ClinVar for MedGen (Select 435867) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068247	NM_001430.5(EPAS1):c.826T>A (p.Ser276Thr)	EPAS1 (S276T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 2921254	NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)	EPAS1 (F540L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 2920985	NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)	EPAS1 (P534L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GLikely pathogenic
Select item 2585250	NM_001430.5(EPAS1):c.1635C>G (p.Ile545Met)	EPAS1 (I545M)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 2456394	NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)	EPAS1, LOC126806210 (T196M)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 2441242	NM_001430.5(EPAS1):c.2069G>A (p.Arg690Gln)	EPAS1 (R690Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 2441241	NM_001430.5(EPAS1):c.2009C>G (p.Pro670Arg)	EPAS1 (P670R)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GUncertain significance
Select item 2441240	NM_001430.5(EPAS1):c.241G>A (p.Ala81Thr)	EPAS1 (A81T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GUncertain significance
Select item 1789887	NM_001430.5(EPAS1):c.2342C>T (p.Pro781Leu)	EPAS1 (P781L)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 1781431	NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GLikely benign
Select item 1699154	NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr)	EPAS1 (M535T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GPathogenic
Select item 899032	NM_001430.5(EPAS1):c.*1898C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 899031	NM_001430.5(EPAS1):c.*1729T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 898967	NM_001430.5(EPAS1):c.*575A>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 898966	NM_001430.5(EPAS1):c.*537T>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 898965	NM_001430.5(EPAS1):c.*512A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 898964	NM_001430.5(EPAS1):c.*408T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 898894	NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile)	EPAS1 (V654I)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 898893	NM_001430.5(EPAS1):c.1821C>T (p.Ile607=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 898892	NM_001430.5(EPAS1):c.1658C>T (p.Ala553Val)	EPAS1 (A553V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 898829	NM_001430.5(EPAS1):c.345C>T (p.Ile115=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 898828	NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	EPAS1 (E80K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 897895	NM_001430.5(EPAS1):c.*1611A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897894	NM_001430.5(EPAS1):c.*1566T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 897893	NM_001430.5(EPAS1):c.*1373C>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897892	NM_001430.5(EPAS1):c.*1305G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897815	NM_001430.5(EPAS1):c.*285C>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897814	NM_001430.5(EPAS1):c.*262A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 897813	NM_001430.5(EPAS1):c.*150T>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 897742	NM_001430.5(EPAS1):c.1248C>T (p.Phe416=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 897741	NM_001430.5(EPAS1):c.1203C>A (p.Ala401=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 897665	NM_001430.5(EPAS1):c.192G>T (p.Leu64=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 897664	NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys)	EPAS1 (R14K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 896278	NM_001430.5(EPAS1):c.*1260T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 896277	NM_001430.5(EPAS1):c.*1182G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 896208	NM_001430.5(EPAS1):c.2473C>T (p.Arg825Trp)	EPAS1 (R825W)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 896139	NM_001430.5(EPAS1):c.1077T>C (p.Thr359=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 896138	NM_001430.5(EPAS1):c.993C>T (p.Asn331=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 896137	NM_001430.5(EPAS1):c.886+12G>A	EPAS1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4 +1 more	GLikely benign
Select item 896077	NM_001430.5(EPAS1):c.26+7G>C	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GBenign
Select item 896076	NM_001430.5(EPAS1):c.-92G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895932	NM_001430.5(EPAS1):c.2276A>G (p.Asn759Ser)	EPAS1 (N759S)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GBenign
Select item 895931	NM_001430.5(EPAS1):c.2166G>A (p.Leu722=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 895930	NM_001430.5(EPAS1):c.2113A>G (p.Lys705Glu)	EPAS1 (K705E)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 895868	NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys)	EPAS1 (E287K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GLikely benign
Select item 895867	NM_001430.5(EPAS1):c.591C>A (p.Gly197=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GConflicting classifications of pathogenicity
Select item 895866	NM_001430.5(EPAS1):c.587C>A (p.Thr196Lys)	EPAS1, LOC126806210 (T196K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GLikely benign
Select item 895791	NM_001430.5(EPAS1):c.-237C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895790	NM_001430.5(EPAS1):c.-357G>C	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 895789	NM_001430.5(EPAS1):c.-401G>A	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 894907	NM_001430.5(EPAS1):c.*1917G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 894840	NM_001430.5(EPAS1):c.*898C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 894839	NM_001430.5(EPAS1):c.*842A>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 435064	NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=)	EPAS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 336324	NM_001430.5(EPAS1):c.*1916C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336323	NM_001430.5(EPAS1):c.*1878T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336322	NM_001430.5(EPAS1):c.*1827C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336321	NM_001430.5(EPAS1):c.*1790G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336319	NM_001430.5(EPAS1):c.*1724G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336318	NM_001430.5(EPAS1):c.*1620G>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336317	NM_001430.5(EPAS1):c.*1614C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336316	NM_001430.5(EPAS1):c.*1373C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GLikely benign
Select item 336315	NM_001430.5(EPAS1):c.*1290C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336314	NM_001430.5(EPAS1):c.*1278C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336313	NM_001430.5(EPAS1):c.*1276G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336312	NM_001430.5(EPAS1):c.*1275C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336311	NM_001430.5(EPAS1):c.*1272C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336309	NM_001430.5(EPAS1):c.*1239A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336308	NM_001430.5(EPAS1):c.*1225C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336307	NM_001430.5(EPAS1):c.*1207A>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336306	NM_001430.5(EPAS1):c.*1134T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336304	NM_001430.5(EPAS1):c.*983C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336303	NM_001430.5(EPAS1):c.*853G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336302	NM_001430.5(EPAS1):c.*833G>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336300	NM_001430.5(EPAS1):c.*808C>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336295	NM_001430.5(EPAS1):c.*602G>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336294	NM_001430.5(EPAS1):c.*594A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336291	NM_001430.5(EPAS1):c.*527G>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336290	NM_001430.5(EPAS1):c.*486C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336289	NM_001430.5(EPAS1):c.*354G>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336288	NM_001430.5(EPAS1):c.*349T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336287	NM_001430.5(EPAS1):c.*208T>C	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336286	NM_001430.5(EPAS1):c.*117T>A	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336285	NM_001430.5(EPAS1):c.*111A>G	EPAS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 336284	NM_001430.5(EPAS1):c.*90C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336283	NM_001430.5(EPAS1):c.*54C>T	EPAS1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 4	GBenign
Select item 336282	NM_001430.5(EPAS1):c.2511C>T (p.Pro837=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 336281	NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp)	EPAS1 (E832D)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336280	NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln)	EPAS1 (R825Q)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336279	NM_001430.5(EPAS1):c.2457G>A (p.Val819=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 336278	NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly)	EPAS1 (R798G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 336277	NM_001430.5(EPAS1):c.2367C>T (p.Ile789=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336276	NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val)	EPAS1 (I789V)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336275	NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr)	EPAS1 (P785T)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336274	NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro)	EPAS1 (T766P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 336273	NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu)	EPAS1 (G724E)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 336272	NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala)	EPAS1 (S703A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 336270	NM_001430.5(EPAS1):c.2010T>C (p.Pro670=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 336269	NM_001430.5(EPAS1):c.1908T>C (p.Asn636=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336268	NM_001430.5(EPAS1):c.1833C>T (p.Ala611=)	EPAS1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 4 +1 more	GBenign

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