"Ambry Genetics"[submitter] AND "EPAS1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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
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 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 3221611	NM_001430.5(EPAS1):c.220T>C (p.Cys74Arg)	EPAS1 (C74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787754	NM_001430.5(EPAS1):c.220T>G (p.Cys74Gly)	EPAS1 (C74G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1787913	NM_001430.5(EPAS1):c.221G>C (p.Cys74Ser)	EPAS1 (C74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565063	NM_001430.5(EPAS1):c.224C>G (p.Ser75Cys)	EPAS1 (S75C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788397	NM_001430.5(EPAS1):c.224C>T (p.Ser75Phe)	EPAS1 (S75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1788610	NM_001430.5(EPAS1):c.225T>C (p.Ser75=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221620	NM_001430.5(EPAS1):c.230A>G (p.Asn77Ser)	EPAS1 (N77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1789546	NM_001430.5(EPAS1):c.231C>T (p.Asn77=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1789703	NM_001430.5(EPAS1):c.232G>C (p.Glu78Gln)	EPAS1 (E78Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789701	NM_001430.5(EPAS1):c.232G>A (p.Glu78Lys)	EPAS1 (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790267	NM_001430.5(EPAS1):c.236C>T (p.Ser79Phe)	EPAS1 (S79F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1790414	NM_001430.5(EPAS1):c.237C>T (p.Ser79=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 898828	NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	EPAS1 (E80K)	Single nucleotide variant (missense variant)	Erythrocytosis, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1790669	NM_001430.5(EPAS1):c.239A>G (p.Glu80Gly)	EPAS1 (E80G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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