"Baylor Genetics"[submitter] AND "MASP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032464	NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr)	MASP2 (A360T)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance
Select item 1032465	NM_006610.4(MASP2):c.503G>A (p.Arg168His)	MASP2 (R168H)	Single nucleotide variant (missense variant)	Immunodeficiency due to MASP-2 deficiency	GUncertain significance