Total 18 pathogenic variants reported for Myopathy, tubular aggregate, 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001382567.1(STIM1):c.251A>G (p.Asp84Gly) SNV
Germline		 Chr11:3967663 Pathogenic Myopathy, tubular aggregate, 1
Myopathy with tubular aggregates		 Criteria Provided
Single Submitter
 CA130862 rs_397514675

2 SubmittersRCV000034365RCV004586032
NM_001382567.1(STIM1):c.325C>A (p.His109Asn) SNV
Germline		 Chr11:4023927 Pathogenic Myopathy, tubular aggregate, 1 No Assertion Criteria Provided
 CA130865 rs_397514676

1 SubmittersRCV000034366
NM_001382567.1(STIM1):c.326A>G (p.His109Arg) SNV
Germline		 Chr11:4023928 Pathogenic/Likely pathogenic Myopathy, tubular aggregate, 1
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy with tubular aggregates
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA130868 rs_397514677

7 SubmittersRCV000034367RCV000814240RCV001781342
NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) SNV
Germline		 Chr11:4023945 Pathogenic Condition: not provided
Myopathy, tubular aggregate, 1
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Stormorken syndrome
Myopathy with tubular aggregates		 Criteria Provided
Single Submitter
 CA170740 rs_527236030

3 SubmittersRCV000132725RCV000144069RCV000169763RCV000537798
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) SNV
Germline		 Chr11:3967651 Likely pathogenic Myopathy, tubular aggregate, 1
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy with tubular aggregates		 Criteria Provided
Single Submitter
 CA199255 rs_748277951

2 SubmittersRCV000169764RCV001068304
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) SNV
Germline		 Chr11:4091311 Conflicting classifications of pathogenicity Condition: not provided
Stormorken syndrome
Myopathy with tubular aggregates
Combined immunodeficiency due to STIM1 deficiency
Myopathy, tubular aggregate, 1
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
STIM1-related disorder		 Criteria Provided
Conflicting Classifications
 CA5830586 rs_141215990

10 SubmittersRCV000224722RCV001079733RCV001281026RCV003891799
NM_001382567.1(STIM1):c.1634+287G>A SNV
Germline		 Chr11:4086830 Conflicting classifications of pathogenicity Myopathy with tubular aggregates
Combined immunodeficiency due to STIM1 deficiency
Stormorken syndrome
Condition: not provided
Myopathy, tubular aggregate, 1
Combined immunodeficiency due to STIM1 deficiency
Stormorken syndrome
STIM1-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA5830566 rs_562406813

6 SubmittersRCV000539110RCV001591217RCV001281025RCV003925620RCV006438236
NM_001382567.1(STIM1):c.1634+269C>G SNV
Germline		 Chr11:4086812 Conflicting classifications of pathogenicity Condition: not provided
STIM1-related disorder
Myopathy, tubular aggregate, 1
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency		 Criteria Provided
Conflicting Classifications
 CA5830563 rs_139558513

4 SubmittersRCV001704698RCV003945462RCV003224345
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) SNV
Germline		 Chr11:4091494 Conflicting classifications of pathogenicity Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy with tubular aggregates
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy, tubular aggregate, 1
Inborn genetic diseases
not specified		 Criteria Provided
Conflicting Classifications
 CA5830620 rs_750326949

4 SubmittersRCV000688407RCV001281002RCV004965668RCV003235350
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys) SNV
Germline		 Chr11:4055594 Conflicting classifications of pathogenicity Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy with tubular aggregates
Condition: not provided
not specified
Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy, tubular aggregate, 1		 Criteria Provided
Conflicting Classifications
 CA5830222 rs_143916878

4 SubmittersRCV000690569RCV003163149RCV005240474RCV005046931
NM_001382567.1(STIM1):c.1634+319G>A SNV
Germline		 Chr11:4086862 Conflicting classifications of pathogenicity Stormorken syndrome
Combined immunodeficiency due to STIM1 deficiency
Myopathy, tubular aggregate, 1
Stormorken syndrome
Myopathy with tubular aggregates
Combined immunodeficiency due to STIM1 deficiency
Condition: not provided
STIM1-related disorder
Sarcoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Malignant tumor of esophagus
Cervical cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA5830567 rs_118128831

7 SubmittersRCV000768100RCV001512196RCV001672952RCV003918253RCV005897347RCV005897348RCV005897344RCV005897345RCV005897346RCV006440108
NM_001382567.1(STIM1):c.216C>G (p.His72Gln) SNV
Germline		 Chr11:3967628 Pathogenic Myopathy, tubular aggregate, 1 No Assertion Criteria Provided
 CA379485007 rs_397515436

1 SubmittersRCV003482488
NM_001382567.1(STIM1):c.252T>A (p.Asp84Glu) SNV
Germline		 Chr11:3967664 Likely pathogenic Myopathy, tubular aggregate, 1 Criteria Provided
Single Submitter
 CA379485088 rs_2093352256

1 SubmittersRCV004556138
NM_001382567.1(STIM1):c.344T>C (p.Ile115Thr) SNV
Germline		 Chr11:4023946 Likely pathogenic Myopathy, tubular aggregate, 1 Criteria Provided
Single Submitter

1 SubmittersRCV004596059