C2752037[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 1163114	NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)	C3 (E1636Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 789661	NM_000064.4(C3):c.4878T>C (p.Thr1626=)	C3	Single nucleotide variant (synonymous variant)	Kidney disorder +5 more	GBenign/Likely benign
Select item 1093064	NM_000064.4(C3):c.4791G>A (p.Glu1597=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1014094	NM_000064.4(C3):c.4667A>G (p.Asn1556Ser)	C3 (N1556S)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1555471	NM_000064.4(C3):c.4665C>G (p.Ser1555=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 330277	NM_000064.4(C3):c.4645C>A (p.Leu1549Met)	C3 (L1549M)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GBenign/Likely benign
Select item 330278	NM_000064.4(C3):c.4635C>T (p.Tyr1545=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 725762	NM_000064.4(C3):c.4631-6C>T	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1633196	NM_000064.4(C3):c.4547-16C>G	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1638979	NM_000064.4(C3):c.4546+18G>A	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1349544	NM_000064.4(C3):c.4484C>T (p.Pro1495Leu)	C3 (P1495L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1645767	NM_000064.4(C3):c.4457-13C>T	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1638852	NM_000064.4(C3):c.4350+7C>A	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 988195	NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)	C3 (K1450Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1388745	NM_000064.4(C3):c.4177C>T (p.Arg1393Trp)	C3 (R1393W)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1143910	NM_000064.4(C3):c.4172+19G>A	C3	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 1593402	NM_000064.4(C3):c.4155C>T (p.Ile1385=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1007190	NM_000064.4(C3):c.4084G>A (p.Asp1362Asn)	C3 (D1362N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1002458	NM_000064.4(C3):c.4029G>A (p.Ser1343=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 724798	NM_000064.4(C3):c.3958C>A (p.Arg1320=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1455308	NM_000064.4(C3):c.3858C>T (p.Ala1286=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 750598	NM_000064.4(C3):c.3855C>T (p.Asp1285=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 1058771	NM_000064.4(C3):c.3757G>A (p.Val1253Met)	C3 (V1253M)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1050379	NM_000064.4(C3):c.3754G>A (p.Val1252Ile)	C3 (V1252I)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 741582	NM_000064.4(C3):c.3702C>T (p.Ser1234=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1348619	NM_000064.4(C3):c.3655C>T (p.Arg1219Cys)	C3 (R1219C)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1156191	NM_000064.4(C3):c.3647-13A>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 636510	NM_000064.4(C3):c.3593A>G (p.Gln1198Arg)	C3 (Q1198R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 748156	NM_000064.4(C3):c.3546C>T (p.Asn1182=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1646919	NM_000064.4(C3):c.3489+18T>C	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1411672	NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)	C3 (R1134Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1362333	NM_000064.4(C3):c.3400C>T (p.Arg1134Trp)	C3 (R1134W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1418783	NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys)	C3 (Y1081C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1678448	NM_000064.4(C3):c.3131G>A (p.Gly1044Glu)	C3 (G1044E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1163118	NM_000064.4(C3):c.3124C>T (p.Arg1042Trp)	C3 (R1042W)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1386402	NM_000064.4(C3):c.3096G>C (p.Glu1032Asp)	C3 (E1032D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 736397	NM_000064.4(C3):c.3018C>T (p.Thr1006=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1547343	NM_000064.4(C3):c.3015G>T (p.Val1005=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1655996	NM_000064.4(C3):c.2991G>A (p.Ala997=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 1166848	NM_000064.4(C3):c.2951-5T>C	C3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 330296	NM_000064.4(C3):c.2901C>T (p.Leu967=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +4 more	GBenign/Likely benign
Select item 728181	NM_000064.4(C3):c.2685C>T (p.Ser895=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1447116	NM_000064.4(C3):c.2668C>T (p.Pro890Ser)	C3 (P890S)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1661387	NM_000064.4(C3):c.2583+13G>A	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1628850	NM_000064.4(C3):c.2441-7C>T	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 330307	NM_000064.4(C3):c.2394C>T (p.Ser798=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +4 more	GBenign/Likely benign
Select item 1600601	NM_000064.4(C3):c.2354+19C>T	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GBenign/Likely benign
Select item 1380421	NM_000064.4(C3):c.2326G>C (p.Glu776Gln)	C3 (E776Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1522280	NM_000064.4(C3):c.2248A>T (p.Asn750Tyr)	C3 (N750Y)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 330309	NM_000064.4(C3):c.2245+15G>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +3 more	GBenign/Likely benign
Select item 1045785	NM_000064.4(C3):c.2204G>A (p.Arg735Gln)	C3 (R735Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 722865	NM_000064.4(C3):c.2190C>T (p.Tyr730=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1336269	NM_000064.4(C3):c.2118G>A (p.Ser706=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +4 more	GLikely benign
Select item 1568598	NM_000064.4(C3):c.2047+7G>A	C3	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 988244	NM_000064.4(C3):c.1999G>A (p.Ala667Thr)	C3 (A667T)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1165468	NM_000064.4(C3):c.1976-19C>T	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GBenign
Select item 1627203	NM_000064.4(C3):c.1923C>T (p.Asp641=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1587710	NM_000064.4(C3):c.1920C>T (p.Ser640=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1299968	NM_000064.4(C3):c.1909G>C (p.Gly637Arg)	C3 (G637R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1402622	NM_000064.4(C3):c.1887G>A (p.Pro629=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GConflicting classifications of pathogenicity
Select item 1641757	NM_000064.4(C3):c.1854C>T (p.Asp618=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 812131	NM_000064.4(C3):c.1835C>T (p.Thr612Met)	C3 (T612M)	Single nucleotide variant (missense variant)	Premature ovarian failure +4 more	GUncertain significance
Select item 17060	NM_000064.4(C3):c.1775G>A (p.Arg592Gln)	C3 (R592Q)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1147883	NM_000064.4(C3):c.1731T>C (p.Pro577=)	C3	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1376121	NM_000064.4(C3):c.1722G>A (p.Gln574=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 1601591	NM_000064.4(C3):c.1686+20G>A	C3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1430457	NM_000064.4(C3):c.1686G>A (p.Ser562=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 1612147	NM_000064.4(C3):c.1650C>T (p.Ser550=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 728028	NM_000064.4(C3):c.1491G>A (p.Lys497=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1580380	NM_000064.4(C3):c.1480-10G>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 1531386	NM_000064.4(C3):c.1479+13C>G	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 725569	NM_000064.4(C3):c.1452G>A (p.Glu484=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 756118	NM_000064.4(C3):c.1449C>T (p.His483=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 633671	NM_000064.4(C3):c.1433G>T (p.Arg478Leu)	C3 (R478L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1048763	NM_000064.4(C3):c.1402G>A (p.Gly468Arg)	C3 (G468R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 783814	NM_000064.4(C3):c.1344C>T (p.Thr448=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +4 more	GBenign/Likely benign
Select item 1406543	NM_000064.4(C3):c.1274G>T (p.Arg425Leu)	C3 (R425L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 449567	NM_000064.4(C3):c.1273C>T (p.Arg425Cys)	C3 (R425C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 330329	NM_000064.4(C3):c.1119+15G>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +3 more	GBenign
Select item 1580979	NM_000064.4(C3):c.1047G>C (p.Val349=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 1011735	NM_000064.4(C3):c.1027C>T (p.Arg343Cys)	C3 (R343C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1674240	NM_000064.4(C3):c.987C>T (p.Thr329=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1463640	NM_000064.4(C3):c.976G>A (p.Val326Met)	C3 (V326M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1643405	NM_000064.4(C3):c.975C>T (p.Tyr325=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1163119	NM_000064.4(C3):c.965A>G (p.Lys322Arg)	C3 (K322R)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1396226	NM_000064.4(C3):c.944G>A (p.Arg315Gln)	C3 (R315Q)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1433256	NM_000064.4(C3):c.899T>C (p.Val300Ala)	C3 (V300A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1299812	NM_000064.4(C3):c.876+19G>A	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 599116	NM_000064.4(C3):c.769G>A (p.Ala257Thr)	C3 (A257T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1630092	NM_000064.4(C3):c.683-4C>G	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome +4 more	GConflicting classifications of pathogenicity
Select item 92162	NM_000064.4(C3):c.463A>C (p.Lys155Gln)	C3 (K155Q)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 892976	NM_000064.4(C3):c.453C>T (p.Thr151=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +2 more	GUncertain significance
Select item 1357702	NM_000064.4(C3):c.452C>G (p.Thr151Ser)	C3 (T151S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1595069	NM_000064.4(C3):c.420C>A (p.Thr140=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1455261	NM_000064.4(C3):c.373dup (p.Leu125fs)	C3 (L125fs)	Duplication (frameshift variant)	Age related macular degeneration 9 +3 more	GPathogenic/Likely pathogenic
Select item 1047027	NM_000064.4(C3):c.305G>A (p.Arg102His)	C3 (R102H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1485719	NM_000064.4(C3):c.283G>A (p.Glu95Lys)	C3 (E95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1547733	NM_000064.4(C3):c.216G>A (p.Glu72=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GLikely benign

ClinVar

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Items: 98