"GeneDx"[submitter] AND "ELAC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1177697	NM_018127.7(ELAC2):c.*320G>A	ELAC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287594	NM_018127.7(ELAC2):c.*280T>A	ELAC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1234592	NM_018127.7(ELAC2):c.*206C>T	ELAC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1239530	NM_018127.7(ELAC2):c.*151C>G	ELAC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1203288	NM_018127.7(ELAC2):c.*33G>T	ELAC2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1504125	NM_018127.7(ELAC2):c.2434C>T (p.Arg812Trp)	ELAC2 (R811W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 516751	NM_018127.7(ELAC2):c.2409G>A (p.Leu803=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 385026	NM_018127.7(ELAC2):c.2403C>T (p.Gly801=)	ELAC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 220685	NM_018127.7(ELAC2):c.2376G>A (p.Ala792=)	ELAC2	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 2 +2 more	GLikely benign
Select item 408862	NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val)	ELAC2 (A792V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2076094	NM_018127.7(ELAC2):c.2351A>G (p.Lys784Arg)	ELAC2 (K783R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5058	NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)	ELAC2 (R781H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1218920	NM_018127.7(ELAC2):c.2254-36C>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674688	NM_018127.7(ELAC2):c.2254-191G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269095	NM_018127.7(ELAC2):c.2254-211G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198970	NM_018127.7(ELAC2):c.2253+317G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227479	NM_018127.7(ELAC2):c.2253+171C>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215563	NM_018127.7(ELAC2):c.2253+29C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389991	NM_018127.7(ELAC2):c.2151G>A (p.Ala717=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 2079196	NM_018127.7(ELAC2):c.2144del (p.Met715fs)	ELAC2 (M675fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 381413	NM_018127.7(ELAC2):c.2130C>T (p.Ser710=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 512286	NM_018127.7(ELAC2):c.2109-6C>T	ELAC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382985	NM_018127.7(ELAC2):c.2109-17C>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 1235138	NM_018127.7(ELAC2):c.2109-145T>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190395	NM_018127.7(ELAC2):c.2109-201C>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676214	NM_018127.7(ELAC2):c.2108+73G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194849	NM_018127.7(ELAC2):c.2108+54G>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506860	NM_018127.7(ELAC2):c.2108+14G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GBenign
Select item 513599	NM_018127.7(ELAC2):c.2108+13G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 386604	NM_018127.7(ELAC2):c.1908+16G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 380022	NM_018127.7(ELAC2):c.1893A>G (p.Thr631=)	ELAC2	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 514400	NM_018127.7(ELAC2):c.1884G>A (p.Leu628=)	ELAC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1260340	NM_018127.7(ELAC2):c.1809-75G>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220092	NM_018127.7(ELAC2):c.1809-150T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287996	NM_018127.7(ELAC2):c.1809-252C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678504	NM_018127.7(ELAC2):c.1808+233G>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293293	NM_018127.7(ELAC2):c.1808+229T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182888	NM_018127.7(ELAC2):c.1808+26G>C	ELAC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 506658	NM_018127.7(ELAC2):c.1731G>C (p.Leu577=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 382473	NM_018127.7(ELAC2):c.1692C>T (p.Arg564=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1207799	NM_018127.7(ELAC2):c.1660-263A>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220314	NM_018127.7(ELAC2):c.1659+258A>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280617	NM_018127.7(ELAC2):c.1659+138T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200031	NM_018127.7(ELAC2):c.1659+116T>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 5056	NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	ELAC2 (A541T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 513736	NM_018127.7(ELAC2):c.1575C>T (p.Cys525=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 379971	NM_018127.7(ELAC2):c.1560A>G (p.Thr520=)	ELAC2	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 515748	NM_018127.7(ELAC2):c.1521C>T (p.Ser507=)	ELAC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1194465	NM_018127.7(ELAC2):c.1521-274dup	ELAC2	Duplication (intron variant)	not provided	GLikely benign
Select item 1287067	NM_018127.7(ELAC2):c.1521-258del	ELAC2	Deletion (intron variant)	not provided	GBenign
Select item 1193042	NM_018127.7(ELAC2):c.1521-259_1521-258del	ELAC2	Deletion (intron variant)	not provided	GLikely benign
Select item 674695	NM_018127.7(ELAC2):c.1520+182dup	ELAC2	Duplication (intron variant)	not provided	GBenign
Select item 676213	NM_018127.7(ELAC2):c.1520+41C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384246	NM_018127.7(ELAC2):c.1479G>A (p.Pro493=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 241270	NM_018127.7(ELAC2):c.1479G>C (p.Pro493=)	ELAC2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 2574724	NM_018127.7(ELAC2):c.1478C>T (p.Pro493Leu)	ELAC2 (P453L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 452048	NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)	ELAC2 (E482* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1253068	NM_018127.7(ELAC2):c.1424-284C>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683508	NM_018127.7(ELAC2):c.1423+308C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678503	NM_018127.7(ELAC2):c.1423+239C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219462	NM_018127.7(ELAC2):c.1423+208G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212954	NM_018127.7(ELAC2):c.1423+167G>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678591	NM_018127.7(ELAC2):c.1423+152T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197634	NM_018127.7(ELAC2):c.1423+116T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 474559	NM_018127.7(ELAC2):c.1390A>T (p.Arg464Trp)	ELAC2 (R464W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 380508	NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=)	ELAC2	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 420954	NM_018127.7(ELAC2):c.1305-8delinsCTCTC	ELAC2	Indel (intron variant)	Combined oxidative phosphorylation defect type 17 +2 more	GBenign/Likely benign
Select item 419948	NM_018127.7(ELAC2):c.1305-16CT[6]	ELAC2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 379970	NM_018127.7(ELAC2):c.1305-8T>C	ELAC2	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 1193030	NM_018127.7(ELAC2):c.1305-12_1305-11insCTCT	ELAC2	Insertion (intron variant)	not provided	GLikely benign
Select item 1234031	NM_018127.7(ELAC2):c.1305-225G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683506	NM_018127.7(ELAC2):c.1305-337G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209007	NM_018127.7(ELAC2):c.1304+212C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281659	NM_018127.7(ELAC2):c.1304+65del	ELAC2	Deletion (intron variant)	not provided	GBenign
Select item 379969	NM_018127.7(ELAC2):c.1304+17A>T	ELAC2	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 1521748	NM_018127.7(ELAC2):c.1283G>A (p.Arg428His)	ELAC2 (R427H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 265120	NM_018127.7(ELAC2):c.1282C>T (p.Arg428Cys)	ELAC2 (R428C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 488981	NM_018127.7(ELAC2):c.1275C>A (p.Tyr425Ter)	ELAC2 (Y425* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1178421	NM_018127.7(ELAC2):c.1218+27G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 379968	NM_018127.7(ELAC2):c.1218+15C>T	ELAC2	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 2 +3 more	GBenign
Select item 541491	NM_018127.7(ELAC2):c.1186A>G (p.Ile396Val)	ELAC2 (I396V +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +2 more	GUncertain significance
Select item 382794	NM_018127.7(ELAC2):c.1161C>T (p.Thr387=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 1377743	NM_018127.7(ELAC2):c.1151A>T (p.Lys384Met)	ELAC2 (K384M +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 2079197	NM_018127.7(ELAC2):c.1137C>A (p.Asn379Lys)	ELAC2 (N379K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3368053	NM_018127.7(ELAC2):c.1112A>G (p.Asn371Ser)	ELAC2 (N331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217165	NM_018127.7(ELAC2):c.1080-177C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180055	NM_018127.7(ELAC2):c.1080-236del	ELAC2	Deletion (intron variant)	not provided	GBenign
Select item 1199611	NM_018127.7(ELAC2):c.1080-257A>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201501	NM_018127.7(ELAC2):c.1080-276G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683505	NM_018127.7(ELAC2):c.1080-326T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676454	NM_018127.7(ELAC2):c.1079+91C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675512	NM_018127.7(ELAC2):c.1079+72G>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1386350	NM_018127.7(ELAC2):c.1078A>T (p.Arg360Trp)	ELAC2 (R320W +1 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1329544	NM_018127.7(ELAC2):c.1042G>A (p.Val348Met)	ELAC2 (V308M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 676212	NM_018127.7(ELAC2):c.984-132C>T	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220308	NM_018127.7(ELAC2):c.984-192G>A	ELAC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674694	NM_018127.7(ELAC2):c.984-204C>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679046	NM_018127.7(ELAC2):c.984-237T>C	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678502	NM_018127.7(ELAC2):c.984-237T>G	ELAC2	Single nucleotide variant (intron variant)	not provided	GBenign

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