"Blueprint Genetics"[submitter] AND "PGM3"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 967853	NM_015599.3(PGM3):c.1514G>A (p.Arg505Gln)	DOP1A, PGM3 (R505Q +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GUncertain significance
Select item 655964	NM_015599.3(PGM3):c.1135T>C (p.Phe379Leu)	PGM3 (F379L +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GConflicting classifications of pathogenicity