ClinVar for MedGen (Select 96015) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3891714	NM_000250.2(MPO):c.793_798del (p.Phe265_Thr266del)	MPO	Deletion (inframe_deletion)	Myeloperoxidase deficiency +1 more	GUncertain significance
Select item 3891713	NM_000250.2(MPO):c.791A>G (p.Asp264Gly)	MPO (D264G)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +1 more	GUncertain significance
Select item 3891712	NM_000250.2(MPO):c.450T>G (p.Asn150Lys)	LOC106694315, MPO (N150K)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +1 more	GUncertain significance
Select item 3779889	NM_000250.2(MPO):c.817dup (p.Ala273fs)	MPO (A273fs)	Duplication (frameshift variant)	Myeloperoxidase deficiency	GLikely pathogenic
Select item 3341075	NM_000250.2(MPO):c.[1281del];[518A>G]			Myeloperoxidase deficiency	GLikely pathogenic
Select item 3340537	NM_000250.2(MPO):c.[2031-2A>C];[752T>C]			Myeloperoxidase deficiency	GLikely pathogenic
Select item 3238836	NM_000250.2(MPO):c.402G>A (p.Trp134Ter)	LOC106694315, MPO (W134*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GLikely 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 2627633	NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)	LOC106694316, MPO (R571*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GLikely pathogenic
Select item 1324732	NM_000250.2(MPO):c.249-2A>G	LOC106694315, MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +1 more	GLikely pathogenic
Select item 1323289	NM_000250.2(MPO):c.403C>T (p.Arg135Ter)	LOC106694315, MPO (R135*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency	GPathogenic
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 995959	NM_000250.2(MPO):c.1783G>A (p.Gly595Ser)	LOC106694316, MPO (G595S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 777205	NM_000250.2(MPO):c.2187C>T (p.Asn729=)	MPO	Single nucleotide variant (synonymous variant)	Myeloperoxidase deficiency +2 more	GBenign/Likely benign
Select item 489145	NM_000250.2(MPO):c.604G>T (p.Glu202Ter)	MPO (E202*)	Single nucleotide variant (nonsense)	Myeloperoxidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 452644	NM_000250.2(MPO):c.1281del (p.Thr428fs)	LOC106694316, MPO (T428fs)	Deletion (frameshift variant)	Myeloperoxidase deficiency +1 more	GLikely pathogenic
Select item 3635	NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)	LOC106694316, MPO (R499C)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3634	NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)	LOC106694316, MPO (G501S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 3632	NM_000250.2(MPO):c.2031-2A>C	LPO, MPO	Single nucleotide variant (splice acceptor variant)	Myeloperoxidase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 3631	NM_000250.2(MPO):c.1715T>G (p.Leu572Trp)	LOC106694316, MPO (L572W)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
Select item 3630	NM_000250.2(MPO):c.995C>T (p.Ala332Val)	MPO (A332V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3629	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	LOC106694316, MPO (M519fs)	Deletion (frameshift variant)	Myeloperoxidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3628	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	LPO, MPO (M251T)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3627	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	MPO (Y173C)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GConflicting classifications of pathogenicity
Select item 3626	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	LOC106694316, MPO (R569W)	Single nucleotide variant (missense variant)	Alzheimer disease type 1 +2 more	GPathogenic/Likely pathogenic

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Items: 25