Mpo Variant Search Result - Rat Genome Database

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131 records found for search term Mpo

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
25327386	CV815804	single nucleotide variant	NM_000250.2(MPO):c.-56C>T	Hereditary angioedema with normal C1Inh [RCV001027426]	not provided	17	58280814	58280814	Human		name
126730009	CV1021667	single nucleotide variant	NM_000250.2(MPO):c.886-2A>G	Myeloperoxidase deficiency [RCV001333310]	pathogenic	17	58278147	58278147	Human		name , alternate_id
405266328	CV3211811	single nucleotide variant	NM_000250.2(MPO):c.248+9C>T	MPO-related disorder [RCV003947101]	likely benign	17	58280357	58280357	Human		name , trait , alternate_id
42722748	CV985355	single nucleotide variant	NM_000250.2(MPO):c.249-2A>G	Myeloperoxidase deficiency [RCV002503272]\|Myeloperoxidase deficiency [RCV003989711]	pathogenic\|likely pathogenic	17	58280016	58280016	Human	1	name , alternate_id
8557557	CV18671	single nucleotide variant	NM_000250.2(MPO):c.2031-2A>C	MPO-related disorder [RCV003398437]\|Myeloperoxidase deficiency [RCV000003816]\|Myeloperoxidase deficiency [RCV002482823]\|not provided [RCV000265536]\|not specified [RCV004689407]	pathogenic\|likely pathogenic\|uncertain significance	17	58270865	58270865	Human	2	name , trait , alternate_id
10042524	CV187129	single nucleotide variant	NM_000250.1(MPO):c.2031-2A>C	Myeloperoxidase deficiency [RCV000169667]	pathogenic	17	58270865	58270865	Human	10	name , alternate_id
10042524	CV187129	single nucleotide variant	NM_000250.1(MPO):c.2031-2A>C	Myeloperoxidase deficiency [RCV000169667]	pathogenic	17	58270865	58270866	Human	10	name , alternate_id
12896381	CV390232	single nucleotide variant	NM_000250.2(MPO):c.2031-6A>C	MPO-related disorder [RCV003972725]\|not provided [RCV004710064]\|not specified [RCV000455269]	benign	17	58270869	58270869	Human	2	name , trait , alternate_id
13472158	CV445834	single nucleotide variant	NM_000250.2(MPO):c.1621+2T>C	not provided [RCV000519053]	likely pathogenic	17	58273412	58273412	Human		name
15150572	CV744983	single nucleotide variant	NM_000250.2(MPO):c.1365+7C>T	not provided [RCV000901183]	likely benign	17	58275535	58275535	Human		name
15202605	CV778287	single nucleotide variant	NM_000250.2(MPO):c.1365+7C>G	not provided [RCV000957967]	benign	17	58275535	58275535	Human		name
15178005	CV715590	single nucleotide variant	NM_000250.2(MPO):c.234G>A (p.Lys78=)	not provided [RCV000973561]	likely benign	17	58280380	58280380	Human		name
401935818	CV2808065	single nucleotide variant	NM_000250.2(MPO):c.696C>T (p.Asn232=)	not provided [RCV003413280]	likely benign	17	58279197	58279197	Human		name
405255917	CV3208388	single nucleotide variant	NM_000250.2(MPO):c.495G>T (p.Val165=)	MPO-related disorder [RCV003939493]	likely benign	17	58279576	58279576	Human		name , trait , alternate_id
405270630	CV3211985	single nucleotide variant	NM_000250.2(MPO):c.47G>A (p.Gly16Glu)	MPO-related disorder [RCV003949387]	likely benign	17	58280712	58280712	Human		name , trait , alternate_id
15186114	CV727316	single nucleotide variant	NM_000250.2(MPO):c.315G>A (p.Pro105=)	not provided [RCV000886886]	likely benign	17	58279948	58279948	Human		name
8636260	CV91484	single nucleotide variant	NM_000250.1(MPO):c.396C>T (p.Ser132=)	Malignant melanoma [RCV000071582]	not provided	17	58279867	58279867	Human		name
156078072	CV2281710	single nucleotide variant	NM_000250.2(MPO):c.224A>G (p.Lys75Arg)	not specified [RCV004147859]	uncertain significance	17	58280390	58280390	Human		name
329354476	CV2448240	single nucleotide variant	NM_000250.2(MPO):c.179C>T (p.Ser60Leu)	not specified [RCV004263442]	uncertain significance	17	58280435	58280435	Human		name
401770555	CV2715223	single nucleotide variant	NM_000250.2(MPO):c.112G>T (p.Ala38Ser)	not specified [RCV004324574]	uncertain significance	17	58280647	58280647	Human		name
401935817	CV2808064	single nucleotide variant	NM_000250.2(MPO):c.1935C>T (p.Gly645=)	not provided [RCV003413279]	likely benign	17	58271750	58271750	Human		name
405293129	CV3207223	single nucleotide variant	NM_000250.2(MPO):c.1951C>T (p.Leu651=)	MPO-related disorder [RCV003931622]	likely benign	17	58271734	58271734	Human		name , trait , alternate_id
405284417	CV3213767	single nucleotide variant	NM_000250.2(MPO):c.1470C>T (p.Ile490=)	MPO-related disorder [RCV003922322]	likely benign	17	58273565	58273565	Human		name , trait , alternate_id
405285698	CV3221563	single nucleotide variant	NM_000250.2(MPO):c.157G>T (p.Val53Phe)	MPO-related disorder [RCV003981288]	benign	17	58280457	58280457	Human	6	name , trait , alternate_id
408375179	CV3510301	duplication	NM_000250.2(MPO):c.604dup (p.Glu202fs)	MPO-related disorder [RCV004747835]	likely pathogenic	17	58279370	58279371	Human		name , trait , alternate_id
598125636	CV3885634	single nucleotide variant	NM_000250.2(MPO):c.1866G>A (p.Arg622=)	not specified [RCV005241147]	likely benign	17	58271819	58271819	Human		name
598226828	CV3895859	duplication	NM_000250.2(MPO):c.817dup (p.Ala273fs)	Myeloperoxidase deficiency [RCV005362147]	likely pathogenic	17	58279075	58279076	Human	1	name , alternate_id
598168373	CV3982497	single nucleotide variant	NM_000250.2(MPO):c.142G>A (p.Gly48Ser)	not specified [RCV005369694]	likely benign	17	58280617	58280617	Human		name
13478352	CV445836	single nucleotide variant	NM_000250.2(MPO):c.110T>C (p.Leu37Pro)	not provided [RCV000520642]	uncertain significance	17	58280649	58280649	Human		name
15201498	CV704253	single nucleotide variant	NM_000250.2(MPO):c.2187C>T (p.Asn729=)	MPO-related disorder [RCV004726743]\|Myeloperoxidase deficiency [RCV002502984]\|not provided [RCV000957639]	benign\|likely benign	17	58270707	58270707	Human	7	name , trait , alternate_id
15201498	CV704253	single nucleotide variant	NM_000250.2(MPO):c.2187C>T (p.Asn729=)	MPO-related disorder [RCV004726743]\|Myeloperoxidase deficiency [RCV002502984]\|not provided [RCV000957639]	benign\|likely benign	17	58270707	58270708	Human	7	name , trait , alternate_id
15175346	CV715588	single nucleotide variant	NM_000250.2(MPO):c.1410G>A (p.Thr470=)	MPO-related disorder [RCV003918515]\|not provided [RCV000972922]	benign\|likely benign	17	58273625	58273625	Human	2	name , trait , alternate_id
15119313	CV715589	single nucleotide variant	NM_000250.2(MPO):c.1377C>T (p.Tyr459=)	not provided [RCV000962528]	benign	17	58273658	58273658	Human		name
15162762	CV727314	single nucleotide variant	NM_000250.2(MPO):c.2133C>T (p.Thr711=)	not provided [RCV000881823]	benign	17	58270761	58270761	Human		name
15175459	CV740903	single nucleotide variant	NM_000250.2(MPO):c.172G>A (p.Asp58Asn)	not provided [RCV000906220]	benign	17	58280442	58280442	Human		name
150546080	CV1313574	single nucleotide variant	NM_000250.2(MPO):c.721C>T (p.Gln241Ter)	MPO-related disorder [RCV003416446]\|Myeloperoxidase deficiency [RCV001784671]	pathogenic\|likely pathogenic	17	58279172	58279172	Human	2	name , trait , alternate_id
150546081	CV1313575	single nucleotide variant	NM_000250.2(MPO):c.403C>T (p.Arg135Ter)	Myeloperoxidase deficiency [RCV001784672]	pathogenic	17	58279860	58279860	Human	1	name , alternate_id
150542896	CV1314999	deletion	NM_000250.2(MPO):c.1404del (p.Pro469fs)	Myeloperoxidase deficiency [RCV001782453]	likely pathogenic	17	58273631	58273631	Human		name , alternate_id
8557552	CV18666	single nucleotide variant	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	Myeloperoxidase deficiency [RCV000003811]\|Myeloperoxidase deficiency [RCV005394112]\|not provided [RCV001701559]	pathogenic\|likely pathogenic\|uncertain significance	17	58279553	58279553	Human	4	name , alternate_id
8557552	CV18666	single nucleotide variant	NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)	Myeloperoxidase deficiency [RCV000003811]\|Myeloperoxidase deficiency [RCV005394112]\|not provided [RCV001701559]	pathogenic\|likely pathogenic\|uncertain significance	17	58279553	58279554	Human	4	name , alternate_id
8557553	CV18667	single nucleotide variant	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	MPO-related disorder [RCV003914802]\|Myeloperoxidase deficiency [RCV000003812]\|not provided [RCV001528671]	pathogenic\|benign\|likely benign\|uncertain significance	17	58279141	58279141	Human	33	name , trait , alternate_id
8557553	CV18667	single nucleotide variant	NM_000250.2(MPO):c.752T>C (p.Met251Thr)	MPO-related disorder [RCV003914802]\|Myeloperoxidase deficiency [RCV000003812]\|not provided [RCV001528671]	pathogenic\|benign\|likely benign\|uncertain significance	17	58279141	58279142	Human	33	name , trait , alternate_id
8557555	CV18669	single nucleotide variant	NM_000250.2(MPO):c.995C>T (p.Ala332Val)	Myeloperoxidase deficiency [RCV000003814]\|not provided [RCV002510767]	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	58278036	58278036	Human	21	name , alternate_id
8557555	CV18669	single nucleotide variant	NM_000250.2(MPO):c.995C>T (p.Ala332Val)	Myeloperoxidase deficiency [RCV000003814]\|not provided [RCV002510767]	pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	58278036	58278037	Human	21	name , alternate_id
156301923	CV2258577	single nucleotide variant	NM_000250.2(MPO):c.608A>C (p.Tyr203Ser)	not specified [RCV004116053]	uncertain significance	17	58279367	58279367	Human		name
156258437	CV2277744	single nucleotide variant	NM_000250.2(MPO):c.815G>A (p.Arg272Gln)	not specified [RCV004147183]	uncertain significance	17	58279078	58279078	Human		name
155990926	CV2281012	single nucleotide variant	NM_000250.2(MPO):c.896A>G (p.Asn299Ser)	not specified [RCV004145505]	uncertain significance	17	58278135	58278135	Human		name
155960517	CV2314039	single nucleotide variant	NM_000250.2(MPO):c.757A>G (p.Met253Val)	not specified [RCV004164322]	uncertain significance	17	58279136	58279136	Human		name
156176182	CV2317399	single nucleotide variant	NM_000250.2(MPO):c.422C>T (p.Thr141Ile)	not specified [RCV004172372]	uncertain significance	17	58279841	58279841	Human		name
156187036	CV2346676	single nucleotide variant	NM_000250.2(MPO):c.856G>T (p.Val286Phe)	not specified [RCV004199696]	uncertain significance	17	58279037	58279037	Human		name
329400164	CV2440700	single nucleotide variant	NM_000250.2(MPO):c.449A>T (p.Asn150Ile)	not specified [RCV004258650]	uncertain significance	17	58279622	58279622	Human		name
329372209	CV2455103	single nucleotide variant	NM_000250.2(MPO):c.314C>T (p.Pro105Leu)	not specified [RCV004272349]	uncertain significance	17	58279949	58279949	Human		name
329377743	CV2462828	single nucleotide variant	NM_000250.2(MPO):c.571T>A (p.Ser191Thr)	not specified [RCV004278733]	uncertain significance	17	58279404	58279404	Human		name
401736301	CV2703102	single nucleotide variant	NM_000250.2(MPO):c.458C>T (p.Ser153Phe)	not specified [RCV004321397]	uncertain significance	17	58279613	58279613	Human		name
401881005	CV2787780	single nucleotide variant	NM_000250.2(MPO):c.731C>T (p.Pro244Leu)	not specified [RCV004356683]	uncertain significance	17	58279162	58279162	Human		name
405727888	CV3355716	single nucleotide variant	NM_000250.2(MPO):c.381G>C (p.Glu127Asp)	not specified [RCV004496012]	uncertain significance	17	58279882	58279882	Human		name
405727975	CV3355726	single nucleotide variant	NM_000250.2(MPO):c.517T>C (p.Tyr173His)	not specified [RCV004496022]	uncertain significance	17	58279554	58279554	Human		name
405728062	CV3355735	single nucleotide variant	NM_000250.2(MPO):c.685G>A (p.Ala229Thr)	not specified [RCV004496031]	uncertain significance	17	58279208	58279208	Human		name
405728089	CV3355738	single nucleotide variant	NM_000250.2(MPO):c.686C>G (p.Ala229Gly)	not specified [RCV004496034]	uncertain significance	17	58279207	58279207	Human		name
405728111	CV3355741	single nucleotide variant	NM_000250.2(MPO):c.814C>T (p.Arg272Trp)	not specified [RCV004496037]	uncertain significance	17	58279079	58279079	Human		name
405728134	CV3355744	single nucleotide variant	NM_000250.2(MPO):c.826G>A (p.Val276Ile)	not specified [RCV004496040]	uncertain significance	17	58279067	58279067	Human		name
405869477	CV3396755	single nucleotide variant	NM_000250.2(MPO):c.402G>A (p.Trp134Ter)	Myeloperoxidase deficiency [RCV004566634]	likely pathogenic	17	58279861	58279861	Human	1	name , alternate_id
407496295	CV3453995	single nucleotide variant	NM_000250.2(MPO):c.490G>A (p.Gly164Arg)	not specified [RCV004643443]	uncertain significance	17	58279581	58279581	Human		name
597661392	CV3564110	single nucleotide variant	NM_000250.2(MPO):c.915C>A (p.Asn305Lys)	not specified [RCV004828502]	uncertain significance	17	58278116	58278116	Human		name
597661426	CV3564114	single nucleotide variant	NM_000250.2(MPO):c.866C>T (p.Pro289Leu)	not specified [RCV004828506]	uncertain significance	17	58279027	58279027	Human		name
598168367	CV3982496	single nucleotide variant	NM_000250.2(MPO):c.487G>A (p.Val163Met)	not specified [RCV005369693]	uncertain significance	17	58279584	58279584	Human		name
598201381	CV4007603	single nucleotide variant	NM_000250.2(MPO):c.450T>G (p.Asn150Lys)	Myeloperoxidase deficiency [RCV005398435]	uncertain significance	17	58279621	58279621	Human	1	name , alternate_id
598201388	CV4007604	single nucleotide variant	NM_000250.2(MPO):c.791A>G (p.Asp264Gly)	Myeloperoxidase deficiency [RCV005398436]	uncertain significance	17	58279102	58279102	Human	1	name , alternate_id
13475322	CV445835	deletion	NM_000250.2(MPO):c.1281del (p.Thr428fs)	Myeloperoxidase deficiency [RCV005356058]\|not provided [RCV000519860]	likely pathogenic	17	58275626	58275626	Human	1	name , alternate_id
13509139	CV482144	single nucleotide variant	NM_000250.2(MPO):c.604G>T (p.Glu202Ter)	Myeloperoxidase deficiency [RCV002483551]\|Myeloperoxidase deficiency [RCV003388920]\|not provided [RCV000578983]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	58279371	58279371	Human	1	name , alternate_id
21075651	CV797581	single nucleotide variant	NM_000250.2(MPO):c.696C>G (p.Asn232Lys)	not provided [RCV000996587]	uncertain significance	17	58279197	58279197	Human		name
8636261	CV91485	single nucleotide variant	NM_000250.1(MPO):c.395C>T (p.Ser132Phe)	Malignant melanoma [RCV000071583]	not provided	17	58279868	58279868	Human		name
126911784	CV1038606	single nucleotide variant	NM_000250.2(MPO):c.2047G>C (p.Glu683Gln)	not provided [RCV001355756]	uncertain significance	17	58270847	58270847	Human		name
8557551	CV18665	single nucleotide variant	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	MPO-related disorder [RCV003415644]\|Myeloperoxidase deficiency [RCV000003810]\|Myeloperoxidase deficiency [RCV002490304]\|not provided [RCV000366635]	pathogenic\|likely pathogenic	17	58272835	58272835	Human	13	name , trait , alternate_id
8557551	CV18665	single nucleotide variant	NM_000250.2(MPO):c.1705C>T (p.Arg569Trp)	MPO-related disorder [RCV003415644]\|Myeloperoxidase deficiency [RCV000003810]\|Myeloperoxidase deficiency [RCV002490304]\|not provided [RCV000366635]	pathogenic\|likely pathogenic	17	58272835	58272836	Human	13	name , trait , alternate_id
8557556	CV18670	single nucleotide variant	NM_000250.2(MPO):c.1715T>G (p.Leu572Trp)	Myeloperoxidase deficiency [RCV000003815]	pathogenic	17	58272825	58272825	Human	1	name , alternate_id
8557559	CV18673	single nucleotide variant	NM_000250.2(MPO):c.1501G>A (p.Gly501Ser)	Myeloperoxidase deficiency [RCV000003819]	pathogenic	17	58273534	58273534	Human	1	name , alternate_id
8557560	CV18674	single nucleotide variant	NM_000250.2(MPO):c.1495C>T (p.Arg499Cys)	MPO-related disorder [RCV003894789]\|Myeloperoxidase deficiency [RCV000003820]	pathogenic\|likely pathogenic	17	58273540	58273540	Human	2	name , trait , alternate_id
155920844	CV2240430	single nucleotide variant	NM_000250.2(MPO):c.1996G>C (p.Gly666Arg)	not specified [RCV004117320]	uncertain significance	17	58271689	58271689	Human		name
156064776	CV2272449	single nucleotide variant	NM_000250.2(MPO):c.1471G>A (p.Ala491Thr)	not specified [RCV004133367]	uncertain significance	17	58273564	58273564	Human		name
156029067	CV2278587	single nucleotide variant	NM_000250.2(MPO):c.1969G>T (p.Val657Leu)	not specified [RCV004133013]	uncertain significance	17	58271716	58271716	Human		name
155962329	CV2285639	single nucleotide variant	NM_000250.2(MPO):c.1039G>A (p.Glu347Lys)	not specified [RCV004141501]	uncertain significance	17	58277992	58277992	Human		name
156147897	CV2307303	single nucleotide variant	NM_000250.2(MPO):c.1535T>C (p.Leu512Pro)	not specified [RCV004165998]	uncertain significance	17	58273500	58273500	Human		name
156356881	CV2318194	single nucleotide variant	NM_000250.2(MPO):c.2182G>T (p.Val728Phe)	not specified [RCV004179379]	uncertain significance	17	58270712	58270712	Human		name
156276631	CV2328059	single nucleotide variant	NM_000250.2(MPO):c.2125A>T (p.Ile709Phe)	not specified [RCV004173184]	uncertain significance	17	58270769	58270769	Human		name
156285666	CV2334865	single nucleotide variant	NM_000250.2(MPO):c.1918A>G (p.Ile640Val)	not specified [RCV004181973]	uncertain significance	17	58271767	58271767	Human		name
156188353	CV2346813	single nucleotide variant	NM_000250.2(MPO):c.1918A>T (p.Ile640Phe)	not specified [RCV004199818]	uncertain significance	17	58271767	58271767	Human		name
156051637	CV2363230	single nucleotide variant	NM_000250.2(MPO):c.1181C>T (p.Ala394Val)	not specified [RCV004213795]	likely benign	17	58277850	58277850	Human		name
156346823	CV2382800	single nucleotide variant	NM_000250.2(MPO):c.1273C>T (p.Arg425Trp)	not specified [RCV004224139]	uncertain significance	17	58275634	58275634	Human		name
329401235	CV2442226	single nucleotide variant	NM_000250.2(MPO):c.1769G>A (p.Arg590His)	not specified [RCV004264716]	uncertain significance	17	58272771	58272771	Human		name
329396723	CV2458977	single nucleotide variant	NM_000250.2(MPO):c.1528T>C (p.Phe510Leu)	not specified [RCV004272464]	uncertain significance	17	58273507	58273507	Human		name
401729023	CV2673125	single nucleotide variant	NM_000250.2(MPO):c.1973G>A (p.Gly658Asp)	not specified [RCV004284108]	uncertain significance	17	58271712	58271712	Human		name
401744524	CV2688181	single nucleotide variant	NM_000250.2(MPO):c.1636A>G (p.Ile546Val)	not specified [RCV004305224]	uncertain significance	17	58272904	58272904	Human		name
401891804	CV2779455	single nucleotide variant	NM_000250.2(MPO):c.1738G>A (p.Gly580Arg)	not specified [RCV004351090]	uncertain significance	17	58272802	58272802	Human		name
401917758	CV2795147	single nucleotide variant	NM_000250.2(MPO):c.1711C>T (p.Arg571Ter)	Myeloperoxidase deficiency [RCV003388922]	likely pathogenic	17	58272829	58272829	Human	1	name , alternate_id
404977481	CV2850479	single nucleotide variant	NM_000250.2(MPO):c.1643G>A (p.Arg548Gln)	Myeloperoxidase deficiency [RCV003486157]	uncertain significance	17	58272897	58272897	Human	1	name , alternate_id
405289735	CV3219709	single nucleotide variant	NM_000250.2(MPO):c.1924A>C (p.Ile642Leu)	MPO-related disorder [RCV003961964]	likely benign	17	58271761	58271761	Human		name , trait , alternate_id
405727262	CV3359607	single nucleotide variant	NM_000250.2(MPO):c.1250C>A (p.Thr417Asn)	not specified [RCV004495939]	uncertain significance	17	58275657	58275657	Human		name
405727341	CV3359616	single nucleotide variant	NM_000250.2(MPO):c.1367T>C (p.Ile456Thr)	not specified [RCV004495948]	uncertain significance	17	58273668	58273668	Human		name
405727588	CV3359644	single nucleotide variant	NM_000250.2(MPO):c.1780C>T (p.His594Tyr)	not specified [RCV004495976]	uncertain significance	17	58272760	58272760	Human		name
405727636	CV3359650	single nucleotide variant	NM_000250.2(MPO):c.1815C>A (p.Phe605Leu)	not specified [RCV004495982]	uncertain significance	17	58271870	58271870	Human		name
405727753	CV3359663	single nucleotide variant	NM_000250.2(MPO):c.1984G>A (p.Ala662Thr)	not specified [RCV004495995]	uncertain significance	17	58271701	58271701	Human		name
405727790	CV3359668	single nucleotide variant	NM_000250.2(MPO):c.2113G>A (p.Asp705Asn)	not specified [RCV004496000]	uncertain significance	17	58270781	58270781	Human		name
405871708	CV3398029	single nucleotide variant	NM_000250.2(MPO):c.1642C>T (p.Arg548Trp)	not provided [RCV004575029]	uncertain significance	17	58272898	58272898	Human		name
407496298	CV3453996	single nucleotide variant	NM_000250.2(MPO):c.1936G>A (p.Gly646Ser)	not specified [RCV004643444]	uncertain significance	17	58271749	58271749	Human		name
407496302	CV3453997	single nucleotide variant	NM_000250.2(MPO):c.1477G>A (p.Val493Ile)	not specified [RCV004643445]	uncertain significance	17	58273558	58273558	Human		name
407496306	CV3453998	single nucleotide variant	NM_000250.2(MPO):c.2134G>A (p.Val712Met)	not specified [RCV004643446]	uncertain significance	17	58270760	58270760	Human		name
408393801	CV3526218	single nucleotide variant	NM_000250.2(MPO):c.2072G>A (p.Arg691Gln)	Alzheimer disease type 1 [RCV004771650]\|not specified [RCV005419785]	uncertain significance	17	58270822	58270822	Human	1	name
597661383	CV3564108	single nucleotide variant	NM_000250.2(MPO):c.1039G>C (p.Glu347Gln)	not specified [RCV004828501]	uncertain significance	17	58277992	58277992	Human		name
597661402	CV3564111	single nucleotide variant	NM_000250.2(MPO):c.2174G>A (p.Arg725Gln)	not specified [RCV004828503]	uncertain significance	17	58270720	58270720	Human		name
597661410	CV3564112	single nucleotide variant	NM_000250.2(MPO):c.1115A>G (p.Asn372Ser)	not specified [RCV004828504]	uncertain significance	17	58277916	58277916	Human		name
597661416	CV3564113	single nucleotide variant	NM_000250.2(MPO):c.1496G>A (p.Arg499His)	not specified [RCV004828505]	uncertain significance	17	58273539	58273539	Human		name
597661437	CV3564115	single nucleotide variant	NM_000250.2(MPO):c.1848G>T (p.Gln616His)	not specified [RCV004828507]	uncertain significance	17	58271837	58271837	Human		name
598201608	CV3982492	single nucleotide variant	NM_000250.2(MPO):c.1214G>A (p.Arg405His)	not specified [RCV005376065]	uncertain significance	17	58275693	58275693	Human		name
598168356	CV3982493	single nucleotide variant	NM_000250.2(MPO):c.2147A>T (p.Asn716Ile)	not specified [RCV005369691]	uncertain significance	17	58270747	58270747	Human		name
598168362	CV3982494	single nucleotide variant	NM_000250.2(MPO):c.1609G>A (p.Val537Ile)	not specified [RCV005369692]	uncertain significance	17	58273426	58273426	Human		name
598168378	CV3982498	single nucleotide variant	NM_000250.2(MPO):c.1676G>A (p.Arg559His)	not specified [RCV005369695]	uncertain significance	17	58272864	58272864	Human		name
598168383	CV3982499	single nucleotide variant	NM_000250.2(MPO):c.1771A>C (p.Ser591Arg)	not specified [RCV005369696]	uncertain significance	17	58272769	58272769	Human		name
598168388	CV3982500	single nucleotide variant	NM_000250.2(MPO):c.1721A>C (p.Glu574Ala)	not specified [RCV005369697]	uncertain significance	17	58272819	58272819	Human		name
598168393	CV3982501	single nucleotide variant	NM_000250.2(MPO):c.1739G>C (p.Gly580Ala)	not specified [RCV005369698]	uncertain significance	17	58272801	58272801	Human		name
15200756	CV727315	single nucleotide variant	NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)	MPO-related disorder [RCV003930791]\|not provided [RCV000890999]	likely benign\|conflicting interpretations of pathogenicity	17	58273656	58273656	Human	7	name , trait , alternate_id
15200756	CV727315	single nucleotide variant	NM_000250.2(MPO):c.1379G>A (p.Arg460Gln)	MPO-related disorder [RCV003930791]\|not provided [RCV000890999]	likely benign\|conflicting interpretations of pathogenicity	17	58273656	58273657	Human	7	name , trait , alternate_id
15151271	CV740902	single nucleotide variant	NM_000250.2(MPO):c.1810C>T (p.Arg604Cys)	not provided [RCV000901330]	likely benign	17	58271875	58271875	Human		name
38462334	CV919751	single nucleotide variant	NM_000250.2(MPO):c.1031G>A (p.Gly344Asp)	Alzheimer disease [RCV001198130]	uncertain significance	17	58278000	58278000	Human	2	name
41407845	CV983660	single nucleotide variant	NM_000250.2(MPO):c.1783G>A (p.Gly595Ser)	Myeloperoxidase deficiency [RCV001290209]	pathogenic	17	58272757	58272757	Human	1	name , alternate_id
126730578	CV1001024	microsatellite	NM_000250.2(MPO):c.308AGC[1] (p.Gln104del)	not provided [RCV001310373]	uncertain significance	17	58279950	58279952	Human		name
616935030	CV4009252	deletion	NM_000250.2(MPO):c.760_764del (p.Gln254fs)	not provided [RCV005402424]	likely pathogenic	17	58279129	58279133	Human		name
8557554	CV18668	deletion	NM_000250.2(MPO):c.1555_1568del (p.Met519fs)	MPO-related disorder [RCV003952340]\|Myeloperoxidase deficiency [RCV000003813]\|not provided [RCV000274466]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	17	58273467	58273480	Human	2	name , trait , alternate_id
598207993	CV4007605	deletion	NM_000250.2(MPO):c.793_798del (p.Phe265_Thr266del)	Myeloperoxidase deficiency [RCV005399917]	uncertain significance	17	58279095	58279100	Human	1	name , alternate_id
408365144	CV3499745	deletion	NM_001042492.3(NF1):c.5907_5910del (p.Arg1970fs)	Neurofibromatosis, familial spinal [RCV004720558]	pathogenic\|likely pathogenic	17	31334931	31334934	Human	2	alternate_id
408365161	CV3499775	single nucleotide variant	NM_000237.3(LPL):c.827T>C (p.Ile276Thr)	Hyperlipidemia, familial combined, LPL related [RCV004720575]	pathogenic\|likely pathogenic	8	19955892	19955892	Human	3	alternate_id

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