EPAS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 149929	GRCh38/hg38 2p21(chr2:46083824-46395464)x3	EPAS1, LINC01820 +11 more	Copy number gain	See cases	GUncertain significance
Select item 1277023	NC_000002.12:g.46297151G>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1241092	NC_000002.12:g.46297251T>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1275431	NC_000002.12:g.46297264G>C	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 1180435	NC_000002.12:g.46297264_46409828dup	EPAS1, LINC01820 +4 more	Duplication	not specified	Gnot provided
Select item 1232911	NC_000002.12:g.46297273G>A	EPAS1, LOC129933654	Single nucleotide variant	not provided	GBenign
Select item 336218	NM_001430.5(EPAS1):c.-472G>A	EPAS1, LOC129933654	Single nucleotide variant (5 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 336219	NM_001430.5(EPAS1):c.-471C>T	EPAS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336220	NM_001430.5(EPAS1):c.-452A>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 895790	NM_001430.5(EPAS1):c.-357G>C	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336221	NM_001430.5(EPAS1):c.-341dup	EPAS1	Duplication (5 prime UTR variant)	Familial erythrocytosis	GBenign
Select item 336222	NM_001430.5(EPAS1):c.-347T>G	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336223	NM_001430.5(EPAS1):c.-316C>A	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336224	NM_001430.5(EPAS1):c.-255G>T	EPAS1	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
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 336225	NM_001430.5(EPAS1):c.-231C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336226	NM_001430.5(EPAS1):c.-200A>C	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336227	NM_001430.5(EPAS1):c.-140G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4 +1 more	GBenign
Select item 336228	NM_001430.5(EPAS1):c.-138G>T	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336229	NM_001430.5(EPAS1):c.-111G>C	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336230	NM_001430.5(EPAS1):c.-102C>G	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
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 336231	NM_001430.5(EPAS1):c.-86C>T	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 336232	NM_001430.5(EPAS1):c.-58dup	EPAS1, LOC129933655	Duplication (5 prime UTR variant)	not provided +1 more	GBenign
Select item 336233	NM_001430.5(EPAS1):c.-4G>A	EPAS1, LOC129933655	Single nucleotide variant (5 prime UTR variant)	Erythrocytosis, familial, 4 +1 more	GBenign/Likely benign
Select item 1675778	NM_001430.5(EPAS1):c.-1A>G	LOC129933655, EPAS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1756591	NM_001430.5(EPAS1):c.6A>G (p.Thr2=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1756589	NM_001430.5(EPAS1):c.6A>C (p.Thr2=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761597	NM_001430.5(EPAS1):c.7G>A (p.Ala3Thr)	EPAS1, LOC129933655 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1768953	NM_001430.5(EPAS1):c.9T>G (p.Ala3=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773971	NM_001430.5(EPAS1):c.14A>G (p.Lys5Arg)	EPAS1, LOC129933655 (K5R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776151	NM_001430.5(EPAS1):c.15G>A (p.Lys5=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221570	NM_001430.5(EPAS1):c.16G>A (p.Glu6Lys)	EPAS1, LOC129933655 (E6K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787601	NM_001430.5(EPAS1):c.21G>A (p.Lys7=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1792196	NM_001430.5(EPAS1):c.24A>G (p.Lys8=)	EPAS1, LOC129933655	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	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 336234	NM_001430.5(EPAS1):c.26+8G>A	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 4	GUncertain significance
Select item 2965459	NM_001430.5(EPAS1):c.26+12T>C	EPAS1, LOC129933655	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292841	NM_001430.5(EPAS1):c.26+179G>A	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267570	NM_001430.5(EPAS1):c.26+315G>C	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3221648	NM_001430.5(EPAS1):c.28A>T (p.Ser10Cys)	EPAS1 (S10C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1729956	NM_001430.5(EPAS1):c.32G>A (p.Ser11Asn)	EPAS1 (S11N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456384	NM_001430.5(EPAS1):c.35C>T (p.Ser12Leu)	EPAS1 (S12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456498	NM_001430.5(EPAS1):c.36G>A (p.Ser12=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 897664	NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys)	EPAS1 (R14K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GBenign/Likely benign
Select item 3221652	NM_001430.5(EPAS1):c.42G>C (p.Arg14Ser)	EPAS1 (R14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221651	NM_001430.5(EPAS1):c.42G>A (p.Arg14=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1743958	NM_001430.5(EPAS1):c.48G>A (p.Lys16=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2450323	NM_001430.5(EPAS1):c.51G>A (p.Glu17=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1746031	NM_001430.5(EPAS1):c.51G>T (p.Glu17Asp)	EPAS1 (E17D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221659	NM_001430.5(EPAS1):c.54G>A (p.Lys18=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1749147	NM_001430.5(EPAS1):c.56C>A (p.Ser19Tyr)	EPAS1 (S19Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2626657	NM_001430.5(EPAS1):c.58C>T (p.Arg20Trp)	EPAS1 (R20W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1750379	NM_001430.5(EPAS1):c.58C>G (p.Arg20Gly)	EPAS1 (R20G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1753335	NM_001430.5(EPAS1):c.63T>C (p.Asp21=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1754404	NM_001430.5(EPAS1):c.65C>T (p.Ala22Val)	EPAS1 (A22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1754998	NM_001430.5(EPAS1):c.66T>C (p.Ala22=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1756570	NM_001430.5(EPAS1):c.69G>A (p.Ala23=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1759211	NM_001430.5(EPAS1):c.74G>C (p.Cys25Ser)	EPAS1 (C25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760206	NM_001430.5(EPAS1):c.76C>T (p.Arg26Trp)	EPAS1 (R26W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1760201	NM_001430.5(EPAS1):c.76C>A (p.Arg26=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1760686	NM_001430.5(EPAS1):c.77G>A (p.Arg26Gln)	EPAS1 (R26Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221675	NM_001430.5(EPAS1):c.78G>A (p.Arg26=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2626644	NM_001430.5(EPAS1):c.79C>A (p.Arg27=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761996	NM_001430.5(EPAS1):c.80G>A (p.Arg27Gln)	EPAS1 (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763627	NM_001430.5(EPAS1):c.84C>G (p.Ser28Arg)	EPAS1 (S28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1763993	NM_001430.5(EPAS1):c.85A>G (p.Lys29Glu)	EPAS1 (K29E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456824	NM_001430.5(EPAS1):c.87G>A (p.Lys29=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1765801	NM_001430.5(EPAS1):c.90G>A (p.Glu30=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1766485	NM_001430.5(EPAS1):c.92C>T (p.Thr31Met)	EPAS1 (T31M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1766838	NM_001430.5(EPAS1):c.93G>A (p.Thr31=)	EPAS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1767508	NM_001430.5(EPAS1):c.95A>C (p.Glu32Ala)	EPAS1 (E32A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767893	NM_001430.5(EPAS1):c.96G>A (p.Glu32=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2560743	NM_001430.5(EPAS1):c.99G>T (p.Val33=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221515	NM_001430.5(EPAS1):c.102C>T (p.Phe34=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1773819	NM_001430.5(EPAS1):c.103T>C (p.Tyr35His)	EPAS1 (Y35H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1776510	NM_001430.5(EPAS1):c.104A>T (p.Tyr35Phe)	EPAS1 (Y35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221519	NM_001430.5(EPAS1):c.107A>C (p.Glu36Ala)	EPAS1 (E36A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1741943	NM_001430.5(EPAS1):c.117T>C (p.His39=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1755290	NM_001430.5(EPAS1):c.122T>G (p.Leu41Arg)	EPAS1 (L41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758030	NM_001430.5(EPAS1):c.123G>T (p.Leu41=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2588677	NM_001430.5(EPAS1):c.124C>A (p.Pro42Thr)	EPAS1 (P42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1767494	NM_001430.5(EPAS1):c.127C>G (p.Leu43Val)	EPAS1 (L43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769322	NM_001430.5(EPAS1):c.129G>A (p.Leu43=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1769865	NM_001430.5(EPAS1):c.131C>T (p.Pro44Leu)	EPAS1 (P44L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1770097	NM_001430.5(EPAS1):c.132C>G (p.Pro44=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2626659	NM_001430.5(EPAS1):c.133C>G (p.His45Asp)	EPAS1 (H45D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1770794	NM_001430.5(EPAS1):c.135C>T (p.His45=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2588615	NM_001430.5(EPAS1):c.136A>T (p.Ser46Cys)	EPAS1 (S46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771258	NM_001430.5(EPAS1):c.137G>C (p.Ser46Thr)	EPAS1 (S46T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1771255	NM_001430.5(EPAS1):c.137G>A (p.Ser46Asn)	EPAS1 (S46N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2497570	NM_001430.5(EPAS1):c.138T>C (p.Ser46=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772003	NM_001430.5(EPAS1):c.140T>G (p.Val47Gly)	EPAS1 (V47G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 336235	NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr)	EPAS1 (S49Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3221554	NM_001430.5(EPAS1):c.149A>T (p.His50Leu)	EPAS1 (H50L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1774391	NM_001430.5(EPAS1):c.151C>T (p.Leu51=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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