A total 135 pathogenic variants reported in gene complement C3 (C3)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000064.4(C3):c.2354+1G>A SNV
Germline
Chr19:6702470 Pathogenic C3 deficiency No Assertion Criteria Provided
CA304789042 rs_112996548

1 SubmittersRCV000018587

NM_000064.4(C3):c.1775G>A (p.Arg592Gln) SNV
Germline
Chr19:6709754 Pathogenic/Likely pathogenic Condition: not provided
C3-related disorder
Familial Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Multiple Submitters
No Conflicts
CA257691 rs_121909583

7 SubmittersRCV001507917RCV004751217RCV001844014RCV000018589RCV002496404

NM_000064.4(C3):c.4631-2A>G SNV
Germline
Chr19:6678457 Pathogenic C3 deficiency No Assertion Criteria Provided
CA403611881 rs_111595742

1 SubmittersRCV000018593

NM_000064.4(C3):c.463A>C (p.Lys155Gln) SNV
Germline
Chr19:6718135 Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
not specified
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Complement component 3 deficiency
Age related macular degeneration 9
Retinal dystrophy
C3-related disorder
Criteria Provided
Conflicting Classifications
CA213419 rs_147859257

8 SubmittersRCV000077796RCV000202831RCV000765476RCV001130001RCV000963525RCV001130000RCV001130002RCV004814999RCV003915045

NM_000064.4(C3):c.4941G>A (p.Gln1647=) SNV
Germline
Chr19:6677933 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128196 rs_780251209

2 SubmittersRCV000287361RCV000326976RCV000381549RCV002521254

NM_000064.4(C3):c.4767G>A (p.Lys1589=) SNV
Germline
Chr19:6678235 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9128262 rs_144589541

4 SubmittersRCV000266935RCV000322076RCV000361583RCV000907622RCV003987510

NM_000064.4(C3):c.4535G>A (p.Arg1512His) SNV
Germline
Chr19:6679418 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Condition: not provided
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9128367 rs_142868256

5 SubmittersRCV000264234RCV000300709RCV000355975RCV002523076RCV005018686

NM_000064.4(C3):c.4030-4C>T SNV
Germline
Chr19:6684654 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9128539 rs_372612816

4 SubmittersRCV000275490RCV000315441RCV000367747RCV002057534RCV005407063

NM_000064.4(C3):c.2799G>A (p.Pro933=) SNV
Germline
Chr19:6696657 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128960 rs_149209011

2 SubmittersRCV000290612RCV000347863RCV000387056RCV001519032

NM_000064.4(C3):c.1758G>A (p.Glu586=) SNV
Germline
Chr19:6709771 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129341 rs_764201055

3 SubmittersRCV000288369RCV000347980RCV000395644RCV002057540RCV002057539

NM_000064.4(C3):c.1119+14C>T SNV
Germline
Chr19:6712494 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129557 rs_374368486

2 SubmittersRCV000269291RCV000313893RCV000363891RCV002057541

NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) SNV
Germline
Chr19:6678019 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
not specified
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9128209 rs_2230210

11 SubmittersRCV000279318RCV000337839RCV000395497RCV000948468RCV001820990RCV001281035RCV004751474

NM_000064.4(C3):c.4827C>T (p.Ser1609=) SNV
Germline
Chr19:6678175 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9128245 rs_150537373

4 SubmittersRCV000310546RCV000350353RCV000402383RCV002057532RCV004751475

NM_000064.4(C3):c.4803C>T (p.His1601=) SNV
Germline
Chr19:6678199 Conflicting classifications of pathogenicity Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128252 rs_762332809

3 SubmittersRCV000270705RCV000307062RCV000365261RCV001820991RCV002521255

NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) SNV
Germline
Chr19:6681972 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128437 rs_147116781

3 SubmittersRCV000291733RCV000346899RCV000382806RCV001507912

NM_000064.4(C3):c.2907C>T (p.Asp969=) SNV
Germline
Chr19:6696422 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128916 rs_144672500

2 SubmittersRCV000270342RCV000323045RCV000362131RCV001442188

NM_000064.4(C3):c.1855G>A (p.Val619Met) SNV
Germline
Chr19:6707920 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Kidney disorder
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129286 rs_146613648

5 SubmittersRCV000267223RCV000324678RCV000364011RCV002294282RCV001859956RCV005018689

NM_000064.4(C3):c.1164C>T (p.Pro388=) SNV
Germline
Chr19:6712362 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129537 rs_769368306

1 SubmittersRCV000298553RCV000334622RCV000400576

NM_000064.4(C3):c.1042A>G (p.Ile348Val) SNV
Germline
Chr19:6712585 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129574 rs_141737564

3 SubmittersRCV000266004RCV000329218RCV000383819RCV001507918

NM_000064.4(C3):c.3687C>T (p.Asn1229=) SNV
Germline
Chr19:6686247 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9128660 rs_201108539

3 SubmittersRCV000281154RCV000320851RCV000377842RCV001475689RCV003950132

NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) SNV
Germline
Chr19:6686263 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
not specified
Condition: not provided
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9128662 rs_11569534

8 SubmittersRCV000279638RCV000338521RCV000396966RCV001727686RCV000788906RCV003910272

NM_000064.4(C3):c.1873A>T (p.Ile625Phe) SNV
Germline
Chr19:6707902 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129285 rs_144432231

4 SubmittersRCV000365239RCV000398343RCV001029978RCV001820995RCV002057538

NM_000064.4(C3):c.774-4G>A SNV
Germline
Chr19:6713513 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129668 rs_368095422

3 SubmittersRCV000273085RCV000309466RCV000363187RCV002294286RCV002057542

NM_000064.4(C3):c.681C>T (p.Tyr227=) SNV
Germline
Chr19:6714167 Conflicting classifications of pathogenicity Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129737 rs_756694755

2 SubmittersRCV000260974RCV000316235RCV000360459RCV001319506

NM_000064.4(C3):c.4850+12C>A SNV
Germline
Chr19:6678140 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128240 rs_748416799

2 SubmittersRCV000314182RCV000334388RCV000399667RCV005055894

NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) SNV
Germline
Chr19:6678243 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128264 rs_746985605

2 SubmittersRCV000261966RCV000317155RCV000376726RCV002523075

NM_000064.4(C3):c.4095C>G (p.Val1365=) SNV
Germline
Chr19:6684585 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9128529 rs_527830114

3 SubmittersRCV000298012RCV000352926RCV000393921RCV002057533RCV005018687

NM_000064.4(C3):c.3993A>G (p.Thr1331=) SNV
Germline
Chr19:6684811 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128556 rs_202210310

2 SubmittersRCV000269438RCV000328138RCV000366481RCV002057535

NM_000064.4(C3):c.2203C>T (p.Arg735Trp) SNV
Germline
Chr19:6707118 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
not specified
Atypical hemolytic-uremic syndrome
Criteria Provided
Conflicting Classifications
CA9129171 rs_117793540

7 SubmittersRCV000269843RCV000328876RCV000381202RCV002057536RCV001820994RCV002294280

NM_000064.4(C3):c.2067G>A (p.Glu689=) SNV
Germline
Chr19:6707254 Conflicting classifications of pathogenicity Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Condition: not provided
Atypical hemolytic-uremic syndrome
Criteria Provided
Conflicting Classifications
CA9129195 rs_147477257

6 SubmittersRCV000281882RCV000321888RCV000374090RCV000958441RCV002294281

NM_000064.4(C3):c.1898A>G (p.Lys633Arg) SNV
Germline
Chr19:6707877 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129280 rs_140655115

5 SubmittersRCV000312677RCV000352497RCV000402109RCV000788141RCV005018688

NM_000064.4(C3):c.1767C>T (p.His589=) SNV
Germline
Chr19:6709762 Conflicting classifications of pathogenicity Macular degeneration
C3 deficiency
Atypical hemolytic-uremic syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129339 rs_775843240

2 SubmittersRCV000296792RCV000351605RCV000386416RCV000928120

NM_000064.4(C3):c.2861G>A (p.Arg954His) SNV
Germline
Chr19:6696595 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
C3-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA9128952 rs_139864704

6 SubmittersRCV000442662RCV001136341RCV001136338RCV001136339RCV003418134RCV005239008

NM_000064.4(C3):c.193A>C (p.Lys65Gln) SNV
Germline
Chr19:6719285 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome
not specified
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Conflicting Classifications
CA9129883 rs_539992721

8 SubmittersRCV000427027RCV001328274RCV003320186RCV003147456RCV003147457RCV003138002RCV005018727

NM_000064.4(C3):c.3908G>A (p.Arg1303His) SNV
Germline
Chr19:6685049 Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly No Assertion Criteria Provided
CA9128600 rs_775015499

1 SubmittersRCV000625544

NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) SNV
Germline
Chr19:6684412 Conflicting classifications of pathogenicity Condition: not provided
Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9128504 rs_139100972

4 SubmittersRCV000782234RCV001131706RCV001131707RCV001131705RCV005021172

NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) SNV
Germline
Chr19:6684580 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9128528 rs_11569541

5 SubmittersRCV000788905RCV001816838

NM_000064.4(C3):c.2583+9C>T SNV
Germline
Chr19:6697643 Conflicting classifications of pathogenicity Condition: not provided
Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Conflicting Classifications
CA9129033 rs_372400121

2 SubmittersRCV000892309RCV001129456RCV001129458RCV001129457

NM_000064.4(C3):c.4645C>T (p.Leu1549=) SNV
Germline
Chr19:6678441 Conflicting classifications of pathogenicity Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9128307 rs_149202905

2 SubmittersRCV000907738RCV001128907RCV001128908RCV001128909

NM_000064.4(C3):c.2157G>A (p.Ala719=) SNV
Germline
Chr19:6707164 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
not specified
Criteria Provided
Conflicting Classifications
CA9129180 rs_143671993

3 SubmittersRCV000896462RCV001132291RCV001132292RCV001132293RCV004702509

NM_000064.4(C3):c.4369G>C (p.Asp1457His) SNV
Germline
Chr19:6680245 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9128406 rs_113742728

3 SubmittersRCV000913108RCV003489966

NM_000064.4(C3):c.4824C>T (p.Ser1608=) SNV
Germline
Chr19:6678178 Conflicting classifications of pathogenicity Age related macular degeneration 9
Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
not specified
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9128246 rs_139457470

5 SubmittersRCV001134438RCV000935897RCV001134437RCV001134439RCV004689934RCV004751827

NM_000064.4(C3):c.1119+10G>A SNV
Germline
Chr19:6712498 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129560 rs_752328639

2 SubmittersRCV000930261RCV001133417RCV001133419RCV001133418

NM_000064.4(C3):c.2354+9G>A SNV
Germline
Chr19:6702462 Conflicting classifications of pathogenicity Condition: not provided
Kidney disorder
Criteria Provided
Conflicting Classifications
CA9129121 rs_184430616

2 SubmittersRCV000957851RCV002294423

NM_000064.4(C3):c.3085G>A (p.Asp1029Asn) SNV
Unknown
Chr19:6694500 Likely pathogenic Mesangiocapillary glomerulonephritis No Assertion Criteria Provided
CA403628678 rs_1599507415

1 SubmittersRCV001003785

NM_000064.4(C3):c.2531A>G (p.Gln844Arg) SNV
Germline
Chr19:6697704 Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly No Assertion Criteria Provided
CA403633927 rs_1599510478

1 SubmittersRCV001029995

NM_000064.4(C3):c.26T>C (p.Leu9Pro) SNV
Germline
Chr19:6720564 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129927 rs_138214338

6 SubmittersRCV001092937RCV001133672RCV001133673RCV001133674RCV002294438RCV005021439

NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) SNV
Germline
Chr19:6679482 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128377 rs_140928439

2 SubmittersRCV001132614RCV001132612RCV001132613RCV001856710

NM_000064.4(C3):c.4353C>G (p.Val1451=) SNV
Germline
Chr19:6680261 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA304772186 rs_750821412

2 SubmittersRCV001129024RCV001129025RCV001135995RCV002070503

NM_000064.4(C3):c.4257G>A (p.Lys1419=) SNV
Germline
Chr19:6682145 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128471 rs_768065757

2 SubmittersRCV001131703RCV001131704RCV001131702RCV002070540

NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) SNV
Germline
Chr19:6685004 Conflicting classifications of pathogenicity Complement component 3 deficiency
Condition: not provided
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Conflicting Classifications
CA9128591 rs_769873702

2 SubmittersRCV001136124RCV001873534RCV001136123RCV001136125

NM_000064.4(C3):c.3411C>T (p.Asn1137=) SNV
Germline
Chr19:6690707 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128739 rs_753019751

2 SubmittersRCV001132816RCV001132815RCV001132817RCV002556850

NM_000064.4(C3):c.3024G>A (p.Ser1008=) SNV
Germline
Chr19:6694561 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9128868 rs_779366181

3 SubmittersRCV001129252RCV001131950RCV001131951RCV003660853RCV005021473

NM_000064.4(C3):c.2670C>G (p.Pro890=) SNV
Germline
Chr19:6697470 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
C3-related disorder
Criteria Provided
Conflicting Classifications
CA9129002 rs_137956083

3 SubmittersRCV001133004RCV001133005RCV001133006RCV002070553RCV003945849

NM_000064.4(C3):c.2207G>A (p.Arg736Gln) SNV
Germline
Chr19:6707114 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129168 rs_578116271

2 SubmittersRCV001129558RCV001129557RCV001129559RCV002556822

NM_000064.4(C3):c.1685C>T (p.Ser562Leu) SNV
Germline
Chr19:6710640 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Inborn genetic diseases
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129383 rs_200541526

4 SubmittersRCV001132392RCV001132393RCV001132394RCV001856709RCV004963139RCV005029703

NM_000064.4(C3):c.1508C>T (p.Ala503Val) SNV
Germline
Chr19:6710817 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9129417 rs_781417846

3 SubmittersRCV001133315RCV001134783RCV001134784RCV003117778RCV005021474

NM_000064.4(C3):c.1470C>T (p.Tyr490=) SNV
Germline
Chr19:6710996 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129445 rs_762635358

2 SubmittersRCV001134788RCV001134790RCV001134789RCV002070574

NM_000064.4(C3):c.1296G>A (p.Ser432=) SNV
Germline
Chr19:6711170 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129488 rs_760150621

2 SubmittersRCV001129801RCV001129800RCV001132498RCV001455856

NM_000064.4(C3):c.1098A>G (p.Pro366=) SNV
Germline
Chr19:6712529 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129564 rs_757883156

2 SubmittersRCV001134904RCV001134903RCV001134905RCV002070575

NM_000064.4(C3):c.928G>A (p.Gly310Arg) SNV
Germline
Chr19:6713264 Conflicting classifications of pathogenicity Age related macular degeneration 9
Condition: not provided
not specified
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129617 rs_139527231

3 SubmittersRCV001129880RCV001873520RCV005432587RCV001129349RCV001129881

NM_000064.4(C3):c.835G>A (p.Glu279Lys) SNV
Germline
Chr19:6713448 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129654 rs_146167974

2 SubmittersRCV001129883RCV001129882RCV001130593RCV001856689

NM_000064.4(C3):c.763A>G (p.Ile255Val) SNV
Germline
Chr19:6714002 Conflicting classifications of pathogenicity Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129696 rs_746486431

2 SubmittersRCV001133541RCV001133543RCV001133542RCV001856720

NM_000064.4(C3):c.48C>A (p.His16Gln) SNV
Germline
Chr19:6720542 Conflicting classifications of pathogenicity Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129922 rs_184455094

2 SubmittersRCV001130719RCV001130718RCV001133671RCV003727888

NM_000064.4(C3):c.3970-15C>G SNV
Germline
Chr19:6684849 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Condition: not provided
Criteria Provided
Conflicting Classifications
CA631722263 rs_1233140401

2 SubmittersRCV001136120RCV001136121RCV001136122RCV005056923

NM_000064.4(C3):c.2863+15G>T SNV
Germline
Chr19:6696578 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1139666195 rs_759976981

2 SubmittersRCV001132907RCV001132906RCV001132905RCV002070551

NM_000064.4(C3):c.2797-5C>T SNV
Germline
Chr19:6696664 Conflicting classifications of pathogenicity Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9128963 rs_369673832

2 SubmittersRCV001129347RCV001129348RCV001129346RCV002070507

NM_000064.4(C3):c.2441-6G>A SNV
Germline
Chr19:6697800 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Age related macular degeneration 9
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129060 rs_752216964

2 SubmittersRCV001129459RCV001129460RCV001129461RCV002558267

NM_000064.4(C3):c.1480-4C>A SNV
Germline
Chr19:6710849 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129425 rs_200965763

2 SubmittersRCV001134786RCV001134785RCV001134787RCV002070573

NM_000064.4(C3):c.3303C>G (p.Cys1101Trp) SNV
Germline
Chr19:6693011 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA403625998 rs_1236557685

2 SubmittersRCV001200614

NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) SNV
Unknown
Chr19:6690648 Pathogenic Atypical hemolytic-uremic syndrome No Assertion Criteria Provided
CA403624011 rs_1918142335

1 SubmittersRCV001328273

NM_000064.4(C3):c.1028G>A (p.Arg343His) SNV
Germline
Chr19:6712599 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9129579 rs_373511900

4 SubmittersRCV001311153RCV005532928

NM_000064.4(C3):c.732C>A (p.Tyr244Ter) SNV
Germline
Chr19:6714033 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403642966 rs_1967980468

1 SubmittersRCV001311154

NM_000064.4(C3):c.481C>T (p.Arg161Trp) SNV
Germline
Chr19:6718117 Pathogenic Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Multiple Submitters
No Conflicts
CA403644909 rs_776423109

4 SubmittersRCV001507921RCV002466678

NM_000064.4(C3):c.1004-5C>T SNV
Germline
Chr19:6712628 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA2573054838 rs_2145430033

2 SubmittersRCV001815848

NM_000064.4(C3):c.268-2A>G SNV
Germline
Chr19:6718414 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403645385 rs_112310930

1 SubmittersRCV001977904

NM_000064.4(C3):c.1846-2A>C SNV
Germline
Chr19:6707931 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403638608 rs_2145423487

1 SubmittersRCV002031409

NM_000064.4(C3):c.1887G>A (p.Pro629=) SNV
Germline
Chr19:6707888 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129282 rs_747150559

2 SubmittersRCV001906517RCV002490211

NM_000064.4(C3):c.1215C>T (p.Gly405=) SNV
Germline
Chr19:6712311 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129529 rs_749682730

2 SubmittersRCV001910159RCV005016813

NM_000064.4(C3):c.683-4C>G SNV
Germline
Chr19:6714086 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Conflicting Classifications
CA9129710 rs_377240996

3 SubmittersRCV002118805RCV002294512RCV002500209

NM_000064.4(C3):c.1923C>T (p.Asp641=) SNV
Germline
Chr19:6707852 Conflicting classifications of pathogenicity Condition: not provided
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Conflicting Classifications
CA9129271 rs_113044084

3 SubmittersRCV002132863RCV002500188

NM_000064.4(C3):c.987C>T (p.Thr329=) SNV
Germline
Chr19:6713205 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome
Criteria Provided
Conflicting Classifications
CA9129607 rs_748313429

4 SubmittersRCV002204317RCV002496143RCV002294516

NM_000064.4(C3):c.2050G>A (p.Gly684Ser) SNV
Germline
Chr19:6707271 Conflicting classifications of pathogenicity Condition: not provided Criteria Provided
Conflicting Classifications
CA9129199 rs_201872466

2 SubmittersRCV002215261

NM_000064.4(C3):c.2441-16G>T SNV
Germline
Chr19:6697810 Conflicting classifications of pathogenicity Condition: not provided
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Complement component 3 deficiency
Criteria Provided
Conflicting Classifications
CA9129062 rs_201726041

2 SubmittersRCV002139394RCV005017135

NM_000064.4(C3):c.3490-10T>G SNV
Germline
Chr19:6686912 Conflicting classifications of pathogenicity Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA9128701 rs_372843505

3 SubmittersRCV002104929RCV003331293

NM_000064.4(C3):c.387C>G (p.Tyr129Ter) SNV
Germline
Chr19:6718293 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403645119 rs_2145436814

1 SubmittersRCV002224681

NM_000064.4(C3):c.1119+1G>A SNV
Germline
Chr19:6712507 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403641587 rs_2512264297

1 SubmittersRCV002292977

NM_000064.4(C3):c.522G>A (p.Pro174=) SNV
Germline
Chr19:6714429 Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA9129784 rs_376520694

2 SubmittersRCV002294709RCV003097862

NM_000064.4(C3):c.485C>G (p.Thr162Arg) SNV
Germline
Chr19:6718113 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403644901 rs_2512270762

1 SubmittersRCV003064537

NM_000064.4(C3):c.4870A>T (p.Lys1624Ter) SNV
Germline
Chr19:6678004 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403610700 rs_2512223966

1 SubmittersRCV002511913

NM_000064.4(C3):c.3563C>T (p.Thr1188Ile) SNV
Germline
Chr19:6686829 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA403621093 rs_2512236070

2 SubmittersRCV002715517RCV004603221

NM_000064.4(C3):c.2950+2T>G SNV
Germline
Chr19:6696377 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA304785043 rs_112731263

1 SubmittersRCV002899311

NM_000064.4(C3):c.4947C>T (p.Leu1649=) SNV
Germline
Chr19:6677927 Conflicting classifications of pathogenicity Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Conflicting Classifications
CA9128194 rs_377762182

2 SubmittersRCV002962217RCV003224639

NM_000064.4(C3):c.3551A>G (p.Gln1184Arg) SNV
Germline
Chr19:6686841 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA403621228 rs_1237544125

2 SubmittersRCV003009388RCV005535486

NM_000064.4(C3):c.1602C>A (p.Tyr534Ter) SNV
Germline
Chr19:6710723 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403640385 rs_2512262130

1 SubmittersRCV003049689

NM_000064.4(C3):c.3489+2T>C SNV
Germline
Chr19:6690627 Likely pathogenic Complement component 3 deficiency Criteria Provided
Single Submitter
CA403623857 rs_112977278

1 SubmittersRCV003140518

NM_000064.4(C3):c.4030-2A>G SNV
Germline
Chr19:6684652 Likely pathogenic C3 deficiency
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA9128538 rs_113782618

2 SubmittersRCV003236279RCV005102480

NM_000064.4(C3):c.75-1G>A SNV
Germline
Chr19:6719404 Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly Criteria Provided
Single Submitter
CA403646345 rs_112780195

1 SubmittersRCV003320432

NM_000064.4(C3):c.600-1G>T SNV
Germline
Chr19:6714249 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403643288 rs_2512267009

1 SubmittersRCV003480503

NM_000064.4(C3):c.3969+2T>C SNV
Germline
Chr19:6684986 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403618162 rs_2512233215

1 SubmittersRCV003545307

NM_000064.4(C3):c.2209C>T (p.Gln737Ter) SNV
Germline
Chr19:6707112 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403636852 rs_2512257929

1 SubmittersRCV003572254

NM_000064.4(C3):c.2479C>T (p.Gln827Ter) SNV
Germline
Chr19:6697756 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403634068 rs_1967571311

1 SubmittersRCV003686114

NM_000064.4(C3):c.2965C>T (p.Gln989Ter) SNV
Germline
Chr19:6694620 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403629837 rs_1179773177

1 SubmittersRCV003688106

NM_000064.4(C3):c.1156C>T (p.Arg386Ter) SNV
Germline
Chr19:6712370 Pathogenic Condition: not provided Criteria Provided
Single Submitter
CA403641497 rs_2512264048

1 SubmittersRCV003688423

NM_000064.4(C3):c.2950+1G>A SNV
Germline
Chr19:6696378 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
CA9128908 rs_780405372

1 SubmittersRCV003702608

NM_000064.4(C3):c.2290C>T (p.Arg764Ter) SNV
Germline
Chr19:6702535 Pathogenic/Likely pathogenic Condition: not provided
Complement component 3 deficiency
Atypical hemolytic-uremic syndrome with C3 anomaly
Age related macular degeneration 9
Criteria Provided
Multiple Submitters
No Conflicts
CA9129130 rs_551385421

2 SubmittersRCV003838012RCV005015009

NM_000064.4(C3):c.2712G>T (p.Lys904Asn) SNV
Germline
Chr19:6697428 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA9128985 rs_761075541

2 SubmittersRCV003867848RCV004369529

NM_000064.4(C3):c.1774C>T (p.Arg592Trp) SNV
Germline
Chr19:6709755 Likely pathogenic Familial Atypical Hemolytic-Uremic Syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA9129335 rs_771353792

2 SubmittersRCV003988253RCV004596614

NM_000064.4(C3):c.417C>G (p.Tyr139Ter) SNV
Germline
Chr19:6718263 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004791073

NM_000064.4(C3):c.2863+1G>T SNV
Germline
Chr19:6696592 Likely pathogenic Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Single Submitter

1 SubmittersRCV005015900

NM_000064.4(C3):c.2235C>T (p.Gly745=) SNV
Germline
Chr19:6707086 Conflicting classifications of pathogenicity Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015911RCV005112723

NM_000064.4(C3):c.1003+1G>A SNV
Germline
Chr19:6713188 Likely pathogenic Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Single Submitter

1 SubmittersRCV005015940

NM_000064.4(C3):c.774-1G>T SNV
Germline
Chr19:6713510 Likely pathogenic Complement component 3 deficiency
Age related macular degeneration 9
Atypical hemolytic-uremic syndrome with C3 anomaly
Criteria Provided
Single Submitter

1 SubmittersRCV005015943

NM_000064.4(C3):c.3958C>T (p.Arg1320Ter) SNV
Germline
Chr19:6684999 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV005171754