C3810402[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1565464	NM_001735.3(C5):c.5031A>G (p.Ter1677=)	C5, C5-OT1	Single nucleotide variant (synonymous variant +1 more)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1444040	NM_001735.3(C5):c.5011A>G (p.Ile1671Val)	C5, C5-OT1 (I1677V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Complement component 5 deficiency +3 more	GUncertain significance
Select item 1421436	NM_001735.3(C5):c.5005G>A (p.Glu1669Lys)	C5, C5-OT1 (E1675K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 1364468	NM_001735.3(C5):c.4932G>C (p.Trp1644Cys)	C5 (W1650C +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1376513	NM_001735.3(C5):c.4924T>G (p.Leu1642Val)	C5 (L1642V +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1588652	NM_001735.3(C5):c.4899C>T (p.Phe1633=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 722488	NM_001735.3(C5):c.4785C>T (p.Asp1595=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1170723	NM_001735.3(C5):c.4762+14C>T	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GBenign/Likely benign
Select item 1363788	NM_001735.3(C5):c.4713A>G (p.Glu1571=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1358924	NM_001735.3(C5):c.4693A>G (p.Ile1565Val)	C5 (I1571V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1500220	NM_001735.3(C5):c.4679-2A>G	C5	Single nucleotide variant (splice acceptor variant)	Complement component 5 deficiency +2 more	GLikely pathogenic
Select item 1342383	NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)	C5 (A1552T +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +1 more	GUncertain significance
Select item 1491296	NM_001735.3(C5):c.4652C>T (p.Thr1551Ile)	C5 (T1557I +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1435849	NM_001735.3(C5):c.4504+4A>G	C5	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1525014	NM_001735.3(C5):c.4489G>A (p.Glu1497Lys)	C5 (E1503K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 17051	NM_001735.3(C5):c.4426C>T (p.Arg1476Ter)	C5 (R1476* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1391043	NM_001735.3(C5):c.4321G>T (p.Ala1441Ser)	C5 (A1441S +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1347971	NM_001735.3(C5):c.4247C>T (p.Ser1416Leu)	C5 (S1416L +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1446812	NM_001735.3(C5):c.4205T>C (p.Ile1402Thr)	C5 (I1408T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1149679	NM_001735.3(C5):c.4162+20C>T	C5	Single nucleotide variant (intron variant)	Eculizumab, poor response to +2 more	GLikely benign
Select item 1049928	NM_001735.3(C5):c.4143C>A (p.Ile1381=)	C5	Single nucleotide variant (synonymous variant)	Eculizumab, poor response to +1 more	GUncertain significance
Select item 1484866	NM_001735.3(C5):c.4127G>A (p.Ser1376Asn)	C5 (S1376N +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1411070	NM_001735.3(C5):c.4081-6A>G	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1632142	NM_001735.3(C5):c.4018-18T>A	C5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1398000	NM_001735.3(C5):c.4016A>G (p.Glu1339Gly)	C5 (E1345G +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1385681	NM_001735.3(C5):c.3732G>A (p.Thr1244=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1380971	NM_001735.3(C5):c.3731C>T (p.Thr1244Met)	C5 (T1244M +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1432995	NM_001735.3(C5):c.3676C>T (p.Arg1226Cys)	C5 (R1226C +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +3 more	GUncertain significance
Select item 1616543	NM_001735.3(C5):c.3659-6G>A	C5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 625902	NM_001735.3(C5):c.3413G>A (p.Arg1138Gln)	C5 (R1138Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 709557	NM_001735.3(C5):c.3303T>C (p.Cys1101=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +3 more	GBenign/Likely benign
Select item 1443344	NM_001735.3(C5):c.3277G>A (p.Val1093Ile)	C5 (V1093I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1555783	NM_001735.3(C5):c.3231-4A>C	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1631682	NM_001735.3(C5):c.3230+17G>C	C5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1420926	NM_001735.3(C5):c.3199A>C (p.Ser1067Arg)	C5 (S1073R +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 718720	NM_001735.3(C5):c.3098T>C (p.Ile1033Thr)	C5 (I1039T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1059514	NM_001735.3(C5):c.3068A>G (p.His1023Arg)	C5 (H1023R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1383276	NM_001735.3(C5):c.3059A>G (p.Tyr1020Cys)	C5 (Y1020C +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 717915	NM_001735.3(C5):c.3033G>C (p.Glu1011Asp)	C5 (E1011D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1648361	NM_001735.3(C5):c.2942-16A>T	C5	Single nucleotide variant (intron variant)	Eculizumab, poor response to +2 more	GLikely benign
Select item 1408737	NM_001735.3(C5):c.2827A>G (p.Thr943Ala)	C5 (T943A +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1644840	NM_001735.3(C5):c.2715T>C (p.Ile905=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1443422	NM_001735.3(C5):c.2686G>T (p.Val896Leu)	C5 (V896L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 127072	NM_001735.3(C5):c.2653C>T (p.Arg885Cys)	C5 (R885C +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1466458	NM_001735.3(C5):c.2627A>G (p.Gln876Arg)	C5 (Q876R +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1085354	NM_001735.3(C5):c.2563-15_2563-14delinsAT	C5	Indel (intron variant)	not provided +2 more	GLikely benign
Select item 1348579	NM_001735.3(C5):c.2543A>G (p.Tyr848Cys)	C5 (Y848C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1439625	NM_001735.3(C5):c.2491T>C (p.Tyr831His)	C5 (Y831H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1284901	NM_001735.3(C5):c.2420C>T (p.Thr807Ile)	C5 (T807I +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 721799	NM_001735.3(C5):c.2272T>C (p.Leu758=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1488270	NM_001735.3(C5):c.2257+1G>A	C5	Single nucleotide variant (splice donor variant)	Eculizumab, poor response to +2 more	GLikely pathogenic
Select item 1416069	NM_001735.3(C5):c.2206A>G (p.Ser736Gly)	C5 (S736G +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1423870	NM_001735.3(C5):c.2177A>G (p.Lys726Arg)	C5 (K726R +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +3 more	GUncertain significance
Select item 1652212	NM_001735.3(C5):c.2059+16T>A	C5	Single nucleotide variant (intron variant)	Eculizumab, poor response to +2 more	GBenign/Likely benign
Select item 1641584	NM_001735.3(C5):c.2059+10G>A	C5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1345729	NM_001735.3(C5):c.2059+3A>G	C5	Single nucleotide variant (intron variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1532964	NM_001735.3(C5):c.2037G>A (p.Leu679=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1000584	NM_001735.3(C5):c.2033C>T (p.Thr678Met)	C5 (T678M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1643655	NM_001735.3(C5):c.1947T>C (p.Ala649=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1626523	NM_001735.3(C5):c.1929C>G (p.Ala643=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1613880	NM_001735.3(C5):c.1866+12C>A	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1346229	NM_001735.3(C5):c.1816G>A (p.Asp606Asn)	C5 (D612N +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1401000	NM_001735.3(C5):c.1759A>T (p.Thr587Ser)	C5 (T593S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1407585	NM_001735.3(C5):c.1717-5T>C	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1654903	NM_001735.3(C5):c.1716+7C>G	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1402097	NM_001735.3(C5):c.1704C>T (p.Gly568=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 1439978	NM_001735.3(C5):c.1541C>T (p.Thr514Met)	C5 (T514M +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1169141	NM_001735.3(C5):c.1506+17G>T	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GBenign/Likely benign
Select item 1438324	NM_001735.3(C5):c.1481A>G (p.Asp494Gly)	C5 (D494G +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +3 more	GUncertain significance
Select item 1416099	NM_001735.3(C5):c.1424C>T (p.Ala475Val)	C5 (A475V +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1135683	NM_001735.3(C5):c.1418A>G (p.His473Arg)	C5 (H473R +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1451489	NM_001735.3(C5):c.1407G>A (p.Trp469Ter)	C5 (W475* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1524899	NM_001735.3(C5):c.1358G>A (p.Arg453Gln)	C5 (R453Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1170893	NM_001735.3(C5):c.1287G>A (p.Thr429=)	C5	Single nucleotide variant (synonymous variant)	Eculizumab, poor response to +2 more	GBenign/Likely benign
Select item 1610830	NM_001735.3(C5):c.1125T>G (p.Val375=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1167902	NM_001735.3(C5):c.1001-6C>T	C5	Single nucleotide variant (intron variant)	Complement component 5 deficiency +2 more	GBenign/Likely benign
Select item 1482689	NM_001735.3(C5):c.975T>A (p.Ile325=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1575544	NM_001735.3(C5):c.928C>T (p.Leu310=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1638505	NM_001735.3(C5):c.921C>G (p.Val307=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GBenign/Likely benign
Select item 1521854	NM_001735.3(C5):c.892C>G (p.Gln298Glu)	C5 (Q304E +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 1366548	NM_001735.3(C5):c.813A>G (p.Ile271Met)	C5 (I271M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1539157	NM_001735.3(C5):c.792C>T (p.Asp264=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1437351	NM_001735.3(C5):c.698C>T (p.Pro233Leu)	C5 (P239L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1018051	NM_001735.3(C5):c.691A>G (p.Ile231Val)	C5 (I231V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1658524	NM_001735.3(C5):c.667+8C>G	C5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1535698	NM_001735.3(C5):c.600G>A (p.Thr200=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1592476	NM_001735.3(C5):c.584+18T>C	C5	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1408015	NM_001735.3(C5):c.572C>T (p.Pro191Leu)	C5 (P197L +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1542244	NM_001735.3(C5):c.450C>T (p.Asp150=)	C5	Single nucleotide variant (synonymous variant)	Eculizumab, poor response to +2 more	GBenign/Likely benign
Select item 1605873	NM_001735.3(C5):c.441G>A (p.Ser147=)	C5	Single nucleotide variant (synonymous variant)	Eculizumab, poor response to +2 more	GLikely benign
Select item 1610831	NM_001735.3(C5):c.435T>A (p.Val145=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1548218	NM_001735.3(C5):c.423A>G (p.Val141=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1390430	NM_001735.3(C5):c.407C>A (p.Thr136Asn)	C5 (T142N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1467723	NM_001735.3(C5):c.314A>C (p.Glu105Ala)	C5 (E105A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1536669	NM_001735.3(C5):c.306G>A (p.Val102=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1122922	NM_001735.3(C5):c.267A>C (p.Pro89=)	C5	Single nucleotide variant (synonymous variant)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1404131	NM_001735.3(C5):c.116T>C (p.Ile39Thr)	C5 (I45T +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +2 more	GUncertain significance
Select item 17050	NM_001735.3(C5):c.55C>T (p.Gln19Ter)	C5 (Q19*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic

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Items: 98