CFH (complement factor H) - Rat Genome Database

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Gene: CFH (complement factor H) Homo sapiens
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Symbol: CFH
Name: complement factor H
RGD ID: 1353869
HGNC Page HGNC:4883
Description: Enables heparan sulfate proteoglycan binding activity; heparin binding activity; and identical protein binding activity. Involved in complement activation; proteolysis; and regulation of complement activation, alternative pathway. Acts upstream of or within regulation of complement activation and regulation of complement-dependent cytotoxicity. Located in symbiont cell surface. Part of serine-type endopeptidase complex. Implicated in several diseases, including atypical hemolytic-uremic syndrome; eye disease (multiple); hemolytic-uremic syndrome; lupus nephritis; and systemic lupus erythematosus. Biomarker of amphetamine abuse; atypical hemolytic-uremic syndrome; glaucoma; psoriasis; and squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adrenomedullin binding protein; age-related maculopathy susceptibility 1; AHUS1; AMBP1; ARMD4; ARMS1; beta-1-H-globulin; beta-1H; CFHL3; complement factor H, isoform b; factor H; factor H-like 1; FH; FHL1; H factor 1 (complement); H factor 2 (complement); HF; HF1; HF2; HUS; MGC88246
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,652,043 - 196,747,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1196,651,754 - 196,752,476 (+)EnsemblGRCh38hg38GRCh38
GRCh371196,621,173 - 196,716,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,887,764 - 194,983,257 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,352,831 - 193,448,257NCBI
Celera1169,729,995 - 169,825,611 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1167,862,965 - 167,958,566 (+)NCBIHuRef
CHM1_11198,042,727 - 198,138,292 (+)NCBICHM1_1
T2T-CHM13v2.01195,998,386 - 196,093,925 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
age related macular degeneration 4  (EXP,IAGP,ISS)
amphetamine abuse  (IEP,ISO)
anterior uveitis  (IAGP)
atypical hemolytic-uremic syndrome  (EXP,IAGP,IDA,IEP,IMP,ISO,ISS)
Bacteremia  (IDA)
basal laminar drusen  (EXP,IAGP)
brain infarction  (IDA)
C3 Glomerulopathy 3  (IAGP)
cardiovascular system disease  (IAGP)
Cerebral Hemorrhage  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP)
Choroidal Neovascularization  (IAGP,IDA)
chronic kidney disease  (IAGP)
Complement Factor H Deficiency  (EXP,IAGP)
COVID-19  (IAGP)
diabetic retinopathy  (IAGP)
Experimental Arthritis  (ISO)
focal segmental glomerulosclerosis  (IAGP)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
glaucoma  (IEP)
glomerulonephritis  (ISO)
Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency  (IAGP,ISO)
hemolytic-uremic syndrome  (IAGP,ISS)
Hemorrhagic Shock  (IDA,ISO)
Intestinal Ischemia  (ISO)
kidney disease  (IAGP)
Kidney Reperfusion Injury  (IDA,ISO)
Liver Reperfusion Injury  (IDA,ISO)
lupus nephritis  (IAGP)
macular degeneration  (EXP,IAGP)
membranoproliferative glomerulonephritis  (EXP,IAGP,ISS)
membranous glomerulonephritis  (ISO)
Meningococcal Infections  (EXP,IDA)
Multifocal Choroiditis  (IAGP)
multiple sclerosis  (IEP)
nephrosis  (ISO)
obstructive jaundice  (ISO)
panuveitis  (IAGP)
parathyroid carcinoma  (IAGP)
Pneumococcal Infections  (IDA,ISO)
Polypoidal Choroidal Vasculopathy  (IAGP)
posterior uveitis  (IAGP)
primary immunodeficiency disease  (EXP)
proteinuria  (ISO)
psoriasis  (IEP)
Reperfusion Injury  (ISO)
retinal degeneration  (ISO)
retinal detachment  (IAGP)
retinal drusen  (IAGP)
sarcoidosis  (IAGP)
Sepsis  (IDA,ISO)
squamous cell carcinoma  (IEP)
Stroke  (ISO)
Systemic Inflammatory Response Syndrome  (IAGP)
systemic lupus erythematosus  (IAGP)
Thrombotic Microangiopathies  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
astemizole  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
butyric acid  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chlorpromazine  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
clorgyline  (EXP)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (ISO)
dextran sulfate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
diquat  (ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (EXP,ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gentamycin  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
lipopolysaccharide  (EXP)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrofen  (ISO)
olanzapine  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
selenium atom  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sotorasib  (EXP)
tamoxifen  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal morphology of the choroidal vasculature  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Acute kidney injury  (IAGP)
Adult onset  (IAGP)
Anuria  (IAGP)
Aphasia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Back pain  (IAGP)
Cerebral hemorrhage  (IAGP)
Choroidal neovascularization  (IAGP)
Chronic kidney disease  (IAGP)
Cognitive impairment  (IAGP)
Coma  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement factor B concentration  (IAGP)
Decreased circulating complement factor H concentration  (IAGP)
Decreased circulating complement factor I concentration  (IAGP)
Decreased mean corpuscular hemoglobin concentration  (IAGP)
Depletion of components of the alternative complement pathway  (IAGP)
Diarrhea  (IAGP)
Disseminated intravascular coagulation  (IAGP)
Drusen  (IAGP)
Eclampsia  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Epigastric pain  (IAGP)
Exudative retinal detachment  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Focal segmental glomerulosclerosis  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized edema  (IAGP)
Glomerular subendothelial electron-dense deposits  (IAGP)
Granular macular appearance  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemoglobinuria  (IAGP)
Hemolytic anemia  (IAGP)
Hemolytic-uremic syndrome  (IAGP)
Hyperautofluorescent macular lesion  (IAGP)
Hyperlipidemia  (IAGP)
Hypertension  (IAGP)
Hypoautofluorescent macular lesion  (IAGP)
Hypofibrinogenemia  (IAGP)
Hypotension  (IAGP)
Increased blood urea nitrogen  (IAGP)
Increased body weight  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Internal hemorrhage  (IAGP)
Juvenile onset  (IAGP)
Late onset  (IAGP)
Late young adult onset  (IAGP)
Macular atrophy  (IAGP)
Macular degeneration  (IAGP)
Macular drusen  (IAGP)
Macular dystrophy  (IAGP)
Macular hemorrhage  (IAGP)
Macular hyperpigmentation  (IAGP)
Maternal hypertension  (IAGP)
Membranoproliferative glomerulonephritis  (IAGP)
Metamorphopsia  (IAGP)
Microangiopathic hemolytic anemia  (IAGP)
Middle age onset  (IAGP)
Nausea  (IAGP)
Nephropathy  (IAGP)
Paracentral scotoma  (IAGP)
Parathyroid carcinoma  (IAGP)
Perifoveal ring of hyperautofluorescence  (IAGP)
Peripapillary chorioretinal atrophy  (IAGP)
Photophobia  (IAGP)
Placental abruption  (IAGP)
Pleural effusion  (IAGP)
Polygenic inheritance  (IAGP)
Polypoidal choroidal vasculopathy  (IAGP)
Poor wound healing  (IAGP)
Preeclampsia  (IAGP)
Progressive visual loss  (IAGP)
Prolonged prothrombin time  (IAGP)
Proteinuria  (IAGP)
Pulmonary edema  (IAGP)
Purpura  (IAGP)
Recurrent bacterial infections  (IAGP)
Reticular pigmentary degeneration  (IAGP)
Reticulocytosis  (IAGP)
Schistocytosis  (IAGP)
Seizure  (IAGP)
Shoulder pain  (IAGP)
Subretinal fluid  (IAGP)
Thickened glomerular basement membrane  (IAGP)
Thrombocytopenia  (IAGP)
Uveitis  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
Yellow/white lesions of the macula  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients. Abbas RO and Azzazy HM, Ophthalmic Genet. 2013 Jan 30.
2. Genetic variability in complement activation modulates the systemic inflammatory response syndrome in children. Agbeko RS, etal., Pediatr Crit Care Med. 2010 Sep;11(5):561-7.
3. Mouse podocyte complement factor H: the functional analog to human complement receptor 1. Alexander JJ, etal., J Am Soc Nephrol. 2007 Apr;18(4):1157-66. Epub 2007 Mar 7.
4. Complement Factor H Y402H polymorphism is associated with an increased risk of mortality after intracerebral hemorrhage. Appelboom G, etal., J Clin Neurosci. 2011 Nov;18(11):1439-43. Epub 2011 Aug 25.
5. Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Arakawa S, etal., Nat Genet. 2011 Sep 11;43(10):1001-4. doi: 10.1038/ng.938.
6. Targeted inhibition of the complement alternative pathway with complement receptor 2 and factor H attenuates collagen antibody-induced arthritis in mice. Banda NK, etal., J Immunol. 2009 Nov 1;183(9):5928-37. Epub 2009 Oct 14.
7. Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Caprioli J, etal., Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.
8. Adrenomedullin and adrenomedullin-binding protein-1 downregulate inflammatory cytokines and attenuate tissue injury after gut ischemia-reperfusion. Carrizo GJ, etal., Surgery. 2007 Feb;141(2):245-53. Epub 2006 Sep 14.
9. Major single nucleotide polymorphisms in polypoidal choroidal vasculopathy: a comparative analysis between Thai and other Asian populations. Chantaren P, etal., Clin Ophthalmol. 2012;6:465-71. doi: 10.2147/OPTH.S30529. Epub 2012 Mar 22.
10. Peripheral administration of human adrenomedullin and its binding protein attenuates stroke-induced apoptosis and brain injury in rats. Chaung WW, etal., Mol Med. 2011;17(9-10):1075-83. doi: 10.2119/molmed.2010.00104. Epub 2011 Jun 17.
11. 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.
12. CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients. Cruz-Gonzalez F, etal., Ophthalmic Genet. 2013 Mar 27.
13. Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H. Ferrara DC, etal., Arch Ophthalmol. 2008 Nov;126(11):1562-6. doi: 10.1001/archopht.126.11.1562.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Gotoh N, etal., Hum Genet. 2006 Aug;120(1):139-43. Epub 2006 May 19.
16. Binding of complement factor H (fH) to Neisseria meningitidis is specific for human fH and inhibits complement activation by rat and rabbit sera. Granoff DM, etal., Infect Immun. 2009 Feb;77(2):764-9. doi: 10.1128/IAI.01191-08. Epub 2008 Dec 1.
17. Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome. Hofer J, etal., Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15. doi: 10.2215/CJN.01260212. Epub 2012 Dec 14.
18. Complement regulator factor H in multiple sclerosis. Ingram G, etal., J Cell Biochem. 2011 Oct;112(10):2653-4. doi: 10.1002/jcb.23204.
19. Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus. Jonsen A, etal., Arthritis Res Ther. 2011 Dec 15;13(6):R206.
20. Intravitreal human complement factor H in a rat model of laser-induced choroidal neovascularisation. Kim SJ, etal., Br J Ophthalmol. 2013 Mar;97(3):367-70. doi: 10.1136/bjophthalmol-2012-302307. Epub 2012 Dec 19.
21. Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Lau LI, etal., Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3242-6.
22. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Le Quintrec M, etal., Am J Transplant. 2008 Aug;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x. Epub 2008 Jun 28.
23. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Lee KY, etal., Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2613-9. doi: 10.1167/iovs.07-0860.
24. Genetic factors for choroidal neovascularization associated with high myopia. Leveziel N, etal., Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):5004-9. doi: 10.1167/iovs.12-9538.
25. 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.
26. Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. Ohali M, etal., Pediatr Nephrol. 1998 Oct;12(8):619-24.
27. Increased plasma concentrations of complement modulating proteins (C1 inhibitor, C4-binding protein, factor H and factor I) in psoriasis. Ohkohchi K, etal., Tohoku J Exp Med. 1988 Apr;154(4):315-21.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. 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.
30. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
31. Purification and characterization of human adrenomedullin binding protein-1. Qiang X, etal., Mol Med. 2008 Jul-Aug;14(7-8):443-50. doi: 10.2119/2008-00015.Qiang.
32. 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.
33. A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Raychaudhuri S, etal., Nat Genet. 2011 Oct 23;43(12):1232-6. doi: 10.1038/ng.976.
34. Rat glomerular epithelial cells produce and bear factor H on their surface that is up-regulated under complement attack. Ren G, etal., Kidney Int. 2003 Sep;64(3):914-22.
35. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
36. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
37. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
38. Complement factor H: a biomarker for progression of cutaneous squamous cell carcinoma. Riihila PM, etal., J Invest Dermatol. 2014 Feb;134(2):498-506. doi: 10.1038/jid.2013.346. Epub 2013 Aug 12.
39. Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. Seddon JM, etal., Invest Ophthalmol Vis Sci. 2009 Feb;50(2):586-91. doi: 10.1167/iovs.08-2514. Epub 2008 Oct 20.
40. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. Seddon JM, etal., JAMA. 2007 Apr 25;297(16):1793-800.
41. Attenuation of renal ischemia and reperfusion injury by human adrenomedullin and its binding protein. Shah KG, etal., J Surg Res. 2010 Sep;163(1):110-7. doi: 10.1016/j.jss.2010.03.064. Epub 2010 Apr 24.
42. Fusion protein comprising factor H domains 6 and 7 and human IgG1 Fc as an antibacterial immunotherapeutic. Shaughnessy J, etal., Clin Vaccine Immunol. 2014 Oct;21(10):1452-9. doi: 10.1128/CVI.00444-14. Epub 2014 Aug 20.
43. Serum proteomics of methamphetamine addicts and up-regulation of complement factor H related to methamphetamine addiction. Shi WL, etal., Neurosci Lett. 2012 Sep 6;525(1):23-8. doi: 10.1016/j.neulet.2012.07.026. Epub 2012 Jul 31.
44. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Souied EH, etal., Mol Vis. 2005 Dec 19;11:1135-40.
45. Oxidative stress and the regulation of complement activation in human glaucoma. Tezel G, etal., Invest Ophthalmol Vis Sci. 2010 Oct;51(10):5071-82. doi: 10.1167/iovs.10-5289. Epub 2010 May 19.
46. Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis. Thompson IA, etal., Am J Ophthalmol. 2013 Jun;155(6):1068-1074.e1. doi: 10.1016/j.ajo.2013.01.019. Epub 2013 Mar 14.
47. [Role of CFH and ARMS2 polymorphisms in retinopathy and coronary artery disease in type 1 diabetes]. Toni M, etal., An Sist Sanit Navar. 2012 Sep-Dec;35(3):425-32.
48. Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. van de Ven JP, etal., Arch Ophthalmol. 2012 Aug;130(8):1038-47.
49. Complement Factor H Serum Levels Determine Resistance to Pneumococcal Invasive Disease. van der Maten E, etal., J Infect Dis. 2016 Jun 1;213(11):1820-7. doi: 10.1093/infdis/jiw029. Epub 2016 Jan 21.
50. Enhanced bacteremia in human factor H transgenic rats infected by Neisseria meningitidis. Vu DM, etal., Infect Immun. 2012 Feb;80(2):643-50. doi: 10.1128/IAI.05604-11. Epub 2011 Nov 21.
51. Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients. Wang J, etal., Mediators Inflamm. 2013;2013:748435. doi: 10.1155/2013/748435. Epub 2013 Jun 24.
52. Mechanisms responsible for vascular hyporesponsiveness to adrenomedullin after hemorrhage: the central role of adrenomedullin binding protein-1. Wu R, etal., Ann Surg. 2005 Jul;242(1):115-23.
53. Reversing established sepsis in rats with human vasoactive hormone adrenomedullin and its binding protein. Wu R, etal., Mol Med. 2009 Jan-Feb;15(1-2):28-33. doi: 10.2119/molmed.2008.00092. Epub 2008 Oct 10.
54. Human vasoactive hormone adrenomedullin and its binding protein rescue experimental animals from shock. Wu R, etal., Peptides. 2008 Jul;29(7):1223-30. doi: 10.1016/j.peptides.2008.02.021. Epub 2008 Mar 8.
55. Human adrenomedullin and its binding protein attenuate organ injury and reduce mortality after hepatic ischemia-reperfusion. Yang J, etal., Ann Surg. 2009 Feb;249(2):310-7. doi: 10.1097/SLA.0b013e3181961d43.
56. Human adrenomedullin and its binding protein ameliorate sepsis-induced organ injury and mortality in jaundiced rats. Yang J, etal., Peptides. 2010 May;31(5):872-7. doi: 10.1016/j.peptides.2010.01.010. Epub 2010 Feb 2.
57. Association of C2 and CFB polymorphisms with anterior uveitis. Yang MM, etal., Invest Ophthalmol Vis Sci. 2012 Jul 27;53(8):4969-74. doi: 10.1167/iovs.12-9478.
58. Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Ying L, etal., Am J Hum Genet. 1999 Dec;65(6):1538-46.
59. Factor h and properdin recognize different epitopes on renal tubular epithelial heparan sulfate. Zaferani A, etal., J Biol Chem. 2012 Sep 7;287(37):31471-81. doi: 10.1074/jbc.M112.380386. Epub 2012 Jul 19.
60. Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. Zhao J, etal., PLoS Genet. 2011 May;7(5):e1002079. Epub 2011 May 26.
Additional References at PubMed
PMID:1401896   PMID:1533152   PMID:1826264   PMID:1826708   PMID:1828229   PMID:1829116   PMID:2445583   PMID:2527799   PMID:2529127   PMID:2889480   PMID:2937845   PMID:2946589  
PMID:2952588   PMID:2963625   PMID:2968404   PMID:2968949   PMID:2977721   PMID:3782802   PMID:6215918   PMID:7492444   PMID:7535292   PMID:7576914   PMID:7590866   PMID:7893437  
PMID:8125298   PMID:8172644   PMID:8331663   PMID:8663389   PMID:9291131   PMID:9312129   PMID:9551389   PMID:9558116   PMID:9988761   PMID:10377245   PMID:10380701   PMID:10490997  
PMID:10762557   PMID:10781834   PMID:10803850   PMID:11116141   PMID:11158219   PMID:11170895   PMID:11170896   PMID:11367528   PMID:11367530   PMID:11367533   PMID:11446651   PMID:11446652  
PMID:11644971   PMID:11825898   PMID:11851332   PMID:11921353   PMID:12020532   PMID:12391176   PMID:12424708   PMID:12471127   PMID:12477932   PMID:12630812   PMID:12960213   PMID:14638802  
PMID:14702039   PMID:14760718   PMID:14974950   PMID:15163532   PMID:15174051   PMID:15331938   PMID:15342556   PMID:15489334   PMID:15557185   PMID:15634279   PMID:15749837   PMID:15754282  
PMID:15761120   PMID:15761121   PMID:15761122   PMID:15784724   PMID:15870199   PMID:15895326   PMID:16170519   PMID:16174643   PMID:16192651   PMID:16229850   PMID:16263173   PMID:16267773  
PMID:16299065   PMID:16300415   PMID:16310045   PMID:16335952   PMID:16341674   PMID:16386793   PMID:16431947   PMID:16470555   PMID:16519819   PMID:16528247   PMID:16533809   PMID:16541016  
PMID:16612335   PMID:16621965   PMID:16630992   PMID:16642439   PMID:16710414   PMID:16723442   PMID:16730735   PMID:16751403   PMID:16754848   PMID:16774956   PMID:16785547   PMID:16787919  
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PMID:16936733   PMID:16954704   PMID:17000705   PMID:17003406   PMID:17022693   PMID:17056561   PMID:17076561   PMID:17079491   PMID:17132743   PMID:17137217   PMID:17151483   PMID:17157600  
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PMID:17306880   PMID:17314151   PMID:17339482   PMID:17352366   PMID:17360715   PMID:17362990   PMID:17396242   PMID:17398321   PMID:17399790   PMID:17426452   PMID:17438519   PMID:17438673  
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PMID:19306911   PMID:19308255   PMID:19336370   PMID:19336475   PMID:19344414   PMID:19351878   PMID:19388158   PMID:19399715   PMID:19428307   PMID:19454698   PMID:19503104   PMID:19505474  
PMID:19505476   PMID:19508377   PMID:19531976   PMID:19540598   PMID:19541934   PMID:19549636   PMID:19567623   PMID:19568762   PMID:19625176   PMID:19632990   PMID:19646183   PMID:19680263  
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Genomics

Comparative Map Data
CFH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381196,652,043 - 196,747,504 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1196,651,754 - 196,752,476 (+)EnsemblGRCh38hg38GRCh38
GRCh371196,621,173 - 196,716,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361194,887,764 - 194,983,257 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,352,831 - 193,448,257NCBI
Celera1169,729,995 - 169,825,611 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1167,862,965 - 167,958,566 (+)NCBIHuRef
CHM1_11198,042,727 - 198,138,292 (+)NCBICHM1_1
T2T-CHM13v2.01195,998,386 - 196,093,925 (+)NCBIT2T-CHM13v2.0
Cfh
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391140,013,593 - 140,111,149 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1140,012,446 - 140,111,502 (-)EnsemblGRCm39 Ensembl
GRCm381140,085,855 - 140,183,411 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1140,084,708 - 140,183,764 (-)EnsemblGRCm38mm10GRCm38
MGSCv371141,982,432 - 142,079,988 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361141,902,290 - 141,999,733 (-)NCBIMGSCv36mm8
Celera1142,720,865 - 142,812,024 (-)NCBICelera
Cytogenetic Map1FNCBI
cM Map161.62NCBI
Cfh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81354,063,079 - 54,164,523 (-)NCBIGRCr8
mRatBN7.21351,512,376 - 51,613,829 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1351,511,828 - 51,613,838 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1354,104,450 - 54,199,522 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01355,392,371 - 55,487,454 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01352,655,305 - 52,757,017 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01356,979,155 - 57,080,540 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1356,978,607 - 57,080,622 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01361,997,444 - 62,094,826 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41353,252,249 - 53,355,987 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11353,266,346 - 53,370,041 (-)NCBI
Celera1351,770,541 - 51,871,522 (-)NCBICelera
Cytogenetic Map13q13NCBI
CFH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2153,056,725 - 53,152,308 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1152,576,787 - 52,757,831 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01172,155,882 - 172,251,632 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11176,434,107 - 176,507,049 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1176,455,247 - 176,525,521 (+)Ensemblpanpan1.1panPan2
CFH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1382,878,677 - 2,956,226 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha382,970,756 - 3,047,389 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0382,876,209 - 2,953,077 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl382,875,485 - 2,953,035 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1382,869,120 - 2,945,692 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0383,262,568 - 3,340,656 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0383,463,162 - 3,540,549 (-)NCBIUU_Cfam_GSD_1.0
CFH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.21024,337,539 - 24,406,888 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CFH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12532,557,697 - 32,744,763 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605533,547,560 - 33,658,543 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cfh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247983,332,549 - 3,414,435 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CFH
834 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000186.4(CFH):c.769C>T (p.Arg257Cys) single nucleotide variant not provided [RCV001507513] Chr1:196679772 [GRCh38]
Chr1:196648902 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr) single nucleotide variant Age related macular degeneration 4 [RCV001100835]|Basal laminar drusen [RCV001100832]|Basal laminar drusen [RCV002481721]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001100833]|Factor H deficiency [RCV003449494]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001100834]|not provided [RCV000521419] Chr1:196741946 [GRCh38]
Chr1:196711076 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa) deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018012] Chr1:196747291..196747314 [GRCh38]
Chr1:196716421..196716444 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.83_86del (p.Arg28fs) deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018019] Chr1:196673000..196673003 [GRCh38]
Chr1:196642130..196642133 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.668AGA[1] (p.Lys224del) microsatellite Factor H deficiency [RCV000018022] Chr1:196679671..196679673 [GRCh38]
Chr1:196648801..196648803 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.1111C>A (p.His371Asn) single nucleotide variant Age related macular degeneration 4 [RCV003451770]|Basal laminar drusen [RCV003451769]|Factor H deficiency [RCV003451768]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003451767]|not provided [RCV001507514] Chr1:196689566 [GRCh38]
Chr1:196658696 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2517C>A (p.Cys839Ter) single nucleotide variant Chronic kidney disease [RCV001171329]|Factor H deficiency [RCV001171500]|not provided [RCV000722181] Chr1:196736927 [GRCh38]
Chr1:196706057 [GRCh37]
Chr1:1q31.3		 pathogenic|likely pathogenic|uncertain significance
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu) single nucleotide variant not provided [RCV000722277] Chr1:196726623 [GRCh38]
Chr1:196695753 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.402G>C (p.Trp134Cys) single nucleotide variant not provided [RCV000722492] Chr1:196676040 [GRCh38]
Chr1:196645170 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.1312_1314del (p.Pro438del) deletion not provided [RCV000722627] Chr1:196690213..196690215 [GRCh38]
Chr1:196659343..196659345 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2573G>A (p.Trp858Ter) single nucleotide variant not provided [RCV000722695] Chr1:196736983 [GRCh38]
Chr1:196706113 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.958T>C (p.Cys320Arg) single nucleotide variant not provided [RCV000722540] Chr1:196685231 [GRCh38]
Chr1:196654361 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) single nucleotide variant Atypical hemolytic-uremic syndrome [RCV001328244]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018008] Chr1:196747260 [GRCh38]
Chr1:196716390 [GRCh37]
Chr1:1q31.3		 pathogenic|risk factor
NM_000186.4(CFH):c.1606T>C (p.Cys536Arg) single nucleotide variant Factor H deficiency [RCV000018009] Chr1:196715679 [GRCh38]
Chr1:196684809 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr) single nucleotide variant Factor H deficiency [RCV000018010] Chr1:196740712 [GRCh38]
Chr1:196709842 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) single nucleotide variant Basal laminar drusen [RCV002496396]|CFH-related disorder [RCV004528119]|Factor H deficiency [RCV003450644]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018011]|not provided [RCV001843942] Chr1:196747189 [GRCh38]
Chr1:196716319 [GRCh37]
Chr1:1q31.3		 pathogenic|risk factor|conflicting data from submitters
NM_000186.4(CFH):c.565G>T (p.Glu189Ter) single nucleotide variant Factor H deficiency [RCV000018013] Chr1:196677613 [GRCh38]
Chr1:196646743 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018014] Chr1:196747183 [GRCh38]
Chr1:196716313 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.1204= (p.His402=) single nucleotide variant Age related macular degeneration 4 [RCV000018015]|Basal laminar drusen [RCV000018016] Chr1:196690107 [GRCh38]
Chr1:196659237 [GRCh37]
Chr1:1q31.3		 pathogenic|risk factor
NM_000186.4(CFH):c.184G>A (p.Val62Ile) single nucleotide variant Age related macular degeneration 4 [RCV000018017]|Basal laminar drusen [RCV000274380]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000331871]|Factor H deficiency [RCV001579191]|Focal segmental glomerulosclerosis [RCV002293982]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000374816]|not provided [RCV000190297] Chr1:196673103 [GRCh38]
Chr1:196673103..196673104 [GRCh38]
Chr1:196642233 [GRCh37]
Chr1:196642233..196642234 [GRCh37]
Chr1:1q31.3		 risk factor|benign|not provided
NM_000186.4(CFH):c.1291T>A (p.Cys431Ser) single nucleotide variant Factor H deficiency [RCV000018018] Chr1:196690194 [GRCh38]
Chr1:196659324 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018020] Chr1:196737575 [GRCh38]
Chr1:196706705 [GRCh37]
Chr1:1q31.3		 pathogenic|risk factor
NM_000186.4(CFH):c.380G>T (p.Arg127Leu) single nucleotide variant Factor H deficiency [RCV000018021] Chr1:196676018 [GRCh38]
Chr1:196645148 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.1419G>C (p.Ala473=) single nucleotide variant Age related macular degeneration 4 [RCV000018023] Chr1:196713817 [GRCh38]
Chr1:196682947 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.2237-543= single nucleotide variant Age related macular degeneration 4 [RCV000018024] Chr1:196727803 [GRCh38]
Chr1:196696933 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) single nucleotide variant Age related macular degeneration 4 [RCV000022540]|Atypical hemolytic-uremic syndrome [RCV001328126]|Basal laminar drusen [RCV001099304]|Basal laminar drusen [RCV001536004]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001099303]|Factor H deficiency [RCV000018025]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018026]|Kidney disorder [RCV002293983]|not provided [RCV001508947] Chr1:196747245 [GRCh38]
Chr1:196716375 [GRCh37]
Chr1:1q31.3		 pathogenic|risk factor|likely benign|uncertain significance
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018027] Chr1:196747131 [GRCh38]
Chr1:196716261 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter) single nucleotide variant Basal laminar drusen [RCV000018028] Chr1:196690125 [GRCh38]
Chr1:196659255 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) single nucleotide variant Basal laminar drusen [RCV000018029]|not provided [RCV001723576] Chr1:196743552 [GRCh38]
Chr1:196712682 [GRCh37]
Chr1:1q31.3		 pathogenic|uncertain significance
NM_000186.4(CFH):c.350+6T>G single nucleotide variant Basal laminar drusen [RCV000018030] Chr1:196673968 [GRCh38]
Chr1:196643098 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000018031] Chr1:196747209 [GRCh38]
Chr1:196716339 [GRCh37]
Chr1:1q31.3		 risk factor
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) single nucleotide variant Basal laminar drusen [RCV002490396]|Factor H deficiency [RCV003450649]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000020180]|not provided [RCV001843943] Chr1:196747207 [GRCh38]
Chr1:196716337 [GRCh37]
Chr1:1q31.3		 pathogenic|likely pathogenic
NM_000186.3(CFH):c.58+7957A>G single nucleotide variant Lung cancer [RCV000090325] Chr1:196660132 [GRCh38]
Chr1:196629262 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.3(CFH):c.2413+2667G>C single nucleotide variant Lung cancer [RCV000090326] Chr1:196731189 [GRCh38]
Chr1:196700319 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1		 pathogenic
NM_000186.3(CFH):c.2059G>A (p.Glu687Lys) single nucleotide variant Malignant melanoma [RCV000064415] Chr1:196726763 [GRCh38]
Chr1:196695893 [GRCh37]
Chr1:194962516 [NCBI36]
Chr1:1q31.3		 not provided
NM_000186.3(CFH):c.2086G>A (p.Glu696Lys) single nucleotide variant Malignant melanoma [RCV000064416] Chr1:196726790 [GRCh38]
Chr1:196695920 [GRCh37]
Chr1:194962543 [NCBI36]
Chr1:1q31.3		 not provided
NM_000186.3(CFH):c.2924G>A (p.Gly975Glu) single nucleotide variant Malignant melanoma [RCV000064417] Chr1:196740760 [GRCh38]
Chr1:196709890 [GRCh37]
Chr1:194976513 [NCBI36]
Chr1:1q31.3		 not provided
NM_000186.3(CFH):c.3580G>A (p.Gly1194Ser) single nucleotide variant Malignant melanoma [RCV000064418] Chr1:196747197 [GRCh38]
Chr1:196716327 [GRCh37]
Chr1:194982950 [NCBI36]
Chr1:1q31.3		 not provided
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys) single nucleotide variant Age related macular degeneration 4 [RCV003451979]|Basal laminar drusen [RCV002489924]|Basal laminar drusen [RCV003451978]|Factor H deficiency [RCV003451977]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003451976]|not provided [RCV002035197] Chr1:196725168 [GRCh38]
Chr1:196694298 [GRCh37]
Chr1:194960921 [NCBI36]
Chr1:1q31.3		 uncertain significance|not provided
NM_000186.4(CFH):c.1860C>T (p.Leu620=) single nucleotide variant not provided [RCV003690767] Chr1:196725284 [GRCh38]
Chr1:196694414 [GRCh37]
Chr1:194961037 [NCBI36]
Chr1:1q31.3		 likely benign|not provided
NM_000186.3(CFH):c.2360G>A (p.Trp787Ter) single nucleotide variant Malignant melanoma [RCV000060028] Chr1:196728469 [GRCh38]
Chr1:196697599 [GRCh37]
Chr1:194964222 [NCBI36]
Chr1:1q31.3		 not provided
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer) deletion Factor H deficiency [RCV003126313] Chr1:196743491..196743500 [GRCh38]
Chr1:196712621..196712630 [GRCh37]
Chr1:1q31.3		 likely pathogenic
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000256395] Chr1:196740786 [GRCh38]
Chr1:196709916 [GRCh37]
Chr1:1q31.3		 pathogenic|likely pathogenic
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000020179] Chr1:196743798..196828364 [GRCh38]
Chr1:196712928..196797494 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) single nucleotide variant Age related macular degeneration 4 [RCV000144906]|Atypical hemolytic-uremic syndrome [RCV002294043]|Basal laminar drusen [RCV003453105]|Factor H deficiency [RCV003453104]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003453103]|not provided [RCV001857495] Chr1:196713905 [GRCh38]
Chr1:196683035 [GRCh37]
Chr1:1q31.3		 risk factor|uncertain significance
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1		 pathogenic
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 copy number loss See cases [RCV000135432] Chr1:195514309..197896494 [GRCh38]
Chr1:195483439..197865624 [GRCh37]
Chr1:193750062..196132247 [NCBI36]
Chr1:1q31.3		 pathogenic
GRCh38/hg38 1q31.3(chr1:196301629-196775650)x1 copy number loss See cases [RCV000143144] Chr1:196301629..196775650 [GRCh38]
Chr1:196270759..196744780 [GRCh37]
Chr1:194537382..195011403 [NCBI36]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.*14G>A single nucleotide variant Age related macular degeneration 4 [RCV000333980]|Basal laminar drusen [RCV000372354]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000318079]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000260568] Chr1:196747327 [GRCh38]
Chr1:196716457 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.3(CFH):c.-175T>C single nucleotide variant Age related macular degeneration 4 [RCV000383036]|Basal laminar drusen [RCV000361485]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000264506]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000321924] Chr1:196651943 [GRCh38]
Chr1:196621073 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.3(CFH):c.-195T>C single nucleotide variant Age related macular degeneration 4 [RCV000260723]|Basal laminar drusen [RCV000300764]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000304428]|Factor H deficiency [RCV003445833]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000353244]|not provided [RCV001668645] Chr1:196651923 [GRCh38]
Chr1:196621053 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) single nucleotide variant Age related macular degeneration 4 [RCV001100831]|Atypical hemolytic-uremic syndrome [RCV002294237]|Basal laminar drusen [RCV001099016]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001099015]|Factor H deficiency [RCV003454849]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000403546]|not provided [RCV001515406] Chr1:196741937 [GRCh38]
Chr1:196711067 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) single nucleotide variant Age related macular degeneration 4 [RCV000405951]|Basal laminar drusen [RCV000352680]|Basal laminar drusen [RCV002502167]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000293012]|Factor H deficiency [RCV003454843]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000299048]|not provided [RCV001520108] Chr1:196736919 [GRCh38]
Chr1:196706049 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) single nucleotide variant Age related macular degeneration 4 [RCV000388133]|Basal laminar drusen [RCV000330790]|Basal laminar drusen [RCV002504034]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000296097]|Factor H deficiency [RCV003454855]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000334829]|Inborn genetic diseases [RCV004021406]|not provided [RCV001701937] Chr1:196743496 [GRCh38]
Chr1:196712626 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile) single nucleotide variant Age related macular degeneration 4 [RCV000386050]|Basal laminar drusen [RCV000351147]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000373406]|Factor H deficiency [RCV003454847]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000296279]|not provided [RCV002522087] Chr1:196737517 [GRCh38]
Chr1:196706647 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.3310+12T>C single nucleotide variant Age related macular degeneration 4 [RCV000405879]|Basal laminar drusen [RCV000308000]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000303163]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000361627] Chr1:196743640 [GRCh38]
Chr1:196712770 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.1428A>G (p.Gln476=) single nucleotide variant Age related macular degeneration 4 [RCV000303824]|Basal laminar drusen [RCV000339978]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000402427]|Factor H deficiency [RCV003454840]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000304863]|not provided [RCV000967923] Chr1:196713826 [GRCh38]
Chr1:196682956 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.1204C>T (p.His402Tyr) single nucleotide variant Age related macular degeneration 4 [RCV000327040]|Atypical hemolytic-uremic syndrome [RCV002294225]|Basal laminar drusen [RCV000296616]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000349294]|Factor H deficiency [RCV001579193]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000388493]|not provided [RCV001521610] Chr1:196690107 [GRCh38]
Chr1:196690107..196690108 [GRCh38]
Chr1:196659237 [GRCh37]
Chr1:196659237..196659238 [GRCh37]
Chr1:1q31.3		 benign|conflicting interpretations of pathogenicity
NM_000186.4(CFH):c.770G>A (p.Arg257His) single nucleotide variant Age related macular degeneration 4 [RCV000406363]|Atypical hemolytic-uremic syndrome [RCV002294223]|Basal laminar drusen [RCV000312490]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000336891]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000297641]|not provided [RCV001859772] Chr1:196679773 [GRCh38]
Chr1:196648903 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.477T>C (p.Ser159=) single nucleotide variant Age related macular degeneration 4 [RCV000352136]|Basal laminar drusen [RCV000294971]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000404411]|Factor H deficiency [RCV003454839]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000392316]|not provided [RCV000967922] Chr1:196677525 [GRCh38]
Chr1:196646655 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3138C>T (p.Thr1046=) single nucleotide variant Age related macular degeneration 4 [RCV000404495]|Basal laminar drusen [RCV000391333]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000352377]|Factor H deficiency [RCV003454852]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000295182]|Kidney disorder [RCV002294239]|not provided [RCV004713564]|not specified [RCV001529000] Chr1:196743456 [GRCh38]
Chr1:196712586 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) single nucleotide variant Age related macular degeneration 4 [RCV000403627]|Atypical hemolytic-uremic syndrome [RCV002294240]|Basal laminar drusen [RCV000302390]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000298640]|Factor H deficiency [RCV003454853]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000355977]|Thrombotic microangiopathy [RCV001849180]|not provided [RCV001723878]|not specified [RCV001701992] Chr1:196743466 [GRCh38]
Chr1:196712596 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2784C>A (p.Gly928=) single nucleotide variant Age related macular degeneration 4 [RCV000301863]|Basal laminar drusen [RCV000406782]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000338500]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000342703]|not provided [RCV003718151] Chr1:196740620 [GRCh38]
Chr1:196709750 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.1935G>T (p.Thr645=) single nucleotide variant Age related macular degeneration 4 [RCV000377609]|Basal laminar drusen [RCV000342789]|Basal laminar drusen [RCV002502166]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000391977]|Factor H deficiency [RCV003454842]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000283124]|not provided [RCV000907311] Chr1:196726531 [GRCh38]
Chr1:196695661 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) single nucleotide variant Age related macular degeneration 4 [RCV000318018]|Basal laminar drusen [RCV000355052]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000356426]|CFH-related disorder [RCV004537636]|Factor H deficiency [RCV003454851]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000260498]|not provided [RCV000946542]|not specified [RCV001820848] Chr1:196742020 [GRCh38]
Chr1:196711150 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2196G>A (p.Thr732=) single nucleotide variant Age related macular degeneration 4 [RCV000356749]|Basal laminar drusen [RCV000265889]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000260677]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000316028]|not provided [RCV002059407] Chr1:196726900 [GRCh38]
Chr1:196696030 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.428-14T>C single nucleotide variant Age related macular degeneration 4 [RCV000283207]|Basal laminar drusen [RCV000322899]|Basal laminar drusen [RCV002502165]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000379854]|Factor H deficiency [RCV003445836]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000260797]|not provided [RCV001519041]|not specified [RCV001699426] Chr1:196677462 [GRCh38]
Chr1:196646592 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) single nucleotide variant Age related macular degeneration 4 [RCV000388064]|Atypical hemolytic-uremic syndrome [RCV002294235]|Basal laminar drusen [RCV000315933]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000260915]|CFH-related disorder [RCV004537633]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000375168]|Non-immunoglobulin-mediated membranoproliferative glomerulonephritis [RCV001849179]|not provided [RCV000835731]|not specified [RCV003987498] Chr1:196740703 [GRCh38]
Chr1:196709833 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu) single nucleotide variant Age related macular degeneration 4 [RCV000272971]|Basal laminar drusen [RCV000365042]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000311659]|Factor H deficiency [RCV003454857]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000368790]|not provided [RCV000967925] Chr1:196745933 [GRCh38]
Chr1:196715063 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.2236+8T>A single nucleotide variant Age related macular degeneration 4 [RCV000291752]|Atypical hemolytic-uremic syndrome [RCV002294230]|Basal laminar drusen [RCV000392315]|Basal laminar drusen [RCV002494910]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000381483]|Factor H deficiency [RCV003445838]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000346659]|not provided [RCV000955823] Chr1:196726948 [GRCh38]
Chr1:196696078 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3134-7T>C single nucleotide variant Age related macular degeneration 4 [RCV000291862]|Basal laminar drusen [RCV000349188]|Basal laminar drusen [RCV002494912]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000327143]|Factor H deficiency [RCV003445840]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000383900] Chr1:196743445 [GRCh38]
Chr1:196712575 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2850G>T (p.Gln950His) single nucleotide variant Age related macular degeneration 4 [RCV000333684]|Atypical hemolytic-uremic syndrome [RCV002294234]|Basal laminar drusen [RCV000273876]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000367943]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000308622]|not provided [RCV000972577]|not specified [RCV000735110] Chr1:196740686 [GRCh38]
Chr1:196709816 [GRCh37]
Chr1:1q31.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr) single nucleotide variant Age related macular degeneration 4 [RCV000275297]|Atypical hemolytic-uremic syndrome [RCV002294227]|Basal laminar drusen [RCV000389657]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000330389]|Factor H deficiency [RCV003454841]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000276555]|not provided [RCV000967924] Chr1:196715725 [GRCh38]
Chr1:196684855 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.350+9T>C single nucleotide variant Age related macular degeneration 4 [RCV000275307]|Basal laminar drusen [RCV000367397]|Basal laminar drusen [RCV002502164]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000318678]|CFH-related disorder [RCV004543160]|Factor H deficiency [RCV003445835]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000353294]|not provided [RCV002059406] Chr1:196673971 [GRCh38]
Chr1:196643101 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) single nucleotide variant CFH-related disorder [RCV004529481] Chr1:196747260 [GRCh38]
Chr1:196716390 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) single nucleotide variant Age related macular degeneration 4 [RCV000277825]|Basal laminar drusen [RCV000314205]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000367661]|CFH-related disorder [RCV004537635]|Factor H deficiency [RCV003454850]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000312891]|not provided [RCV000882544]|not specified [RCV001699427] Chr1:196741968 [GRCh38]
Chr1:196711098 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3133+8G>T single nucleotide variant Age related macular degeneration 4 [RCV000323637]|Atypical hemolytic-uremic syndrome [RCV002294238]|Basal laminar drusen [RCV000263996]|Basal laminar drusen [RCV002504032]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000380655]|CFH-related disorder [RCV004537637]|Factor H deficiency [RCV003445839]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000288582]|not provided [RCV000901974]|not specified [RCV001699428] Chr1:196742059 [GRCh38]
Chr1:196711189 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.245-7G>A single nucleotide variant Age related macular degeneration 4 [RCV000372645]|Atypical hemolytic-uremic syndrome [RCV002294222]|Basal laminar drusen [RCV000343404]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000286150]|Factor H deficiency [RCV003445834]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000315650]|not provided [RCV001510288]|not specified [RCV001723877] Chr1:196673850 [GRCh38]
Chr1:196642980 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2634C>T (p.His878=) single nucleotide variant Age related macular degeneration 4 [RCV000270786]|Atypical hemolytic-uremic syndrome [RCV002294231]|Basal laminar drusen [RCV000324850]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000265103]|Factor H deficiency [RCV003454845]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000360899]|not provided [RCV001511393]|not specified [RCV000727604] Chr1:196737512 [GRCh38]
Chr1:196706642 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) single nucleotide variant Age related macular degeneration 4 [RCV001097176]|Atypical hemolytic-uremic syndrome [RCV002294232]|Basal laminar drusen [RCV001098918]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098917]|Factor H deficiency [RCV003454848]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000278870]|not provided [RCV001515405] Chr1:196737547 [GRCh38]
Chr1:196706677 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) single nucleotide variant Age related macular degeneration 4 [RCV000344087]|Atypical hemolytic-uremic syndrome [RCV002294228]|Basal laminar drusen [RCV000309119]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000403698]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000289073]|not provided [RCV001317993] Chr1:196726545 [GRCh38]
Chr1:196695675 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.1160-15T>C single nucleotide variant Age related macular degeneration 4 [RCV000384865]|Basal laminar drusen [RCV000265985]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000328033]|Factor H deficiency [RCV003445837]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000269637]|not provided [RCV001516336] Chr1:196690048 [GRCh38]
Chr1:196659178 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) single nucleotide variant Age related macular degeneration 4 [RCV000266613]|Basal laminar drusen [RCV000359462]|Basal laminar drusen [RCV002504033]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000362490]|Factor H deficiency [RCV003454854]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000324131]|Inborn genetic diseases [RCV004021405]|not provided [RCV001701841] Chr1:196743490 [GRCh38]
Chr1:196712620 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) single nucleotide variant Age related macular degeneration 4 [RCV000338097]|Basal laminar drusen [RCV000393996]|Basal laminar drusen [RCV002480065]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000391542]|Factor H deficiency [RCV003454856]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000280699]|not provided [RCV001727671]|not specified [RCV001699339] Chr1:196743525 [GRCh38]
Chr1:196712655 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2957-7A>G single nucleotide variant Age related macular degeneration 4 [RCV000340481]|Basal laminar drusen [RCV000286931]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000376768]|CFH-related disorder [RCV004537634]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000280777]|not provided [RCV002059408] Chr1:196741868 [GRCh38]
Chr1:196710998 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.921A>C (p.Ala307=) single nucleotide variant Age related macular degeneration 4 [RCV000267123]|Atypical hemolytic-uremic syndrome [RCV002294224]|Basal laminar drusen [RCV000305955]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000354801]|Factor H deficiency [RCV001579192]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000358116]|not provided [RCV001521609] Chr1:196685194 [GRCh38]
Chr1:196654324 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.1419G>A (p.Ala473=) single nucleotide variant Age related macular degeneration 4 [RCV000281469]|Atypical hemolytic-uremic syndrome [RCV002294226]|Basal laminar drusen [RCV000404891]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000338900]|Factor H deficiency [RCV001579194]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000387444]|not provided [RCV001521611] Chr1:196713817 [GRCh38]
Chr1:196682947 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.1736T>C (p.Val579Ala) single nucleotide variant Age related macular degeneration 4 [RCV000372197]|Basal laminar drusen [RCV000282381]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000336971]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000317574]|not provided [RCV001850509] Chr1:196725160 [GRCh38]
Chr1:196694290 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) single nucleotide variant Age related macular degeneration 4 [RCV000364256]|Basal laminar drusen [RCV000269675]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000365181]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000310698]|not provided [RCV001508934] Chr1:196715621 [GRCh38]
Chr1:196684751 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr) single nucleotide variant Age related macular degeneration 4 [RCV000292141]|Atypical hemolytic-uremic syndrome [RCV002294218]|Basal laminar drusen [RCV000327390]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000384228]|Factor H deficiency [RCV003454823]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000270018]|not provided [RCV001642894]|not specified [RCV000363925] Chr1:196743494 [GRCh38]
Chr1:196712624 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2637A>G (p.Gly879=) single nucleotide variant Age related macular degeneration 4 [RCV000331481]|Basal laminar drusen [RCV000325774]|Basal laminar drusen [RCV002504031]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000385113]|Factor H deficiency [RCV003454846]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000272015]|not provided [RCV000907312] Chr1:196737515 [GRCh38]
Chr1:196706645 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp) single nucleotide variant Age related macular degeneration 4 [RCV000307823]|Basal laminar drusen [RCV000272281]|Basal laminar drusen [RCV002494911]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000362551]|Factor H deficiency [RCV001579061]|Focal segmental glomerulosclerosis [RCV002294233]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000406400]|not provided [RCV001513114]|not specified [RCV001701991] Chr1:196740644 [GRCh38]
Chr1:196709774 [GRCh37]
Chr1:1q31.3		 benign
GRCh38/hg38 1q31.3(chr1:196608263-197002575)x1 copy number loss Breast ductal adenocarcinoma [RCV000207061] Chr1:196608263..197002575 [GRCh38]
Chr1:196577392..196971704 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh38/hg38 1q31.3(chr1:196743467-196912909)x1 copy number loss Premature ovarian failure [RCV000225202] Chr1:196743467..196912909 [GRCh38]
Chr1:196712596..196882038 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.285T>C (p.Thr95=) single nucleotide variant Age related macular degeneration 4 [RCV000364080]|Basal laminar drusen [RCV000315031]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000395440]|CFH-related disorder [RCV004543159]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000306968]|not provided [RCV000900050] Chr1:196673897 [GRCh38]
Chr1:196643027 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) single nucleotide variant Age related macular degeneration 4 [RCV000347912]|Atypical hemolytic-uremic syndrome [RCV002294236]|Basal laminar drusen [RCV000341877]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000408202]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000307054]|not provided [RCV001850510]|not specified [RCV004701396] Chr1:196741922 [GRCh38]
Chr1:196711052 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.2016A>G (p.Gln672=) single nucleotide variant Age related macular degeneration 4 [RCV000369491]|Basal laminar drusen [RCV000314917]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000368440]|Factor H deficiency [RCV001579060]|Focal segmental glomerulosclerosis [RCV002294229]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000395568]|not provided [RCV001513113]|not specified [RCV001701990] Chr1:196726612 [GRCh38]
Chr1:196695742 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) single nucleotide variant Factor H deficiency [RCV003333088]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000625583]|not provided [RCV003669163] Chr1:196652175 [GRCh38]
Chr1:196621305 [GRCh37]
Chr1:1q31.3		 likely pathogenic|uncertain significance
NM_000186.4(CFH):c.*98C>T single nucleotide variant Age related macular degeneration 4 [RCV000282854]|Basal laminar drusen [RCV000378400]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000340108]|Factor H deficiency [RCV003445841]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000374984]|not provided [RCV001651337] Chr1:196747411 [GRCh38]
Chr1:196716541 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.3(CFH):c.-124G>T single nucleotide variant Age related macular degeneration 4 [RCV000381951]|Basal laminar drusen [RCV000294889]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000272239]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000324972]|not provided [RCV004710747] Chr1:196651994 [GRCh38]
Chr1:196621124 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.-36G>C single nucleotide variant Age related macular degeneration 4 [RCV000310737]|Basal laminar drusen [RCV000302194]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000359329]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000397364] Chr1:196652082 [GRCh38]
Chr1:196621212 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.*178T>A single nucleotide variant Age related macular degeneration 4 [RCV000309717]|Basal laminar drusen [RCV000287331]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000344611]|Factor H deficiency [RCV003445842]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000408368]|not provided [RCV001594392] Chr1:196747491 [GRCh38]
Chr1:196716621 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.3(CFH):c.-79A>G single nucleotide variant Age related macular degeneration 4 [RCV000338556]|Basal laminar drusen [RCV000352078]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000385610]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000293684]|not provided [RCV004710748] Chr1:196652039 [GRCh38]
Chr1:196621169 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.103G>A (p.Gly35Ser) single nucleotide variant Age related macular degeneration 4 [RCV000332839]|Basal laminar drusen [RCV000363063]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000270751]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000371314] Chr1:196673022 [GRCh38]
Chr1:196642152 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3531T>G (p.Tyr1177Ter) single nucleotide variant not provided [RCV002292749] Chr1:196747148 [GRCh38]
Chr1:196716278 [GRCh37]
Chr1:1q31.3		 likely pathogenic
NM_000186.4(CFH):c.428-3C>T single nucleotide variant Atypical hemolytic-uremic syndrome [RCV000343575]|Basal laminar drusen [RCV000291509]|Macular degeneration [RCV000383535]|Mesangiocapillary glomerulonephritis, type II [RCV000321856] Chr1:196677473 [GRCh38]
Chr1:196646603 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.275C>T (p.Pro92Leu) single nucleotide variant Age related macular degeneration 4 [RCV000346805]|Basal laminar drusen [RCV000406315]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000402549]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000284800]|not provided [RCV003765716] Chr1:196673887 [GRCh38]
Chr1:196643017 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala) single nucleotide variant Age related macular degeneration 4 [RCV000285697]|Basal laminar drusen [RCV000321011]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000326920]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000380312] Chr1:196726919 [GRCh38]
Chr1:196696049 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.-61A>G single nucleotide variant Age related macular degeneration 4 [RCV000342048]|Basal laminar drusen [RCV000403160]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000298861]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000403715] Chr1:196652057 [GRCh38]
Chr1:196621187 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg) single nucleotide variant Age related macular degeneration 4 [RCV000359782]|Basal laminar drusen [RCV000299196]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV000405385]|Factor H deficiency [RCV003454844]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000353948]|Inborn genetic diseases [RCV003380541] Chr1:196736952 [GRCh38]
Chr1:196706082 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.16A>G (p.Lys6Glu) single nucleotide variant Age related macular degeneration 4 [RCV001102092]|Basal laminar drusen [RCV001100104]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001100103]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001102093]|not provided [RCV002554957] Chr1:196652133 [GRCh38]
Chr1:196621263 [GRCh37]
Chr1:1q31.3		 benign|uncertain significance
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) single nucleotide variant Age related macular degeneration 4 [RCV001098524]|Basal laminar drusen [RCV000767926]|Basal laminar drusen [RCV001096772]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001096771]|Factor H deficiency [RCV003453584]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001098523]|not provided [RCV000788892] Chr1:196677529 [GRCh38]
Chr1:196646659 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) single nucleotide variant Age related macular degeneration 4 [RCV003456140]|Basal laminar drusen [RCV000767927]|Basal laminar drusen [RCV003453587]|Factor H deficiency [RCV003453586]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003453585]|not provided [RCV002533926] Chr1:196736871 [GRCh38]
Chr1:196706001 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.388G>A (p.Asp130Asn) single nucleotide variant Age related macular degeneration 4 [RCV003456098]|Basal laminar drusen [RCV003451351]|Factor H deficiency [RCV003451350]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003451349]|not provided [RCV000595930] Chr1:196676026 [GRCh38]
Chr1:196645156 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3133+4C>G single nucleotide variant Age related macular degeneration 4 [RCV001097347]|Basal laminar drusen [RCV001101088]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001101089]|CFH-related disorder [RCV004535884]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001097348]|not provided [RCV000735108]|not specified [RCV004526766] Chr1:196742055 [GRCh38]
Chr1:196711185 [GRCh37]
Chr1:1q31.3		 likely benign|uncertain significance
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000735706] Chr1:196690221..196690230 [GRCh38]
Chr1:196659351..196659360 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000505614] Chr1:196679712..196679713 [GRCh38]
Chr1:196648842..196648843 [GRCh37]
Chr1:1q31.3		 pathogenic
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_000186.4(CFH):c.1141C>A (p.Pro381Thr) single nucleotide variant not provided [RCV000442176] Chr1:196689596 [GRCh38]
Chr1:196658726 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln) single nucleotide variant Age related macular degeneration 4 [RCV003449230]|Basal laminar drusen [RCV003449229]|Factor H deficiency [RCV003449228]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003449227]|not provided [RCV000484899] Chr1:196745952 [GRCh38]
Chr1:196715082 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000186.4(CFH):c.2397del (p.Glu800fs) deletion Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000493294] Chr1:196728506 [GRCh38]
Chr1:196697636 [GRCh37]
Chr1:1q31.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000186.4(CFH):c.3200A>G (p.Tyr1067Cys) single nucleotide variant Inborn genetic diseases [RCV003241908] Chr1:196743518 [GRCh38]
Chr1:196712648 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003239331] Chr1:196741893 [GRCh38]
Chr1:196711023 [GRCh37]
Chr1:1q31.3		 likely pathogenic
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1 copy number loss not provided [RCV000684683] Chr1:195089818..197443021 [GRCh37]
Chr1:1q31.3		 likely pathogenic
Single allele deletion Mesangiocapillary glomerulonephritis [RCV001004032] Chr1:196498350..196626665 [GRCh37]
Chr1:1q31.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q31.3(chr1:196620593-196927185)x3 copy number gain not provided [RCV000736808] Chr1:196620593..196927185 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-196933245)x3 copy number gain not provided [RCV000736809] Chr1:196620593..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-197009798)x3 copy number gain not provided [RCV000736810] Chr1:196620593..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196620593-197165014)x3 copy number gain not provided [RCV000736811] Chr1:196620593..197165014 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621169-196632705)x4 copy number gain not provided [RCV000736812] Chr1:196621169..196632705 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-196933245)x3 copy number gain not provided [RCV000736813] Chr1:196621221..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-196937536)x3 copy number gain not provided [RCV000736814] Chr1:196621221..196937536 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197141320)x3 copy number gain not provided [RCV000736815] Chr1:196713725..197141320 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197168178)x3 copy number gain not provided [RCV000736816] Chr1:196713725..197168178 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196716541-196799637)x3 copy number gain not provided [RCV000736817] Chr1:196716541..196799637 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q31.3(chr1:196621221-197009798)x3 copy number gain not provided [RCV000749299] Chr1:196621221..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196621221-197141320)x3 copy number gain not provided [RCV000749300] Chr1:196621221..197141320 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196622041-197012194)x3 copy number gain not provided [RCV000749301] Chr1:196622041..197012194 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196677945-196823613)x3 copy number gain not provided [RCV000749302] Chr1:196677945..196823613 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196704997-196823300)x3 copy number gain not provided [RCV000749303] Chr1:196704997..196823300 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196709774-196823613)x3 copy number gain not provided [RCV000749304] Chr1:196709774..196823613 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196711067-196933238)x3 copy number gain not provided [RCV000749305] Chr1:196711067..196933238 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196711067-197009798)x3 copy number gain not provided [RCV000749306] Chr1:196711067..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196927185)x3 copy number gain not provided [RCV000749307] Chr1:196712596..196927185 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196933245)x3 copy number gain not provided [RCV000749308] Chr1:196712596..196933245 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-196973872)x3 copy number gain not provided [RCV000749309] Chr1:196712596..196973872 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712596-197009798)x3 copy number gain not provided [RCV000749310] Chr1:196712596..197009798 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196712659-196973872)x3 copy number gain not provided [RCV000749311] Chr1:196712659..196973872 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-196929310)x3 copy number gain not provided [RCV000749312] Chr1:196713725..196929310 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-196933238)x3 copy number gain not provided [RCV000749313] Chr1:196713725..196933238 [GRCh37]
Chr1:1q31.3		 benign
GRCh37/hg19 1q31.3(chr1:196713725-197009798)x3 copy number gain not provided [RCV000749314] Chr1:196713725..197009798 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) single nucleotide variant Age related macular degeneration 4 [RCV003456242]|Basal laminar drusen [RCV002477892]|Basal laminar drusen [RCV003451852]|Factor H deficiency [RCV003451851]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003451850]|Kidney disorder [RCV002294476]|not provided [RCV001702977]|not specified [RCV001700879] Chr1:196743468 [GRCh38]
Chr1:196712598 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.348G>A (p.Glu116=) single nucleotide variant not provided [RCV001725246] Chr1:196673960 [GRCh38]
Chr1:196643090 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.2957-215T>G single nucleotide variant not provided [RCV001693061] Chr1:196741660 [GRCh38]
Chr1:196710790 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.3676C>T (p.Pro1226Ser) single nucleotide variant not provided [RCV003312148] Chr1:196747293 [GRCh38]
Chr1:196716423 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.2956+235C>T single nucleotide variant not provided [RCV001707278] Chr1:196741027 [GRCh38]
Chr1:196710157 [GRCh37]
Chr1:1q31.3		 benign
NM_000186.4(CFH):c.2794A>C (p.Lys932Gln) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001029906] Chr1:196740630 [GRCh38]
Chr1:196709760 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3318A>G (p.Thr1106=) single nucleotide variant Age related macular degeneration 4 [RCV003454991]|Basal laminar drusen [RCV002503137]|Basal laminar drusen [RCV003454990]|Factor H deficiency [RCV003454989]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003454988]|not provided [RCV000982959] Chr1:196745824 [GRCh38]
Chr1:196714954 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.59-10T>G single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000786884] Chr1:196672968 [GRCh38]
Chr1:196642098 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2595T>G (p.Val865=) single nucleotide variant not provided [RCV000788144] Chr1:196737005 [GRCh38]
Chr1:196706135 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.453A>G (p.Ala151=) single nucleotide variant not provided [RCV000930530] Chr1:196677501 [GRCh38]
Chr1:196646631 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.2070C>A (p.Thr690=) single nucleotide variant not provided [RCV000922691] Chr1:196726774 [GRCh38]
Chr1:196695904 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.2236+10C>G single nucleotide variant Age related macular degeneration 4 [RCV003446563]|Basal laminar drusen [RCV002489452]|Basal laminar drusen [RCV003446562]|Factor H deficiency [RCV003446561]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003446560]|not provided [RCV000982958] Chr1:196726950 [GRCh38]
Chr1:196696080 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.1707C>T (p.Cys569=) single nucleotide variant Age related macular degeneration 4 [RCV003454937]|Basal laminar drusen [RCV003454936]|Factor H deficiency [RCV003454935]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003454934]|not provided [RCV000896617] Chr1:196725131 [GRCh38]
Chr1:196694261 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.2070C>T (p.Thr690=) single nucleotide variant not provided [RCV000922904] Chr1:196726774 [GRCh38]
Chr1:196695904 [GRCh37]
Chr1:1q31.3		 likely benign
NM_000186.4(CFH):c.245-8C>T single nucleotide variant Age related macular degeneration 4 [RCV003446524]|Basal laminar drusen [RCV002501388]|Basal laminar drusen [RCV003446523]|Factor H deficiency [RCV003446522]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003446521]|not provided [RCV000881721]|not specified [RCV001700486] Chr1:196673849 [GRCh38]
Chr1:196642979 [GRCh37]
Chr1:1q31.3		 benign|likely benign
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000787023] Chr1:196747159 [GRCh38]
Chr1:196716289 [GRCh37]
Chr1:1q31.3		 likely pathogenic
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu) single nucleotide variant Age related macular degeneration 4 [RCV003456176]|Basal laminar drusen [RCV003455142]|Factor H deficiency [RCV003455141]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001029836]|Inborn genetic diseases [RCV004030907]|not provided [RCV002552022] Chr1:196740736 [GRCh38]
Chr1:196709866 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000786952] Chr1:196689581 [GRCh38]
Chr1:196658711 [GRCh37]
Chr1:1q31.3		 pathogenic
NM_000186.4(CFH):c.2825T>C (p.Val942Ala) single nucleotide variant not provided [RCV000788429] Chr1:196740661 [GRCh38]
Chr1:196709791 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp) single nucleotide variant Age related macular degeneration 4 [RCV003456146]|Basal laminar drusen [RCV003453633]|Factor H deficiency [RCV003453632]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003453631]|not provided [RCV000788876] Chr1:196747198 [GRCh38]
Chr1:196716328 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1		 uncertain significance
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) single nucleotide variant Age related macular degeneration 4 [RCV001100999]|Basal laminar drusen [RCV001097264]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001100998]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001097265] Chr1:196740780 [GRCh38]
Chr1:196709910 [GRCh37]
Chr1:1q31.3		 benign|uncertain significance
NM_000186.4(CFH):c.1336+4A>G single nucleotide variant Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV000786885] Chr1:196690243 [GRCh38]
Chr1:196659373 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.879G>A (p.Gln293=) single nucleotide variant Age related macular degeneration 4 [RCV001100289]|Basal laminar drusen [RCV001100288]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098525]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001098526] Chr1:196685152 [GRCh38]
Chr1:196654282 [GRCh37]
Chr1:1q31.3		 benign|uncertain significance
NM_000186.4(CFH):c.1418C>T (p.Ala473Val) single nucleotide variant Age related macular degeneration 4 [RCV001098621]|Basal laminar drusen [RCV001098620]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098618]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001098619]|not provided [RCV001856332] Chr1:196713816 [GRCh38]
Chr1:196682946 [GRCh37]
Chr1:1q31.3		 benign|uncertain significance
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) single nucleotide variant Age related macular degeneration 4 [RCV003456145]|Atypical hemolytic-uremic syndrome [RCV002294382]|Basal laminar drusen [RCV003453630]|Factor H deficiency [RCV003453629]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003453628]|not provided [RCV000788638] Chr1:196677572 [GRCh38]
Chr1:196646702 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) single nucleotide variant Age related macular degeneration 4 [RCV001098816]|Basal laminar drusen [RCV001098817]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001097072]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001097071] Chr1:196728423 [GRCh38]
Chr1:196697553 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.3134-5T>C single nucleotide variant Age related macular degeneration 4 [RCV001099101]|Atypical hemolytic-uremic syndrome [RCV002294440]|Basal laminar drusen [RCV001099100]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001099102]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001099103]|not provided [RCV001573411]|not specified [RCV001529004] Chr1:196743447 [GRCh38]
Chr1:196712577 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_000186.4(CFH):c.1612G>C (p.Asp538His) single nucleotide variant Age related macular degeneration 4 [RCV003456192]|Basal laminar drusen [RCV002489731]|Basal laminar drusen [RCV003455428]|Factor H deficiency [RCV003455427]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV003455426]|not provided [RCV001091024] Chr1:196715685 [GRCh38]
Chr1:196684815 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2669G>C (p.Ser890Thr) single nucleotide variant not provided [RCV001963868] Chr1:196737547 [GRCh38]
Chr1:196706677 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3(chr1:196397668-196946808)x3 copy number gain not provided [RCV001005166] Chr1:196397668..196946808 [GRCh37]
Chr1:1q31.3		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
NM_000186.4(CFH):c.2956+13G>A single nucleotide variant Age related macular degeneration 4 [RCV001097268]|Basal laminar drusen [RCV001097267]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001097266]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001097269]|not provided [RCV002069639] Chr1:196740805 [GRCh38]
Chr1:196709935 [GRCh37]
Chr1:1q31.3		 benign|likely benign|uncertain significance
NM_000186.4(CFH):c.*127G>T single nucleotide variant Age related macular degeneration 4 [RCV001095850]|Basal laminar drusen [RCV001095853]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001095851]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001095852] Chr1:196747440 [GRCh38]
Chr1:196716570 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.245-15T>C single nucleotide variant Age related macular degeneration 4 [RCV001098419]|Basal laminar drusen [RCV001098418]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098417]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001098416]|not provided [RCV002067750] Chr1:196673842 [GRCh38]
Chr1:196642972 [GRCh37]
Chr1:1q31.3		 benign|uncertain significance
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) single nucleotide variant Age related macular degeneration 4 [RCV001100527]|Basal laminar drusen [RCV001100526]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098711]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [RCV001098712] Chr1:196726580 [GRCh38]
Chr1:196695710 [GRCh37]
Chr1:1q31.3		 uncertain significance
NM_000186.4(CFH):c.2424A>G (p.Ile808Met) single nucleotide variant Age related macular degeneration 4 [RCV001098820]|Basal laminar drusen [RCV001098821]|CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II [RCV001098818]|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [