C0398595[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 3626	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316, MPO (R569W)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 2689443	NM_000250.2(MPO):c.1643G>A (p.Arg548Gln)	LOC106694316, MPO (R548Q)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GUncertain significance
Select item 3629	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	LOC106694316, MPO (M519fs)	Deletion (frameshift variant)	MPO-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1323288	NM_000250.2(MPO):c.721C>T (p.Gln241Ter)	MPO (Q241*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1323289	NM_000250.2(MPO):c.403C>T (p.Arg135Ter)	LOC106694315, MPO (R135*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GPathogenic

ClinVar