EPAS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3275723	NM_001430.5(EPAS1):c.29G>A (p.Ser10Asn)	EPAS1 (S10N)	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 3275657	NM_001430.5(EPAS1):c.36G>T (p.Ser12=)	EPAS1	Single nucleotide variant (synonymous 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)	not provided +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 3275646	NM_001430.5(EPAS1):c.68C>T (p.Ala23Val)	EPAS1 (A23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3275680	NM_001430.5(EPAS1):c.102C>G (p.Phe34Leu)	EPAS1 (F34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases +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 3275734	NM_001430.5(EPAS1):c.144C>T (p.Ser48=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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
Select item 1776095	NM_001430.5(EPAS1):c.159G>A (p.Lys53=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2588491	NM_001430.5(EPAS1):c.162C>T (p.Ala54=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275676	NM_001430.5(EPAS1):c.166A>G (p.Ile56Val)	EPAS1 (I56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1778300	NM_001430.5(EPAS1):c.169A>G (p.Met57Val)	EPAS1 (M57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565079	NM_001430.5(EPAS1):c.172C>A (p.Arg58=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1779549	NM_001430.5(EPAS1):c.175C>T (p.Leu59=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1779967	NM_001430.5(EPAS1):c.177G>T (p.Leu59=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1779963	NM_001430.5(EPAS1):c.177G>C (p.Leu59=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780332	NM_001430.5(EPAS1):c.179C>T (p.Ala60Val)	EPAS1 (A60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456403	NM_001430.5(EPAS1):c.181A>G (p.Ile61Val)	EPAS1 (I61V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1781121	NM_001430.5(EPAS1):c.183C>T (p.Ile61=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1782656	NM_001430.5(EPAS1):c.191T>G (p.Leu64Arg)	EPAS1 (L64R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1784517	NM_001430.5(EPAS1):c.201C>T (p.His67=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1784512	NM_001430.5(EPAS1):c.201C>A (p.His67Gln)	EPAS1 (H67Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221595	NM_001430.5(EPAS1):c.202A>G (p.Lys68Glu)	EPAS1 (K68E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2450327	NM_001430.5(EPAS1):c.203A>C (p.Lys68Thr)	EPAS1 (K68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785193	NM_001430.5(EPAS1):c.205C>T (p.Leu69Phe)	EPAS1 (L69F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1785535	NM_001430.5(EPAS1):c.207C>T (p.Leu69=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1785525	NM_001430.5(EPAS1):c.207C>G (p.Leu69=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1785706	NM_001430.5(EPAS1):c.208C>T (p.Leu70Phe)	EPAS1 (L70F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1786374	NM_001430.5(EPAS1):c.212C>T (p.Ser71Phe)	EPAS1 (S71F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275666	NM_001430.5(EPAS1):c.216A>T (p.Ser72=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2712979	NM_001430.5(EPAS1):c.217+11C>G	EPAS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021276	NM_001430.5(EPAS1):c.217+17C>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249140	NM_001430.5(EPAS1):c.218-103A>T	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262985	NM_001430.5(EPAS1):c.218-55C>A	EPAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3056233	NM_001430.5(EPAS1):c.218-9_218-8dup	EPAS1	Duplication (intron variant)	EPAS1-related disorder	GLikely benign
Select item 2776122	NM_001430.5(EPAS1):c.218-10_218-8del	EPAS1	Deletion (intron variant)	not provided	GBenign

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