EGLN1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296142	NM_022051.3(EGLN1):c.*2598G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296143	NM_022051.3(EGLN1):c.*2577G>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 876047	NM_022051.3(EGLN1):c.*2491C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296144	NM_022051.3(EGLN1):c.2416_2419del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GLikely benign
Select item 296145	NM_022051.3(EGLN1):c.*2235C>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296146	NM_022051.3(EGLN1):c.*2096T>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296147	NM_022051.3(EGLN1):c.*2061C>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296148	NM_022051.3(EGLN1):c.*2044G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296149	NM_022051.3(EGLN1):c.*2043C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 877010	NM_022051.3(EGLN1):c.*2023A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296150	NM_022051.3(EGLN1):c.*1965A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 296151	NM_022051.3(EGLN1):c.*1919T>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296152	NM_022051.3(EGLN1):c.*1911C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296153	NM_022051.3(EGLN1):c.*1880A>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 874223	NM_022051.3(EGLN1):c.*1854T>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 874224	NM_022051.3(EGLN1):c.*1825G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296154	NM_022051.3(EGLN1):c.1802_1803dup	EGLN1	Duplication (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 296155	NM_022051.3(EGLN1):c.*1787T>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 296156	NM_022051.3(EGLN1):c.*1731C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296157	NM_022051.3(EGLN1):c.*1487C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296158	NM_022051.3(EGLN1):c.1434_1436del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GLikely benign
Select item 296159	NM_022051.3(EGLN1):c.1428_1429del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 296160	NM_022051.3(EGLN1):c.*1410ATTTT[1]	EGLN1	Microsatellite (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 874225	NM_022051.3(EGLN1):c.*1326T>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296161	NM_022051.3(EGLN1):c.*1288C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296162	NM_022051.3(EGLN1):c.1236_1237insTG	EGLN1	Insertion (3 prime UTR variant)	Familial erythrocytosis	GLikely benign
Select item 296163	NM_022051.3(EGLN1):c.*1199A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296164	NM_022051.3(EGLN1):c.*1185T>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 875144	NM_022051.3(EGLN1):c.*1088C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296165	NM_022051.3(EGLN1):c.*1010C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296166	NM_022051.3(EGLN1):c.*989T>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 875145	NM_022051.3(EGLN1):c.*972G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296167	NM_022051.3(EGLN1):c.*965A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296168	NM_022051.3(EGLN1):c.*944C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 875146	NM_022051.3(EGLN1):c.*934T>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 876105	NM_022051.3(EGLN1):c.*841C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296169	NM_022051.3(EGLN1):c.*798C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296170	NM_022051.3(EGLN1):c.*796C>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296171	NM_022051.3(EGLN1):c.*758GTTTT[2]	EGLN1	Microsatellite (3 prime UTR variant)	Familial erythrocytosis	GLikely benign
Select item 296172	NM_022051.3(EGLN1):c.*663C>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 876106	NM_022051.3(EGLN1):c.*650A>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296173	NM_022051.3(EGLN1):c.*648del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GBenign
Select item 296174	NM_022051.3(EGLN1):c.*622A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296175	NM_022051.3(EGLN1):c.*603C>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 876107	NM_022051.3(EGLN1):c.*575A>T	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 296176	NM_022051.3(EGLN1):c.555_559del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 296177	NM_022051.3(EGLN1):c.*535T>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296178	NM_022051.3(EGLN1):c.*494G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 296179	NM_022051.3(EGLN1):c.*452A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GBenign
Select item 877059	NM_022051.3(EGLN1):c.*434T>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296180	NM_022051.3(EGLN1):c.*421A>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 877060	NM_022051.3(EGLN1):c.*387G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 877061	NM_022051.3(EGLN1):c.*371A>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296181	NM_022051.3(EGLN1):c.261_263del	EGLN1	Deletion (3 prime UTR variant)	Familial erythrocytosis	GUncertain significance
Select item 2724730	NM_022051.3(EGLN1):c.*92G>C	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2421487	NM_022051.3(EGLN1):c.*68G>A	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GUncertain significance
Select item 296182	NM_022051.3(EGLN1):c.*21C>G	EGLN1	Single nucleotide variant (3 prime UTR variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 1468387	NM_022051.3(EGLN1):c.1279T>C (p.Ter427Gln)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	GUncertain significance
Select item 2103645	NM_022051.3(EGLN1):c.1278C>T (p.Phe426=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	GLikely benign
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 296183	NM_022051.3(EGLN1):c.1272C>T (p.Asp424=)	EGLN1	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	GBenign
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)	Erythrocytosis, familial, 3 +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 465822	NM_022051.3(EGLN1):c.1259C>T (p.Ser420Leu)	EGLN1 (S420L)	Single nucleotide variant (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	GBenign
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)	Erythrocytosis, familial, 3 +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)	not specified +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 2765915	NM_022051.3(EGLN1):c.1234dup (p.Val412fs)	EGLN1 (V412fs)	Duplication (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	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)	Erythrocytosis, familial, 3 +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 2990132	NM_022051.3(EGLN1):c.1217-7C>T	EGLN1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GLikely benign
Select item 296184	NM_022051.3(EGLN1):c.1217-10dup	EGLN1	Duplication (intron variant)	Familial erythrocytosis +1 more	GConflicting classifications of pathogenicity
Select item 296185	NM_022051.3(EGLN1):c.1217-10del	EGLN1	Deletion (intron variant)	Familial erythrocytosis +1 more	GBenign
Select item 1233085	NM_022051.3(EGLN1):c.1217-23T>A	EGLN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292828	NM_022051.3(EGLN1):c.1217-24A>T	EGLN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1243379	NM_022051.3(EGLN1):c.1217-24del	EGLN1	Deletion (intron variant)	not provided	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 2167541	NM_022051.3(EGLN1):c.1216+20A>G	EGLN1	Single nucleotide variant (intron variant)	Erythrocytosis, familial, 3	GLikely benign

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