Related gene-specific medical variations for Gene (Select 106694316) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202580	NM_000250.2(MPO):c.1780C>T (p.His594Tyr)	LOC106694316, MPO (H594Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202552	NM_000250.2(MPO):c.1367T>C (p.Ile456Thr)	LOC106694316, MPO (I456T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202543	NM_000250.2(MPO):c.1250C>A (p.Thr417Asn)	LOC106694316, MPO (T417N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2607105	NM_000250.2(MPO):c.1738G>A (p.Gly580Arg)	LOC106694316, MPO (G580R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528487	NM_000250.2(MPO):c.1636A>G (p.Ile546Val)	LOC106694316, MPO (I546V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483780	NM_000250.2(MPO):c.1528T>C (p.Phe510Leu)	LOC106694316, MPO (F510L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474160	NM_000250.2(MPO):c.1769G>A (p.Arg590His)	LOC106694316, MPO (R590H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384553	NM_000250.2(MPO):c.1273C>T (p.Arg425Trp)	LOC106694316, MPO (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318830	NM_000250.2(MPO):c.1535T>C (p.Leu512Pro)	LOC106694316, MPO (L512P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278742	NM_000250.2(MPO):c.1471G>A (p.Ala491Thr)	LOC106694316, MPO (A491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995959	NM_000250.2(MPO):c.1783G>A (p.Gly595Ser)	MPO, LOC106694316 (G595S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
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 781309	NM_000250.2(MPO):c.1377C>T (p.Tyr459=)	LOC106694316, MPO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777484	NM_000250.2(MPO):c.1365+7C>G	LOC106694316, MPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 726909	NM_000250.2(MPO):c.1365+7C>T	LOC106694316, MPO	Single nucleotide variant (intron variant)	not provided	GLikely 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 452644	NM_000250.2(MPO):c.1281del (p.Thr428fs)	LOC106694316, MPO (T428fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 452406	NM_000250.2(MPO):c.1621+2T>C	LOC106694316, MPO	Single nucleotide variant (splice donor variant)	not provided	GLikely 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 3634	NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)	MPO, LOC106694316 (G501S)	Single nucleotide variant (missense variant)	Myeloperoxidase deficiency	GPathogenic
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 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 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

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Links from Gene

Items: 26