ClinVar for MedGen (Select 1641215) - ClinVar

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Items: 70

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275361.	NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter) GRCh37: Chr19:11488825 GRCh38: Chr19:11378149	EPOR	Y454*	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance	criteria provided, single submitter
Select item 25848402.	NM_005475.3(SH2B3):c.482C>T (p.Ala161Val) GRCh37: Chr12:111856431 GRCh38: Chr12:111418627	SH2B3	A161V	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance	criteria provided, single submitter
Select item 16861813.	NM_005475.3(SH2B3):c.1A>G (p.Met1Val) GRCh37: Chr12:111855950 GRCh38: Chr12:111418146	SH2B3	M1V	Primary familial polycythemia due to EPO receptor mutation	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 12654484.	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg) GRCh37: Chr12:111884608 GRCh38: Chr12:111446804	SH2B3	W262R, W60R	not provided, Thrombocythemia 1, Primary familial polycythemia due to EPO receptor mutation, Primary myelofibrosis	Benign (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10288345.	NM_004972.4(JAK2):c.1641+6T>C GRCh37: Chr9:5070058 GRCh38: Chr9:5070058	INSL6, JAK2		Budd-Chiari syndrome, Thrombocythemia 3, Primary myelofibrosis, Acute myeloid leukemia, Primary familial polycythemia due to EPO receptor mutation, Acquired polycythemia vera, not provided, Acquired polycythemia vera	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 8919796.	NM_000121.4(EPOR):c.251+7C>A GRCh37: Chr19:11493766 GRCh38: Chr19:11383090	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8919787.	NM_000121.4(EPOR):c.335C>T (p.Ala112Val) GRCh37: Chr19:11492698 GRCh38: Chr19:11382022	EPOR, LOC130063571	A112V	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8919778.	NM_000121.4(EPOR):c.388G>A (p.Ala130Thr) GRCh37: Chr19:11492645 GRCh38: Chr19:11381969	EPOR, LOC130063570	A130T	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8919769.	NM_000121.4(EPOR):c.558C>A (p.Ala186=) GRCh37: Chr19:11492395 GRCh38: Chr19:11381719	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89193410.	NM_000121.4(EPOR):c.*32T>C GRCh37: Chr19:11488628 GRCh38: Chr19:11377952	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89074011.	NM_000121.4(EPOR):c.559G>T (p.Gly187Cys) GRCh37: Chr19:11492394 GRCh38: Chr19:11381718	EPOR	G187C	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89073912.	NM_000121.4(EPOR):c.610G>C (p.Glu204Gln) GRCh37: Chr19:11491861 GRCh38: Chr19:11381185	EPOR	E204Q	Primary familial polycythemia due to EPO receptor mutation, Inborn genetic diseases	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89073813.	NM_000121.4(EPOR):c.663C>T (p.Arg221=) GRCh37: Chr19:11491808 GRCh38: Chr19:11381132	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89073714.	NM_000121.4(EPOR):c.861G>A (p.Pro287=) GRCh37: Chr19:11489421 GRCh38: Chr19:11378745	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89068315.	NM_000121.4(EPOR):c.*776A>G GRCh37: Chr19:11487884 GRCh38: Chr19:11377208	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89020816.	NM_000121.4(EPOR):c.-55G>A GRCh37: Chr19:11494938 GRCh38: Chr19:11384262	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89020717.	NM_000121.4(EPOR):c.-25G>A GRCh37: Chr19:11494908 GRCh38: Chr19:11384232	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89016118.	NM_000121.4(EPOR):c.901A>G (p.Lys301Glu) GRCh37: Chr19:11489381 GRCh38: Chr19:11378705	EPOR	K301E	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89016019.	NM_000121.4(EPOR):c.1287G>A (p.Leu429=) GRCh37: Chr19:11488900 GRCh38: Chr19:11378224	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88955020.	NM_000121.4(EPOR):c.-9G>A GRCh37: Chr19:11494892 GRCh38: Chr19:11384216	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88954921.	NM_000121.4(EPOR):c.13G>A (p.Gly5Arg) GRCh37: Chr19:11494871 GRCh38: Chr19:11384195	EPOR	G5R	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88954822.	NM_000121.4(EPOR):c.116-10C>T GRCh37: Chr19:11493918 GRCh38: Chr19:11383242	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88949123.	NM_000121.4(EPOR):c.1456T>C (p.Ser486Pro) GRCh37: Chr19:11488731 GRCh38: Chr19:11378055	EPOR	S486P	Primary familial polycythemia due to EPO receptor mutation	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88949024.	NM_000121.4(EPOR):c.1467T>C (p.Tyr489=) GRCh37: Chr19:11488720 GRCh38: Chr19:11378044	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 71365925.	NM_000121.4(EPOR):c.296C>T (p.Ala99Val) GRCh37: Chr19:11492737 GRCh38: Chr19:11382061	EPOR, LOC130063571	A99V	not provided, Primary familial polycythemia due to EPO receptor mutation	Benign/Likely benign (May 21, 2018)	criteria provided, multiple submitters, no conflicts
Select item 61997326.	NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) GRCh37: Chr12:111885295 GRCh38: Chr12:111447491	SH2B3	E193K, E395K	Primary familial polycythemia due to EPO receptor mutation, Thrombocythemia 1	Pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 50168627.	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys) GRCh37: Chr12:111885310 GRCh38: Chr12:111447506	SH2B3	E198K, E400K	Primary familial polycythemia due to EPO receptor mutation, Primary myelofibrosis, Thrombocythemia 1, not provided	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 32815928.	NM_000121.4(EPOR):c.-68G>A GRCh37: Chr19:11494951 GRCh38: Chr19:11384275	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32815829.	NM_000121.4(EPOR):c.-8G>T GRCh37: Chr19:11494891 GRCh38: Chr19:11384215	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32815730.	NM_000121.4(EPOR):c.24C>T (p.Leu8=) GRCh37: Chr19:11494860 GRCh38: Chr19:11384184	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign/Likely benign (May 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32815631.	NM_000121.4(EPOR):c.115+7A>G GRCh37: Chr19:11494762 GRCh38: Chr19:11384086	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32815532.	NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) GRCh37: Chr19:11493887 GRCh38: Chr19:11383211	EPOR	G46E	not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32815433.	NM_000121.4(EPOR):c.168G>T (p.Arg56=) GRCh37: Chr19:11493856 GRCh38: Chr19:11383180	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32815334.	NM_000121.4(EPOR):c.215T>C (p.Val72Ala) GRCh37: Chr19:11493809 GRCh38: Chr19:11383133	EPOR	V72A	Primary familial polycythemia due to EPO receptor mutation	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32815235.	NM_000121.4(EPOR):c.438C>T (p.Asp146=) GRCh37: Chr19:11492515 GRCh38: Chr19:11381839	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32815136.	NM_000121.4(EPOR):c.558C>T (p.Ala186=) GRCh37: Chr19:11492395 GRCh38: Chr19:11381719	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32815037.	NM_000121.4(EPOR):c.568G>T (p.Ala190Ser) GRCh37: Chr19:11492385 GRCh38: Chr19:11381709	EPOR	A190S	Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32814938.	NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) GRCh37: Chr19:11491875 GRCh38: Chr19:11381199	EPOR	L199P	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32814839.	NM_000121.4(EPOR):c.657C>A (p.Ala219=) GRCh37: Chr19:11491814 GRCh38: Chr19:11381138	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32814740.	NM_000121.4(EPOR):c.864C>T (p.Ser288=) GRCh37: Chr19:11489418 GRCh38: Chr19:11378742	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32814641.	NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) GRCh37: Chr19:11489207 GRCh38: Chr19:11378531	EPOR	P327L	Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32814542.	NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) GRCh37: Chr19:11489165 GRCh38: Chr19:11378489	EPOR	T341M	Primary familial polycythemia due to EPO receptor mutation	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32814443.	NM_000121.4(EPOR):c.1041G>A (p.Pro347=) GRCh37: Chr19:11489146 GRCh38: Chr19:11378470	EPOR		Inborn genetic diseases, not provided, Primary familial polycythemia due to EPO receptor mutation	Benign/Likely benign (Aug 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32814344.	NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) GRCh37: Chr19:11489049 GRCh38: Chr19:11378373	EPOR	P380A	not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32814245.	NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) GRCh37: Chr19:11489048 GRCh38: Chr19:11378372	EPOR	P380L	Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32814146.	NM_000121.4(EPOR):c.1398T>C (p.Thr466=) GRCh37: Chr19:11488789 GRCh38: Chr19:11378113	EPOR		not provided, Primary familial polycythemia due to EPO receptor mutation	Benign (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32814047.	NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) GRCh37: Chr19:11488760 GRCh38: Chr19:11378084	EPOR	A476V	Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32813948.	NM_000121.4(EPOR):c.1428C>T (p.Ala476=) GRCh37: Chr19:11488759 GRCh38: Chr19:11378083	EPOR		Primary familial polycythemia due to EPO receptor mutation	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32813849.	NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) GRCh37: Chr19:11488743 GRCh38: Chr19:11378067	EPOR	D482N	Primary familial polycythemia due to EPO receptor mutation, Inborn genetic diseases	Likely benign (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32813750.	NM_000121.4(EPOR):c.*35G>A GRCh37: Chr19:11488625 GRCh38: Chr19:11377949	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32813551.	NM_000121.4(EPOR):c.*425C>T GRCh37: Chr19:11488235 GRCh38: Chr19:11377559	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32813452.	NM_000121.4(EPOR):c.*504G>A GRCh37: Chr19:11488156 GRCh38: Chr19:11377480	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32813353.	NM_000121.4(EPOR):c.*577A>G GRCh37: Chr19:11488083 GRCh38: Chr19:11377407	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32813254.	NM_000121.4(EPOR):c.*619C>T GRCh37: Chr19:11488041 GRCh38: Chr19:11377365	EPOR		Primary familial polycythemia due to EPO receptor mutation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32813155.	NM_000121.4(EPOR):c.*670G>A GRCh37: Chr19:11487990 GRCh38: Chr19:11377314	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32813056.	NM_000121.4(EPOR):c.*684C>A GRCh37: Chr19:11487976 GRCh38: Chr19:11377300	EPOR		Primary familial polycythemia due to EPO receptor mutation	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 26813157.	NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter) GRCh37: Chr19:11488871 GRCh38: Chr19:11378195	EPOR	W439*	Acute megakaryoblastic leukemia without down syndrome	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 26813058.	NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) GRCh37: Chr19:11488725 GRCh38: Chr19:11378049	EPOR	P488S	Primary familial polycythemia due to EPO receptor mutation, not provided, Intellectual disability-hypotonic facies syndrome, X-linked, 1	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26812959.	NM_000121.4(EPOR):c.1310G>A (p.Arg437His) GRCh37: Chr19:11488877 GRCh38: Chr19:11378201	EPOR	R437H	Primary familial polycythemia due to EPO receptor mutation, not provided	Benign (Mar 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13455960.	NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) GRCh37: Chr9:5044432 GRCh38: Chr9:5044432	INSL6, JAK2	G127D	Primary myelofibrosis, Thrombocythemia 3, Primary familial polycythemia due to EPO receptor mutation, Acquired polycythemia vera, Budd-Chiari syndrome, Acute myeloid leukemia, not provided	Benign/Likely benign (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13455561.	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) GRCh37: Chr9:5126343 GRCh38: Chr9:5126343	INSL6, JAK2	R1063H, R658H, R914H	Budd-Chiari syndrome, Primary familial polycythemia due to EPO receptor mutation, Acquired polycythemia vera, Acute myeloid leukemia, Primary myelofibrosis, Thrombocythemia 3, not specified, not provided	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 3044662.	NM_005475.3(SH2B3):c.622G>T (p.Glu208Ter) GRCh37: Chr12:111856571 GRCh38: Chr12:111418767	SH2B3	E208*	Primary familial polycythemia due to EPO receptor mutation	Affects (Sep 16, 2010)	no assertion criteria provided
Select item 1660163.	NM_000121.4(EPOR):c.1283_1289dup (p.Ser432fs) GRCh37: Chr19:11488897-11488898 GRCh38: Chr19:11378221-11378222	EPOR	S432fs	Primary familial polycythemia due to EPO receptor mutation	Affects (Oct 1, 1999)	no assertion criteria provided
Select item 1660064.	NM_000121.4(EPOR):c.1278C>G (p.Tyr426Ter) GRCh37: Chr19:11488909 GRCh38: Chr19:11378233	EPOR	Y426*	Primary familial polycythemia due to EPO receptor mutation	Affects (Jul 1, 1998)	no assertion criteria provided
Select item 1659965.	NM_000121.4(EPOR):c.1299_1305del (p.Gln434fs) GRCh37: Chr19:11488882-11488888 GRCh38: Chr19:11378206-11378212	EPOR	Q434fs	Primary familial polycythemia due to EPO receptor mutation	Affects (Sep 1, 1997)	no assertion criteria provided
Select item 1659866.	NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) GRCh37: Chr19:11488727 GRCh38: Chr19:11378051	EPOR	N487S	not specified, not provided, Primary familial polycythemia due to EPO receptor mutation	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1659767.	NM_000121.4(EPOR):c.1281dup (p.Ile428fs) GRCh37: Chr19:11488905-11488906 GRCh38: Chr19:11378229-11378230	EPOR	I428fs	Primary familial polycythemia due to EPO receptor mutation	Affects (Sep 1, 1997)	no assertion criteria provided
Select item 1659668.	NM_000121.4(EPOR):c.1288dup (p.Asp430fs) GRCh37: Chr19:11488898-11488899 GRCh38: Chr19:11378222-11378223	EPOR	D430fs	Primary familial polycythemia due to EPO receptor mutation	Affects (Jul 1, 1995)	no assertion criteria provided
Select item 1659569.	NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter) GRCh37: Chr19:11488870 GRCh38: Chr19:11378194	EPOR	W439*	Primary familial polycythemia due to EPO receptor mutation	Affects (Feb 1, 1998)	no assertion criteria provided
Select item 1466270.	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) GRCh37: Chr9:5073770 GRCh38: Chr9:5073770	INSL6, JAK2	V617F, V212F, V468F	Primary familial polycythemia due to EPO receptor mutation, Acute myeloid leukemia, Primary myelofibrosis, Thrombocythemia 3, Budd-Chiari syndrome, Acquired polycythemia vera, Thrombocythemia 3, not provided, Acquired polycythemia vera, Primary myelofibrosis	Pathogenic/Likely pathogenic (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 70