Total 16 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 SubmittersRCV000034365 RCV004586032
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	Myopathy, tubular aggregate, 1 Myopathy with tubular aggregates Stormorken syndrome Combined immunodeficiency due to STIM1 deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA130868	rs_397514677	5 SubmittersRCV000034367 RCV000814240 RCV001781342
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 Myopathy with tubular aggregates Stormorken syndrome	Criteria Provided Single Submitter	CA170740	rs_527236030	3 SubmittersRCV000132725 RCV000144069 RCV000169763 RCV000537798
NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr)	SNV Germline	Chr11:3967651	Likely pathogenic	Myopathy, tubular aggregate, 1 Combined immunodeficiency due to STIM1 deficiency Stormorken syndrome Myopathy with tubular aggregates	Criteria Provided Single Submitter	CA199255	rs_748277951	2 SubmittersRCV000169764 RCV001068304
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)	SNV Germline	Chr11:4091311	Conflicting classifications of pathogenicity	Condition: not provided Combined immunodeficiency due to STIM1 deficiency Stormorken syndrome Myopathy with tubular aggregates Combined immunodeficiency due to STIM1 deficiency Stormorken syndrome Myopathy, tubular aggregate, 1 STIM1-related disorder	Criteria Provided Conflicting Classifications	CA5830586	rs_141215990	9 SubmittersRCV000224722 RCV001079733 RCV001281026 RCV003891799
NM_001382567.1(STIM1):c.1634+287G>A	SNV Germline	Chr11:4086830	Conflicting classifications of pathogenicity	Stormorken syndrome Myopathy with tubular aggregates Combined immunodeficiency due to STIM1 deficiency Myopathy, tubular aggregate, 1 Stormorken syndrome Combined immunodeficiency due to STIM1 deficiency Condition: not provided STIM1-related disorder	Criteria Provided Conflicting Classifications	CA5830566	rs_562406813	5 SubmittersRCV000539110 RCV001281025 RCV001591217 RCV003925620
NM_001382567.1(STIM1):c.1634+269C>G	SNV Germline	Chr11:4086812	Conflicting classifications of pathogenicity	Condition: not provided Myopathy, tubular aggregate, 1 Stormorken syndrome Combined immunodeficiency due to STIM1 deficiency STIM1-related disorder	Criteria Provided Conflicting Classifications	CA5830563	rs_139558513	3 SubmittersRCV001704698 RCV003224345 RCV003945462
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 Combined immunodeficiency due to STIM1 deficiency Myopathy with tubular aggregates Condition: not provided STIM1-related disorder	Criteria Provided Conflicting Classifications		rs_118128831	5 SubmittersRCV000768100 RCV001512196 RCV001672952 RCV003918253
NM_001382567.1(STIM1):c.216C>G (p.His72Gln)	SNV Germline	Chr11:3967628	Pathogenic	Myopathy, tubular aggregate, 1	No Assertion Criteria Provided		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			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