11:4112528 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2105G>T (p.Arg702Leu)	single nucleotide variant	not provided [RCV000788310]	Chr11:4091752 [GRCh38] Chr11:4112982 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV000804048]	Chr11:4091485 [GRCh38] Chr11:4112715 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.406G>A (p.Glu136Lys)	single nucleotide variant	Stormorken syndrome [RCV002234969]	Chr11:4055546 [GRCh38] Chr11:4076776 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn)	single nucleotide variant	Stormorken syndrome [RCV000824146]\|not provided [RCV002260670]	Chr11:4091634 [GRCh38] Chr11:4112864 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1649C>A (p.Ser550Tyr)	single nucleotide variant	Stormorken syndrome [RCV002234795]	Chr11:4091296 [GRCh38] Chr11:4112526 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-3del	deletion	Stormorken syndrome [RCV002234840]	Chr11:4074493 [GRCh38] Chr11:4095723 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1712T>C (p.Met571Thr)	single nucleotide variant	Stormorken syndrome [RCV002534847]	Chr11:4091359 [GRCh38] Chr11:4112589 [GRCh37] Chr11:11p15.4	benign\|uncertain significance
NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys)	single nucleotide variant	Stormorken syndrome [RCV000824447]	Chr11:3967608 [GRCh38] Chr11:3988838 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.295C>G (p.His99Asp)	single nucleotide variant	Stormorken syndrome [RCV002235470]	Chr11:4023897 [GRCh38] Chr11:4045127 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.177G>A (p.Glu59=)	single nucleotide variant	Stormorken syndrome [RCV000876850]	Chr11:3967589 [GRCh38] Chr11:3988819 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1761C>G (p.Ser587Arg)	single nucleotide variant	Stormorken syndrome [RCV000815507]	Chr11:4091408 [GRCh38] Chr11:4112638 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1729G>A (p.Glu577Lys)	single nucleotide variant	Stormorken syndrome [RCV000802277]	Chr11:4091376 [GRCh38] Chr11:4112606 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.-7T>G	single nucleotide variant	not provided [RCV000788431]	Chr11:3856264 [GRCh38] Chr11:3877494 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-4C>A	single nucleotide variant	Stormorken syndrome [RCV000873852]\|not provided [RCV004546574]\|not specified [RCV003987731]	Chr11:4074498 [GRCh38] Chr11:4095728 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.818G>A (p.Arg273His)	single nucleotide variant	Stormorken syndrome [RCV002234863]	Chr11:4074528 [GRCh38] Chr11:4095758 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.567G>A (p.Lys189=)	single nucleotide variant	not provided [RCV000874286]	Chr11:4059350 [GRCh38] Chr11:4080580 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys)	single nucleotide variant	Stormorken syndrome [RCV000823346]	Chr11:4086506 [GRCh38] Chr11:4107736 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1757G>A (p.Gly586Asp)	single nucleotide variant	Stormorken syndrome [RCV000795281]	Chr11:4091404 [GRCh38] Chr11:4112634 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.306A>G (p.Thr102=)	single nucleotide variant	Stormorken syndrome [RCV000876313]	Chr11:4023908 [GRCh38] Chr11:4045138 [GRCh37] Chr11:11p15.4	likely benign
NM_003156.3:c.1239-13C>T	single nucleotide variant	not provided [RCV000842447]	Chr11:4104480 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1068G>A (p.Glu356=)	single nucleotide variant	Stormorken syndrome [RCV001463610]	Chr11:4082282 [GRCh38] Chr11:4103512 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1305C>T (p.Ile435=)	single nucleotide variant	Stormorken syndrome [RCV000875481]\|not provided [RCV003311907]	Chr11:4083329 [GRCh38] Chr11:4104559 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser)	single nucleotide variant	Stormorken syndrome [RCV001067104]	Chr11:4083483 [GRCh38] Chr11:4104713 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1785C>T (p.His595=)	single nucleotide variant	Stormorken syndrome [RCV001438186]	Chr11:4091432 [GRCh38] Chr11:4112662 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly)	single nucleotide variant	Stormorken syndrome [RCV001045217]	Chr11:4091322 [GRCh38] Chr11:4112552 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	copy number gain	not provided [RCV001006372]	Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13	pathogenic
NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser)	single nucleotide variant	Stormorken syndrome [RCV001230596]\|not provided [RCV004792830]	Chr11:4091401 [GRCh38] Chr11:4112631 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.81C>A (p.His27Gln)	single nucleotide variant	Stormorken syndrome [RCV001212167]	Chr11:3856351 [GRCh38] Chr11:3877581 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001198486]\|Stormorken syndrome [RCV001863128]\|not provided [RCV003490110]	Chr11:3856377 [GRCh38] Chr11:3877607 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala)	single nucleotide variant	Stormorken syndrome [RCV001233190]	Chr11:4059372 [GRCh38] Chr11:4080602 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.859C>T (p.Arg287Cys)	single nucleotide variant	Stormorken syndrome [RCV001223626]	Chr11:4074569 [GRCh38] Chr11:4095799 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.670G>A (p.Val224Met)	single nucleotide variant	Stormorken syndrome [RCV001209511]	Chr11:4070082 [GRCh38] Chr11:4091312 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1609C>G (p.Pro537Ala)	single nucleotide variant	Stormorken syndrome [RCV001234381]	Chr11:4086518 [GRCh38] Chr11:4107748 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu)	single nucleotide variant	Stormorken syndrome [RCV001214360]	Chr11:4091467 [GRCh38] Chr11:4112697 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser)	single nucleotide variant	Stormorken syndrome [RCV001203554]	Chr11:4070164 [GRCh38] Chr11:4091394 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.738G>C (p.Lys246Asn)	single nucleotide variant	Stormorken syndrome [RCV001237299]	Chr11:4070150 [GRCh38] Chr11:4091380 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp)	single nucleotide variant	Inborn genetic diseases [RCV004671275]\|Stormorken syndrome [RCV001225026]	Chr11:4059333 [GRCh38] Chr11:4080563 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala)	single nucleotide variant	Stormorken syndrome [RCV001218119]	Chr11:4082919 [GRCh38] Chr11:4104149 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.271-3C>T	single nucleotide variant	STIM1-related disorder [RCV003973145]\|Stormorken syndrome [RCV001218240]\|not provided [RCV001703089]	Chr11:4023870 [GRCh38] Chr11:4045100 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.1154A>G (p.Lys385Arg)	single nucleotide variant	Stormorken syndrome [RCV001238531]	Chr11:4082898 [GRCh38] Chr11:4104128 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.612C>T (p.Leu204=)	single nucleotide variant	Stormorken syndrome [RCV001221972]	Chr11:4059395 [GRCh38] Chr11:4080625 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.139+4A>G	single nucleotide variant	Stormorken syndrome [RCV001221667]	Chr11:3856413 [GRCh38] Chr11:3877643 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.498-4A>G	single nucleotide variant	Stormorken syndrome [RCV001238721]	Chr11:4059277 [GRCh38] Chr11:4080507 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser)	single nucleotide variant	Inborn genetic diseases [RCV003163711]\|Stormorken syndrome [RCV001222038]	Chr11:4091541 [GRCh38] Chr11:4112771 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu)	single nucleotide variant	Stormorken syndrome [RCV001219247]	Chr11:4059315 [GRCh38] Chr11:4080545 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr)	single nucleotide variant	Stormorken syndrome [RCV001211924]	Chr11:4091469 [GRCh38] Chr11:4112699 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr)	single nucleotide variant	Stormorken syndrome [RCV001212204]	Chr11:4083391 [GRCh38] Chr11:4104621 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+270G>A	single nucleotide variant	not provided [RCV001709184]	Chr11:3967952 [GRCh38] Chr11:3989182 [GRCh37] Chr11:11p15.4	benign
NM_001382566.1(STIM1):c.-84+198del	deletion	not provided [RCV001718025]	Chr11:3855614 [GRCh38] Chr11:3876844 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.385+198G>A	single nucleotide variant	not provided [RCV001657522]	Chr11:4024185 [GRCh38] Chr11:4045415 [GRCh37] Chr11:11p15.4	benign
NM_001382566.1(STIM1):c.-84+190_-84+191insCC	insertion	not provided [RCV001620489]	Chr11:3855605..3855606 [GRCh38] Chr11:3876835..3876836 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.792-59G>T	single nucleotide variant	not provided [RCV001552409]	Chr11:4074443 [GRCh38] Chr11:4095673 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.105C>T (p.Ser35=)	single nucleotide variant	Stormorken syndrome [RCV000876859]\|not provided [RCV003392670]	Chr11:3856375 [GRCh38] Chr11:3877605 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.507C>T (p.Val169=)	single nucleotide variant	STIM1-related disorder [RCV003938343]\|Stormorken syndrome [RCV000874646]	Chr11:4059290 [GRCh38] Chr11:4080520 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.348C>T (p.Ser116=)	single nucleotide variant	Stormorken syndrome [RCV000952320]	Chr11:4023950 [GRCh38] Chr11:4045180 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1204C>T (p.Leu402=)	single nucleotide variant	Stormorken syndrome [RCV001440339]	Chr11:4082948 [GRCh38] Chr11:4104178 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.201A>G (p.Ala67=)	single nucleotide variant	Stormorken syndrome [RCV000875106]\|not provided [RCV003392662]	Chr11:3967613 [GRCh38] Chr11:3988843 [GRCh37] Chr11:11p15.4	benign\|likely benign
NM_001382567.1(STIM1):c.1815C>T (p.Asp605=)	single nucleotide variant	not provided [RCV000980519]	Chr11:4091462 [GRCh38] Chr11:4112692 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.111G>A (p.Gly37=)	single nucleotide variant	Stormorken syndrome [RCV000892788]	Chr11:3856381 [GRCh38] Chr11:3877611 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.969+10T>G	single nucleotide variant	Stormorken syndrome [RCV001405478]	Chr11:4074689 [GRCh38] Chr11:4095919 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1206G>A (p.Leu402=)	single nucleotide variant	Stormorken syndrome [RCV001218502]	Chr11:4082950 [GRCh38] Chr11:4104180 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2034G>A (p.Leu678=)	single nucleotide variant	Stormorken syndrome [RCV001222681]	Chr11:4091681 [GRCh38] Chr11:4112911 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly)	single nucleotide variant	Stormorken syndrome [RCV001036649]	Chr11:4083379 [GRCh38] Chr11:4104609 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys)	single nucleotide variant	Stormorken syndrome [RCV001224054]	Chr11:3967617 [GRCh38] Chr11:3988847 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly)	single nucleotide variant	Stormorken syndrome [RCV001070297]	Chr11:4083402 [GRCh38] Chr11:4104632 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del)	microsatellite	Stormorken syndrome [RCV001210095]\|not provided [RCV004774305]	Chr11:4070141..4070143 [GRCh38] Chr11:4091371..4091373 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys)	single nucleotide variant	Stormorken syndrome [RCV001212089]	Chr11:4074647 [GRCh38] Chr11:4095877 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.630C>T (p.His210=)	single nucleotide variant	Stormorken syndrome [RCV003768806]	Chr11:4070042 [GRCh38] Chr11:4091272 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.969+167T>C	single nucleotide variant	not provided [RCV001557012]	Chr11:4074846 [GRCh38] Chr11:4096076 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.767A>G (p.Gln256Arg)	single nucleotide variant	Stormorken syndrome [RCV001061761]\|Stormorken syndrome [RCV003333116]\|not provided [RCV000994554]	Chr11:4070179 [GRCh38] Chr11:4091409 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.-427C>T	single nucleotide variant	not provided [RCV001620162]	Chr11:3855844 [GRCh38] Chr11:3877074 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.251A>C (p.Asp84Ala)	single nucleotide variant	Stormorken syndrome [RCV003234948]	Chr11:3967663 [GRCh38] Chr11:3988893 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.1239-63G>A	single nucleotide variant	not provided [RCV001718528]\|not specified [RCV003487767]	Chr11:4083200 [GRCh38] Chr11:4104430 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.497+181T>A	single nucleotide variant	not provided [RCV001608818]	Chr11:4055818 [GRCh38] Chr11:4077048 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.969+193T>C	single nucleotide variant	not provided [RCV001619242]	Chr11:4074872 [GRCh38] Chr11:4096102 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.385+309T>G	single nucleotide variant	not provided [RCV001694345]	Chr11:4024296 [GRCh38] Chr11:4045526 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1635-2364C>T	single nucleotide variant	not provided [RCV001677637]	Chr11:4088918 [GRCh38] Chr11:4110148 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.*172A>G	single nucleotide variant	not provided [RCV001594368]	Chr11:4091970 [GRCh38] Chr11:4113200 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.-385TCTTC[3]	microsatellite	not provided [RCV001657066]	Chr11:3855884..3855888 [GRCh38] Chr11:3877114..3877118 [GRCh37] Chr11:11p15.4	benign
GRCh37/hg19 11p15.4(chr11:3667691-4039971)x3	copy number gain	not provided [RCV001006376]	Chr11:3667691..4039971 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-146A>C	single nucleotide variant	not provided [RCV001665818]	Chr11:4055380 [GRCh38] Chr11:4076610 [GRCh37] Chr11:11p15.4	benign
NC_000011.10:g.(?_3856251)_(4091818_?)dup	duplication	Stormorken syndrome [RCV001033373]	Chr11:3877481..4113048 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+79C>A	single nucleotide variant	not provided [RCV001644441]	Chr11:3967761 [GRCh38] Chr11:3988991 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1138-25T>C	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001810121]\|Myopathy, tubular aggregate, 1 [RCV001810122]\|Stormorken syndrome [RCV001810123]\|not provided [RCV001615694]\|not specified [RCV003487512]	Chr11:4082857 [GRCh38] Chr11:4104087 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1138-52A>C	single nucleotide variant	not provided [RCV001714349]\|not specified [RCV003487756]	Chr11:4082830 [GRCh38] Chr11:4104060 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.270+213G>C	single nucleotide variant	not provided [RCV001670711]	Chr11:3967895 [GRCh38] Chr11:3989125 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1239-138T>C	single nucleotide variant	not provided [RCV001666497]\|not specified [RCV003487633]	Chr11:4083125 [GRCh38] Chr11:4104355 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1138-105C>A	single nucleotide variant	not provided [RCV001612859]	Chr11:4082777 [GRCh38] Chr11:4104007 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp)	single nucleotide variant	Stormorken syndrome [RCV001214402]	Chr11:4091385 [GRCh38] Chr11:4112615 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr)	single nucleotide variant	Stormorken syndrome [RCV001217266]\|not provided [RCV003142162]	Chr11:4083463 [GRCh38] Chr11:4104693 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu)	single nucleotide variant	Stormorken syndrome [RCV001206395]	Chr11:4083395 [GRCh38] Chr11:4104625 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys)	single nucleotide variant	Stormorken syndrome [RCV001038882]	Chr11:4083276 [GRCh38] Chr11:4104506 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1687C>T (p.Arg563Cys)	single nucleotide variant	Stormorken syndrome [RCV001051033]	Chr11:4091334 [GRCh38] Chr11:4112564 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys)	single nucleotide variant	Stormorken syndrome [RCV001053840]	Chr11:4083417 [GRCh38] Chr11:4104647 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1429G>A (p.Val477Met)	single nucleotide variant	Stormorken syndrome [RCV001234030]	Chr11:4083453 [GRCh38] Chr11:4104683 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser)	single nucleotide variant	Stormorken syndrome [RCV001054010]	Chr11:3967651 [GRCh38] Chr11:3988881 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg)	indel	Stormorken syndrome [RCV001206123]	Chr11:4082293..4082294 [GRCh38] Chr11:4103523..4103524 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu)	single nucleotide variant	Stormorken syndrome [RCV001219289]	Chr11:4082924 [GRCh38] Chr11:4104154 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV002484286]\|STIM1-related disorder [RCV003414035]\|Stormorken syndrome [RCV001235138]	Chr11:4059388 [GRCh38] Chr11:4080618 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1632G>C (p.Gln544His)	single nucleotide variant	Stormorken syndrome [RCV001206906]	Chr11:4086541 [GRCh38] Chr11:4107771 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-3C>A	single nucleotide variant	Stormorken syndrome [RCV001038216]\|not provided [RCV004800665]	Chr11:4074499 [GRCh38] Chr11:4095729 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys)	single nucleotide variant	Stormorken syndrome [RCV001064278]\|not provided [RCV004768842]	Chr11:4083471 [GRCh38] Chr11:4104701 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.10:g.(?_4059271)_(4059406_?)del	deletion	Stormorken syndrome [RCV001033347]	Chr11:4080501..4080636 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1186G>A (p.Val396Met)	single nucleotide variant	Stormorken syndrome [RCV001202973]	Chr11:4082930 [GRCh38] Chr11:4104160 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.10:g.(?_3856251)_(3856429_?)dup	duplication	Stormorken syndrome [RCV001033517]	Chr11:3877481..3877659 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1598G>A (p.Arg533His)	single nucleotide variant	Inborn genetic diseases [RCV003243447]\|Stormorken syndrome [RCV001057085]	Chr11:4086507 [GRCh38] Chr11:4107737 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.860G>A (p.Arg287His)	single nucleotide variant	Stormorken syndrome [RCV001232869]	Chr11:4074570 [GRCh38] Chr11:4095800 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV002482077]\|Stormorken syndrome [RCV001063669]	Chr11:4086503 [GRCh38] Chr11:4107733 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3	copy number gain	See cases [RCV001263059]	Chr11:230615..4851537 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NC_000011.9:g.(?_3988762)_(4113048_?)dup	duplication	Stormorken syndrome [RCV001304609]	Chr11:3988762..4113048 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+272C>G	single nucleotide variant	STIM1-related disorder [RCV003960985]\|not provided [RCV002284636]	Chr11:4086815 [GRCh38] Chr11:4108045 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	copy number gain	Silver-Russell syndrome 1 [RCV001263222]	Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001281024]\|Stormorken syndrome [RCV002537911]	Chr11:4091673 [GRCh38] Chr11:4112903 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup	duplication	Early infantile epileptic encephalopathy with suppression bursts [RCV001316682]	Chr11:298501..4113028 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln)	single nucleotide variant	Inborn genetic diseases [RCV003365345]\|Myopathy, tubular aggregate, 1 [RCV002504536]\|Stormorken syndrome [RCV001342117]	Chr11:4055604 [GRCh38] Chr11:4076834 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala)	single nucleotide variant	Stormorken syndrome [RCV001305726]	Chr11:4091616 [GRCh38] Chr11:4112846 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.295C>T (p.His99Tyr)	single nucleotide variant	Stormorken syndrome [RCV001302205]	Chr11:4023897 [GRCh38] Chr11:4045127 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-7164T>A	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV001291812]	Chr11:4048362 [GRCh38] Chr11:4069592 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1031C>T (p.Pro344Leu)	single nucleotide variant	Stormorken syndrome [RCV001321036]	Chr11:4082245 [GRCh38] Chr11:4103475 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.803C>T (p.Ala268Val)	single nucleotide variant	Stormorken syndrome [RCV001348506]	Chr11:4074513 [GRCh38] Chr11:4095743 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1688G>C (p.Arg563Pro)	single nucleotide variant	Stormorken syndrome [RCV001315001]	Chr11:4091335 [GRCh38] Chr11:4112565 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.660C>A (p.Ile220=)	single nucleotide variant	Stormorken syndrome [RCV001309142]	Chr11:4070072 [GRCh38] Chr11:4091302 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.2102G>A (p.Gly701Asp)	single nucleotide variant	Stormorken syndrome [RCV001343783]	Chr11:4091749 [GRCh38] Chr11:4112979 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.400G>A (p.Val134Met)	single nucleotide variant	Inborn genetic diseases [RCV004671327]\|Stormorken syndrome [RCV001304164]\|not provided [RCV003227954]	Chr11:4055540 [GRCh38] Chr11:4076770 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His)	single nucleotide variant	Inborn genetic diseases [RCV002543674]\|Stormorken syndrome [RCV001315631]\|not provided [RCV003490183]	Chr11:4083418 [GRCh38] Chr11:4104648 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.975G>C (p.Arg325=)	single nucleotide variant	Stormorken syndrome [RCV001422154]	Chr11:4082189 [GRCh38] Chr11:4103419 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1656G>A (p.Ser552=)	single nucleotide variant	Stormorken syndrome [RCV001374008]	Chr11:4091303 [GRCh38] Chr11:4112533 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.490A>G (p.Met164Val)	single nucleotide variant	Stormorken syndrome [RCV001295249]	Chr11:4055630 [GRCh38] Chr11:4076860 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del)	microsatellite	Stormorken syndrome [RCV001307753]	Chr11:4091349..4091351 [GRCh38] Chr11:4112579..4112581 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala)	single nucleotide variant	Stormorken syndrome [RCV001307765]	Chr11:4091506 [GRCh38] Chr11:4112736 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro)	single nucleotide variant	Inborn genetic diseases [RCV002547526]\|Stormorken syndrome [RCV001351360]	Chr11:3856361 [GRCh38] Chr11:3877591 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+249T>G	single nucleotide variant	not provided [RCV001786687]	Chr11:4086792 [GRCh38] Chr11:4108022 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.513C>T (p.Asn171=)	single nucleotide variant	Stormorken syndrome [RCV001421592]	Chr11:4059296 [GRCh38] Chr11:4080526 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1230A>G (p.Leu410=)	single nucleotide variant	Stormorken syndrome [RCV001433598]	Chr11:4082974 [GRCh38] Chr11:4104204 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1134G>A (p.Glu378=)	single nucleotide variant	Stormorken syndrome [RCV001415324]	Chr11:4082348 [GRCh38] Chr11:4103578 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.859C>A (p.Arg287Ser)	single nucleotide variant	Stormorken syndrome [RCV001351576]	Chr11:4074569 [GRCh38] Chr11:4095799 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-4C>T	single nucleotide variant	Stormorken syndrome [RCV001422701]	Chr11:4074498 [GRCh38] Chr11:4095728 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr)	single nucleotide variant	Stormorken syndrome [RCV001368428]\|not provided [RCV001751727]	Chr11:4074506 [GRCh38] Chr11:4095736 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_4112492)_(4113048_?)dup	duplication	Stormorken syndrome [RCV001362772]	Chr11:4112492..4113048 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1591C>T (p.Arg531Trp)	single nucleotide variant	Stormorken syndrome [RCV001323960]	Chr11:4086500 [GRCh38] Chr11:4107730 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn)	single nucleotide variant	Inborn genetic diseases [RCV003169838]\|STIM1-related disorder [RCV003416268]\|Stormorken syndrome [RCV001364907]	Chr11:4091539 [GRCh38] Chr11:4112769 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln)	single nucleotide variant	Stormorken syndrome [RCV001371524]	Chr11:4091413 [GRCh38] Chr11:4112643 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp)	single nucleotide variant	Stormorken syndrome [RCV001871615]\|not provided [RCV001280694]	Chr11:4074581 [GRCh38] Chr11:4095811 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1798G>T (p.Val600Leu)	single nucleotide variant	Stormorken syndrome [RCV001360939]	Chr11:4091445 [GRCh38] Chr11:4112675 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.791+7C>T	single nucleotide variant	Stormorken syndrome [RCV001316733]	Chr11:4070210 [GRCh38] Chr11:4091440 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1616A>G (p.His539Arg)	single nucleotide variant	Stormorken syndrome [RCV001318929]	Chr11:4086525 [GRCh38] Chr11:4107755 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1063C>T (p.His355Tyr)	single nucleotide variant	Stormorken syndrome [RCV001342390]	Chr11:4082277 [GRCh38] Chr11:4103507 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2079C>T (p.Gly693=)	single nucleotide variant	Stormorken syndrome [RCV001374056]	Chr11:4091726 [GRCh38] Chr11:4112956 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.931C>T (p.Arg311Trp)	single nucleotide variant	Stormorken syndrome [RCV001300637]	Chr11:4074641 [GRCh38] Chr11:4095871 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn)	single nucleotide variant	Stormorken syndrome [RCV001323388]	Chr11:3856274 [GRCh38] Chr11:3877504 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.98G>C (p.Gly33Ala)	single nucleotide variant	not provided [RCV001356873]	Chr11:3856368 [GRCh38] Chr11:3877598 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys)	single nucleotide variant	Stormorken syndrome [RCV001296436]	Chr11:4091532 [GRCh38] Chr11:4112762 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-3C>G	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV003992502]\|Stormorken syndrome [RCV001341377]	Chr11:4074499 [GRCh38] Chr11:4095729 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003375241]\|Stormorken syndrome [RCV001347720]	Chr11:4091283 [GRCh38] Chr11:4112513 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val)	single nucleotide variant	Stormorken syndrome [RCV001368538]	Chr11:4091404 [GRCh38] Chr11:4112634 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.938G>A (p.Arg313His)	single nucleotide variant	Stormorken syndrome [RCV001363892]	Chr11:4074648 [GRCh38] Chr11:4095878 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1772T>C (p.Ile591Thr)	single nucleotide variant	Stormorken syndrome [RCV001366091]	Chr11:4091419 [GRCh38] Chr11:4112649 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp)	single nucleotide variant	Stormorken syndrome [RCV001366121]	Chr11:4091751 [GRCh38] Chr11:4112981 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu)	single nucleotide variant	Stormorken syndrome [RCV001314395]	Chr11:4091513 [GRCh38] Chr11:4112743 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3877481)_(4113048_?)dup	duplication	Stormorken syndrome [RCV001314000]	Chr11:3877481..4113048 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.562C>A (p.Gln188Lys)	single nucleotide variant	Stormorken syndrome [RCV001296350]	Chr11:4059345 [GRCh38] Chr11:4080575 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)	single nucleotide variant	Immunodeficiency, common variable, 10 [RCV003339603]\|Stormorken syndrome [RCV001338551]\|not provided [RCV003135998]	Chr11:3856292 [GRCh38] Chr11:3877522 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu)	single nucleotide variant	Stormorken syndrome [RCV001307107]	Chr11:4074563 [GRCh38] Chr11:4095793 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly)	single nucleotide variant	Stormorken syndrome [RCV001367368]	Chr11:4091422 [GRCh38] Chr11:4112652 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1773C>T (p.Ile591=)	single nucleotide variant	Stormorken syndrome [RCV001395380]	Chr11:4091420 [GRCh38] Chr11:4112650 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+60G>A	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001333075]	Chr11:4086603 [GRCh38] Chr11:4107833 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1676G>A (p.Ser559Asn)	single nucleotide variant	Stormorken syndrome [RCV001298608]	Chr11:4091323 [GRCh38] Chr11:4112553 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.840C>G (p.Val280=)	single nucleotide variant	Stormorken syndrome [RCV001396037]	Chr11:4074550 [GRCh38] Chr11:4095780 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1646A>C (p.His549Pro)	single nucleotide variant	Stormorken syndrome [RCV001339691]	Chr11:4091293 [GRCh38] Chr11:4112523 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.110G>C (p.Gly37Ala)	single nucleotide variant	Stormorken syndrome [RCV001299087]	Chr11:3856380 [GRCh38] Chr11:3877610 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1719T>A (p.Arg573=)	single nucleotide variant	Stormorken syndrome [RCV001492272]	Chr11:4091366 [GRCh38] Chr11:4112596 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.300C>T (p.Asp100=)	single nucleotide variant	Stormorken syndrome [RCV001473233]	Chr11:4023902 [GRCh38] Chr11:4045132 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1239-6C>T	single nucleotide variant	Stormorken syndrome [RCV001495505]	Chr11:4083257 [GRCh38] Chr11:4104487 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.675C>T (p.Gly225=)	single nucleotide variant	Stormorken syndrome [RCV001404732]	Chr11:4070087 [GRCh38] Chr11:4091317 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1246C>T (p.Leu416=)	single nucleotide variant	Stormorken syndrome [RCV001476171]	Chr11:4083270 [GRCh38] Chr11:4104500 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1239-4del	deletion	Stormorken syndrome [RCV001465749]	Chr11:4083258 [GRCh38] Chr11:4104488 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1599C>T (p.Arg533=)	single nucleotide variant	Stormorken syndrome [RCV001503364]	Chr11:4086508 [GRCh38] Chr11:4107738 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.717G>A (p.Glu239=)	single nucleotide variant	Stormorken syndrome [RCV001454456]	Chr11:4070129 [GRCh38] Chr11:4091359 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.744G>A (p.Leu248=)	single nucleotide variant	Stormorken syndrome [RCV001459201]	Chr11:4070156 [GRCh38] Chr11:4091386 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1974A>G (p.Pro658=)	single nucleotide variant	Stormorken syndrome [RCV001429164]	Chr11:4091621 [GRCh38] Chr11:4112851 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.385+7G>A	single nucleotide variant	Stormorken syndrome [RCV001491923]	Chr11:4023994 [GRCh38] Chr11:4045224 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.738G>A (p.Lys246=)	single nucleotide variant	STIM1-related disorder [RCV003953717]\|Stormorken syndrome [RCV001398450]	Chr11:4070150 [GRCh38] Chr11:4091380 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.519C>A (p.Thr173=)	single nucleotide variant	Stormorken syndrome [RCV001398626]	Chr11:4059302 [GRCh38] Chr11:4080532 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1635-102C>T	single nucleotide variant	not provided [RCV001643539]	Chr11:4091180 [GRCh38] Chr11:4112410 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.843T>C (p.His281=)	single nucleotide variant	Stormorken syndrome [RCV001435951]	Chr11:4074553 [GRCh38] Chr11:4095783 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.414A>G (p.Val138=)	single nucleotide variant	Stormorken syndrome [RCV001404485]	Chr11:4055554 [GRCh38] Chr11:4076784 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.774G>T (p.Leu258=)	single nucleotide variant	STIM1-related disorder [RCV003973246]\|Stormorken syndrome [RCV001409484]	Chr11:4070186 [GRCh38] Chr11:4091416 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.474G>A (p.Gln158=)	single nucleotide variant	Stormorken syndrome [RCV001441015]	Chr11:4055614 [GRCh38] Chr11:4076844 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-4G>A	single nucleotide variant	Stormorken syndrome [RCV001446763]	Chr11:4082878 [GRCh38] Chr11:4104108 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2100A>G (p.Pro700=)	single nucleotide variant	Stormorken syndrome [RCV001434525]	Chr11:4091747 [GRCh38] Chr11:4112977 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1347A>C (p.Ser449=)	single nucleotide variant	Stormorken syndrome [RCV001418890]	Chr11:4083371 [GRCh38] Chr11:4104601 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1728C>T (p.Asp576=)	single nucleotide variant	Stormorken syndrome [RCV001440356]	Chr11:4091375 [GRCh38] Chr11:4112605 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1932T>C (p.Ser644=)	single nucleotide variant	Stormorken syndrome [RCV001440485]	Chr11:4091579 [GRCh38] Chr11:4112809 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.982T>C (p.Leu328=)	single nucleotide variant	Stormorken syndrome [RCV001427166]	Chr11:4082196 [GRCh38] Chr11:4103426 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1238+128C>T	single nucleotide variant	not provided [RCV001614432]	Chr11:4083110 [GRCh38] Chr11:4104340 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.54C>T (p.His18=)	single nucleotide variant	Stormorken syndrome [RCV001473005]	Chr11:3856324 [GRCh38] Chr11:3877554 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1238+107A>C	single nucleotide variant	not provided [RCV001684352]	Chr11:4083089 [GRCh38] Chr11:4104319 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1623G>A (p.Leu541=)	single nucleotide variant	Stormorken syndrome [RCV001473845]	Chr11:4086532 [GRCh38] Chr11:4107762 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.285C>T (p.Asp95=)	single nucleotide variant	STIM1-related disorder [RCV004749693]\|Stormorken syndrome [RCV001457756]	Chr11:4023887 [GRCh38] Chr11:4045117 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1428C>T (p.Asp476=)	single nucleotide variant	Stormorken syndrome [RCV001506709]	Chr11:4083452 [GRCh38] Chr11:4104682 [GRCh37] Chr11:11p15.4	likely benign
NM_001382566.1(STIM1):c.-84+194dup	duplication	not provided [RCV001679905]	Chr11:3855608..3855609 [GRCh38] Chr11:3876838..3876839 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.270+314C>G	single nucleotide variant	not provided [RCV001684663]	Chr11:3967996 [GRCh38] Chr11:3989226 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.345C>T (p.Ile115=)	single nucleotide variant	Stormorken syndrome [RCV001476282]	Chr11:4023947 [GRCh38] Chr11:4045177 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+1877C>A	single nucleotide variant	not provided [RCV001691471]	Chr11:4088420 [GRCh38] Chr11:4109650 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1568-123T>C	single nucleotide variant	not provided [RCV001539123]	Chr11:4086354 [GRCh38] Chr11:4107584 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.271-3034G>C	single nucleotide variant	Stormorken syndrome [RCV001521889]	Chr11:4020839 [GRCh38] Chr11:4042069 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.385+250G>C	single nucleotide variant	not provided [RCV001691767]	Chr11:4024237 [GRCh38] Chr11:4045467 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1238+60A>G	single nucleotide variant	not provided [RCV001698821]	Chr11:4083042 [GRCh38] Chr11:4104272 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1568-7C>G	single nucleotide variant	Stormorken syndrome [RCV001460282]	Chr11:4086470 [GRCh38] Chr11:4107700 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.399C>T (p.Thr133=)	single nucleotide variant	Stormorken syndrome [RCV001478155]	Chr11:4055539 [GRCh38] Chr11:4076769 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.-607A>G	single nucleotide variant	not provided [RCV001714774]	Chr11:3855664 [GRCh38] Chr11:3876894 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1238+10A>C	single nucleotide variant	Stormorken syndrome [RCV001501396]	Chr11:4082992 [GRCh38] Chr11:4104222 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.909G>A (p.Leu303=)	single nucleotide variant	Stormorken syndrome [RCV001500274]	Chr11:4074619 [GRCh38] Chr11:4095849 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.192C>T (p.Ser64=)	single nucleotide variant	Stormorken syndrome [RCV001457318]	Chr11:3967604 [GRCh38] Chr11:3988834 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1935C>T (p.Ser645=)	single nucleotide variant	Stormorken syndrome [RCV001405100]	Chr11:4091582 [GRCh38] Chr11:4112812 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.792-9C>A	single nucleotide variant	Stormorken syndrome [RCV001499769]	Chr11:4074493 [GRCh38] Chr11:4095723 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1596G>T (p.Gln532His)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV003232558]	Chr11:4086505 [GRCh38] Chr11:4107735 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.692A>G (p.Tyr231Cys)	single nucleotide variant	not specified [RCV002248878]	Chr11:4070104 [GRCh38] Chr11:4091334 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.139+246A>C	single nucleotide variant	not provided [RCV001732389]	Chr11:3856655 [GRCh38] Chr11:3877885 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1828G>A (p.Ala610Thr)	single nucleotide variant	Stormorken syndrome [RCV002245458]	Chr11:4091475 [GRCh38] Chr11:4112705 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1137+116T>C	single nucleotide variant	not provided [RCV001756487]	Chr11:4082467 [GRCh38] Chr11:4103697 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.227A>G (p.Asp76Gly)	single nucleotide variant	not provided [RCV001771010]	Chr11:3967639 [GRCh38] Chr11:3988869 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1299C>G (p.Ile433Met)	single nucleotide variant	not provided [RCV001767387]	Chr11:4083323 [GRCh38] Chr11:4104553 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.541A>G (p.Met181Val)	single nucleotide variant	STIM1-related disorder [RCV003401703]\|Stormorken syndrome [RCV002540716]\|not provided [RCV003238565]	Chr11:4059324 [GRCh38] Chr11:4080554 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.13G>A (p.Val5Ile)	single nucleotide variant	Stormorken syndrome [RCV002544321]\|not provided [RCV001794735]	Chr11:3856283 [GRCh38] Chr11:3877513 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2124A>T (p.Lys708Asn)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV001809057]	Chr11:4091771 [GRCh38] Chr11:4113001 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1792T>A (p.Ser598Thr)	single nucleotide variant	not provided [RCV004801558]	Chr11:4091439 [GRCh38] Chr11:4112669 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.733A>C (p.Met245Leu)	single nucleotide variant	Stormorken syndrome [RCV001896034]	Chr11:4070145 [GRCh38] Chr11:4091375 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile)	single nucleotide variant	Stormorken syndrome [RCV001915181]	Chr11:4059298 [GRCh38] Chr11:4080528 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_4076736)_(4076887_?)del	deletion	Stormorken syndrome [RCV001949638]	Chr11:4076736..4076887 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.969+15A>T	single nucleotide variant	Stormorken syndrome [RCV001950427]	Chr11:4074694 [GRCh38] Chr11:4095924 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met)	single nucleotide variant	Stormorken syndrome [RCV001969391]	Chr11:4091646 [GRCh38] Chr11:4112876 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.974G>T (p.Arg325Leu)	single nucleotide variant	Stormorken syndrome [RCV002008358]	Chr11:4082188 [GRCh38] Chr11:4103418 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.704G>A (p.Arg235His)	single nucleotide variant	Stormorken syndrome [RCV001949887]	Chr11:4070116 [GRCh38] Chr11:4091346 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr)	single nucleotide variant	Stormorken syndrome [RCV001895553]	Chr11:4091484 [GRCh38] Chr11:4112714 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg)	single nucleotide variant	Inborn genetic diseases [RCV004671537]\|Stormorken syndrome [RCV001949753]	Chr11:3856332 [GRCh38] Chr11:3877562 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.952GAG[2] (p.Glu320del)	microsatellite	Stormorken syndrome [RCV001950493]	Chr11:4074662..4074664 [GRCh38] Chr11:4095892..4095894 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp)	single nucleotide variant	Stormorken syndrome [RCV002040183]	Chr11:3967650 [GRCh38] Chr11:3988880 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu)	single nucleotide variant	Stormorken syndrome [RCV001911506]	Chr11:4091659 [GRCh38] Chr11:4112889 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1069G>T (p.Val357Leu)	single nucleotide variant	Stormorken syndrome [RCV001912493]	Chr11:4082283 [GRCh38] Chr11:4103513 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1251C>T (p.Ser417=)	single nucleotide variant	Stormorken syndrome [RCV001968890]	Chr11:4083275 [GRCh38] Chr11:4104505 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del)	microsatellite	Stormorken syndrome [RCV001947581]	Chr11:4091778..4091780 [GRCh38] Chr11:4113008..4113010 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1615C>T (p.His539Tyr)	single nucleotide variant	Stormorken syndrome [RCV001949062]	Chr11:4086524 [GRCh38] Chr11:4107754 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2123A>G (p.Lys708Arg)	single nucleotide variant	Stormorken syndrome [RCV001926410]\|not provided [RCV004719201]	Chr11:4091770 [GRCh38] Chr11:4113000 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.262A>G (p.Ser88Gly)	single nucleotide variant	Stormorken syndrome [RCV001891483]\|Stormorken syndrome [RCV002287513]\|not provided [RCV004697156]	Chr11:3967674 [GRCh38] Chr11:3988904 [GRCh37] Chr11:11p15.4	pathogenic\|likely pathogenic\|uncertain significance
NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe)	single nucleotide variant	STIM1-related disorder [RCV004749757]\|Stormorken syndrome [RCV001872690]	Chr11:4070122 [GRCh38] Chr11:4091352 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys)	single nucleotide variant	Stormorken syndrome [RCV001909499]	Chr11:4082224 [GRCh38] Chr11:4103454 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3	copy number gain	not provided [RCV001825269]	Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4	not provided
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser)	single nucleotide variant	Stormorken syndrome [RCV001947392]	Chr11:4083420 [GRCh38] Chr11:4104650 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter)	single nucleotide variant	Stormorken syndrome [RCV002005388]\|not provided [RCV004784023]	Chr11:4091658 [GRCh38] Chr11:4112888 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg)	single nucleotide variant	Stormorken syndrome [RCV002005419]	Chr11:3856320 [GRCh38] Chr11:3877550 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3988762)_(4113028_?)del	deletion	Stormorken syndrome [RCV001878795]	Chr11:3988762..4113028 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys)	single nucleotide variant	Stormorken syndrome [RCV001920499]	Chr11:4091421 [GRCh38] Chr11:4112651 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.163_164del (p.Leu55fs)	deletion	Stormorken syndrome [RCV002037722]	Chr11:3967575..3967576 [GRCh38] Chr11:3988805..3988806 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1725A>G (p.Ala575=)	single nucleotide variant	Stormorken syndrome [RCV001956355]	Chr11:4091372 [GRCh38] Chr11:4112602 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.776A>G (p.His259Arg)	single nucleotide variant	Stormorken syndrome [RCV002001000]	Chr11:4070188 [GRCh38] Chr11:4091418 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala)	single nucleotide variant	Stormorken syndrome [RCV001952451]	Chr11:4023903 [GRCh38] Chr11:4045133 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr)	single nucleotide variant	Stormorken syndrome [RCV001976141]	Chr11:4091671 [GRCh38] Chr11:4112901 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1688G>A (p.Arg563His)	single nucleotide variant	Stormorken syndrome [RCV001996421]	Chr11:4091335 [GRCh38] Chr11:4112565 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu)	single nucleotide variant	Stormorken syndrome [RCV001932216]	Chr11:4091628 [GRCh38] Chr11:4112858 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn)	single nucleotide variant	Stormorken syndrome [RCV001920377]	Chr11:4082940 [GRCh38] Chr11:4104170 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1250G>A (p.Ser417Asn)	single nucleotide variant	Stormorken syndrome [RCV001995647]	Chr11:4083274 [GRCh38] Chr11:4104504 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser)	single nucleotide variant	Stormorken syndrome [RCV002032122]\|not specified [RCV003479392]	Chr11:3856328 [GRCh38] Chr11:3877558 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1371C>A (p.Asp457Glu)	single nucleotide variant	Stormorken syndrome [RCV001883112]	Chr11:4083395 [GRCh38] Chr11:4104625 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1793C>A (p.Ser598Tyr)	single nucleotide variant	Stormorken syndrome [RCV001921321]	Chr11:4091440 [GRCh38] Chr11:4112670 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr)	single nucleotide variant	Stormorken syndrome [RCV002029928]	Chr11:4091682 [GRCh38] Chr11:4112912 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1189del (p.Ala397fs)	deletion	Stormorken syndrome [RCV001956050]	Chr11:4082932 [GRCh38] Chr11:4104162 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe)	single nucleotide variant	Stormorken syndrome [RCV001864852]	Chr11:4091772 [GRCh38] Chr11:4113002 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.610C>T (p.Leu204Phe)	single nucleotide variant	Stormorken syndrome [RCV002030045]	Chr11:4059393 [GRCh38] Chr11:4080623 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.271-14C>G	single nucleotide variant	Stormorken syndrome [RCV001994174]	Chr11:4023859 [GRCh38] Chr11:4045089 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.429A>G (p.Thr143=)	single nucleotide variant	Stormorken syndrome [RCV002031777]	Chr11:4055569 [GRCh38] Chr11:4076799 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser)	single nucleotide variant	Stormorken syndrome [RCV001976291]	Chr11:3856386 [GRCh38] Chr11:3877616 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3832490)_(4113028_?)dup	duplication	Stormorken syndrome [RCV001940165]	Chr11:3832490..4113028 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.622C>T (p.His208Tyr)	single nucleotide variant	Stormorken syndrome [RCV001870520]	Chr11:4070034 [GRCh38] Chr11:4091264 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile)	single nucleotide variant	Stormorken syndrome [RCV001939763]	Chr11:3856371 [GRCh38] Chr11:3877601 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys)	single nucleotide variant	Stormorken syndrome [RCV002049539]	Chr11:3856394 [GRCh38] Chr11:3877624 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3877501)_(4113028_?)dup	duplication	Stormorken syndrome [RCV001877762]	Chr11:3877501..4113028 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.863A>C (p.Asp288Ala)	single nucleotide variant	Stormorken syndrome [RCV001974561]	Chr11:4074573 [GRCh38] Chr11:4095803 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.626A>G (p.Asn209Ser)	single nucleotide variant	Stormorken syndrome [RCV001937502]	Chr11:4070038 [GRCh38] Chr11:4091268 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1612C>G (p.Gln538Glu)	single nucleotide variant	Stormorken syndrome [RCV002019184]	Chr11:4086521 [GRCh38] Chr11:4107751 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1270C>T (p.Arg424Trp)	single nucleotide variant	Stormorken syndrome [RCV002015883]	Chr11:4083294 [GRCh38] Chr11:4104524 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp)	single nucleotide variant	Stormorken syndrome [RCV002026533]	Chr11:4055603 [GRCh38] Chr11:4076833 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro)	single nucleotide variant	Stormorken syndrome [RCV001998069]	Chr11:3856397 [GRCh38] Chr11:3877627 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.733A>G (p.Met245Val)	single nucleotide variant	Stormorken syndrome [RCV002050453]	Chr11:4070145 [GRCh38] Chr11:4091375 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr)	single nucleotide variant	Inborn genetic diseases [RCV002571350]\|Stormorken syndrome [RCV001977447]	Chr11:4074582 [GRCh38] Chr11:4095812 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1457C>T (p.Ser486Phe)	single nucleotide variant	Stormorken syndrome [RCV002017765]	Chr11:4083481 [GRCh38] Chr11:4104711 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys)	single nucleotide variant	Stormorken syndrome [RCV001885700]	Chr11:4091740 [GRCh38] Chr11:4112970 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.551G>A (p.Arg184Gln)	single nucleotide variant	Stormorken syndrome [RCV001884309]	Chr11:4059334 [GRCh38] Chr11:4080564 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.722T>C (p.Met241Thr)	single nucleotide variant	Stormorken syndrome [RCV001884775]	Chr11:4070134 [GRCh38] Chr11:4091364 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3877491)_(3877649_?)dup	duplication	Stormorken syndrome [RCV001981278]	Chr11:3877491..3877649 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1943A>T (p.His648Leu)	single nucleotide variant	Stormorken syndrome [RCV001961489]	Chr11:4091590 [GRCh38] Chr11:4112820 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.614T>C (p.Leu205Ser)	single nucleotide variant	Stormorken syndrome [RCV001980426]	Chr11:4070026 [GRCh38] Chr11:4091256 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala)	single nucleotide variant	Stormorken syndrome [RCV001982222]	Chr11:4091664 [GRCh38] Chr11:4112894 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.482G>A (p.Gly161Asp)	single nucleotide variant	Stormorken syndrome [RCV002035160]	Chr11:4055622 [GRCh38] Chr11:4076852 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-1G>A	single nucleotide variant	Stormorken syndrome [RCV001998195]	Chr11:4055525 [GRCh38] Chr11:4076755 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.798C>A (p.His266Gln)	single nucleotide variant	Stormorken syndrome [RCV001880979]	Chr11:4074508 [GRCh38] Chr11:4095738 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg)	single nucleotide variant	Stormorken syndrome [RCV001973349]	Chr11:4091556 [GRCh38] Chr11:4112786 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val)	single nucleotide variant	Stormorken syndrome [RCV001902217]	Chr11:4023985 [GRCh38] Chr11:4045215 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1239-10C>T	single nucleotide variant	Stormorken syndrome [RCV002128027]	Chr11:4083253 [GRCh38] Chr11:4104483 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1317C>T (p.Phe439=)	single nucleotide variant	Stormorken syndrome [RCV002108345]	Chr11:4083341 [GRCh38] Chr11:4104571 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1203C>G (p.Ser401=)	single nucleotide variant	Stormorken syndrome [RCV002108260]	Chr11:4082947 [GRCh38] Chr11:4104177 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1635-15C>T	single nucleotide variant	Stormorken syndrome [RCV002108604]	Chr11:4091267 [GRCh38] Chr11:4112497 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1003C>T (p.Leu335=)	single nucleotide variant	Stormorken syndrome [RCV002187485]	Chr11:4082217 [GRCh38] Chr11:4103447 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.792-4C>G	single nucleotide variant	STIM1-related disorder [RCV003895783]\|Stormorken syndrome [RCV002107902]	Chr11:4074498 [GRCh38] Chr11:4095728 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.497+17G>A	single nucleotide variant	Stormorken syndrome [RCV002087737]	Chr11:4055654 [GRCh38] Chr11:4076884 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1221T>C (p.His407=)	single nucleotide variant	Stormorken syndrome [RCV002191809]	Chr11:4082965 [GRCh38] Chr11:4104195 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1071G>A (p.Val357=)	single nucleotide variant	Stormorken syndrome [RCV002146203]	Chr11:4082285 [GRCh38] Chr11:4103515 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2142T>C (p.Leu714=)	single nucleotide variant	Stormorken syndrome [RCV002111826]	Chr11:4091789 [GRCh38] Chr11:4113019 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.970-15C>G	single nucleotide variant	Stormorken syndrome [RCV002167801]	Chr11:4082169 [GRCh38] Chr11:4103399 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.613+11T>A	single nucleotide variant	Stormorken syndrome [RCV002128260]	Chr11:4059407 [GRCh38] Chr11:4080637 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-16G>A	single nucleotide variant	Stormorken syndrome [RCV002112995]	Chr11:4082866 [GRCh38] Chr11:4104096 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.970-16C>A	single nucleotide variant	Stormorken syndrome [RCV002096316]	Chr11:4082168 [GRCh38] Chr11:4103398 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1272G>A (p.Arg424=)	single nucleotide variant	Stormorken syndrome [RCV002193312]	Chr11:4083296 [GRCh38] Chr11:4104526 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.108G>C (p.Ser36=)	single nucleotide variant	Stormorken syndrome [RCV002193444]	Chr11:3856378 [GRCh38] Chr11:3877608 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1737C>A (p.Leu579=)	single nucleotide variant	Stormorken syndrome [RCV002194768]	Chr11:4091384 [GRCh38] Chr11:4112614 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.270+13A>G	single nucleotide variant	Stormorken syndrome [RCV002096585]	Chr11:3967695 [GRCh38] Chr11:3988925 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-15del	deletion	Stormorken syndrome [RCV002170640]	Chr11:4082863 [GRCh38] Chr11:4104093 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1461C>T (p.Pro487=)	single nucleotide variant	Stormorken syndrome [RCV002172371]\|not provided [RCV003389892]	Chr11:4083485 [GRCh38] Chr11:4104715 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.385+16G>A	single nucleotide variant	Stormorken syndrome [RCV002116225]	Chr11:4024003 [GRCh38] Chr11:4045233 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1893C>T (p.Ser631=)	single nucleotide variant	Stormorken syndrome [RCV002173003]	Chr11:4091540 [GRCh38] Chr11:4112770 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.516C>G (p.Thr172=)	single nucleotide variant	Stormorken syndrome [RCV002190164]\|not provided [RCV004598177]	Chr11:4059299 [GRCh38] Chr11:4080529 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1239-17C>G	single nucleotide variant	Stormorken syndrome [RCV002111362]	Chr11:4083246 [GRCh38] Chr11:4104476 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.546A>C (p.Thr182=)	single nucleotide variant	Stormorken syndrome [RCV002114093]	Chr11:4059329 [GRCh38] Chr11:4080559 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1722T>C (p.Ala574=)	single nucleotide variant	Stormorken syndrome [RCV002153047]	Chr11:4091369 [GRCh38] Chr11:4112599 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.140-15G>C	single nucleotide variant	Stormorken syndrome [RCV002193225]	Chr11:3967537 [GRCh38] Chr11:3988767 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.139+13T>A	single nucleotide variant	Stormorken syndrome [RCV002215607]	Chr11:3856422 [GRCh38] Chr11:3877652 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.108G>A (p.Ser36=)	single nucleotide variant	Stormorken syndrome [RCV002171521]	Chr11:3856378 [GRCh38] Chr11:3877608 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.139+7C>A	single nucleotide variant	Stormorken syndrome [RCV002174659]	Chr11:3856416 [GRCh38] Chr11:3877646 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1089C>T (p.Asn363=)	single nucleotide variant	Stormorken syndrome [RCV002153933]	Chr11:4082303 [GRCh38] Chr11:4103533 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.139+161A>C	single nucleotide variant	not provided [RCV002244385]	Chr11:3856570 [GRCh38] Chr11:3877800 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1568-12T>C	single nucleotide variant	Stormorken syndrome [RCV002177689]	Chr11:4086465 [GRCh38] Chr11:4107695 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1137+13C>T	single nucleotide variant	Stormorken syndrome [RCV002140292]	Chr11:4082364 [GRCh38] Chr11:4103594 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.385+20T>G	single nucleotide variant	Stormorken syndrome [RCV002142665]	Chr11:4024007 [GRCh38] Chr11:4045237 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.969+16A>G	single nucleotide variant	Stormorken syndrome [RCV002144508]	Chr11:4074695 [GRCh38] Chr11:4095925 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.408G>A (p.Glu136=)	single nucleotide variant	Stormorken syndrome [RCV002100139]	Chr11:4055548 [GRCh38] Chr11:4076778 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.531T>A (p.Thr177=)	single nucleotide variant	STIM1-related disorder [RCV003971123]\|Stormorken syndrome [RCV002163659]	Chr11:4059314 [GRCh38] Chr11:4080544 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1812T>C (p.Pro604=)	single nucleotide variant	Stormorken syndrome [RCV002163786]	Chr11:4091459 [GRCh38] Chr11:4112689 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1135G>C (p.Gly379Arg)	single nucleotide variant	Stormorken syndrome [RCV002245445]\|Stormorken syndrome [RCV003774699]	Chr11:4082349 [GRCh38] Chr11:4103579 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1239-20T>A	single nucleotide variant	Stormorken syndrome [RCV002136428]	Chr11:4083243 [GRCh38] Chr11:4104473 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His)	single nucleotide variant	Stormorken syndrome [RCV002254235]\|Stormorken syndrome [RCV003774757]	Chr11:4083320 [GRCh38] Chr11:4104550 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.69C>T (p.Leu23=)	single nucleotide variant	Stormorken syndrome [RCV002097785]	Chr11:3856339 [GRCh38] Chr11:3877569 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.271-19G>A	single nucleotide variant	Stormorken syndrome [RCV002161704]	Chr11:4023854 [GRCh38] Chr11:4045084 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1474+16dup	duplication	Stormorken syndrome [RCV002123782]	Chr11:4083513..4083514 [GRCh38] Chr11:4104743..4104744 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-11C>T	single nucleotide variant	Stormorken syndrome [RCV002121424]\|not specified [RCV003331316]	Chr11:4082871 [GRCh38] Chr11:4104101 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.921T>C (p.Thr307=)	single nucleotide variant	Stormorken syndrome [RCV002218830]	Chr11:4074631 [GRCh38] Chr11:4095861 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.614-4G>T	single nucleotide variant	Stormorken syndrome [RCV002179768]	Chr11:4070022 [GRCh38] Chr11:4091252 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.139+16G>A	single nucleotide variant	Stormorken syndrome [RCV002219445]	Chr11:3856425 [GRCh38] Chr11:3877655 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1653T>C (p.Asp551=)	single nucleotide variant	Stormorken syndrome [RCV002157124]	Chr11:4091300 [GRCh38] Chr11:4112530 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.660C>T (p.Ile220=)	single nucleotide variant	Stormorken syndrome [RCV002204454]	Chr11:4070072 [GRCh38] Chr11:4091302 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1779G>A (p.Gly593=)	single nucleotide variant	STIM1-related disorder [RCV003919011]\|Stormorken syndrome [RCV003118205]	Chr11:4091426 [GRCh38] Chr11:4112656 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)	single nucleotide variant	Stormorken syndrome [RCV003118177]	Chr11:4091578 [GRCh38] Chr11:4112808 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.339G>A (p.Lys113=)	single nucleotide variant	Stormorken syndrome [RCV003112763]	Chr11:4023941 [GRCh38] Chr11:4045171 [GRCh37] Chr11:11p15.4	likely benign
NC_000011.9:g.(?_4045083)_(4045237_?)dup	duplication	Stormorken syndrome [RCV003113218]	Chr11:4045083..4045237 [GRCh37] Chr11:11p15.4	likely pathogenic
NC_000011.9:g.(?_4112492)_(4113028_?)dup	duplication	Stormorken syndrome [RCV003113219]	Chr11:4112492..4113028 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup	duplication	not provided [RCV003113442]	Chr11:721044..3988932 [GRCh37] Chr11:11p15.5-15.4	uncertain significance
NM_001382567.1(STIM1):c.1403del (p.Pro468fs)	deletion	Myopathy, tubular aggregate, 1 [RCV002226987]	Chr11:4083425 [GRCh38] Chr11:4104655 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_003156.4(STIM1):c.1541+504T>C	single nucleotide variant	not provided [RCV002255226]	Chr11:4087047 [GRCh38] Chr11:4108277 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln)	single nucleotide variant	Inborn genetic diseases [RCV004681472]\|Stormorken syndrome [RCV003774872]\|not provided [RCV002273648]	Chr11:4083434 [GRCh38] Chr11:4104664 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)	single nucleotide variant	Stormorken syndrome [RCV002297098]	Chr11:4082957 [GRCh38] Chr11:4104187 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.791+75C>G	single nucleotide variant	not provided [RCV002285566]	Chr11:4070278 [GRCh38] Chr11:4091508 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.563A>G (p.Gln188Arg)	single nucleotide variant	Stormorken syndrome [RCV002280957]	Chr11:4059346 [GRCh38] Chr11:4080576 [GRCh37] Chr11:11p15.4	likely pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	deletion	Thalassemia, gamma-delta-beta [RCV000015529]	Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4	pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	copy number gain	See cases [RCV002286351]	Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2	pathogenic
NM_001382567.1(STIM1):c.1271G>A (p.Arg424Gln)	single nucleotide variant	Stormorken syndrome [RCV002297644]	Chr11:4083295 [GRCh38] Chr11:4104525 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)	single nucleotide variant	Stormorken syndrome [RCV002302900]	Chr11:4091716 [GRCh38] Chr11:4112946 [GRCh37] Chr11:11p15.4	uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3	copy number gain	not provided [RCV002472435]	Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)	single nucleotide variant	Stormorken syndrome [RCV002303985]	Chr11:4091594 [GRCh38] Chr11:4112824 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)	single nucleotide variant	Stormorken syndrome [RCV002299834]	Chr11:3856290 [GRCh38] Chr11:3877520 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.313C>A (p.His105Asn)	single nucleotide variant	Stormorken syndrome [RCV002299990]	Chr11:4023915 [GRCh38] Chr11:4045145 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)	indel	Stormorken syndrome [RCV002296530]	Chr11:4091465..4091466 [GRCh38] Chr11:4112695..4112696 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)	single nucleotide variant	Stormorken syndrome [RCV002295612]	Chr11:4091409 [GRCh38] Chr11:4112639 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)	single nucleotide variant	Stormorken syndrome [RCV002302867]	Chr11:3856368 [GRCh38] Chr11:3877598 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.385+7G>T	single nucleotide variant	Stormorken syndrome [RCV002903583]	Chr11:4023994 [GRCh38] Chr11:4045224 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)	single nucleotide variant	Stormorken syndrome [RCV002904833]	Chr11:4091710 [GRCh38] Chr11:4112940 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1650C>T (p.Ser550=)	single nucleotide variant	Stormorken syndrome [RCV003099064]	Chr11:4091297 [GRCh38] Chr11:4112527 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.313C>G (p.His105Asp)	single nucleotide variant	Stormorken syndrome [RCV002756608]	Chr11:4023915 [GRCh38] Chr11:4045145 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)	single nucleotide variant	Inborn genetic diseases [RCV004070296]\|Myopathy, tubular aggregate, 1 [RCV003340604]\|Stormorken syndrome [RCV003076600]	Chr11:4070073 [GRCh38] Chr11:4091303 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1609C>T (p.Pro537Ser)	single nucleotide variant	Stormorken syndrome [RCV003075864]	Chr11:4086518 [GRCh38] Chr11:4107748 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.15C>T (p.Val5=)	single nucleotide variant	Stormorken syndrome [RCV002730618]	Chr11:3856285 [GRCh38] Chr11:3877515 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.129C>T (p.Ser43=)	single nucleotide variant	Stormorken syndrome [RCV003011992]	Chr11:3856399 [GRCh38] Chr11:3877629 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.792-1G>A	single nucleotide variant	Stormorken syndrome [RCV003013497]	Chr11:4074501 [GRCh38] Chr11:4095731 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.1899A>G (p.Ser633=)	single nucleotide variant	Stormorken syndrome [RCV002971454]	Chr11:4091546 [GRCh38] Chr11:4112776 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-14C>A	single nucleotide variant	Stormorken syndrome [RCV002816641]	Chr11:4082868 [GRCh38] Chr11:4104098 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.703C>G (p.Arg235Gly)	single nucleotide variant	Stormorken syndrome [RCV002771492]	Chr11:4070115 [GRCh38] Chr11:4091345 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)	microsatellite	Stormorken syndrome [RCV002615413]	Chr11:4091703..4091705 [GRCh38] Chr11:4112933..4112935 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT	indel	Stormorken syndrome [RCV003074647]	Chr11:4083515..4083516 [GRCh38] Chr11:4104745..4104746 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1780G>T (p.Val594Phe)	single nucleotide variant	not provided [RCV002462627]	Chr11:4091427 [GRCh38] Chr11:4112657 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.969+7G>T	single nucleotide variant	Stormorken syndrome [RCV003034677]	Chr11:4074686 [GRCh38] Chr11:4095916 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138G>A (p.Ala380Thr)	single nucleotide variant	Stormorken syndrome [RCV002871373]	Chr11:4082882 [GRCh38] Chr11:4104112 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.718C>T (p.His240Tyr)	single nucleotide variant	Stormorken syndrome [RCV003038881]	Chr11:4070130 [GRCh38] Chr11:4091360 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1715G>A (p.Ser572Asn)	single nucleotide variant	Stormorken syndrome [RCV002592333]	Chr11:4091362 [GRCh38] Chr11:4112592 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1239-8G>A	single nucleotide variant	Stormorken syndrome [RCV003055335]	Chr11:4083255 [GRCh38] Chr11:4104485 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.969+9G>A	single nucleotide variant	Stormorken syndrome [RCV003036687]	Chr11:4074688 [GRCh38] Chr11:4095918 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1628C>T (p.Ser543Phe)	single nucleotide variant	Stormorken syndrome [RCV002637787]	Chr11:4086537 [GRCh38] Chr11:4107767 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)	single nucleotide variant	Inborn genetic diseases [RCV003100220]\|Stormorken syndrome [RCV003100221]	Chr11:3856404 [GRCh38] Chr11:3877634 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.642C>G (p.Phe214Leu)	single nucleotide variant	Stormorken syndrome [RCV002886272]	Chr11:4070054 [GRCh38] Chr11:4091284 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)	single nucleotide variant	Stormorken syndrome [RCV003019862]	Chr11:4055549 [GRCh38] Chr11:4076779 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)	single nucleotide variant	Inborn genetic diseases [RCV004067139]\|Stormorken syndrome [RCV002923332]\|not provided [RCV003170617]	Chr11:4091465 [GRCh38] Chr11:4112695 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)	single nucleotide variant	Inborn genetic diseases [RCV002737058]\|Stormorken syndrome [RCV003777694]\|not specified [RCV004783032]	Chr11:4074642 [GRCh38] Chr11:4095872 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.388T>C (p.Tyr130His)	single nucleotide variant	Stormorken syndrome [RCV002618961]	Chr11:4055528 [GRCh38] Chr11:4076758 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1635-20C>G	single nucleotide variant	Stormorken syndrome [RCV002867305]	Chr11:4091262 [GRCh38] Chr11:4112492 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.974G>A (p.Arg325Gln)	single nucleotide variant	Stormorken syndrome [RCV002909360]	Chr11:4082188 [GRCh38] Chr11:4103418 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2049T>C (p.Ala683=)	single nucleotide variant	Stormorken syndrome [RCV003081219]	Chr11:4091696 [GRCh38] Chr11:4112926 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.750G>T (p.Gly250=)	single nucleotide variant	Stormorken syndrome [RCV003077506]	Chr11:4070162 [GRCh38] Chr11:4091392 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1148T>C (p.Ile383Thr)	single nucleotide variant	Stormorken syndrome [RCV002909856]	Chr11:4082892 [GRCh38] Chr11:4104122 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.317G>A (p.Ser106Asn)	single nucleotide variant	Stormorken syndrome [RCV002637870]	Chr11:4023919 [GRCh38] Chr11:4045149 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1474+20G>A	single nucleotide variant	Stormorken syndrome [RCV002979840]	Chr11:4083518 [GRCh38] Chr11:4104748 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.140-16T>G	single nucleotide variant	Stormorken syndrome [RCV003080506]	Chr11:3967536 [GRCh38] Chr11:3988766 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)	single nucleotide variant	Stormorken syndrome [RCV003038493]	Chr11:4070176 [GRCh38] Chr11:4091406 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)	single nucleotide variant	Stormorken syndrome [RCV003002525]	Chr11:4091722 [GRCh38] Chr11:4112952 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2149T>C (p.Ter717Gln)	single nucleotide variant	Stormorken syndrome [RCV002780545]	Chr11:4091796 [GRCh38] Chr11:4113026 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-3C>T	single nucleotide variant	Stormorken syndrome [RCV002620913]	Chr11:4074499 [GRCh38] Chr11:4095729 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+5G>T	single nucleotide variant	Stormorken syndrome [RCV002571002]	Chr11:3967687 [GRCh38] Chr11:3988917 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.498-18T>A	single nucleotide variant	Stormorken syndrome [RCV002590516]	Chr11:4059263 [GRCh38] Chr11:4080493 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.271-19G>C	single nucleotide variant	Stormorken syndrome [RCV002870969]	Chr11:4023854 [GRCh38] Chr11:4045084 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)	single nucleotide variant	Stormorken syndrome [RCV002640014]	Chr11:4091391 [GRCh38] Chr11:4112621 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)	single nucleotide variant	Stormorken syndrome [RCV003039943]	Chr11:4023874 [GRCh38] Chr11:4045104 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2143AAG[1] (p.Lys716del)	microsatellite	Stormorken syndrome [RCV002805377]	Chr11:4091790..4091792 [GRCh38] Chr11:4113020..4113022 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)	single nucleotide variant	Stormorken syndrome [RCV002875724]	Chr11:4059281 [GRCh38] Chr11:4080511 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.699G>A (p.Gln233=)	single nucleotide variant	Stormorken syndrome [RCV002890860]	Chr11:4070111 [GRCh38] Chr11:4091341 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)	single nucleotide variant	Inborn genetic diseases [RCV002573143]\|Stormorken syndrome [RCV002586717]	Chr11:4070158 [GRCh38] Chr11:4091388 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1809G>A (p.Leu603=)	single nucleotide variant	Stormorken syndrome [RCV002933438]	Chr11:4091456 [GRCh38] Chr11:4112686 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.381A>G (p.Ser127=)	single nucleotide variant	Stormorken syndrome [RCV002766576]	Chr11:4023983 [GRCh38] Chr11:4045213 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.270+11C>T	single nucleotide variant	Stormorken syndrome [RCV003057606]	Chr11:3967693 [GRCh38] Chr11:3988923 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.970-19C>T	single nucleotide variant	Stormorken syndrome [RCV002982913]	Chr11:4082165 [GRCh38] Chr11:4103395 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1119G>T (p.Leu373=)	single nucleotide variant	Stormorken syndrome [RCV003006127]	Chr11:4082333 [GRCh38] Chr11:4103563 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1581G>A (p.Gln527=)	single nucleotide variant	Stormorken syndrome [RCV003003375]	Chr11:4086490 [GRCh38] Chr11:4107720 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.693T>C (p.Tyr231=)	single nucleotide variant	Stormorken syndrome [RCV003084445]	Chr11:4070105 [GRCh38] Chr11:4091335 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.970G>A (p.Val324Ile)	single nucleotide variant	Stormorken syndrome [RCV002929067]\|not provided [RCV003395544]	Chr11:4082184 [GRCh38] Chr11:4103414 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)	single nucleotide variant	Stormorken syndrome [RCV002624755]	Chr11:4091617 [GRCh38] Chr11:4112847 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1999C>T (p.Leu667=)	single nucleotide variant	Stormorken syndrome [RCV003043444]	Chr11:4091646 [GRCh38] Chr11:4112876 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.614-11CT[2]	microsatellite	Stormorken syndrome [RCV002700973]	Chr11:4070015..4070016 [GRCh38] Chr11:4091245..4091246 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.614-20T>C	single nucleotide variant	Stormorken syndrome [RCV002918575]	Chr11:4070006 [GRCh38] Chr11:4091236 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1568-1G>T	single nucleotide variant	Stormorken syndrome [RCV003005802]	Chr11:4086476 [GRCh38] Chr11:4107706 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.2064T>C (p.Asp688=)	single nucleotide variant	Stormorken syndrome [RCV003085016]	Chr11:4091711 [GRCh38] Chr11:4112941 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1714A>G (p.Ser572Gly)	single nucleotide variant	Stormorken syndrome [RCV002985388]	Chr11:4091361 [GRCh38] Chr11:4112591 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1697C>G (p.Pro566Arg)	single nucleotide variant	Inborn genetic diseases [RCV002804570]	Chr11:4091344 [GRCh38] Chr11:4112574 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+2T>C	single nucleotide variant	Stormorken syndrome [RCV002857341]	Chr11:3967684 [GRCh38] Chr11:3988914 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.333G>A (p.Glu111=)	single nucleotide variant	Stormorken syndrome [RCV002941976]	Chr11:4023935 [GRCh38] Chr11:4045165 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.692A>T (p.Tyr231Phe)	single nucleotide variant	Stormorken syndrome [RCV002966827]	Chr11:4070104 [GRCh38] Chr11:4091334 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.791+15T>G	single nucleotide variant	Stormorken syndrome [RCV002630678]	Chr11:4070218 [GRCh38] Chr11:4091448 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1036G>A (p.Ala346Thr)	single nucleotide variant	Stormorken syndrome [RCV002934064]	Chr11:4082250 [GRCh38] Chr11:4103480 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)	single nucleotide variant	Stormorken syndrome [RCV002629703]	Chr11:4091712 [GRCh38] Chr11:4112942 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1474+17del	deletion	Stormorken syndrome [RCV003028582]	Chr11:4083515 [GRCh38] Chr11:4104745 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+13C>A	single nucleotide variant	Stormorken syndrome [RCV002810456]\|not provided [RCV003395521]	Chr11:4086556 [GRCh38] Chr11:4107786 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.498-15T>C	single nucleotide variant	Stormorken syndrome [RCV002899426]	Chr11:4059266 [GRCh38] Chr11:4080496 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1613A>G (p.Gln538Arg)	single nucleotide variant	Stormorken syndrome [RCV002628888]	Chr11:4086522 [GRCh38] Chr11:4107752 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)	single nucleotide variant	Stormorken syndrome [RCV003087429]	Chr11:4059313 [GRCh38] Chr11:4080543 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-18G>T	single nucleotide variant	Stormorken syndrome [RCV003045373]	Chr11:4055508 [GRCh38] Chr11:4076738 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)	single nucleotide variant	Inborn genetic diseases [RCV003167947]\|Stormorken syndrome [RCV002937433]	Chr11:4074629 [GRCh38] Chr11:4095859 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1474+7G>A	single nucleotide variant	Stormorken syndrome [RCV002834141]	Chr11:4083505 [GRCh38] Chr11:4104735 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.438G>A (p.Glu146=)	single nucleotide variant	Stormorken syndrome [RCV003044824]	Chr11:4055578 [GRCh38] Chr11:4076808 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1063C>G (p.His355Asp)	single nucleotide variant	Stormorken syndrome [RCV002966310]	Chr11:4082277 [GRCh38] Chr11:4103507 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.970-6G>T	single nucleotide variant	Stormorken syndrome [RCV003048466]	Chr11:4082178 [GRCh38] Chr11:4103408 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1827G>C (p.Leu609=)	single nucleotide variant	Stormorken syndrome [RCV002834890]	Chr11:4091474 [GRCh38] Chr11:4112704 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.485A>G (p.His162Arg)	single nucleotide variant	Stormorken syndrome [RCV003031090]	Chr11:4055625 [GRCh38] Chr11:4076855 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)	single nucleotide variant	Inborn genetic diseases [RCV003170723]\|Stormorken syndrome [RCV002966551]\|not specified [RCV004690339]	Chr11:3856362 [GRCh38] Chr11:3877592 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1300G>A (p.Glu434Lys)	single nucleotide variant	Stormorken syndrome [RCV002746027]	Chr11:4083324 [GRCh38] Chr11:4104554 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1583G>A (p.Ser528Asn)	single nucleotide variant	Stormorken syndrome [RCV002653557]	Chr11:4086492 [GRCh38] Chr11:4107722 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)	single nucleotide variant	Stormorken syndrome [RCV003066689]	Chr11:4091364 [GRCh38] Chr11:4112594 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)	single nucleotide variant	Stormorken syndrome [RCV002609212]	Chr11:4023951 [GRCh38] Chr11:4045181 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.195C>T (p.Phe65=)	single nucleotide variant	Stormorken syndrome [RCV002942960]	Chr11:3967607 [GRCh38] Chr11:3988837 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)	single nucleotide variant	Stormorken syndrome [RCV002653254]	Chr11:4091715 [GRCh38] Chr11:4112945 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.386-17C>G	single nucleotide variant	Stormorken syndrome [RCV002583934]	Chr11:4055509 [GRCh38] Chr11:4076739 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)	single nucleotide variant	Inborn genetic diseases [RCV004068965]\|Stormorken syndrome [RCV002610784]	Chr11:4083460 [GRCh38] Chr11:4104690 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.802G>C (p.Ala268Pro)	single nucleotide variant	not provided [RCV004779841]	Chr11:4074512 [GRCh38] Chr11:4095742 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.29G>T (p.Trp10Leu)	single nucleotide variant	Inborn genetic diseases [RCV003210426]	Chr11:3856299 [GRCh38] Chr11:3877529 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1738A>C (p.Asn580His)	single nucleotide variant	Inborn genetic diseases [RCV003206202]	Chr11:4091385 [GRCh38] Chr11:4112615 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2086A>G (p.Thr696Ala)	single nucleotide variant	not provided [RCV003325111]	Chr11:4091733 [GRCh38] Chr11:4112963 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+23215T>C	single nucleotide variant	not provided [RCV003322180]	Chr11:3990897 [GRCh38] Chr11:4012127 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1534G>A (p.Gly512Ser)	single nucleotide variant	not provided [RCV003394775]	Chr11:4084732 [GRCh38] Chr11:4105962 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+80T>A	single nucleotide variant	not provided [RCV003394776]	Chr11:4086623 [GRCh38] Chr11:4107853 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.676G>A (p.Gly226Ser)	single nucleotide variant	Inborn genetic diseases [RCV003361977]	Chr11:4070088 [GRCh38] Chr11:4091318 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1673T>G (p.Met558Arg)	single nucleotide variant	Inborn genetic diseases [RCV003372065]	Chr11:4091320 [GRCh38] Chr11:4112550 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.673G>T (p.Gly225Cys)	single nucleotide variant	Stormorken syndrome [RCV003779210]\|not provided [RCV003481999]	Chr11:4070085 [GRCh38] Chr11:4091315 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1525A>C (p.Thr509Pro)	single nucleotide variant	not provided [RCV003456760]	Chr11:4084723 [GRCh38] Chr11:4105953 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.216C>G (p.His72Gln)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV003482488]	Chr11:3967628 [GRCh38] Chr11:3988858 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)	single nucleotide variant	Stormorken syndrome [RCV003791854]	Chr11:4086489 [GRCh38] Chr11:4107719 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.198G>A (p.Glu66=)	single nucleotide variant	not provided [RCV003390023]	Chr11:3967610 [GRCh38] Chr11:3988840 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1215A>G (p.Val405=)	single nucleotide variant	not provided [RCV003390024]	Chr11:4082959 [GRCh38] Chr11:4104189 [GRCh37] Chr11:11p15.4	likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	copy number gain	Russell-Silver syndrome [RCV003444025]	Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4	pathogenic
NM_001382567.1(STIM1):c.729G>A (p.Lys243=)	single nucleotide variant	Stormorken syndrome [RCV003790983]	Chr11:4070141 [GRCh38] Chr11:4091371 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+221C>G	single nucleotide variant	not provided [RCV003394777]	Chr11:4086764 [GRCh38] Chr11:4107994 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2135A>G (p.Lys712Arg)	single nucleotide variant	not provided [RCV003456761]	Chr11:4091782 [GRCh38] Chr11:4113012 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1662_1673delinsACTCCCTCG (p.Ser555_Met558delinsLeuProArg)	indel	STIM1-related disorder [RCV003400200]	Chr11:4091309..4091320 [GRCh38] Chr11:4112539..4112550 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+166_1634+174del	deletion	not provided [RCV003443552]	Chr11:4086703..4086711 [GRCh38] Chr11:4107933..4107941 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1978C>T (p.Pro660Ser)	single nucleotide variant	STIM1-related disorder [RCV003399663]	Chr11:4091625 [GRCh38] Chr11:4112855 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1474+17C>T	single nucleotide variant	Stormorken syndrome [RCV003793750]	Chr11:4083515 [GRCh38] Chr11:4104745 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1122G>A (p.Leu374=)	single nucleotide variant	Stormorken syndrome [RCV003794814]	Chr11:4082336 [GRCh38] Chr11:4103566 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.140-9C>T	single nucleotide variant	Stormorken syndrome [RCV003788501]\|not specified [RCV004801395]	Chr11:3967543 [GRCh38] Chr11:3988773 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.497+17G>T	single nucleotide variant	Stormorken syndrome [RCV003788634]	Chr11:4055654 [GRCh38] Chr11:4076884 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2108A>G (p.Lys703Arg)	single nucleotide variant	Stormorken syndrome [RCV003780806]	Chr11:4091755 [GRCh38] Chr11:4112985 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)	single nucleotide variant	Stormorken syndrome [RCV003797638]	Chr11:4091547 [GRCh38] Chr11:4112777 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)	microsatellite	Stormorken syndrome [RCV003783901]	Chr11:3856313..3856315 [GRCh38] Chr11:3877543..3877545 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)	single nucleotide variant	Stormorken syndrome [RCV003805982]	Chr11:4074612 [GRCh38] Chr11:4095842 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.314A>C (p.His105Pro)	single nucleotide variant	Stormorken syndrome [RCV003797169]	Chr11:4023916 [GRCh38] Chr11:4045146 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1119G>C (p.Leu373=)	single nucleotide variant	Stormorken syndrome [RCV003784162]	Chr11:4082333 [GRCh38] Chr11:4103563 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)	single nucleotide variant	Stormorken syndrome [RCV003797843]	Chr11:3967630 [GRCh38] Chr11:3988860 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)	single nucleotide variant	Stormorken syndrome [RCV003796094]	Chr11:4091392 [GRCh38] Chr11:4112622 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)	single nucleotide variant	Stormorken syndrome [RCV003783207]	Chr11:4091629 [GRCh38] Chr11:4112859 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)	single nucleotide variant	Stormorken syndrome [RCV003794656]	Chr11:4086495 [GRCh38] Chr11:4107725 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.537G>A (p.Leu179=)	single nucleotide variant	Stormorken syndrome [RCV003786602]	Chr11:4059320 [GRCh38] Chr11:4080550 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.246T>C (p.Asp82=)	single nucleotide variant	Stormorken syndrome [RCV003794221]	Chr11:3967658 [GRCh38] Chr11:3988888 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.831G>T (p.Val277=)	single nucleotide variant	Stormorken syndrome [RCV003805135]	Chr11:4074541 [GRCh38] Chr11:4095771 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)	single nucleotide variant	Stormorken syndrome [RCV003794907]	Chr11:4083483 [GRCh38] Chr11:4104713 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)	single nucleotide variant	Stormorken syndrome [RCV003783959]	Chr11:4091721 [GRCh38] Chr11:4112951 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.870C>T (p.Ile290=)	single nucleotide variant	Stormorken syndrome [RCV003787450]	Chr11:4074580 [GRCh38] Chr11:4095810 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)	single nucleotide variant	Stormorken syndrome [RCV003795074]	Chr11:4091493 [GRCh38] Chr11:4112723 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1620C>G (p.Gly540=)	single nucleotide variant	Stormorken syndrome [RCV003787516]	Chr11:4086529 [GRCh38] Chr11:4107759 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1703C>G (p.Pro568Arg)	single nucleotide variant	Stormorken syndrome [RCV003780980]	Chr11:4091350 [GRCh38] Chr11:4112580 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1137+11C>G	single nucleotide variant	Stormorken syndrome [RCV003791143]	Chr11:4082362 [GRCh38] Chr11:4103592 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.498-14C>G	single nucleotide variant	Stormorken syndrome [RCV003782000]	Chr11:4059267 [GRCh38] Chr11:4080497 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1872C>T (p.Ala624=)	single nucleotide variant	Stormorken syndrome [RCV003789037]	Chr11:4091519 [GRCh38] Chr11:4112749 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)	single nucleotide variant	Stormorken syndrome [RCV003804121]	Chr11:4086501 [GRCh38] Chr11:4107731 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.497+16G>A	single nucleotide variant	Stormorken syndrome [RCV003794447]	Chr11:4055653 [GRCh38] Chr11:4076883 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.846G>C (p.Leu282=)	single nucleotide variant	Stormorken syndrome [RCV003790415]	Chr11:4074556 [GRCh38] Chr11:4095786 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1137+14T>G	single nucleotide variant	Stormorken syndrome [RCV003791411]	Chr11:4082365 [GRCh38] Chr11:4103595 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.360G>A (p.Leu120=)	single nucleotide variant	Stormorken syndrome [RCV003792397]	Chr11:4023962 [GRCh38] Chr11:4045192 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.498-16C>G	single nucleotide variant	Stormorken syndrome [RCV003796461]	Chr11:4059265 [GRCh38] Chr11:4080495 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)	single nucleotide variant	Stormorken syndrome [RCV003796540]	Chr11:4070159 [GRCh38] Chr11:4091389 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1137+18A>G	single nucleotide variant	Stormorken syndrome [RCV003781225]	Chr11:4082369 [GRCh38] Chr11:4103599 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)	single nucleotide variant	Stormorken syndrome [RCV003781453]	Chr11:4091745 [GRCh38] Chr11:4112975 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)	single nucleotide variant	Stormorken syndrome [RCV003806772]	Chr11:4070096 [GRCh38] Chr11:4091326 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.375G>A (p.Lys125=)	single nucleotide variant	Stormorken syndrome [RCV003780044]	Chr11:4023977 [GRCh38] Chr11:4045207 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)	single nucleotide variant	Stormorken syndrome [RCV003787204]	Chr11:4091542 [GRCh38] Chr11:4112772 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.240T>C (p.Asn80=)	single nucleotide variant	Stormorken syndrome [RCV003796623]	Chr11:3967652 [GRCh38] Chr11:3988882 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1879C>T (p.Leu627=)	single nucleotide variant	Stormorken syndrome [RCV003794179]	Chr11:4091526 [GRCh38] Chr11:4112756 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1123G>C (p.Val375Leu)	single nucleotide variant	Stormorken syndrome [RCV003783298]	Chr11:4082337 [GRCh38] Chr11:4103567 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-9C>T	single nucleotide variant	Stormorken syndrome [RCV003785649]	Chr11:4074493 [GRCh38] Chr11:4095723 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.342C>T (p.Leu114=)	single nucleotide variant	Stormorken syndrome [RCV003788680]	Chr11:4023944 [GRCh38] Chr11:4045174 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)	single nucleotide variant	Stormorken syndrome [RCV003786450]	Chr11:3856316 [GRCh38] Chr11:3877546 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.354G>A (p.Glu118=)	single nucleotide variant	Stormorken syndrome [RCV003790678]	Chr11:4023956 [GRCh38] Chr11:4045186 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)	single nucleotide variant	Stormorken syndrome [RCV003806652]	Chr11:3856349 [GRCh38] Chr11:3877579 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2013A>G (p.Arg671=)	single nucleotide variant	Stormorken syndrome [RCV003807306]	Chr11:4091660 [GRCh38] Chr11:4112890 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)	single nucleotide variant	Stormorken syndrome [RCV003786818]	Chr11:4091721 [GRCh38] Chr11:4112951 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)	single nucleotide variant	Stormorken syndrome [RCV003789646]	Chr11:4091289 [GRCh38] Chr11:4112519 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1463T>A (p.Leu488Ter)	single nucleotide variant	Stormorken syndrome [RCV003787030]	Chr11:4083487 [GRCh38] Chr11:4104717 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)	single nucleotide variant	Stormorken syndrome [RCV003784119]	Chr11:3967682 [GRCh38] Chr11:3988912 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)	single nucleotide variant	Stormorken syndrome [RCV003784622]	Chr11:4082976 [GRCh38] Chr11:4104206 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)	single nucleotide variant	Stormorken syndrome [RCV003796930]	Chr11:4091739 [GRCh38] Chr11:4112969 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+12C>T	single nucleotide variant	Stormorken syndrome [RCV003786657]	Chr11:3967694 [GRCh38] Chr11:3988924 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)	single nucleotide variant	Stormorken syndrome [RCV003805181]	Chr11:3967555 [GRCh38] Chr11:3988785 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)	single nucleotide variant	Stormorken syndrome [RCV003782141]	Chr11:3856382 [GRCh38] Chr11:3877612 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.620G>A (p.Arg207His)	single nucleotide variant	Stormorken syndrome [RCV003786952]	Chr11:4070032 [GRCh38] Chr11:4091262 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1620C>T (p.Gly540=)	single nucleotide variant	Stormorken syndrome [RCV003791314]	Chr11:4086529 [GRCh38] Chr11:4107759 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1138-15dup	duplication	Stormorken syndrome [RCV003781812]	Chr11:4082862..4082863 [GRCh38] Chr11:4104092..4104093 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.801G>A (p.Lys267=)	single nucleotide variant	Stormorken syndrome [RCV003789102]	Chr11:4074511 [GRCh38] Chr11:4095741 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.140-5C>T	single nucleotide variant	Stormorken syndrome [RCV003790473]\|not provided [RCV004723480]	Chr11:3967547 [GRCh38] Chr11:3988777 [GRCh37] Chr11:11p15.4	likely benign\|uncertain significance
NM_001382567.1(STIM1):c.643A>C (p.Met215Leu)	single nucleotide variant	not provided [RCV003491622]	Chr11:4070055 [GRCh38] Chr11:4091285 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.498-6C>T	single nucleotide variant	Stormorken syndrome [RCV003791208]	Chr11:4059275 [GRCh38] Chr11:4080505 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)	single nucleotide variant	Stormorken syndrome [RCV003789244]	Chr11:4091497 [GRCh38] Chr11:4112727 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)	single nucleotide variant	Stormorken syndrome [RCV003787784]	Chr11:4059301 [GRCh38] Chr11:4080531 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)	single nucleotide variant	Stormorken syndrome [RCV003780020]	Chr11:4083263 [GRCh38] Chr11:4104493 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1712T>G (p.Met571Arg)	single nucleotide variant	Stormorken syndrome [RCV003789302]	Chr11:4091359 [GRCh38] Chr11:4112589 [GRCh37] Chr11:11p15.4	benign
NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)	single nucleotide variant	Stormorken syndrome [RCV003793885]	Chr11:4091320 [GRCh38] Chr11:4112550 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.954G>A (p.Glu318=)	single nucleotide variant	Stormorken syndrome [RCV003783107]	Chr11:4074664 [GRCh38] Chr11:4095894 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)	single nucleotide variant	Stormorken syndrome [RCV003782735]	Chr11:3967611 [GRCh38] Chr11:3988841 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)	single nucleotide variant	Stormorken syndrome [RCV003793036]	Chr11:4091530 [GRCh38] Chr11:4112760 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)	single nucleotide variant	Stormorken syndrome [RCV003781422]	Chr11:4091502 [GRCh38] Chr11:4112732 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)	single nucleotide variant	Stormorken syndrome [RCV003808091]	Chr11:3856377 [GRCh38] Chr11:3877607 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)	single nucleotide variant	Stormorken syndrome [RCV003800048]	Chr11:4091502 [GRCh38] Chr11:4112732 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1791G>T (p.Gly597=)	single nucleotide variant	Stormorken syndrome [RCV003809320]	Chr11:4091438 [GRCh38] Chr11:4112668 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.495A>C (p.Pro165=)	single nucleotide variant	Stormorken syndrome [RCV003799204]	Chr11:4055635 [GRCh38] Chr11:4076865 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)	single nucleotide variant	Stormorken syndrome [RCV003801318]	Chr11:4083366 [GRCh38] Chr11:4104596 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.630C>G (p.His210Gln)	single nucleotide variant	Stormorken syndrome [RCV003809604]	Chr11:4070042 [GRCh38] Chr11:4091272 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1568-13A>T	single nucleotide variant	Stormorken syndrome [RCV003799526]	Chr11:4086464 [GRCh38] Chr11:4107694 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1605G>A (p.Thr535=)	single nucleotide variant	Stormorken syndrome [RCV003813081]	Chr11:4086514 [GRCh38] Chr11:4107744 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG	indel	Stormorken syndrome [RCV003812489]	Chr11:4083514..4083515 [GRCh38] Chr11:4104744..4104745 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)	single nucleotide variant	Stormorken syndrome [RCV003818134]	Chr11:4091560 [GRCh38] Chr11:4112790 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.792-5C>G	single nucleotide variant	Stormorken syndrome [RCV003809368]	Chr11:4074497 [GRCh38] Chr11:4095727 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)	single nucleotide variant	Stormorken syndrome [RCV003812666]	Chr11:3856371 [GRCh38] Chr11:3877601 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)	single nucleotide variant	Stormorken syndrome [RCV003798069]	Chr11:4083424 [GRCh38] Chr11:4104654 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.271-11T>C	single nucleotide variant	Stormorken syndrome [RCV003798735]	Chr11:4023862 [GRCh38] Chr11:4045092 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1779G>T (p.Gly593=)	single nucleotide variant	Stormorken syndrome [RCV003808955]	Chr11:4091426 [GRCh38] Chr11:4112656 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)	single nucleotide variant	Stormorken syndrome [RCV003801471]	Chr11:4091638 [GRCh38] Chr11:4112868 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)	single nucleotide variant	Stormorken syndrome [RCV003813454]	Chr11:4091529 [GRCh38] Chr11:4112759 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1239-10_1239-9del	microsatellite	Stormorken syndrome [RCV003809579]	Chr11:4083251..4083252 [GRCh38] Chr11:4104481..4104482 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1568-10C>T	single nucleotide variant	Stormorken syndrome [RCV003817975]	Chr11:4086467 [GRCh38] Chr11:4107697 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.271-3034_271-3023del	deletion	Stormorken syndrome [RCV003798075]	Chr11:4020838..4020849 [GRCh38] Chr11:4042068..4042079 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)	single nucleotide variant	Stormorken syndrome [RCV003815703]	Chr11:4083381 [GRCh38] Chr11:4104611 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1980A>G (p.Pro660=)	single nucleotide variant	Stormorken syndrome [RCV003799819]	Chr11:4091627 [GRCh38] Chr11:4112857 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)	single nucleotide variant	Stormorken syndrome [RCV003813569]	Chr11:3856337 [GRCh38] Chr11:3877567 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)	single nucleotide variant	Stormorken syndrome [RCV003812402]	Chr11:4083477 [GRCh38] Chr11:4104707 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.296A>G (p.His99Arg)	single nucleotide variant	Stormorken syndrome [RCV003799923]	Chr11:4023898 [GRCh38] Chr11:4045128 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)	single nucleotide variant	Stormorken syndrome [RCV003800521]	Chr11:4091437 [GRCh38] Chr11:4112667 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.206G>A (p.Arg69His)	single nucleotide variant	Stormorken syndrome [RCV003810135]	Chr11:3967618 [GRCh38] Chr11:3988848 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)	single nucleotide variant	Stormorken syndrome [RCV003797912]	Chr11:3856334 [GRCh38] Chr11:3877564 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.270+19C>T	single nucleotide variant	Stormorken syndrome [RCV003810276]	Chr11:3967701 [GRCh38] Chr11:3988931 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.614-20T>G	single nucleotide variant	Stormorken syndrome [RCV003799311]	Chr11:4070006 [GRCh38] Chr11:4091236 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1749T>G (p.Thr583=)	single nucleotide variant	Stormorken syndrome [RCV003808938]	Chr11:4091396 [GRCh38] Chr11:4112626 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.702C>T (p.Asn234=)	single nucleotide variant	Stormorken syndrome [RCV003803866]	Chr11:4070114 [GRCh38] Chr11:4091344 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.297T>C (p.His99=)	single nucleotide variant	Stormorken syndrome [RCV003803602]	Chr11:4023899 [GRCh38] Chr11:4045129 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.68T>A (p.Leu23His)	single nucleotide variant	Stormorken syndrome [RCV003802868]	Chr11:3856338 [GRCh38] Chr11:3877568 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1767G>A (p.Arg589=)	single nucleotide variant	Stormorken syndrome [RCV003802039]	Chr11:4091414 [GRCh38] Chr11:4112644 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)	single nucleotide variant	Stormorken syndrome [RCV003803083]	Chr11:4091756 [GRCh38] Chr11:4112986 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)	single nucleotide variant	Stormorken syndrome [RCV003802125]	Chr11:4091517 [GRCh38] Chr11:4112747 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)	single nucleotide variant	Stormorken syndrome [RCV003803477]	Chr11:3967572 [GRCh38] Chr11:3988802 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)	single nucleotide variant	Stormorken syndrome [RCV003802620]	Chr11:4091689 [GRCh38] Chr11:4112919 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1634+100C>T	single nucleotide variant	STIM1-related disorder [RCV003969278]	Chr11:4086643 [GRCh38] Chr11:4107873 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.831G>A (p.Val277=)	single nucleotide variant	STIM1-related disorder [RCV003904522]	Chr11:4074541 [GRCh38] Chr11:4095771 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.241G>T (p.Gly81Cys)	single nucleotide variant	Combined immunodeficiency due to STIM1 deficiency [RCV003990097]	Chr11:3967653 [GRCh38] Chr11:3988883 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1453del (p.Val485fs)	deletion	Myopathy, tubular aggregate, 1 [RCV003983756]	Chr11:4083477 [GRCh38] Chr11:4104707 [GRCh37] Chr11:11p15.4	pathogenic
NM_001382567.1(STIM1):c.250G>A (p.Asp84Asn)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV004556139]	Chr11:3967662 [GRCh38] Chr11:3988892 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1567+5G>C	single nucleotide variant	not provided [RCV004546919]	Chr11:4084770 [GRCh38] Chr11:4106000 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.*2C>T	single nucleotide variant	STIM1-related disorder [RCV003982649]	Chr11:4091800 [GRCh38] Chr11:4113030 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.252T>A (p.Asp84Glu)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV004556138]	Chr11:3967664 [GRCh38] Chr11:3988894 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.286C>G (p.Leu96Val)	single nucleotide variant	Inborn genetic diseases [RCV004465596]	Chr11:4023888 [GRCh38] Chr11:4045118 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_3845093)_(4045237_?)dup	duplication	Stormorken syndrome [RCV004580175]	Chr11:3845093..4045237 [GRCh37] Chr11:11p15.4	uncertain significance
NC_000011.9:g.(?_4104092)_(4113028_?)dup	duplication	Stormorken syndrome [RCV004580176]	Chr11:4104092..4113028 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.293A>G (p.Tyr98Cys)	single nucleotide variant	Myopathy with tubular aggregates [RCV004587608]	Chr11:4023895 [GRCh38] Chr11:4045125 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.344T>C (p.Ile115Thr)	single nucleotide variant	Myopathy, tubular aggregate, 1 [RCV004596059]	Chr11:4023946 [GRCh38] Chr11:4045176 [GRCh37] Chr11:11p15.4	likely pathogenic
NM_001382567.1(STIM1):c.1329C>G (p.Asn443Lys)	single nucleotide variant	not provided [RCV004590902]	Chr11:4083353 [GRCh38] Chr11:4104583 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1134G>T (p.Glu378Asp)	single nucleotide variant	Inborn genetic diseases [RCV004668065]	Chr11:4082348 [GRCh38] Chr11:4103578 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.817C>T (p.Arg273Cys)	single nucleotide variant	not provided [RCV004698138]	Chr11:4074527 [GRCh38] Chr11:4095757 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1123G>A (p.Val375Met)	single nucleotide variant	not specified [RCV004595983]	Chr11:4082337 [GRCh38] Chr11:4103567 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.936C>T (p.Ser312=)	single nucleotide variant	STIM1-related disorder [RCV004728171]	Chr11:4074646 [GRCh38] Chr11:4095876 [GRCh37] Chr11:11p15.4	likely benign
NM_001382567.1(STIM1):c.1634+184C>T	single nucleotide variant	not provided [RCV004760814]		uncertain significance
NM_001382567.1(STIM1):c.1635G>C (p.Arg545Ser)	single nucleotide variant	not provided [RCV004811064]	Chr11:4091282 [GRCh38] Chr11:4112512 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.1401C>G (p.Asn467Lys)	single nucleotide variant	not provided [RCV004769273]	Chr11:4083425 [GRCh38] Chr11:4104655 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.710C>G (p.Ser237Cys)	single nucleotide variant	not provided [RCV004795060]	Chr11:4070122 [GRCh38] Chr11:4091352 [GRCh37] Chr11:11p15.4	uncertain significance
NM_001382567.1(STIM1):c.763G>A (p.Glu255Lys)	single nucleotide variant	STIM1-related disorder [RCV004749208]	Chr11:4070175 [GRCh38] Chr11:4091405 [GRCh37] Chr11:11p15.4	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5438
Count of miRNA genes:	1185
Interacting mature miRNAs:	1501
Transcripts:	ENST00000300737, ENST00000524822, ENST00000525055, ENST00000525403, ENST00000526156, ENST00000526596, ENST00000526771, ENST00000527484, ENST00000527651, ENST00000528656, ENST00000530554, ENST00000531332, ENST00000532610, ENST00000532919, ENST00000532990, ENST00000533343, ENST00000533445, ENST00000533977, ENST00000534707
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406977313	GWAS626289_H	platelet component distribution width QTL GWAS626289 (human)		8e-11	platelet component distribution width	platelet distribution width (CMO:0001350)	11	3865946	3865947	Human
1558691	SCL8_H	Serum cholesterol level QTL 8 (human)	1.2		Lipid level	HDL cholesterol	11	1	5227071	Human
1559107	SCL32_H	Serum cholesterol level QTL 32 (human)	3.27		Lipid level	LDL cholesterol	11	2892430	28892430	Human
406981054	GWAS630030_H	hemoglobin measurement QTL GWAS630030 (human)		9e-10	hemoglobin measurement	hemoglobin measurement (CMO:0000508)	11	3923099	3923100	Human
406999039	GWAS648015_H	adolescent idiopathic scoliosis QTL GWAS648015 (human)		2e-11	adolescent idiopathic scoliosis		11	4077022	4077023	Human
1559113	SCL31_H	Serum cholesterol level QTL 31 (human)	3.72		Lipid level	LDL cholesterol	11	2892430	28892430	Human
406891678	GWAS540654_H	mean platelet volume QTL GWAS540654 (human)		5e-11	mean platelet volume	mean platelet volume (CMO:0001348)	11	3865946	3865947	Human

Markers in Region

G09873

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,898,349 - 3,898,606	UniSTS	GRCh37
Build 36	11	3,854,925 - 3,855,182	RGD	NCBI36
Celera	11	3,903,427 - 3,903,684	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,632,012 - 3,632,269	UniSTS

D11S4403

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,970,778 - 3,971,006	UniSTS	GRCh37
Build 36	11	3,927,354 - 3,927,582	RGD	NCBI36
Celera	11	3,975,857 - 3,976,085	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,704,064 - 3,704,292	UniSTS

RH48059

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,087,626 - 4,087,790	UniSTS	GRCh37
Build 36	11	4,044,202 - 4,044,366	RGD	NCBI36
Celera	11	4,092,582 - 4,092,746	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,821,064 - 3,821,228	UniSTS
GeneMap99-GB4 RH Map	11	36.42	UniSTS

RH37425

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	168,654,389 - 168,654,556	UniSTS	GRCh37
GRCh37	11	4,029,696 - 4,029,999	UniSTS	GRCh37
Build 36	6	168,397,238 - 168,397,405	RGD	NCBI36
Celera	6	169,372,293 - 169,372,460	RGD
Celera	11	4,034,791 - 4,035,094	UniSTS
HuRef	11	3,763,126 - 3,763,429	UniSTS
HuRef	6	166,083,044 - 166,083,211	UniSTS
GeneMap99-GB4 RH Map	6	637.22	UniSTS

RH36268

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,902,044 - 3,902,150	UniSTS	GRCh37
Build 36	11	3,858,620 - 3,858,726	RGD	NCBI36
Celera	11	3,907,122 - 3,907,228	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,635,707 - 3,635,813	UniSTS
GeneMap99-GB4 RH Map	11	36.42	UniSTS

G59762

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,987,628 - 3,987,857	UniSTS	GRCh37
Build 36	11	3,944,204 - 3,944,433	RGD	NCBI36
Celera	11	3,992,707 - 3,992,936	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,720,914 - 3,721,143	UniSTS
TNG Radiation Hybrid Map	11	1699.0	UniSTS

D11S1251

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,070,885 - 4,071,042	UniSTS	GRCh37
Build 36	11	4,027,461 - 4,027,618	RGD	NCBI36
Celera	11	4,075,834 - 4,075,997	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,804,325 - 3,804,480	UniSTS

D11S2347

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,983,594 - 3,983,746	UniSTS	GRCh37
Build 36	11	3,940,170 - 3,940,322	RGD	NCBI36
Celera	11	3,988,673 - 3,988,825	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,716,880 - 3,717,032	UniSTS

D11S3193

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	3,986,698 - 3,987,123	UniSTS	GRCh37
GRCh37	11	3,986,698 - 3,986,987	UniSTS	GRCh37
Build 36	11	3,943,274 - 3,943,563	RGD	NCBI36
Celera	11	3,991,777 - 3,992,066	RGD
Celera	11	3,991,777 - 3,992,202	UniSTS
HuRef	11	3,719,984 - 3,720,409	UniSTS
HuRef	11	3,719,984 - 3,720,273	UniSTS

D11S3801

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,018,951 - 4,019,184	UniSTS	GRCh37
Build 36	11	3,975,527 - 3,975,760	RGD	NCBI36
Celera	11	4,024,046 - 4,024,279	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,752,381 - 3,752,614	UniSTS

SHGC-143338

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,059,705 - 4,059,981	UniSTS	GRCh37
Build 36	11	4,016,281 - 4,016,557	RGD	NCBI36
Celera	11	4,064,654 - 4,064,930	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,793,143 - 3,793,419	UniSTS
TNG Radiation Hybrid Map	11	1732.0	UniSTS

REN61305

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	1,748,598 - 1,748,861	UniSTS	GRCh37
Build 36	11	1,705,174 - 1,705,437	RGD	NCBI36
Celera	11	1,786,714 - 1,786,977	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,686,165 - 3,687,346	UniSTS
HuRef	11	1,539,613 - 1,539,876	UniSTS

REN90816

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,010,238 - 4,010,464	UniSTS	GRCh37
GRCh37	X	154,045,225 - 154,045,451	UniSTS	GRCh37
Build 36	X	153,698,419 - 153,698,645	RGD	NCBI36
Celera	11	4,015,333 - 4,015,559	UniSTS
Celera	X	154,203,770 - 154,203,996	RGD
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
HuRef	11	3,743,669 - 3,743,895	UniSTS
HuRef	X	142,588,489 - 142,588,715	UniSTS

STIM1_8654

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,113,733 - 4,114,466	UniSTS	GRCh37
Build 36	11	4,070,309 - 4,071,042	RGD	NCBI36
Celera	11	4,118,689 - 4,119,422	RGD
HuRef	11	3,847,154 - 3,847,887	UniSTS

RH35854

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,114,206 - 4,114,359	UniSTS	GRCh37
Build 36	11	4,070,782 - 4,070,935	RGD	NCBI36
Celera	11	4,119,162 - 4,119,315	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,847,627 - 3,847,780	UniSTS
GeneMap99-GB4 RH Map	11	36.32	UniSTS

D11S1044

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	4,000,242 - 4,000,517	UniSTS	GRCh37
Build 36	11	3,956,818 - 3,957,093	RGD	NCBI36
Celera	11	4,005,338 - 4,005,613	RGD
Cytogenetic Map	11	p15.5	UniSTS
HuRef	11	3,733,671 - 3,733,946	UniSTS

D8S2279

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q22.12	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q22.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	12	q24.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	7	q21.11	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	6	p21.1-p12	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	8	p23	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	13	q14.1-q14.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	3	q13.1-q13.2	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	17	p13.1-p12	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	17	p12-p11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	1	q23.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	4	q32.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	5	q14.2	UniSTS
Cytogenetic Map	4	q32.1	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	p35.2	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	18	q12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	3	q27.2	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	1	q42	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	17	q21.2-q21.3	UniSTS
Cytogenetic Map	5	q32-q34	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	13	q14.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	10	p12	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	12	q21.33	UniSTS
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.31-q13.33	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	7	q32.2	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	14	q31-q32.1	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	2	q11.2-q12.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	20	p11.23-p11.21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	9	q21.32	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	4	q21.23	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	10	q11.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	7	q34-q35	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	6	p25.1-p23	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	12	p13.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	X	p21.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	12	p13-p12	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	8	q24	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	11	p15.3-p15.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q22	UniSTS
Cytogenetic Map	4	p15.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	2	p16.3	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	6	q24.3	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	15	q22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	3	p21-p12	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p22-p21.33	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	9	q22	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	2	q31.3	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q32-q33	UniSTS
Cytogenetic Map	7	q21.1	UniSTS
Cytogenetic Map	14	q23-q24.2	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	2	p24-p21	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	12	p11	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	17	q25.2	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	X	q25-q26	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	15	q25	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	1	q25.1-q25.2	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	14	q12-q13	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	4	q32-q34	UniSTS
Cytogenetic Map	X	q25-q26.1	UniSTS
Cytogenetic Map	2	p25-p24	UniSTS
Cytogenetic Map	2	p25	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	X	p22.2-p22.1	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	20	q11.22-q12	UniSTS
Cytogenetic Map	4	q34.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	9	q31.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	21	q21.2	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	8	q21.1	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogen

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Manual Human Phenotype Annotations - RGD

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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