ClinVar for MedGen (Select 442875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627483	NM_000064.4(C3):c.145G>T (p.Ala49Ser)	C3 (A49S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GUncertain significance
Select item 2575231	NM_000064.4(C3):c.75-1G>A	C3	Single nucleotide variant (splice acceptor variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GLikely pathogenic
Select item 2574569	NM_000064.4(C3):c.1125C>A (p.Phe375Leu)	C3 (F375L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GUncertain significance
Select item 2503451	NM_000064.4(C3):c.3326T>G (p.Leu1109Arg)	C3 (L1109R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GUncertain significance
Select item 2069494	NM_000064.4(C3):c.4947C>T (p.Leu1649=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1947324	NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)	C3 (G1623W)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1678448	NM_000064.4(C3):c.3131G>A (p.Gly1044Glu)	C3 (G1044E)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1674240	NM_000064.4(C3):c.987C>T (p.Thr329=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1655996	NM_000064.4(C3):c.2991G>A (p.Ala997=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GLikely benign
Select item 1646919	NM_000064.4(C3):c.3489+18T>C	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
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 1643405	NM_000064.4(C3):c.975C>T (p.Tyr325=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
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 1638979	NM_000064.4(C3):c.4546+18G>A	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 1638852	NM_000064.4(C3):c.4350+7C>A	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 1633196	NM_000064.4(C3):c.4547-16C>G	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1630092	NM_000064.4(C3):c.683-4C>G	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1628850	NM_000064.4(C3):c.2441-7C>T	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +3 more	GLikely benign
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 1612147	NM_000064.4(C3):c.1650C>T (p.Ser550=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 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 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 1595069	NM_000064.4(C3):c.420C>A (p.Thr140=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1593402	NM_000064.4(C3):c.4155C>T (p.Ile1385=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +3 more	GBenign/Likely benign
Select item 1587710	NM_000064.4(C3):c.1920C>T (p.Ser640=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GLikely benign
Select item 1580979	NM_000064.4(C3):c.1047G>C (p.Val349=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1580380	NM_000064.4(C3):c.1480-10G>A	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1568598	NM_000064.4(C3):c.2047+7G>A	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1555471	NM_000064.4(C3):c.4665C>G (p.Ser1555=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GLikely benign
Select item 1547733	NM_000064.4(C3):c.216G>A (p.Glu72=)	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 1531386	NM_000064.4(C3):c.1479+13C>G	C3	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1522280	NM_000064.4(C3):c.2248A>T (p.Asn750Tyr)	C3 (N750Y)	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)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1463640	NM_000064.4(C3):c.976G>A (p.Val326Met)	C3 (V326M)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
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 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 1447116	NM_000064.4(C3):c.2668C>T (p.Pro890Ser)	C3 (P890S)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1433256	NM_000064.4(C3):c.899T>C (p.Val300Ala)	C3 (V300A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance
Select item 1430457	NM_000064.4(C3):c.1686G>A (p.Ser562=)	C3	Single nucleotide variant (synonymous variant)	Age related macular degeneration 9 +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 1411672	NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)	C3 (R1134Q)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +4 more	GUncertain significance
Select item 1406543	NM_000064.4(C3):c.1274G>T (p.Arg425Leu)	C3 (R425L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1402622	NM_000064.4(C3):c.1887G>A (p.Pro629=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 1396226	NM_000064.4(C3):c.944G>A (p.Arg315Gln)	C3 (R315Q)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1388745	NM_000064.4(C3):c.4177C>T (p.Arg1393Trp)	C3 (R1393W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1386402	NM_000064.4(C3):c.3096G>C (p.Glu1032Asp)	C3 (E1032D)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1380421	NM_000064.4(C3):c.2326G>C (p.Glu776Gln)	C3 (E776Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
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 1372748	NM_000064.4(C3):c.3023C>T (p.Ser1008Leu)	C3 (S1008L)	Single nucleotide variant (missense variant)	C3-related condition +2 more	GUncertain significance
Select item 1362333	NM_000064.4(C3):c.3400C>T (p.Arg1134Trp)	C3 (R1134W)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 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 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 1348619	NM_000064.4(C3):c.3655C>T (p.Arg1219Cys)	C3 (R1219C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1344660	NM_000064.4(C3):c.4534C>T (p.Arg1512Cys)	C3 (R1512C)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GLikely pathogenic
Select item 1336269	NM_000064.4(C3):c.2118G>A (p.Ser706=)	C3	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1299968	NM_000064.4(C3):c.1909G>C (p.Gly637Arg)	C3 (G637R)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +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 1166848	NM_000064.4(C3):c.2951-5T>C	C3	Single nucleotide variant (intron variant)	Complement component 3 deficiency +4 more	GBenign/Likely benign
Select item 1165468	NM_000064.4(C3):c.1976-19C>T	C3	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1163121	NM_000064.4(C3):c.481C>T (p.Arg161Trp)	C3 (R161W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 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 1163114	NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)	C3 (E1636Q)	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)	not provided +3 more	GLikely benign
Select item 1147883	NM_000064.4(C3):c.1731T>C (p.Pro577=)	C3	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 1143910	NM_000064.4(C3):c.4172+19G>A	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +4 more	GLikely benign
Select item 1093064	NM_000064.4(C3):c.4791G>A (p.Glu1597=)	C3	Single nucleotide variant (synonymous variant)	C3-related condition +4 more	GLikely benign
Select item 1058771	NM_000064.4(C3):c.3757G>A (p.Val1253Met)	C3 (V1253M)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1050379	NM_000064.4(C3):c.3754G>A (p.Val1252Ile)	C3 (V1252I)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1048763	NM_000064.4(C3):c.1402G>A (p.Gly468Arg)	C3 (G468R)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 1047027	NM_000064.4(C3):c.305G>A (p.Arg102His)	C3 (R102H)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1045785	NM_000064.4(C3):c.2204G>A (p.Arg735Gln)	C3 (R735Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1014094	NM_000064.4(C3):c.4667A>G (p.Asn1556Ser)	C3 (N1556S)	Single nucleotide variant (missense variant)	C3-related condition +4 more	GUncertain significance
Select item 1012180	NM_000064.4(C3):c.3537C>A (p.Asn1179Lys)	C3 (N1179K)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly	GUncertain significance
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 1007190	NM_000064.4(C3):c.4084G>A (p.Asp1362Asn)	C3 (D1362N)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GUncertain significance
Select item 1002458	NM_000064.4(C3):c.4029G>A (p.Ser1343=)	C3	Single nucleotide variant (synonymous variant)	not provided +3 more	GUncertain significance
Select item 992385	NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)	C3	Deletion (nonsense)	not provided	GPathogenic
Select item 988244	NM_000064.4(C3):c.1999G>A (p.Ala667Thr)	C3 (A667T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 988195	NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)	C3 (K1450Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 9 +3 more	GUncertain significance
Select item 894779	NM_000064.4(C3):c.2584G>T (p.Val862Leu)	C3 (V862L)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +2 more	GUncertain significance
Select item 894778	NM_000064.4(C3):c.2617T>C (p.Cys873Arg)	C3 (C873R)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +2 more	GUncertain significance
Select item 894715	NM_000064.4(C3):c.3391-6T>C	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GBenign
Select item 894714	NM_000064.4(C3):c.3391-4T>C	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GBenign
Select item 894696	NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)	C3 (L1318R)	Single nucleotide variant (missense variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 894695	NM_000064.4(C3):c.3970-15C>G	C3	Single nucleotide variant (intron variant)	Age related macular degeneration 9 +2 more	GUncertain significance
Select item 894452	NM_000064.3(C3):c.-75A>C	C3	Single nucleotide variant	Age related macular degeneration 9 +2 more	GUncertain significance
Select item 894380	NM_000064.4(C3):c.1098A>G (p.Pro366=)	C3	Single nucleotide variant (synonymous variant)	Complement component 3 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 894350	NM_000064.4(C3):c.1470C>T (p.Tyr490=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GConflicting classifications of pathogenicity
Select item 894349	NM_000064.4(C3):c.1480-4C>A	C3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 894053	NM_000064.4(C3):c.-44C>T	C3	Single nucleotide variant (5 prime UTR variant)	Complement component 3 deficiency +2 more	GUncertain significance
Select item 894016	NM_000064.4(C3):c.763A>G (p.Ile255Val)	C3 (I255V)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GConflicting classifications of pathogenicity
Select item 893948	NM_000064.4(C3):c.1508C>T (p.Ala503Val)	C3 (A503V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 893893	NM_000064.4(C3):c.2390A>C (p.Asp797Ala)	C3 (D797A)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +2 more	GUncertain significance
Select item 893863	NM_000064.4(C3):c.2646C>T (p.His882=)	C3	Single nucleotide variant (synonymous variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +2 more	GUncertain significance
Select item 893862	NM_000064.4(C3):c.2670C>G (p.Pro890=)	C3	Single nucleotide variant (synonymous variant)	C3-related condition +4 more	GConflicting classifications of pathogenicity
Select item 893831	NM_000064.4(C3):c.2863+15G>T	C3	Single nucleotide variant (intron variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GConflicting classifications of pathogenicity
Select item 893807	NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)	C3 (N1136S)	Single nucleotide variant (missense variant)	Atypical hemolytic-uremic syndrome with C3 anomaly +3 more	GUncertain significance

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