"Ambry Genetics"[submitter] AND "EGLN1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 863658	NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile)	EGLN1 (V425I)	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 3227693	NM_022051.3(EGLN1):c.1270G>A (p.Asp424Asn)	EGLN1 (D424N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1764062	NM_022051.3(EGLN1):c.1265G>T (p.Gly422Val)	EGLN1 (G422V)	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 1763923	NM_022051.3(EGLN1):c.1264G>T (p.Gly422Cys)	EGLN1 (G422C)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1372261	NM_022051.3(EGLN1):c.1264G>A (p.Gly422Ser)	EGLN1 (G422S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1763554	NM_022051.3(EGLN1):c.1263C>G (p.Val421=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 697679	NM_022051.3(EGLN1):c.1263C>T (p.Val421=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 1763477	NM_022051.3(EGLN1):c.1262T>C (p.Val421Ala)	EGLN1 (V421A)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1763087	NM_022051.3(EGLN1):c.1260G>T (p.Ser420=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1763040	NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 2342577	NM_022051.3(EGLN1):c.1257T>A (p.Asp419Glu)	EGLN1 (D419E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1546639	NM_022051.3(EGLN1):c.1257T>C (p.Asp419=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 3227692	NM_022051.3(EGLN1):c.1254A>G (p.Ser418=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3227691	NM_022051.3(EGLN1):c.1253C>T (p.Ser418Leu)	EGLN1 (S418L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3227690	NM_022051.3(EGLN1):c.1252T>A (p.Ser418Thr)	EGLN1 (S418T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1519938	NM_022051.3(EGLN1):c.1250C>T (p.Pro417Leu)	EGLN1 (P417L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1760195	NM_022051.3(EGLN1):c.1249C>T (p.Pro417Ser)	EGLN1 (P417S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1759180	NM_022051.3(EGLN1):c.1245_1247del (p.Asn415del)	EGLN1 (N415del)	Deletion (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 661092	NM_022051.3(EGLN1):c.1244A>G (p.Asn415Ser)	EGLN1 (N415S)	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 3227689	NM_022051.3(EGLN1):c.1243A>G (p.Asn415Asp)	EGLN1 (N415D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1758215	NM_022051.3(EGLN1):c.1240C>T (p.Leu414Phe)	EGLN1 (L414F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1757206	NM_022051.3(EGLN1):c.1237G>A (p.Glu413Lys)	EGLN1 (E413K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1428646	NM_022051.3(EGLN1):c.1234G>A (p.Val412Ile)	EGLN1 (V412I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1755515	NM_022051.3(EGLN1):c.1230G>C (p.Val410=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1754900	NM_022051.3(EGLN1):c.1228G>T (p.Val410Leu)	EGLN1 (V410L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1754845	NM_022051.3(EGLN1):c.1228G>A (p.Val410Met)	EGLN1 (V410M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1754648	NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3 +2 more	GLikely benign
Select item 2626700	NM_022051.3(EGLN1):c.1226G>A (p.Gly409Asp)	EGLN1 (G409D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3274794	NM_022051.3(EGLN1):c.1225G>C (p.Gly409Arg)	EGLN1 (G409R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2497584	NM_022051.3(EGLN1):c.1221A>G (p.Glu407=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1292828	NM_022051.3(EGLN1):c.1217-24A>T	EGLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257712	NM_022051.3(EGLN1):c.1217-89A>G	EGLN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2626693	NM_022051.3(EGLN1):c.1216G>A (p.Gly406Ser)	EGLN1 (G406S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1127565	NM_022051.3(EGLN1):c.1209T>C (p.Tyr403=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1748776	NM_022051.3(EGLN1):c.1206A>G (p.Lys402=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1100994	NM_022051.3(EGLN1):c.1203A>G (p.Val401=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1747991	NM_022051.3(EGLN1):c.1202T>G (p.Val401Gly)	EGLN1 (V401G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2450379	NM_022051.3(EGLN1):c.1194A>G (p.Arg398=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1745560	NM_022051.3(EGLN1):c.1194A>C (p.Arg398=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1745476	NM_022051.3(EGLN1):c.1193G>A (p.Arg398Gln)	EGLN1 (R398Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1745260	NM_022051.3(EGLN1):c.1192C>T (p.Arg398Ter)	EGLN1 (R398*)	Single nucleotide variant (3 prime UTR variant +2 more)	Erythrocytosis, familial, 3 +1 more	GConflicting classifications of pathogenicity
Select item 3227688	NM_022051.3(EGLN1):c.1191A>G (p.Ala397=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1743436	NM_022051.3(EGLN1):c.1186A>C (p.Arg396=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1492004	NM_022051.3(EGLN1):c.1182T>A (p.Asp394Glu)	EGLN1 (D394E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 1741453	NM_022051.3(EGLN1):c.1179A>T (p.Ala393=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1741424	NM_022051.3(EGLN1):c.1179A>G (p.Ala393=)	EGLN1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1740369	NM_022051.3(EGLN1):c.1174G>A (p.Asp392Asn)	EGLN1 (D392N)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3274802	NM_022051.3(EGLN1):c.1161T>C (p.Thr387=)	EGLN1 (C342R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1737025	NM_022051.3(EGLN1):c.1161T>G (p.Thr387=)	EGLN1 (C342G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1735376	NM_022051.3(EGLN1):c.1156A>G (p.Ile386Val)	EGLN1 (N340S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2626704	NM_022051.3(EGLN1):c.1155A>G (p.Ala385=)	EGLN1 (N340D)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1734399	NM_022051.3(EGLN1):c.1152C>T (p.Tyr384=)	EGLN1 (R339C)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2450371	NM_022051.3(EGLN1):c.1143T>A (p.Ala381=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3274796	NM_022051.3(EGLN1):c.1142C>G (p.Ala381Gly)	EGLN1 (A381G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1731255	NM_022051.3(EGLN1):c.1140T>C (p.Tyr380=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2565122	NM_022051.3(EGLN1):c.1138T>C (p.Tyr380His)	EGLN1 (Y380H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1729950	NM_022051.3(EGLN1):c.1137A>G (p.Ala379=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1728806	NM_022051.3(EGLN1):c.1132C>T (p.Pro378Ser)	EGLN1 (P378S)	Single nucleotide variant (missense variant +1 more)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1728400	NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2565126	NM_022051.3(EGLN1):c.1129C>G (p.Gln377Glu)	EGLN1 (Q377E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1798823	NM_022051.3(EGLN1):c.1125A>G (p.Glu375=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1798268	NM_022051.3(EGLN1):c.1122T>C (p.His374=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1148237	NM_022051.3(EGLN1):c.1119T>A (p.Pro373=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1796546	NM_022051.3(EGLN1):c.1117C>T (p.Pro373Ser)	EGLN1 (P373S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274803	NM_022051.3(EGLN1):c.1112G>T (p.Arg371Leu)	EGLN1 (R371L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1794273	NM_022051.3(EGLN1):c.1108C>T (p.Arg370Cys)	EGLN1 (R370C)	Single nucleotide variant (missense variant +1 more)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 1793404	NM_022051.3(EGLN1):c.1104T>C (p.Ser368=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1791015	NM_022051.3(EGLN1):c.1097T>A (p.Phe366Tyr)	EGLN1 (F366Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1789742	NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 3227687	NM_022051.3(EGLN1):c.1089G>A (p.Leu363=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2450385	NM_022051.3(EGLN1):c.1083T>C (p.Asp361=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3227686	NM_022051.3(EGLN1):c.1082A>G (p.Asp361Gly)	EGLN1 (D361G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1784589	NM_022051.3(EGLN1):c.1075A>C (p.Lys359Gln)	EGLN1 (K359Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1784338	NM_022051.3(EGLN1):c.1074C>G (p.Pro358=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2626709	NM_022051.3(EGLN1):c.1072C>T (p.Pro358Ser)	EGLN1 (P358S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1782591	NM_022051.3(EGLN1):c.1068T>C (p.Ile356=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1781786	NM_022051.3(EGLN1):c.1066A>G (p.Ile356Val)	EGLN1 (I356V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1078280	NM_022051.3(EGLN1):c.1065C>T (p.Asp355=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3227685	NM_022051.3(EGLN1):c.1063G>A (p.Asp355Asn)	EGLN1 (D355N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1779657	NM_022051.3(EGLN1):c.1059T>G (p.Phe353Leu)	EGLN1 (F353L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1778320	NM_022051.3(EGLN1):c.1055A>G (p.Gln352Arg)	EGLN1 (Q352R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1777824	NM_022051.3(EGLN1):c.1053C>T (p.Ala351=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1776321	NM_022051.3(EGLN1):c.1049A>G (p.Lys350Arg)	EGLN1 (K350R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227684	NM_022051.3(EGLN1):c.1045G>A (p.Gly349Ser)	EGLN1 (G349S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3227683	NM_022051.3(EGLN1):c.1040C>T (p.Pro347Leu)	EGLN1 (P347L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1773304	NM_022051.3(EGLN1):c.1038T>C (p.Phe346=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1772539	NM_022051.3(EGLN1):c.1035T>G (p.Ile345Met)	EGLN1 (I345M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1385249	NM_022051.3(EGLN1):c.1026A>G (p.Ile342Met)	EGLN1 (I342M)	Single nucleotide variant (missense variant +1 more)	Erythrocytosis, familial, 3 +1 more	GUncertain significance
Select item 3227682	NM_022051.3(EGLN1):c.1020A>G (p.Gly340=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1757828	NM_022051.3(EGLN1):c.1020A>T (p.Gly340=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1745295	NM_022051.3(EGLN1):c.1016G>A (p.Ser339Asn)	EGLN1 (S339N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1738530	NM_022051.3(EGLN1):c.1014A>G (p.Val338=)	EGLN1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1408451	NM_022051.3(EGLN1):c.1012G>C (p.Val338Leu)	EGLN1 (V338L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1265678	NM_022051.3(EGLN1):c.1012-113C>T	EGLN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1790950	NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)	EGLN1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 3274781	NM_022051.3(EGLN1):c.995_1000del (p.Lys332_Trp334delinsArg)	EGLN1	Deletion (inframe_indel)	not specified	GUncertain significance
Select item 1768849	NM_022051.3(EGLN1):c.999C>G (p.Asp333Glu)	EGLN1 (D333E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768799	NM_022051.3(EGLN1):c.997G>T (p.Asp333Tyr)	EGLN1 (D333Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768754	NM_022051.3(EGLN1):c.996A>T (p.Lys332Asn)	EGLN1 (K332N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768678	NM_022051.3(EGLN1):c.993T>C (p.Asn331=)	EGLN1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign

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