C4014371[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1347786	NM_015599.3(PGM3):c.1554C>A (p.His518Gln)	DOP1A, PGM3 (H518Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 505650	NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)	PGM3, DOP1A (R520* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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
Select item 421723	NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)	PGM3 (I350T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475002	NM_015599.3(PGM3):c.389+3G>A	PGM3	Single nucleotide variant (intron variant)	Immunodeficiency 23 +1 more	GConflicting classifications of pathogenicity
Select item 1377883	NM_015599.3(PGM3):c.378dup (p.Arg127Ter)	PGM3 (R127* +2 more)	Duplication (nonsense +1 more)	Immunodeficiency 23	GPathogenic/Likely pathogenic
Select item 1074940	NM_015599.3(PGM3):c.-2-194C>T	PGM3 (Q21*)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 23 +2 more	GConflicting classifications of pathogenicity

ClinVar