Epo Variant Search Result - Rat Genome Database

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218 records found for search term Epo

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
617153997	CV4022158	single nucleotide variant	EPO, IVS1, T-C, -28	ERYTHROCYTOSIS 5 [RCV005429516]	pathogenic				Human		name
617153998	CV4022159	single nucleotide variant	EPO, IVS1, A-G, -26	ERYTHROCYTOSIS 5 [RCV005429517]	pathogenic				Human		name
617153996	CV4022157	single nucleotide variant	EPO, -252C-T, PROMOTER	ERYTHROCYTOSIS 5 [RCV005429515]	pathogenic				Human		name
405283613	CV3217184	deletion	NM_000799.4(EPO):c.*8del	EPO-related disorder [RCV003979280]	likely benign	7	100723141	100723141	Human		name , trait , alternate_id
243059050	CV2409927	single nucleotide variant	NM_000799.4(EPO):c.14-1G>C	not provided [RCV003147101]	uncertain significance	7	100721557	100721557	Human		name
405007367	CV2853119	single nucleotide variant	NM_000799.4(EPO):c.-203C>A	not specified [RCV003494313]	uncertain significance	7	100720778	100720778	Human		name
408366645	CV3512588	single nucleotide variant	NM_000799.4(EPO):c.-136G>A	EPO-related disorder [RCV004756857]	uncertain significance	7	100720845	100720845	Human		name , trait , alternate_id
15106730	CV759615	single nucleotide variant	NM_000799.4(EPO):c.13+10C>T	EPO-related disorder [RCV003950822]\|not provided [RCV000915810]	benign\|likely benign	7	100721003	100721003	Human		name , trait , alternate_id
15103459	CV775261	single nucleotide variant	NM_000799.4(EPO):c.427-9C>T	not provided [RCV000937201]	likely benign	7	100722969	100722969	Human		name
150450223	CV1232653	single nucleotide variant	NM_000799.4(EPO):c.247-66G>A	not provided [RCV001647728]	benign	7	100722598	100722598	Human		name
150456890	CV1260069	deletion	NM_000799.4(EPO):c.246+24del	not provided [RCV001681549]	benign	7	100722058	100722058	Human		name
150481247	CV1239744	single nucleotide variant	NM_000799.4(EPO):c.247-136C>T	not provided [RCV001652907]	benign	7	100722528	100722528	Human		name
405278964	CV3220564	deletion	NM_000799.4(EPO):c.-152_-131del	EPO-related disorder [RCV003976738]\|not provided [RCV004790649]	likely benign\|uncertain significance	7	100720819	100720840	Human		name , trait , alternate_id
405294952	CV3214997	single nucleotide variant	NM_000799.4(EPO):c.9G>A (p.Val3=)	EPO-related disorder [RCV003936849]	likely benign	7	100720989	100720989	Human		name , trait , alternate_id
13517716	CV488086	deletion	NM_000799.4(EPO):c.20del (p.Pro7fs)	Erythrocytosis, familial, 5 [RCV000590862]	pathogenic	7	100721563	100721563	Human	1	name
15195761	CV722193	single nucleotide variant	NM_000799.4(EPO):c.54G>A (p.Ser18=)	EPO-related disorder [RCV004756074]\|not provided [RCV000889593]	benign	7	100721598	100721598	Human		name , trait , alternate_id
155976313	CV2231652	single nucleotide variant	NM_000799.4(EPO):c.16T>C (p.Cys6Arg)	not specified [RCV004098220]	uncertain significance	7	100721560	100721560	Human		name
401921074	CV2804280	single nucleotide variant	NM_000799.4(EPO):c.19C>T (p.Pro7Ser)	EPO-related disorder [RCV003402707]	uncertain significance	7	100721563	100721563	Human		name , trait , alternate_id
13517712	CV488085	deletion	NM_000799.4(EPO):c.33del (p.Trp11fs)	Erythrocytosis, familial, 5 [RCV000590858]	pathogenic	7	100721576	100721576	Human	1	name
15125796	CV710659	single nucleotide variant	NM_000799.4(EPO):c.108C>T (p.Ser36=)	not provided [RCV000963639]	benign	7	100721652	100721652	Human		name
15122258	CV710660	single nucleotide variant	NM_000799.4(EPO):c.171T>C (p.Ala57=)	not provided [RCV000963042]	likely benign	7	100721973	100721973	Human		name
15195873	CV722195	single nucleotide variant	NM_000799.4(EPO):c.237G>A (p.Lys79=)	EPO-related disorder [RCV004756075]\|not provided [RCV000889625]	benign	7	100722039	100722039	Human		name , trait , alternate_id
15188079	CV735827	single nucleotide variant	NM_000799.4(EPO):c.261C>T (p.Ala87=)	not provided [RCV000909265]	likely benign	7	100722678	100722678	Human		name
15122308	CV782696	single nucleotide variant	NM_000799.4(EPO):c.147C>G (p.Ala49=)	not provided [RCV000979623]	likely benign	7	100721691	100721691	Human		name
150454857	CV1220360	deletion	NM_000799.4(EPO):c.247-142_247-136del	not provided [RCV001612453]	benign	7	100722522	100722528	Human		name
156377033	CV2206938	single nucleotide variant	NM_000799.4(EPO):c.82G>A (p.Ala28Thr)	not specified [RCV004083601]	uncertain significance	7	100721626	100721626	Human		name
405271332	CV3202774	single nucleotide variant	NM_000799.4(EPO):c.348G>A (p.Glu116=)	EPO-related disorder [RCV003913844]	likely benign	7	100722765	100722765	Human		name , trait , alternate_id
596945709	CV3548029	single nucleotide variant	NM_000799.4(EPO):c.483T>C (p.Thr161=)	not provided [RCV004809360]	likely benign	7	100723034	100723034	Human		name
15130703	CV710661	single nucleotide variant	NM_000799.4(EPO):c.453G>A (p.Ala151=)	not provided [RCV000964479]	benign	7	100723004	100723004	Human		name
15111818	CV750296	single nucleotide variant	NM_000799.4(EPO):c.459A>G (p.Ser153=)	not provided [RCV000916800]	likely benign	7	100723010	100723010	Human		name
156261157	CV2314696	single nucleotide variant	NM_000799.4(EPO):c.175C>T (p.His59Tyr)	not specified [RCV004170846]	uncertain significance	7	100721977	100721977	Human		name
243059046	CV2409926	single nucleotide variant	NM_000799.4(EPO):c.286C>G (p.Leu96Val)	not provided [RCV003147100]	uncertain significance	7	100722703	100722703	Human		name
329393908	CV2472201	single nucleotide variant	NM_000799.4(EPO):c.226T>C (p.Tyr76His)	not specified [RCV004283319]	uncertain significance	7	100722028	100722028	Human		name
407492017	CV3431783	single nucleotide variant	NM_000799.4(EPO):c.262G>A (p.Val88Ile)	not specified [RCV004620652]	uncertain significance	7	100722679	100722679	Human		name
598169496	CV3965438	single nucleotide variant	NM_000799.4(EPO):c.265G>C (p.Glu89Gln)	not specified [RCV005330446]	uncertain significance	7	100722682	100722682	Human		name
15190344	CV722194	single nucleotide variant	NM_000799.4(EPO):c.208G>A (p.Asp70Asn)	EPO-related disorder [RCV003940594]\|not provided [RCV000888072]	likely benign	7	100722010	100722010	Human	19	name , trait , alternate_id
15190344	CV722194	single nucleotide variant	NM_000799.4(EPO):c.208G>A (p.Asp70Asn)	EPO-related disorder [RCV003940594]\|not provided [RCV000888072]	likely benign	7	100722010	100722011	Human	19	name , trait , alternate_id
15200962	CV722196	single nucleotide variant	NM_000799.4(EPO):c.250G>A (p.Gly84Arg)	not provided [RCV000891058]	likely benign\|conflicting interpretations of pathogenicity	7	100722667	100722667	Human		name
156246146	CV2347292	single nucleotide variant	NM_000799.4(EPO):c.559G>T (p.Ala187Ser)	not specified [RCV004206771]	uncertain significance	7	100723110	100723110	Human		name
156175076	CV2377217	single nucleotide variant	NM_000799.4(EPO):c.521A>G (p.Asn174Ser)	EPO-related disorder [RCV004756484]\|not specified [RCV004231884]	uncertain significance	7	100723072	100723072	Human		name , trait , alternate_id
401896650	CV2782326	single nucleotide variant	NM_000799.4(EPO):c.569C>T (p.Thr190Ile)	not specified [RCV004352970]	uncertain significance	7	100723120	100723120	Human		name
401908896	CV2825954	single nucleotide variant	NM_000799.4(EPO):c.409C>T (p.Arg137Trp)	not provided [RCV003423678]	uncertain significance	7	100722826	100722826	Human		name
405273556	CV3198079	single nucleotide variant	NM_000799.4(EPO):c.439T>C (p.Ser147Pro)	EPO-related disorder [RCV003901849]	uncertain significance	7	100722990	100722990	Human		name , trait , alternate_id
405722143	CV3249126	single nucleotide variant	NM_000799.4(EPO):c.466C>G (p.Pro156Ala)	not specified [RCV004378131]	uncertain significance	7	100723017	100723017	Human		name
407492012	CV3431782	single nucleotide variant	NM_000799.4(EPO):c.461C>G (p.Ala154Gly)	not specified [RCV004620651]	uncertain significance	7	100723012	100723012	Human		name
407492021	CV3431784	single nucleotide variant	NM_000799.4(EPO):c.479T>C (p.Ile160Thr)	not specified [RCV004620653]	uncertain significance	7	100723030	100723030	Human		name
408366614	CV3512930	single nucleotide variant	NM_000799.4(EPO):c.410G>A (p.Arg137Gln)	EPO-related disorder [RCV004756871]	uncertain significance	7	100722827	100722827	Human		name , trait , alternate_id
597804019	CV3671222	single nucleotide variant	NM_000799.4(EPO):c.401C>T (p.Thr134Ile)	not specified [RCV004907410]	uncertain significance	7	100722818	100722818	Human		name
598169492	CV3965437	single nucleotide variant	NM_000799.4(EPO):c.389G>T (p.Arg130Leu)	not specified [RCV005330445]	uncertain significance	7	100722806	100722806	Human		name
13517708	CV488087	single nucleotide variant	NM_000799.4(EPO):c.530G>A (p.Arg177Gln)	Diamond-Blackfan anemia-like [RCV000590853]	pathogenic	7	100723081	100723081	Human	1	name
15187953	CV699699	single nucleotide variant	NM_000799.4(EPO):c.341C>T (p.Pro114Leu)	not provided [RCV000953740]	benign\|likely benign	7	100722758	100722758	Human	1	name
15187953	CV699699	single nucleotide variant	NM_000799.4(EPO):c.341C>T (p.Pro114Leu)	not provided [RCV000953740]	benign\|likely benign	7	100722758	100722759	Human	1	name
15195876	CV722197	single nucleotide variant	NM_000799.4(EPO):c.496C>T (p.Arg166Cys)	EPO-related disorder [RCV004756076]\|not provided [RCV000889626]	likely benign	7	100723047	100723047	Human		name , trait , alternate_id
8564378	CV29701	single nucleotide variant	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	Acquired polycythemia vera [RCV000015769]\|Acute myeloid leukemia [RCV000015771]\|Budd-Chiari syndrome, susceptibility to, somatic [RCV000015772]\|JAK2-related disorder [RCV004751211]\|Myeloproliferative disorder [RCV000427081]\|Polycythemia [RCV001003804]\|Primary familial polycythemia due to EPO ... (more) ='font-weight:700;'>EPO receptor mutation [RCV000022628]\|Primary familial polycythemia due to EPO receptor mutation [RCV000763621]\|Primary myelofibrosis [RCV000015770]\|Primary myelofibrosis [RCV001003803]\|Thrombocythemia 3 [RCV000022627]\|not provided [RCV001092995]	pathogenic\|likely pathogenic\|risk factor\|affects\|conflicting interpretations of pathogenicity\|other\|not provided	9	5073770	5073770	Human	26	trait
8564378	CV29701	single nucleotide variant	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	Acquired polycythemia vera [RCV000015769]\|Acute myeloid leukemia [RCV000015771]\|Budd-Chiari syndrome, susceptibility to, somatic [RCV000015772]\|JAK2-related disorder [RCV004751211]\|Myeloproliferative disorder [RCV000427081]\|Polycythemia [RCV001003804]\|Primary familial polycythemia due to EPO ... (more) ='font-weight:700;'>EPO receptor mutation [RCV000022628]\|Primary familial polycythemia due to EPO receptor mutation [RCV000763621]\|Primary myelofibrosis [RCV000015770]\|Primary myelofibrosis [RCV001003803]\|Thrombocythemia 3 [RCV000022627]\|not provided [RCV001092995]	pathogenic\|likely pathogenic\|risk factor\|affects\|conflicting interpretations of pathogenicity\|other\|not provided	9	5073770	5073771	Human	26	trait
14395610	CV611368	single nucleotide variant	NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	Primary familial polycythemia due to EPO receptor mutation [RCV000760171]\|Primary familial polycythemia due to EPO receptor mutation [RCV005010757]\|Thrombocythemia 1 [RCV000760174]\|not provided [RCV004792431]	pathogenic\|likely pathogenic\|uncertain significance	12	111447491	111447491	Human	9	trait
14395610	CV611368	single nucleotide variant	NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	Primary familial polycythemia due to EPO receptor mutation [RCV000760171]\|Primary familial polycythemia due to EPO receptor mutation [RCV005010757]\|Thrombocythemia 1 [RCV000760174]\|not provided [RCV004792431]	pathogenic\|likely pathogenic\|uncertain significance	12	111447491	111447492	Human	9	trait
11653664	CV342732	single nucleotide variant	NM_000121.4(EPOR):c.-8G>T	Primary familial polycythemia due to EPO receptor mutation [RCV000312557]	uncertain significance	19	11384215	11384215	Human	2	name , trait
28898322	CV879883	single nucleotide variant	NM_000121.4(EPOR):c.-9G>A	Primary familial polycythemia due to EPO receptor mutation [RCV001123537]	uncertain significance	19	11384216	11384216	Human	2	name , trait
11625929	CV332503	single nucleotide variant	NM_000121.4(EPOR):c.*35G>A	Primary familial polycythemia due to EPO receptor mutation [RCV000404492]\|not provided [RCV004717202]	benign\|likely benign	19	11377949	11377949	Human	2	name , trait
11660199	CV348086	single nucleotide variant	NM_000121.4(EPOR):c.-68G>A	Primary familial polycythemia due to EPO receptor mutation [RCV000364845]	uncertain significance	19	11384275	11384275	Human	2	name , trait
28907381	CV879870	single nucleotide variant	NM_000121.4(EPOR):c.*32T>C	Primary familial polycythemia due to EPO receptor mutation [RCV001127549]	benign	19	11377952	11377952	Human	2	name , trait
28901062	CV879884	single nucleotide variant	NM_000121.4(EPOR):c.-25G>A	Primary familial polycythemia due to EPO receptor mutation [RCV001124618]	uncertain significance	19	11384232	11384232	Human	2	name , trait
28901065	CV879885	single nucleotide variant	NM_000121.4(EPOR):c.-55G>A	Primary familial polycythemia due to EPO receptor mutation [RCV001124619]\|not provided [RCV004717745]	benign	19	11384262	11384262	Human	2	name , trait
11619891	CV332494	single nucleotide variant	NM_000121.4(EPOR):c.*684C>A	Primary familial polycythemia due to EPO receptor mutation [RCV000330787]	benign\|likely benign	19	11377300	11377300	Human	2	name , trait
11624214	CV332495	single nucleotide variant	NM_000121.4(EPOR):c.*670G>A	Primary familial polycythemia due to EPO receptor mutation [RCV000383058]	benign\|likely benign	19	11377314	11377314	Human	2	name , trait
11650180	CV332497	single nucleotide variant	NM_000121.4(EPOR):c.*619C>T	Primary familial polycythemia due to EPO receptor mutation [RCV000291105]	uncertain significance	19	11377365	11377365	Human	2	name , trait
11624192	CV332499	single nucleotide variant	NM_000121.4(EPOR):c.*504G>A	Primary familial polycythemia due to EPO receptor mutation [RCV000382789]	benign\|likely benign	19	11377480	11377480	Human	2	name , trait
11625114	CV342733	single nucleotide variant	NM_000121.3(EPOR):c.-133T>G	Familial erythrocytosis [RCV000394759]\|not provided [RCV004703759]	likely benign	19	11384340	11384340	Human	1	name
11630247	CV349347	single nucleotide variant	NM_000121.4(EPOR):c.*577A>G	Primary familial polycythemia due to EPO receptor mutation [RCV000344568]	benign\|likely benign	19	11377407	11377407	Human	2	name , trait
11627664	CV349349	single nucleotide variant	NM_000121.4(EPOR):c.*425C>T	Primary familial polycythemia due to EPO receptor mutation [RCV000285969]	benign\|likely benign	19	11377559	11377559	Human	2	name , trait
28902983	CV879869	single nucleotide variant	NM_000121.4(EPOR):c.*776A>G	Primary familial polycythemia due to EPO receptor mutation [RCV001125441]	uncertain significance	19	11377208	11377208	Human	2	name , trait
11630545	CV348085	single nucleotide variant	NM_000121.4(EPOR):c.115+7A>G	Primary familial polycythemia due to EPO receptor mutation [RCV000352025]\|not provided [RCV004717203]	benign\|likely benign	19	11384086	11384086	Human	2	name , trait
28907517	CV880689	single nucleotide variant	NM_000121.4(EPOR):c.251+7C>A	Primary familial polycythemia due to EPO receptor mutation [RCV001127636]	benign	19	11383090	11383090	Human	2	name , trait
38458519	CV918441	single nucleotide variant	NM_000121.4(EPOR):c.586-1G>A	not specified [RCV001195234]	uncertain significance	19	11381210	11381210	Human		name
405156869	CV2960830	single nucleotide variant	NM_000121.4(EPOR):c.428-10A>T	not provided [RCV003670392]	likely benign	19	11381859	11381859	Human		name
597868615	CV3749687	single nucleotide variant	NM_000121.4(EPOR):c.252-15T>C	not provided [RCV005068368]	likely benign	19	11382120	11382120	Human		name
28898316	CV880690	single nucleotide variant	NM_000121.4(EPOR):c.116-10C>T	Primary familial polycythemia due to EPO receptor mutation [RCV001123535]	uncertain significance	19	11383242	11383242	Human	2	name , trait
150332037	CV1169802	single nucleotide variant	NM_000121.4(EPOR):c.252-261A>T	not provided [RCV001536728]	benign	19	11382366	11382366	Human		name
150450129	CV1215205	deletion	NM_000121.4(EPOR):c.252-257del	not provided [RCV001611795]	benign	19	11382362	11382362	Human		name
150465948	CV1240327	duplication	NM_000121.4(EPOR):c.252-275dup	not provided [RCV001650088]	benign	19	11382361	11382362	Human		name
11635423	CV342710	duplication	NM_000121.4(EPOR):c.186_187dup	Familial erythrocytosis [RCV000343333]	uncertain significance	19	11377796	11377797	Human	1	name
152983373	CV1678191	single nucleotide variant	NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	Primary familial polycythemia due to EPO receptor mutation [RCV002250348]	pathogenic	12	111418146	111418146	Human	2	trait
401920203	CV2795053	single nucleotide variant	NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)	Primary familial polycythemia due to EPO receptor mutation [RCV003388799]	uncertain significance	19	11378149	11378149	Human	2	name , trait
405068844	CV3081366	single nucleotide variant	NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)	Primary familial polycythemia due to EPO receptor mutation [RCV003632975]	uncertain significance	19	11381778	11381778	Human	2	name , trait
405068862	CV3081497	single nucleotide variant	NM_000121.4(EPOR):c.957C>G (p.Pro319=)	Primary familial polycythemia due to EPO receptor mutation [RCV003632977]	likely benign	19	11378554	11378554	Human	2	name , trait
8565704	CV31634	single nucleotide variant	NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)	Primary familial polycythemia due to EPO receptor mutation [RCV000018065]	pathogenic\|affects	19	11378194	11378194	Human	2	name , trait
8565705	CV31635	duplication	NM_000121.4(EPOR):c.1288dup (p.Asp430fs)	Primary familial polycythemia due to EPO receptor mutation [RCV000018066]	pathogenic\|affects	19	11378222	11378223	Human	2	name , trait
8565706	CV31636	duplication	NM_000121.4(EPOR):c.1281dup (p.Ile428fs)	Primary familial polycythemia due to EPO receptor mutation [RCV000018067]	pathogenic\|affects	19	11378229	11378230	Human	2	name , trait
8565708	CV31638	microsatellite	NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs)	Primary familial polycythemia due to EPO receptor mutation [RCV000018070]	pathogenic\|affects	19	11378206	11378212	Human		name , trait
8565709	CV31639	single nucleotide variant	NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter)	Primary familial polycythemia due to EPO receptor mutation [RCV000018071]	pathogenic\|affects	19	11378233	11378233	Human	2	name , trait
8565710	CV31640	duplication	NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs)	Primary familial polycythemia due to EPO receptor mutation [RCV000018072]	pathogenic\|affects	19	11378221	11378222	Human	2	name , trait
405855205	CV3393967	single nucleotide variant	NM_004972.4(JAK2):c.1414A>G (p.Ser472Gly)	Primary familial polycythemia due to EPO receptor mutation [RCV004547193]	uncertain significance	9	5069109	5069109	Human	2	trait
11621993	CV342718	single nucleotide variant	NM_000121.4(EPOR):c.1427C>T (p.Ala476Val)	Primary familial polycythemia due to EPO receptor mutation [RCV000354688]	benign\|likely benign	19	11378084	11378084	Human	2	name , trait
11655057	CV342721	single nucleotide variant	NM_000121.4(EPOR):c.864C>T (p.Ser288=)	Primary familial polycythemia due to EPO receptor mutation [RCV000322715]	uncertain significance	19	11378742	11378742	Human	2	name , trait
11615161	CV342723	single nucleotide variant	NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)	Primary familial polycythemia due to EPO receptor mutation [RCV000283000]	uncertain significance	19	11381199	11381199	Human	2	name , trait
11626852	CV348067	single nucleotide variant	NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)	Primary familial polycythemia due to EPO receptor mutation [RCV000270040]	uncertain significance	19	11378531	11378531	Human	2	name , trait
11629858	CV348076	single nucleotide variant	NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	Primary familial polycythemia due to EPO receptor mutation [RCV000334415]	likely benign\|uncertain significance	19	11383133	11383133	Human	2	name , trait
11628206	CV349350	single nucleotide variant	NM_000121.4(EPOR):c.1428C>T (p.Ala476=)	Primary familial polycythemia due to EPO receptor mutation [RCV000297430]	likely benign	19	11378083	11378083	Human	2	name , trait
11631686	CV349352	single nucleotide variant	NM_000121.4(EPOR):c.1022C>T (p.Thr341Met)	Primary familial polycythemia due to EPO receptor mutation [RCV000385042]	likely benign\|uncertain significance	19	11378489	11378489	Human	2	name , trait
11629366	CV349356	single nucleotide variant	NM_000121.4(EPOR):c.568G>T (p.Ala190Ser)	Primary familial polycythemia due to EPO receptor mutation [RCV000321418]	benign\|likely benign	19	11381709	11381709	Human	2	name , trait
597685158	CV3707170	single nucleotide variant	NM_005475.3(SH2B3):c.1696C>T (p.Arg566Trp)	Primary familial polycythemia due to EPO receptor mutation [RCV005006805]	uncertain significance	12	111448270	111448270	Human	4	trait
597710548	CV3723327	single nucleotide variant	NM_004972.4(JAK2):c.2768G>T (p.Arg923Leu)	Primary familial polycythemia due to EPO receptor mutation [RCV005048498]	uncertain significance	9	5090452	5090452	Human	9	trait
598128118	CV3883137	single nucleotide variant	NM_000121.4(EPOR):c.595C>T (p.Leu199=)	Primary familial polycythemia due to EPO receptor mutation [RCV005234670]	likely benign	19	11381200	11381200	Human	2	name , trait
8602217	CV39403	single nucleotide variant	NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter)	Primary familial polycythemia due to EPO receptor mutation [RCV000023399]	pathogenic\|affects\|other	12	111418767	111418767	Human	2	trait
598212085	CV4009005	single nucleotide variant	NM_000121.4(EPOR):c.1291C>A (p.Pro431Thr)	Primary familial polycythemia due to EPO receptor mutation [RCV005400618]	uncertain significance	19	11378220	11378220	Human	2	name , trait
598212118	CV4009009	single nucleotide variant	NM_000121.4(EPOR):c.1439T>C (p.Leu480Ser)	Primary familial polycythemia due to EPO receptor mutation [RCV005400622]	uncertain significance	19	11378072	11378072	Human	2	name , trait
616938629	CV4015087	single nucleotide variant	NM_000121.4(EPOR):c.950G>A (p.Trp317Ter)	Primary familial polycythemia due to EPO receptor mutation [RCV005412104]	likely pathogenic	19	11378561	11378561	Human	2	name , trait
28898058	CV879871	single nucleotide variant	NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)	Primary familial polycythemia due to EPO receptor mutation [RCV001123432]	uncertain significance	19	11378044	11378044	Human	2	name , trait
28898064	CV879872	single nucleotide variant	NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro)	Primary familial polycythemia due to EPO receptor mutation [RCV001123433]	likely benign	19	11378055	11378055	Human	2	name , trait
28900857	CV879873	single nucleotide variant	NM_000121.4(EPOR):c.1287G>A (p.Leu429=)	Primary familial polycythemia due to EPO receptor mutation [RCV001124527]	uncertain significance	19	11378224	11378224	Human	2	name , trait
28900860	CV879874	single nucleotide variant	NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)	Primary familial polycythemia due to EPO receptor mutation [RCV001124528]	uncertain significance	19	11378705	11378705	Human	2	name , trait
28903204	CV879875	single nucleotide variant	NM_000121.4(EPOR):c.861G>A (p.Pro287=)	Primary familial polycythemia due to EPO receptor mutation [RCV001125535]	uncertain significance	19	11378745	11378745	Human	2	name , trait
28903207	CV879876	single nucleotide variant	NM_000121.4(EPOR):c.663C>T (p.Arg221=)	Primary familial polycythemia due to EPO receptor mutation [RCV001125536]	uncertain significance	19	11381132	11381132	Human	2	name , trait
28903214	CV879878	single nucleotide variant	NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)	Primary familial polycythemia due to EPO receptor mutation [RCV001125538]	uncertain significance	19	11381718	11381718	Human	2	name , trait
28907507	CV879879	single nucleotide variant	NM_000121.4(EPOR):c.558C>A (p.Ala186=)	Primary familial polycythemia due to EPO receptor mutation [RCV001127632]	uncertain significance	19	11381719	11381719	Human	2	name , trait
28907510	CV879880	single nucleotide variant	NM_000121.4(EPOR):c.388G>A (p.Ala130Thr)	Primary familial polycythemia due to EPO receptor mutation [RCV001127633]	uncertain significance	19	11381969	11381969	Human	2	name , trait
28907513	CV879881	single nucleotide variant	NM_000121.4(EPOR):c.335C>T (p.Ala112Val)	Primary familial polycythemia due to EPO receptor mutation [RCV001127634]	uncertain significance	19	11382022	11382022	Human	2	name , trait
28898319	CV879882	single nucleotide variant	NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)	Primary familial polycythemia due to EPO receptor mutation [RCV001123536]	uncertain significance	19	11384195	11384195	Human	2	name , trait
126742581	CV1017202	single nucleotide variant	NM_004972.4(JAK2):c.1641+6T>C	Acquired polycythemia vera [RCV001329986]\|JAK2-related disorder [RCV003945999]\|Primary familial polycythemia due to EPO receptor mutation [RCV002499649]\|not provided [RCV002546365]	likely benign\|uncertain significance	9	5070058	5070058	Human	9	trait
150452098	CV1254915	single nucleotide variant	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	Primary familial polycythemia due to EPO receptor mutation [RCV002488461]\|not provided [RCV001667974]	benign	12	111446804	111446804	Human	400	trait
8687823	CV138291	single nucleotide variant	NM_004972.4(JAK2):c.2171T>C (p.Ile724Thr)	JAK2-related disorder [RCV003952602]\|Primary familial polycythemia due to EPO receptor mutation [RCV005394418]\|not provided [RCV002514642]\|not specified [RCV000121241]	likely benign\|uncertain significance\|not provided	9	5080268	5080268	Human	9	trait
8687826	CV138294	single nucleotide variant	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	JAK2-related disorder [RCV003915208]\|Primary familial polycythemia due to EPO receptor mutation [RCV002492429]\|not provided [RCV000892279]\|not specified [RCV000121244]	benign\|likely benign\|not provided	9	5126343	5126343	Human	16	trait
8687826	CV138294	single nucleotide variant	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	JAK2-related disorder [RCV003915208]\|Primary familial polycythemia due to EPO receptor mutation [RCV002492429]\|not provided [RCV000892279]\|not specified [RCV000121244]	benign\|likely benign\|not provided	9	5126343	5126344	Human	16	trait
8687830	CV138298	single nucleotide variant	NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	Primary familial polycythemia due to EPO receptor mutation [RCV002498567]\|not provided [RCV000903128]\|not specified [RCV000121248]	benign\|likely benign\|not provided	9	5044432	5044432	Human	9	trait
11567850	CV263756	single nucleotide variant	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 [RCV001258311]\|Primary familial polycythemia due to EPO receptor mutation [RCV000258855]\|not provided [RCV000953082]	benign\|likely benign\|uncertain significance	19	11378049	11378049	Human	10	name , trait
11567850	CV263756	single nucleotide variant	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)	Intellectual disability-hypotonic facies syndrome, X-linked, 1 [RCV001258311]\|Primary familial polycythemia due to EPO receptor mutation [RCV000258855]\|not provided [RCV000953082]	benign\|likely benign\|uncertain significance	19	11378049	11378050	Human	10	name , trait
11567849	CV263757	single nucleotide variant	NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	Acute megakaryoblastic leukemia without down syndrome [RCV001293750]\|Primary familial polycythemia due to EPO receptor mutation [RCV000258849]	pathogenic\|likely pathogenic\|not provided	19	11378195	11378195	Human	3	name , trait
11567848	CV263758	single nucleotide variant	NM_000121.4(EPOR):c.1310G>A (p.Arg437His)	Primary familial polycythemia due to EPO receptor mutation [RCV000258848]\|not provided [RCV002059064]	benign\|likely benign\|uncertain significance	19	11378201	11378201	Human	2	name , trait
401856262	CV2752403	single nucleotide variant	NM_005475.3(SH2B3):c.482C>T (p.Ala161Val)	Inborn genetic diseases [RCV004961270]\|Primary familial polycythemia due to EPO receptor mutation [RCV003340740]	uncertain significance	12	111418627	111418627	Human	3	trait
401933983	CV2797831	single nucleotide variant	NM_004972.4(JAK2):c.2768G>A (p.Arg923His)	JAK2-related disorder [RCV003410725]\|Primary familial polycythemia due to EPO receptor mutation [RCV005399377]	uncertain significance	9	5090452	5090452	Human	9	trait
11603050	CV313035	deletion	NM_004972.4(JAK2):c.2762-10_2762-9del	Budd-Chiari syndrome [RCV000296118]\|Primary familial polycythemia due to EPO receptor mutation [RCV005398496]\|not provided [RCV003430974]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	9	5090435	5090436	Human	9	trait
8565707	CV31637	single nucleotide variant	NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)	Primary familial polycythemia due to EPO receptor mutation [RCV000018068]\|not provided [RCV000893045]\|not specified [RCV003321483]	pathogenic\|affects\|benign\|likely benign\|uncertain significance	19	11378051	11378051	Human	2	name , trait
11600281	CV319562	single nucleotide variant	NM_004972.4(JAK2):c.337C>G (p.Leu113Val)	Primary familial polycythemia due to EPO receptor mutation [RCV005399014]\|not provided [RCV002932587]	likely benign\|uncertain significance	9	5029893	5029893	Human	9	trait
11625847	CV332504	single nucleotide variant	NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn)	Inborn genetic diseases [RCV002521180]\|Primary familial polycythemia due to EPO receptor mutation [RCV000403476]\|not provided [RCV001356496]	likely benign\|uncertain significance	19	11378067	11378067	Human	3	name , trait
11619653	CV332505	single nucleotide variant	NM_000121.4(EPOR):c.1041G>A (p.Pro347=)	Inborn genetic diseases [RCV003343782]\|Primary familial polycythemia due to EPO receptor mutation [RCV000328121]\|not provided [RCV000970756]	benign\|likely benign	19	11378470	11378470	Human	3	name , trait
11615065	CV332510	single nucleotide variant	NM_000121.4(EPOR):c.438C>T (p.Asp146=)	Primary familial polycythemia due to EPO receptor mutation [RCV000281754]\|not provided [RCV000897676]	benign\|likely benign	19	11381839	11381839	Human	2	name , trait
11624944	CV332512	single nucleotide variant	NM_000121.4(EPOR):c.168G>T (p.Arg56=)	Primary familial polycythemia due to EPO receptor mutation [RCV000392448]\|not provided [RCV000897677]	benign\|likely benign	19	11383180	11383180	Human	2	name , trait
11614433	CV342720	single nucleotide variant	NM_000121.4(EPOR):c.1398T>C (p.Thr466=)	Primary familial polycythemia due to EPO receptor mutation [RCV000276763]\|not provided [RCV002521181]	benign\|likely benign	19	11378113	11378113	Human	2	name , trait
11616448	CV342728	single nucleotide variant	NM_000121.4(EPOR):c.137G>A (p.Gly46Glu)	Primary familial polycythemia due to EPO receptor mutation [RCV000294901]\|not provided [RCV000885900]	benign\|likely benign	19	11383211	11383211	Human	2	name , trait
11625984	CV342731	single nucleotide variant	NM_000121.4(EPOR):c.24C>T (p.Leu8=)	Primary familial polycythemia due to EPO receptor mutation [RCV000405189]\|not provided [RCV000952779]	benign\|likely benign	19	11384184	11384184	Human	2	name , trait
11627082	CV348066	single nucleotide variant	NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala)	EPOR-related disorder [RCV003912373]\|Primary familial polycythemia due to EPO receptor mutation [RCV000275498]\|not provided [RCV001672550]	benign	19	11378373	11378373	Human	2	name , trait , alternate_id
11631281	CV348074	single nucleotide variant	NM_000121.4(EPOR):c.558C>T (p.Ala186=)	Primary familial polycythemia due to EPO receptor mutation [RCV000373782]\|not provided [RCV002521182]	benign\|likely benign	19	11381719	11381719	Human	2	name , trait
11631102	CV349351	single nucleotide variant	NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)	Primary familial polycythemia due to EPO receptor mutation [RCV000367754]\|not provided [RCV004718518]	benign\|likely benign	19	11378372	11378372	Human	2	name , trait
11631524	CV349355	single nucleotide variant	NM_000121.4(EPOR):c.657C>A (p.Ala219=)	Primary familial polycythemia due to EPO receptor mutation [RCV000379775]\|not provided [RCV000879908]	benign\|likely benign	19	11381138	11381138	Human	2	name , trait
13522130	CV493110	single nucleotide variant	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	Primary familial polycythemia due to EPO receptor mutation [RCV000763792]\|not provided [RCV000591342]	uncertain significance	12	111447506	111447506	Human	35	trait
13522130	CV493110	single nucleotide variant	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	Primary familial polycythemia due to EPO receptor mutation [RCV000763792]\|not provided [RCV000591342]	uncertain significance	12	111447506	111447507	Human	35	trait
15181734	CV727892	single nucleotide variant	NM_000121.4(EPOR):c.296C>T (p.Ala99Val)	Primary familial polycythemia due to EPO receptor mutation [RCV001127635]\|not provided [RCV000885832]	benign\|likely benign\|conflicting interpretations of pathogenicity	19	11382061	11382061	Human	2	name , trait
28903210	CV879877	single nucleotide variant	NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	Inborn genetic diseases [RCV002556720]\|Primary familial polycythemia due to EPO receptor mutation [RCV001125537]\|not provided [RCV004726894]	likely benign\|uncertain significance	19	11381185	11381185	Human	3	name , trait
405294792	CV3211970	single nucleotide variant	NM_000121.4(EPOR):c.1236G>A (p.Ser412=)	EPOR-related disorder [RCV003934698]	likely benign	19	11378275	11378275	Human		name , trait , alternate_id
156064764	CV2018304	single nucleotide variant	NM_000121.4(EPOR):c.10C>T (p.Leu4Phe)	not provided [RCV002705496]	uncertain significance	19	11384198	11384198	Human		name
15162570	CV741573	single nucleotide variant	NM_000121.4(EPOR):c.249C>A (p.Leu83=)	not provided [RCV000903580]	likely benign	19	11383099	11383099	Human		name
156189832	CV2205978	single nucleotide variant	NM_000121.4(EPOR):c.58G>T (p.Ala20Ser)	Inborn genetic diseases [RCV002665813]	uncertain significance	19	11384150	11384150	Human	1	name
401883057	CV2788638	single nucleotide variant	NM_000121.4(EPOR):c.70T>C (p.Trp24Arg)	Inborn genetic diseases [RCV003385946]	uncertain significance	19	11384138	11384138	Human	1	name
401906963	CV2811594	single nucleotide variant	NM_000121.4(EPOR):c.999C>A (p.Val333=)	not provided [RCV003421838]	likely benign	19	11378512	11378512	Human		name
401928503	CV2811595	single nucleotide variant	NM_000121.4(EPOR):c.451C>T (p.Leu151=)	not provided [RCV003406852]	likely benign	19	11381826	11381826	Human		name
405191417	CV2875822	single nucleotide variant	NM_000121.4(EPOR):c.975G>A (p.Glu325=)	not provided [RCV003550434]	likely benign	19	11378536	11378536	Human		name
405722226	CV3249136	single nucleotide variant	NM_000121.4(EPOR):c.47G>T (p.Cys16Phe)	Inborn genetic diseases [RCV004378141]	uncertain significance	19	11384161	11384161	Human	1	name
597675889	CV3671229	single nucleotide variant	NM_000121.4(EPOR):c.83C>T (p.Pro28Leu)	Inborn genetic diseases [RCV004981985]	uncertain significance	19	11384125	11384125	Human	1	name
598169504	CV3965440	single nucleotide variant	NM_000121.4(EPOR):c.31C>A (p.Gln11Lys)	Inborn genetic diseases [RCV005330448]	uncertain significance	19	11384177	11384177	Human	1	name
15191716	CV741571	single nucleotide variant	NM_000121.4(EPOR):c.801C>G (p.Thr267=)	not provided [RCV000910327]	benign	19	11380910	11380910	Human		name
156355878	CV1975125	single nucleotide variant	NM_000121.4(EPOR):c.1140G>A (p.Pro380=)	not provided [RCV002602159]	likely benign	19	11378371	11378371	Human		name
405152131	CV2888695	single nucleotide variant	NM_000121.4(EPOR):c.1341T>C (p.Pro447=)	not provided [RCV003561804]	benign	19	11378170	11378170	Human		name
596945325	CV3547833	single nucleotide variant	NM_000121.4(EPOR):c.1488C>T (p.Ala496=)	not provided [RCV004809164]	likely benign	19	11378023	11378023	Human		name
596946835	CV3548668	single nucleotide variant	NM_000121.4(EPOR):c.119C>T (p.Ala40Val)	not provided [RCV004810496]	uncertain significance	19	11383229	11383229	Human		name
13211399	CV426281	single nucleotide variant	NM_000121.4(EPOR):c.244C>T (p.Gln82Ter)	not provided [RCV000497391]	likely pathogenic	19	11383104	11383104	Human	2	name
13211399	CV426281	single nucleotide variant	NM_000121.4(EPOR):c.244C>T (p.Gln82Ter)	not provided [RCV000497391]	likely pathogenic	19	11383104	11383105	Human	2	name
15113974	CV756696	single nucleotide variant	NM_000121.4(EPOR):c.233G>C (p.Ser78Thr)	not provided [RCV000917192]	likely benign	19	11383115	11383115	Human		name
156343073	CV2222621	single nucleotide variant	NM_000121.4(EPOR):c.715C>T (p.Pro239Ser)	Inborn genetic diseases [RCV002719364]	uncertain significance	19	11381080	11381080	Human	1	name
155951021	CV2238700	single nucleotide variant	NM_000121.4(EPOR):c.808G>A (p.Ala270Thr)	Inborn genetic diseases [RCV002753048]	uncertain significance	19	11380903	11380903	Human	1	name
156166339	CV2270410	single nucleotide variant	NM_000121.4(EPOR):c.562A>C (p.Asn188His)	Inborn genetic diseases [RCV002827698]	uncertain significance	19	11381715	11381715	Human	1	name
156003405	CV2295651	single nucleotide variant	NM_000121.4(EPOR):c.437A>T (p.Asp146Val)	Inborn genetic diseases [RCV002865561]	uncertain significance	19	11381840	11381840	Human	1	name
156155652	CV2314313	single nucleotide variant	NM_000121.4(EPOR):c.554C>T (p.Ser185Leu)	Inborn genetic diseases [RCV002915660]	uncertain significance	19	11381723	11381723	Human	1	name
156192882	CV2388850	single nucleotide variant	NM_000121.4(EPOR):c.874G>A (p.Glu292Lys)	Inborn genetic diseases [RCV002789286]	uncertain significance	19	11378732	11378732	Human	1	name
405132690	CV3130117	single nucleotide variant	NM_000121.4(EPOR):c.731C>T (p.Thr244Met)	not provided [RCV003838540]	uncertain significance	19	11381064	11381064	Human		name
405722217	CV3249135	single nucleotide variant	NM_000121.4(EPOR):c.440C>T (p.Ala147Val)	Inborn genetic diseases [RCV004378140]	uncertain significance	19	11381837	11381837	Human	1	name
405722233	CV3249137	single nucleotide variant	NM_000121.4(EPOR):c.655G>A (p.Ala219Thr)	Inborn genetic diseases [RCV004378142]	uncertain significance	19	11381140	11381140	Human	1	name
405722239	CV3249138	single nucleotide variant	NM_000121.4(EPOR):c.716C>G (p.Pro239Arg)	Inborn genetic diseases [RCV004378143]	uncertain significance	19	11381079	11381079	Human	1	name
405722246	CV3249139	single nucleotide variant	NM_000121.4(EPOR):c.743T>G (p.Leu248Arg)	Inborn genetic diseases [RCV004378144]	uncertain significance	19	11380968	11380968	Human	1	name
405872157	CV3398284	single nucleotide variant	NM_000121.4(EPOR):c.953G>A (p.Ser318Asn)	not provided [RCV004575285]	likely benign	19	11378558	11378558	Human		name
407492029	CV3431786	single nucleotide variant	NM_000121.4(EPOR):c.605G>C (p.Arg202Pro)	Inborn genetic diseases [RCV004620655]	uncertain significance	19	11381190	11381190	Human	1	name
596926190	CV3539756	single nucleotide variant	NM_000121.4(EPOR):c.544G>C (p.Val182Leu)	not provided [RCV004790747]	uncertain significance	19	11381733	11381733	Human		name
597675847	CV3671223	single nucleotide variant	NM_000121.4(EPOR):c.860C>T (p.Pro287Leu)	Inborn genetic diseases [RCV004981980]	uncertain significance	19	11378746	11378746	Human	1	name
597675872	CV3671226	single nucleotide variant	NM_000121.4(EPOR):c.914A>G (p.Gln305Arg)	Inborn genetic diseases [RCV004981983]	uncertain significance	19	11378692	11378692	Human	1	name
597934365	CV3793574	deletion	NM_000121.4(EPOR):c.1313del (p.Pro438fs)	not provided [RCV005132230]	uncertain significance	19	11378198	11378198	Human		name
597862393	CV3813895	single nucleotide variant	NM_000121.4(EPOR):c.620T>C (p.Leu207Pro)	not provided [RCV005146964]	uncertain significance	19	11381175	11381175	Human		name
598169509	CV3965442	single nucleotide variant	NM_000121.4(EPOR):c.760A>G (p.Thr254Ala)	Inborn genetic diseases [RCV005330450]	uncertain significance	19	11380951	11380951	Human	1	name
616933816	CV4011782	single nucleotide variant	NM_000121.4(EPOR):c.778G>A (p.Val260Met)	not specified [RCV005408331]	uncertain significance	19	11380933	11380933	Human		name
15120749	CV741572	single nucleotide variant	NM_000121.4(EPOR):c.697T>G (p.Trp233Gly)	not provided [RCV000895947]	likely benign	19	11381098	11381098	Human		name
156361889	CV2265434	single nucleotide variant	NM_000121.4(EPOR):c.1207G>A (p.Ala403Thr)	Inborn genetic diseases [RCV002812949]	uncertain significance	19	11378304	11378304	Human	1	name
155923276	CV2280262	single nucleotide variant	NM_000121.4(EPOR):c.1072C>T (p.Pro358Ser)	Inborn genetic diseases [RCV002859965]	uncertain significance	19	11378439	11378439	Human	1	name
156019405	CV2301842	single nucleotide variant	NM_000121.4(EPOR):c.1454A>G (p.Tyr485Cys)	Inborn genetic diseases [RCV002884844]	uncertain significance	19	11378057	11378057	Human	1	name
155958207	CV2304255	single nucleotide variant	NM_000121.4(EPOR):c.1127T>C (p.Leu376Pro)	Inborn genetic diseases [RCV002905776]	uncertain significance	19	11378384	11378384	Human	1	name
156301533	CV2307077	single nucleotide variant	NM_000121.4(EPOR):c.1010G>A (p.Arg337His)	Inborn genetic diseases [RCV002897990]	uncertain significance	19	11378501	11378501	Human	1	name
329392159	CV2470432	single nucleotide variant	NM_000121.4(EPOR):c.1334T>G (p.Leu445Arg)	Inborn genetic diseases [RCV003217626]	uncertain significance	19	11378177	11378177	Human	1	name
401774632	CV2691805	single nucleotide variant	NM_000121.4(EPOR):c.1261G>C (p.Ala421Pro)	Inborn genetic diseases [RCV003285822]	uncertain significance	19	11378250	11378250	Human	1	name
405722167	CV3249129	single nucleotide variant	NM_001130677.2(EPOP):c.47C>T (p.Pro16Leu)	not specified [RCV004378134]	uncertain significance	17	38674449	38674449	Human		name
405722207	CV3249133	single nucleotide variant	NM_000121.4(EPOR):c.1157C>T (p.Pro386Leu)	Inborn genetic diseases [RCV004378138]	uncertain significance	19	11378354	11378354	Human	1	name
405722213	CV3249134	single nucleotide variant	NM_000121.4(EPOR):c.1424G>C (p.Gly475Ala)	Inborn genetic diseases [RCV004378139]	uncertain significance	19	11378087	11378087	Human	1	name
407492025	CV3431785	single nucleotide variant	NM_000121.4(EPOR):c.1198G>A (p.Gly400Ser)	Inborn genetic diseases [RCV004620654]	uncertain significance	19	11378313	11378313	Human	1	name
407492033	CV3431787	single nucleotide variant	NM_000121.4(EPOR):c.1255G>A (p.Ala419Thr)	Inborn genetic diseases [RCV004620656]	uncertain significance	19	11378256	11378256	Human	1	name
596926185	CV3539755	single nucleotide variant	NM_000121.4(EPOR):c.1505C>G (p.Pro502Arg)	not provided [RCV004790746]	conflicting interpretations of pathogenicity\|uncertain significance	19	11378006	11378006	Human		name
596927891	CV3540082	single nucleotide variant	NM_000121.4(EPOR):c.1300C>T (p.Gln434Ter)	not provided [RCV004791074]	pathogenic	19	11378211	11378211	Human		name
597675853	CV3671224	single nucleotide variant	NM_000121.4(EPOR):c.1423G>A (p.Gly475Arg)	Inborn genetic diseases [RCV004981981]	uncertain significance	19	11378088	11378088	Human	1	name
597675863	CV3671225	single nucleotide variant	NM_000121.4(EPOR):c.1308G>T (p.Leu436Phe)	Inborn genetic diseases [RCV004981982]	uncertain significance	19	11378203	11378203	Human	1	name
597675881	CV3671227	single nucleotide variant	NM_000121.4(EPOR):c.1210T>G (p.Ser404Ala)	Inborn genetic diseases [RCV004981984]	uncertain significance	19	11378301	11378301	Human	1	name
597675899	CV3671230	single nucleotide variant	NM_000121.4(EPOR):c.1286T>G (p.Leu429Arg)	Inborn genetic diseases [RCV004981986]	uncertain significance	19	11378225	11378225	Human	1	name
597675905	CV3671231	single nucleotide variant	NM_000121.4(EPOR):c.1052A>G (p.Asp351Gly)	Inborn genetic diseases [RCV004981987]	uncertain significance	19	11378459	11378459	Human	1	name
597837297	CV3761478	single nucleotide variant	NM_000121.4(EPOR):c.1183G>C (p.Val395Leu)	not provided [RCV005085849]	likely benign	19	11378328	11378328	Human		name
597912208	CV3850639	single nucleotide variant	NM_000121.4(EPOR):c.1195G>T (p.Glu399Ter)	not provided [RCV005203787]	pathogenic	19	11378316	11378316	Human		name
598169500	CV3965439	single nucleotide variant	NM_000121.4(EPOR):c.1361A>G (p.Tyr454Cys)	Inborn genetic diseases [RCV005330447]	uncertain significance	19	11378150	11378150	Human	1	name
598169506	CV3965441	single nucleotide variant	NM_000121.4(EPOR):c.1303C>G (p.Leu435Val)	Inborn genetic diseases [RCV005330449]	uncertain significance	19	11378208	11378208	Human	1	name
405722159	CV3249128	single nucleotide variant	NM_001130677.2(EPOP):c.251C>T (p.Pro84Leu)	not specified [RCV004378133]	uncertain significance	17	38674245	38674245	Human		name
405722173	CV3249130	single nucleotide variant	NM_001130677.2(EPOP):c.490C>T (p.Leu164Phe)	not specified [RCV004378135]	uncertain significance	17	38674006	38674006	Human		name
405722184	CV3249131	single nucleotide variant	NM_001130677.2(EPOP):c.845G>C (p.Arg282Pro)	not specified [RCV004378136]	uncertain significance	17	38673651	38673651	Human		name
12894624	CV410436	duplication	NM_000121.4(EPOR):c.465_481dup (p.His161fs)	not provided [RCV000483508]	likely pathogenic	19	11381795	11381796	Human		name
8600269	CV31643	single nucleotide variant	NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)	Cystic fibrosis [RCV000991132]\|EPOXIDE HYDROLASE 1 POLYMORPHISM [RCV000018075]\|not provided [RCV001610293]	risk factor\|benign\|drug response	1	225831932	225831932	Human	1	trait , alternate_id
8600270	CV31644	single nucleotide variant	NM_001136018.4(EPHX1):c.416A>G (p.His139Arg)	EPOXIDE HYDROLASE 1 POLYMORPHISM [RCV000018079]\|not provided [RCV001723577]	benign\|drug response	1	225838705	225838705	Human		trait , alternate_id

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