C1861451[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506350	NM_001382567.1(STIM1):c.1634+269C>G	STIM1 (P604A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 461722	NM_001382567.1(STIM1):c.1634+287G>A	STIM1 (A610T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 626025	NM_001382567.1(STIM1):c.1634+319G>A	STIM1	Single nucleotide variant (intron variant +1 more)	Stormorken syndrome +5 more	GConflicting classifications of pathogenicity
Select item 235347	NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)	STIM1 (S524F +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +5 more	GConflicting classifications of pathogenicity
Select item 568147	NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)	LOC124418421, STIM1 (A585V +9 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GUncertain significance
Select item 992542	NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala)	LOC124418421, STIM1 (P482A +9 more)	Single nucleotide variant (missense variant +2 more)	Combined immunodeficiency due to STIM1 deficiency +3 more	GUncertain significance

ClinVar