ClinVar for Gene (Select 2034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3221686	NM_001430.5(EPAS1):c.990C>A (p.Arg330=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221685	NM_001430.5(EPAS1):c.985C>A (p.Pro329Thr)	EPAS1 (P329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221684	NM_001430.5(EPAS1):c.959A>G (p.Glu320Gly)	EPAS1 (E320G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221683	NM_001430.5(EPAS1):c.930C>G (p.Leu310=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221682	NM_001430.5(EPAS1):c.923G>A (p.Arg308Gln)	EPAS1 (R308Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221681	NM_001430.5(EPAS1):c.904G>T (p.Val302Leu)	EPAS1 (V302L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221680	NM_001430.5(EPAS1):c.902A>T (p.Gln301Leu)	EPAS1 (Q301L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221679	NM_001430.5(EPAS1):c.865A>G (p.Met289Val)	EPAS1 (M289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221678	NM_001430.5(EPAS1):c.853G>A (p.Asp285Asn)	EPAS1 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221677	NM_001430.5(EPAS1):c.845A>T (p.His282Leu)	EPAS1 (H282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221676	NM_001430.5(EPAS1):c.832T>C (p.Tyr278His)	EPAS1 (Y278H)	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 3221674	NM_001430.5(EPAS1):c.771T>C (p.Cys257=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221673	NM_001430.5(EPAS1):c.737G>T (p.Ser246Ile)	EPAS1, LOC126806210 (S246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221672	NM_001430.5(EPAS1):c.721A>G (p.Ser241Gly)	EPAS1, LOC126806210 (S241G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221671	NM_001430.5(EPAS1):c.712C>T (p.Pro238Ser)	EPAS1, LOC126806210 (P238S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221670	NM_001430.5(EPAS1):c.711C>G (p.Ile237Met)	EPAS1, LOC126806210 (I237M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221669	NM_001430.5(EPAS1):c.709A>G (p.Ile237Val)	EPAS1, LOC126806210 (I237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221668	NM_001430.5(EPAS1):c.702C>A (p.His234Gln)	EPAS1, LOC126806210 (H234Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221667	NM_001430.5(EPAS1):c.675G>T (p.Met225Ile)	EPAS1, LOC126806210 (M225I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221666	NM_001430.5(EPAS1):c.659C>G (p.Ser220Cys)	EPAS1, LOC126806210 (S220C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221665	NM_001430.5(EPAS1):c.652C>T (p.Leu218=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221664	NM_001430.5(EPAS1):c.650C>G (p.Pro217Arg)	EPAS1, LOC126806210 (P217R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221663	NM_001430.5(EPAS1):c.596T>C (p.Val199Ala)	EPAS1, LOC126806210 (V199A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221662	NM_001430.5(EPAS1):c.567C>T (p.Thr189=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221661	NM_001430.5(EPAS1):c.560C>T (p.Ser187Leu)	EPAS1, LOC126806210 (S187L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221660	NM_001430.5(EPAS1):c.552C>A (p.Asn184Lys)	EPAS1, LOC126806210 (N184K)	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 3221658	NM_001430.5(EPAS1):c.506T>C (p.Phe169Ser)	EPAS1, LOC126806210 (F169S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221657	NM_001430.5(EPAS1):c.469A>G (p.Lys157Glu)	EPAS1, LOC126806210 (K157E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221656	NM_001430.5(EPAS1):c.469A>C (p.Lys157Gln)	EPAS1, LOC126806210 (K157Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221655	NM_001430.5(EPAS1):c.465T>G (p.Phe155Leu)	EPAS1, LOC126806210 (F155L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221654	NM_001430.5(EPAS1):c.461G>C (p.Gly154Ala)	EPAS1, LOC126806210 (G154A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221653	NM_001430.5(EPAS1):c.455G>A (p.Gly152Asp)	EPAS1, LOC126806210 (G152D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3221650	NM_001430.5(EPAS1):c.357G>A (p.Met119Ile)	EPAS1 (M119I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221649	NM_001430.5(EPAS1):c.309C>G (p.Thr103=)	EPAS1	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 3221647	NM_001430.5(EPAS1):c.268T>C (p.Leu90=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221646	NM_001430.5(EPAS1):c.2605G>T (p.Ala869Ser)	EPAS1 (A869S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221645	NM_001430.5(EPAS1):c.2597T>C (p.Leu866Pro)	EPAS1 (L866P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221644	NM_001430.5(EPAS1):c.2594C>T (p.Ala865Val)	EPAS1 (A865V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221643	NM_001430.5(EPAS1):c.2581G>T (p.Asp861Tyr)	EPAS1 (D861Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221642	NM_001430.5(EPAS1):c.2581G>C (p.Asp861His)	EPAS1 (D861H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221641	NM_001430.5(EPAS1):c.2580G>T (p.Gly860=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221640	NM_001430.5(EPAS1):c.2579G>A (p.Gly860Glu)	EPAS1 (G860E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221639	NM_001430.5(EPAS1):c.2554G>C (p.Gly852Arg)	EPAS1 (G852R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221638	NM_001430.5(EPAS1):c.2545C>T (p.Pro849Ser)	EPAS1 (P849S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221637	NM_001430.5(EPAS1):c.2542G>C (p.Val848Leu)	EPAS1 (V848L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221636	NM_001430.5(EPAS1):c.2520C>T (p.Thr840=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221634	NM_001430.5(EPAS1):c.2495A>T (p.Glu832Val)	EPAS1 (E832V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221633	NM_001430.5(EPAS1):c.2488T>G (p.Ser830Ala)	EPAS1 (S830A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221632	NM_001430.5(EPAS1):c.2474G>T (p.Arg825Leu)	EPAS1 (R825L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221631	NM_001430.5(EPAS1):c.2472C>T (p.Ser824=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221630	NM_001430.5(EPAS1):c.2436C>T (p.Ser812=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221629	NM_001430.5(EPAS1):c.2400C>T (p.Pro800=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221628	NM_001430.5(EPAS1):c.2394G>A (p.Arg798=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221627	NM_001430.5(EPAS1):c.2379G>C (p.Glu793Asp)	EPAS1 (E793D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221626	NM_001430.5(EPAS1):c.2371C>T (p.Pro791Ser)	EPAS1 (P791S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221625	NM_001430.5(EPAS1):c.2369G>T (p.Ser790Ile)	EPAS1 (S790I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221624	NM_001430.5(EPAS1):c.2366T>G (p.Ile789Ser)	EPAS1 (I789S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221623	NM_001430.5(EPAS1):c.2356C>T (p.Pro786Ser)	EPAS1 (P786S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221622	NM_001430.5(EPAS1):c.2354C>G (p.Pro785Arg)	EPAS1 (P785R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221621	NM_001430.5(EPAS1):c.2324A>T (p.His775Leu)	EPAS1 (H775L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3221619	NM_001430.5(EPAS1):c.2284A>G (p.Asn762Asp)	EPAS1 (N762D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221618	NM_001430.5(EPAS1):c.2274A>T (p.Ala758=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221617	NM_001430.5(EPAS1):c.2274A>C (p.Ala758=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221616	NM_001430.5(EPAS1):c.2256G>T (p.Pro752=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221615	NM_001430.5(EPAS1):c.2245C>T (p.Pro749Ser)	EPAS1 (P749S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221614	NM_001430.5(EPAS1):c.2228T>G (p.Leu743Arg)	EPAS1 (L743R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221613	NM_001430.5(EPAS1):c.2218A>G (p.Met740Val)	EPAS1 (M740V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221612	NM_001430.5(EPAS1):c.2215C>A (p.Arg739=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 3221610	NM_001430.5(EPAS1):c.2200C>T (p.His734Tyr)	EPAS1 (H734Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221609	NM_001430.5(EPAS1):c.2175G>A (p.Gly725=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221608	NM_001430.5(EPAS1):c.2164C>T (p.Leu722=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221607	NM_001430.5(EPAS1):c.2164C>G (p.Leu722Val)	EPAS1 (L722V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221606	NM_001430.5(EPAS1):c.2161G>T (p.Asp721Tyr)	EPAS1 (D721Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221605	NM_001430.5(EPAS1):c.2159A>C (p.Gln720Pro)	EPAS1 (Q720P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221603	NM_001430.5(EPAS1):c.2140T>C (p.Tyr714His)	EPAS1 (Y714H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221602	NM_001430.5(EPAS1):c.2082G>T (p.Val694=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221601	NM_001430.5(EPAS1):c.2081T>C (p.Val694Ala)	EPAS1 (V694A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221599	NM_001430.5(EPAS1):c.2079C>A (p.Asp693Glu)	EPAS1 (D693E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221598	NM_001430.5(EPAS1):c.2046G>A (p.Arg682=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221597	NM_001430.5(EPAS1):c.2042C>A (p.Thr681Lys)	EPAS1 (T681K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3221596	NM_001430.5(EPAS1):c.2038A>G (p.Lys680Glu)	EPAS1 (K680E)	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 3221594	NM_001430.5(EPAS1):c.2025T>C (p.His675=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221593	NM_001430.5(EPAS1):c.2014T>G (p.Ser672Ala)	EPAS1 (S672A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3221592	NM_001430.5(EPAS1):c.2007C>T (p.Pro669=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221591	NM_001430.5(EPAS1):c.1996C>T (p.Pro666Ser)	EPAS1 (P666S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221590	NM_001430.5(EPAS1):c.1974C>G (p.Arg658=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221589	NM_001430.5(EPAS1):c.1971G>C (p.Gln657His)	EPAS1 (Q657H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221587	NM_001430.5(EPAS1):c.1962C>T (p.Val654=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3221586	NM_001430.5(EPAS1):c.1956G>C (p.Trp652Cys)	EPAS1 (W652C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221585	NM_001430.5(EPAS1):c.1925A>T (p.Asp642Val)	EPAS1 (D642V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221584	NM_001430.5(EPAS1):c.1909A>T (p.Thr637Ser)	EPAS1 (T637S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221583	NM_001430.5(EPAS1):c.1907A>T (p.Asn636Ile)	EPAS1 (N636I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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