C3 (complement C3) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: C3 (complement C3) Homo sapiens
Analyze
Symbol: C3
Name: complement C3
RGD ID: 735504
HGNC Page HGNC:1318
Description: Enables C5L2 anaphylatoxin chemotactic receptor binding activity and receptor ligand activity. Involved in several processes, including positive regulation of lipid storage; positive regulation of macromolecule metabolic process; and positive regulation of transport. Located in extracellular space. Implicated in several diseases, including complement deficiency (multiple); macular degeneration (multiple); paroxysmal nocturnal hemoglobinuria; sickle cell anemia; and silicosis. Biomarker of several diseases, including artery disease (multiple); autoimmune disease (multiple); eye disease (multiple); glomerulonephritis (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acylation-stimulating protein cleavage product; AHUS5; ARMD9; ASP; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; C3a; C3a anaphylatoxin; C3b; complement component 3; complement component C3; complement component C3a; complement component C3b; CPAMD1; epididymis secretory sperm binding protein Li 62p; HEL-S-62p; prepro-C3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: C3P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,677,704 - 6,720,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,677,704 - 6,730,562 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,677,715 - 6,720,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,628,846 - 6,671,662 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,628,877 - 6,671,660NCBI
Celera196,619,402 - 6,662,926 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,440,030 - 6,483,146 (-)NCBIHuRef
CHM1_1196,678,095 - 6,720,521 (-)NCBICHM1_1
T2T-CHM13v2.0196,667,334 - 6,710,056 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP)
Acute Lung Injury  (ISO)
acute myocardial infarction  (IEP)
adult respiratory distress syndrome  (IEP)
age related macular degeneration 7  (IAGP)
age related macular degeneration 9  (EXP,IAGP)
alcoholic liver cirrhosis  (IEP)
Alzheimer's disease  (IAGP)
amyotrophic lateral sclerosis  (ISO)
anterior uveitis  (IEP,ISO)
arteriolosclerosis  (IEP)
asthma  (IAGP,IEP,ISO)
atopic dermatitis  (IEP)
atypical hemolytic-uremic syndrome  (EXP,IAGP,ISO)
autosomal recessive polycystic kidney disease  (IEP,ISO)
Bacteremia  (ISO)
bacterial pneumonia  (ISO)
boutonneuse fever  (IEP)
Brain Contusion  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Carcinoma, Lewis Lung  (ISO)
Cerebral Hemorrhage  (ISO)
Chemical and Drug Induced Liver Injury  (EXP)
Chemically-Induced Disorders  (EXP)
Chronic Allograft Dysfunction  (ISO)
chronic obstructive pulmonary disease  (IEP)
complement component 3 deficiency  (EXP,IAGP,ISS)
congenital hemolytic anemia  (IAGP)
conjunctivitis  (IEP)
COVID-19  (IAGP,IEP)
Diabetic Nephropathies  (ISO)
Drug-Related Side Effects and Adverse Reactions  (EXP)
dry eye syndrome  (IEP)
erythema nodosum  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Encephalomyelitis  (ISO)
Experimental Autoimmune Myasthenia Gravis  (ISO)
Experimental Autoimmune Uveoretinitis  (ISO)
factor VIII deficiency  (IEP)
fetal alcohol spectrum disorder  (ISO)
focal segmental glomerulosclerosis  (IAGP)
focal segmental glomerulosclerosis 1  (IAGP)
Fuchs' endothelial dystrophy  (IEP)
genetic disease  (IAGP)
glomerulonephritis  (ISO)
Hematuria  (IEP)
Henoch-Schoenlein purpura  (EXP)
hepatocellular carcinoma  (ISO)
herpes simplex  (ISO)
Herpesviridae Infections  (ISO)
high grade glioma  (ISO)
human immunodeficiency virus infectious disease  (IEP)
Human Influenza  (ISO)
Hyperalgesia  (ISO)
hypertension  (ISO)
IgA glomerulonephritis  (IEP)
Insulin Resistance  (EXP)
kidney disease  (IAGP)
Kidney Reperfusion Injury  (ISO)
Kuhnt-Junius degeneration  (IAGP)
leishmaniasis  (ISO)
lepromatous leprosy  (IEP)
Liver Reperfusion Injury  (ISO)
lung disease  (ISO)
lupus nephritis  (EXP,IEP)
macular degeneration  (EXP,IAGP,ISO)
mastitis  (ISO)
melanoma  (ISO)
membranoproliferative glomerulonephritis  (IAGP)
membranous glomerulonephritis  (EXP,ISO)
Meningococcal Infections  (IEP)
metabolic dysfunction and alcohol associated liver disease  (ISO)
Metabolic Syndrome  (IEP)
middle cerebral artery infarction  (EXP,ISO)
mood disorder  (IEP)
mucolipidosis type IV  (IAGP)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
neurodegenerative disease  (ISO)
obesity  (ISO)
ocular hypertension  (IEP)
opiate dependence  (IEP)
Optic Nerve Injuries  (ISO)
otitis media  (ISO)
Otitis Media with Effusion  (IEP)
Paratuberculosis  (EXP)
paroxysmal nocturnal hemoglobinuria  (IDA)
pemphigus  (EXP)
Penetrating Wounds  (IDA)
pleurisy  (ISO)
Pneumococcal Pneumonia  (IEP,ISO)
pneumocystosis  (ISO)
pneumonia  (ISO)
pre-eclampsia  (ISO)
primary immunodeficiency disease  (EXP)
primary ovarian insufficiency  (IAGP)
pulmonary eosinophilia  (ISO)
pulmonary sarcoidosis  (IEP)
pulmonary tuberculosis  (IEP)
Radiation Pneumonitis  (IEP)
Refractory Anemia with Excess of Blasts  (IEP)
Reperfusion Injury  (ISO)
retinal degeneration  (ISO)
rheumatoid arthritis  (IEP)
rhinitis  (IEP,ISO)
Rhinosinusitis  (IEP)
sciatic neuropathy  (ISO)
Sepsis  (ISO)
sickle cell anemia  (IDA,IEP)
silicosis  (IAGP)
Sjogren's syndrome  (ISO)
Subarachnoid Hemorrhage  (ISO)
systemic lupus erythematosus  (IDA)
systemic scleroderma  (IEP)
thrombophilia  (ISO)
Thrombotic Microangiopathies  (ISO)
transient cerebral ischemia  (EXP,ISO)
tropical spastic paraparesis  (IEP)
type 1 diabetes mellitus  (IEP)
type 2 diabetes mellitus  (EXP)
ulcerative colitis  (EXP)
Viral Bronchiolitis  (IAGP,ISO)
vitiligo  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(S)-colchicine  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP,ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-methylcholanthrene  (EXP,ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
9-phenanthrol  (EXP)
acetamide  (ISO)
afimoxifene  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
aluminium oxide  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP,ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atorvastatin calcium  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
calciol  (ISO)
capecitabine  (EXP)
carbon nanotube  (EXP,ISO)
carnosic acid  (ISO)
chlordecone  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
chondroitin sulfate  (EXP)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
corosolic acid  (EXP)
corticosterone  (ISO)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
D-glucose  (ISO)
D-penicillamine  (ISO)
daidzein  (ISO)
danazol  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diethyl malate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (EXP,ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
fentanyl  (ISO)
fenthion  (ISO)
fenvalerate  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (ISO)
glycidol  (ISO)
glycidyl methacrylate  (EXP)
glyphosate  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (ISO)
heparin  (EXP)
herbicide  (ISO)
hydrazine  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
icariin  (ISO)
indometacin  (ISO)
isoflavones  (ISO)
isoprenaline  (EXP,ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (EXP)
lead(0)  (EXP)
levonorgestrel  (ISO)
lipopolysaccharide  (ISO)
magnesium atom  (ISO)
mangiferin  (ISO)
medroxyprogesterone acetate  (ISO)
mercury atom  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
methacholine chloride  (ISO)
methidathion  (ISO)
methotrexate  (EXP,ISO)
methoxychlor  (ISO)
methylmercury chloride  (ISO)
methyltestosterone  (EXP)
microcystin-LR  (ISO)
mifepristone  (ISO)
Mizoribine  (ISO)
mycotoxin  (ISO)
N-acetyl-L-cysteine  (ISO)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
neoechinulin A  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nilotinib  (ISO)
nitrofen  (ISO)
nitroglycerin  (EXP)
Nonylphenol  (ISO)
olanzapine  (EXP)
ozone  (ISO)
p-tert-Amylphenol  (ISO)
paclitaxel  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pemetrexed  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
pifithrin-?  (ISO)
pirinixic acid  (ISO)
poly(styrene)  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
procymidone  (ISO)
progesterone  (ISO)
propofol  (EXP)
raloxifene  (ISO)
reactive oxygen species  (ISO)
reserpine  (ISO)
resveratrol  (EXP,ISO)
rofecoxib  (EXP)
rosuvastatin calcium  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sophoraflavanone B  (ISO)
SU6656  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
TMC-120A  (ISO)
toluene  (ISO)
trans-ferulic acid  (ISO)
trichloroethene  (ISO)
triclosan  (EXP,ISO)
trimegestone  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zearalenone  (ISO)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc sulfate  (ISO)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
amyloid-beta clearance  (IEA,ISS)
B cell activation  (IDA)
complement activation  (IBA,IEA,IMP,ISO)
complement activation, alternative pathway  (IEA)
complement activation, classical pathway  (IEA)
complement receptor mediated signaling pathway  (IEA)
complement-dependent cytotoxicity  (IEA,ISO)
complement-mediated synapse pruning  (IEA,ISS)
fatty acid metabolic process  (IEA)
G protein-coupled receptor signaling pathway  (TAS)
immune response  (TAS)
inflammatory response  (IEA)
innate immune response  (ISO)
neuron remodeling  (IEA,ISS)
oviduct epithelium development  (IEA,ISO)
positive regulation of activation of membrane attack complex  (IEA)
positive regulation of angiogenesis  (IEA)
positive regulation of apoptotic cell clearance  (IMP)
positive regulation of D-glucose transmembrane transport  (IDA)
positive regulation of developmental growth  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of G protein-coupled receptor signaling pathway  (IDA)
positive regulation of lipid storage  (IDA)
positive regulation of phagocytosis  (IEA,ISO)
positive regulation of phagocytosis, engulfment  (IEA,ISS)
positive regulation of protein phosphorylation  (IDA)
positive regulation of receptor-mediated endocytosis  (IEA,ISS)
positive regulation of type IIa hypersensitivity  (IEA,ISO)
positive regulation of vascular endothelial growth factor production  (IDA)
regulation of triglyceride biosynthetic process  (IDA)
response to bacterium  (IEA,ISO)
response to estradiol  (ISO)
response to estrogen  (ISO)
response to glucocorticoid  (ISO)
response to magnesium ion  (ISO)
response to progesterone  (ISO)
response to xenobiotic stimulus  (ISO)
retina development in camera-type eye  (ISO)
signal transduction  (TAS)
tolerance induction  (ISO)
vascular associated smooth muscle cell differentiation  (ISO)
vertebrate eye-specific patterning  (IEA,ISS)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Complement components (C3, C4) as inflammatory markers in asthma. Abdel Fattah M, etal., Indian J Pediatr. 2010 Jul;77(7):771-3. Epub 2010 Jun 29.
2. Intraglomerular synthesis of complement C3 and its activation products in IgA nephropathy. Abe K, etal., Nephron. 2001 Mar;87(3):231-9.
3. Pneumolysin-induced complement depletion during experimental pneumococcal bacteremia. Alcantara RB, etal., Infect Immun. 2001 Jun;69(6):3569-75. doi: 10.1128/IAI.69.6.3569-3575.2001.
4. C-reactive protein and complement components but not other acute-phase reactants discriminate between clinical subsets and organ damage in systemic lupus erythematosus. Amezcua-Guerra LM, etal., Clin Lab. 2011;57(7-8):607-13.
5. Treatment with captopril abrogates the altered expression of alpha1 macroglobulin and alpha1 antiproteinase in sera of spontaneously hypertensive rats. Aminudin N, etal., Proteome Sci. 2012 Mar 15;10(1):17. doi: 10.1186/1477-5956-10-17.
6. Complement proteins and C3 anaphylatoxin in the tears of patients with conjunctivitis. Ballow M, etal., J Allergy Clin Immunol. 1985 Sep;76(3):473-6.
7. Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families. Barnes KC, etal., Genes Immun. 2006 Jan;7(1):27-35.
8. Complement abnormalities during an epidemic of group B meningococcal infection in children. Beatty DW, etal., Clin Exp Immunol. 1986 Jun;64(3):465-70.
9. Up-regulation of endothelial cell adhesion molecules characterizes disease activity in systemic lupus erythematosus. The Shwartzman phenomenon revisited. Belmont HM, etal., Arthritis Rheum. 1994 Mar;37(3):376-83.
10. Dynamics of intrapulmonary bacterial growth in a murine model of repeated microaspiration. Ben-David I, etal., Am J Respir Cell Mol Biol. 2005 Nov;33(5):476-82. Epub 2005 Jul 13.
11. Molecular basis of hereditary C3 deficiency. Botto M, etal., J Clin Invest. 1990 Oct;86(4):1158-63.
12. Hostility, anger, and depression predict increases in C3 over a 10-year period. Boyle SH, etal., Brain Behav Immun. 2007 Aug;21(6):816-23. doi: 10.1016/j.bbi.2007.01.008. Epub 2007 Feb 23.
13. Hepatic gene expression and lipid parameters in complement C3(-/-) mice that do not develop ethanol-induced steatosis. Bykov I, etal., J Hepatol. 2007 May;46(5):907-14. doi: 10.1016/j.jhep.2006.11.020. Epub 2007 Jan 2.
14. Plasma proteomic analysis may identify new markers for radiation-induced lung toxicity in patients with non-small-cell lung cancer. Cai XW, etal., Int J Radiat Oncol Biol Phys. 2010 Jul 1;77(3):867-76.
15. Proteomic analysis of rat plasma following transient focal cerebral ischemia. Chen R, etal., Biomark Med. 2011 Dec;5(6):837-46.
16. Beneficial effect of the polysaccharides from Bupleurum smithii var. parvifolium on "two-hit" acute lung injury in rats. Cheng XQ, etal., Inflammation. 2012 Oct;35(5):1715-22. doi: 10.1007/s10753-012-9489-7.
17. Increased activation of the alternative complement pathway in sickle cell disease. Chudwin DS, etal., Clin Immunol Immunopathol. 1985 Oct;37(1):93-7.
18. Complement deposition and microglial activation in the outer retina in light-induced retinopathy: inhibition by a 5-HT1A agonist. Collier RJ, etal., Invest Ophthalmol Vis Sci. 2011 Oct 11;52(11):8108-16. doi: 10.1167/iovs.10-6418.
19. Complement levels in pneumococcal pneumonia. Coonrod JD and Rylko-Bauer B, Infect Immun. 1977 Oct;18(1):14-22.
20. Complement activation contributes to hypoxic-ischemic brain injury in neonatal rats. Cowell RM, etal., J Neurosci. 2003 Oct 15;23(28):9459-68.
21. Increased serum complement component 3 and mannose-binding lectin levels in adult Chinese patients with chronic rhinosinusitis. Cui YH, etal., Rhinology. 2009 Jun;47(2):187-91.
22. Intravenous immunoglobulin (IVIG) attenuates antibody binding in acute haemorrhagic immunopneumonitis in a rat model of complement-dependent lung injury. Dantas M, etal., Clin Exp Immunol. 2000 Jul;121(1):139-45.
23. Cutting edge: the absence of C3 demonstrates a role for complement in Th2 effector functions in a murine model of pulmonary allergy. Drouin SM, etal., J Immunol. 2001 Oct 15;167(8):4141-5.
24. Endogenous C1-inhibitor production and expression in the heart after acute myocardial infarction. Emmens RW, etal., Cardiovasc Pathol. 2016 Jan-Feb;25(1):33-9. doi: 10.1016/j.carpath.2015.09.006. Epub 2015 Sep 25.
25. CD36-mediated hematoma absorption following intracerebral hemorrhage: negative regulation by TLR4 signaling. Fang H, etal., J Immunol. 2014 Jun 15;192(12):5984-92. doi: 10.4049/jimmunol.1400054. Epub 2014 May 7.
26. Autoantibodies in patients with chronic obstructive pulmonary disease. Feghali-Bostwick CA, etal., Am J Respir Crit Care Med. 2008 Jan 15;177(2):156-63. Epub 2007 Nov 1.
27. The complement anaphylatoxin C5a induces apoptosis in adrenomedullary cells during experimental sepsis. Flierl MA, etal., PLoS One. 2008 Jul 2;3(7):e2560.
28. Anti-ischemia/reperfusion of C1 inhibitor in myocardial cell injury via regulation of local myocardial C3 activity. Fu J, etal., Biochem Biophys Res Commun. 2006 Nov 10;350(1):162-8. Epub 2006 Sep 15.
29. A single localized dose of enzyme-responsive hydrogel improves long-term survival of a vascularized composite allograft. Gajanayake T, etal., Sci Transl Med. 2014 Aug 13;6(249):249ra110. doi: 10.1126/scitranslmed.3008778.
30. Serum markers of inflammation and oxidative stress in chronic opium (Taryak) smokers. Ghazavi A, etal., Immunol Lett. 2013 Jun;153(1-2):22-6. doi: 10.1016/j.imlet.2013.07.001. Epub 2013 Jul 12.
31. Vaccinia virus complement control protein (VCP) improves kidney structure and function following ischemia/reperfusion injury in rats. Ghebremariam YT, etal., J Surg Res. 2010 Apr;159(2):747-54. doi: 10.1016/j.jss.2009.04.049. Epub 2009 Jun 6.
32. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
33. CD36 deficiency increases insulin sensitivity in muscle, but induces insulin resistance in the liver in mice. Goudriaan JR, etal., J Lipid Res. 2003 Dec;44(12):2270-7. Epub 2003 Aug 16.
34. A murine model for the study of mycotic mastitis. Guhad FA, etal., J Comp Pathol. 1995 Nov;113(4):315-25.
35. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. Hasegawa K, etal., Hum Genet. 2004 Sep;115(4):295-301.
36. Inhibition of classical complement activation attenuates liver ischaemia and reperfusion injury in a rat model. Heijnen BH, etal., Clin Exp Immunol. 2006 Jan;143(1):15-23.
37. Complement component 3 (C3) expression in the hippocampus after excitotoxic injury: role of C/EBPβ. Hernandez-Encinas E, etal., J Neuroinflammation. 2016 Oct 21;13(1):276. doi: 10.1186/s12974-016-0742-0.
38. The complement system in Mediterranean spotted fever. Herrero-Herrero JI, etal., J Infect Dis. 1988 May;157(5):1093-5.
39. Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration. Hoh Kam J, etal., Am J Pathol. 2013 Aug;183(2):480-92. doi: 10.1016/j.ajpath.2013.04.008. Epub 2013 Jun 6.
40. Acquired C3 deficiency in patients with alcoholic cirrhosis predisposes to infection and increased mortality. Homann C, etal., Gut. 1997 Apr;40(4):544-9. doi: 10.1136/gut.40.4.544.
41. Beneficial effects of Panax notoginseng (Burkill) F. H. Chen flower saponins in rats with metabolic hypertension by inhibiting the activation of the renin-angiotensin-aldosterone system through complement 3. Huang Q, etal., BMC Complement Med Ther. 2023 Jan 18;23(1):13. doi: 10.1186/s12906-022-03828-2.
42. Effect of the C3a-receptor antagonist SB 290157 on anti-OVA polyclonal antibody-induced arthritis. Hutamekalin P, etal., J Pharmacol Sci. 2010;112(1):56-63. Epub 2010 Jan 6.
43. Oxidative stress in lymphoid tissues and complement activation in alcoholic mother rats and their newborns. Ince E, etal., Gen Physiol Biophys. 2019 Jan;38(1):91-100. doi: 10.4149/gpb_2018018. Epub 2019 Jan 18.
44. Association study of the C3 gene with adult and childhood asthma. Inoue H, etal., J Hum Genet. 2008;53(8):728-38. Epub 2008 Jun 20.
45. Genetic-biochemical criteria for individual sensitivity in development of occupational bronchopulmonary diseases. Izmerov NF, etal., Cent Eur J Public Health. 2002 Jun;10(1-2):35-41.
46. Complement C3 is required for the progression of cutaneous lesions and neutrophil attraction in Leishmania major infection. Jacobs T, etal., Med Microbiol Immunol. 2005 May;194(3):143-9. Epub 2004 Sep 17.
47. Intravenous immunoglobulin protects against experimental thrombotic microangiopathy. Jefferson JA, etal., Kidney Int. 2001 Sep;60(3):1018-25.
48. Suppression of complement regulatory proteins (CRPs) exacerbates experimental autoimmune anterior uveitis (EAAU). Jha P, etal., J Immunol. 2006 Jun 15;176(12):7221-31.
49. Inhibition of mannose-binding lectin reduces postischemic myocardial reperfusion injury. Jordan JE, etal., Circulation. 2001 Sep 18;104(12):1413-8.
50. Critical role of complement and viral evasion of complement in acute, persistent, and latent gamma-herpesvirus infection. Kapadia SB, etal., Immunity. 2002 Aug;17(2):143-55.
51. Involvement of complement in atopic dermatitis. Kapp A and Schopf E, Acta Derm Venereol Suppl (Stockh). 1985;114:152-4.
52. Phospholipase A in acute lung injury after trauma and sepsis: its relation to the inflammatory mediators PMN-elastase, C3a, and neopterin. Kellermann W, etal., Klin Wochenschr. 1989 Feb 1;67(3):190-5.
53. Renal C3 complement component: feed forward to diabetic kidney disease. Kelly KJ, etal., Am J Nephrol. 2015;41(1):48-56. doi: 10.1159/000371426. Epub 2015 Jan 30.
54. Innate immune defense against pneumococcal pneumonia requires pulmonary complement component C3. Kerr AR, etal., Infect Immun. 2005 Jul;73(7):4245-52.
55. Studies on type II collagen induced polyarthritis in rats. Effect of complement depletion. Kerwar SS, etal., J Immunopharmacol. 1981-1982;3(3-4):323-37.
56. Serum complement C3 predicts renal arteriolosclerosis in non-diabetic chronic kidney disease. Kojima C, etal., J Atheroscler Thromb. 2012;19(9):854-61. Epub 2012 Aug 1.
57. Potentiation of photodynamic therapy of cancer by complement: the effect of gamma-inulin. Korbelik M and Cooper PD, Br J Cancer. 2007 Jan 15;96(1):67-72. Epub 2006 Dec 5.
58. Complement component 3 (C 3) and diabetes mellitus. Krantz S, etal., Exp Clin Endocrinol. 1988 Mar;92(3):287-96.
59. Retinal synthesis and deposition of complement components induced by ocular hypertension. Kuehn MH, etal., Exp Eye Res. 2006 Sep;83(3):620-8. Epub 2006 May 4.
60. Complement-mediated regulation of the IL-17A axis is a central genetic determinant of the severity of experimental allergic asthma. Lajoie S, etal., Nat Immunol. 2010 Oct;11(10):928-35. Epub 2010 Aug 29.
61. [MRNA expression of complement C3 and C4 in rat nasal mucosa with allergic rhinitis]. Lang JT, etal., Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2006 Dec;41(12):928-31.
62. Expression and activation of complement protein and alveolar damage during Pneumocystis pneumonia. Lasbury ME, etal., J Eukaryot Microbiol. 2006;53 Suppl 1:S136-7.
63. Photodynamic therapy boosts anti-glioma immunity in mice: a dependence on the activities of T cells and complement C3. Li F, etal., J Cell Biochem. 2011 Oct;112(10):3035-43. doi: 10.1002/jcb.23228.
64. Complement activation contributes to leukocyte recruitment and neuropathic pain following peripheral nerve injury in rats. Li M, etal., Eur J Neurosci. 2007 Dec;26(12):3486-500. Epub 2007 Dec 4.
65. Essential role of factor B of the alternative complement pathway in complement activation and opsonophagocytosis during acute pneumococcal otitis media in mice. Li Q, etal., Infect Immun. 2011 Jul;79(7):2578-85. doi: 10.1128/IAI.00168-11. Epub 2011 Apr 18.
66. The protective effect of SCR(15-18) on cerebral ischemia-reperfusion injury. Li S, etal., Neurol Res. 2011 Oct;33(8):866-74. doi: 10.1179/1743132811Y.0000000016.
67. Complement activation is critical for placental ischemia-induced hypertension in the rat. Lillegard KE, etal., Mol Immunol. 2013 Nov;56(1-2):91-7. doi: 10.1016/j.molimm.2013.04.009. Epub 2013 May 15.
68. C5aR and C3aR antagonists each inhibit diet-induced obesity, metabolic dysfunction, and adipocyte and macrophage signaling. Lim J, etal., FASEB J. 2013 Feb;27(2):822-31. doi: 10.1096/fj.12-220582. Epub 2012 Nov 1.
69. Treatment with mycophenolate mofetil attenuates the development of Heymann nephritis. Luca ME, etal., Exp Nephrol. 2000 Mar-Apr;8(2):77-83.
70. Ethanol preconditioning reduces hepatic I/R injury by inhibiting the complement system activation. Ma ZW, etal., J Surg Res. 2011 Apr;166(2):314-23. doi: 10.1016/j.jss.2009.05.037. Epub 2009 Jun 18.
71. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Maga TK, etal., Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256.
72. Elevated expression of complement C3 protein in chemically induced hepatotumorogenesis in Wistar rats: a correlative proteomics and histopathological study. Malik S, etal., Exp Toxicol Pathol. 2013 Sep;65(6):767-73. doi: 10.1016/j.etp.2012.11.003. Epub 2012 Dec 12.
73. Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. McKay GJ, etal., Mol Vis. 2010 Feb 10;16:194-9.
74. Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size. Merle BMJ, etal., Invest Ophthalmol Vis Sci. 2020 May 11;61(5):17. doi: 10.1167/iovs.61.5.17.
75. Complement activation during painful crisis in sickle cell anemia. Mold C, etal., Clin Immunol Immunopathol. 1995 Sep;76(3 Pt 1):314-20.
76. Activated complement in inflamed aqueous humor. Mondino BJ, etal., Invest Ophthalmol Vis Sci. 1984 Jul;25(7):871-3.
77. Overexpression of innate immune response genes in a model of recessive polycystic kidney disease. Mrug M, etal., Kidney Int. 2008 Jan;73(1):63-76. Epub 2007 Oct 24.
78. Complement components (C3, C4) in childhood asthma. Najam FI, etal., Indian J Pediatr. 2005 Sep;72(9):745-9.
79. Complement C3 cleavage and cytokines interleukin-1beta and tumor necrosis factor-alpha in otitis media with effusion. Narkio-Makela M, etal., Laryngoscope. 2000 Oct;110(10 Pt 1):1745-9.
80. Development of Sjogren's syndrome in nonobese diabetic-derived autoimmune-prone C57BL/6.NOD-Aec1Aec2 mice is dependent on complement component-3. Nguyen CQ, etal., J Immunol. 2007 Aug 15;179(4):2318-29.
81. Abnormal activation of complement C3 in the spinal dorsal horn is closely associated with progression of neuropathic pain. Nie F, etal., Int J Mol Med. 2013 Jun;31(6):1333-42. doi: 10.3892/ijmm.2013.1344. Epub 2013 Apr 11.
82. Topical fluorometholone treatment and desiccating stress change inflammatory protein expression in tears. Nättinen J, etal., Ocul Surf. 2018 Jan;16(1):84-92. doi: 10.1016/j.jtos.2017.09.003. Epub 2017 Sep 14.
83. A Protective Role for Complement C3 Protein during Pandemic 2009 H1N1 and H5N1 Influenza A Virus Infection. O'Brien KB, etal., PLoS One. 2011 Mar 9;6(3):e17377.
84. Complement activation following optic nerve crush in the adult rat. Ohlsson M, etal., J Neurotrauma. 2003 Sep;20(9):895-904.
85. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
86. C-reactive protein and natural IgM antibodies are activators of complement in a rat model of intestinal ischemia and reperfusion. Padilla ND, etal., Surgery. 2007 Nov;142(5):722-33.
87. Increased enzymatic activity of the alternative pathway convertase when bound to the erythrocytes of paroxysmal nocturnal hemoglobinuria. Parker CJ, etal., J Clin Invest. 1982 Feb;69(2):337-46.
88. Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population. Pei XT, etal., Curr Eye Res. 2009 Aug;34(8):615-22.
89. Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. Pickering MC, etal., J Exp Med. 2007 Jun 11;204(6):1249-56. Epub 2007 May 21.
90. Requirement of activation of complement C3 and C5 for antiphospholipid antibody-mediated thrombophilia. Pierangeli SS, etal., Arthritis Rheum. 2005 Jul;52(7):2120-4.
91. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
92. A role for immune complexes in enhanced respiratory syncytial virus disease. Polack FP, etal., J Exp Med. 2002 Sep 16;196(6):859-65.
93. Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation. Proitsi P, etal., Neurobiol Aging. 2012 Aug;33(8):1843.e9-17. doi: 10.1016/j.neurobiolaging.2011.12.036. Epub 2012 Feb 1.
94. Cirrhosis-induced defects in innate pulmonary defenses against Streptococcus pneumoniae. Propst-Graham KL, etal., BMC Microbiol. 2007 Oct 23;7:94.
95. Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection. Ramlall V, etal., Nat Med. 2020 Aug 3. pii: 10.1038/s41591-020-1021-2. doi: 10.1038/s41591-020-1021-2.
96. Genetic deficiency of C3 as well as CNS-targeted expression of the complement inhibitor sCrry ameliorates experimental autoimmune uveoretinitis. Read RW, etal., Exp Eye Res. 2006 Mar;82(3):389-94. Epub 2005 Sep 6.
97. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
98. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
99. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
100. Alterations in the aqueous humor proteome in patients with Fuchs endothelial corneal dystrophy. Richardson MR, etal., Mol Vis. 2010 Nov 11;16:2376-83.
101. Activation of the complement system in the adult respiratory distress syndrome. Robbins RA, etal., Am Rev Respir Dis. 1987 Mar;135(3):651-8.
102. Profiling and identification of cerebrospinal fluid proteins in a rat EAE model of multiple sclerosis. Rosenling T, etal., J Proteome Res. 2012 Apr 6;11(4):2048-60. Epub 2012 Feb 23.
103. The terminal pathway of the complement system is activated in focal penetrating but not in mild diffuse traumatic brain injury. Rostami E, etal., J Neurotrauma. 2013 Dec 1;30(23):1954-65. doi: 10.1089/neu.2012.2583. Epub 2013 Oct 30.
104. Complement component 3C3 and C3a receptor are required in chitin-dependent allergic sensitization to Aspergillus fumigatus but dispensable in chitin-induced innate allergic inflammation. Roy RM, etal., MBio. 2013 Apr 2;4(2). pii: e00162-13. doi: 10.1128/mBio.00162-13.
105. Analysis of complement expression in light-induced retinal degeneration: synthesis and deposition of C3 by microglia/macrophages is associated with focal photoreceptor degeneration. Rutar M, etal., Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5347-58. doi: 10.1167/iovs.10-7119.
106. Elevated levels of iC3b and C4d, but not Bb, complement fragments from plasma of persons infected with human T cell leukemia virus (HTLV) with HTLV-I-associated myelopathy/tropical spastic paraparesis. Saarloos MN, etal., J Infect Dis. 1995 Oct;172(4):1095-7.
107. Role of complement in host defense against pneumococcal otitis media. Sabharwal V, etal., Infect Immun. 2009 Mar;77(3):1121-7. doi: 10.1128/IAI.01148-08. Epub 2009 Jan 12.
108. Breakdown product of factor B as an index of complement activation in lepromatous leprosy and its relation with bacillary load. Saha K, etal., Scand J Immunol. 1983 Jan;17(1):37-43.
109. Ultrastructural localization of immune complexes (IgG and C3) at the end-plate in experimental autoimmune myasthenia gravis. Sahashi K, etal., J Neuropathol Exp Neurol. 1978 Mar-Apr;37(2):212-23.
110. Increased synthesis of secreted hepatic proteins during abdominal sepsis. Sax HC, etal., J Surg Res. 1988 Feb;44(2):109-16.
111. Alterations in gene expression of complement components in chronic rhinosinusitis. Schlosser RJ, etal., Am J Rhinol Allergy. 2010 Jan-Feb;24(1):21-5.
112. Comprehensive evaluation of complement components in the course of type I (Lepra) and type II (ENL) reactions. Sehgal VN, etal., Int J Dermatol. 1989 Jan-Feb;28(1):32-5.
113. Activation of the complement system in systemic sclerosis. Relationship to clinical severity. Senaldi G, etal., Arthritis Rheum. 1989 Oct;32(10):1262-7.
114. Defective solubilization of immune complexes and activation of the complement system in patients with pulmonary tuberculosis. Senbagavalli P, etal., J Clin Immunol. 2009 Sep;29(5):674-80. Epub 2009 May 27.
115. Vascular C3 deposits on renal biopsy in pediatric patients with hematuria. Sheth RD, etal., Pediatr Nephrol. 2000 Aug;14(8-9):797-801.
116. Involvement of dipeptidyl peptidase IV in immune complex-mediated glomerulonephritis. Shinosaki T, etal., Lab Invest. 2002 Apr;82(4):505-13.
117. Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes. Siezen CL, etal., Pediatr Infect Dis J. 2009 Apr;28(4):333-5.
118. A quantitative proteomic analysis of soluble bronchoalveolar fluid proteins from patients with sarcoidosis and chronic beryllium disease. Silva E, etal., Sarcoidosis Vasc Diffuse Lung Dis. 2007 Mar;24(1):24-32.
119. Topical application of complement C3 in collagen formulation increases early wound healing. Sinno H, etal., J Dermatolog Treat. 2013 Apr;24(2):141-7. doi: 10.3109/09546634.2011.631977. Epub 2011 Nov 21.
120. C3 R102G polymorphism increases risk of age-related macular degeneration. Spencer KL, etal., Hum Mol Genet. 2008 Jun 15;17(12):1821-4. doi: 10.1093/hmg/ddn075. Epub 2008 Mar 6.
121. Activation of complement C3, C5, and C9 genes in tumors treated by photodynamic therapy. Stott B and Korbelik M, Cancer Immunol Immunother. 2007 May;56(5):649-58. Epub 2006 Sep 1.
122. Complement Inhibition Alleviates Paraquat-Induced Acute Lung Injury. Sun S, etal., Am J Respir Cell Mol Biol. 2011 Mar 18.
123. Redundant and alternative roles for activating Fc receptors and complement in an antibody-dependent model of autoimmune vitiligo. Trcka J, etal., Immunity. 2002 Jun;16(6):861-8.
124. Replication of genetic association studies in asthma and related phenotypes. Undarmaa S, etal., J Hum Genet. 2010 Jun;55(6):342-9. Epub 2010 Apr 16.
125. The metabolic syndrome in relation to complement component 3 and postprandial lipemia in patients from an outpatient lipid clinic and healthy volunteers. van Oostrom AJ, etal., Atherosclerosis. 2007 Jan;190(1):167-73. Epub 2006 Feb 20.
126. Circulating immune complexes and complement levels in hemophilic children. Verroust F, etal., J Clin Lab Immunol. 1981 Sep;6(2):127-30.
127. Cutting edge: myeloid complement C3 enhances the humoral response to peripheral viral infection. Verschoor A, etal., J Immunol. 2001 Sep 1;167(5):2446-51.
128. [Changes of the complement system in myelodysplastic syndromes]. Villaescusa Blanco R, etal., Sangre (Barc). 1998 Jun;43(3):210-2.
129. Uncovering the protective mechanism of Huoxue Anxin Recipe against coronary heart disease by network analysis and experimental validation. Wang J, etal., Biomed Pharmacother. 2020 Jan;121:109655. doi: 10.1016/j.biopha.2019.109655. Epub 2019 Nov 14.
130. Complement C3 participates in the function and mechanism of traumatic brain injury at simulated high altitude. Wei L, etal., Brain Res. 2020 Jan 1;1726:146423. doi: 10.1016/j.brainres.2019.146423. Epub 2019 Oct 22.
131. The complement factor C5a contributes to pathology in a rat model of amyotrophic lateral sclerosis. Woodruff TM, etal., J Immunol. 2008 Dec 15;181(12):8727-34.
132. Cellular and humoral immune responses in the early stages of diabetic nephropathy in NOD mice. Xiao X, etal., J Autoimmun. 2009 Mar;32(2):85-93. doi: 10.1016/j.jaut.2008.12.003. Epub 2009 Feb 5.
133. A common complement C3 variant is associated with protection against wet age-related macular degeneration in a Japanese population. Yanagisawa S, etal., PLoS One. 2011;6(12):e28847. doi: 10.1371/journal.pone.0028847. Epub 2011 Dec 12.
134. A new mouse model of autoimmune ocular myasthenia gravis. Yang H, etal., Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5101-11.
135. CD36 deficiency rescues lipotoxic cardiomyopathy. Yang J, etal., Circ Res. 2007 Apr 27;100(8):1208-17. Epub 2007 Mar 15.
136. Prostaglandin I2 plays a key role in zymosan-induced mouse pleurisy. Yuhki K, etal., J Pharmacol Exp Ther. 2008 May;325(2):601-9. Epub 2008 Feb 6.
137. A complex role for complement in allergic asthma. Zhang X and Kohl J, Expert Rev Clin Immunol. 2010 Mar;6(2):269-77.
138. Viral and host factors related to the clinical outcome of COVID-19. Zhang X, etal., Nature. 2020 May 20. pii: 10.1038/s41586-020-2355-0. doi: 10.1038/s41586-020-2355-0.
139. Brain edema after intracerebral hemorrhage in rats: the role of inflammation. Zhang X, etal., Neurol India. 2006 Dec;54(4):402-7.
140. Cardiospecific CD36 suppression by lentivirus-mediated RNA interference prevents cardiac hypertrophy and systolic dysfunction in high-fat-diet induced obese mice. Zhang Y, etal., Cardiovasc Diabetol. 2015 Jun 3;14:69. doi: 10.1186/s12933-015-0234-z.
141. Complement factor B is the downstream effector of TLRs and plays an important role in a mouse model of severe sepsis. Zou L, etal., J Immunol. 2013 Dec 1;191(11):5625-35. doi: 10.4049/jimmunol.1301903. Epub 2013 Oct 23.
142. Protective effects of Ephedra sinica extract on blood-brain barrier integrity and neurological function correlate with complement C3 reduction after subarachnoid hemorrhage in rats. Zuo S, etal., Neurosci Lett. 2015 Nov 16;609:216-22. doi: 10.1016/j.neulet.2015.10.056. Epub 2015 Oct 27.
Additional References at PubMed
PMID:162484   PMID:279011   PMID:1238393   PMID:1323007   PMID:1350678   PMID:1401896   PMID:1531292   PMID:1577777   PMID:1703437   PMID:1717583   PMID:1830068   PMID:1861080  
PMID:1976733   PMID:2387584   PMID:2473125   PMID:2579379   PMID:2584723   PMID:2824652   PMID:3052276   PMID:3260670   PMID:3279119   PMID:3421908   PMID:3488995   PMID:3546307  
PMID:3871945   PMID:4062888   PMID:4097977   PMID:6175959   PMID:6203109   PMID:6356427   PMID:6912277   PMID:6956911   PMID:7483825   PMID:7512600   PMID:7535292   PMID:7539791  
PMID:7590866   PMID:7642209   PMID:7893437   PMID:7911492   PMID:7961791   PMID:8406564   PMID:8416818   PMID:8471312   PMID:8630395   PMID:8648130   PMID:8702752   PMID:8845016  
PMID:8943712   PMID:9059512   PMID:9164946   PMID:9291131   PMID:9544576   PMID:9555951   PMID:9596584   PMID:9605165   PMID:9719152   PMID:9988761   PMID:10078261   PMID:10079271  
PMID:10085065   PMID:10358196   PMID:10382758   PMID:10432298   PMID:10608878   PMID:10610782   PMID:10622723   PMID:10882776   PMID:10946275   PMID:11058592   PMID:11073102   PMID:11086104  
PMID:11342658   PMID:11367533   PMID:11387479   PMID:11513971   PMID:11684127   PMID:11705926   PMID:11773063   PMID:11785295   PMID:11803045   PMID:11813855   PMID:11854358   PMID:11884542  
PMID:11896391   PMID:11939578   PMID:11979403   PMID:12006395   PMID:12165538   PMID:12438350   PMID:12477932   PMID:12511407   PMID:12540846   PMID:12645945   PMID:12679444   PMID:12754519  
PMID:12761187   PMID:12816955   PMID:12878586   PMID:12893820   PMID:12942785   PMID:12967641   PMID:14527961   PMID:14563826   PMID:14639503   PMID:14662858   PMID:14702039   PMID:14760718  
PMID:15033778   PMID:15090635   PMID:15187133   PMID:15199963   PMID:15241561   PMID:15342556   PMID:15381670   PMID:15383607   PMID:15489226   PMID:15550543   PMID:15590640   PMID:15648851  
PMID:15713467   PMID:15713468   PMID:15749882   PMID:15810889   PMID:15833747   PMID:15872081   PMID:16148107   PMID:16148115   PMID:16177781   PMID:16199891   PMID:16263699   PMID:16301317  
PMID:16335952   PMID:16339538   PMID:16449793   PMID:16452172   PMID:16502470   PMID:16516157   PMID:16530040   PMID:16570073   PMID:16612335   PMID:16627066   PMID:16670774   PMID:16809564  
PMID:16823297   PMID:16889542   PMID:16893076   PMID:17051150   PMID:17051160   PMID:17060630   PMID:17172439   PMID:17322907   PMID:17372315   PMID:17482181   PMID:17498719   PMID:17502296  
PMID:17520688   PMID:17634448   PMID:17684013   PMID:17703412   PMID:17762737   PMID:17767156   PMID:17984207   PMID:18039528   PMID:18039777   PMID:18054386   PMID:18061265   PMID:18174230  
PMID:18206145   PMID:18247123   PMID:18253759   PMID:18356838   PMID:18383369   PMID:18434316   PMID:18456336   PMID:18562232   PMID:18562603   PMID:18572187   PMID:18585783   PMID:18596911  
PMID:18631248   PMID:18671285   PMID:18682851   PMID:18694577   PMID:18702682   PMID:18755462   PMID:18760301   PMID:18796626   PMID:18802120   PMID:18805911   PMID:18854167   PMID:18936151  
PMID:18974840   PMID:19005416   PMID:19015224   PMID:19017934   PMID:19022911   PMID:19028820   PMID:19028829   PMID:19048105   PMID:19112495   PMID:19117936   PMID:19131662   PMID:19164292  
PMID:19168221   PMID:19179465   PMID:19196712   PMID:19202148   PMID:19225544   PMID:19234341   PMID:19246358   PMID:19247692   PMID:19255449   PMID:19259132   PMID:19263529   PMID:19265162  
PMID:19302245   PMID:19328844   PMID:19336475   PMID:19344414   PMID:19387462   PMID:19399715   PMID:19407382   PMID:19423540   PMID:19454698   PMID:19457998   PMID:19503104   PMID:19505474  
PMID:19549636   PMID:19559392   PMID:19590060   PMID:19661236   PMID:19665237   PMID:19670317   PMID:19680263   PMID:19694644   PMID:19703145   PMID:19767107   PMID:19773279   PMID:19797206  
PMID:19823576   PMID:19825847   PMID:19828715   PMID:19834535   PMID:19843088   PMID:19850835   PMID:19861685   PMID:19878567   PMID:19913121   PMID:19913840   PMID:19939777   PMID:19948975  
PMID:20042240   PMID:20089077   PMID:20091675   PMID:20104494   PMID:20105190   PMID:20105310   PMID:20139276   PMID:20139773   PMID:20173020   PMID:20188594   PMID:20237496   PMID:20238042  
PMID:20301541   PMID:20301598   PMID:20378178   PMID:20379614   PMID:20381870   PMID:20385819   PMID:20385826   PMID:20406964   PMID:20438785   PMID:20453728   PMID:20498262   PMID:20503287  
PMID:20523265   PMID:20576771   PMID:20603037   PMID:20628086   PMID:20628624   PMID:20644161   PMID:20664795   PMID:20706769   PMID:20807366   PMID:20817881   PMID:20837143   PMID:20841369  
PMID:20852386   PMID:20861866   PMID:20862287   PMID:20888482   PMID:20926033   PMID:20926148   PMID:20951140   PMID:21055811   PMID:21085669   PMID:21163532   PMID:21173647   PMID:21205667  
PMID:21270401   PMID:21308746   PMID:21317894   PMID:21362503   PMID:21402993   PMID:21404895   PMID:21414106   PMID:21415311   PMID:21435440   PMID:21462136   PMID:21464960   PMID:21501302  
PMID:21527715   PMID:21555552   PMID:21566112   PMID:21642543   PMID:21658310   PMID:21664558   PMID:21665990   PMID:21706294   PMID:21733505   PMID:21788512   PMID:21801245   PMID:21813769  
PMID:21816153   PMID:21873635   PMID:21953030   PMID:21966368   PMID:21979047   PMID:21988832   PMID:22007489   PMID:22074402   PMID:22089112   PMID:22132894   PMID:22138144   PMID:22145905  
PMID:22153860   PMID:22171262   PMID:22176838   PMID:22194611   PMID:22228414   PMID:22234447   PMID:22246034   PMID:22250080   PMID:22253322   PMID:22258234   PMID:22264230   PMID:22273503  
PMID:22324951   PMID:22361228   PMID:22390383   PMID:22393059   PMID:22415003   PMID:22456601   PMID:22516433   PMID:22518841   PMID:22542119   PMID:22553783   PMID:22565852   PMID:22635230  
PMID:22669319   PMID:22673887   PMID:22705344   PMID:22718507   PMID:22792353   PMID:22851413   PMID:22878256   PMID:22909298   PMID:22930722   PMID:22996269   PMID:23028341   PMID:23031360  
PMID:23056509   PMID:23068452   PMID:23071281   PMID:23086448   PMID:23098807   PMID:23134230   PMID:23134465   PMID:23206327   PMID:23209669   PMID:23233260   PMID:23235303   PMID:23235567  
PMID:23285141   PMID:23337555   PMID:23356914   PMID:23365660   PMID:23376485   PMID:23385359   PMID:23390291   PMID:23427180   PMID:23455636   PMID:23533145   PMID:23537682   PMID:23580065  
PMID:23619360   PMID:23628799   PMID:23639844   PMID:23661701   PMID:23719603   PMID:23750785   PMID:23764154   PMID:23833239   PMID:23878142   PMID:23892798   PMID:23956345   PMID:23963626  
PMID:23969887   PMID:23977229   PMID:23981509   PMID:23982842   PMID:24005838   PMID:24067430   PMID:24097068   PMID:24125410   PMID:24178974   PMID:24187101   PMID:24200836   PMID:24239583  
PMID:24260121   PMID:24287422   PMID:24327134   PMID:24330664   PMID:24356554   PMID:24363825   PMID:24367091   PMID:24428680   PMID:24440830   PMID:24452084   PMID:24453474   PMID:24489446  
PMID:24516199   PMID:24519512   PMID:24557084   PMID:24612979   PMID:24667918   PMID:24743347   PMID:24782052   PMID:24850720   PMID:24981860   PMID:24983375   PMID:25030055   PMID:25040699  
PMID:25109258   PMID:25135378   PMID:25188723   PMID:25275325   PMID:25281560   PMID:25299043   PMID:25322978   PMID:25324306   PMID:25349208   PMID:25388911   PMID:25466612   PMID:25488663  
PMID:25520093   PMID:25547047   PMID:25556624   PMID:25597615   PMID:25608561   PMID:25628052   PMID:25645918   PMID:25646095   PMID:25720829   PMID:25746915   PMID:25802332   PMID:25813686  
PMID:25835709   PMID:25848071   PMID:25879158   PMID:25888260   PMID:25889427   PMID:25897558   PMID:25907631   PMID:25934649   PMID:25964476   PMID:25973075   PMID:26043071   PMID:26186194  
PMID:26187133   PMID:26250513   PMID:26269006   PMID:26293614   PMID:26305563   PMID:26400934   PMID:26408241   PMID:26503818   PMID:26505407   PMID:26523990   PMID:26542163   PMID:26572892  
PMID:26618866   PMID:26627825   PMID:26718342   PMID:26767664   PMID:26897815   PMID:26914454   PMID:26945067   PMID:26986539   PMID:27013439   PMID:27029598   PMID:27029644   PMID:27085202  
PMID:27099955   PMID:27113631   PMID:27116510   PMID:27144164   PMID:27154286   PMID:27173435   PMID:27250206   PMID:27254108   PMID:27257040   PMID:27291248   PMID:27306948   PMID:27307199  
PMID:27436813   PMID:27461873   PMID:27465068   PMID:27492980   PMID:27497510   PMID:27662014   PMID:27717365   PMID:27747237   PMID:27801525   PMID:27814381   PMID:27900491   PMID:28095095  
PMID:28174050   PMID:28188738   PMID:28192370   PMID:28278205   PMID:28292891   PMID:28352659   PMID:28408754   PMID:28470643   PMID:28481947   PMID:28514442   PMID:28569420   PMID:28573137  
PMID:28576324   PMID:28582497   PMID:28671664   PMID:28675297   PMID:28687659   PMID:28697742   PMID:28739830   PMID:28742158   PMID:28801815   PMID:28855277   PMID:28860090   PMID:29029276  
PMID:29036223   PMID:29113906   PMID:29155219   PMID:29265514   PMID:29449217   PMID:29485352   PMID:29493039   PMID:29507755   PMID:29523638   PMID:29549164   PMID:29550264   PMID:29565179  
PMID:29695177   PMID:29721183   PMID:29729435   PMID:29742493   PMID:29791485   PMID:29850970   PMID:29872149   PMID:29888403   PMID:29968411   PMID:30078743   PMID:30104625   PMID:30107486  
PMID:30110629   PMID:30139746   PMID:30139996   PMID:30156437   PMID:30168048   PMID:30179527   PMID:30253188   PMID:30293775   PMID:30352574   PMID:30367535   PMID:30427941   PMID:30611277  
PMID:30612786   PMID:30741587   PMID:30814081   PMID:30825266   PMID:30989586   PMID:30998156   PMID:31180492   PMID:31254974   PMID:31273033   PMID:31315998   PMID:31409639   PMID:31433986  
PMID:31594818   PMID:31797533   PMID:31829184   PMID:31899330   PMID:31907994   PMID:31915256   PMID:31928530   PMID:31931851   PMID:31970928   PMID:31989759   PMID:32004338   PMID:32034129  
PMID:32080985   PMID:32132668   PMID:32168099   PMID:32187754   PMID:32293297   PMID:32296183   PMID:32305505   PMID:32328755   PMID:32499649   PMID:32571987   PMID:32682912   PMID:32724828  
PMID:32794619   PMID:32929329   PMID:32938727   PMID:32986170   PMID:33022573   PMID:33133060   PMID:33372665   PMID:33459487   PMID:33536243   PMID:33545068   PMID:33578311   PMID:33580248  
PMID:33658012   PMID:33765255   PMID:33847934   PMID:33961781   PMID:34077925   PMID:34105478   PMID:34117107   PMID:34205415   PMID:34233521   PMID:34360950   PMID:34424825   PMID:34700074  
PMID:34707103   PMID:34711595   PMID:34732716   PMID:34825085   PMID:34842470   PMID:34905051   PMID:34906905   PMID:34923262   PMID:34927448   PMID:34932275   PMID:35013218   PMID:35017157  
PMID:35124280   PMID:35143312   PMID:35220210   PMID:35271311   PMID:35391932   PMID:35669782   PMID:35831314   PMID:35871351   PMID:35944360   PMID:36095012   PMID:36180891   PMID:36205019  
PMID:36271889   PMID:36300783   PMID:36305765   PMID:36439156   PMID:36526897   PMID:36574265   PMID:36591264   PMID:36605203   PMID:36643920   PMID:36727395   PMID:36805858   PMID:36912080  
PMID:36964488   PMID:37059927   PMID:37105991   PMID:37132043   PMID:37207277   PMID:37235963   PMID:37249651   PMID:37343697   PMID:37466368   PMID:37795781   PMID:37926509   PMID:38113892  
PMID:38251716   PMID:38255787   PMID:38310540   PMID:38334954   PMID:38411315   PMID:38795684   PMID:39147351   PMID:39218048   PMID:39238192  


Genomics

Comparative Map Data
C3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38196,677,704 - 6,720,650 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl196,677,704 - 6,730,562 (-)EnsemblGRCh38hg38GRCh38
GRCh37196,677,715 - 6,720,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,628,846 - 6,671,662 (-)NCBINCBI36Build 36hg18NCBI36
Build 34196,628,877 - 6,671,660NCBI
Celera196,619,402 - 6,662,926 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef196,440,030 - 6,483,146 (-)NCBIHuRef
CHM1_1196,678,095 - 6,720,521 (-)NCBICHM1_1
T2T-CHM13v2.0196,667,334 - 6,710,056 (-)NCBIT2T-CHM13v2.0
C3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391757,510,967 - 57,535,136 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1757,510,970 - 57,535,136 (-)EnsemblGRCm39 Ensembl
GRCm381757,203,967 - 57,228,136 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1757,203,970 - 57,228,136 (-)EnsemblGRCm38mm10GRCm38
MGSCv371757,343,396 - 57,367,559 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361756,889,309 - 56,913,426 (-)NCBIMGSCv36mm8
Celera1761,551,995 - 61,576,136 (-)NCBICelera
Cytogenetic Map17DNCBI
cM Map1729.72NCBI
C3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr892,174,412 - 2,201,339 (-)NCBIGRCr8
mRatBN7.292,087,437 - 2,114,366 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl92,087,437 - 2,114,429 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx92,515,463 - 2,542,310 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.097,864,836 - 7,891,685 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.096,820,692 - 6,847,542 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.099,721,137 - 9,747,084 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl99,721,105 - 9,747,167 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.098,728,465 - 8,754,412 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera96,407,133 - 6,432,968 (+)NCBICelera
Cytogenetic Map9q11NCBI
C3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554952,796,663 - 2,824,697 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554952,796,601 - 2,824,233 (+)NCBIChiLan1.0ChiLan1.0
C3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22011,089,251 - 11,133,964 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11910,314,594 - 10,360,037 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0195,708,211 - 5,753,178 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1196,629,240 - 6,674,786 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl196,629,287 - 6,674,699 (-)Ensemblpanpan1.1panPan2
C3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12053,566,226 - 53,598,365 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2053,566,261 - 53,598,761 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2053,314,550 - 53,347,112 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02054,220,548 - 54,253,547 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2054,219,154 - 54,438,066 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12053,287,896 - 53,320,436 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,735,894 - 53,768,908 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02053,965,350 - 53,997,908 (+)NCBIUU_Cfam_GSD_1.0
C3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118213,824,886 - 213,849,048 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365883,985,732 - 4,023,221 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl272,431,212 - 72,472,228 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1272,431,470 - 72,471,622 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2272,762,013 - 72,820,437 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.2272,950,572 - 72,957,968 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap2qNCBI
C3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.166,250,422 - 6,289,264 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660811,706,107 - 1,746,127 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
C3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248283,770,221 - 3,797,946 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248283,773,816 - 3,798,077 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C3
1130 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000064.4(C3):c.304C>G (p.Arg102Gly) single nucleotide variant Age related macular degeneration 9 [RCV000395565]|C3S/C3F POLYMORPHISM [RCV000018585]|Focal segmental glomerulosclerosis [RCV002293984]|Inborn genetic diseases [RCV002444434]|MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO [RCV000018584]|not provided [RCV001521403] Chr19:6718376 [GRCh38]
Chr19:6718376..6718377 [GRCh38]
Chr19:6718387 [GRCh37]
Chr19:6718387..6718388 [GRCh37]
Chr19:19p13.3		 risk factor|benign
NM_000064.4(C3):c.941C>T (p.Pro314Leu) single nucleotide variant Age related macular degeneration 9 [RCV000321048]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000286026]|C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE [RCV000018586]|Complement component 3 deficiency [RCV000380392]|Focal segmental glomerulosclerosis [RCV002293985]|Inborn genetic diseases [RCV002371776]|not provided [RCV001515572] Chr19:6713251 [GRCh38]
Chr19:6713262 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2354+1G>A single nucleotide variant C3 deficiency [RCV000018587] Chr19:6702470 [GRCh38]
Chr19:6702481 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del deletion C3 deficiency [RCV000018588] Chr19:6695999..6696810 [GRCh38]
Chr19:6696010..6696821 [GRCh37]
Chr19:19p13.3-p13.2		 pathogenic
NM_000064.4(C3):c.1775G>A (p.Arg592Gln) single nucleotide variant Age related macular degeneration 9 [RCV002496404]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000018589]|C3-related disorder [RCV004751217]|Familial Atypical Hemolytic-Uremic Syndrome [RCV001844014]|not provided [RCV001507917] Chr19:6709754 [GRCh38]
Chr19:6709765 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|risk factor
NM_000064.4(C3):c.3281C>T (p.Ala1094Val) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000018590] Chr19:6693033 [GRCh38]
Chr19:6693044 [GRCh37]
Chr19:19p13.3		 risk factor
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000018591]|not provided [RCV002513105] Chr19:6692971 [GRCh38]
Chr19:6692982 [GRCh37]
Chr19:19p13.3		 risk factor|uncertain significance
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000018592] Chr19:6697673 [GRCh38]
Chr19:6697684 [GRCh37]
Chr19:19p13.3		 risk factor
NM_000064.4(C3):c.4631-2A>G single nucleotide variant C3 deficiency [RCV000018593] Chr19:6678457 [GRCh38]
Chr19:6678468 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.3284T>A (p.Ile1095Asn) single nucleotide variant not provided [RCV001507915] Chr19:6693030 [GRCh38]
Chr19:6693041 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.463A>C (p.Lys155Gln) single nucleotide variant Age related macular degeneration 9 [RCV000765476]|Age related macular degeneration 9 [RCV001130002]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001130001]|C3-related disorder [RCV003915045]|Complement component 3 deficiency [RCV001130000]|MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO [RCV000077796]|not provided [RCV000963525]|not specified [RCV000202831] Chr19:6718135 [GRCh38]
Chr19:6718146 [GRCh37]
Chr19:19p13.3		 risk factor|benign|likely benign|uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
NM_000064.3(C3):c.4585C>T (p.Leu1529=) single nucleotide variant Malignant melanoma [RCV000072435] Chr19:6679170 [GRCh38]
Chr19:6679181 [GRCh37]
Chr19:6630181 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.3(C3):c.4063C>T (p.Gln1355Ter) single nucleotide variant Malignant melanoma [RCV000072436] Chr19:6684617 [GRCh38]
Chr19:6684628 [GRCh37]
Chr19:6635628 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.3(C3):c.536C>T (p.Ser179Phe) single nucleotide variant Malignant melanoma [RCV000072437] Chr19:6714415 [GRCh38]
Chr19:6714426 [GRCh37]
Chr19:6665426 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.3(C3):c.4459G>A (p.Glu1487Lys) single nucleotide variant Malignant melanoma [RCV000063660] Chr19:6679494 [GRCh38]
Chr19:6679505 [GRCh37]
Chr19:6630505 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.3(C3):c.3752C>T (p.Pro1251Leu) single nucleotide variant Malignant melanoma [RCV000063661] Chr19:6686182 [GRCh38]
Chr19:6686193 [GRCh37]
Chr19:6637193 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.3(C3):c.2291G>A (p.Arg764Gln) single nucleotide variant Malignant melanoma [RCV000063662] Chr19:6702534 [GRCh38]
Chr19:6702545 [GRCh37]
Chr19:6653545 [NCBI36]
Chr19:19p13.3		 not provided
NM_000064.4(C3):c.562G>A (p.Val188Ile) single nucleotide variant not provided [RCV001367716] Chr19:6714389 [GRCh38]
Chr19:6714400 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser) single nucleotide variant Age related macular degeneration 9 [RCV002476444]|C3-related disorder [RCV003945990]|not provided [RCV001312779] Chr19:6678419 [GRCh38]
Chr19:6678430 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2441-24C>A single nucleotide variant Age related macular degeneration 9 [RCV001554404]|Complement component 3 deficiency [RCV001554403]|not provided [RCV001638167] Chr19:6697818 [GRCh38]
Chr19:6697829 [GRCh37]
Chr19:19p13.3		 benign
GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 copy number gain See cases [RCV000139338] Chr19:5905175..6916287 [GRCh38]
Chr19:5905186..6916298 [GRCh37]
Chr19:5856186..6867298 [NCBI36]
Chr19:19p13.3-13.2		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.640C>T (p.Pro214Ser) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000184049]|not provided [RCV003727628] Chr19:6714208 [GRCh38]
Chr19:6714219 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000064.4(C3):c.3811-73C>G single nucleotide variant Kidney disorder [RCV002294044]|not provided [RCV000190315] Chr19:6685219 [GRCh38]
Chr19:6685230 [GRCh37]
Chr19:19p13.3		 benign|likely benign|not provided
NM_000064.4(C3):c.1273C>T (p.Arg425Cys) single nucleotide variant Age related macular degeneration 9 [RCV002476054]|Inborn genetic diseases [RCV004023545]|not provided [RCV000520102] Chr19:6711193 [GRCh38]
Chr19:6711204 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4767G>A (p.Lys1589=) single nucleotide variant Age related macular degeneration 9 [RCV000361583]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000266935]|Complement component 3 deficiency [RCV000322076]|not provided [RCV000907622]|not specified [RCV003987510] Chr19:6678235 [GRCh38]
Chr19:6678246 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.4896C>T (p.Pro1632=) single nucleotide variant Age related macular degeneration 9 [RCV000323725]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000378258]|Complement component 3 deficiency [RCV000283840]|not provided [RCV001516630]|not specified [RCV001529090] Chr19:6677978 [GRCh38]
Chr19:6677989 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1692G>A (p.Val564=) single nucleotide variant Age related macular degeneration 9 [RCV000395652]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000358237]|Complement component 3 deficiency [RCV000303712]|not provided [RCV001519273] Chr19:6709837 [GRCh38]
Chr19:6709848 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4631-9C>T single nucleotide variant Age related macular degeneration 9 [RCV000304328]|Atypical hemolytic-uremic syndrome [RCV002294276]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000399157]|Complement component 3 deficiency [RCV000359050]|not provided [RCV000964033] Chr19:6678464 [GRCh38]
Chr19:6678475 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1119+14C>T single nucleotide variant Age related macular degeneration 9 [RCV000269291]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000313893]|Complement component 3 deficiency [RCV000363891]|not provided [RCV002057541] Chr19:6712494 [GRCh38]
Chr19:6712505 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.3753C>A (p.Pro1251=) single nucleotide variant Age related macular degeneration 9 [RCV000379168]|Atypical hemolytic-uremic syndrome [RCV002294278]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000287097]|Complement component 3 deficiency [RCV000326797]|not provided [RCV000972947] Chr19:6686181 [GRCh38]
Chr19:6686192 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4941G>A (p.Gln1647=) single nucleotide variant Age related macular degeneration 9 [RCV000287361]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000381549]|Complement component 3 deficiency [RCV000326976]|not provided [RCV002521254] Chr19:6677933 [GRCh38]
Chr19:6677944 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1758G>A (p.Glu586=) single nucleotide variant Age related macular degeneration 9 [RCV000288369]|Age related macular degeneration 9 [RCV002057539]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000347980]|Complement component 3 deficiency [RCV000395644]|not provided [RCV002057540] Chr19:6709771 [GRCh38]
Chr19:6709782 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2799G>A (p.Pro933=) single nucleotide variant Age related macular degeneration 9 [RCV000290612]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000347863]|Complement component 3 deficiency [RCV000387056]|not provided [RCV001519032] Chr19:6696657 [GRCh38]
Chr19:6696668 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2430G>A (p.Ser810=) single nucleotide variant Age related macular degeneration 9 [RCV000383997]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000274411]|Complement component 3 deficiency [RCV000331724]|not provided [RCV001519270]|not specified [RCV003321584] Chr19:6702137 [GRCh38]
Chr19:6702148 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2421G>C (p.Val807=) single nucleotide variant Age related macular degeneration 9 [RCV000344527]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000291985]|Complement component 3 deficiency [RCV000382623]|not provided [RCV001519271]|not specified [RCV001529067] Chr19:6702146 [GRCh38]
Chr19:6702157 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4030-4C>T single nucleotide variant Age related macular degeneration 9 [RCV000275490]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000367747]|Complement component 3 deficiency [RCV000315441]|not provided [RCV002057534] Chr19:6684654 [GRCh38]
Chr19:6684665 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2048-14_2048-13del microsatellite Atypical hemolytic-uremic syndrome [RCV000295260]|C3 deficiency [RCV000334669]|Macular degeneration [RCV000396795]|not provided [RCV001522900] Chr19:6707286..6707287 [GRCh38]
Chr19:6707297..6707298 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-4G>A single nucleotide variant Age related macular degeneration 9 [RCV000261116]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000389627]|Complement component 3 deficiency [RCV000316465]|not provided [RCV001516631]|not specified [RCV001528544] Chr19:6679500 [GRCh38]
Chr19:6679511 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2246-8C>T single nucleotide variant Age related macular degeneration 9 [RCV000277187]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000297613]|Complement component 3 deficiency [RCV000369463]|not provided [RCV001519272]|not specified [RCV001528595] Chr19:6702587 [GRCh38]
Chr19:6702598 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2700C>G (p.Ile900Met) single nucleotide variant Age related macular degeneration 9 [RCV000262667]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000301471]|Complement component 3 deficiency [RCV000354037]|not provided [RCV002521256] Chr19:6697440 [GRCh38]
Chr19:6697451 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4535G>A (p.Arg1512His) single nucleotide variant Age related macular degeneration 9 [RCV000355975]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000264234]|Complement component 3 deficiency [RCV000300709]|not provided [RCV002523076] Chr19:6679418 [GRCh38]
Chr19:6679429 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1819A>G (p.Lys607Glu) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000317944]|Complement component 3 deficiency [RCV000281611]|not provided [RCV002523077] Chr19:6709710 [GRCh38]
Chr19:6709721 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.3993A>G (p.Thr1331=) single nucleotide variant Age related macular degeneration 9 [RCV000269438]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000328138]|Complement component 3 deficiency [RCV000366481]|not provided [RCV002057535] Chr19:6684811 [GRCh38]
Chr19:6684822 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) single nucleotide variant Age related macular degeneration 9 [RCV000269843]|Atypical hemolytic-uremic syndrome [RCV002294280]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000381202]|Complement component 3 deficiency [RCV000328876]|not provided [RCV002057536]|not specified [RCV001820994] Chr19:6707118 [GRCh38]
Chr19:6707129 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.2907C>T (p.Asp969=) single nucleotide variant Age related macular degeneration 9 [RCV000323045]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000270342]|Complement component 3 deficiency [RCV000362131]|not provided [RCV001442188] Chr19:6696422 [GRCh38]
Chr19:6696433 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) single nucleotide variant Age related macular degeneration 9 [RCV000365239]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000398343]|Complement component 3 deficiency [RCV001029978]|not provided [RCV002057538]|not specified [RCV001820995] Chr19:6707902 [GRCh38]
Chr19:6707913 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.4631-8C>T single nucleotide variant Age related macular degeneration 9 [RCV000343663]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000399993]|Complement component 3 deficiency [RCV000307471]|not provided [RCV001521400] Chr19:6678463 [GRCh38]
Chr19:6678474 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2745T>C (p.Ala915=) single nucleotide variant Age related macular degeneration 9 [RCV000394673]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000342250]|Complement component 3 deficiency [RCV000308367]|not provided [RCV001516633]|not specified [RCV001529342] Chr19:6697395 [GRCh38]
Chr19:6697406 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.783C>T (p.Tyr261=) single nucleotide variant Age related macular degeneration 9 [RCV000308536]|Atypical hemolytic-uremic syndrome [RCV002294285]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000396960]|Complement component 3 deficiency [RCV000352835]|not provided [RCV000962655]|not specified [RCV001795950] Chr19:6713500 [GRCh38]
Chr19:6713511 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2245+15G>A single nucleotide variant Age related macular degeneration 9 [RCV000368309]|Age related macular degeneration 9 [RCV002495041]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000271438]|Complement component 3 deficiency [RCV000311327]|not provided [RCV001523770] Chr19:6707061 [GRCh38]
Chr19:6707072 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.4803C>T (p.His1601=) single nucleotide variant Age related macular degeneration 9 [RCV000365261]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000307062]|Complement component 3 deficiency [RCV000270705]|not provided [RCV002521255]|not specified [RCV001820991] Chr19:6678199 [GRCh38]
Chr19:6678210 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4827C>T (p.Ser1609=) single nucleotide variant Age related macular degeneration 9 [RCV000310546]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000402383]|C3-related disorder [RCV004751475]|Complement component 3 deficiency [RCV000350353]|not provided [RCV002057532] Chr19:6678175 [GRCh38]
Chr19:6678186 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.774-4G>A single nucleotide variant Age related macular degeneration 9 [RCV000309466]|Atypical hemolytic-uremic syndrome [RCV002294286]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000363187]|Complement component 3 deficiency [RCV000273085]|not provided [RCV002057542] Chr19:6713513 [GRCh38]
Chr19:6713524 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) single nucleotide variant Age related macular degeneration 9 [RCV000352497]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000312677]|Complement component 3 deficiency [RCV000402109]|not provided [RCV000788141] Chr19:6707877 [GRCh38]
Chr19:6707888 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro) single nucleotide variant Age related macular degeneration 9 [RCV000311409]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000350872]|Complement component 3 deficiency [RCV000398615]|not provided [RCV001859955] Chr19:6693015 [GRCh38]
Chr19:6693026 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4850+12C>A single nucleotide variant Age related macular degeneration 9 [RCV000334388]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000314182]|Complement component 3 deficiency [RCV000399667] Chr19:6678140 [GRCh38]
Chr19:6678151 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1554C>A (p.Pro518=) single nucleotide variant Age related macular degeneration 9 [RCV000275322]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000329939]|Complement component 3 deficiency [RCV000389103]|not provided [RCV001515571] Chr19:6710771 [GRCh38]
Chr19:6710782 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-5C>T single nucleotide variant Age related macular degeneration 9 [RCV000385956]|Atypical hemolytic-uremic syndrome [RCV002294277]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000276281]|Complement component 3 deficiency [RCV000331376]|not provided [RCV000880912]|not specified [RCV001726123] Chr19:6679501 [GRCh38]
Chr19:6679512 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) single nucleotide variant Age related macular degeneration 9 [RCV000326470]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000990138]|C3-related disorder [RCV003922408]|Complement component 3 deficiency [RCV000276071]|not provided [RCV000964034] Chr19:6711059 [GRCh38]
Chr19:6711070 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.1119+15G>A single nucleotide variant Age related macular degeneration 9 [RCV000277555]|Age related macular degeneration 9 [RCV002502280]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000299557]|Complement component 3 deficiency [RCV000368315]|not provided [RCV001512601] Chr19:6712493 [GRCh38]
Chr19:6712504 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1269+14C>A single nucleotide variant Age related macular degeneration 9 [RCV000397979]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000283256]|Complement component 3 deficiency [RCV000342961] Chr19:6712243 [GRCh38]
Chr19:6712254 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) single nucleotide variant Age related macular degeneration 9 [RCV000279318]|Age related macular degeneration 9 [RCV001281035]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000395497]|C3-related disorder [RCV004751474]|Complement component 3 deficiency [RCV000337839]|not provided [RCV000948468]|not specified [RCV001820990] Chr19:6678019 [GRCh38]
Chr19:6678030 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) single nucleotide variant Age related macular degeneration 9 [RCV000338521]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000279638]|C3-related disorder [RCV003910272]|Complement component 3 deficiency [RCV000396966]|not provided [RCV000788906]|not specified [RCV001727686] Chr19:6686263 [GRCh38]
Chr19:6686263..6686264 [GRCh38]
Chr19:6686274 [GRCh37]
Chr19:6686274..6686275 [GRCh37]
Chr19:19p13.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.-3_-2dup duplication Atypical hemolytic-uremic syndrome [RCV000360987]|C3 deficiency [RCV000402040]|Macular degeneration [RCV000301563]|not provided [RCV003418042]|not specified [RCV001820998] Chr19:6720590..6720591 [GRCh38]
Chr19:6720601..6720602 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2450T>A (p.Val817Glu) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000389867]|C3 deficiency [RCV000261528]|Macular degeneration [RCV000333034] Chr19:6697785 [GRCh38]
Chr19:6697796 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.600-14C>T single nucleotide variant Age related macular degeneration 9 [RCV000375666]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000331622]|Complement component 3 deficiency [RCV000281108]|not provided [RCV001516403] Chr19:6714262 [GRCh38]
Chr19:6714273 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.912G>A (p.Arg304=) single nucleotide variant Age related macular degeneration 9 [RCV000281695]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000372395]|Complement component 3 deficiency [RCV000336385]|not provided [RCV001521402] Chr19:6713280 [GRCh38]
Chr19:6713291 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3687C>T (p.Asn1229=) single nucleotide variant Age related macular degeneration 9 [RCV000320851]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000281154]|C3-related disorder [RCV003950132]|Complement component 3 deficiency [RCV000377842]|not provided [RCV001475689] Chr19:6686247 [GRCh38]
Chr19:6686258 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2067G>A (p.Glu689=) single nucleotide variant Age related macular degeneration 9 [RCV000374090]|Atypical hemolytic-uremic syndrome [RCV002294281]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000321888]|Complement component 3 deficiency [RCV000281882]|not provided [RCV000958441] Chr19:6707254 [GRCh38]
Chr19:6707265 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2863+7C>T single nucleotide variant Age related macular degeneration 9 [RCV000317538]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000374021]|Complement component 3 deficiency [RCV000281934]|not provided [RCV001516632]|not specified [RCV001529674] Chr19:6696586 [GRCh38]
Chr19:6696597 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2184C>T (p.Cys728=) single nucleotide variant Age related macular degeneration 9 [RCV000283170]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000323108]|Complement component 3 deficiency [RCV000380028]|not provided [RCV002057537] Chr19:6707137 [GRCh38]
Chr19:6707148 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.3216G>T (p.Arg1072=) single nucleotide variant Age related macular degeneration 9 [RCV000368356]|Atypical hemolytic-uremic syndrome [RCV002294279]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000402412]|Complement component 3 deficiency [RCV000310308]|not provided [RCV000891303]|not specified [RCV001701855] Chr19:6693426 [GRCh38]
Chr19:6693437 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.4311C>T (p.Ala1437=) single nucleotide variant Age related macular degeneration 9 [RCV000288335]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000397782]|Complement component 3 deficiency [RCV000343346]|not provided [RCV001515570] Chr19:6681980 [GRCh38]
Chr19:6681991 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) single nucleotide variant Age related macular degeneration 9 [RCV000377214]|Atypical hemolytic-uremic syndrome [RCV002294284]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000345960]|Complement component 3 deficiency [RCV000291028]|not provided [RCV002521257] Chr19:6711163 [GRCh38]
Chr19:6711174 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala) single nucleotide variant Age related macular degeneration 9 [RCV000346899]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000291733]|Complement component 3 deficiency [RCV000382806]|not provided [RCV001507912] Chr19:6681972 [GRCh38]
Chr19:6681983 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) single nucleotide variant Age related macular degeneration 9 [RCV000347613]|Age related macular degeneration 9 [RCV002502277]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000292717]|Complement component 3 deficiency [RCV000387018]|not provided [RCV000915890] Chr19:6678451 [GRCh38]
Chr19:6678462 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.588G>A (p.Pro196=) single nucleotide variant Age related macular degeneration 9 [RCV000294782]|Atypical hemolytic-uremic syndrome [RCV002294288]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000386072]|Complement component 3 deficiency [RCV000345078]|not provided [RCV000953080]|not specified [RCV001820997] Chr19:6714363 [GRCh38]
Chr19:6714374 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) single nucleotide variant Age related macular degeneration 9 [RCV000296014]|Age related macular degeneration 9 [RCV002504113]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000351093]|Complement component 3 deficiency [RCV000371740]|not provided [RCV000898770] Chr19:6678441 [GRCh38]
Chr19:6678452 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2857G>A (p.Gly953Ser) single nucleotide variant Age related macular degeneration 9 [RCV000388327]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000296478]|Complement component 3 deficiency [RCV000349100] Chr19:6696599 [GRCh38]
Chr19:6696610 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1767C>T (p.His589=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000386416]|C3 deficiency [RCV000351605]|Macular degeneration [RCV000296792]|not provided [RCV000928120] Chr19:6709762 [GRCh38]
Chr19:6709773 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1623C>T (p.Ser541=) single nucleotide variant Age related macular degeneration 9 [RCV000260020]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000319922]|Complement component 3 deficiency [RCV000355914]|Kidney disorder [RCV002294283]|not provided [RCV000903158] Chr19:6710702 [GRCh38]
Chr19:6710713 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.681C>T (p.Tyr227=) single nucleotide variant Age related macular degeneration 9 [RCV000360459]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000316235]|Complement component 3 deficiency [RCV000260974]|not provided [RCV001319506] Chr19:6714167 [GRCh38]
Chr19:6714178 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4095C>G (p.Val1365=) single nucleotide variant Age related macular degeneration 9 [RCV000298012]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000352926]|Complement component 3 deficiency [RCV000393921]|not provided [RCV002057533] Chr19:6684585 [GRCh38]
Chr19:6684596 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1164C>T (p.Pro388=) single nucleotide variant Age related macular degeneration 9 [RCV000298553]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000334622]|Complement component 3 deficiency [RCV000400576] Chr19:6712362 [GRCh38]
Chr19:6712373 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) single nucleotide variant Age related macular degeneration 9 [RCV000376726]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000261966]|Complement component 3 deficiency [RCV000317155]|not provided [RCV002523075] Chr19:6678243 [GRCh38]
Chr19:6678254 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.-28C>G single nucleotide variant Age related macular degeneration 9 [RCV000353431]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000298479]|Complement component 3 deficiency [RCV000263307] Chr19:6720617 [GRCh38]
Chr19:6720628 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.741C>T (p.Asn247=) single nucleotide variant Age related macular degeneration 9 [RCV000359581]|Atypical hemolytic-uremic syndrome [RCV002294287]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000264988]|C3-related disorder [RCV003957697]|Complement component 3 deficiency [RCV000324484]|not provided [RCV001523349]|not specified [RCV001702426] Chr19:6714024 [GRCh38]
Chr19:6714035 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2901C>T (p.Leu967=) single nucleotide variant Age related macular degeneration 9 [RCV000321805]|Age related macular degeneration 9 [RCV002502278]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000361389]|Complement component 3 deficiency [RCV000264315]|not provided [RCV000885899]|not specified [RCV001820992] Chr19:6696428 [GRCh38]
Chr19:6696439 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1042A>G (p.Ile348Val) single nucleotide variant Age related macular degeneration 9 [RCV000329218]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000383819]|Complement component 3 deficiency [RCV000266004]|not provided [RCV001507918] Chr19:6712585 [GRCh38]
Chr19:6712596 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.1836G>A (p.Thr612=) single nucleotide variant Age related macular degeneration 9 [RCV000318975]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000266157]|Complement component 3 deficiency [RCV000358505]|not provided [RCV001521401] Chr19:6709693 [GRCh38]
Chr19:6709704 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2715C>T (p.Thr905=) single nucleotide variant Age related macular degeneration 9 [RCV000359714]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000302492]|Complement component 3 deficiency [RCV000390479]|not provided [RCV001516634] Chr19:6697425 [GRCh38]
Chr19:6697436 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2394C>T (p.Ser798=) single nucleotide variant Age related macular degeneration 9 [RCV000337428]|Age related macular degeneration 9 [RCV002502279]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000303544]|Complement component 3 deficiency [RCV000400746]|not provided [RCV000957850]|not specified [RCV001820993] Chr19:6702173 [GRCh38]
Chr19:6702184 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1855G>A (p.Val619Met) single nucleotide variant Age related macular degeneration 9 [RCV000324678]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000267223]|Complement component 3 deficiency [RCV000364011]|Kidney disorder [RCV002294282]|not provided [RCV001859956] Chr19:6707920 [GRCh38]
Chr19:6707931 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.1653G>T (p.Val551=) single nucleotide variant Age related macular degeneration 9 [RCV000390353]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000354620]|Complement component 3 deficiency [RCV000304512]|not provided [RCV000962608]|not specified [RCV001820996] Chr19:6710672 [GRCh38]
Chr19:6710683 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.75-1G>A single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003320432] Chr19:6719404 [GRCh38]
Chr19:6719415 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1686+22T>G single nucleotide variant not specified [RCV003320294] Chr19:6710617 [GRCh38]
Chr19:6710628 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3643A>C (p.Lys1215Gln) single nucleotide variant not provided [RCV002292976] Chr19:6686749 [GRCh38]
Chr19:6686760 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.443G>A (p.Arg148Gln) single nucleotide variant Age related macular degeneration 9 [RCV000346017]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000395575]|Complement component 3 deficiency [RCV000291131]|not provided [RCV001507922] Chr19:6718155 [GRCh38]
Chr19:6718166 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4120+8G>T single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000400915]|C3 deficiency [RCV000284971]|Macular degeneration [RCV000340071] Chr19:6684552 [GRCh38]
Chr19:6684563 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2403G>A (p.Thr801=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000397726]|C3 deficiency [RCV000285915]|Macular degeneration [RCV000343237] Chr19:6702164 [GRCh38]
Chr19:6702175 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.819C>T (p.Phe273=) single nucleotide variant Age related macular degeneration 9 [RCV000310960]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000396953]|Complement component 3 deficiency [RCV000336702] Chr19:6713464 [GRCh38]
Chr19:6713475 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.769G>A (p.Ala257Thr) single nucleotide variant Age related macular degeneration 9 [RCV002485950]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000735714]|not provided [RCV001869010] Chr19:6713996 [GRCh38]
Chr19:6714007 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.169_170del (p.Val57fs) deletion Complement component 3 deficiency [RCV000735715] Chr19:6719308..6719309 [GRCh38]
Chr19:6719319..6719320 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.2861G>A (p.Arg954His) single nucleotide variant Age related macular degeneration 9 [RCV001136341]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136339]|C3-related disorder [RCV003418134]|Complement component 3 deficiency [RCV001136338]|not provided [RCV000442662] Chr19:6696595 [GRCh38]
Chr19:6696606 [GRCh37]
Chr19:19p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.193A>C (p.Lys65Gln) single nucleotide variant Age related macular degeneration 9 [RCV003147457]|Atypical hemolytic-uremic syndrome [RCV001328274]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003147456]|Complement component 3 deficiency [RCV003138002]|not provided [RCV000427027]|not specified [RCV003320186] Chr19:6719285 [GRCh38]
Chr19:6719296 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.1829A>C (p.Lys610Thr) single nucleotide variant not provided [RCV000422311] Chr19:6709700 [GRCh38]
Chr19:6709711 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2104C>T (p.Pro702Ser) single nucleotide variant not provided [RCV000425762] Chr19:6707217 [GRCh38]
Chr19:6707228 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2246-9_2246-8delinsAT indel not provided [RCV003660807]|not specified [RCV000480021] Chr19:6702587..6702588 [GRCh38]
Chr19:6702598..6702599 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3859C>T (p.Pro1287Ser) single nucleotide variant not provided [RCV000493644] Chr19:6685098 [GRCh38]
Chr19:6685109 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_000064.4(C3):c.1700G>C (p.Ser567Thr) single nucleotide variant Inborn genetic diseases [RCV003261050] Chr19:6709829 [GRCh38]
Chr19:6709840 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3908G>A (p.Arg1303His) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV000625544] Chr19:6685049 [GRCh38]
Chr19:6685060 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1921G>A (p.Asp641Asn) single nucleotide variant Familial hemolytic anemia [RCV000655926] Chr19:6707854 [GRCh38]
Chr19:6707865 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000064.4(C3):c.2951-5_2951-3del microsatellite Age related macular degeneration 9 [RCV000767911]|not provided [RCV000902612] Chr19:6694637..6694639 [GRCh38]
Chr19:6694648..6694650 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000064.4(C3):c.3085G>A (p.Asp1029Asn) single nucleotide variant Mesangiocapillary glomerulonephritis [RCV001003785] Chr19:6694500 [GRCh38]
Chr19:6694511 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1003+25C>G single nucleotide variant not provided [RCV001530841] Chr19:6713164 [GRCh38]
Chr19:6713164..6713165 [GRCh38]
Chr19:6713175 [GRCh37]
Chr19:6713175..6713176 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_000064.4(C3):c.3155-138T>C single nucleotide variant not provided [RCV001645689] Chr19:6693625 [GRCh38]
Chr19:6693636 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.504+243_504+255del microsatellite not provided [RCV001665894] Chr19:6717839..6717851 [GRCh38]
Chr19:6717850..6717862 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.504+27A>C single nucleotide variant not provided [RCV001678869] Chr19:6718067 [GRCh38]
Chr19:6718078 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1908C>T (p.Ala636=) single nucleotide variant not provided [RCV001700673] Chr19:6707867 [GRCh38]
Chr19:6707878 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3369C>T (p.Pro1123=) single nucleotide variant not provided [RCV000940639] Chr19:6692945 [GRCh38]
Chr19:6692956 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2190C>T (p.Tyr730=) single nucleotide variant Age related macular degeneration 9 [RCV002495425]|not provided [RCV000896554] Chr19:6707131 [GRCh38]
Chr19:6707142 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4457-56A>G single nucleotide variant Age related macular degeneration 9 [RCV001554742]|Complement component 3 deficiency [RCV001554741]|not provided [RCV001694120] Chr19:6679552 [GRCh38]
Chr19:6679563 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3646+98A>G single nucleotide variant Age related macular degeneration 9 [RCV001554744]|Complement component 3 deficiency [RCV001554743]|not provided [RCV001615330] Chr19:6686648 [GRCh38]
Chr19:6686659 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-165C>T single nucleotide variant not provided [RCV001648707] Chr19:6696824 [GRCh38]
Chr19:6696835 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+267_2796+268insA insertion not provided [RCV001535050] Chr19:6697076..6697077 [GRCh38]
Chr19:6697087..6697088 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3154+195T>C single nucleotide variant not provided [RCV001535316] Chr19:6694236 [GRCh38]
Chr19:6694247 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3490-229C>T single nucleotide variant not provided [RCV001693063] Chr19:6687131 [GRCh38]
Chr19:6687142 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.74+114G>T single nucleotide variant not provided [RCV001612880] Chr19:6720402 [GRCh38]
Chr19:6720413 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1270-287G>A single nucleotide variant not provided [RCV001693108] Chr19:6711483 [GRCh38]
Chr19:6711494 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2440+96T>C single nucleotide variant Age related macular degeneration 9 [RCV001554408]|Complement component 3 deficiency [RCV001554407]|not provided [RCV001638168] Chr19:6702031 [GRCh38]
Chr19:6702042 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4172+202C>T single nucleotide variant not provided [RCV001692528] Chr19:6684186 [GRCh38]
Chr19:6684197 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3391-228G>A single nucleotide variant not provided [RCV001612882] Chr19:6690955 [GRCh38]
Chr19:6690966 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1480-4C>A single nucleotide variant Age related macular degeneration 9 [RCV001134785]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001134786]|Complement component 3 deficiency [RCV001134787]|not provided [RCV002070573] Chr19:6710849 [GRCh38]
Chr19:6710860 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.1470C>T (p.Tyr490=) single nucleotide variant Age related macular degeneration 9 [RCV001134788]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001134790]|Complement component 3 deficiency [RCV001134789]|not provided [RCV002070574] Chr19:6710996 [GRCh38]
Chr19:6711007 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2685C>T (p.Ser895=) single nucleotide variant Age related macular degeneration 9 [RCV002502674]|not provided [RCV000902613] Chr19:6697455 [GRCh38]
Chr19:6697466 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.3958C>A (p.Arg1320=) single nucleotide variant Age related macular degeneration 9 [RCV002502640]|C3-related disorder [RCV003950519]|not provided [RCV000898771] Chr19:6684999 [GRCh38]
Chr19:6685010 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.1452G>A (p.Glu484=) single nucleotide variant Age related macular degeneration 9 [RCV002502646]|not provided [RCV000899656] Chr19:6711014 [GRCh38]
Chr19:6711025 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4631-6C>T single nucleotide variant Age related macular degeneration 9 [RCV002479031]|not provided [RCV000899875] Chr19:6678461 [GRCh38]
Chr19:6678472 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1161C>T (p.Val387=) single nucleotide variant not provided [RCV000902120] Chr19:6712365 [GRCh38]
Chr19:6712376 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.768C>T (p.Thr256=) single nucleotide variant not provided [RCV000983107] Chr19:6713997 [GRCh38]
Chr19:6714008 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1344C>T (p.Thr448=) single nucleotide variant Age related macular degeneration 9 [RCV002503030]|C3-related disorder [RCV003916184]|not provided [RCV000965416]|not specified [RCV004526052] Chr19:6711122 [GRCh38]
Chr19:6711133 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.3546C>T (p.Asn1182=) single nucleotide variant Age related macular degeneration 9 [RCV002495551]|C3-related disorder [RCV003960434]|not provided [RCV000924930] Chr19:6686846 [GRCh38]
Chr19:6686857 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4850+3G>A single nucleotide variant not provided [RCV000901313] Chr19:6678149 [GRCh38]
Chr19:6678160 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2493C>T (p.Ile831=) single nucleotide variant not provided [RCV000981181] Chr19:6697742 [GRCh38]
Chr19:6697753 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2922C>T (p.Thr974=) single nucleotide variant not provided [RCV000901786] Chr19:6696407 [GRCh38]
Chr19:6696418 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2157G>A (p.Ala719=) single nucleotide variant Age related macular degeneration 9 [RCV001132291]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132292]|Complement component 3 deficiency [RCV001132293]|not provided [RCV000896462]|not specified [RCV004702509] Chr19:6707164 [GRCh38]
Chr19:6707175 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2925G>A (p.Glu975=) single nucleotide variant not provided [RCV000917867] Chr19:6696404 [GRCh38]
Chr19:6696415 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1491G>A (p.Lys497=) single nucleotide variant Age related macular degeneration 9 [RCV002502670]|not provided [RCV000902441] Chr19:6710834 [GRCh38]
Chr19:6710845 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001029995] Chr19:6697704 [GRCh38]
Chr19:6697715 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1876G>C (p.Gly626Arg) single nucleotide variant not provided [RCV000996722] Chr19:6707899 [GRCh38]
Chr19:6707910 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2951-10C>T single nucleotide variant not provided [RCV000914752] Chr19:6694644 [GRCh38]
Chr19:6694655 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) single nucleotide variant not provided [RCV000788905]|not specified [RCV001816838] Chr19:6684580 [GRCh38]
Chr19:6684591 [GRCh37]
Chr19:19p13.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000064.4(C3):c.1433G>T (p.Arg478Leu) single nucleotide variant Age related macular degeneration 9 [RCV002507351]|not provided [RCV000782235] Chr19:6711033 [GRCh38]
Chr19:6711044 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4353C>G (p.Val1451=) single nucleotide variant Age related macular degeneration 9 [RCV001129024]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129025]|Complement component 3 deficiency [RCV001135995]|not provided [RCV002070503] Chr19:6680261 [GRCh38]
Chr19:6680272 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3 copy number gain not provided [RCV001007029] Chr19:6246138..6823741 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3391-4T>C single nucleotide variant Age related macular degeneration 9 [RCV001136208]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136210]|Complement component 3 deficiency [RCV001136209]|not provided [RCV001515233] Chr19:6690731 [GRCh38]
Chr19:6690742 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn) single nucleotide variant Age related macular degeneration 9 [RCV001131707]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001131705]|Complement component 3 deficiency [RCV001131706]|not provided [RCV000782234] Chr19:6684412 [GRCh38]
Chr19:6684423 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.2670C>G (p.Pro890=) single nucleotide variant Age related macular degeneration 9 [RCV001133004]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133006]|C3-related disorder [RCV003945849]|Complement component 3 deficiency [RCV001133005]|not provided [RCV002070553] Chr19:6697470 [GRCh38]
Chr19:6697481 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.927C>T (p.Asp309=) single nucleotide variant not provided [RCV000898380] Chr19:6713265 [GRCh38]
Chr19:6713276 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg) single nucleotide variant Age related macular degeneration 9 [RCV002507359]|not provided [RCV000788358] Chr19:6686799 [GRCh38]
Chr19:6686810 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4121-4C>T single nucleotide variant Age related macular degeneration 9 [RCV001132716]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001131709]|Complement component 3 deficiency [RCV001131708] Chr19:6684443 [GRCh38]
Chr19:6684454 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2646C>T (p.His882=) single nucleotide variant Age related macular degeneration 9 [RCV001136440]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133007]|Complement component 3 deficiency [RCV001136441] Chr19:6697494 [GRCh38]
Chr19:6697505 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.26T>C (p.Leu9Pro) single nucleotide variant Age related macular degeneration 9 [RCV001133673]|Atypical hemolytic-uremic syndrome [RCV002294438]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133672]|Complement component 3 deficiency [RCV001133674]|not provided [RCV001092937] Chr19:6720564 [GRCh38]
Chr19:6720575 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.-44C>T single nucleotide variant Age related macular degeneration 9 [RCV001135170]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001135169]|Complement component 3 deficiency [RCV001133675] Chr19:6720633 [GRCh38]
Chr19:6720644 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.835G>A (p.Glu279Lys) single nucleotide variant Age related macular degeneration 9 [RCV001129882]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001130593]|Complement component 3 deficiency [RCV001129883]|not provided [RCV001856689] Chr19:6713448 [GRCh38]
Chr19:6713459 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.1296G>A (p.Ser432=) single nucleotide variant Age related macular degeneration 9 [RCV001129801]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132498]|Complement component 3 deficiency [RCV001129800]|not provided [RCV001455856] Chr19:6711170 [GRCh38]
Chr19:6711181 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1835C>T (p.Thr612Met) single nucleotide variant Age related macular degeneration 9 [RCV002479195]|Premature ovarian failure [RCV001002731]|not provided [RCV003117682] Chr19:6709694 [GRCh38]
Chr19:6709705 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3617T>C (p.Leu1206Pro) single nucleotide variant not provided [RCV003480291] Chr19:6686775 [GRCh38]
Chr19:6686786 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.758T>C (p.Val253Ala) single nucleotide variant Inborn genetic diseases [RCV003248728] Chr19:6714007 [GRCh38]
Chr19:6714018 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1523G>A (p.Arg508Gln) single nucleotide variant Inborn genetic diseases [RCV003248666] Chr19:6710802 [GRCh38]
Chr19:6710813 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser) single nucleotide variant Age related macular degeneration 9 [RCV001132820]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132818]|Complement component 3 deficiency [RCV001132819]|not provided [RCV003718349] Chr19:6690711 [GRCh38]
Chr19:6690722 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2390A>C (p.Asp797Ala) single nucleotide variant Age related macular degeneration 9 [RCV001133111]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133112]|Complement component 3 deficiency [RCV001133110] Chr19:6702177 [GRCh38]
Chr19:6702188 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) single nucleotide variant Age related macular degeneration 9 [RCV001136123]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136125]|Complement component 3 deficiency [RCV001136124]|not provided [RCV001873534] Chr19:6685004 [GRCh38]
Chr19:6685015 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1508C>T (p.Ala503Val) single nucleotide variant Age related macular degeneration 9 [RCV001133315]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001134784]|Complement component 3 deficiency [RCV001134783]|not provided [RCV003117778] Chr19:6710817 [GRCh38]
Chr19:6710828 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.2440+116C>G single nucleotide variant Age related macular degeneration 9 [RCV001554406]|Complement component 3 deficiency [RCV001554405]|not provided [RCV001673206] Chr19:6702011 [GRCh38]
Chr19:6702022 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1686+48TC[8] microsatellite Age related macular degeneration 9 [RCV001554509]|Complement component 3 deficiency [RCV001554508]|not provided [RCV001595110] Chr19:6710574..6710575 [GRCh38]
Chr19:6710585..6710586 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4180G>A (p.Gly1394Arg) single nucleotide variant not provided [RCV003106552] Chr19:6682222 [GRCh38]
Chr19:6682233 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3647-206G>A single nucleotide variant not provided [RCV001641588] Chr19:6686493 [GRCh38]
Chr19:6686504 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3810+190G>A single nucleotide variant not provided [RCV001637183] Chr19:6685934 [GRCh38]
Chr19:6685945 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2441-234TAA[9] microsatellite not provided [RCV001671352] Chr19:6697990..6698001 [GRCh38]
Chr19:6698001..6698012 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3811-147C>G single nucleotide variant not provided [RCV001671417] Chr19:6685293 [GRCh38]
Chr19:6685304 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.75-256del deletion not provided [RCV001681253] Chr19:6719659 [GRCh38]
Chr19:6719670 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1687-292C>G single nucleotide variant not provided [RCV001693769] Chr19:6710134 [GRCh38]
Chr19:6710145 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+267T>A single nucleotide variant not provided [RCV001641784] Chr19:6697077 [GRCh38]
Chr19:6697088 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1081C>T (p.Pro361Ser) single nucleotide variant not provided [RCV001589832] Chr19:6712546 [GRCh38]
Chr19:6712557 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1686+198_1686+219del deletion not provided [RCV001676141] Chr19:6710420..6710441 [GRCh38]
Chr19:6710431..6710452 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1686+78C>T single nucleotide variant Age related macular degeneration 9 [RCV001554507]|Complement component 3 deficiency [RCV001554506]|not provided [RCV001709741] Chr19:6710561 [GRCh38]
Chr19:6710572 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.504+63G>A single nucleotide variant not provided [RCV001670051] Chr19:6718031 [GRCh38]
Chr19:6718042 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+287G>A single nucleotide variant not provided [RCV001676634] Chr19:6697057 [GRCh38]
Chr19:6697068 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3231-146C>T single nucleotide variant not provided [RCV001714186] Chr19:6693229 [GRCh38]
Chr19:6693240 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3490-219C>T single nucleotide variant not provided [RCV001686100] Chr19:6687121 [GRCh38]
Chr19:6687132 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+287G>T single nucleotide variant not provided [RCV001617509] Chr19:6697057 [GRCh38]
Chr19:6697068 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.600-12C>T single nucleotide variant not provided [RCV001702265] Chr19:6714260 [GRCh38]
Chr19:6714271 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1119+10G>A single nucleotide variant Age related macular degeneration 9 [RCV001133418]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133417]|Complement component 3 deficiency [RCV001133419]|not provided [RCV000930261] Chr19:6712498 [GRCh38]
Chr19:6712509 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4645C>T (p.Leu1549=) single nucleotide variant Age related macular degeneration 9 [RCV001128909]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001128908]|Complement component 3 deficiency [RCV001128907]|not provided [RCV000907738] Chr19:6678441 [GRCh38]
Chr19:6678452 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.3855C>T (p.Asp1285=) single nucleotide variant Age related macular degeneration 9 [RCV002495567]|not provided [RCV000927581] Chr19:6685102 [GRCh38]
Chr19:6685113 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4878T>C (p.Thr1626=) single nucleotide variant Age related macular degeneration 9 [RCV001131458]|Age related macular degeneration 9 [RCV002503087]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001131457]|C3-related disorder [RCV003936147]|Complement component 3 deficiency [RCV001131459]|Kidney disorder [RCV002294427]|not provided [RCV000972332]|not specified [RCV001819123] Chr19:6677996 [GRCh38]
Chr19:6678007 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2583+9C>T single nucleotide variant Age related macular degeneration 9 [RCV001129458]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129457]|Complement component 3 deficiency [RCV001129456]|not provided [RCV000892309] Chr19:6697643 [GRCh38]
Chr19:6697654 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.2994A>G (p.Glu998=) single nucleotide variant not provided [RCV000921358] Chr19:6694591 [GRCh38]
Chr19:6694602 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3702C>T (p.Ser1234=) single nucleotide variant Age related macular degeneration 9 [RCV002487992]|not provided [RCV000917754] Chr19:6686232 [GRCh38]
Chr19:6686243 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3970-8C>T single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294398]|not provided [RCV000887117]|not specified [RCV003151179] Chr19:6684842 [GRCh38]
Chr19:6684853 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2797-5C>T single nucleotide variant Age related macular degeneration 9 [RCV001129346]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129348]|Complement component 3 deficiency [RCV001129347]|not provided [RCV002070507] Chr19:6696664 [GRCh38]
Chr19:6696675 [GRCh37]
Chr19:19p13.3		 benign|likely benign|uncertain significance
NM_000064.4(C3):c.4257G>A (p.Lys1419=) single nucleotide variant Age related macular degeneration 9 [RCV001131703]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001131704]|Complement component 3 deficiency [RCV001131702]|not provided [RCV002070540] Chr19:6682145 [GRCh38]
Chr19:6682156 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.763A>G (p.Ile255Val) single nucleotide variant Age related macular degeneration 9 [RCV001133541]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001133542]|Complement component 3 deficiency [RCV001133543]|not provided [RCV001856720] Chr19:6714002 [GRCh38]
Chr19:6714013 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.3970-15C>G single nucleotide variant Age related macular degeneration 9 [RCV001136122]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136120]|Complement component 3 deficiency [RCV001136121] Chr19:6684849 [GRCh38]
Chr19:6684860 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4845G>A (p.Lys1615=) single nucleotide variant not provided [RCV000913094] Chr19:6678157 [GRCh38]
Chr19:6678168 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1449C>T (p.His483=) single nucleotide variant Age related macular degeneration 9 [RCV002489246]|not provided [RCV000933591] Chr19:6711017 [GRCh38]
Chr19:6711028 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+9G>A single nucleotide variant Kidney disorder [RCV002294423]|not provided [RCV000957851] Chr19:6702462 [GRCh38]
Chr19:6702473 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4824C>T (p.Ser1608=) single nucleotide variant Age related macular degeneration 9 [RCV001134438]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001134437]|C3-related disorder [RCV004751827]|Complement component 3 deficiency [RCV001134439]|not provided [RCV000935897]|not specified [RCV004689934] Chr19:6678178 [GRCh38]
Chr19:6678189 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.3288C>T (p.Asp1096=) single nucleotide variant not provided [RCV000935078] Chr19:6693026 [GRCh38]
Chr19:6693037 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4369G>C (p.Asp1457His) single nucleotide variant not provided [RCV000913108]|not specified [RCV003489966] Chr19:6680245 [GRCh38]
Chr19:6680256 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3018C>T (p.Thr1006=) single nucleotide variant Age related macular degeneration 9 [RCV002495507]|not provided [RCV000912038] Chr19:6694567 [GRCh38]
Chr19:6694578 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3489+179C>T single nucleotide variant not provided [RCV001656717] Chr19:6690450 [GRCh38]
Chr19:6690461 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-29C>T single nucleotide variant Age related macular degeneration 9 [RCV001554402]|Complement component 3 deficiency [RCV001554401]|not provided [RCV001694108] Chr19:6696688 [GRCh38]
Chr19:6696699 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2863+47G>C single nucleotide variant Age related macular degeneration 9 [RCV001554750]|Complement component 3 deficiency [RCV001554749]|not provided [RCV001638173] Chr19:6696546 [GRCh38]
Chr19:6696557 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-71C>T single nucleotide variant not provided [RCV001721716] Chr19:6679567 [GRCh38]
Chr19:6679578 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.*94C>T single nucleotide variant not provided [RCV001688981] Chr19:6677788 [GRCh38]
Chr19:6677799 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.504+171A>G single nucleotide variant not provided [RCV001682059] Chr19:6717923 [GRCh38]
Chr19:6717934 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.322G>A (p.Val108Met) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001029992] Chr19:6718358 [GRCh38]
Chr19:6718369 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3155-185T>C single nucleotide variant not provided [RCV001651401] Chr19:6693672 [GRCh38]
Chr19:6693683 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3231-69C>T single nucleotide variant not provided [RCV001675505] Chr19:6693152 [GRCh38]
Chr19:6693163 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1846-191_1846-188del microsatellite not provided [RCV001538641] Chr19:6708117..6708120 [GRCh38]
Chr19:6708128..6708131 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+261G>A single nucleotide variant not provided [RCV001597430] Chr19:6697083 [GRCh38]
Chr19:6697094 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3230+150C>T single nucleotide variant not provided [RCV001655040] Chr19:6693262 [GRCh38]
Chr19:6693273 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3390+145T>A single nucleotide variant not provided [RCV001687674] Chr19:6692779 [GRCh38]
Chr19:6692790 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.75-244G>C single nucleotide variant not provided [RCV001674784] Chr19:6719647 [GRCh38]
Chr19:6719658 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2583+41G>C single nucleotide variant not provided [RCV001659594] Chr19:6697611 [GRCh38]
Chr19:6697622 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3230+106C>T single nucleotide variant not provided [RCV001689174] Chr19:6693306 [GRCh38]
Chr19:6693317 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3489+180G>C single nucleotide variant not provided [RCV001637391] Chr19:6690449 [GRCh38]
Chr19:6690460 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3391-67A>G single nucleotide variant not provided [RCV001675157] Chr19:6690794 [GRCh38]
Chr19:6690805 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3489+27A>C single nucleotide variant not provided [RCV001596194] Chr19:6690602 [GRCh38]
Chr19:6690613 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+279A>T single nucleotide variant not provided [RCV001616824] Chr19:6697065 [GRCh38]
Chr19:6697076 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+267_2796+268insATTTA insertion not provided [RCV001714753] Chr19:6697076..6697077 [GRCh38]
Chr19:6697087..6697088 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1845+220GTTT[5] microsatellite not provided [RCV001661216] Chr19:6709448..6709449 [GRCh38]
Chr19:6709459..6709460 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4172+257T>C single nucleotide variant not provided [RCV001620523] Chr19:6684131 [GRCh38]
Chr19:6684142 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2950+169del deletion not provided [RCV001673519] Chr19:6696210 [GRCh38]
Chr19:6696221 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-96G>T single nucleotide variant not provided [RCV001721824] Chr19:6679592 [GRCh38]
Chr19:6679603 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.267+294T>C single nucleotide variant not provided [RCV001686904] Chr19:6718917 [GRCh38]
Chr19:6718928 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-21C>A single nucleotide variant Age related macular degeneration 9 [RCV001554400]|Complement component 3 deficiency [RCV001554399]|not provided [RCV001655897] Chr19:6696680 [GRCh38]
Chr19:6696691 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2355-23A>G single nucleotide variant Age related macular degeneration 9 [RCV001554505]|Complement component 3 deficiency [RCV001554504]|not provided [RCV001673209] Chr19:6702235 [GRCh38]
Chr19:6702246 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3810+152C>G single nucleotide variant not provided [RCV001676213] Chr19:6685972 [GRCh38]
Chr19:6685983 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2441-234TAA[10] microsatellite not provided [RCV001717937] Chr19:6697990..6697998 [GRCh38]
Chr19:6698001..6698009 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+205T>G single nucleotide variant not provided [RCV001676968] Chr19:6697139 [GRCh38]
Chr19:6697150 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3390+139C>G single nucleotide variant not provided [RCV001687381] Chr19:6692785 [GRCh38]
Chr19:6692796 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3391-6T>C single nucleotide variant Age related macular degeneration 9 [RCV001136212]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136211]|Complement component 3 deficiency [RCV001136213]|not provided [RCV001515234] Chr19:6690733 [GRCh38]
Chr19:6690744 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3024G>A (p.Ser1008=) single nucleotide variant Age related macular degeneration 9 [RCV001131950]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129252]|Complement component 3 deficiency [RCV001131951]|not provided [RCV003660853] Chr19:6694561 [GRCh38]
Chr19:6694572 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.453C>T (p.Thr151=) single nucleotide variant Age related macular degeneration 9 [RCV001130004]|Age related macular degeneration 9 [RCV002482254]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001130005]|Complement component 3 deficiency [RCV001130003] Chr19:6718145 [GRCh38]
Chr19:6718156 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.268-111A>G single nucleotide variant not provided [RCV001694369] Chr19:6718523 [GRCh38]
Chr19:6718534 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3490-235T>G single nucleotide variant not provided [RCV001611568] Chr19:6687137 [GRCh38]
Chr19:6687148 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3391-33G>A single nucleotide variant not provided [RCV001615848] Chr19:6690760 [GRCh38]
Chr19:6690771 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-124A>G single nucleotide variant not provided [RCV001693217] Chr19:6696783 [GRCh38]
Chr19:6696794 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4350+281T>G single nucleotide variant not provided [RCV001671432] Chr19:6681660 [GRCh38]
Chr19:6681671 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1663G>A (p.Val555Ile) single nucleotide variant not provided [RCV001171937] Chr19:6710662 [GRCh38]
Chr19:6710673 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1269+310T>C single nucleotide variant not provided [RCV001652709] Chr19:6711947 [GRCh38]
Chr19:6711958 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2950+212C>T single nucleotide variant not provided [RCV001710681] Chr19:6696167 [GRCh38]
Chr19:6696178 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4173-295dup duplication not provided [RCV001710354] Chr19:6682522..6682523 [GRCh38]
Chr19:6682533..6682534 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2796+140del deletion not provided [RCV001609163] Chr19:6697204 [GRCh38]
Chr19:6697215 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3 copy number gain not provided [RCV001007028] Chr19:5949772..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3230+36C>T single nucleotide variant not provided [RCV001611490] Chr19:6693376 [GRCh38]
Chr19:6693387 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-266G>A single nucleotide variant not provided [RCV001707434] Chr19:6679762 [GRCh38]
Chr19:6679773 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3155-73G>A single nucleotide variant not provided [RCV001680947] Chr19:6693560 [GRCh38]
Chr19:6693571 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4351-236G>A single nucleotide variant not provided [RCV001690128] Chr19:6680499 [GRCh38]
Chr19:6680510 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-252A>C single nucleotide variant not provided [RCV001614550] Chr19:6696911 [GRCh38]
Chr19:6696922 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4546+58A>G single nucleotide variant Age related macular degeneration 9 [RCV001554740]|Complement component 3 deficiency [RCV001554739]|not provided [RCV001615329] Chr19:6679349 [GRCh38]
Chr19:6679360 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2950+48T>C single nucleotide variant Age related macular degeneration 9 [RCV001554746]|Complement component 3 deficiency [RCV001554745]|not provided [RCV001685526] Chr19:6696331 [GRCh38]
Chr19:6696342 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser) single nucleotide variant Age related macular degeneration 9 [RCV001129148]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129147]|Complement component 3 deficiency [RCV001129149] Chr19:6686141 [GRCh38]
Chr19:6686152 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.928G>A (p.Gly310Arg) single nucleotide variant Age related macular degeneration 9 [RCV001129880]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129349]|Complement component 3 deficiency [RCV001129881]|not provided [RCV001873520] Chr19:6713264 [GRCh38]
Chr19:6713275 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.2793C>T (p.Val931=) single nucleotide variant Age related macular degeneration 9 [RCV001129352]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129351]|Complement component 3 deficiency [RCV001129350] Chr19:6697347 [GRCh38]
Chr19:6697358 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2441-6G>A single nucleotide variant Age related macular degeneration 9 [RCV001129461]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129459]|Complement component 3 deficiency [RCV001129460]|not provided [RCV002558267] Chr19:6697800 [GRCh38]
Chr19:6697811 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1725T>C (p.Pro575=) single nucleotide variant Age related macular degeneration 9 [RCV001129676]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129675]|Complement component 3 deficiency [RCV001129674] Chr19:6709804 [GRCh38]
Chr19:6709815 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3810+46C>T single nucleotide variant not provided [RCV001669039] Chr19:6686078 [GRCh38]
Chr19:6686089 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2061dup (p.Lys688fs) duplication Complement component 3 deficiency [RCV001030001]|not provided [RCV001726417] Chr19:6707259..6707260 [GRCh38]
Chr19:6707270..6707271 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1846-214AG[3] microsatellite not provided [RCV001643961] Chr19:6708134..6708137 [GRCh38]
Chr19:6708145..6708148 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2441-232A>T single nucleotide variant not provided [RCV001709269] Chr19:6698026 [GRCh38]
Chr19:6698037 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1098A>G (p.Pro366=) single nucleotide variant Age related macular degeneration 9 [RCV001134903]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001134905]|Complement component 3 deficiency [RCV001134904]|not provided [RCV002070575] Chr19:6712529 [GRCh38]
Chr19:6712540 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.3(C3):c.-75A>C single nucleotide variant Age related macular degeneration 9 [RCV001135172]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001135173]|Complement component 3 deficiency [RCV001135171] Chr19:6720664 [GRCh38]
Chr19:6720675 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2617T>C (p.Cys873Arg) single nucleotide variant Age related macular degeneration 9 [RCV001136444]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136443]|Complement component 3 deficiency [RCV001136442] Chr19:6697523 [GRCh38]
Chr19:6697534 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2584G>T (p.Val862Leu) single nucleotide variant Age related macular degeneration 9 [RCV001136445]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001136447]|Complement component 3 deficiency [RCV001136446] Chr19:6697556 [GRCh38]
Chr19:6697567 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.267+9A>G single nucleotide variant Age related macular degeneration 9 [RCV001130716]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001130715]|Complement component 3 deficiency [RCV001130717] Chr19:6719202 [GRCh38]
Chr19:6719213 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3586C>T (p.Leu1196=) single nucleotide variant Age related macular degeneration 9 [RCV001131826]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001131827]|Complement component 3 deficiency [RCV001131828] Chr19:6686806 [GRCh38]
Chr19:6686817 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2429C>T (p.Ser810Leu) single nucleotide variant Age related macular degeneration 9 [RCV001132178]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132180]|Complement component 3 deficiency [RCV001132179] Chr19:6702138 [GRCh38]
Chr19:6702149 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3303C>G (p.Cys1101Trp) single nucleotide variant not provided [RCV001200614] Chr19:6693011 [GRCh38]
Chr19:6693022 [GRCh37]
Chr19:19p13.3		 likely pathogenic|uncertain significance
NM_000064.4(C3):c.1686+10C>T single nucleotide variant Age related macular degeneration 9 [RCV001132391]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132389]|Complement component 3 deficiency [RCV001132390] Chr19:6710629 [GRCh38]
Chr19:6710640 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1685C>T (p.Ser562Leu) single nucleotide variant Age related macular degeneration 9 [RCV001132393]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132392]|Complement component 3 deficiency [RCV001132394]|not provided [RCV001856709] Chr19:6710640 [GRCh38]
Chr19:6710651 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.48C>A (p.His16Gln) single nucleotide variant Age related macular degeneration 9 [RCV001130719]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001130718]|Complement component 3 deficiency [RCV001133671]|not provided [RCV003727888] Chr19:6720542 [GRCh38]
Chr19:6720553 [GRCh37]
Chr19:19p13.3		 benign|uncertain significance
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp) single nucleotide variant Age related macular degeneration 9 [RCV001132814]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132813]|Complement component 3 deficiency [RCV001131829] Chr19:6690669 [GRCh38]
Chr19:6690680 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) single nucleotide variant Age related macular degeneration 9 [RCV001132612]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132614]|Complement component 3 deficiency [RCV001132613]|not provided [RCV001856710] Chr19:6679482 [GRCh38]
Chr19:6679493 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.3411C>T (p.Asn1137=) single nucleotide variant Age related macular degeneration 9 [RCV001132816]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132815]|Complement component 3 deficiency [RCV001132817]|not provided [RCV002556850] Chr19:6690707 [GRCh38]
Chr19:6690718 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2863+15G>T single nucleotide variant Age related macular degeneration 9 [RCV001132906]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001132905]|Complement component 3 deficiency [RCV001132907]|not provided [RCV002070551] Chr19:6696578 [GRCh38]
Chr19:6696589 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1618G>T (p.Ala540Ser) single nucleotide variant C3-related disorder [RCV004751930]|not provided [RCV001232837] Chr19:6710707 [GRCh38]
Chr19:6710718 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3391-8T>C single nucleotide variant Age related macular degeneration 9 [RCV001136214]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129251]|Complement component 3 deficiency [RCV001136215]|not provided [RCV001515235] Chr19:6690735 [GRCh38]
Chr19:6690746 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) single nucleotide variant Age related macular degeneration 9 [RCV001129557]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001129558]|Complement component 3 deficiency [RCV001129559]|not provided [RCV002556822] Chr19:6707114 [GRCh38]
Chr19:6707125 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3 copy number gain not provided [RCV001259930] Chr19:6096399..6699729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) deletion Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001280826]|not provided [RCV003558792] Chr19:6686196..6686197 [GRCh38]
Chr19:6686207..6686208 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.2204G>A (p.Arg735Gln) single nucleotide variant Age related macular degeneration 9 [RCV002499700]|Inborn genetic diseases [RCV004036616]|not provided [RCV001350250] Chr19:6707117 [GRCh38]
Chr19:6707128 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4364A>G (p.Glu1455Gly) single nucleotide variant not provided [RCV001311152] Chr19:6680250 [GRCh38]
Chr19:6680261 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.732C>A (p.Tyr244Ter) single nucleotide variant not provided [RCV001311154] Chr19:6714033 [GRCh38]
Chr19:6714044 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328273] Chr19:6690648 [GRCh38]
Chr19:6690659 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.305G>A (p.Arg102His) single nucleotide variant Age related macular degeneration 9 [RCV002504563]|not provided [RCV001351670] Chr19:6718375 [GRCh38]
Chr19:6718386 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3537C>A (p.Asn1179Lys) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001310081] Chr19:6686855 [GRCh38]
Chr19:6686866 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3155-9_3155-5del microsatellite not provided [RCV001340689] Chr19:6693492..6693496 [GRCh38]
Chr19:6693503..6693507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn) single nucleotide variant Age related macular degeneration 9 [RCV002486180]|not provided [RCV001304335] Chr19:6684596 [GRCh38]
Chr19:6684607 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln) single nucleotide variant Age related macular degeneration 9 [RCV002486017]|Atypical hemolytic-uremic syndrome [RCV001328209]|not provided [RCV003770406] Chr19:6681943 [GRCh38]
Chr19:6681954 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1028G>A (p.Arg343His) single nucleotide variant not provided [RCV001311153] Chr19:6712599 [GRCh38]
Chr19:6712610 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4631-287T>C single nucleotide variant not provided [RCV001538422] Chr19:6678742 [GRCh38]
Chr19:6678753 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.28C>A (p.Leu10Met) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294456]|not provided [RCV001373123] Chr19:6720562 [GRCh38]
Chr19:6720573 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1999G>A (p.Ala667Thr) single nucleotide variant Age related macular degeneration 9 [RCV002493460]|Atypical hemolytic-uremic syndrome [RCV001328275]|not provided [RCV001880190] Chr19:6707514 [GRCh38]
Chr19:6707525 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4100T>A (p.Ile1367Lys) single nucleotide variant not provided [RCV001321241] Chr19:6684580 [GRCh38]
Chr19:6684591 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4029G>A (p.Ser1343=) single nucleotide variant Age related macular degeneration 9 [RCV002493574]|not provided [RCV001298889] Chr19:6684775 [GRCh38]
Chr19:6684786 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1522C>G (p.Arg508Gly) single nucleotide variant not provided [RCV001339578] Chr19:6710803 [GRCh38]
Chr19:6710814 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3914C>A (p.Ser1305Tyr) single nucleotide variant Inborn genetic diseases [RCV002547412]|not provided [RCV001341813] Chr19:6685043 [GRCh38]
Chr19:6685054 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3754G>A (p.Val1252Ile) single nucleotide variant Age related macular degeneration 9 [RCV002499717]|not provided [RCV001357738] Chr19:6686180 [GRCh38]
Chr19:6686191 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1027C>T (p.Arg343Cys) single nucleotide variant Age related macular degeneration 9 [RCV002493622]|C3-related disorder [RCV004751956]|Inborn genetic diseases [RCV002545029]|not provided [RCV001309578] Chr19:6712600 [GRCh38]
Chr19:6712611 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2642G>A (p.Arg881His) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328277]|not provided [RCV001880191] Chr19:6697498 [GRCh38]
Chr19:6697509 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1678G>A (p.Val560Met) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328278] Chr19:6710647 [GRCh38]
Chr19:6710658 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3757G>A (p.Val1253Met) single nucleotide variant Age related macular degeneration 9 [RCV002488142]|not provided [RCV001367946] Chr19:6686177 [GRCh38]
Chr19:6686188 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1402G>A (p.Gly468Arg) single nucleotide variant Age related macular degeneration 9 [RCV002486468]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001353350]|not provided [RCV001369008] Chr19:6711064 [GRCh38]
Chr19:6711075 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4791G>A (p.Glu1597=) single nucleotide variant Age related macular degeneration 9 [RCV002499885]|C3-related disorder [RCV003938705]|not provided [RCV001413103] Chr19:6678211 [GRCh38]
Chr19:6678222 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1120-20A>G single nucleotide variant not provided [RCV001490418] Chr19:6712426 [GRCh38]
Chr19:6712437 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.773+11dup duplication not provided [RCV001519877] Chr19:6713976..6713977 [GRCh38]
Chr19:6713987..6713988 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2864-20A>G single nucleotide variant Age related macular degeneration 9 [RCV001554748]|Complement component 3 deficiency [RCV001554747]|not provided [RCV001511595]|not specified [RCV001530054] Chr19:6696485 [GRCh38]
Chr19:6696496 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2441-234TAA[15] microsatellite not provided [RCV001538607] Chr19:6697989..6697990 [GRCh38]
Chr19:6698000..6698001 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1731T>C (p.Pro577=) single nucleotide variant Age related macular degeneration 9 [RCV002501674]|C3-related disorder [RCV003948422]|not provided [RCV001487551]|not specified [RCV001820186] Chr19:6709798 [GRCh38]
Chr19:6709809 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2048-20G>T single nucleotide variant not provided [RCV001403612] Chr19:6707293 [GRCh38]
Chr19:6707304 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4121-14_4121-13del deletion not provided [RCV001400039] Chr19:6684452..6684453 [GRCh38]
Chr19:6684463..6684464 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3391-244G>C single nucleotide variant not provided [RCV001534842] Chr19:6690971 [GRCh38]
Chr19:6690982 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3647-13A>G single nucleotide variant Age related macular degeneration 9 [RCV002501717]|not provided [RCV001498737] Chr19:6686300 [GRCh38]
Chr19:6686311 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1687-300C>T single nucleotide variant not provided [RCV001670441] Chr19:6710142 [GRCh38]
Chr19:6710153 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3423G>T (p.Met1141Ile) single nucleotide variant not provided [RCV001507914] Chr19:6690695 [GRCh38]
Chr19:6690706 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp) single nucleotide variant Age related macular degeneration 9 [RCV002495778]|not provided [RCV001507916] Chr19:6694461 [GRCh38]
Chr19:6694472 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2797-251G>A single nucleotide variant not provided [RCV001653268] Chr19:6696910 [GRCh38]
Chr19:6696921 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3154+43C>T single nucleotide variant not provided [RCV001655376] Chr19:6694388 [GRCh38]
Chr19:6694399 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4457-138G>A single nucleotide variant not provided [RCV001653402] Chr19:6679634 [GRCh38]
Chr19:6679645 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3489+69G>A single nucleotide variant not provided [RCV001614771] Chr19:6690560 [GRCh38]
Chr19:6690571 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1479+50C>T single nucleotide variant not provided [RCV001614904] Chr19:6710937 [GRCh38]
Chr19:6710948 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2440+248T>G single nucleotide variant not provided [RCV001648960] Chr19:6701879 [GRCh38]
Chr19:6701890 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.75-252T>C single nucleotide variant not provided [RCV001618961] Chr19:6719655 [GRCh38]
Chr19:6719666 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4630+265G>T single nucleotide variant not provided [RCV001688491] Chr19:6678860 [GRCh38]
Chr19:6678871 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.3810+205T>A single nucleotide variant not provided [RCV001614143]|not specified [RCV003321859] Chr19:6685919 [GRCh38]
Chr19:6685930 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1976-19C>T single nucleotide variant Age related macular degeneration 9 [RCV002506598]|not provided [RCV001512600] Chr19:6707556 [GRCh38]
Chr19:6707567 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2797-119C>T single nucleotide variant not provided [RCV001671981] Chr19:6696778 [GRCh38]
Chr19:6696789 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.75-213G>A single nucleotide variant not provided [RCV001689460] Chr19:6719616 [GRCh38]
Chr19:6719627 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2354+27C>G single nucleotide variant not provided [RCV001674189] Chr19:6702444 [GRCh38]
Chr19:6702455 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2355-19C>A single nucleotide variant not provided [RCV001522899] Chr19:6702231 [GRCh38]
Chr19:6702242 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.1846-175GA[6] microsatellite not provided [RCV001675229] Chr19:6708096..6708097 [GRCh38]
Chr19:6708107..6708108 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.2246-182G>A single nucleotide variant not provided [RCV001537546] Chr19:6702761 [GRCh38]
Chr19:6702772 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln) single nucleotide variant Age related macular degeneration 9 [RCV002488305]|not provided [RCV001507911] Chr19:6677968 [GRCh38]
Chr19:6677979 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3475G>A (p.Glu1159Lys) single nucleotide variant not provided [RCV001507913] Chr19:6690643 [GRCh38]
Chr19:6690654 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.965A>G (p.Lys322Arg) single nucleotide variant Age related macular degeneration 9 [RCV002488306]|not provided [RCV001507919] Chr19:6713227 [GRCh38]
Chr19:6713238 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.826C>G (p.Gln276Glu) single nucleotide variant not provided [RCV001507920] Chr19:6713457 [GRCh38]
Chr19:6713468 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.481C>T (p.Arg161Trp) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV002466678]|not provided [RCV001507921] Chr19:6718117 [GRCh38]
Chr19:6718128 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4172+19G>A single nucleotide variant Age related macular degeneration 9 [RCV002488286]|not provided [RCV001482205]|not specified [RCV003479332] Chr19:6684369 [GRCh38]
Chr19:6684380 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1477C>G (p.Leu493Val) single nucleotide variant not provided [RCV001888984] Chr19:6710989 [GRCh38]
Chr19:6711000 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.599+10G>T single nucleotide variant not provided [RCV001440703] Chr19:6714342 [GRCh38]
Chr19:6714353 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2951-5T>C single nucleotide variant Age related macular degeneration 9 [RCV002501789]|C3-related disorder [RCV003908833]|not provided [RCV001515503] Chr19:6694639 [GRCh38]
Chr19:6694650 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.2950+19C>T single nucleotide variant not provided [RCV001497022] Chr19:6696360 [GRCh38]
Chr19:6696371 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4520G>A (p.Arg1507His) single nucleotide variant not provided [RCV001730264] Chr19:6679433 [GRCh38]
Chr19:6679444 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1909G>C (p.Gly637Arg) single nucleotide variant Age related macular degeneration 9 [RCV002488491]|C3-related disorder [RCV004752040]|not provided [RCV001730418] Chr19:6707866 [GRCh38]
Chr19:6707877 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4350+6G>C single nucleotide variant not provided [RCV001730223] Chr19:6681935 [GRCh38]
Chr19:6681946 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.876+19G>A single nucleotide variant Age related macular degeneration 9 [RCV002488488]|not provided [RCV001730236] Chr19:6713388 [GRCh38]
Chr19:6713399 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4201T>A (p.Ser1401Thr) single nucleotide variant not provided [RCV001758805] Chr19:6682201 [GRCh38]
Chr19:6682212 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3765G>C (p.Trp1255Cys) single nucleotide variant not provided [RCV001761023] Chr19:6686169 [GRCh38]
Chr19:6686180 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2527G>A (p.Glu843Lys) single nucleotide variant not provided [RCV001771071] Chr19:6697708 [GRCh38]
Chr19:6697719 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.677A>T (p.Glu226Val) single nucleotide variant not provided [RCV001772910] Chr19:6714171 [GRCh38]
Chr19:6714182 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.697G>A (p.Glu233Lys) single nucleotide variant not provided [RCV001774160] Chr19:6714068 [GRCh38]
Chr19:6714079 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1004-5C>T single nucleotide variant not provided [RCV001815848] Chr19:6712628 [GRCh38]
Chr19:6712639 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2118G>A (p.Ser706=) single nucleotide variant Age related macular degeneration 9 [RCV002506847]|not provided [RCV002077284]|not specified [RCV001817224] Chr19:6707203 [GRCh38]
Chr19:6707214 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1509G>A (p.Ala503=) single nucleotide variant not provided [RCV001815847] Chr19:6710816 [GRCh38]
Chr19:6710827 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4317C>T (p.Ser1439=) single nucleotide variant C3-related disorder [RCV003948746]|not provided [RCV003772311]|not specified [RCV001820353] Chr19:6681974 [GRCh38]
Chr19:6681985 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4350+6G>T single nucleotide variant not provided [RCV002542556]|not specified [RCV001819274] Chr19:6681935 [GRCh38]
Chr19:6681946 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.877-23_877-10dup duplication not specified [RCV001819275] Chr19:6713324..6713325 [GRCh38]
Chr19:6713335..6713336 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2983G>A (p.Val995Ile) single nucleotide variant not specified [RCV001820646] Chr19:6694602 [GRCh38]
Chr19:6694613 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3023C>T (p.Ser1008Leu) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV002282624]|C3-related disorder [RCV003913432]|not provided [RCV001874798] Chr19:6694562 [GRCh38]
Chr19:6694573 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1625G>A (p.Gly542Asp) single nucleotide variant not provided [RCV001909739] Chr19:6710700 [GRCh38]
Chr19:6710711 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2668C>T (p.Pro890Ser) single nucleotide variant Age related macular degeneration 9 [RCV002484761]|not provided [RCV001988108] Chr19:6697472 [GRCh38]
Chr19:6697483 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4029+6G>A single nucleotide variant not provided [RCV001864430] Chr19:6684769 [GRCh38]
Chr19:6684780 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4802A>G (p.His1601Arg) single nucleotide variant not provided [RCV002009289] Chr19:6678200 [GRCh38]
Chr19:6678211 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.659C>T (p.Thr220Ile) single nucleotide variant not provided [RCV001872325] Chr19:6714189 [GRCh38]
Chr19:6714200 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2363C>T (p.Thr788Met) single nucleotide variant not provided [RCV001969313] Chr19:6702204 [GRCh38]
Chr19:6702215 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1607C>G (p.Thr536Arg) single nucleotide variant not provided [RCV001914503] Chr19:6710718 [GRCh38]
Chr19:6710729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.361G>T (p.Val121Leu) single nucleotide variant not provided [RCV001949723] Chr19:6718319 [GRCh38]
Chr19:6718330 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1988C>G (p.Pro663Arg) single nucleotide variant not provided [RCV002045048] Chr19:6707525 [GRCh38]
Chr19:6707536 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2365A>C (p.Lys789Gln) single nucleotide variant not provided [RCV002045750] Chr19:6702202 [GRCh38]
Chr19:6702213 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1492G>C (p.Gly498Arg) single nucleotide variant not provided [RCV002008113] Chr19:6710833 [GRCh38]
Chr19:6710844 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2522G>A (p.Arg841Gln) single nucleotide variant not provided [RCV001927904] Chr19:6697713 [GRCh38]
Chr19:6697724 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1215C>T (p.Gly405=) single nucleotide variant not provided [RCV001910159] Chr19:6712311 [GRCh38]
Chr19:6712322 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.3853G>C (p.Asp1285His) single nucleotide variant not provided [RCV002006614] Chr19:6685104 [GRCh38]
Chr19:6685115 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3431C>T (p.Thr1144Met) single nucleotide variant not provided [RCV001948100] Chr19:6690687 [GRCh38]
Chr19:6690698 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4101A>G (p.Ile1367Met) single nucleotide variant not provided [RCV002023241] Chr19:6684579 [GRCh38]
Chr19:6684590 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1722G>A (p.Gln574=) single nucleotide variant Age related macular degeneration 9 [RCV002506943]|not provided [RCV001871194] Chr19:6709807 [GRCh38]
Chr19:6709818 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3536A>G (p.Asn1179Ser) single nucleotide variant not provided [RCV002042126] Chr19:6686856 [GRCh38]
Chr19:6686867 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2669C>G (p.Pro890Arg) single nucleotide variant not provided [RCV002022563] Chr19:6697471 [GRCh38]
Chr19:6697482 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.623C>T (p.Ala208Val) single nucleotide variant not provided [RCV001965281] Chr19:6714225 [GRCh38]
Chr19:6714236 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3647A>C (p.Asp1216Ala) single nucleotide variant not provided [RCV002006340] Chr19:6686287 [GRCh38]
Chr19:6686298 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1603T>C (p.Tyr535His) single nucleotide variant not provided [RCV001964094] Chr19:6710722 [GRCh38]
Chr19:6710733 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4204A>G (p.Ile1402Val) single nucleotide variant not provided [RCV001968781] Chr19:6682198 [GRCh38]
Chr19:6682209 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3152A>G (p.Lys1051Arg) single nucleotide variant not provided [RCV001893227] Chr19:6694433 [GRCh38]
Chr19:6694444 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4246G>A (p.Asp1416Asn) single nucleotide variant not provided [RCV002042838] Chr19:6682156 [GRCh38]
Chr19:6682167 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1274G>A (p.Arg425His) single nucleotide variant not provided [RCV001987590] Chr19:6711192 [GRCh38]
Chr19:6711203 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2402C>T (p.Thr801Met) single nucleotide variant not provided [RCV002023123] Chr19:6702165 [GRCh38]
Chr19:6702176 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2564G>A (p.Arg855Gln) single nucleotide variant not provided [RCV001895394] Chr19:6697671 [GRCh38]
Chr19:6697682 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2354+20G>A single nucleotide variant not provided [RCV001889426] Chr19:6702451 [GRCh38]
Chr19:6702462 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1702G>A (p.Gly568Ser) single nucleotide variant not provided [RCV001889974] Chr19:6709827 [GRCh38]
Chr19:6709838 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1385G>C (p.Arg462Pro) single nucleotide variant not provided [RCV002020999] Chr19:6711081 [GRCh38]
Chr19:6711092 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1385G>A (p.Arg462His) single nucleotide variant Inborn genetic diseases [RCV003250392]|not provided [RCV001987075] Chr19:6711081 [GRCh38]
Chr19:6711092 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3863A>G (p.Asp1288Gly) single nucleotide variant not provided [RCV002042573] Chr19:6685094 [GRCh38]
Chr19:6685105 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.371G>A (p.Ser124Asn) single nucleotide variant not provided [RCV001910574] Chr19:6718309 [GRCh38]
Chr19:6718320 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2548G>A (p.Val850Ile) single nucleotide variant not provided [RCV001892612] Chr19:6697687 [GRCh38]
Chr19:6697698 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.166A>G (p.Thr56Ala) single nucleotide variant not provided [RCV001966831] Chr19:6719312 [GRCh38]
Chr19:6719323 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4534C>T (p.Arg1512Cys) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV001849661] Chr19:6679419 [GRCh38]
Chr19:6679430 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.3884A>T (p.Asp1295Val) single nucleotide variant not provided [RCV002043419] Chr19:6685073 [GRCh38]
Chr19:6685084 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1768G>A (p.Gly590Arg) single nucleotide variant not provided [RCV002040593] Chr19:6709761 [GRCh38]
Chr19:6709772 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2863+18G>T single nucleotide variant not provided [RCV001965635] Chr19:6696575 [GRCh38]
Chr19:6696586 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2512T>A (p.Ser838Thr) single nucleotide variant not provided [RCV001886581] Chr19:6697723 [GRCh38]
Chr19:6697734 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV001943937] Chr19:6719291 [GRCh38]
Chr19:6719302 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.433G>A (p.Val145Ile) single nucleotide variant not provided [RCV001957080] Chr19:6718247 [GRCh38]
Chr19:6718258 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1179C>T (p.Gly393=) single nucleotide variant not provided [RCV002038072] Chr19:6712347 [GRCh38]
Chr19:6712358 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.85A>G (p.Ile29Val) single nucleotide variant not provided [RCV002038883] Chr19:6719393 [GRCh38]
Chr19:6719404 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3858C>T (p.Ala1286=) single nucleotide variant Age related macular degeneration 9 [RCV002492125]|not provided [RCV001942302] Chr19:6685099 [GRCh38]
Chr19:6685110 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3068T>C (p.Ile1023Thr) single nucleotide variant not provided [RCV001906871] Chr19:6694517 [GRCh38]
Chr19:6694528 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4318G>A (p.Asp1440Asn) single nucleotide variant not provided [RCV002038131] Chr19:6681973 [GRCh38]
Chr19:6681984 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.606C>T (p.Gly202=) single nucleotide variant not provided [RCV001888149] Chr19:6714242 [GRCh38]
Chr19:6714253 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp) single nucleotide variant Age related macular degeneration 9 [RCV002503502]|not provided [RCV001886823] Chr19:6682225 [GRCh38]
Chr19:6682236 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.373dup (p.Leu125fs) duplication Age related macular degeneration 9 [RCV002479579]|not provided [RCV001962978] Chr19:6718306..6718307 [GRCh38]
Chr19:6718317..6718318 [GRCh37]
Chr19:19p13.3		 pathogenic|likely pathogenic
NM_000064.4(C3):c.899T>C (p.Val300Ala) single nucleotide variant Age related macular degeneration 9 [RCV002507626]|not provided [RCV001944336] Chr19:6713293 [GRCh38]
Chr19:6713304 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4193C>G (p.Ala1398Gly) single nucleotide variant not provided [RCV002049882] Chr19:6682209 [GRCh38]
Chr19:6682220 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1277C>T (p.Thr426Met) single nucleotide variant not provided [RCV002033199] Chr19:6711189 [GRCh38]
Chr19:6711200 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.283G>A (p.Glu95Lys) single nucleotide variant Age related macular degeneration 9 [RCV002497964]|Inborn genetic diseases [RCV004043282]|not provided [RCV002000946] Chr19:6718397 [GRCh38]
Chr19:6718408 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2669C>T (p.Pro890Leu) single nucleotide variant not provided [RCV001917291] Chr19:6697471 [GRCh38]
Chr19:6697482 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.976G>A (p.Val326Met) single nucleotide variant Age related macular degeneration 9 [RCV002492153]|not provided [RCV001956679] Chr19:6713216 [GRCh38]
Chr19:6713227 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.365T>G (p.Leu122Arg) single nucleotide variant not provided [RCV001977836] Chr19:6718315 [GRCh38]
Chr19:6718326 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1182G>C (p.Glu394Asp) single nucleotide variant not provided [RCV002035677] Chr19:6712344 [GRCh38]
Chr19:6712355 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys) single nucleotide variant Age related macular degeneration 9 [RCV002482421]|not provided [RCV002050873] Chr19:6686279 [GRCh38]
Chr19:6686290 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3581A>G (p.Tyr1194Cys) single nucleotide variant not provided [RCV001991117] Chr19:6686811 [GRCh38]
Chr19:6686822 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu) single nucleotide variant Age related macular degeneration 9 [RCV002478102]|not provided [RCV002046999] Chr19:6679469 [GRCh38]
Chr19:6679480 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2863+5G>T single nucleotide variant not provided [RCV001917930] Chr19:6696588 [GRCh38]
Chr19:6696599 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.991A>G (p.Ile331Val) single nucleotide variant not provided [RCV002016310] Chr19:6713201 [GRCh38]
Chr19:6713212 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2435A>G (p.Lys812Arg) single nucleotide variant not provided [RCV002031013] Chr19:6702132 [GRCh38]
Chr19:6702143 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1686G>A (p.Ser562=) single nucleotide variant Age related macular degeneration 9 [RCV002484622]|not provided [RCV001931508] Chr19:6710639 [GRCh38]
Chr19:6710650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4351G>T (p.Val1451Phe) single nucleotide variant not provided [RCV002011036] Chr19:6680263 [GRCh38]
Chr19:6680274 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2543G>A (p.Arg848Gln) single nucleotide variant not provided [RCV001875248] Chr19:6697692 [GRCh38]
Chr19:6697703 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.829G>A (p.Asp277Asn) single nucleotide variant not provided [RCV002049938] Chr19:6713454 [GRCh38]
Chr19:6713465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2439A>T (p.Lys813Asn) single nucleotide variant not provided [RCV001922063] Chr19:6702128 [GRCh38]
Chr19:6702139 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2008C>T (p.Arg670Cys) single nucleotide variant not provided [RCV001904029] Chr19:6707505 [GRCh38]
Chr19:6707516 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2945T>C (p.Leu982Pro) single nucleotide variant not provided [RCV001902295] Chr19:6696384 [GRCh38]
Chr19:6696395 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4411C>T (p.Leu1471Phe) single nucleotide variant not provided [RCV001955275] Chr19:6680203 [GRCh38]
Chr19:6680214 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1126G>A (p.Val376Met) single nucleotide variant not provided [RCV002050108] Chr19:6712400 [GRCh38]
Chr19:6712411 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1846-2A>C single nucleotide variant not provided [RCV002031409] Chr19:6707931 [GRCh38]
Chr19:6707942 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.452C>G (p.Thr151Ser) single nucleotide variant Age related macular degeneration 9 [RCV002503393]|not provided [RCV001878434] Chr19:6718146 [GRCh38]
Chr19:6718157 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp) single nucleotide variant Age related macular degeneration 9 [RCV002482676]|not provided [RCV001905767] Chr19:6694489 [GRCh38]
Chr19:6694500 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1274G>T (p.Arg425Leu) single nucleotide variant Age related macular degeneration 9 [RCV002507018]|not provided [RCV001906930] Chr19:6711192 [GRCh38]
Chr19:6711203 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2455G>C (p.Asp819His) single nucleotide variant not provided [RCV001899222] Chr19:6697780 [GRCh38]
Chr19:6697791 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.683-3C>A single nucleotide variant not provided [RCV001972899] Chr19:6714085 [GRCh38]
Chr19:6714096 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2326G>C (p.Glu776Gln) single nucleotide variant Age related macular degeneration 9 [RCV002503469]|not provided [RCV001886359] Chr19:6702499 [GRCh38]
Chr19:6702510 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2134C>T (p.Arg712Cys) single nucleotide variant not provided [RCV001900714] Chr19:6707187 [GRCh38]
Chr19:6707198 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4851-1G>T single nucleotide variant not provided [RCV001867483] Chr19:6678024 [GRCh38]
Chr19:6678035 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3884A>G (p.Asp1295Gly) single nucleotide variant not provided [RCV002029909] Chr19:6685073 [GRCh38]
Chr19:6685084 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1792G>A (p.Val598Met) single nucleotide variant not provided [RCV002013521] Chr19:6709737 [GRCh38]
Chr19:6709748 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys) single nucleotide variant Age related macular degeneration 9 [RCV002507045]|not provided [RCV001952288] Chr19:6693072 [GRCh38]
Chr19:6693083 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3970-7T>A single nucleotide variant not provided [RCV001973365] Chr19:6684841 [GRCh38]
Chr19:6684852 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.102del (p.Leu34fs) deletion not provided [RCV001956247] Chr19:6719376 [GRCh38]
Chr19:6719387 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.3489C>T (p.Asn1163=) single nucleotide variant not provided [RCV001935628] Chr19:6690629 [GRCh38]
Chr19:6690640 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2756A>T (p.His919Leu) single nucleotide variant not provided [RCV002018514] Chr19:6697384 [GRCh38]
Chr19:6697395 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.944G>A (p.Arg315Gln) single nucleotide variant Age related macular degeneration 9 [RCV002482753]|not provided [RCV001919919] Chr19:6713248 [GRCh38]
Chr19:6713259 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3625A>G (p.Lys1209Glu) single nucleotide variant not provided [RCV002013953] Chr19:6686767 [GRCh38]
Chr19:6686778 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3668C>T (p.Pro1223Leu) single nucleotide variant not provided [RCV001940752] Chr19:6686266 [GRCh38]
Chr19:6686277 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.876+4C>T single nucleotide variant not provided [RCV001952832] Chr19:6713403 [GRCh38]
Chr19:6713414 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3481C>A (p.Gln1161Lys) single nucleotide variant not provided [RCV002013954] Chr19:6690637 [GRCh38]
Chr19:6690648 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4577A>G (p.Lys1526Arg) single nucleotide variant not provided [RCV001977164] Chr19:6679178 [GRCh38]
Chr19:6679189 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.509C>G (p.Pro170Arg) single nucleotide variant not provided [RCV002017917] Chr19:6714442 [GRCh38]
Chr19:6714453 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2797-7T>C single nucleotide variant not provided [RCV002016165] Chr19:6696666 [GRCh38]
Chr19:6696677 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4630+12A>G single nucleotide variant not provided [RCV001939073] Chr19:6679113 [GRCh38]
Chr19:6679124 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1887G>A (p.Pro629=) single nucleotide variant Age related macular degeneration 9 [RCV002490211]|not provided [RCV001906517] Chr19:6707888 [GRCh38]
Chr19:6707899 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr) single nucleotide variant Age related macular degeneration 9 [RCV002492397]|not provided [RCV002028086] Chr19:6702577 [GRCh38]
Chr19:6702588 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3201G>A (p.Ala1067=) single nucleotide variant not provided [RCV001879152] Chr19:6693441 [GRCh38]
Chr19:6693452 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.1717C>T (p.Arg573Trp) single nucleotide variant not provided [RCV001881022] Chr19:6709812 [GRCh38]
Chr19:6709823 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.268-2A>G single nucleotide variant not provided [RCV001977904] Chr19:6718414 [GRCh38]
Chr19:6718425 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp) single nucleotide variant Age related macular degeneration 9 [RCV002482514]|not provided [RCV001900125] Chr19:6690718 [GRCh38]
Chr19:6690729 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln) single nucleotide variant Age related macular degeneration 9 [RCV002484464]|Atypical hemolytic-uremic syndrome [RCV002294491]|Inborn genetic diseases [RCV004603069]|not provided [RCV001922875] Chr19:6690717 [GRCh38]
Chr19:6690728 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4823C>T (p.Ser1608Phe) single nucleotide variant not provided [RCV001897464] Chr19:6678179 [GRCh38]
Chr19:6678190 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.911G>A (p.Arg304Gln) single nucleotide variant not provided [RCV002046509] Chr19:6713281 [GRCh38]
Chr19:6713292 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.664T>A (p.Phe222Ile) single nucleotide variant not provided [RCV001934532] Chr19:6714184 [GRCh38]
Chr19:6714195 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2596C>G (p.Leu866Val) single nucleotide variant not provided [RCV001935490] Chr19:6697544 [GRCh38]
Chr19:6697555 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2214C>A (p.His738Gln) single nucleotide variant not provided [RCV002048468] Chr19:6707107 [GRCh38]
Chr19:6707118 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4350+7C>A single nucleotide variant Age related macular degeneration 9 [RCV002500262]|not provided [RCV002126495] Chr19:6681934 [GRCh38]
Chr19:6681945 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2583+13G>A single nucleotide variant Age related macular degeneration 9 [RCV002505852]|not provided [RCV002193049] Chr19:6697639 [GRCh38]
Chr19:6697650 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4457-13C>T single nucleotide variant Age related macular degeneration 9 [RCV002500301]|not provided [RCV002148686] Chr19:6679509 [GRCh38]
Chr19:6679520 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.469C>T (p.Leu157=) single nucleotide variant not provided [RCV002128181] Chr19:6718129 [GRCh38]
Chr19:6718140 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1686+20G>A single nucleotide variant Age related macular degeneration 9 [RCV002500062]|not provided [RCV002127362] Chr19:6710619 [GRCh38]
Chr19:6710630 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.3306G>A (p.Gly1102=) single nucleotide variant C3-related disorder [RCV003951318]|not provided [RCV002188987] Chr19:6693008 [GRCh38]
Chr19:6693019 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1047G>C (p.Val349=) single nucleotide variant Age related macular degeneration 9 [RCV002498311]|not provided [RCV002075866] Chr19:6712580 [GRCh38]
Chr19:6712591 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2797-16C>T single nucleotide variant not provided [RCV002207240] Chr19:6696675 [GRCh38]
Chr19:6696686 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.591A>G (p.Glu197=) single nucleotide variant not provided [RCV002111356] Chr19:6714360 [GRCh38]
Chr19:6714371 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4707C>T (p.Ile1569=) single nucleotide variant not provided [RCV002188024] Chr19:6678379 [GRCh38]
Chr19:6678390 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3490-10T>G single nucleotide variant not provided [RCV002104929]|not specified [RCV003331293] Chr19:6686912 [GRCh38]
Chr19:6686923 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000064.4(C3):c.2583+14T>C single nucleotide variant not provided [RCV002149094] Chr19:6697638 [GRCh38]
Chr19:6697649 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.216G>A (p.Glu72=) single nucleotide variant Age related macular degeneration 9 [RCV002507878]|not provided [RCV002165655] Chr19:6719262 [GRCh38]
Chr19:6719273 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2584-7C>T single nucleotide variant not provided [RCV002089457] Chr19:6697563 [GRCh38]
Chr19:6697574 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.963G>A (p.Gly321=) single nucleotide variant not provided [RCV002111124] Chr19:6713229 [GRCh38]
Chr19:6713240 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.387C>G (p.Tyr129Ter) single nucleotide variant not provided [RCV002224681] Chr19:6718293 [GRCh38]
Chr19:6718304 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.2229C>T (p.His743=) single nucleotide variant not provided [RCV002089551] Chr19:6707092 [GRCh38]
Chr19:6707103 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.268-12G>T single nucleotide variant not provided [RCV002209819] Chr19:6718424 [GRCh38]
Chr19:6718435 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu) single nucleotide variant Age related macular degeneration 9 [RCV002487028]|not provided [RCV002223671] Chr19:6694454 [GRCh38]
Chr19:6694465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2916G>A (p.Pro972=) single nucleotide variant not provided [RCV002145101] Chr19:6696413 [GRCh38]
Chr19:6696424 [GRCh37]
Chr19:19p13.3		 benign
NM_000064.4(C3):c.453C>G (p.Thr151=) single nucleotide variant not provided [RCV002189160] Chr19:6718145 [GRCh38]
Chr19:6718156 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1479+13C>G single nucleotide variant Age related macular degeneration 9 [RCV002507850]|not provided [RCV002092431] Chr19:6710974 [GRCh38]
Chr19:6710985 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2769C>T (p.Asp923=) single nucleotide variant not provided [RCV002146953] Chr19:6697371 [GRCh38]
Chr19:6697382 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.773+17G>T single nucleotide variant not provided [RCV002208818] Chr19:6713975 [GRCh38]
Chr19:6713986 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4911C>T (p.Cys1637=) single nucleotide variant not provided [RCV002073801] Chr19:6677963 [GRCh38]
Chr19:6677974 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.834C>T (p.Gly278=) single nucleotide variant not provided [RCV002088751] Chr19:6713449 [GRCh38]
Chr19:6713460 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1032C>T (p.Ser344=) single nucleotide variant not provided [RCV002148751] Chr19:6712595 [GRCh38]
Chr19:6712606 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4764C>T (p.Ile1588=) single nucleotide variant not provided [RCV002105477] Chr19:6678238 [GRCh38]
Chr19:6678249 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2048-13C>T single nucleotide variant not provided [RCV002186064] Chr19:6707286 [GRCh38]
Chr19:6707297 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.746A>G (p.Lys249Arg) single nucleotide variant not provided [RCV002224803] Chr19:6714019 [GRCh38]
Chr19:6714030 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.774-9G>A single nucleotide variant not provided [RCV002073936] Chr19:6713518 [GRCh38]
Chr19:6713529 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3489+17T>C single nucleotide variant not provided [RCV002188534] Chr19:6690612 [GRCh38]
Chr19:6690623 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1650C>T (p.Ser550=) single nucleotide variant Age related macular degeneration 9 [RCV002508053]|C3-related disorder [RCV003913768]|not provided [RCV002168415] Chr19:6710675 [GRCh38]
Chr19:6710686 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.267+15G>A single nucleotide variant not provided [RCV002072750] Chr19:6719196 [GRCh38]
Chr19:6719207 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1914C>A (p.Val638=) single nucleotide variant not provided [RCV002205558] Chr19:6707861 [GRCh38]
Chr19:6707872 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.144C>T (p.Asp48=) single nucleotide variant not provided [RCV002127594] Chr19:6719334 [GRCh38]
Chr19:6719345 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4892G>A (p.Trp1631Ter) single nucleotide variant not specified [RCV002247041] Chr19:6677982 [GRCh38]
Chr19:6677993 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4121-14T>C single nucleotide variant not provided [RCV002087229] Chr19:6684453 [GRCh38]
Chr19:6684464 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4457-20C>T single nucleotide variant not provided [RCV002084962] Chr19:6679516 [GRCh38]
Chr19:6679527 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1608G>T (p.Thr536=) single nucleotide variant not provided [RCV002126831] Chr19:6710717 [GRCh38]
Chr19:6710728 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2863+8G>A single nucleotide variant not provided [RCV002187313] Chr19:6696585 [GRCh38]
Chr19:6696596 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4546+18G>A single nucleotide variant Age related macular degeneration 9 [RCV002494432]|not provided [RCV002126595] Chr19:6679389 [GRCh38]
Chr19:6679400 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2679G>A (p.Ser893=) single nucleotide variant not provided [RCV002208525] Chr19:6697461 [GRCh38]
Chr19:6697472 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4749G>A (p.Thr1583=) single nucleotide variant not provided [RCV002186658] Chr19:6678253 [GRCh38]
Chr19:6678264 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.975C>T (p.Tyr325=) single nucleotide variant Age related macular degeneration 9 [RCV002494453]|not provided [RCV002145858] Chr19:6713217 [GRCh38]
Chr19:6713228 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.561C>T (p.Gly187=) single nucleotide variant not provided [RCV002151203] Chr19:6714390 [GRCh38]
Chr19:6714401 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3120G>A (p.Glu1040=) single nucleotide variant not provided [RCV002174809] Chr19:6694465 [GRCh38]
Chr19:6694476 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4715-14C>G single nucleotide variant not provided [RCV002150830] Chr19:6678301 [GRCh38]
Chr19:6678312 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2526C>T (p.Asn842=) single nucleotide variant not provided [RCV002153195] Chr19:6697709 [GRCh38]
Chr19:6697720 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.876+10A>T single nucleotide variant not provided [RCV002193413] Chr19:6713397 [GRCh38]
Chr19:6713408 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3489+18T>C single nucleotide variant Age related macular degeneration 9 [RCV002494462]|not provided [RCV002151374] Chr19:6690611 [GRCh38]
Chr19:6690622 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3786C>T (p.Tyr1262=) single nucleotide variant not provided [RCV002076936] Chr19:6686148 [GRCh38]
Chr19:6686159 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1270-7C>G single nucleotide variant not provided [RCV002108113] Chr19:6711203 [GRCh38]
Chr19:6711214 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1686+19C>T single nucleotide variant not provided [RCV002131915] Chr19:6710620 [GRCh38]
Chr19:6710631 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4155C>T (p.Ile1385=) single nucleotide variant Age related macular degeneration 9 [RCV002494233]|not provided [RCV002112856] Chr19:6684405 [GRCh38]
Chr19:6684416 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.434-8C>T single nucleotide variant not provided [RCV002208398] Chr19:6718172 [GRCh38]
Chr19:6718183 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1846-4G>A single nucleotide variant not provided [RCV002193814] Chr19:6707933 [GRCh38]
Chr19:6707944 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1923C>T (p.Asp641=) single nucleotide variant Age related macular degeneration 9 [RCV002500188]|not provided [RCV002132863] Chr19:6707852 [GRCh38]
Chr19:6707863 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000064.4(C3):c.4305C>T (p.Asp1435=) single nucleotide variant not provided [RCV002169642] Chr19:6681986 [GRCh38]
Chr19:6681997 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3015G>T (p.Val1005=) single nucleotide variant Age related macular degeneration 9 [RCV002507877]|not provided [RCV002173387] Chr19:6694570 [GRCh38]
Chr19:6694581 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1119+9C>T single nucleotide variant not provided [RCV002113083] Chr19:6712499 [GRCh38]
Chr19:6712510 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4714+14C>T single nucleotide variant not provided [RCV002172763] Chr19:6678358 [GRCh38]
Chr19:6678369 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1677C>T (p.Cys559=) single nucleotide variant not provided [RCV002153800] Chr19:6710648 [GRCh38]
Chr19:6710659 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.774-16C>T single nucleotide variant not provided [RCV002097191] Chr19:6713525 [GRCh38]
Chr19:6713536 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3426C>T (p.Ala1142=) single nucleotide variant not provided [RCV002150621] Chr19:6690692 [GRCh38]
Chr19:6690703 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3231-4C>G single nucleotide variant not provided [RCV002075926] Chr19:6693087 [GRCh38]
Chr19:6693098 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+19C>T single nucleotide variant Age related macular degeneration 9 [RCV002508019]|not provided [RCV002132481] Chr19:6702452 [GRCh38]
Chr19:6702463 [GRCh37]
Chr19:19p13.3		 benign|likely benign
NM_000064.4(C3):c.420C>A (p.Thr140=) single nucleotide variant Age related macular degeneration 9 [RCV002499985]|not provided [RCV002115499] Chr19:6718260 [GRCh38]
Chr19:6718271 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2050G>A (p.Gly684Ser) single nucleotide variant not provided [RCV002215261] Chr19:6707271 [GRCh38]
Chr19:6707282 [GRCh37]
Chr19:19p13.3		 likely benign|conflicting interpretations of pathogenicity
NM_000064.4(C3):c.2441-7C>T single nucleotide variant Age related macular degeneration 9 [RCV002494395]|not provided [RCV002116347] Chr19:6697801 [GRCh38]
Chr19:6697812 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4746C>T (p.Arg1582=) single nucleotide variant not provided [RCV002117179] Chr19:6678256 [GRCh38]
Chr19:6678267 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3154+8C>T single nucleotide variant not provided [RCV002196412] Chr19:6694423 [GRCh38]
Chr19:6694434 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2583+10G>A single nucleotide variant not provided [RCV002096460] Chr19:6697642 [GRCh38]
Chr19:6697653 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.876+11C>G single nucleotide variant not provided [RCV002130571] Chr19:6713396 [GRCh38]
Chr19:6713407 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1053T>C (p.Ser351=) single nucleotide variant not provided [RCV002213166] Chr19:6712574 [GRCh38]
Chr19:6712585 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.510G>A (p.Pro170=) single nucleotide variant not provided [RCV002107858] Chr19:6714441 [GRCh38]
Chr19:6714452 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2079C>T (p.Cys693=) single nucleotide variant not provided [RCV002205339] Chr19:6707242 [GRCh38]
Chr19:6707253 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.876+11C>A single nucleotide variant not provided [RCV002130821] Chr19:6713396 [GRCh38]
Chr19:6713407 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4665C>G (p.Ser1555=) single nucleotide variant Age related macular degeneration 9 [RCV002494085]|not provided [RCV002192992] Chr19:6678421 [GRCh38]
Chr19:6678432 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.40C>T (p.Leu14=) single nucleotide variant not provided [RCV002170530] Chr19:6720550 [GRCh38]
Chr19:6720561 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4350+11A>G single nucleotide variant not provided [RCV002172391] Chr19:6681930 [GRCh38]
Chr19:6681941 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4456+19G>A single nucleotide variant not provided [RCV002150550] Chr19:6680139 [GRCh38]
Chr19:6680150 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1704C>G (p.Gly568=) single nucleotide variant not provided [RCV002080221] Chr19:6709825 [GRCh38]
Chr19:6709836 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1905C>T (p.Tyr635=) single nucleotide variant not provided [RCV002104710] Chr19:6707870 [GRCh38]
Chr19:6707881 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3154+9C>A single nucleotide variant not provided [RCV002113022] Chr19:6694422 [GRCh38]
Chr19:6694433 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2214C>T (p.His738=) single nucleotide variant not provided [RCV002115569] Chr19:6707107 [GRCh38]
Chr19:6707118 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1480-10G>A single nucleotide variant Age related macular degeneration 9 [RCV002498305]|not provided [RCV002094807] Chr19:6710855 [GRCh38]
Chr19:6710866 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1824G>A (p.Lys608=) single nucleotide variant not provided [RCV002197179] Chr19:6709705 [GRCh38]
Chr19:6709716 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3753C>T (p.Pro1251=) single nucleotide variant C3-related disorder [RCV003951313]|not provided [RCV002193868] Chr19:6686181 [GRCh38]
Chr19:6686192 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1845+7G>A single nucleotide variant not provided [RCV002108940] Chr19:6709677 [GRCh38]
Chr19:6709688 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4662G>A (p.Leu1554=) single nucleotide variant not provided [RCV002093827] Chr19:6678424 [GRCh38]
Chr19:6678435 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.682+13G>A single nucleotide variant not provided [RCV002101525] Chr19:6714153 [GRCh38]
Chr19:6714164 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1059C>T (p.Tyr353=) single nucleotide variant not provided [RCV002159461] Chr19:6712568 [GRCh38]
Chr19:6712579 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3564T>C (p.Thr1188=) single nucleotide variant not provided [RCV002121037] Chr19:6686828 [GRCh38]
Chr19:6686839 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.891G>A (p.Ser297=) single nucleotide variant not provided [RCV002201613] Chr19:6713301 [GRCh38]
Chr19:6713312 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1257C>T (p.Pro419=) single nucleotide variant not provided [RCV002137759] Chr19:6712269 [GRCh38]
Chr19:6712280 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.876+11C>T single nucleotide variant not provided [RCV002141395] Chr19:6713396 [GRCh38]
Chr19:6713407 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4547-16C>G single nucleotide variant Age related macular degeneration 9 [RCV002480987]|not provided [RCV002121675] Chr19:6679224 [GRCh38]
Chr19:6679235 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4546+17C>T single nucleotide variant not provided [RCV002201940] Chr19:6679390 [GRCh38]
Chr19:6679401 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3840T>C (p.Ala1280=) single nucleotide variant not provided [RCV002102345] Chr19:6685117 [GRCh38]
Chr19:6685128 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.330C>T (p.Ala110=) single nucleotide variant not provided [RCV002156795] Chr19:6718350 [GRCh38]
Chr19:6718361 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1125C>T (p.Phe375=) single nucleotide variant not provided [RCV002202566] Chr19:6712401 [GRCh38]
Chr19:6712412 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1497G>A (p.Arg499=) single nucleotide variant not provided [RCV002141912] Chr19:6710828 [GRCh38]
Chr19:6710839 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4560A>T (p.Ile1520=) single nucleotide variant not provided [RCV002142180] Chr19:6679195 [GRCh38]
Chr19:6679206 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4261-17G>A single nucleotide variant not provided [RCV002184457] Chr19:6682047 [GRCh38]
Chr19:6682058 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4547-11C>G single nucleotide variant not provided [RCV002203738] Chr19:6679219 [GRCh38]
Chr19:6679230 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1687-15C>T single nucleotide variant not provided [RCV002163316] Chr19:6709857 [GRCh38]
Chr19:6709868 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+14A>G single nucleotide variant not provided [RCV002201862] Chr19:6702457 [GRCh38]
Chr19:6702468 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2440+13G>C single nucleotide variant not provided [RCV002158442] Chr19:6702114 [GRCh38]
Chr19:6702125 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2047+7G>A single nucleotide variant Age related macular degeneration 9 [RCV002498240]|not provided [RCV002217168]|not specified [RCV003323979] Chr19:6707459 [GRCh38]
Chr19:6707470 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.987C>T (p.Thr329=) single nucleotide variant Age related macular degeneration 9 [RCV002496143]|Atypical hemolytic-uremic syndrome [RCV002294516]|not provided [RCV002204317] Chr19:6713205 [GRCh38]
Chr19:6713216 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.141C>T (p.His47=) single nucleotide variant not provided [RCV002139985] Chr19:6719337 [GRCh38]
Chr19:6719348 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4261-13C>T single nucleotide variant not provided [RCV002178434] Chr19:6682043 [GRCh38]
Chr19:6682054 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4113G>A (p.Pro1371=) single nucleotide variant not provided [RCV002144109] Chr19:6684567 [GRCh38]
Chr19:6684578 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.876+12G>T single nucleotide variant not provided [RCV002082927] Chr19:6713395 [GRCh38]
Chr19:6713406 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4719G>A (p.Ser1573=) single nucleotide variant not provided [RCV002119516] Chr19:6678283 [GRCh38]
Chr19:6678294 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4172+18C>T single nucleotide variant not provided [RCV002220365] Chr19:6684370 [GRCh38]
Chr19:6684381 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2016C>T (p.Ser672=) single nucleotide variant not provided [RCV002137447] Chr19:6707497 [GRCh38]
Chr19:6707508 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+8C>T single nucleotide variant not provided [RCV002119635] Chr19:6702463 [GRCh38]
Chr19:6702474 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2441-16G>T single nucleotide variant not provided [RCV002139394] Chr19:6697810 [GRCh38]
Chr19:6697821 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.627C>T (p.Tyr209=) single nucleotide variant not provided [RCV002180828] Chr19:6714221 [GRCh38]
Chr19:6714232 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2991G>A (p.Ala997=) single nucleotide variant Age related macular degeneration 9 [RCV002505844]|not provided [RCV002161473] Chr19:6694594 [GRCh38]
Chr19:6694605 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2796+13G>A single nucleotide variant not provided [RCV002217003] Chr19:6697331 [GRCh38]
Chr19:6697342 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3969+17_3969+29del deletion not provided [RCV002159655] Chr19:6684959..6684971 [GRCh38]
Chr19:6684970..6684982 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1920C>T (p.Ser640=) single nucleotide variant Age related macular degeneration 9 [RCV002494202]|not provided [RCV002103489] Chr19:6707855 [GRCh38]
Chr19:6707866 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2706G>A (p.Pro902=) single nucleotide variant not provided [RCV002218337] Chr19:6697434 [GRCh38]
Chr19:6697445 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.96C>T (p.Asn32=) single nucleotide variant not provided [RCV002099745] Chr19:6719382 [GRCh38]
Chr19:6719393 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2441-9C>T single nucleotide variant not provided [RCV002218829] Chr19:6697803 [GRCh38]
Chr19:6697814 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3810+9G>C single nucleotide variant not provided [RCV002220799] Chr19:6686115 [GRCh38]
Chr19:6686126 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3279C>T (p.Ile1093=) single nucleotide variant not provided [RCV002081904] Chr19:6693035 [GRCh38]
Chr19:6693046 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3693G>A (p.Glu1231=) single nucleotide variant not provided [RCV002154439] Chr19:6686241 [GRCh38]
Chr19:6686252 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1270-8C>G single nucleotide variant not provided [RCV002220909] Chr19:6711204 [GRCh38]
Chr19:6711215 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1467C>T (p.Tyr489=) single nucleotide variant not provided [RCV002175821] Chr19:6710999 [GRCh38]
Chr19:6711010 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2352T>C (p.Asn784=) single nucleotide variant not provided [RCV002183743] Chr19:6702473 [GRCh38]
Chr19:6702484 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1707G>A (p.Gln569=) single nucleotide variant not provided [RCV002138308] Chr19:6709822 [GRCh38]
Chr19:6709833 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.600-13G>A single nucleotide variant not provided [RCV002176623] Chr19:6714261 [GRCh38]
Chr19:6714272 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.459C>T (p.Asn153=) single nucleotide variant not provided [RCV002144215] Chr19:6718139 [GRCh38]
Chr19:6718150 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2950+20G>A single nucleotide variant not provided [RCV002160826] Chr19:6696359 [GRCh38]
Chr19:6696370 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3646+20G>A single nucleotide variant not provided [RCV002099357] Chr19:6686726 [GRCh38]
Chr19:6686737 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.683-4C>G single nucleotide variant Age related macular degeneration 9 [RCV002500209]|Atypical hemolytic-uremic syndrome [RCV002294512]|not provided [RCV002118805] Chr19:6714086 [GRCh38]
Chr19:6714097 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.2670C>A (p.Pro890=) single nucleotide variant not provided [RCV002180469] Chr19:6697470 [GRCh38]
Chr19:6697481 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2048-11T>A single nucleotide variant not provided [RCV002161303] Chr19:6707284 [GRCh38]
Chr19:6707295 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1854C>T (p.Asp618=) single nucleotide variant Age related macular degeneration 9 [RCV002494445]|not provided [RCV002140320] Chr19:6707921 [GRCh38]
Chr19:6707932 [GRCh37]
Chr19:19p13.3		 likely benign
NC_000019.9:g.(?_6361586)_(8212364_?)del deletion Mucolipidosis type IV [RCV003109715] Chr19:6361586..8212364 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000064.4(C3):c.4333A>G (p.Ile1445Val) single nucleotide variant not provided [RCV003115705] Chr19:6681958 [GRCh38]
Chr19:6681969 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2842G>C (p.Asp948His) single nucleotide variant not provided [RCV003115121] Chr19:6696614 [GRCh38]
Chr19:6696625 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_6718085)_(6720600_?)del deletion not provided [RCV003119234] Chr19:6718085..6720600 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_6681932)_(6690758_?)del deletion not provided [RCV003119235] Chr19:6681932..6690758 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_6692915)_(6697825_?)dup duplication not provided [RCV003119236] Chr19:6692915..6697825 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.2380T>A (p.Phe794Ile) single nucleotide variant not provided [RCV002261598] Chr19:6702187 [GRCh38]
Chr19:6702198 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1119+1G>A single nucleotide variant not provided [RCV002292977] Chr19:6712507 [GRCh38]
Chr19:6712518 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4524T>A (p.Asp1508Glu) single nucleotide variant not provided [RCV002275863] Chr19:6679429 [GRCh38]
Chr19:6679440 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1962C>T (p.Thr654=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294700] Chr19:6707813 [GRCh38]
Chr19:6707824 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2485TTC[1] (p.Phe830del) microsatellite Atypical hemolytic-uremic syndrome [RCV002294717] Chr19:6697745..6697747 [GRCh38]
Chr19:6697756..6697758 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.522G>A (p.Pro174=) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294709]|not provided [RCV003097862] Chr19:6714429 [GRCh38]
Chr19:6714440 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.268-4C>T single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294688] Chr19:6718416 [GRCh38]
Chr19:6718427 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4030-2A>G single nucleotide variant C3 deficiency [RCV003236279] Chr19:6684652 [GRCh38]
Chr19:6684663 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.3646+6G>A single nucleotide variant Kidney disorder [RCV002294620] Chr19:6686740 [GRCh38]
Chr19:6686751 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1269+4C>A single nucleotide variant Atypical hemolytic-uremic syndrome [RCV002294710]|not provided [RCV003542351] Chr19:6712253 [GRCh38]
Chr19:6712264 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4044C>T (p.Tyr1348=) single nucleotide variant not specified [RCV003151479] Chr19:6684636 [GRCh38]
Chr19:6684647 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2942T>C (p.Leu981Pro) single nucleotide variant not provided [RCV002303858] Chr19:6696387 [GRCh38]
Chr19:6696398 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1729C>T (p.Pro577Ser) single nucleotide variant not provided [RCV002299578] Chr19:6709800 [GRCh38]
Chr19:6709811 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4003_4004delinsAT (p.Glu1335Ile) indel not provided [RCV002301599] Chr19:6684800..6684801 [GRCh38]
Chr19:6684811..6684812 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3155G>A (p.Gly1052Glu) single nucleotide variant not provided [RCV002303735] Chr19:6693487 [GRCh38]
Chr19:6693498 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.670G>A (p.Val224Met) single nucleotide variant not provided [RCV002299367] Chr19:6714178 [GRCh38]
Chr19:6714189 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2186A>G (p.Asn729Ser) single nucleotide variant not provided [RCV002296413] Chr19:6707135 [GRCh38]
Chr19:6707146 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1061A>T (p.Gln354Leu) single nucleotide variant not provided [RCV002300462] Chr19:6712566 [GRCh38]
Chr19:6712577 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2626G>A (p.Ala876Thr) single nucleotide variant not provided [RCV002295067] Chr19:6697514 [GRCh38]
Chr19:6697525 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4543G>C (p.Glu1515Gln) single nucleotide variant not provided [RCV002301820] Chr19:6679410 [GRCh38]
Chr19:6679421 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3499G>C (p.Gly1167Arg) single nucleotide variant not provided [RCV002299654] Chr19:6686893 [GRCh38]
Chr19:6686904 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3935A>C (p.His1312Pro) single nucleotide variant not provided [RCV002302145] Chr19:6685022 [GRCh38]
Chr19:6685033 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2390A>T (p.Asp797Val) single nucleotide variant not provided [RCV002302185] Chr19:6702177 [GRCh38]
Chr19:6702188 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1216G>A (p.Val406Met) single nucleotide variant not provided [RCV002614066] Chr19:6712310 [GRCh38]
Chr19:6712321 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2600_2602del (p.Leu867del) deletion not provided [RCV003015518] Chr19:6697538..6697540 [GRCh38]
Chr19:6697549..6697551 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3478G>A (p.Glu1160Lys) single nucleotide variant not provided [RCV002481224] Chr19:6690640 [GRCh38]
Chr19:6690651 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.651C>A (p.Val217=) single nucleotide variant not provided [RCV003014954] Chr19:6714197 [GRCh38]
Chr19:6714208 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.745A>G (p.Lys249Glu) single nucleotide variant not provided [RCV002838463] Chr19:6714020 [GRCh38]
Chr19:6714031 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3811-8G>A single nucleotide variant not provided [RCV002730078] Chr19:6685154 [GRCh38]
Chr19:6685165 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4851-1G>A single nucleotide variant not provided [RCV002994954] Chr19:6678024 [GRCh38]
Chr19:6678035 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.75-12C>G single nucleotide variant not provided [RCV002995392] Chr19:6719415 [GRCh38]
Chr19:6719426 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2230C>G (p.Leu744Val) single nucleotide variant not provided [RCV003033110] Chr19:6707091 [GRCh38]
Chr19:6707102 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1479+8G>A single nucleotide variant not provided [RCV002837519] Chr19:6710979 [GRCh38]
Chr19:6710990 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.341C>T (p.Thr114Ile) single nucleotide variant not provided [RCV002614677] Chr19:6718339 [GRCh38]
Chr19:6718350 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4352T>C (p.Val1451Ala) single nucleotide variant Inborn genetic diseases [RCV002728261] Chr19:6680262 [GRCh38]
Chr19:6680273 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3106A>G (p.Lys1036Glu) single nucleotide variant not provided [RCV002967484] Chr19:6694479 [GRCh38]
Chr19:6694490 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1647C>T (p.Asp549=) single nucleotide variant not provided [RCV002967485] Chr19:6710678 [GRCh38]
Chr19:6710689 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3230+19C>T single nucleotide variant not provided [RCV002880966] Chr19:6693393 [GRCh38]
Chr19:6693404 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4268A>G (p.Asn1423Ser) single nucleotide variant C3-related disorder [RCV004750805]|not provided [RCV003016186] Chr19:6682023 [GRCh38]
Chr19:6682034 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2640G>A (p.Arg880=) single nucleotide variant not provided [RCV002866072] Chr19:6697500 [GRCh38]
Chr19:6697511 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.600-7C>T single nucleotide variant not provided [RCV002838314] Chr19:6714255 [GRCh38]
Chr19:6714266 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2228A>G (p.His743Arg) single nucleotide variant not provided [RCV002690276] Chr19:6707093 [GRCh38]
Chr19:6707104 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1335C>T (p.Pro445=) single nucleotide variant not provided [RCV003035009] Chr19:6711131 [GRCh38]
Chr19:6711142 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4371C>G (p.Asp1457Glu) single nucleotide variant Inborn genetic diseases [RCV002883699] Chr19:6680243 [GRCh38]
Chr19:6680254 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.135G>A (p.Glu45=) single nucleotide variant not provided [RCV002991444] Chr19:6719343 [GRCh38]
Chr19:6719354 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2681dup (p.Leu894fs) duplication not provided [RCV003034160] Chr19:6697458..6697459 [GRCh38]
Chr19:6697469..6697470 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4838G>T (p.Gly1613Val) single nucleotide variant not provided [RCV002636086] Chr19:6678164 [GRCh38]
Chr19:6678175 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1845G>A (p.Lys615=) single nucleotide variant not provided [RCV003011719] Chr19:6709684 [GRCh38]
Chr19:6709695 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3209T>C (p.Val1070Ala) single nucleotide variant not provided [RCV002843708] Chr19:6693433 [GRCh38]
Chr19:6693444 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.737A>G (p.Tyr246Cys) single nucleotide variant not provided [RCV002908797] Chr19:6714028 [GRCh38]
Chr19:6714039 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1442G>C (p.Arg481Pro) single nucleotide variant not provided [RCV003016815] Chr19:6711024 [GRCh38]
Chr19:6711035 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.876+7T>A single nucleotide variant not provided [RCV002815757] Chr19:6713400 [GRCh38]
Chr19:6713411 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4631T>C (p.Val1544Ala) single nucleotide variant not provided [RCV002681319] Chr19:6678455 [GRCh38]
Chr19:6678466 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3970-19C>A single nucleotide variant not provided [RCV002726473] Chr19:6684853 [GRCh38]
Chr19:6684864 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3154+18C>T single nucleotide variant not provided [RCV002613841] Chr19:6694413 [GRCh38]
Chr19:6694424 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.267+9A>T single nucleotide variant not provided [RCV003012119] Chr19:6719202 [GRCh38]
Chr19:6719213 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4725G>C (p.Glu1575Asp) single nucleotide variant not provided [RCV002771452] Chr19:6678277 [GRCh38]
Chr19:6678288 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4479C>T (p.Tyr1493=) single nucleotide variant not provided [RCV003016001] Chr19:6679474 [GRCh38]
Chr19:6679485 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4870A>T (p.Lys1624Ter) single nucleotide variant not provided [RCV002511913] Chr19:6678004 [GRCh38]
Chr19:6678015 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.910C>T (p.Arg304Trp) single nucleotide variant not provided [RCV002616595] Chr19:6713282 [GRCh38]
Chr19:6713293 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp) single nucleotide variant Age related macular degeneration 9 [RCV003147781]|Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003147780]|Complement component 3 deficiency [RCV003147782]|not provided [RCV002685470] Chr19:6678007 [GRCh38]
Chr19:6678018 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.481C>G (p.Arg161Gly) single nucleotide variant not provided [RCV002726953] Chr19:6718117 [GRCh38]
Chr19:6718128 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4121-17C>G single nucleotide variant not provided [RCV003034264] Chr19:6684456 [GRCh38]
Chr19:6684467 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4716C>T (p.Gly1572=) single nucleotide variant not provided [RCV002996248] Chr19:6678286 [GRCh38]
Chr19:6678297 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1530C>T (p.Pro510=) single nucleotide variant not provided [RCV002618513] Chr19:6710795 [GRCh38]
Chr19:6710806 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1354T>A (p.Ser452Thr) single nucleotide variant not provided [RCV003034669] Chr19:6711112 [GRCh38]
Chr19:6711123 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.682G>A (p.Val228Met) single nucleotide variant not provided [RCV002755142] Chr19:6714166 [GRCh38]
Chr19:6714177 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1463G>C (p.Arg488Pro) single nucleotide variant not provided [RCV002996314] Chr19:6711003 [GRCh38]
Chr19:6711014 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4922A>G (p.Glu1641Gly) single nucleotide variant not provided [RCV002886593] Chr19:6677952 [GRCh38]
Chr19:6677963 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2666C>A (p.Pro889His) single nucleotide variant not provided [RCV002640360] Chr19:6697474 [GRCh38]
Chr19:6697485 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4546+8C>T single nucleotide variant not provided [RCV002663169] Chr19:6679399 [GRCh38]
Chr19:6679410 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1975+14C>A single nucleotide variant not provided [RCV002871595] Chr19:6707786 [GRCh38]
Chr19:6707797 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4117A>G (p.Thr1373Ala) single nucleotide variant not provided [RCV002593235] Chr19:6684563 [GRCh38]
Chr19:6684574 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1120-17T>G single nucleotide variant not provided [RCV002871378] Chr19:6712423 [GRCh38]
Chr19:6712434 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3154+16C>T single nucleotide variant not provided [RCV002871548] Chr19:6694415 [GRCh38]
Chr19:6694426 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3060C>T (p.Pro1020=) single nucleotide variant not provided [RCV002662729] Chr19:6694525 [GRCh38]
Chr19:6694536 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2385G>C (p.Leu795Phe) single nucleotide variant not provided [RCV002824558] Chr19:6702182 [GRCh38]
Chr19:6702193 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2794G>A (p.Val932Met) single nucleotide variant not provided [RCV002571727] Chr19:6697346 [GRCh38]
Chr19:6697357 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3667C>T (p.Pro1223Ser) single nucleotide variant Inborn genetic diseases [RCV002592997]|not provided [RCV002592996] Chr19:6686267 [GRCh38]
Chr19:6686278 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1746C>A (p.Thr582=) single nucleotide variant not provided [RCV003039313] Chr19:6709783 [GRCh38]
Chr19:6709794 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4905C>T (p.Asp1635=) single nucleotide variant not provided [RCV002619795] Chr19:6677969 [GRCh38]
Chr19:6677980 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4261-11C>G single nucleotide variant not provided [RCV003055454] Chr19:6682041 [GRCh38]
Chr19:6682052 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2346G>A (p.Pro782=) single nucleotide variant not provided [RCV002800236] Chr19:6702479 [GRCh38]
Chr19:6702490 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.268-6G>A single nucleotide variant not provided [RCV002593150] Chr19:6718418 [GRCh38]
Chr19:6718429 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2025C>T (p.Leu675=) single nucleotide variant not provided [RCV003053888] Chr19:6707488 [GRCh38]
Chr19:6707499 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3848A>G (p.Gln1283Arg) single nucleotide variant not provided [RCV003036226] Chr19:6685109 [GRCh38]
Chr19:6685120 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.44C>G (p.Thr15Ser) single nucleotide variant not provided [RCV002948670] Chr19:6720546 [GRCh38]
Chr19:6720557 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4379C>G (p.Ala1460Gly) single nucleotide variant not provided [RCV002979459] Chr19:6680235 [GRCh38]
Chr19:6680246 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.215A>G (p.Glu72Gly) single nucleotide variant not provided [RCV002705760] Chr19:6719263 [GRCh38]
Chr19:6719274 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3810+9G>A single nucleotide variant not provided [RCV002998749] Chr19:6686115 [GRCh38]
Chr19:6686126 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.164T>C (p.Val55Ala) single nucleotide variant not provided [RCV003080109] Chr19:6719314 [GRCh38]
Chr19:6719325 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.641C>T (p.Pro214Leu) single nucleotide variant not provided [RCV002912627] Chr19:6714207 [GRCh38]
Chr19:6714218 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1479+4C>T single nucleotide variant not provided [RCV002999775] Chr19:6710983 [GRCh38]
Chr19:6710994 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4851-18T>C single nucleotide variant not provided [RCV002621825] Chr19:6678041 [GRCh38]
Chr19:6678052 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1433G>A (p.Arg478Gln) single nucleotide variant not provided [RCV003038041] Chr19:6711033 [GRCh38]
Chr19:6711044 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.773+15G>A single nucleotide variant not provided [RCV003036895] Chr19:6713977 [GRCh38]
Chr19:6713988 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV003079227] Chr19:6718334 [GRCh38]
Chr19:6718345 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.522G>T (p.Pro174=) single nucleotide variant not provided [RCV002761412] Chr19:6714429 [GRCh38]
Chr19:6714440 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2915C>T (p.Pro972Leu) single nucleotide variant not provided [RCV002999654] Chr19:6696414 [GRCh38]
Chr19:6696425 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2705C>T (p.Pro902Leu) single nucleotide variant C3-related disorder [RCV004750808]|not provided [RCV003077301] Chr19:6697435 [GRCh38]
Chr19:6697446 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4178G>A (p.Arg1393Gln) single nucleotide variant Inborn genetic diseases [RCV002739002]|not provided [RCV003778607] Chr19:6682224 [GRCh38]
Chr19:6682235 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4789G>C (p.Glu1597Gln) single nucleotide variant not provided [RCV002824877] Chr19:6678213 [GRCh38]
Chr19:6678224 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3656G>A (p.Arg1219His) single nucleotide variant not provided [RCV003079225] Chr19:6686278 [GRCh38]
Chr19:6686289 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1263C>T (p.Ser421=) single nucleotide variant not provided [RCV002591397] Chr19:6712263 [GRCh38]
Chr19:6712274 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2506C>T (p.Pro836Ser) single nucleotide variant not provided [RCV002640127] Chr19:6697729 [GRCh38]
Chr19:6697740 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1976-28TCT[2] microsatellite not provided [RCV002570221] Chr19:6707557..6707559 [GRCh38]
Chr19:6707568..6707570 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3761G>A (p.Arg1254His) single nucleotide variant Inborn genetic diseases [RCV002739107]|not provided [RCV003720750] Chr19:6686173 [GRCh38]
Chr19:6686184 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2584-13C>T single nucleotide variant not provided [RCV002797163] Chr19:6697569 [GRCh38]
Chr19:6697580 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1976A>T (p.Glu659Val) single nucleotide variant not provided [RCV003054186] Chr19:6707537 [GRCh38]
Chr19:6707548 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.504+12A>T single nucleotide variant not provided [RCV002570075] Chr19:6718082 [GRCh38]
Chr19:6718093 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1527G>A (p.Glu509=) single nucleotide variant not provided [RCV003037600] Chr19:6710798 [GRCh38]
Chr19:6710809 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2373G>A (p.Met791Ile) single nucleotide variant not provided [RCV002591995] Chr19:6702194 [GRCh38]
Chr19:6702205 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1963G>A (p.Ala655Thr) single nucleotide variant Inborn genetic diseases [RCV002739003] Chr19:6707812 [GRCh38]
Chr19:6707823 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1099G>A (p.Gly367Arg) single nucleotide variant not provided [RCV002820482] Chr19:6712528 [GRCh38]
Chr19:6712539 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2864-19TC[2] microsatellite not provided [RCV002571689] Chr19:6696479..6696480 [GRCh38]
Chr19:6696490..6696491 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1147C>G (p.Pro383Ala) single nucleotide variant not provided [RCV002796216] Chr19:6712379 [GRCh38]
Chr19:6712390 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3614C>T (p.Pro1205Leu) single nucleotide variant not provided [RCV003020165] Chr19:6686778 [GRCh38]
Chr19:6686789 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1924G>A (p.Ala642Thr) single nucleotide variant not provided [RCV003021024] Chr19:6707851 [GRCh38]
Chr19:6707862 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4330C>T (p.Leu1444Phe) single nucleotide variant not provided [RCV003036390] Chr19:6681961 [GRCh38]
Chr19:6681972 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2745_2746inv (p.Val916Ile) inversion not provided [RCV002785258] Chr19:6697394..6697395 [GRCh38]
Chr19:6697405..6697406 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2647C>G (p.Gln883Glu) single nucleotide variant not provided [RCV003017837] Chr19:6697493 [GRCh38]
Chr19:6697504 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4251C>T (p.Asp1417=) single nucleotide variant not provided [RCV003055172] Chr19:6682151 [GRCh38]
Chr19:6682162 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3811-18C>T single nucleotide variant not provided [RCV002667447] Chr19:6685164 [GRCh38]
Chr19:6685175 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3155-13C>T single nucleotide variant not provided [RCV002701318] Chr19:6693500 [GRCh38]
Chr19:6693511 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1791C>T (p.Ala597=) single nucleotide variant not provided [RCV002667137] Chr19:6709738 [GRCh38]
Chr19:6709749 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2950+15del deletion not provided [RCV002740912] Chr19:6696364 [GRCh38]
Chr19:6696375 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3440T>G (p.Val1147Gly) single nucleotide variant not provided [RCV002572699] Chr19:6690678 [GRCh38]
Chr19:6690689 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3804T>C (p.Ser1268=) single nucleotide variant not provided [RCV002627047] Chr19:6686130 [GRCh38]
Chr19:6686141 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4219A>G (p.Met1407Val) single nucleotide variant not provided [RCV003055858] Chr19:6682183 [GRCh38]
Chr19:6682194 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.712C>G (p.Pro238Ala) single nucleotide variant not provided [RCV002876445] Chr19:6714053 [GRCh38]
Chr19:6714064 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1644C>G (p.Ala548=) single nucleotide variant not provided [RCV002667337] Chr19:6710681 [GRCh38]
Chr19:6710692 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1730C>T (p.Pro577Leu) single nucleotide variant not provided [RCV003022740] Chr19:6709799 [GRCh38]
Chr19:6709810 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.773+8A>C single nucleotide variant not provided [RCV002790227] Chr19:6713984 [GRCh38]
Chr19:6713995 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.474C>T (p.Pro158=) single nucleotide variant not provided [RCV002741638] Chr19:6718124 [GRCh38]
Chr19:6718135 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.968C>T (p.Ser323Phe) single nucleotide variant not provided [RCV002642507] Chr19:6713224 [GRCh38]
Chr19:6713235 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.654C>T (p.Phe218=) single nucleotide variant not provided [RCV003058149] Chr19:6714194 [GRCh38]
Chr19:6714205 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3646+15G>A single nucleotide variant not provided [RCV002800789] Chr19:6686731 [GRCh38]
Chr19:6686742 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2562C>T (p.Tyr854=) single nucleotide variant not provided [RCV002871729] Chr19:6697673 [GRCh38]
Chr19:6697684 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3152A>C (p.Lys1051Thr) single nucleotide variant Inborn genetic diseases [RCV002850127] Chr19:6694433 [GRCh38]
Chr19:6694444 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4513C>T (p.Leu1505Phe) single nucleotide variant not provided [RCV002710842] Chr19:6679440 [GRCh38]
Chr19:6679451 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3207C>T (p.Phe1069=) single nucleotide variant not provided [RCV002595584] Chr19:6693435 [GRCh38]
Chr19:6693446 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.504+8C>A single nucleotide variant not provided [RCV002871818] Chr19:6718086 [GRCh38]
Chr19:6718097 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.831T>G (p.Asp277Glu) single nucleotide variant not provided [RCV002954065] Chr19:6713452 [GRCh38]
Chr19:6713463 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1392G>C (p.Glu464Asp) single nucleotide variant Inborn genetic diseases [RCV002875264] Chr19:6711074 [GRCh38]
Chr19:6711085 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3879C>T (p.Asn1293=) single nucleotide variant not provided [RCV002625533] Chr19:6685078 [GRCh38]
Chr19:6685089 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.433+14C>T single nucleotide variant not provided [RCV002666617] Chr19:6718233 [GRCh38]
Chr19:6718244 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4784A>G (p.Lys1595Arg) single nucleotide variant not provided [RCV003023172] Chr19:6678218 [GRCh38]
Chr19:6678229 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.659C>A (p.Thr220Asn) single nucleotide variant not provided [RCV002828644] Chr19:6714189 [GRCh38]
Chr19:6714200 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2264T>C (p.Ile755Thr) single nucleotide variant Inborn genetic diseases [RCV002892235] Chr19:6702561 [GRCh38]
Chr19:6702572 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4900G>A (p.Glu1634Lys) single nucleotide variant not provided [RCV002701107] Chr19:6677974 [GRCh38]
Chr19:6677985 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1651G>A (p.Val551Met) single nucleotide variant not provided [RCV002572849] Chr19:6710674 [GRCh38]
Chr19:6710685 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2047+8C>G single nucleotide variant not provided [RCV002850854] Chr19:6707458 [GRCh38]
Chr19:6707469 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.505-17C>T single nucleotide variant not provided [RCV002830147] Chr19:6714463 [GRCh38]
Chr19:6714474 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4715-15_4715-14delinsAA indel not provided [RCV002894082] Chr19:6678301..6678302 [GRCh38]
Chr19:6678312..6678313 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.268-11C>A single nucleotide variant not provided [RCV003059435] Chr19:6718423 [GRCh38]
Chr19:6718434 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3155-7T>C single nucleotide variant not provided [RCV002711506] Chr19:6693494 [GRCh38]
Chr19:6693505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3155-18C>T single nucleotide variant not provided [RCV003023229] Chr19:6693505 [GRCh38]
Chr19:6693516 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3489+16C>A single nucleotide variant not provided [RCV002765490] Chr19:6690613 [GRCh38]
Chr19:6690624 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1837C>G (p.Gln613Glu) single nucleotide variant not provided [RCV003025741] Chr19:6709692 [GRCh38]
Chr19:6709703 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3846C>T (p.Tyr1282=) single nucleotide variant not provided [RCV002871817] Chr19:6685111 [GRCh38]
Chr19:6685122 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3492C>T (p.Ser1164=) single nucleotide variant not provided [RCV003025289] Chr19:6686900 [GRCh38]
Chr19:6686911 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2686G>A (p.Val896Ile) single nucleotide variant not provided [RCV003084699] Chr19:6697454 [GRCh38]
Chr19:6697465 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.499A>T (p.Ile167Phe) single nucleotide variant not provided [RCV002594244] Chr19:6718099 [GRCh38]
Chr19:6718110 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1270-8C>T single nucleotide variant not provided [RCV002894294] Chr19:6711204 [GRCh38]
Chr19:6711215 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1300_1301delinsTT (p.Ala434Leu) indel not provided [RCV002851023] Chr19:6711165..6711166 [GRCh38]
Chr19:6711176..6711177 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3789T>C (p.Gly1263=) single nucleotide variant not provided [RCV002871628] Chr19:6686145 [GRCh38]
Chr19:6686156 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2567A>G (p.Gln856Arg) single nucleotide variant C3-related disorder [RCV003916487]|not provided [RCV002572762] Chr19:6697668 [GRCh38]
Chr19:6697679 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3155-3C>A single nucleotide variant not provided [RCV002741566] Chr19:6693490 [GRCh38]
Chr19:6693501 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2797-21_2797-19del deletion not provided [RCV002676268] Chr19:6696678..6696680 [GRCh38]
Chr19:6696689..6696691 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4170C>G (p.Thr1390=) single nucleotide variant not provided [RCV003065675] Chr19:6684390 [GRCh38]
Chr19:6684401 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.599+4T>C single nucleotide variant not provided [RCV003061965] Chr19:6714348 [GRCh38]
Chr19:6714359 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.533A>G (p.Asp178Gly) single nucleotide variant not provided [RCV002577732] Chr19:6714418 [GRCh38]
Chr19:6714429 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1833G>A (p.Leu611=) single nucleotide variant not provided [RCV002580911] Chr19:6709696 [GRCh38]
Chr19:6709707 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4353C>T (p.Val1451=) single nucleotide variant not provided [RCV002675538] Chr19:6680261 [GRCh38]
Chr19:6680272 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3075G>C (p.Val1025=) single nucleotide variant not provided [RCV002581607] Chr19:6694510 [GRCh38]
Chr19:6694521 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1397G>T (p.Arg466Ile) single nucleotide variant not provided [RCV002597436] Chr19:6711069 [GRCh38]
Chr19:6711080 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.988G>A (p.Val330Ile) single nucleotide variant not provided [RCV003061631] Chr19:6713204 [GRCh38]
Chr19:6713215 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2364G>A (p.Thr788=) single nucleotide variant not provided [RCV003063363] Chr19:6702203 [GRCh38]
Chr19:6702214 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4569G>A (p.Ser1523=) single nucleotide variant not provided [RCV002602133] Chr19:6679186 [GRCh38]
Chr19:6679197 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2245+14G>T single nucleotide variant not provided [RCV002856180] Chr19:6707062 [GRCh38]
Chr19:6707073 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2245+17G>A single nucleotide variant not provided [RCV002899319] Chr19:6707059 [GRCh38]
Chr19:6707070 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.88A>G (p.Thr30Ala) single nucleotide variant not provided [RCV003027640] Chr19:6719390 [GRCh38]
Chr19:6719401 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2283C>T (p.Ile761=) single nucleotide variant not provided [RCV002599909] Chr19:6702542 [GRCh38]
Chr19:6702553 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2656G>A (p.Val886Ile) single nucleotide variant not provided [RCV002938208] Chr19:6697484 [GRCh38]
Chr19:6697495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4139C>T (p.Ala1380Val) single nucleotide variant not provided [RCV003009478] Chr19:6684421 [GRCh38]
Chr19:6684432 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4862T>G (p.Ile1621Ser) single nucleotide variant not provided [RCV003011431] Chr19:6678012 [GRCh38]
Chr19:6678023 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2176G>A (p.Asp726Asn) single nucleotide variant not provided [RCV003027011] Chr19:6707145 [GRCh38]
Chr19:6707156 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2246-9_2246-8delinsTT indel not provided [RCV003009522] Chr19:6702587..6702588 [GRCh38]
Chr19:6702598..6702599 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1846-7C>T single nucleotide variant not provided [RCV002645822] Chr19:6707936 [GRCh38]
Chr19:6707947 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3231-18G>C single nucleotide variant not provided [RCV002876873] Chr19:6693101 [GRCh38]
Chr19:6693112 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2157G>C (p.Ala719=) single nucleotide variant not provided [RCV002988861] Chr19:6707164 [GRCh38]
Chr19:6707175 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1296G>T (p.Ser432=) single nucleotide variant not provided [RCV002716115] Chr19:6711170 [GRCh38]
Chr19:6711181 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4851-8C>G single nucleotide variant not provided [RCV003044621] Chr19:6678031 [GRCh38]
Chr19:6678042 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.485C>G (p.Thr162Arg) single nucleotide variant not provided [RCV003064537] Chr19:6718113 [GRCh38]
Chr19:6718124 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.310A>G (p.Lys104Glu) single nucleotide variant not provided [RCV003064538] Chr19:6718370 [GRCh38]
Chr19:6718381 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4947C>T (p.Leu1649=) single nucleotide variant Age related macular degeneration 9 [RCV003224639]|not provided [RCV002962217] Chr19:6677927 [GRCh38]
Chr19:6677938 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4148C>T (p.Thr1383Ile) single nucleotide variant not provided [RCV003046427] Chr19:6684412 [GRCh38]
Chr19:6684423 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.388C>G (p.Leu130Val) single nucleotide variant not provided [RCV002631208] Chr19:6718292 [GRCh38]
Chr19:6718303 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4121-5T>C single nucleotide variant not provided [RCV003062052] Chr19:6684444 [GRCh38]
Chr19:6684455 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3551A>G (p.Gln1184Arg) single nucleotide variant not provided [RCV003009388] Chr19:6686841 [GRCh38]
Chr19:6686852 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3183A>T (p.Gln1061His) single nucleotide variant not provided [RCV002938117] Chr19:6693459 [GRCh38]
Chr19:6693470 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2575G>A (p.Glu859Lys) single nucleotide variant not provided [RCV002834204] Chr19:6697660 [GRCh38]
Chr19:6697671 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3111C>T (p.Phe1037=) single nucleotide variant not provided [RCV002645970] Chr19:6694474 [GRCh38]
Chr19:6694485 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1332G>C (p.Leu444=) single nucleotide variant not provided [RCV002650433] Chr19:6711134 [GRCh38]
Chr19:6711145 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3697A>C (p.Thr1233Pro) single nucleotide variant not provided [RCV002631779] Chr19:6686237 [GRCh38]
Chr19:6686248 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2863+7_2863+8insCCACCGTG insertion not provided [RCV003009182] Chr19:6696585..6696586 [GRCh38]
Chr19:6696596..6696597 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.21C>A (p.Pro7=) single nucleotide variant not provided [RCV002598477] Chr19:6720569 [GRCh38]
Chr19:6720580 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1044C>T (p.Ile348=) single nucleotide variant not provided [RCV002580910] Chr19:6712583 [GRCh38]
Chr19:6712594 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4083C>T (p.Phe1361=) single nucleotide variant not provided [RCV003086745] Chr19:6684597 [GRCh38]
Chr19:6684608 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2370C>T (p.Leu790=) single nucleotide variant not provided [RCV002715467] Chr19:6702197 [GRCh38]
Chr19:6702208 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4440C>T (p.Tyr1480=) single nucleotide variant not provided [RCV002628902] Chr19:6680174 [GRCh38]
Chr19:6680185 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1407G>T (p.Glu469Asp) single nucleotide variant not provided [RCV002597435] Chr19:6711059 [GRCh38]
Chr19:6711070 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2217G>A (p.Ala739=) single nucleotide variant not provided [RCV002963403] Chr19:6707104 [GRCh38]
Chr19:6707115 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4789GAG[1] (p.Glu1598del) microsatellite not provided [RCV002806199] Chr19:6678208..6678210 [GRCh38]
Chr19:6678219..6678221 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4093G>A (p.Val1365Ile) single nucleotide variant not provided [RCV003047413] Chr19:6684587 [GRCh38]
Chr19:6684598 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2355-15C>G single nucleotide variant not provided [RCV002650370] Chr19:6702227 [GRCh38]
Chr19:6702238 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.773+11G>A single nucleotide variant not provided [RCV002631913] Chr19:6713981 [GRCh38]
Chr19:6713992 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.393C>T (p.Phe131=) single nucleotide variant not provided [RCV002576723] Chr19:6718287 [GRCh38]
Chr19:6718298 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4547-14A>C single nucleotide variant not provided [RCV002717055] Chr19:6679222 [GRCh38]
Chr19:6679233 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2373G>T (p.Met791Ile) single nucleotide variant not provided [RCV002922794] Chr19:6702194 [GRCh38]
Chr19:6702205 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2950+2T>G single nucleotide variant not provided [RCV002899311] Chr19:6696377 [GRCh38]
Chr19:6696388 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.381C>T (p.Ser127=) single nucleotide variant not provided [RCV002650469] Chr19:6718299 [GRCh38]
Chr19:6718310 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2584-20A>C single nucleotide variant not provided [RCV002856501] Chr19:6697576 [GRCh38]
Chr19:6697587 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4472G>A (p.Arg1491Gln) single nucleotide variant not provided [RCV003087522] Chr19:6679481 [GRCh38]
Chr19:6679492 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1157_1158delinsAG (p.Arg386Gln) indel not provided [RCV002938323] Chr19:6712368..6712369 [GRCh38]
Chr19:6712379..6712380 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.268-5_268-4delinsAA indel not provided [RCV003026701] Chr19:6718416..6718417 [GRCh38]
Chr19:6718427..6718428 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1269+13C>T single nucleotide variant not provided [RCV002601531] Chr19:6712244 [GRCh38]
Chr19:6712255 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3969+20C>G single nucleotide variant not provided [RCV002922281] Chr19:6684968 [GRCh38]
Chr19:6684979 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2048-18G>A single nucleotide variant not provided [RCV002580082] Chr19:6707291 [GRCh38]
Chr19:6707302 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4547A>C (p.Glu1516Ala) single nucleotide variant not provided [RCV002676198] Chr19:6679208 [GRCh38]
Chr19:6679219 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3563C>T (p.Thr1188Ile) single nucleotide variant Inborn genetic diseases [RCV004603221]|not provided [RCV002715517] Chr19:6686829 [GRCh38]
Chr19:6686840 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.890C>T (p.Ser297Leu) single nucleotide variant not provided [RCV002676710] Chr19:6713302 [GRCh38]
Chr19:6713313 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2701G>A (p.Val901Met) single nucleotide variant C3-related disorder [RCV004750757]|not provided [RCV002658053] Chr19:6697439 [GRCh38]
Chr19:6697450 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1998C>T (p.Ala666=) single nucleotide variant not provided [RCV003069835] Chr19:6707515 [GRCh38]
Chr19:6707526 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.792A>G (p.Lys264=) single nucleotide variant not provided [RCV002676938] Chr19:6713491 [GRCh38]
Chr19:6713502 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.267+17G>A single nucleotide variant not provided [RCV002583782] Chr19:6719194 [GRCh38]
Chr19:6719205 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1955A>C (p.Gln652Pro) single nucleotide variant Inborn genetic diseases [RCV004603309]|not provided [RCV002654841] Chr19:6707820 [GRCh38]
Chr19:6707831 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.168T>C (p.Thr56=) single nucleotide variant not provided [RCV002605078] Chr19:6719310 [GRCh38]
Chr19:6719321 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4843A>G (p.Lys1615Glu) single nucleotide variant not provided [RCV002603919] Chr19:6678159 [GRCh38]
Chr19:6678170 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4784A>T (p.Lys1595Met) single nucleotide variant not provided [RCV002653579] Chr19:6678218 [GRCh38]
Chr19:6678229 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.773+10T>G single nucleotide variant not provided [RCV003052345] Chr19:6713982 [GRCh38]
Chr19:6713993 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3969+4C>T single nucleotide variant not provided [RCV002654423] Chr19:6684984 [GRCh38]
Chr19:6684995 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1602C>A (p.Tyr534Ter) single nucleotide variant not provided [RCV003049689] Chr19:6710723 [GRCh38]
Chr19:6710734 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4800A>T (p.Lys1600Asn) single nucleotide variant not provided [RCV002585172] Chr19:6678202 [GRCh38]
Chr19:6678213 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.774-5C>G single nucleotide variant not provided [RCV002603097] Chr19:6713514 [GRCh38]
Chr19:6713525 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3403AAC[2] (p.Asn1137del) microsatellite not provided [RCV002605579] Chr19:6690707..6690709 [GRCh38]
Chr19:6690718..6690720 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3124C>G (p.Arg1042Gly) single nucleotide variant not provided [RCV003050514] Chr19:6694461 [GRCh38]
Chr19:6694472 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1692_1693delinsAC (p.Val565Leu) indel not provided [RCV002605180] Chr19:6709836..6709837 [GRCh38]
Chr19:6709847..6709848 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1294T>C (p.Ser432Pro) single nucleotide variant not provided [RCV002607656] Chr19:6711172 [GRCh38]
Chr19:6711183 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1909G>A (p.Gly637Ser) single nucleotide variant not provided [RCV002587097] Chr19:6707866 [GRCh38]
Chr19:6707877 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1614C>T (p.Ile538=) single nucleotide variant not provided [RCV002585293] Chr19:6710711 [GRCh38]
Chr19:6710722 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.115G>A (p.Glu39Lys) single nucleotide variant not provided [RCV002607910] Chr19:6719363 [GRCh38]
Chr19:6719374 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2833C>T (p.Arg945Cys) single nucleotide variant Inborn genetic diseases [RCV004070357]|not provided [RCV003071197] Chr19:6696623 [GRCh38]
Chr19:6696634 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.75-13C>T single nucleotide variant not provided [RCV002814540] Chr19:6719416 [GRCh38]
Chr19:6719427 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.836A>C (p.Glu279Ala) single nucleotide variant not provided [RCV002607479] Chr19:6713447 [GRCh38]
Chr19:6713458 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1345G>T (p.Val449Leu) single nucleotide variant not provided [RCV002611065] Chr19:6711121 [GRCh38]
Chr19:6711132 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.95A>T (p.Asn32Ile) single nucleotide variant Inborn genetic diseases [RCV003308186]|not provided [RCV002634904] Chr19:6719383 [GRCh38]
Chr19:6719394 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1615G>C (p.Gly539Arg) single nucleotide variant not provided [RCV002657798] Chr19:6710710 [GRCh38]
Chr19:6710721 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2797-4G>A single nucleotide variant not provided [RCV002609461] Chr19:6696663 [GRCh38]
Chr19:6696674 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4093G>T (p.Val1365Phe) single nucleotide variant not provided [RCV002680969] Chr19:6684587 [GRCh38]
Chr19:6684598 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2501G>A (p.Arg834Gln) single nucleotide variant not provided [RCV002681052] Chr19:6697734 [GRCh38]
Chr19:6697745 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1537G>A (p.Asp513Asn) single nucleotide variant Inborn genetic diseases [RCV002589449]|not provided [RCV002589450] Chr19:6710788 [GRCh38]
Chr19:6710799 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.71C>T (p.Pro24Leu) single nucleotide variant not provided [RCV002604140] Chr19:6720519 [GRCh38]
Chr19:6720530 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3744T>C (p.Phe1248=) single nucleotide variant not provided [RCV003050841] Chr19:6686190 [GRCh38]
Chr19:6686201 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3489+2T>C single nucleotide variant Complement component 3 deficiency [RCV003140518] Chr19:6690627 [GRCh38]
Chr19:6690638 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.1125C>A (p.Phe375Leu) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003319147] Chr19:6712401 [GRCh38]
Chr19:6712412 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3326T>G (p.Leu1109Arg) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003326724] Chr19:6692988 [GRCh38]
Chr19:6692999 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1146T>C (p.Ser382=) single nucleotide variant not provided [RCV003852887] Chr19:6712380 [GRCh38]
Chr19:6712391 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1769G>C (p.Gly590Ala) single nucleotide variant not specified [RCV003331883] Chr19:6709760 [GRCh38]
Chr19:6709771 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4156C>T (p.Leu1386Phe) single nucleotide variant C3-related disorder [RCV003420827] Chr19:6684404 [GRCh38]
Chr19:6684415 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3277A>G (p.Ile1093Val) single nucleotide variant Inborn genetic diseases [RCV003362328] Chr19:6693037 [GRCh38]
Chr19:6693048 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2650C>A (p.Gln884Lys) single nucleotide variant Inborn genetic diseases [RCV003374468] Chr19:6697490 [GRCh38]
Chr19:6697501 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3214C>T (p.Arg1072Trp) single nucleotide variant not provided [RCV003873439] Chr19:6693428 [GRCh38]
Chr19:6693439 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2245+9del deletion not provided [RCV003691939] Chr19:6707067 [GRCh38]
Chr19:6707078 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3155-17CT[3] microsatellite not provided [RCV003875643] Chr19:6693497..6693498 [GRCh38]
Chr19:6693508..6693509 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.434-15T>C single nucleotide variant not provided [RCV003569786] Chr19:6718179 [GRCh38]
Chr19:6718190 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3811-13T>G single nucleotide variant not provided [RCV003875310] Chr19:6685159 [GRCh38]
Chr19:6685170 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1270-16del deletion not provided [RCV003875326] Chr19:6711212 [GRCh38]
Chr19:6711223 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1531G>A (p.Gly511Ser) single nucleotide variant not provided [RCV003874443] Chr19:6710794 [GRCh38]
Chr19:6710805 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1618G>A (p.Ala540Thr) single nucleotide variant not provided [RCV003543818] Chr19:6710707 [GRCh38]
Chr19:6710718 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2479C>T (p.Gln827Ter) single nucleotide variant not provided [RCV003686114] Chr19:6697756 [GRCh38]
Chr19:6697767 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.3813dup (p.Thr1272fs) duplication Complement component 3 deficiency [RCV003486307] Chr19:6685143..6685144 [GRCh38]
Chr19:6685154..6685155 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
NM_000064.4(C3):c.1021G>A (p.Ala341Thr) single nucleotide variant C3-related disorder [RCV003402906] Chr19:6712606 [GRCh38]
Chr19:6712617 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2246-18_2246-17delinsTT indel not provided [RCV003699118]|not specified [RCV003479814] Chr19:6702596..6702597 [GRCh38]
Chr19:6702607..6702608 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4278C>G (p.Asp1426Glu) single nucleotide variant not provided [RCV003480290] Chr19:6682013 [GRCh38]
Chr19:6682024 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2345C>T (p.Pro782Leu) single nucleotide variant Inborn genetic diseases [RCV004604956]|not provided [RCV003480292] Chr19:6702480 [GRCh38]
Chr19:6702491 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.600-1G>T single nucleotide variant not provided [RCV003480503] Chr19:6714249 [GRCh38]
Chr19:6714260 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.268-16C>T single nucleotide variant not provided [RCV003852730] Chr19:6718428 [GRCh38]
Chr19:6718439 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1325A>G (p.Gln442Arg) single nucleotide variant C3-related disorder [RCV003400009] Chr19:6711141 [GRCh38]
Chr19:6711152 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4336A>G (p.Ile1446Val) single nucleotide variant not provided [RCV003480289] Chr19:6681955 [GRCh38]
Chr19:6681966 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3059C>T (p.Pro1020Leu) single nucleotide variant C3-related disorder [RCV003397539]|not provided [RCV003565668] Chr19:6694526 [GRCh38]
Chr19:6694537 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.302G>A (p.Gly101Glu) single nucleotide variant C3-related disorder [RCV003402702] Chr19:6718378 [GRCh38]
Chr19:6718389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2000C>T (p.Ala667Val) single nucleotide variant not provided [RCV003421773] Chr19:6707513 [GRCh38]
Chr19:6707524 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.145G>T (p.Ala49Ser) single nucleotide variant Atypical hemolytic-uremic syndrome with C3 anomaly [RCV003388746] Chr19:6719333 [GRCh38]
Chr19:6719344 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1569C>T (p.Thr523=) single nucleotide variant not provided [RCV003406810] Chr19:6710756 [GRCh38]
Chr19:6710767 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1941G>A (p.Thr647=) single nucleotide variant not provided [RCV003829037] Chr19:6707834 [GRCh38]
Chr19:6707845 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2161A>C (p.Lys721Gln) single nucleotide variant not provided [RCV003662694] Chr19:6707160 [GRCh38]
Chr19:6707171 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2457C>A (p.Asp819Glu) single nucleotide variant not provided [RCV003696391] Chr19:6697778 [GRCh38]
Chr19:6697789 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4655T>G (p.Val1552Gly) single nucleotide variant not provided [RCV003690696] Chr19:6678431 [GRCh38]
Chr19:6678442 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1480-10G>C single nucleotide variant not provided [RCV003574190] Chr19:6710855 [GRCh38]
Chr19:6710866 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.595G>A (p.Val199Ile) single nucleotide variant not provided [RCV003546207] Chr19:6714356 [GRCh38]
Chr19:6714367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3417A>G (p.Lys1139=) single nucleotide variant not provided [RCV003690122] Chr19:6690701 [GRCh38]
Chr19:6690712 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.408G>A (p.Lys136=) single nucleotide variant not provided [RCV003740124] Chr19:6718272 [GRCh38]
Chr19:6718283 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3640G>C (p.Ala1214Pro) single nucleotide variant Inborn genetic diseases [RCV004366825]|not provided [RCV003829906] Chr19:6686752 [GRCh38]
Chr19:6686763 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3909C>G (p.Arg1303=) single nucleotide variant not provided [RCV003740191] Chr19:6685048 [GRCh38]
Chr19:6685059 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2019G>A (p.Val673=) single nucleotide variant not provided [RCV003740381] Chr19:6707494 [GRCh38]
Chr19:6707505 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3375A>G (p.Ile1125Met) single nucleotide variant not provided [RCV003686691] Chr19:6692939 [GRCh38]
Chr19:6692950 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.876+5C>T single nucleotide variant not provided [RCV003662628] Chr19:6713402 [GRCh38]
Chr19:6713413 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4114G>C (p.Glu1372Gln) single nucleotide variant not provided [RCV003695454] Chr19:6684566 [GRCh38]
Chr19:6684577 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.947C>T (p.Ala316Val) single nucleotide variant not provided [RCV003715806] Chr19:6713245 [GRCh38]
Chr19:6713256 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.177C>G (p.Val59=) single nucleotide variant not provided [RCV003547593] Chr19:6719301 [GRCh38]
Chr19:6719312 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2357T>G (p.Ile786Ser) single nucleotide variant not provided [RCV003691897] Chr19:6702210 [GRCh38]
Chr19:6702221 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1196_1223dup (p.Lys408fs) duplication not provided [RCV003544321] Chr19:6712302..6712303 [GRCh38]
Chr19:6712313..6712314 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4485G>A (p.Pro1495=) single nucleotide variant not provided [RCV003691082] Chr19:6679468 [GRCh38]
Chr19:6679479 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1339A>G (p.Ser447Gly) single nucleotide variant not provided [RCV003693294] Chr19:6711127 [GRCh38]
Chr19:6711138 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.595G>T (p.Val199Phe) single nucleotide variant not provided [RCV003545114] Chr19:6714356 [GRCh38]
Chr19:6714367 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4714+5G>A single nucleotide variant not provided [RCV003691299] Chr19:6678367 [GRCh38]
Chr19:6678378 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2035C>A (p.Arg679=) single nucleotide variant not provided [RCV003830779] Chr19:6707478 [GRCh38]
Chr19:6707489 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.52C>T (p.Pro18Ser) single nucleotide variant not provided [RCV003830103] Chr19:6720538 [GRCh38]
Chr19:6720549 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1810G>A (p.Val604Met) single nucleotide variant not provided [RCV003713363] Chr19:6709719 [GRCh38]
Chr19:6709730 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4811T>C (p.Met1604Thr) single nucleotide variant not provided [RCV003881545] Chr19:6678191 [GRCh38]
Chr19:6678202 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4032G>A (p.Val1344=) single nucleotide variant not provided [RCV003712772] Chr19:6684648 [GRCh38]
Chr19:6684659 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1004-7C>T single nucleotide variant not provided [RCV003714141] Chr19:6712630 [GRCh38]
Chr19:6712641 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.957G>A (p.Leu319=) single nucleotide variant not provided [RCV003715548] Chr19:6713235 [GRCh38]
Chr19:6713246 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1270-5C>T single nucleotide variant not provided [RCV003829002] Chr19:6711201 [GRCh38]
Chr19:6711212 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.924G>T (p.Leu308=) single nucleotide variant not provided [RCV003830688] Chr19:6713268 [GRCh38]
Chr19:6713279 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1399_1406del (p.Pro467fs) deletion not provided [RCV003715611] Chr19:6711060..6711067 [GRCh38]
Chr19:6711071..6711078 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.303_304delinsAG (p.Arg102Gly) indel not provided [RCV003578778] Chr19:6718376..6718377 [GRCh38]
Chr19:6718387..6718388 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4445A>G (p.Tyr1482Cys) single nucleotide variant not provided [RCV003686947] Chr19:6680169 [GRCh38]
Chr19:6680180 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1156C>T (p.Arg386Ter) single nucleotide variant not provided [RCV003688423] Chr19:6712370 [GRCh38]
Chr19:6712381 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.3189C>G (p.Ser1063Arg) single nucleotide variant not provided [RCV003713327] Chr19:6693453 [GRCh38]
Chr19:6693464 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3301T>C (p.Cys1101Arg) single nucleotide variant not provided [RCV003688004] Chr19:6693013 [GRCh38]
Chr19:6693024 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.877-8del deletion not provided [RCV003694110] Chr19:6713323 [GRCh38]
Chr19:6713334 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2105C>T (p.Pro702Leu) single nucleotide variant not provided [RCV003830365] Chr19:6707216 [GRCh38]
Chr19:6707227 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3339G>A (p.Lys1113=) single nucleotide variant not provided [RCV003695565] Chr19:6692975 [GRCh38]
Chr19:6692986 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.74+17C>T single nucleotide variant not provided [RCV003578859] Chr19:6720499 [GRCh38]
Chr19:6720510 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2838C>T (p.Thr946=) single nucleotide variant not provided [RCV003713647] Chr19:6696618 [GRCh38]
Chr19:6696629 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4443C>T (p.Ala1481=) single nucleotide variant not provided [RCV003689701] Chr19:6680171 [GRCh38]
Chr19:6680182 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4812G>C (p.Met1604Ile) single nucleotide variant not provided [RCV003547688] Chr19:6678190 [GRCh38]
Chr19:6678201 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2017G>A (p.Val673Met) single nucleotide variant not provided [RCV003829119] Chr19:6707496 [GRCh38]
Chr19:6707507 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.267+15G>T single nucleotide variant not provided [RCV003830993] Chr19:6719196 [GRCh38]
Chr19:6719207 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3243C>T (p.Tyr1081=) single nucleotide variant not provided [RCV003693164] Chr19:6693071 [GRCh38]
Chr19:6693082 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2209C>T (p.Gln737Ter) single nucleotide variant not provided [RCV003572254] Chr19:6707112 [GRCh38]
Chr19:6707123 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.3460G>A (p.Ala1154Thr) single nucleotide variant not provided [RCV003715374] Chr19:6690658 [GRCh38]
Chr19:6690669 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2156C>T (p.Ala719Val) single nucleotide variant not provided [RCV003666135] Chr19:6707165 [GRCh38]
Chr19:6707176 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2965C>T (p.Gln989Ter) single nucleotide variant not provided [RCV003688106] Chr19:6694620 [GRCh38]
Chr19:6694631 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.1687-22G>A single nucleotide variant not specified [RCV003494231] Chr19:6709864 [GRCh38]
Chr19:6709875 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+14A>T single nucleotide variant not provided [RCV003824805] Chr19:6702457 [GRCh38]
Chr19:6702468 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3220C>T (p.Pro1074Ser) single nucleotide variant not provided [RCV003661736] Chr19:6693422 [GRCh38]
Chr19:6693433 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2232G>A (p.Leu744=) single nucleotide variant not provided [RCV003880333] Chr19:6707089 [GRCh38]
Chr19:6707100 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1131G>A (p.Thr377=) single nucleotide variant not provided [RCV003714593] Chr19:6712395 [GRCh38]
Chr19:6712406 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1404G>A (p.Gly468=) single nucleotide variant not provided [RCV003826691] Chr19:6711062 [GRCh38]
Chr19:6711073 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1723C>T (p.Pro575Ser) single nucleotide variant not provided [RCV003692438] Chr19:6709806 [GRCh38]
Chr19:6709817 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2112G>A (p.Arg704=) single nucleotide variant C3-related disorder [RCV003919308]|not provided [RCV003660730] Chr19:6707209 [GRCh38]
Chr19:6707220 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3390+2dup duplication not provided [RCV003716661] Chr19:6692921..6692922 [GRCh38]
Chr19:6692932..6692933 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2460C>G (p.Pro820=) single nucleotide variant not provided [RCV003686709] Chr19:6697775 [GRCh38]
Chr19:6697786 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3969+2T>C single nucleotide variant not provided [RCV003545307] Chr19:6684986 [GRCh38]
Chr19:6684997 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.2603A>C (p.His868Pro) single nucleotide variant not provided [RCV003713115] Chr19:6697537 [GRCh38]
Chr19:6697548 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3017C>A (p.Thr1006Asn) single nucleotide variant not provided [RCV003690655] Chr19:6694568 [GRCh38]
Chr19:6694579 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1975+17G>C single nucleotide variant not provided [RCV003580522] Chr19:6707783 [GRCh38]
Chr19:6707794 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.242A>G (p.Asn81Ser) single nucleotide variant not provided [RCV003697678] Chr19:6719236 [GRCh38]
Chr19:6719247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3391-11_3391-8del microsatellite not provided [RCV003717737] Chr19:6690735..6690738 [GRCh38]
Chr19:6690746..6690749 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4512G>A (p.Lys1504=) single nucleotide variant not provided [RCV003698698] Chr19:6679441 [GRCh38]
Chr19:6679452 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2863+5G>A single nucleotide variant not provided [RCV003716888] Chr19:6696588 [GRCh38]
Chr19:6696599 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.266C>T (p.Thr89Met) single nucleotide variant not provided [RCV003549455] Chr19:6719212 [GRCh38]
Chr19:6719223 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1480-8C>T single nucleotide variant not provided [RCV003698271] Chr19:6710853 [GRCh38]
Chr19:6710864 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3678G>C (p.Gln1226His) single nucleotide variant not provided [RCV003659636] Chr19:6686256 [GRCh38]
Chr19:6686267 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4456+20C>T single nucleotide variant not provided [RCV003666272] Chr19:6680138 [GRCh38]
Chr19:6680149 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4030-17C>T single nucleotide variant not provided [RCV003832415] Chr19:6684667 [GRCh38]
Chr19:6684678 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4161G>A (p.Glu1387=) single nucleotide variant not provided [RCV003851281] Chr19:6684399 [GRCh38]
Chr19:6684410 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1050C>T (p.Thr350=) single nucleotide variant not provided [RCV003852427] Chr19:6712577 [GRCh38]
Chr19:6712588 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3856G>A (p.Ala1286Thr) single nucleotide variant not provided [RCV003702700] Chr19:6685101 [GRCh38]
Chr19:6685112 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1733G>A (p.Gly578Glu) single nucleotide variant not provided [RCV003838122] Chr19:6709796 [GRCh38]
Chr19:6709807 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1686+11C>T single nucleotide variant not provided [RCV003669733] Chr19:6710628 [GRCh38]
Chr19:6710639 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2442G>A (p.Gly814=) single nucleotide variant not provided [RCV003670506] Chr19:6697793 [GRCh38]
Chr19:6697804 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.735C>G (p.Ile245Met) single nucleotide variant not provided [RCV003854483] Chr19:6714030 [GRCh38]
Chr19:6714041 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2399C>G (p.Thr800Ser) single nucleotide variant not provided [RCV003701511] Chr19:6702168 [GRCh38]
Chr19:6702179 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.682+15G>T single nucleotide variant not provided [RCV003703526] Chr19:6714151 [GRCh38]
Chr19:6714162 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4850+20G>A single nucleotide variant not provided [RCV003667102] Chr19:6678132 [GRCh38]
Chr19:6678143 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2669C>A (p.Pro890His) single nucleotide variant not provided [RCV003852571] Chr19:6697471 [GRCh38]
Chr19:6697482 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4748C>T (p.Thr1583Met) single nucleotide variant not provided [RCV003838500] Chr19:6678254 [GRCh38]
Chr19:6678265 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.504+16_504+26del deletion not provided [RCV003580279] Chr19:6718068..6718078 [GRCh38]
Chr19:6718079..6718089 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3004C>T (p.His1002Tyr) single nucleotide variant not provided [RCV003703703] Chr19:6694581 [GRCh38]
Chr19:6694592 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4133A>G (p.Gln1378Arg) single nucleotide variant not provided [RCV003667281] Chr19:6684427 [GRCh38]
Chr19:6684438 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.876+18C>T single nucleotide variant not provided [RCV003837333] Chr19:6713389 [GRCh38]
Chr19:6713400 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2796+13G>C single nucleotide variant not provided [RCV003672545] Chr19:6697331 [GRCh38]
Chr19:6697342 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1687-19G>A single nucleotide variant not provided [RCV003816162] Chr19:6709861 [GRCh38]
Chr19:6709872 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1777del (p.Val593fs) deletion not provided [RCV003697580] Chr19:6709752 [GRCh38]
Chr19:6709763 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4715-5T>C single nucleotide variant not provided [RCV003670447] Chr19:6678292 [GRCh38]
Chr19:6678303 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1624G>A (p.Gly542Ser) single nucleotide variant not provided [RCV003726426] Chr19:6710701 [GRCh38]
Chr19:6710712 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1686G>C (p.Ser562=) single nucleotide variant not provided [RCV003703256] Chr19:6710639 [GRCh38]
Chr19:6710650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.267+10G>T single nucleotide variant not provided [RCV003855474] Chr19:6719201 [GRCh38]
Chr19:6719212 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4779C>A (p.Ala1593=) single nucleotide variant not provided [RCV003724068] Chr19:6678223 [GRCh38]
Chr19:6678234 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4850+20G>T single nucleotide variant not provided [RCV003855021] Chr19:6678132 [GRCh38]
Chr19:6678143 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4813T>C (p.Trp1605Arg) single nucleotide variant not provided [RCV003670180] Chr19:6678189 [GRCh38]
Chr19:6678200 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2923G>A (p.Glu975Lys) single nucleotide variant not provided [RCV003700709] Chr19:6696406 [GRCh38]
Chr19:6696417 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.466C>T (p.Leu156=) single nucleotide variant not provided [RCV003557677] Chr19:6718132 [GRCh38]
Chr19:6718143 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3152A>T (p.Lys1051Met) single nucleotide variant not provided [RCV003560070] Chr19:6694433 [GRCh38]
Chr19:6694444 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1645G>A (p.Asp549Asn) single nucleotide variant not provided [RCV003560071] Chr19:6710680 [GRCh38]
Chr19:6710691 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.318G>C (p.Val106=) single nucleotide variant not provided [RCV003671738] Chr19:6718362 [GRCh38]
Chr19:6718373 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2950+1G>A single nucleotide variant not provided [RCV003702608] Chr19:6696378 [GRCh38]
Chr19:6696389 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.4714+7C>G single nucleotide variant not provided [RCV003726205] Chr19:6678365 [GRCh38]
Chr19:6678376 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3154+9C>T single nucleotide variant not provided [RCV003832276] Chr19:6694422 [GRCh38]
Chr19:6694433 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1293C>G (p.Leu431=) single nucleotide variant not provided [RCV003667897] Chr19:6711173 [GRCh38]
Chr19:6711184 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4395A>G (p.Gln1465=) single nucleotide variant not provided [RCV003725792] Chr19:6680219 [GRCh38]
Chr19:6680230 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4180G>C (p.Gly1394Arg) single nucleotide variant not provided [RCV003839514] Chr19:6682222 [GRCh38]
Chr19:6682233 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4261-17G>C single nucleotide variant not provided [RCV003703172] Chr19:6682047 [GRCh38]
Chr19:6682058 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2290C>T (p.Arg764Ter) single nucleotide variant not provided [RCV003838012] Chr19:6702535 [GRCh38]
Chr19:6702546 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4987A>G (p.Asn1663Asp) single nucleotide variant not provided [RCV003672262] Chr19:6677887 [GRCh38]
Chr19:6677898 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2204GGC[3] (p.Arg736_Gln737insArg) microsatellite not provided [RCV003669849] Chr19:6707111..6707112 [GRCh38]
Chr19:6707122..6707123 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2655C>G (p.Thr885=) single nucleotide variant not provided [RCV003814555] Chr19:6697485 [GRCh38]
Chr19:6697496 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2773G>A (p.Val925Ile) single nucleotide variant not provided [RCV003702967] Chr19:6697367 [GRCh38]
Chr19:6697378 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1975+5G>A single nucleotide variant not provided [RCV003580523] Chr19:6707795 [GRCh38]
Chr19:6707806 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4260+9G>A single nucleotide variant not provided [RCV003665288] Chr19:6682133 [GRCh38]
Chr19:6682144 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4073G>T (p.Cys1358Phe) single nucleotide variant not provided [RCV003838134] Chr19:6684607 [GRCh38]
Chr19:6684618 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4951G>T (p.Ala1651Ser) single nucleotide variant not provided [RCV003812017] Chr19:6677923 [GRCh38]
Chr19:6677934 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.82A>G (p.Ile28Val) single nucleotide variant not provided [RCV003667621] Chr19:6719396 [GRCh38]
Chr19:6719407 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3396A>G (p.Gly1132=) single nucleotide variant not provided [RCV003852683] Chr19:6690722 [GRCh38]
Chr19:6690733 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1004-16C>G single nucleotide variant not provided [RCV003835378] Chr19:6712639 [GRCh38]
Chr19:6712650 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2464G>A (p.Glu822Lys) single nucleotide variant not provided [RCV003850586] Chr19:6697771 [GRCh38]
Chr19:6697782 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1119+20G>A single nucleotide variant not provided [RCV003664112] Chr19:6712488 [GRCh38]
Chr19:6712499 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3750T>C (p.Pro1250=) single nucleotide variant not provided [RCV003835450] Chr19:6686184 [GRCh38]
Chr19:6686195 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3049G>A (p.Gly1017Ser) single nucleotide variant not provided [RCV003668293] Chr19:6694536 [GRCh38]
Chr19:6694547 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3155-17C>T single nucleotide variant not provided [RCV003849694] Chr19:6693504 [GRCh38]
Chr19:6693515 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3069C>A (p.Ile1023=) single nucleotide variant not provided [RCV003701918] Chr19:6694516 [GRCh38]
Chr19:6694527 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3880C>T (p.Leu1294Phe) single nucleotide variant not provided [RCV003850306] Chr19:6685077 [GRCh38]
Chr19:6685088 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.682+9A>G single nucleotide variant not provided [RCV003701626] Chr19:6714157 [GRCh38]
Chr19:6714168 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.911G>C (p.Arg304Pro) single nucleotide variant not provided [RCV003838455] Chr19:6713281 [GRCh38]
Chr19:6713292 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2950+10C>A single nucleotide variant not provided [RCV003580645] Chr19:6696369 [GRCh38]
Chr19:6696380 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2592G>A (p.Val864=) single nucleotide variant not provided [RCV003560708] Chr19:6697548 [GRCh38]
Chr19:6697559 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.594C>T (p.Leu198=) single nucleotide variant not provided [RCV003671370] Chr19:6714357 [GRCh38]
Chr19:6714368 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2047+8C>T single nucleotide variant not provided [RCV003673016] Chr19:6707458 [GRCh38]
Chr19:6707469 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1940C>G (p.Thr647Arg) single nucleotide variant not provided [RCV003839089] Chr19:6707835 [GRCh38]
Chr19:6707846 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4641C>A (p.Thr1547=) single nucleotide variant not provided [RCV003580308] Chr19:6678445 [GRCh38]
Chr19:6678456 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3891C>T (p.Ser1297=) single nucleotide variant not provided [RCV003729054] Chr19:6685066 [GRCh38]
Chr19:6685077 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1718G>A (p.Arg573Gln) single nucleotide variant not provided [RCV003845221] Chr19:6709811 [GRCh38]
Chr19:6709822 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1701C>T (p.Ser567=) single nucleotide variant not provided [RCV003568525] Chr19:6709828 [GRCh38]
Chr19:6709839 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4178G>C (p.Arg1393Pro) single nucleotide variant not provided [RCV003678963] Chr19:6682224 [GRCh38]
Chr19:6682235 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2341C>T (p.Pro781Ser) single nucleotide variant not provided [RCV003552243] Chr19:6702484 [GRCh38]
Chr19:6702495 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4457-4_4457-3delinsAG indel not provided [RCV003706620] Chr19:6679499..6679500 [GRCh38]
Chr19:6679510..6679511 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.262T>C (p.Phe88Leu) single nucleotide variant not provided [RCV003857736] Chr19:6719216 [GRCh38]
Chr19:6719227 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.114C>T (p.Ser38=) single nucleotide variant not provided [RCV003842001] Chr19:6719364 [GRCh38]
Chr19:6719375 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3412G>A (p.Glu1138Lys) single nucleotide variant not provided [RCV003676163] Chr19:6690706 [GRCh38]
Chr19:6690717 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4198A>G (p.Met1400Val) single nucleotide variant not provided [RCV003680148] Chr19:6682204 [GRCh38]
Chr19:6682215 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.36G>C (p.Leu12=) single nucleotide variant not provided [RCV003730820] Chr19:6720554 [GRCh38]
Chr19:6720565 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4907A>C (p.Glu1636Ala) single nucleotide variant not provided [RCV003680238] Chr19:6677967 [GRCh38]
Chr19:6677978 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4216T>C (p.Ser1406Pro) single nucleotide variant not provided [RCV003824040] Chr19:6682186 [GRCh38]
Chr19:6682197 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4039A>G (p.Met1347Val) single nucleotide variant not provided [RCV003679505] Chr19:6684641 [GRCh38]
Chr19:6684652 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1976-13G>A single nucleotide variant not provided [RCV003866492] Chr19:6707550 [GRCh38]
Chr19:6707561 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2718C>A (p.Gly906=) single nucleotide variant not provided [RCV003840957] Chr19:6697422 [GRCh38]
Chr19:6697433 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3193G>C (p.Ala1065Pro) single nucleotide variant not provided [RCV003706649] Chr19:6693449 [GRCh38]
Chr19:6693460 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1911T>C (p.Gly637=) single nucleotide variant not provided [RCV003841223] Chr19:6707864 [GRCh38]
Chr19:6707875 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.193A>G (p.Lys65Glu) single nucleotide variant not provided [RCV003675054] Chr19:6719285 [GRCh38]
Chr19:6719296 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2713A>G (p.Thr905Ala) single nucleotide variant not provided [RCV003732264] Chr19:6697427 [GRCh38]
Chr19:6697438 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1941G>C (p.Thr647=) single nucleotide variant not provided [RCV003678864] Chr19:6707834 [GRCh38]
Chr19:6707845 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3144C>T (p.Leu1048=) single nucleotide variant not provided [RCV003821584] Chr19:6694441 [GRCh38]
Chr19:6694452 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4188G>A (p.Gln1396=) single nucleotide variant not provided [RCV003555435] Chr19:6682214 [GRCh38]
Chr19:6682225 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1968G>C (p.Gln656His) single nucleotide variant not provided [RCV003728751] Chr19:6707807 [GRCh38]
Chr19:6707818 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.504+7G>T single nucleotide variant not provided [RCV003567175] Chr19:6718087 [GRCh38]
Chr19:6718098 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4846C>G (p.Pro1616Ala) single nucleotide variant not provided [RCV003842726] Chr19:6678156 [GRCh38]
Chr19:6678167 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.250G>A (p.Gly84Ser) single nucleotide variant not provided [RCV003682235] Chr19:6719228 [GRCh38]
Chr19:6719239 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1971G>A (p.Arg657=) single nucleotide variant not provided [RCV003675448] Chr19:6707804 [GRCh38]
Chr19:6707815 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2584-9C>G single nucleotide variant not provided [RCV003708117] Chr19:6697565 [GRCh38]
Chr19:6697576 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2354+6G>C single nucleotide variant not provided [RCV003736295] Chr19:6702465 [GRCh38]
Chr19:6702476 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4850+6T>A single nucleotide variant not provided [RCV003564221] Chr19:6678146 [GRCh38]
Chr19:6678157 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.773+16T>C single nucleotide variant not provided [RCV003846000] Chr19:6713976 [GRCh38]
Chr19:6713987 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1041C>T (p.Pro347=) single nucleotide variant not provided [RCV003705289] Chr19:6712586 [GRCh38]
Chr19:6712597 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1809C>T (p.Phe603=) single nucleotide variant not provided [RCV003865423] Chr19:6709720 [GRCh38]
Chr19:6709731 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.148C>G (p.Gln50Glu) single nucleotide variant not provided [RCV003841417] Chr19:6719330 [GRCh38]
Chr19:6719341 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4573G>A (p.Asp1525Asn) single nucleotide variant not provided [RCV003730792] Chr19:6679182 [GRCh38]
Chr19:6679193 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2472A>C (p.Thr824=) single nucleotide variant not provided [RCV003675691] Chr19:6697763 [GRCh38]
Chr19:6697774 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3929G>A (p.Arg1310His) single nucleotide variant not provided [RCV003676918] Chr19:6685028 [GRCh38]
Chr19:6685039 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4139C>A (p.Ala1380Asp) single nucleotide variant not provided [RCV003680693] Chr19:6684421 [GRCh38]
Chr19:6684432 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2931G>A (p.Glu977=) single nucleotide variant not provided [RCV003819889] Chr19:6696398 [GRCh38]
Chr19:6696409 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1989G>A (p.Pro663=) single nucleotide variant not provided [RCV003730027] Chr19:6707524 [GRCh38]
Chr19:6707535 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1846-10C>T single nucleotide variant not provided [RCV003568415] Chr19:6707939 [GRCh38]
Chr19:6707950 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3043_3048dup (p.Ile1016_Gly1017insMetIle) duplication not provided [RCV003680419] Chr19:6694536..6694537 [GRCh38]
Chr19:6694547..6694548 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3345C>T (p.Asp1115=) single nucleotide variant not provided [RCV003678201] Chr19:6692969 [GRCh38]
Chr19:6692980 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3185C>A (p.Pro1062His) single nucleotide variant not provided [RCV003707031] Chr19:6693457 [GRCh38]
Chr19:6693468 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3391-18T>C single nucleotide variant not provided [RCV003681668] Chr19:6690745 [GRCh38]
Chr19:6690756 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.683-17C>T single nucleotide variant not provided [RCV003819595] Chr19:6714099 [GRCh38]
Chr19:6714110 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1608G>A (p.Thr536=) single nucleotide variant not provided [RCV003710195] Chr19:6710717 [GRCh38]
Chr19:6710728 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4143G>A (p.Lys1381=) single nucleotide variant not provided [RCV003676905] Chr19:6684417 [GRCh38]
Chr19:6684428 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.683-18A>G single nucleotide variant not provided [RCV003859376] Chr19:6714100 [GRCh38]
Chr19:6714111 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2407G>A (p.Glu803Lys) single nucleotide variant not provided [RCV003734682] Chr19:6702160 [GRCh38]
Chr19:6702171 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV003726958] Chr19:6720582 [GRCh38]
Chr19:6720593 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4454T>C (p.Leu1485Pro) single nucleotide variant not provided [RCV003564739] Chr19:6680160 [GRCh38]
Chr19:6680171 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4519C>T (p.Arg1507Cys) single nucleotide variant not provided [RCV003870648] Chr19:6679434 [GRCh38]
Chr19:6679445 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4715-18C>T single nucleotide variant not provided [RCV003844914] Chr19:6678305 [GRCh38]
Chr19:6678316 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4935A>G (p.Gln1645=) single nucleotide variant not provided [RCV003709832] Chr19:6677939 [GRCh38]
Chr19:6677950 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3647-20A>T single nucleotide variant not provided [RCV003706416] Chr19:6686307 [GRCh38]
Chr19:6686318 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.75-5G>C single nucleotide variant not provided [RCV003731537] Chr19:6719408 [GRCh38]
Chr19:6719419 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3483G>A (p.Gln1161=) single nucleotide variant not provided [RCV003712147] Chr19:6690635 [GRCh38]
Chr19:6690646 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3188G>A (p.Ser1063Asn) single nucleotide variant not provided [RCV003843775] Chr19:6693454 [GRCh38]
Chr19:6693465 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1384C>T (p.Arg462Cys) single nucleotide variant not provided [RCV003845640] Chr19:6711082 [GRCh38]
Chr19:6711093 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2002C>T (p.Arg668Cys) single nucleotide variant not provided [RCV003684870] Chr19:6707511 [GRCh38]
Chr19:6707522 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2127C>T (p.Arg709=) single nucleotide variant not provided [RCV003869712] Chr19:6707194 [GRCh38]
Chr19:6707205 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1906G>A (p.Ala636Thr) single nucleotide variant not provided [RCV003732250] Chr19:6707869 [GRCh38]
Chr19:6707880 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3811G>A (p.Ala1271Thr) single nucleotide variant not provided [RCV003710981] Chr19:6685146 [GRCh38]
Chr19:6685157 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2681T>C (p.Leu894Ser) single nucleotide variant not provided [RCV003683542] Chr19:6697459 [GRCh38]
Chr19:6697470 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3154+13C>T single nucleotide variant not provided [RCV003679783] Chr19:6694418 [GRCh38]
Chr19:6694429 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1846-5C>G single nucleotide variant not provided [RCV003857649] Chr19:6707934 [GRCh38]
Chr19:6707945 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV003678085] Chr19:6720560 [GRCh38]
Chr19:6720571 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4456+13C>A single nucleotide variant not provided [RCV003711065] Chr19:6680145 [GRCh38]
Chr19:6680156 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.774-5C>T single nucleotide variant not provided [RCV003870181] Chr19:6713514 [GRCh38]
Chr19:6713525 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1180G>A (p.Glu394Lys) single nucleotide variant not provided [RCV003707461] Chr19:6712346 [GRCh38]
Chr19:6712357 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1846-13A>C single nucleotide variant not provided [RCV003678102] Chr19:6707942 [GRCh38]
Chr19:6707953 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.901G>A (p.Val301Met) single nucleotide variant not provided [RCV003734683] Chr19:6713291 [GRCh38]
Chr19:6713302 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3228C>G (p.Thr1076=) single nucleotide variant not provided [RCV003720117] Chr19:6693414 [GRCh38]
Chr19:6693425 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1120-18C>A single nucleotide variant not provided [RCV003868384] Chr19:6712424 [GRCh38]
Chr19:6712435 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3391-11C>G single nucleotide variant not provided [RCV003678361] Chr19:6690738 [GRCh38]
Chr19:6690749 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2416G>T (p.Ala806Ser) single nucleotide variant not provided [RCV003675705] Chr19:6702151 [GRCh38]
Chr19:6702162 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.19C>T (p.Pro7Ser) single nucleotide variant not provided [RCV003731152] Chr19:6720571 [GRCh38]
Chr19:6720582 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.620G>A (p.Arg207Gln) single nucleotide variant not provided [RCV003723021] Chr19:6714228 [GRCh38]
Chr19:6714239 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.74+13G>A single nucleotide variant not provided [RCV003819697] Chr19:6720503 [GRCh38]
Chr19:6720514 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.433+11G>A single nucleotide variant not provided [RCV003845174] Chr19:6718236 [GRCh38]
Chr19:6718247 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4630+19G>A single nucleotide variant not provided [RCV003868623] Chr19:6679106 [GRCh38]
Chr19:6679117 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2440+7G>A single nucleotide variant not provided [RCV003729989] Chr19:6702120 [GRCh38]
Chr19:6702131 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4029+19C>T single nucleotide variant not provided [RCV003685428] Chr19:6684756 [GRCh38]
Chr19:6684767 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2712G>T (p.Lys904Asn) single nucleotide variant Inborn genetic diseases [RCV004369529]|not provided [RCV003867848] Chr19:6697428 [GRCh38]
Chr19:6697439 [GRCh37]
Chr19:19p13.3		 likely benign|uncertain significance
NM_000064.4(C3):c.4326C>T (p.Asn1442=) single nucleotide variant not provided [RCV003868980] Chr19:6681965 [GRCh38]
Chr19:6681976 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4794G>A (p.Glu1598=) single nucleotide variant not provided [RCV003708987] Chr19:6678208 [GRCh38]
Chr19:6678219 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1003+9C>G single nucleotide variant not provided [RCV003684551] Chr19:6713180 [GRCh38]
Chr19:6713191 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3327G>A (p.Leu1109=) single nucleotide variant not provided [RCV003684629] Chr19:6692987 [GRCh38]
Chr19:6692998 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1976-7_1976-3del microsatellite not provided [RCV003551138] Chr19:6707540..6707544 [GRCh38]
Chr19:6707551..6707555 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3231-3C>T single nucleotide variant not provided [RCV003860583] Chr19:6693086 [GRCh38]
Chr19:6693097 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3391-15T>C single nucleotide variant not provided [RCV003862518] Chr19:6690742 [GRCh38]
Chr19:6690753 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.74+7G>C single nucleotide variant not provided [RCV003552260] Chr19:6720509 [GRCh38]
Chr19:6720520 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1644C>T (p.Ala548=) single nucleotide variant not provided [RCV003733604] Chr19:6710681 [GRCh38]
Chr19:6710692 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2661C>T (p.Thr887=) single nucleotide variant not provided [RCV003553031] Chr19:6697479 [GRCh38]
Chr19:6697490 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1975+13C>T single nucleotide variant not provided [RCV003865643] Chr19:6707787 [GRCh38]
Chr19:6707798 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4064A>G (p.Gln1355Arg) single nucleotide variant not provided [RCV003563155] Chr19:6684616 [GRCh38]
Chr19:6684627 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.267+9A>C single nucleotide variant not provided [RCV003705922] Chr19:6719202 [GRCh38]
Chr19:6719213 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.4561C>G (p.Gln1521Glu) single nucleotide variant not provided [RCV003727005] Chr19:6679194 [GRCh38]
Chr19:6679205 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1652T>C (p.Val551Ala) single nucleotide variant not provided [RCV003728263] Chr19:6710673 [GRCh38]
Chr19:6710684 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.176T>C (p.Val59Ala) single nucleotide variant not provided [RCV003731047] Chr19:6719302 [GRCh38]
Chr19:6719313 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.682+6AGG[2] microsatellite not provided [RCV003670549] Chr19:6714152..6714154 [GRCh38]
Chr19:6714163..6714165 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1443C>T (p.Arg481=) single nucleotide variant not provided [RCV003844306] Chr19:6711023 [GRCh38]
Chr19:6711034 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.75-6C>T single nucleotide variant not provided [RCV003730850] Chr19:6719409 [GRCh38]
Chr19:6719420 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.2950+5G>A single nucleotide variant not provided [RCV003563837] Chr19:6696374 [GRCh38]
Chr19:6696385 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3069C>T (p.Ile1023=) single nucleotide variant not provided [RCV003710853] Chr19:6694516 [GRCh38]
Chr19:6694527 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV003675972] Chr19:6720553 [GRCh38]
Chr19:6720564 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1269+16G>T single nucleotide variant not provided [RCV003678397] Chr19:6712241 [GRCh38]
Chr19:6712252 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.1444G>A (p.Ala482Thr) single nucleotide variant not provided [RCV003728748] Chr19:6711022 [GRCh38]
Chr19:6711033 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4887G>C (p.Glu1629Asp) single nucleotide variant not provided [RCV003843718] Chr19:6677987 [GRCh38]
Chr19:6677998 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4263G>A (p.Leu1421=) single nucleotide variant not provided [RCV003732129] Chr19:6682028 [GRCh38]
Chr19:6682039 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1581T>C (p.Pro527=) single nucleotide variant not provided [RCV003708881] Chr19:6710744 [GRCh38]
Chr19:6710755 [GRCh37]
Chr19:19p13.3		 likely benign
NM_000064.4(C3):c.3248T>A (p.Val1083Asp) single nucleotide variant not provided [RCV003680864] Chr19:6693066 [GRCh38]
Chr19:6693077 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2284G>A (p.Val762Ile) single nucleotide variant not provided [RCV003568657] Chr19:6702541 [GRCh38]
Chr19:6702552 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2099A>G (p.Glu700Gly) single nucleotide variant not provided [RCV003676378] Chr19:6707222 [GRCh38]
Chr19:6707233 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1774C>T (p.Arg592Trp) single nucleotide variant Familial Atypical Hemolytic-Uremic Syndrome [RCV003988253]|not provided [RCV004596614] Chr19:6709755 [GRCh38]
Chr19:6709766 [GRCh37]
Chr19:19p13.3		 likely pathogenic
NM_000064.4(C3):c.315C>G (p.Phe105Leu) single nucleotide variant C3-related disorder [RCV003894112] Chr19:6718365 [GRCh38]
Chr19:6718376 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3899T>A (p.Leu1300Gln) single nucleotide variant C3-related disorder [RCV003983504] Chr19:6685058 [GRCh38]
Chr19:6685069 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2740G>A (p.Ala914Thr) single nucleotide variant Complement component 3 deficiency [RCV003990128] Chr19:6697400 [GRCh38]
Chr19:6697411 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.587C>T (p.Pro196Leu) single nucleotide variant C3-related disorder [RCV003899437] Chr19:6714364 [GRCh38]
Chr19:6714375 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.555G>C (p.Gln185His) single nucleotide variant not specified [RCV003988227] Chr19:6714396 [GRCh38]
Chr19:6714407 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4258C>G (p.Gln1420Glu) single nucleotide variant Inborn genetic diseases [RCV004429786] Chr19:6682144 [GRCh38]
Chr19:6682155 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4570G>C (p.Asp1524His) single nucleotide variant Inborn genetic diseases [RCV004429787] Chr19:6679185 [GRCh38]
Chr19:6679196 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1184A>G (p.Asp395Gly) single nucleotide variant Inborn genetic diseases [RCV004429780] Chr19:6712342 [GRCh38]
Chr19:6712353 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2863+6T>A single nucleotide variant Inborn genetic diseases [RCV004429784] Chr19:6696587 [GRCh38]
Chr19:6696598 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2140A>G (p.Ile714Val) single nucleotide variant Inborn genetic diseases [RCV004429783] Chr19:6707181 [GRCh38]
Chr19:6707192 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3982G>A (p.Glu1328Lys) single nucleotide variant Inborn genetic diseases [RCV004429785] Chr19:6684822 [GRCh38]
Chr19:6684833 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1553C>A (p.Pro518His) single nucleotide variant Inborn genetic diseases [RCV004429781] Chr19:6710772 [GRCh38]
Chr19:6710783 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1702G>C (p.Gly568Arg) single nucleotide variant Inborn genetic diseases [RCV004429782] Chr19:6709827 [GRCh38]
Chr19:6709838 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_6677893)_(6682260_?)del deletion not provided [RCV004579684] Chr19:6677893..6682260 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_5691310)_(8008536_?)dup duplication not provided [RCV004579685] Chr19:5691310..8008536 [GRCh37]
Chr19:19p13.3-13.2		 uncertain significance
NC_000019.9:g.(?_6709675)_(6720600_?)dup duplication not provided [RCV004579686] Chr19:6709675..6720600 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_6707791)_(6720600_?)dup duplication not provided [RCV004579687] Chr19:6707791..6720600 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.3613C>A (p.Pro1205Thr) single nucleotide variant not provided [RCV004599053] Chr19:6686779 [GRCh38]
Chr19:6686790 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.2558del (p.Asn853fs) deletion not provided [RCV004599173] Chr19:6697677 [GRCh38]
Chr19:6697688 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_000064.4(C3):c.4322G>T (p.Arg1441Met) single nucleotide variant Inborn genetic diseases [RCV004605993] Chr19:6681969 [GRCh38]
Chr19:6681980 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.367G>A (p.Val123Ile) single nucleotide variant not provided [RCV004585826] Chr19:6718313 [GRCh38]
Chr19:6718324 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.4280G>C (p.Arg1427Thr) single nucleotide variant Inborn genetic diseases [RCV004605992] Chr19:6682011 [GRCh38]
Chr19:6682022 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_000064.4(C3):c.1015G>T (p.Val339Leu) single nucleotide variant not provided [RCV004774116] Chr19:6712612 [GRCh38]
Chr19:6712623 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4399
Count of miRNA genes:1016
Interacting mature miRNAs:1302
Transcripts:ENST00000245907, ENST00000594005, ENST00000594270, ENST00000594936, ENST00000595577, ENST00000596179, ENST00000596238, ENST00000596548, ENST00000597442, ENST00000598805, ENST00000599668, ENST00000599899, ENST00000600744, ENST00000600763, ENST00000601008, ENST00000601475, ENST00000602053, ENST00000602229
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407233095GWAS882071_Hblood protein measurement QTL GWAS882071 (human)4e-18blood protein measurementblood protein measurement (CMO:0000028)1967060306706031Human
407293892GWAS942868_Hcomplement C3D fragment measurement QTL GWAS942868 (human)2e-13complement protein amount (VT:0010033)1967183766718377Human
406945602GWAS594578_HER membrane protein complex subunit 4 measurement QTL GWAS594578 (human)4e-117ER membrane protein complex subunit 4 measurement1966967836696784Human
407027265GWAS676241_Hatrophic macular degeneration QTL GWAS676241 (human)5e-13atrophic macular degeneration1967183766718377Human
406947652GWAS596628_Hprotein measurement QTL GWAS596628 (human)4e-12protein measurement1967176446717645Human
407096134GWAS745110_Hage-related macular degeneration, disease progression measurement QTL GWAS745110 (human)1e-09age-related macular degeneration, disease progression measurementdisease progression measurement (CMO:0001110)1967183766718377Human
406906828GWAS555804_Htrait in response to apixaban QTL GWAS555804 (human)1e-10trait in response to apixaban1967132516713252Human
406961616GWAS610592_Hcomplement C3B, inactivated measurement QTL GWAS610592 (human)4e-18complement protein amount (VT:0010033)1966970776697078Human
406961104GWAS610080_Htyrosine-protein kinase ZAP-70 measurement QTL GWAS610080 (human)3e-12tyrosine-protein kinase ZAP-70 measurement1967131646713165Human
406945107GWAS594083_HER membrane protein complex subunit 4 measurement QTL GWAS594083 (human)5e-947ER membrane protein complex subunit 4 measurement1966984166698417Human
406961618GWAS610594_Hcomplement C3B measurement QTL GWAS610594 (human)9e-17complement protein amount (VT:0010033)1967183766718377Human
406929369GWAS578345_Hcomplement C3 measurement QTL GWAS578345 (human)6e-123complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1967052356705236Human
406929368GWAS578344_Hcomplement C3 measurement QTL GWAS578344 (human)1e-10complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1966931526693153Human
406955483GWAS604459_Hprotein measurement QTL GWAS604459 (human)2e-13protein measurement1967132516713252Human
406946268GWAS595244_Hprotein measurement QTL GWAS595244 (human)2e-19protein measurement1967162686716269Human
406914912GWAS563888_Hsystemic lupus erythematosus QTL GWAS563888 (human)1e-10systemic lupus erythematosus1966890546689055Human
406953824GWAS602800_HRNA-binding protein 24 measurement QTL GWAS602800 (human)6e-14RNA-binding protein 24 measurement1967131646713165Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
406957283GWAS606259_Hprotein measurement QTL GWAS606259 (human)4e-12protein measurement1967132516713252Human
407262050GWAS911026_Hcomplement C3 measurement QTL GWAS911026 (human)0.0000001complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1966984436698444Human
406994151GWAS643127_Hlevel of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum QTL GWAS643127 (human)4e-14level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum1966862636686264Human
407262048GWAS911024_Hcomplement C3 measurement QTL GWAS911024 (human)1e-08complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1966984436698444Human
406978279GWAS627255_Hblood protein measurement QTL GWAS627255 (human)8e-10blood protein measurementblood protein measurement (CMO:0000028)1967107716710772Human
406949352GWAS598328_Hprotein measurement QTL GWAS598328 (human)4e-16protein measurement1967176446717645Human
406960619GWAS609595_Hprotein measurement QTL GWAS609595 (human)3e-24protein measurement1967131646713165Human
407029108GWAS678084_Hage-related macular degeneration QTL GWAS678084 (human)2e-08age-related macular degeneration1967183766718377Human
407050997GWAS699973_Hage-related macular degeneration QTL GWAS699973 (human)1e-10age-related macular degeneration1967183766718377Human
407199612GWAS848588_Hcomplement C3 measurement QTL GWAS848588 (human)6e-17complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1966967836696784Human
406959096GWAS608072_Hcalcium/calmodulin-dependent protein kinase type 1D measurement QTL GWAS608072 (human)4e-13calcium/calmodulin-dependent protein kinase type 1D measurement1967176446717645Human
406993017GWAS641993_Hage-related macular degeneration QTL GWAS641993 (human)2e-10age-related macular degeneration1967162686716269Human
407028863GWAS677839_Hage-related macular degeneration QTL GWAS677839 (human)1e-41age-related macular degeneration1967183766718377Human
407199611GWAS848587_Hcomplement C3 measurement QTL GWAS848587 (human)7e-34complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1967132516713252Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
407041922GWAS690898_Hcomplement C3 measurement QTL GWAS690898 (human)2e-09complement C3 measurementblood complement C3a des Arg level (CMO:0003053)1966907606690761Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
406961545GWAS610521_HC3a anaphylatoxin measurement QTL GWAS610521 (human)4e-12complement protein amount (VT:0010033)1967104406710441Human
406948875GWAS597851_Hregulator of G-protein signaling 8 measurement QTL GWAS597851 (human)2e-12regulator of G-protein signaling 8 measurement1967176446717645Human
406953743GWAS602719_Hcellular retinoic acid-binding protein 1 measurement QTL GWAS602719 (human)4e-14cellular retinoic acid-binding protein 1 measurement1967176446717645Human
407049357GWAS698333_Hage-related macular degeneration QTL GWAS698333 (human)5e-29age-related macular degeneration1967183766718377Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
407032594GWAS681570_Hatrophic macular degeneration, age-related macular degeneration, wet macular degeneration QTL GWAS681570 (human)3e-28atrophic macular degeneration, age-related macular degeneration, wet macular degeneration1967181356718136Human
406893842GWAS542818_HER membrane protein complex subunit 4 measurement QTL GWAS542818 (human)1e-135ER membrane protein complex subunit 4 measurement1967062876706288Human
406961682GWAS610658_Hcomplement C3D fragment measurement QTL GWAS610658 (human)2e-41complement protein amount (VT:0010033)1966970776697078Human
407032593GWAS681569_Hatrophic macular degeneration, age-related macular degeneration, wet macular degeneration QTL GWAS681569 (human)4e-69atrophic macular degeneration, age-related macular degeneration, wet macular degeneration1967183766718377Human
406970260GWAS619236_Hprotein measurement QTL GWAS619236 (human)7e-14protein measurement1967132516713252Human
406965398GWAS614374_HDNA-directed RNA polymerases I and III subunit RPAC1 measurement QTL GWAS614374 (human)5e-13DNA-directed RNA polymerases I and III subunit RPAC1 measurement1967176446717645Human
406953759GWAS602735_Halpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 measurement QTL GWAS602735 (human)3e-12alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 measurement1967176446717645Human
406955553GWAS604529_Honcostatin-M measurement QTL GWAS604529 (human)1e-12oncostatin-M measurement1967176446717645Human
407291299GWAS940275_Hcomplement C3B measurement QTL GWAS940275 (human)1e-13complement protein amount (VT:0010033)1967162686716269Human
406960678GWAS609654_Hv-set and transmembrane domain-containing protein 4 measurement QTL GWAS609654 (human)2e-12v-set and transmembrane domain-containing protein 4 measurement1967131646713165Human
406956075GWAS605051_HOCIA domain-containing protein 1 measurement QTL GWAS605051 (human)1e-11OCIA domain-containing protein 1 measurement1967176446717645Human
407037356GWAS686332_Hblood protein measurement QTL GWAS686332 (human)1e-08blood protein measurementblood protein measurement (CMO:0000028)1966967836696784Human
407044909GWAS693885_Hage-related macular degeneration QTL GWAS693885 (human)1e-08age-related macular degeneration1967183766718377Human
407298484GWAS947460_Hcomplement C3D fragment measurement QTL GWAS947460 (human)1e-16complement protein amount (VT:0010033)1967183766718377Human
406950196GWAS599172_Hprotein measurement QTL GWAS599172 (human)1e-35protein measurement1967162686716269Human
406959159GWAS608135_Hage-related macular degeneration, COVID-19 QTL GWAS608135 (human)2e-71age-related macular degeneration, COVID-191967162686716269Human
407200691GWAS849667_Hblood protein measurement QTL GWAS849667 (human)2e-21blood protein measurementblood protein measurement (CMO:0000028)1967183766718377Human
407027258GWAS676234_Hwet macular degeneration QTL GWAS676234 (human)1e-12wet macular degeneration1967183766718377Human
406942907GWAS591883_Hprotein measurement QTL GWAS591883 (human)3e-18protein measurement1967176446717645Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
406925119GWAS574095_Hblood protein measurement QTL GWAS574095 (human)8e-16blood protein measurementblood protein measurement (CMO:0000028)1966967836696784Human
407172795GWAS821771_Hblood protein measurement QTL GWAS821771 (human)2e-19blood protein measurementblood protein measurement (CMO:0000028)1967131646713165Human

Markers in Region
RH45403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,909 - 6,678,245UniSTSGRCh37
Build 36196,628,909 - 6,629,245RGDNCBI36
Celera196,619,465 - 6,619,801RGD
Celera198,727,408 - 8,727,616UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,093 - 6,440,429UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS
RH80210  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,682,166 - 6,682,372UniSTSGRCh37
Build 36196,633,166 - 6,633,372RGDNCBI36
Celera196,623,724 - 6,623,930RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,444,354 - 6,444,560UniSTS
GeneMap99-GB4 RH Map1952.59UniSTS
GDB:177904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,718,138 - 6,718,423UniSTSGRCh37
Build 36196,669,138 - 6,669,423RGDNCBI36
Celera196,659,691 - 6,659,976RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,480,622 - 6,480,907UniSTS
SGC31874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,856 - 6,677,981UniSTSGRCh37
Build 36196,628,856 - 6,628,981RGDNCBI36
Celera196,619,412 - 6,619,537RGD
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,040 - 6,440,165UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS
Whitehead-RH Map1925.8UniSTS
RH11718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37196,677,956 - 6,678,264UniSTSGRCh37
Build 36196,628,956 - 6,629,264RGDNCBI36
Celera196,619,512 - 6,619,820RGD
Celera198,727,389 - 8,727,569UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef196,440,140 - 6,440,448UniSTS
GeneMap99-GB4 RH Map1940.35UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2249 4970 1726 2348 5 624 1926 465 2266 7276 6444 52 3734 1 851 1741 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA025232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI758500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY513239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP201387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP349355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ985770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC493376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC493377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW027613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000245907   ⟹   ENSP00000245907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,704 - 6,720,650 (-)Ensembl
Ensembl Acc Id: ENST00000594005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,696,614 - 6,697,715 (-)Ensembl
Ensembl Acc Id: ENST00000594270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,712,280 - 6,713,315 (-)Ensembl
Ensembl Acc Id: ENST00000594936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,716,386 - 6,720,650 (-)Ensembl
Ensembl Acc Id: ENST00000595577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,712,316 - 6,714,351 (-)Ensembl
Ensembl Acc Id: ENST00000596179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,684,233 - 6,684,632 (-)Ensembl
Ensembl Acc Id: ENST00000596238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,684,560 - 6,686,376 (-)Ensembl
Ensembl Acc Id: ENST00000596548   ⟹   ENSP00000469744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,680,159 - 6,685,038 (-)Ensembl
Ensembl Acc Id: ENST00000597442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,712,307 - 6,713,788 (-)Ensembl
Ensembl Acc Id: ENST00000598805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,686,289 - 6,693,083 (-)Ensembl
Ensembl Acc Id: ENST00000599668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,867 - 6,680,151 (-)Ensembl
Ensembl Acc Id: ENST00000599899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,841 - 6,683,360 (-)Ensembl
Ensembl Acc Id: ENST00000600744   ⟹   ENSP00000472044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,718,247 - 6,730,562 (-)Ensembl
Ensembl Acc Id: ENST00000600763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,709,756 - 6,710,957 (-)Ensembl
Ensembl Acc Id: ENST00000601008   ⟹   ENSP00000471384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,897 - 6,690,712 (-)Ensembl
Ensembl Acc Id: ENST00000601475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,835 - 6,678,330 (-)Ensembl
Ensembl Acc Id: ENST00000602053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,697,662 - 6,702,872 (-)Ensembl
Ensembl Acc Id: ENST00000602229   ⟹   ENSP00000469482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,864 - 6,679,201 (-)Ensembl
Ensembl Acc Id: ENST00000695651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,704 - 6,708,045 (-)Ensembl
Ensembl Acc Id: ENST00000695652   ⟹   ENSP00000512083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,686,124 - 6,720,681 (-)Ensembl
Ensembl Acc Id: ENST00000695653   ⟹   ENSP00000512084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,846 - 6,707,383 (-)Ensembl
Ensembl Acc Id: ENST00000695654   ⟹   ENSP00000512085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,847 - 6,713,315 (-)Ensembl
Ensembl Acc Id: ENST00000695655   ⟹   ENSP00000512086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,686,124 - 6,712,406 (-)Ensembl
Ensembl Acc Id: ENST00000695689   ⟹   ENSP00000512101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,842 - 6,684,590 (-)Ensembl
Ensembl Acc Id: ENST00000695690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,842 - 6,685,147 (-)Ensembl
Ensembl Acc Id: ENST00000695691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,677,842 - 6,685,147 (-)Ensembl
Ensembl Acc Id: ENST00000695692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,686,108 - 6,713,606 (-)Ensembl
Ensembl Acc Id: ENST00000695693   ⟹   ENSP00000512104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl196,716,386 - 6,720,635 (-)Ensembl
RefSeq Acc Id: NM_000064   ⟹   NP_000055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,677,704 - 6,720,650 (-)NCBI
GRCh37196,677,846 - 6,720,662 (-)ENTREZGENE
Build 36196,628,846 - 6,671,662 (-)NCBI Archive
HuRef196,440,030 - 6,483,146 (-)ENTREZGENE
CHM1_1196,678,095 - 6,720,552 (-)NCBI
T2T-CHM13v2.0196,667,334 - 6,710,056 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000055   ⟸   NM_000064
- Peptide Label: preproprotein
- UniProtKB: A7E236 (UniProtKB/Swiss-Prot),   P01024 (UniProtKB/Swiss-Prot),   V9HWA9 (UniProtKB/TrEMBL),   A0A8Q3SI05 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000469744   ⟸   ENST00000596548
Ensembl Acc Id: ENSP00000245907   ⟸   ENST00000245907
Ensembl Acc Id: ENSP00000472044   ⟸   ENST00000600744
Ensembl Acc Id: ENSP00000471384   ⟸   ENST00000601008
Ensembl Acc Id: ENSP00000469482   ⟸   ENST00000602229
Ensembl Acc Id: ENSP00000512083   ⟸   ENST00000695652
Ensembl Acc Id: ENSP00000512101   ⟸   ENST00000695689
Ensembl Acc Id: ENSP00000512086   ⟸   ENST00000695655
Ensembl Acc Id: ENSP00000512085   ⟸   ENST00000695654
Ensembl Acc Id: ENSP00000512084   ⟸   ENST00000695653
Ensembl Acc Id: ENSP00000512104   ⟸   ENST00000695693
Protein Domains
Alpha-2-macroglobulin bait region   Alpha-macroglobulin receptor-binding   Alpha-macroglobulin-like TED   Anaphylatoxin-like   Complement C3/4/5 macroglobulin   Macroglobulin   NTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01024-F1-model_v2 AlphaFold P01024 1-1663 view protein structure

Promoters
RGD ID:6811515
Promoter ID:HG_ACW:39526
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:C3.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,628,831 - 6,629,331 (-)MPROMDB
RGD ID:6814630
Promoter ID:HG_XEF:3836
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_009778
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,670,126 - 6,670,626 (-)MPROMDB
RGD ID:6795230
Promoter ID:HG_KWN:28676
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000317636,   OTTHUMT00000317641
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,671,376 - 6,671,876 (-)MPROMDB
RGD ID:6795229
Promoter ID:HG_KWN:28677
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000317638
Position:
Human AssemblyChrPosition (strand)Source
Build 36196,681,154 - 6,681,654 (-)MPROMDB
RGD ID:7238235
Promoter ID:EPDNEW_H24864
Type:initiation region
Name:C3_1
Description:complement C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24865  EPDNEW_H24869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,720,650 - 6,720,710EPDNEW
RGD ID:7238241
Promoter ID:EPDNEW_H24865
Type:initiation region
Name:C3_2
Description:complement C3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24864  EPDNEW_H24869  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38196,730,592 - 6,730,652EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1318 AgrOrtholog
COSMIC C3 COSMIC
Ensembl Genes ENSG00000125730 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000245907 ENTREZGENE
  ENST00000245907.11 UniProtKB/Swiss-Prot
  ENST00000594270.5 UniProtKB/TrEMBL
  ENST00000596548.1 UniProtKB/TrEMBL
  ENST00000600744.1 UniProtKB/TrEMBL
  ENST00000601008.1 UniProtKB/TrEMBL
  ENST00000602229.1 UniProtKB/TrEMBL
  ENST00000695652.1 UniProtKB/TrEMBL
  ENST00000695653.1 UniProtKB/TrEMBL
  ENST00000695654.1 UniProtKB/TrEMBL
  ENST00000695655.1 UniProtKB/TrEMBL
  ENST00000695689.1 UniProtKB/TrEMBL
  ENST00000695693.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.50.70 UniProtKB/TrEMBL
  1.50.10.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.20.130.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.1540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1930 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1940 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.20.50.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylotoxins (complement system) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000125730 GTEx
HGNC ID HGNC:1318 ENTREZGENE
Human Proteome Map C3 Human Proteome Map
InterPro A-macroglobulin_rcpt-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A-macroglobulin_rcpt-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M/Complement_sys UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglob_thiol-ester_cl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Alpha-macroglobulin_TED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxin/fibulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxin_comp_syst UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anaphylatoxn_comp_syst_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C3/4/5_MG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C3_CUB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C3_CUB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Macroglobln_a2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MacrogloblnA2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_module_non-TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR_complement_C3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Terpenoid_cyclase/PrenylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP-like_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:718 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 718 ENTREZGENE
OMIM 120700 OMIM
PANTHER MACROGLOBULIN / COMPLEMENT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11412:SF81 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_BRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C3_CUB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C3_CUB2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MG4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TED_complement UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB C3 RGD, PharmGKB
PRINTS ANAPHYLATOXN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ALPHA_2_MACROGLOBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANAPHYLATOXIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART A2M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A2M_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANATO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C345C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thiol-ester_cl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47686 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3SI05 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SI22_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI34_HUMAN UniProtKB/TrEMBL
  A0A8Q3SI45_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKN7_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLS3_HUMAN UniProtKB/TrEMBL
  A0A8Q3WM02_HUMAN UniProtKB/TrEMBL
  A7E236 ENTREZGENE
  B4DR57_HUMAN UniProtKB/TrEMBL
  CO3_HUMAN UniProtKB/Swiss-Prot
  M0QXZ3_HUMAN UniProtKB/TrEMBL
  M0QYC8_HUMAN UniProtKB/TrEMBL
  M0R0Q9_HUMAN UniProtKB/TrEMBL
  M0R1Q1_HUMAN UniProtKB/TrEMBL
  P01024 ENTREZGENE
  V9HWA9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A7E236 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-08-16 C3  complement C3  C3  complement component 3  Symbol and/or name change 5135510 APPROVED