C5231393[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2765352	NM_001367916.1(MAGT1):c.628A>G (p.Met210Val)	MAGT1 (M210V +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +1 more	GConflicting classifications of pathogenicity
Select item 2782795	NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)	LOC130068460, MAGT1 (A49T +1 more)	Single nucleotide variant (missense variant)	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +2 more	GConflicting classifications of pathogenicity