EGLN1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1084

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
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)	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 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)	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 2765915	NM_022051.3(EGLN1):c.1234dup (p.Val412fs)	EGLN1 (V412fs)	Duplication (3 prime UTR variant +1 more)	Erythrocytosis, familial, 3	GUncertain significance

<< First< Prev

Page of 11