ClinVar for Gene (Select 2034) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360706	NM_001430.5(EPAS1):c.2530T>C (p.Cys844Arg)	EPAS1 (C844R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3275747	NM_001430.5(EPAS1):c.784A>G (p.Thr262Ala)	EPAS1 (T262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275746	NM_001430.5(EPAS1):c.1856C>T (p.Pro619Leu)	EPAS1 (P619L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275745	NM_001430.5(EPAS1):c.2402C>A (p.Pro801Gln)	EPAS1 (P801Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275744	NM_001430.5(EPAS1):c.2360C>T (p.Ser787Phe)	EPAS1 (S787F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275743	NM_001430.5(EPAS1):c.2262G>C (p.Lys754Asn)	EPAS1 (K754N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275741	NM_001430.5(EPAS1):c.639C>T (p.Gly213=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275740	NM_001430.5(EPAS1):c.958G>C (p.Glu320Gln)	EPAS1 (E320Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275739	NM_001430.5(EPAS1):c.402C>T (p.Phe134=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275738	NM_001430.5(EPAS1):c.701A>C (p.His234Pro)	EPAS1, LOC126806210 (H234P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275737	NM_001430.5(EPAS1):c.2600A>C (p.Asp867Ala)	EPAS1 (D867A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275736	NM_001430.5(EPAS1):c.1790C>A (p.Thr597Lys)	EPAS1 (T597K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275735	NM_001430.5(EPAS1):c.1141G>C (p.Ala381Pro)	EPAS1 (A381P)	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 3275733	NM_001430.5(EPAS1):c.992A>G (p.Asn331Ser)	EPAS1 (N331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275732	NM_001430.5(EPAS1):c.2425C>A (p.Gln809Lys)	EPAS1 (Q809K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275731	NM_001430.5(EPAS1):c.339A>G (p.Glu113=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275730	NM_001430.5(EPAS1):c.252C>A (p.Asp84Glu)	EPAS1 (D84E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275729	NM_001430.5(EPAS1):c.1471T>C (p.Ser491Pro)	EPAS1 (S491P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275728	NM_001430.5(EPAS1):c.749T>C (p.Met250Thr)	EPAS1, LOC126806210 (M250T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275727	NM_001430.5(EPAS1):c.2253G>A (p.Met751Ile)	EPAS1 (M751I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275726	NM_001430.5(EPAS1):c.1333C>T (p.His445Tyr)	EPAS1 (H445Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275725	NM_001430.5(EPAS1):c.546T>G (p.Thr182=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275724	NM_001430.5(EPAS1):c.526G>T (p.Val176Phe)	EPAS1, LOC126806210 (V176F)	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 3275722	NM_001430.5(EPAS1):c.2261A>G (p.Lys754Arg)	EPAS1 (K754R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275721	NM_001430.5(EPAS1):c.2316C>A (p.Gly772=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275720	NM_001430.5(EPAS1):c.2255C>A (p.Pro752Gln)	EPAS1 (P752Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275719	NM_001430.5(EPAS1):c.2300A>G (p.Gln767Arg)	EPAS1 (Q767R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275718	NM_001430.5(EPAS1):c.2271C>G (p.Ser757Arg)	EPAS1 (S757R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275717	NM_001430.5(EPAS1):c.1504G>A (p.Glu502Lys)	EPAS1 (E502K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275716	NM_001430.5(EPAS1):c.1694G>A (p.Ser565Asn)	EPAS1 (S565N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275715	NM_001430.5(EPAS1):c.2534A>G (p.Glu845Gly)	EPAS1 (E845G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275714	NM_001430.5(EPAS1):c.2455G>A (p.Val819Met)	EPAS1 (V819M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275713	NM_001430.5(EPAS1):c.2087G>A (p.Ser696Asn)	EPAS1 (S696N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275712	NM_001430.5(EPAS1):c.1538A>T (p.Asp513Val)	EPAS1 (D513V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275710	NM_001430.5(EPAS1):c.1546A>G (p.Ser516Gly)	EPAS1 (S516G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275709	NM_001430.5(EPAS1):c.1080A>T (p.Glu360Asp)	EPAS1 (E360D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275708	NM_001430.5(EPAS1):c.1342C>G (p.Gln448Glu)	EPAS1 (Q448E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275707	NM_001430.5(EPAS1):c.1332C>A (p.Ser444Arg)	EPAS1 (S444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275706	NM_001430.5(EPAS1):c.861G>T (p.Glu287Asp)	EPAS1 (E287D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275705	NM_001430.5(EPAS1):c.2169C>G (p.Ser723Arg)	EPAS1 (S723R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275704	NM_001430.5(EPAS1):c.894C>T (p.Thr298=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275703	NM_001430.5(EPAS1):c.2055G>C (p.Lys685Asn)	EPAS1 (K685N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275702	NM_001430.5(EPAS1):c.1749C>G (p.Phe583Leu)	EPAS1 (F583L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275700	NM_001430.5(EPAS1):c.1684C>A (p.His562Asn)	EPAS1 (H562N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275699	NM_001430.5(EPAS1):c.915C>T (p.Gly305=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275698	NM_001430.5(EPAS1):c.2360C>G (p.Ser787Cys)	EPAS1 (S787C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275697	NM_001430.5(EPAS1):c.291T>C (p.Gly97=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275696	NM_001430.5(EPAS1):c.926T>A (p.Met309Lys)	EPAS1 (M309K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275695	NM_001430.5(EPAS1):c.1287G>T (p.Lys429Asn)	EPAS1 (K429N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275694	NM_001430.5(EPAS1):c.1437C>T (p.Cys479=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275693	NM_001430.5(EPAS1):c.1830T>A (p.Asp610Glu)	EPAS1 (D610E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275692	NM_001430.5(EPAS1):c.1965G>A (p.Gly655=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275691	NM_001430.5(EPAS1):c.2477T>G (p.Leu826Arg)	EPAS1 (L826R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275690	NM_001430.5(EPAS1):c.1946C>A (p.Pro649His)	EPAS1 (P649H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275689	NM_001430.5(EPAS1):c.758A>G (p.Lys253Arg)	EPAS1, LOC126806210 (K253R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275688	NM_001430.5(EPAS1):c.552C>G (p.Asn184Lys)	EPAS1, LOC126806210 (N184K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275687	NM_001430.5(EPAS1):c.1302G>T (p.Pro434=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275686	NM_001430.5(EPAS1):c.1863T>C (p.Cys621=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275685	NM_001430.5(EPAS1):c.798T>A (p.Gly266=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275684	NM_001430.5(EPAS1):c.1876A>C (p.Thr626Pro)	EPAS1 (T626P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275683	NM_001430.5(EPAS1):c.2047T>C (p.Ser683Pro)	EPAS1 (S683P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275682	NM_001430.5(EPAS1):c.2207T>C (p.Met736Thr)	EPAS1 (M736T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275681	NM_001430.5(EPAS1):c.1832C>G (p.Ala611Gly)	EPAS1 (A611G)	Single nucleotide variant (missense 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 3275678	NM_001430.5(EPAS1):c.2083C>G (p.Leu695Val)	EPAS1 (L695V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275677	NM_001430.5(EPAS1):c.21G>C (p.Lys7Asn)	EPAS1, LOC129933655 (K7N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3275675	NM_001430.5(EPAS1):c.2001G>A (p.Leu667=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275672	NM_001430.5(EPAS1):c.1359C>G (p.Ser453Arg)	EPAS1 (S453R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275671	NM_001430.5(EPAS1):c.1480A>G (p.Asn494Asp)	EPAS1 (N494D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3275670	NM_001430.5(EPAS1):c.1412G>A (p.Ser471Asn)	EPAS1 (S471N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275669	NM_001430.5(EPAS1):c.2099T>C (p.Val700Ala)	EPAS1 (V700A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275668	NM_001430.5(EPAS1):c.695C>T (p.Pro232Leu)	EPAS1, LOC126806210 (P232L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275667	NM_001430.5(EPAS1):c.2385C>A (p.Ser795Arg)	EPAS1 (S795R)	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 3275664	NM_001430.5(EPAS1):c.800A>G (p.Tyr267Cys)	EPAS1 (Y267C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275663	NM_001430.5(EPAS1):c.365C>A (p.Thr122Lys)	EPAS1 (T122K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275662	NM_001430.5(EPAS1):c.2317C>T (p.Leu773=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275661	NM_001430.5(EPAS1):c.533A>G (p.Asn178Ser)	EPAS1, LOC126806210 (N178S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275660	NM_001430.5(EPAS1):c.477C>G (p.Ser159Arg)	EPAS1, LOC126806210 (S159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275659	NM_001430.5(EPAS1):c.1564A>G (p.Asn522Asp)	EPAS1 (N522D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275658	NM_001430.5(EPAS1):c.2478G>T (p.Leu826=)	EPAS1	Single nucleotide variant (synonymous 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 3275655	NM_001430.5(EPAS1):c.1339A>G (p.Thr447Ala)	EPAS1 (T447A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3275654	NM_001430.5(EPAS1):c.321C>T (p.Asp107=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275653	NM_001430.5(EPAS1):c.1269G>A (p.Glu423=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275652	NM_001430.5(EPAS1):c.492A>G (p.Thr164=)	EPAS1, LOC126806210	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275651	NM_001430.5(EPAS1):c.1743T>C (p.Ser581=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275650	NM_001430.5(EPAS1):c.1641C>G (p.Pro547=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275649	NM_001430.5(EPAS1):c.2328C>T (p.Pro776=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275648	NM_001430.5(EPAS1):c.1364C>T (p.Pro455Leu)	EPAS1 (P455L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275647	NM_001430.5(EPAS1):c.1363C>T (p.Pro455Ser)	EPAS1 (P455S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3275644	NM_001430.5(EPAS1):c.1404C>T (p.Thr468=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275643	NM_001430.5(EPAS1):c.852A>G (p.Leu284=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3275642	NM_001430.5(EPAS1):c.984C>G (p.Asn328Lys)	EPAS1 (N328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275641	NM_001430.5(EPAS1):c.2205G>T (p.Leu735Phe)	EPAS1 (L735F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3221686	NM_001430.5(EPAS1):c.990C>A (p.Arg330=)	EPAS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

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