"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258966	NM_001382567.1(STIM1):c.1080A>G (p.Gln360=)	STIM1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to STIM1 deficiency +5 more	GBenign
Select item 1292243	NM_001382567.1(STIM1):c.1138-52A>C	STIM1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1226429	NM_001382567.1(STIM1):c.1138-25T>C	STIM1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1257347	NM_001382567.1(STIM1):c.1239-138T>C	STIM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294274	NM_001382567.1(STIM1):c.1239-63G>A	STIM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 258971	NM_001382567.1(STIM1):c.1474+17C>G	STIM1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GBenign

ClinVar