60528[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	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 2193367	NM_018127.7(ELAC2):c.2480G>A (p.Ter827=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1479896	NM_018127.7(ELAC2):c.2472_2473del (p.Arg824fs)	ELAC2 (R823fs +2 more)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2098971	NM_018127.7(ELAC2):c.2467G>A (p.Val823Ile)	ELAC2 (V783I +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1506248	NM_018127.7(ELAC2):c.2467G>T (p.Val823Phe)	ELAC2 (V823F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2133986	NM_018127.7(ELAC2):c.2465A>C (p.Lys822Thr)	ELAC2 (K782T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1386049	NM_018127.7(ELAC2):c.2459C>G (p.Ala820Gly)	ELAC2 (A780G +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1720612	NM_018127.7(ELAC2):c.2458G>A (p.Ala820Thr)	ELAC2 (A780T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1998168	NM_018127.7(ELAC2):c.2457G>C (p.Gln819His)	ELAC2 (Q779H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 415251	NM_018127.7(ELAC2):c.2457G>A (p.Gln819=)	ELAC2	Single nucleotide variant (synonymous variant)	Prostate cancer, hereditary, 2 +1 more	GLikely benign
Select item 1385240	NM_018127.7(ELAC2):c.2455C>T (p.Gln819Ter)	ELAC2 (Q818* +2 more)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2966669	NM_018127.7(ELAC2):c.2454A>G (p.Pro818=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2082342	NM_018127.7(ELAC2):c.2449G>A (p.Glu817Lys)	ELAC2 (E777K +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 656848	NM_018127.7(ELAC2):c.2445_2447del (p.Glu817del)	ELAC2 (E777del +2 more)	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1363111	NM_018127.7(ELAC2):c.2435G>A (p.Arg812Gln)	ELAC2 (R811Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
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 1447336	NM_018127.7(ELAC2):c.2426A>T (p.Gln809Leu)	ELAC2 (Q769L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1423983	NM_018127.7(ELAC2):c.2423C>T (p.Pro808Leu)	ELAC2 (P807L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2095104	NM_018127.7(ELAC2):c.2422C>T (p.Pro808Ser)	ELAC2 (P807S +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1568875	NM_018127.7(ELAC2):c.2421G>A (p.Glu807=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2524991	NM_018127.7(ELAC2):c.2419G>A (p.Glu807Lys)	ELAC2 (E767K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1616549	NM_018127.7(ELAC2):c.2418G>C (p.Gly806=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 408865	NM_018127.7(ELAC2):c.2353_2415dup (p.Arg785_Asp805dup)	ELAC2	Duplication (inframe_insertion)	Combined oxidative phosphorylation defect type 17 +2 more	GConflicting classifications of pathogenicity
Select item 241278	NM_018127.7(ELAC2):c.2415_2416insCGGGGGCTGCGGCAGGTGCGGGCGGCCCTCCTGTCCAGGGAGCTGGCAGGCGGCCTGGAGGAT (p.Asp805_Gly806insArgGlyLeuArgGlnValArgAlaAlaLeuLeuSerArgGluLeuAlaGlyGlyLeuGluAsp)	ELAC2	Insertion (inframe_insertion)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2161970	NM_018127.7(ELAC2):c.2412G>T (p.Glu804Asp)	ELAC2 (E764D +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1136925	NM_018127.7(ELAC2):c.2412G>A (p.Glu804=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1376313	NM_018127.7(ELAC2):c.2410del (p.Glu804fs)	ELAC2 (E804fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	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 241277	NM_018127.7(ELAC2):c.2404G>A (p.Gly802Ser)	ELAC2 (G802S +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
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 2002603	NM_018127.7(ELAC2):c.2402G>A (p.Gly801Asp)	ELAC2 (G800D +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2195567	NM_018127.7(ELAC2):c.2397G>A (p.Leu799=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1490052	NM_018127.7(ELAC2):c.2392_2393inv (p.Glu798Ser)	ELAC2 (E758S +2 more)	Inversion (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1374467	NM_018127.7(ELAC2):c.2392_2393delinsTT (p.Glu798Leu)	ELAC2 (E758L +2 more)	Indel (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1909921	NM_018127.7(ELAC2):c.2390G>A (p.Arg797Lys)	ELAC2 (R757K +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1419776	NM_018127.7(ELAC2):c.2384T>C (p.Leu795Pro)	ELAC2 (L755P +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1986658	NM_018127.7(ELAC2):c.2380C>T (p.Leu794Phe)	ELAC2 (L754F +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1502425	NM_018127.7(ELAC2):c.2375_2380del (p.Ala792_Leu794delinsVal)	ELAC2	Deletion (inframe_indel)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2768233	NM_018127.7(ELAC2):c.2379C>G (p.Ala793=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	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 2078356	NM_018127.7(ELAC2):c.2365_2373dup (p.Arg791_Ala792insGlnValArg)	ELAC2	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1515771	NM_018127.7(ELAC2):c.2374G>A (p.Ala792Thr)	ELAC2 (A791T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 408867	NM_018127.7(ELAC2):c.2372G>A (p.Arg791Gln)	ELAC2 (R791Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17 +1 more	GUncertain significance
Select item 1137959	NM_018127.7(ELAC2):c.2370G>A (p.Val790=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2114095	NM_018127.7(ELAC2):c.2368G>A (p.Val790Met)	ELAC2 (V790M +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1400407	NM_018127.7(ELAC2):c.2367G>T (p.Gln789His)	ELAC2 (Q789H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1434047	NM_018127.7(ELAC2):c.2363G>A (p.Arg788Gln)	ELAC2 (R788Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 408863	NM_018127.7(ELAC2):c.2353C>T (p.Arg785Trp)	ELAC2 (R785W +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	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 474566	NM_018127.7(ELAC2):c.2338_2349del (p.Glu780_Glu783del)	ELAC2	Deletion (inframe_deletion)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1346303	NM_018127.7(ELAC2):c.2342G>T (p.Arg781Leu)	ELAC2 (R780L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
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 655322	NM_018127.7(ELAC2):c.2341C>T (p.Arg781Cys)	ELAC2 (R780C +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 837141	NM_018127.7(ELAC2):c.2333T>C (p.Met778Thr)	ELAC2 (M777T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2139608	NM_018127.7(ELAC2):c.2332A>C (p.Met778Leu)	ELAC2 (M738L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2738675	NM_018127.7(ELAC2):c.2328G>A (p.Glu776=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2155244	NM_018127.7(ELAC2):c.2326G>A (p.Glu776Lys)	ELAC2 (E775K +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 474565	NM_018127.7(ELAC2):c.2325C>T (p.Ile775=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 1360775	NM_018127.7(ELAC2):c.2324T>A (p.Ile775Asn)	ELAC2 (I735N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137102	NM_018127.7(ELAC2):c.2323A>G (p.Ile775Val)	ELAC2 (I774V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2047438	NM_018127.7(ELAC2):c.2320G>A (p.Asp774Asn)	ELAC2 (D734N +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 571175	NM_018127.7(ELAC2):c.2319C>T (p.Gly773=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2824952	NM_018127.7(ELAC2):c.2312_2313del (p.Phe771fs)	ELAC2 (F731fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1391192	NM_018127.7(ELAC2):c.2308_2309del (p.Leu770fs)	ELAC2 (L769fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2001396	NM_018127.7(ELAC2):c.2278_2298dup (p.Pro766_Leu767insMetProLysLeuIleProPro)	ELAC2	Duplication (inframe_insertion)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 2827303	NM_018127.7(ELAC2):c.2297C>A (p.Pro766Gln)	ELAC2 (P726Q +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 795745	NM_018127.7(ELAC2):c.2295C>G (p.Pro765=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1436408	NM_018127.7(ELAC2):c.2291T>G (p.Ile764Ser)	ELAC2 (I724S +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1139907	NM_018127.7(ELAC2):c.2289G>C (p.Leu763=)	ELAC2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 241276	NM_018127.7(ELAC2):c.2275A>G (p.Thr759Ala)	ELAC2 (T759A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 847719	NM_018127.7(ELAC2):c.2266_2267del (p.Asp756fs)	ELAC2 (D755fs +2 more)	Microsatellite (frameshift variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 1717141	NM_018127.7(ELAC2):c.2255T>C (p.Val752Ala)	ELAC2 (V712A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
Select item 3061315	NM_018127.7(ELAC2):c.2254-2A>G	ELAC2	Single nucleotide variant (splice acceptor variant)	ELAC2-related disorder	GLikely pathogenic
Select item 1034423	NM_018127.7(ELAC2):c.2254-5T>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1101306	NM_018127.7(ELAC2):c.2254-8T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17 +1 more	GLikely benign
Select item 2080956	NM_018127.7(ELAC2):c.2254-9G>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1672324	NM_018127.7(ELAC2):c.2254-11G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2727604	NM_018127.7(ELAC2):c.2254-13T>C	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2190420	NM_018127.7(ELAC2):c.2254-14A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
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 1492198	NM_018127.7(ELAC2):c.2253+6_2253+321del	ELAC2	Deletion (intron variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance
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 2040769	NM_018127.7(ELAC2):c.2253+20A>G	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1432205	NM_018127.7(ELAC2):c.2253+16G>A	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2162429	NM_018127.7(ELAC2):c.2253+15C>T	ELAC2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 1621210	NM_018127.7(ELAC2):c.2253+14_2253+15del	ELAC2	Microsatellite (intron variant)	Combined oxidative phosphorylation defect type 17	GLikely benign
Select item 2289444	NM_018127.7(ELAC2):c.2253+1G>C	ELAC2	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2150219	NM_018127.7(ELAC2):c.2249T>C (p.Met750Thr)	ELAC2 (M750T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 17	GUncertain significance

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