"PreventionGenetics, part of Exact Sciences"[submitter] AND "MPO"[gene - ClinVar - NCBI

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Items: 16

	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 403102	NM_000250.2(MPO):c.2031-6A>C	MPO	Single nucleotide variant (intron variant)	MPO-related disorder +1 more	GBenign
Select item 3039581	NM_000250.2(MPO):c.1951C>T (p.Leu651=)	MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 3052711	NM_000250.2(MPO):c.1924A>C (p.Ile642Leu)	MPO (I642L)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely benign
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 3629	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	LOC106694316, MPO (M519fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3635	NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)	LOC106694316, MPO (R499C)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely pathogenic
Select item 3038937	NM_000250.2(MPO):c.1470C>T (p.Ile490=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 790182	NM_000250.2(MPO):c.1410G>A (p.Thr470=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718104	NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)	MPO, LOC106694316 (R460Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3628	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	MPO (M251T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1323288	NM_000250.2(MPO):c.721C>T (p.Gln241Ter)	MPO (Q241*)	Single nucleotide variant (nonsense)	MPO-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3044215	NM_000250.2(MPO):c.495G>T (p.Val165=)	MPO	Single nucleotide variant (synonymous variant)	MPO-related disorder	GLikely benign
Select item 3047219	NM_000250.2(MPO):c.248+9C>T	LOC106694315, MPO	Single nucleotide variant (intron variant)	MPO-related disorder	GLikely benign
Select item 3055447	NM_000250.2(MPO):c.157G>T (p.Val53Phe)	MPO, LOC106694315 (V53F)	Single nucleotide variant (missense variant)	MPO-related disorder	GBenign
Select item 3047393	NM_000250.2(MPO):c.47G>A (p.Gly16Glu)	LOC106694315, MPO (G16E)	Single nucleotide variant (missense variant)	MPO-related disorder	GLikely benign