FN1 (fibronectin 1) - Rat Genome Database

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Gene: FN1 (fibronectin 1) Homo sapiens
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Symbol: FN1
Name: fibronectin 1
RGD ID: 736627
HGNC Page HGNC:3778
Description: Enables several functions, including identical protein binding activity; integrin binding activity; and protease binding activity. Involved in several processes, including integrin activation; regulation of gene expression; and regulation of intracellular signal transduction. Located in collagen-containing extracellular matrix; endoplasmic reticulum-Golgi intermediate compartment; and extracellular exosome. Part of fibrinogen complex. Is active in extracellular matrix. Implicated in calcium oxalate nephrolithiasis; membranoproliferative glomerulonephritis; and spondylometaphyseal dysplasia corner fracture type. Biomarker of several diseases, including Sturge-Weber syndrome; end stage renal disease; glomerulonephritis (multiple); osteoarthritis; and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CIG; cold-insoluble globulin; DKFZp686F10164; DKFZp686H0342; DKFZp686I1370; DKFZp686O13149; ED-B; fibronectin; FINC; FN; FNZ; GFND; GFND2; LETS; lnc-ABCA12-8; migration-stimulating factor; MSF; SMDCF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382215,360,865 - 215,436,068 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2215,360,440 - 215,436,073 (-)EnsemblGRCh38hg38GRCh38
GRCh372216,225,588 - 216,300,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362215,933,422 - 216,009,036 (-)NCBINCBI36Build 36hg18NCBI36
Build 342216,050,686 - 216,126,297NCBI
Celera2209,994,808 - 210,070,377 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2208,082,209 - 208,158,070 (-)NCBIHuRef
CHM1_12216,231,077 - 216,306,650 (-)NCBICHM1_1
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
Acute Otitis Media  (ISO)
Animal Mammary Neoplasms  (EXP)
aortic valve insufficiency  (EXP)
brain disease  (IAGP)
Breast Neoplasms  (EXP)
calcium oxalate nephrolithiasis  (IAGP,ISO)
carcinoma  (EXP)
Cardiac Fibrosis  (ISO)
Chronic Intermittent Hypoxia  (ISO)
chronic kidney disease  (IAGP)
COVID-19  (HEP)
Crohn's disease  (EXP)
diabetes mellitus  (EXP,IEP)
diabetic angiopathy  (ISO)
Diabetic Nephropathies  (EXP,IEP,ISO)
end stage renal disease  (IEP)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (ISO)
Experimental Mammary Neoplasms  (EXP)
focal segmental glomerulosclerosis  (EXP)
genetic disease  (IAGP)
glioblastoma  (EXP)
glomerulonephritis  (IEP)
Glomerulopathy with Giant Fibrillar Deposits  (EXP,IAGP)
hypertension  (EXP,ISO)
IgA glomerulonephritis  (IEP)
iron deficiency anemia  (ISO)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (EXP)
Liver Injury  (ISO)
Liver Reperfusion Injury  (ISO)
malignant mesothelioma  (EXP)
megacolon  (IAGP)
membranoproliferative glomerulonephritis  (ISO)
myocardial infarction  (ISO)
Neoplasm Invasiveness  (EXP)
Neoplasm Metastasis  (IEP)
Neoplastic Cell Transformation  (EXP)
nephrotic syndrome  (IAGP)
Neurodevelopmental Disorders  (IAGP)
osteoarthritis  (IEP)
pulmonary fibrosis  (EXP)
renal cell carcinoma  (IEP)
renal fibrosis  (ISO)
renovascular hypertension  (ISO)
severe acute respiratory syndrome  (ISO)
Spinal Cord Injuries  (IDA)
spondyloepimetaphyseal dysplasia, Strudwick type  (IAGP)
spondylometaphyseal dysplasia  (IAGP)
spondylometaphyseal dysplasia corner fracture type  (IAGP)
Spontaneous Abortions  (EXP)
Staphylococcal Pneumonia  (ISO)
Sturge-Weber syndrome  (IEP)
submandibular gland disease  (ISO)
ureteral obstruction  (EXP,ISO)
urinary bladder cancer  (IEP)
VACTERL association  (ISO)
X-linked Alport syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-amygdalin  (EXP,ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (EXP)
(R,R,R)-alpha-tocopherol  (EXP)
(S)-colchicine  (ISO)
(S)-nicotine  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-naphthylamine  (EXP)
2-nitrofluorene  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-aminobenzamide  (EXP,ISO)
3-methyladenine  (ISO)
3-phenylprop-2-enal  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (ISO)
5'-phosphopyridoxal-6-azobenzene-2,4-disulfonic acid  (ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-chloro-7-iodoquinolin-8-ol  (EXP)
5-fluorouracil  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
9-cis-retinoic acid  (EXP,ISO)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetone  (EXP)
acetylsalicylic acid  (ISO)
aconitic acid  (EXP,ISO)
aconitine  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
adenine  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
albuterol  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
allopurinol  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-pinene  (EXP)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
amphetamine  (ISO)
andrographolide  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
apigenin  (EXP)
apocynin  (EXP,ISO)
arecoline  (ISO)
aripiprazole  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
asbestos  (EXP)
Atractylodin  (EXP,ISO)
atrazine  (EXP)
bacitracin  (ISO)
baicalein  (EXP)
beclomethasone  (EXP)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
berberine  (ISO)
beta-D-glucosamine  (ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP,ISO)
boric acid  (EXP,ISO)
bosentan  (EXP)
bromobenzene  (ISO)
bromochloroacetic acid  (ISO)
brucine  (EXP,ISO)
bucladesine  (EXP)
butanal  (EXP)
butane  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium selenide  (EXP)
Calphostin C  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
carvedilol  (ISO)
celastrol  (EXP,ISO)
CGP 52608  (EXP)
chelerythrine  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
chrysin  (EXP)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
Clofop  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cordycepin  (ISO)
crocidolite asbestos  (EXP)
curcumin  (EXP,ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP,ISO)
D-penicillamine  (ISO)
DDT  (EXP)
deoxynivalenol  (EXP)
desferrioxamine B  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibenziodolium  (EXP,ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP,ISO)
dimethylarsinous acid  (EXP)
Diosbulbin B  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (EXP,ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ellagic acid  (ISO)
emodin  (ISO)
enalaprilat dihydrate  (ISO)
endosulfan  (EXP,ISO)
entinostat  (EXP)
eplerenone  (ISO)
eprosartan  (ISO)
esculetin  (ISO)
etacrynic acid  (EXP)
ethanol  (EXP,ISO)
farrerol  (ISO)
fasudil  (ISO)
fenamidone  (ISO)
fenofibrate  (ISO)
fenoldopam  (ISO)
flavonol  (EXP)
fluorescein 5-isothiocyanate  (EXP)
flutamide  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
formaldehyde  (EXP)
formoterol fumarate  (EXP)
furan  (ISO)
gallic acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gefitinib  (ISO)
geldanamycin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
gestodene  (EXP)
gingerol  (EXP)
glafenine  (ISO)
glucose  (EXP,ISO)
glutathione  (ISO)
Glutathione ethyl ester  (ISO)
glyburide  (ISO)
glyphosate  (EXP)
graphene oxide  (EXP)
heptachlor  (EXP,ISO)
hexachlorobenzene  (ISO)
Honokiol  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
indometacin  (EXP)
inulin  (ISO)
irinotecan  (EXP)
isoflavones  (EXP,ISO)
isopentane  (EXP)
isoprenaline  (EXP,ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
JTE-013  (ISO)
kaempferol  (EXP)
ketamine  (EXP,ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
Lasiocarpine  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
linalool  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
loliolide  (EXP)
losartan  (ISO)
LY-2157299  (ISO)
LY294002  (EXP,ISO)
manganese(II) chloride  (ISO)
mangiferin  (ISO)
manumycin A  (ISO)
masoprocol  (EXP)
medroxyprogesterone acetate  (EXP)
melamine  (EXP)
melatonin  (ISO)
melittin  (ISO)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylglyoxal  (ISO)
methylmercury chloride  (EXP,ISO)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
MK-2206  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monocrotaline  (EXP,ISO)
morphine  (ISO)
myricetin  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N,N-dimethylsphingosine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel subsulfide  (ISO)
nickel sulfate  (EXP)
niclosamide  (EXP,ISO)
nicotine  (EXP,ISO)
nimesulide  (ISO)
nitrogen dioxide  (EXP)
notoginsenoside R1  (EXP)
obeticholic acid  (ISO)
ochratoxin A  (EXP,ISO)
olanzapine  (EXP)
organoselenium compound  (ISO)
ouabain  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
Pachymic acid  (ISO)
paclitaxel  (EXP)
Paeonol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
PCB138  (ISO)
pentane  (EXP)
pentane-2,3-dione  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perindopril  (ISO)
phenobarbital  (EXP,ISO)
phenylephrine  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirfenidone  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
potassium iodide  (ISO)
prazosin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propene  (EXP)
propiconazole  (ISO)
Propiverine  (ISO)
propofol  (EXP)
propranolol  (EXP)
pyridoxal 5'-phosphate  (ISO)
pyrrolidine dithiocarbamate  (EXP)
pyrvinium  (ISO)
quartz  (EXP,ISO)
quercetin  (EXP,ISO)
radon atom  (EXP)
radon(0)  (EXP)
raloxifene  (ISO)
ramipril  (ISO)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
ridaforolimus  (EXP)
rosiglitazone  (ISO)
rosmarinic acid  (ISO)
rotenone  (EXP,ISO)
rutin  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
Salidroside  (ISO)
salubrinal  (ISO)
SB 203580  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP,ISO)
sevoflurane  (EXP)
sildenafil citrate  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (ISO)
Sinomenine  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium hydrogencarbonate  (ISO)
sodium hydroxide  (ISO)
sorafenib  (EXP)
sorbinil  (EXP)
sphingosine 1-phosphate  (ISO)
SR 144528  (ISO)
staurosporine  (ISO)
streptozocin  (ISO)
styrene  (EXP)
succimer  (EXP)
sunitinib  (EXP)
superoxide  (ISO)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (EXP,ISO)
Tanshinone I  (EXP,ISO)
tauroursodeoxycholic acid  (ISO)
telmisartan  (ISO)
teprenone  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
tetraethylenepentamine  (EXP,ISO)
tetramethylpyrazine  (EXP,ISO)
thapsigargin  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
Tiron  (EXP)
titanium dioxide  (EXP,ISO)
toluene  (ISO)
topotecan  (ISO)
trandolapril  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
Triton X-100  (EXP)
troglitazone  (EXP,ISO)
troleandomycin  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
venom  (EXP)
verapamil  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vitamin D  (ISO)
Y-27632  (EXP,ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acute-phase response  (IEA)
angiogenesis  (IEA)
calcium-independent cell-matrix adhesion  (IEA,ISO)
cell adhesion  (IEA,ISO,NAS)
cell-matrix adhesion  (IBA,IEA,ISO)
cell-substrate junction assembly  (IBA,IEA,ISO)
cellular response to amyloid-beta  (ISO)
cellular response to angiotensin  (ISO)
cellular response to BMP stimulus  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to interleukin-1  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to mercury ion  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
cellular response to prostaglandin E stimulus  (ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
cellular response to vascular endothelial growth factor stimulus  (ISO)
endodermal cell differentiation  (IDA)
extracellular matrix organization  (ISO)
glial cell migration  (ISO)
heart development  (IBA,IEA)
integrin activation  (IMP)
integrin-mediated signaling pathway  (IDA)
negative regulation of apoptotic process  (ISO)
negative regulation of collagen biosynthetic process  (ISO)
negative regulation of monocyte activation  (IDA,IEA)
negative regulation of transforming growth factor beta production  (IDA)
nervous system development  (IBA,IEA)
neural crest cell migration involved in autonomic nervous system development  (IDA)
positive regulation of axon extension  (IEA,ISO)
positive regulation of cell migration  (ISO)
positive regulation of cell population proliferation  (IDA)
positive regulation of chemotaxis  (ISO)
positive regulation of fibroblast proliferation  (IDA)
positive regulation of gene expression  (IDA)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of substrate-dependent cell migration, cell attachment to substrate  (IDA)
regulation of cell shape  (IEA)
regulation of ERK1 and ERK2 cascade  (IDA)
regulation of protein phosphorylation  (IDA)
response to activity  (ISO)
response to glucocorticoid  (ISO)
response to iron ion  (ISO)
response to ischemia  (ISO)
response to muscle activity  (ISO)
response to ozone  (ISO)
response to wounding  (NAS)
response to xenobiotic stimulus  (ISO)
substrate adhesion-dependent cell spreading  (IDA,IMP)
wound healing  (IEA,ISO)

Molecular Function

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

Human Phenotype
Abnormal antitragus morphology  (IAGP)
Abnormal bone ossification  (IAGP)
Abnormal circulating osteocalcin level  (IAGP)
Abnormal glomerular mesangium morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Aganglionic megacolon  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Biconcave vertebral bodies  (IAGP)
Biconvex vertebral bodies  (IAGP)
C1-C2 vertebral abnormality  (IAGP)
Cerebral hemorrhage  (IAGP)
Chronic kidney disease  (IAGP)
Clinodactyly  (IAGP)
Corner fracture of metaphysis  (IAGP)
Coxa vara  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Encephalopathy  (IAGP)
Facial asymmetry  (IAGP)
Flat face  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Glomerular deposits  (IAGP)
Glomerular fibronectin deposits  (IAGP)
Glomerulomegaly  (IAGP)
Glomerulopathy  (IAGP)
High palate  (IAGP)
Hyperconvex vertebral body endplates  (IAGP)
Hypertension  (IAGP)
Hypoalbuminemia  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplastic iliac wing  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased urinary type 1 collagen N-terminal telopeptide level  (IAGP)
Intervertebral space narrowing  (IAGP)
Iron deficiency anemia  (IAGP)
Juvenile onset  (IAGP)
Limb pain  (IAGP)
Limitation of joint mobility  (IAGP)
Lower limb asymmetry  (IAGP)
Lumbar hyperlordosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Microscopic hematuria  (IAGP)
Myopia  (IAGP)
Nephrotic syndrome  (IAGP)
Ocular hypertension  (IAGP)
Ovoid vertebral bodies  (IAGP)
Pectus carinatum  (IAGP)
Pedal edema  (IAGP)
Platyspondyly  (IAGP)
Pointed chin  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Proptosis  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Reduced bone mineral density  (IAGP)
Renal insufficiency  (IAGP)
Scoliosis  (IAGP)
Short distal phalanx of finger  (IAGP)
Short femoral neck  (IAGP)
Short long bone  (IAGP)
Short lower limbs  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Slowly progressive  (IAGP)
Small earlobe  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Tibial bowing  (IAGP)
Underfolded helix  (IAGP)
Upper limb undergrowth  (IAGP)
Vertebral fusion  (IAGP)
Vertebral hypoplasia  (IAGP)
Vertebral wedging  (IAGP)
Visual impairment  (IAGP)
Waddling gait  (IAGP)
Young adult onset  (IAGP)
References

References - curated
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29. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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33. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
34. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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
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Additional References at PubMed
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PMID:27023403   PMID:27056061   PMID:27068509   PMID:27074102   PMID:27141819   PMID:27173027   PMID:27207836   PMID:27250024   PMID:27259755   PMID:27280542   PMID:27394141   PMID:27396946  
PMID:27465556   PMID:27469327   PMID:27496349   PMID:27498393   PMID:27503584   PMID:27521419   PMID:27559042   PMID:27574702   PMID:27602495   PMID:27616280   PMID:27685605   PMID:27693493  
PMID:27693530   PMID:27695111   PMID:27715399   PMID:27748871   PMID:27799304   PMID:27809694   PMID:27865093   PMID:27870323   PMID:27902486   PMID:27909052   PMID:27920201   PMID:28005267  
PMID:28076935   PMID:28109697   PMID:28113080   PMID:28130256   PMID:28325836   PMID:28327460   PMID:28344315   PMID:28396443   PMID:28397039   PMID:28407745   PMID:28440399   PMID:28472652  
PMID:28476806   PMID:28514442   PMID:28535003   PMID:28535404   PMID:28671047   PMID:28675934   PMID:28716814   PMID:28745050   PMID:28765903   PMID:28842594   PMID:28844984   PMID:28845674  
PMID:28954822   PMID:28972876   PMID:28974422   PMID:28986537   PMID:29021221   PMID:29030641   PMID:29100092   PMID:29158223   PMID:29247221   PMID:29274284   PMID:29298375   PMID:29361522  
PMID:29391407   PMID:29467282   PMID:29470988   PMID:29507755   PMID:29526433   PMID:29572389   PMID:29615492   PMID:29669734   PMID:29676528   PMID:29729706   PMID:29872149   PMID:29934326  
PMID:29961565   PMID:30051459   PMID:30061663   PMID:30082873   PMID:30204936   PMID:30237127   PMID:30314454   PMID:30323326   PMID:30370584   PMID:30396333   PMID:30451798   PMID:30451988  
PMID:30471916   PMID:30573633   PMID:30578652   PMID:30581152   PMID:30591455   PMID:30736807   PMID:30763270   PMID:30791695   PMID:31024071   PMID:31071095   PMID:31115525   PMID:31127138  
PMID:31145503   PMID:31180492   PMID:31181623   PMID:31273033   PMID:31273315   PMID:31324722   PMID:31326465   PMID:31353912   PMID:31419955   PMID:31488338   PMID:31491450   PMID:31589839  
PMID:31601651   PMID:31675484   PMID:31743426   PMID:31759052   PMID:31760535   PMID:31774870   PMID:31889960   PMID:31922212   PMID:31936272   PMID:31952223   PMID:32058186   PMID:32091157  
PMID:32113990   PMID:32129710   PMID:32200603   PMID:32207273   PMID:32208405   PMID:32210018   PMID:32223958   PMID:32281480   PMID:32285152   PMID:32296050   PMID:32317186   PMID:32322062  
PMID:32329843   PMID:32345553   PMID:32386436   PMID:32422492   PMID:32437085   PMID:32513244   PMID:32517571   PMID:32561820   PMID:32630254   PMID:32635925   PMID:32653948   PMID:32736676  
PMID:32756405   PMID:32814769   PMID:32872047   PMID:32950474   PMID:32994394   PMID:33000176   PMID:33022573   PMID:33029756   PMID:33040835   PMID:33042274   PMID:33105833   PMID:33212158  
PMID:33248456   PMID:33275213   PMID:33277619   PMID:33579227   PMID:33625865   PMID:33771684   PMID:33780362   PMID:33864425   PMID:33881516   PMID:33917452   PMID:33961781   PMID:33962943  
PMID:34024029   PMID:34078812   PMID:34089617   PMID:34093898   PMID:34225581   PMID:34322931   PMID:34424825   PMID:34431237   PMID:34650023   PMID:34650049   PMID:34651664   PMID:34968453  
PMID:35013218   PMID:35141985   PMID:35181149   PMID:35230604   PMID:35263398   PMID:35445627   PMID:35523949   PMID:35562734   PMID:35563212   PMID:35690624   PMID:35739058   PMID:35831314  
PMID:35844135   PMID:35914814   PMID:35944360   PMID:35982245   PMID:36158889   PMID:36244648   PMID:36260267   PMID:36274380   PMID:36278453   PMID:36461607   PMID:36471209   PMID:36539052  
PMID:36609600   PMID:36656379   PMID:36683415   PMID:36774238   PMID:36774506   PMID:36806318   PMID:36842152   PMID:36867952   PMID:36899821   PMID:36906126   PMID:36943602   PMID:37026938  
PMID:37158852   PMID:37161136   PMID:37228128   PMID:37343664   PMID:37358013   PMID:37458908   PMID:37525423   PMID:37689310   PMID:37718485   PMID:37771777   PMID:37899324   PMID:37957805  
PMID:37960829   PMID:38160601   PMID:38216996   PMID:38328983   PMID:38349126  


Genomics

Comparative Map Data
FN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382215,360,865 - 215,436,068 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2215,360,440 - 215,436,073 (-)EnsemblGRCh38hg38GRCh38
GRCh372216,225,588 - 216,300,791 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362215,933,422 - 216,009,036 (-)NCBINCBI36Build 36hg18NCBI36
Build 342216,050,686 - 216,126,297NCBI
Celera2209,994,808 - 210,070,377 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2208,082,209 - 208,158,070 (-)NCBIHuRef
CHM1_12216,231,077 - 216,306,650 (-)NCBICHM1_1
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBIT2T-CHM13v2.0
Fn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39171,624,632 - 71,692,439 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl171,624,679 - 71,692,359 (-)EnsemblGRCm39 Ensembl
GRCm38171,585,473 - 71,653,280 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl171,585,520 - 71,653,200 (-)EnsemblGRCm38mm10GRCm38
MGSCv37171,632,097 - 71,699,745 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36171,518,731 - 71,586,379 (-)NCBIMGSCv36mm8
Celera172,141,007 - 72,208,976 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map136.05NCBI
Fn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8980,645,507 - 80,714,200 (-)NCBIGRCr8
mRatBN7.2973,196,044 - 73,264,695 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl973,196,044 - 73,264,678 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx981,661,421 - 81,730,088 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0986,790,269 - 86,858,938 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0985,180,537 - 85,249,204 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0978,900,111 - 78,969,018 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl978,900,103 - 78,969,078 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0978,674,437 - 78,743,423 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4970,702,181 - 70,771,155 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1970,849,162 - 70,918,137 (-)NCBI
Celera970,607,233 - 70,675,716 (-)NCBICelera
RH 3.4 Map9673.9RGD
Cytogenetic Map9q33NCBI
Fn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955457629,518 - 696,975 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955457629,599 - 694,948 (+)NCBIChiLan1.0ChiLan1.0
FN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213117,990,599 - 118,066,026 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B118,005,563 - 118,080,823 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B102,623,568 - 102,698,747 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B221,208,431 - 221,284,003 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B221,208,431 - 221,284,003 (-)Ensemblpanpan1.1panPan2
FN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13722,456,854 - 22,522,410 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3722,420,428 - 22,523,123 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3723,283,410 - 23,349,813 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03722,479,930 - 22,546,207 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3722,479,939 - 22,546,755 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13722,368,332 - 22,434,691 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03722,319,732 - 22,386,105 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03722,336,313 - 22,402,763 (-)NCBIUU_Cfam_GSD_1.0
Fn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303170,852,488 - 170,917,088 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365861,708,684 - 1,773,383 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365861,708,803 - 1,773,372 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15117,658,099 - 117,731,014 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115117,658,158 - 117,737,145 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215130,357,895 - 130,430,785 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110101,177,867 - 101,254,613 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10101,176,789 - 101,254,633 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604098,128,602 - 98,204,117 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624765707,755 - 775,056 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624765707,872 - 775,056 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FN1
1242 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_212482.4(FN1):c.5773T>A (p.Trp1925Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000017720] Chr2:215376612 [GRCh38]
Chr2:216241335 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.5921T>G (p.Leu1974Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000017721] Chr2:215375685 [GRCh38]
Chr2:216240408 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.2918A>G (p.Tyr973Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000017722]|Glomerulopathy with fibronectin deposits 2 [RCV002482881] Chr2:215406306 [GRCh38]
Chr2:216271029 [GRCh37]
Chr2:2q35		 pathogenic|uncertain significance
GRCh38/hg38 2q34-35(chr2:213912976-215939299)x3 copy number gain See cases [RCV000051118] Chr2:213912976..215939299 [GRCh38]
Chr2:214777700..216804022 [GRCh37]
Chr2:214485945..216512267 [NCBI36]
Chr2:2q34-35		 uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q35(chr2:215079289-216799770)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|See cases [RCV000052731] Chr2:215079289..216799770 [GRCh38]
Chr2:215944012..217664493 [GRCh37]
Chr2:215652257..217372738 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
NM_212482.4(FN1):c.3051G>T (p.Trp1017Cys) single nucleotide variant Inborn genetic diseases [RCV000190733] Chr2:215404591 [GRCh38]
Chr2:216269314 [GRCh37]
Chr2:2q35		 pathogenic
GRCh38/hg38 2q35(chr2:214785851-215383000)x3 copy number gain See cases [RCV000134715] Chr2:214785851..215383000 [GRCh38]
Chr2:215650575..216247723 [GRCh37]
Chr2:215358820..215955968 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_212482.4(FN1):c.5775G>C (p.Trp1925Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000207361] Chr2:215376610 [GRCh38]
Chr2:216241333 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.5921T>C (p.Leu1974Pro) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000207403] Chr2:215375685 [GRCh38]
Chr2:216240408 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.4412CTC[1] (p.Pro1472del) microsatellite Glomerulopathy with fibronectin deposits 2 [RCV000207432] Chr2:215386884..215386886 [GRCh38]
Chr2:216251607..216251609 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.5792C>T (p.Thr1931Met) single nucleotide variant not provided [RCV001982630] Chr2:215376593 [GRCh38]
Chr2:216241316 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.773G>A (p.Cys258Tyr) single nucleotide variant Spondylometaphyseal dysplasia [RCV000754913]|not provided [RCV000519100] Chr2:215428251 [GRCh38]
Chr2:216292974 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_212482.4(FN1):c.44_46delinsTGG (p.Gln15_Cys16delinsLeuGly) indel not provided [RCV000722841] Chr2:215435757..215435759 [GRCh38]
Chr2:216300480..216300482 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5209G>A (p.Asp1737Asn) single nucleotide variant not provided [RCV003312518] Chr2:215381036 [GRCh38]
Chr2:216245759 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.976C>T (p.Gln326Ter) single nucleotide variant not provided [RCV000414499] Chr2:215425154 [GRCh38]
Chr2:216289877 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.693C>G (p.Cys231Trp) single nucleotide variant Spondylometaphyseal dysplasia [RCV000754912]|not provided [RCV000480973] Chr2:215428331 [GRCh38]
Chr2:216293054 [GRCh37]
Chr2:2q35		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000575065]|Spondylometaphyseal dysplasia [RCV000509582]|not provided [RCV002526994] Chr2:215433372 [GRCh38]
Chr2:216298095 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_212482.4(FN1):c.778T>G (p.Cys260Gly) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000755747]|Spondylometaphyseal dysplasia [RCV000509583] Chr2:215428246 [GRCh38]
Chr2:216292969 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del) microsatellite Spondylometaphyseal dysplasia - Sutcliffe type [RCV000755709]|Spondylometaphyseal dysplasia [RCV000509584] Chr2:215408299..215408301 [GRCh38]
Chr2:216273022..216273024 [GRCh37]
Chr2:2q35		 likely pathogenic|uncertain significance
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000755737]|Spondylometaphyseal dysplasia [RCV000509585]|not provided [RCV003558392] Chr2:215430725 [GRCh38]
Chr2:216295448 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000566441]|Spondylometaphyseal dysplasia [RCV000509586] Chr2:215434713 [GRCh38]
Chr2:216299436 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000570760]|Spondylometaphyseal dysplasia [RCV000509587] Chr2:215428306 [GRCh38]
Chr2:216293029 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q34-35(chr2:215224612-216544927)x4 copy number gain See cases [RCV000510896] Chr2:215224612..216544927 [GRCh37]
Chr2:2q34-35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_212482.4(FN1):c.1543C>G (p.Arg515Gly) single nucleotide variant Inborn genetic diseases [RCV003239653] Chr2:215422094 [GRCh38]
Chr2:216286817 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35		 pathogenic
NM_212482.4(FN1):c.5651A>G (p.Tyr1884Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV000709879]|not provided [RCV001521959] Chr2:215378234 [GRCh38]
Chr2:216242957 [GRCh37]
Chr2:2q35		 benign|not provided
NM_212482.4(FN1):c.1393+138TG[20] microsatellite not provided [RCV001548417] Chr2:215423180..215423181 [GRCh38]
Chr2:216287903..216287904 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_212482.4(FN1):c.6854-314G>A single nucleotide variant not provided [RCV001583035] Chr2:215368341 [GRCh38]
Chr2:216233064 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6714+234_6714+235del deletion not provided [RCV001540215] Chr2:215371674..215371675 [GRCh38]
Chr2:216236397..216236398 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2713+206G>A single nucleotide variant not provided [RCV001679713] Chr2:215406921 [GRCh38]
Chr2:216271644 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.939T>C (p.Gly313=) single nucleotide variant not provided [RCV000895701] Chr2:215425191 [GRCh38]
Chr2:216289914 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3348+23C>G single nucleotide variant not provided [RCV001693342] Chr2:215399234 [GRCh38]
Chr2:216263957 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1820-116A>G single nucleotide variant not provided [RCV001541386] Chr2:215415074 [GRCh38]
Chr2:216279797 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+62C>G single nucleotide variant not provided [RCV001583144] Chr2:215361907 [GRCh38]
Chr2:216226630 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7251+201C>T single nucleotide variant not provided [RCV001609787] Chr2:215364678 [GRCh38]
Chr2:216229401 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.277+138T>G single nucleotide variant not provided [RCV001645726] Chr2:215434558 [GRCh38]
Chr2:216299281 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3090C>T (p.Thr1030=) single nucleotide variant not provided [RCV000918829] Chr2:215404552 [GRCh38]
Chr2:216269275 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5434+142G>A single nucleotide variant not provided [RCV001648101] Chr2:215380669 [GRCh38]
Chr2:216245392 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1394-131T>C single nucleotide variant not provided [RCV001693413] Chr2:215422374 [GRCh38]
Chr2:216287097 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-242AT[11] microsatellite not provided [RCV001643530] Chr2:215393427..215393428 [GRCh38]
Chr2:216258150..216258151 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3253+17G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703034]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702220]|not provided [RCV001654979] Chr2:215404372 [GRCh38]
Chr2:216269095 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5622+21A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703150]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703037]|not provided [RCV001652913] Chr2:215379109 [GRCh38]
Chr2:216243832 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1942-38GT[13] microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002496002]|not provided [RCV001680057] Chr2:215410130..215410131 [GRCh38]
Chr2:216274853..216274854 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.861C>T (p.Thr287=) single nucleotide variant not provided [RCV000914244] Chr2:215425269 [GRCh38]
Chr2:216289992 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-180_7019-179insT insertion not provided [RCV001564384] Chr2:215365809..215365810 [GRCh38]
Chr2:216230532..216230533 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3349-217T>C single nucleotide variant not provided [RCV001725335] Chr2:215398065 [GRCh38]
Chr2:216262788 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3348+54G>T single nucleotide variant not provided [RCV001611863] Chr2:215399203 [GRCh38]
Chr2:216263926 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2713+38T>A single nucleotide variant not provided [RCV001725396] Chr2:215407089 [GRCh38]
Chr2:216271812 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4343-29del deletion not provided [RCV001575251] Chr2:215386987 [GRCh38]
Chr2:216251710 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.547+299C>G single nucleotide variant not provided [RCV001666745] Chr2:215431534 [GRCh38]
Chr2:216296257 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.368G>A (p.Cys123Tyr) single nucleotide variant Spondylometaphyseal dysplasia [RCV000754910] Chr2:215433371 [GRCh38]
Chr2:216298094 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.506G>A (p.Cys169Tyr) single nucleotide variant Spondylometaphyseal dysplasia [RCV000754911] Chr2:215431874 [GRCh38]
Chr2:216296597 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.3972A>C (p.Thr1324=) single nucleotide variant not provided [RCV000762319] Chr2:215393028 [GRCh38]
Chr2:216257751 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7363-30A>G single nucleotide variant not provided [RCV001569171] Chr2:215361656 [GRCh38]
Chr2:216226379 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2986+27C>T single nucleotide variant not provided [RCV001666992] Chr2:215406211 [GRCh38]
Chr2:216270934 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.415+251C>G single nucleotide variant not provided [RCV001693525] Chr2:215433073 [GRCh38]
Chr2:216297796 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2300-53C>T single nucleotide variant not provided [RCV001584810] Chr2:215408479 [GRCh38]
Chr2:216273202 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-311G>A single nucleotide variant not provided [RCV001680303] Chr2:215385287 [GRCh38]
Chr2:216250010 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.638G>A (p.Cys213Tyr) single nucleotide variant Spondylometaphyseal dysplasia [RCV000754909]|not provided [RCV001796767] Chr2:215430762 [GRCh38]
Chr2:216295485 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic|uncertain significance
NC_000002.12:g.215436185CGCC[3] microsatellite not provided [RCV001612040] Chr2:215436183..215436186 [GRCh38]
Chr2:216300906..216300909 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4253-15C>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702246]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703164]|not provided [RCV001698624] Chr2:215388316 [GRCh38]
Chr2:216253039 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6247+116T>A single nucleotide variant not provided [RCV001678900] Chr2:215373206 [GRCh38]
Chr2:216237929 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6157+178T>C single nucleotide variant not provided [RCV001709304] Chr2:215375036 [GRCh38]
Chr2:216239759 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6715-87A>C single nucleotide variant not provided [RCV001648831] Chr2:215370519 [GRCh38]
Chr2:216235242 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4894+180G>A single nucleotide variant not provided [RCV001678940] Chr2:215383840 [GRCh38]
Chr2:216248563 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1217-231G>T single nucleotide variant not provided [RCV001568820] Chr2:215423757 [GRCh38]
Chr2:216288480 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1101T>C (p.Asn367=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505478]|not provided [RCV000972692] Chr2:215424261 [GRCh38]
Chr2:216288984 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.40G>C (p.Val14Leu) single nucleotide variant not provided [RCV000972693] Chr2:215435763 [GRCh38]
Chr2:216300486 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1143C>T (p.Asp381=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002502798]|not provided [RCV000921575] Chr2:215424219 [GRCh38]
Chr2:216288942 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3189C>T (p.Thr1063=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002489404]|not provided [RCV000969166] Chr2:215404453 [GRCh38]
Chr2:216269176 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.751A>T (p.Asn251Tyr) single nucleotide variant FN1-related condition [RCV003932879]|not provided [RCV000904223] Chr2:215428273 [GRCh38]
Chr2:216292996 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1671C>T (p.Pro557=) single nucleotide variant not provided [RCV000982692] Chr2:215420677 [GRCh38]
Chr2:216285400 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.121T>G (p.Ser41Ala) single nucleotide variant not provided [RCV000903401] Chr2:215435682 [GRCh38]
Chr2:216300405 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1638C>T (p.Phe546=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002488015]|not provided [RCV000936358] Chr2:215420710 [GRCh38]
Chr2:216285433 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.202A>T (p.Thr68Ser) single nucleotide variant FN1-related condition [RCV003948348]|not provided [RCV000884393] Chr2:215434771 [GRCh38]
Chr2:216299494 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2829C>T (p.Pro943=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002502678]|not provided [RCV000903721] Chr2:215406395 [GRCh38]
Chr2:216271118 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3254-5C>T single nucleotide variant not provided [RCV000906325] Chr2:215399356 [GRCh38]
Chr2:216264079 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5532A>C (p.Arg1844=) single nucleotide variant FN1-related condition [RCV003912839]|Glomerulopathy with fibronectin deposits 2 [RCV002495442]|not provided [RCV000899346] Chr2:215379220 [GRCh38]
Chr2:216243943 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3604+9G>A single nucleotide variant not provided [RCV000879811] Chr2:215397128 [GRCh38]
Chr2:216261851 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1110G>A (p.Thr370=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002489296]|not provided [RCV000948624] Chr2:215424252 [GRCh38]
Chr2:216288975 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7274G>A (p.Arg2425His) single nucleotide variant not provided [RCV000937490] Chr2:215362057 [GRCh38]
Chr2:216226780 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1023C>T (p.Ser341=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505472]|not provided [RCV000971178] Chr2:215425107 [GRCh38]
Chr2:216289830 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1923C>T (p.Tyr641=) single nucleotide variant not provided [RCV000915704] Chr2:215414855 [GRCh38]
Chr2:216279578 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3118A>G (p.Arg1040Gly) single nucleotide variant not provided [RCV000915752] Chr2:215404524 [GRCh38]
Chr2:216269247 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.117C>G (p.Pro39=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479144]|not provided [RCV000976666] Chr2:215435686 [GRCh38]
Chr2:216300409 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) single nucleotide variant Chronic kidney disease [RCV001171339]|not provided [RCV000960239]|not specified [RCV001726390] Chr2:215386815 [GRCh38]
Chr2:216251538 [GRCh37]
Chr2:2q35		 benign|likely benign|uncertain significance
NM_212482.4(FN1):c.2144C>T (p.Thr715Met) single nucleotide variant FN1-related condition [RCV003960455]|not provided [RCV000927216] Chr2:215409718 [GRCh38]
Chr2:216274441 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7182C>T (p.His2394=) single nucleotide variant not provided [RCV000972642] Chr2:215364948 [GRCh38]
Chr2:216229671 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1775G>A (p.Arg592His) single nucleotide variant Chronic kidney disease [RCV001171325]|not provided [RCV000973316] Chr2:215419286 [GRCh38]
Chr2:216284009 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_212482.4(FN1):c.1425G>C (p.Gly475=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002502904]|not provided [RCV000946675] Chr2:215422212 [GRCh38]
Chr2:216286935 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.313A>C (p.Thr105Pro) single nucleotide variant not provided [RCV000883043] Chr2:215433426 [GRCh38]
Chr2:216298149 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4444C>T (p.Arg1482Cys) single nucleotide variant not provided [RCV000972690] Chr2:215386857 [GRCh38]
Chr2:216251580 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.2592C>T (p.Ser864=) single nucleotide variant not provided [RCV000972691] Chr2:215407248 [GRCh38]
Chr2:216271971 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.904C>G (p.Pro302Ala) single nucleotide variant not provided [RCV000929131] Chr2:215425226 [GRCh38]
Chr2:216289949 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3837C>T (p.Thr1279=) single nucleotide variant not provided [RCV000946673] Chr2:215393163 [GRCh38]
Chr2:216257886 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5798C>G (p.Thr1933Ser) single nucleotide variant Inborn genetic diseases [RCV003266301] Chr2:215376587 [GRCh38]
Chr2:216241310 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4033G>A (p.Gly1345Ser) single nucleotide variant not provided [RCV000939756] Chr2:215392967 [GRCh38]
Chr2:216257690 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3953C>G (p.Ser1318Cys) single nucleotide variant not provided [RCV000895780] Chr2:215393047 [GRCh38]
Chr2:216257770 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6841G>A (p.Val2281Met) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001253296]|not provided [RCV000895901] Chr2:215370306 [GRCh38]
Chr2:216235029 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.1530C>T (p.Ala510=) single nucleotide variant not provided [RCV000946674] Chr2:215422107 [GRCh38]
Chr2:216286830 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1626C>T (p.Asn542=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505381]|not provided [RCV000930102] Chr2:215420722 [GRCh38]
Chr2:216285445 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3307A>C (p.Ile1103Leu) single nucleotide variant FN1-related condition [RCV003922836]|not provided [RCV000894719] Chr2:215399298 [GRCh38]
Chr2:216264021 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4146A>G (p.Pro1382=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479089]|not provided [RCV000946672] Chr2:215391738 [GRCh38]
Chr2:216256461 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.199C>A (p.Arg67=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002489289]|not provided [RCV000946676] Chr2:215434774 [GRCh38]
Chr2:216299497 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1070G>A (p.Gly357Glu) single nucleotide variant Chronic kidney disease [RCV001171320]|not provided [RCV000974439] Chr2:215424292 [GRCh38]
Chr2:216289015 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.4219A>G (p.Ile1407Val) single nucleotide variant not provided [RCV000949674] Chr2:215391665 [GRCh38]
Chr2:216256388 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3012G>A (p.Gln1004=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002487979]|not provided [RCV000907823] Chr2:215404630 [GRCh38]
Chr2:216269353 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1860G>A (p.Pro620=) single nucleotide variant FN1-related condition [RCV003940747]|Glomerulopathy with fibronectin deposits 2 [RCV002487957]|not provided [RCV000893732] Chr2:215414918 [GRCh38]
Chr2:216279641 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2237C>T (p.Thr746Ile) single nucleotide variant not provided [RCV000801253] Chr2:215409625 [GRCh38]
Chr2:216274348 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.10G>A (p.Gly4Ser) single nucleotide variant not provided [RCV000997658] Chr2:215435793 [GRCh38]
Chr2:216300516 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3517+8_3517+10del microsatellite not provided [RCV000915524] Chr2:215397670..215397672 [GRCh38]
Chr2:216262393..216262395 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.685+1G>C single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV000790509] Chr2:215430714 [GRCh38]
Chr2:216295437 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.44A>T (p.Gln15Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702076]|Spondyloepimetaphyseal dysplasia, Strudwick type [RCV000987029]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702874]|not provided [RCV001521856]|not specified [RCV001529025] Chr2:215435759 [GRCh38]
Chr2:216300482 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002503124]|Inborn genetic diseases [RCV002550546]|not provided [RCV000978352] Chr2:215386742 [GRCh38]
Chr2:216251465 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
Single allele deletion Encephalopathy [RCV000787417] Chr2:215485042..216474011 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1053C>T (p.Tyr351=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002502878]|not provided [RCV000940045] Chr2:215424309 [GRCh38]
Chr2:216289032 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.591C>A (p.Val197=) single nucleotide variant not provided [RCV000893884] Chr2:215430809 [GRCh38]
Chr2:216295532 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6537C>T (p.His2179=) single nucleotide variant not provided [RCV000915952] Chr2:215372086 [GRCh38]
Chr2:216236809 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7209T>C (p.Tyr2403=) single nucleotide variant not provided [RCV000914094] Chr2:215364921 [GRCh38]
Chr2:216229644 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001007576]|Glomerulopathy with fibronectin deposits 2 [RCV002479202]|not provided [RCV001860576] Chr2:215419304 [GRCh38]
Chr2:216284027 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.340C>T (p.Arg114Cys) single nucleotide variant not provided [RCV002001717] Chr2:215433399 [GRCh38]
Chr2:216298122 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4253A>G (p.Asn1418Ser) single nucleotide variant Inborn genetic diseases [RCV003271591] Chr2:215388301 [GRCh38]
Chr2:216253024 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7408G>C (p.Ala2470Pro) single nucleotide variant Chronic kidney disease [RCV001171352]|not provided [RCV002559642] Chr2:215361581 [GRCh38]
Chr2:216226304 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5621T>C (p.Met1874Thr) single nucleotide variant not provided [RCV003106453] Chr2:215379131 [GRCh38]
Chr2:216243854 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-181_7019-180insT insertion not provided [RCV001549553] Chr2:215365810..215365811 [GRCh38]
Chr2:216230533..216230534 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.845-250A>G single nucleotide variant not provided [RCV001569948] Chr2:215425535 [GRCh38]
Chr2:216290258 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1675+35A>G single nucleotide variant not provided [RCV001547666] Chr2:215420638 [GRCh38]
Chr2:216285361 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1781T>C (p.Ile594Thr) single nucleotide variant not provided [RCV003106560] Chr2:215419280 [GRCh38]
Chr2:216284003 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3517+56A>G single nucleotide variant not provided [RCV001671130] Chr2:215397624 [GRCh38]
Chr2:216262347 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+128TG[12] microsatellite not provided [RCV001655032] Chr2:215407955..215407956 [GRCh38]
Chr2:216272678..216272679 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6853+298C>G single nucleotide variant not provided [RCV001635656] Chr2:215369996 [GRCh38]
Chr2:216234719 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2714-198A>G single nucleotide variant not provided [RCV001555081] Chr2:215406708 [GRCh38]
Chr2:216271431 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6714+150A>G single nucleotide variant not provided [RCV001597604] Chr2:215371759 [GRCh38]
Chr2:216236482 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6714+235del deletion not provided [RCV001637708] Chr2:215371674 [GRCh38]
Chr2:216236397 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+128TG[10] microsatellite not provided [RCV001608447] Chr2:215407955..215407960 [GRCh38]
Chr2:216272678..216272683 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3605-146C>A single nucleotide variant not provided [RCV001597977] Chr2:215394865 [GRCh38]
Chr2:216259588 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3254-196C>A single nucleotide variant not provided [RCV001651830] Chr2:215399547 [GRCh38]
Chr2:216264270 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+12G>C single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703009]|Glomerulopathy with fibronectin deposits 2 [RCV002501862]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703010]|not provided [RCV001535099]|not specified [RCV001529205] Chr2:215408096 [GRCh38]
Chr2:216272819 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1037-21C>G single nucleotide variant not provided [RCV001569105] Chr2:215424346 [GRCh38]
Chr2:216289069 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4069+21C>T single nucleotide variant not provided [RCV001576639] Chr2:215392910 [GRCh38]
Chr2:216257633 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1216+108C>T single nucleotide variant not provided [RCV001556060] Chr2:215424038 [GRCh38]
Chr2:216288761 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4894+34_4894+35del deletion not provided [RCV001715966] Chr2:215383985..215383986 [GRCh38]
Chr2:216248708..216248709 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.278-229T>G single nucleotide variant not provided [RCV001684693] Chr2:215433690 [GRCh38]
Chr2:216298413 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2713+175G>C single nucleotide variant not provided [RCV001616114] Chr2:215406952 [GRCh38]
Chr2:216271675 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4070-78A>G single nucleotide variant not provided [RCV001674264] Chr2:215391892 [GRCh38]
Chr2:216256615 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6714+285dup duplication not provided [RCV001687209] Chr2:215371610..215371611 [GRCh38]
Chr2:216236333..216236334 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+277G>C single nucleotide variant not provided [RCV001657357] Chr2:215423073 [GRCh38]
Chr2:216287796 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-228G>T single nucleotide variant not provided [RCV001667143] Chr2:215368255 [GRCh38]
Chr2:216232978 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+314T>C single nucleotide variant not provided [RCV001577044] Chr2:215367549 [GRCh38]
Chr2:216232272 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-303C>T single nucleotide variant not provided [RCV001556682] Chr2:215365933 [GRCh38]
Chr2:216230656 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3253+79A>C single nucleotide variant not provided [RCV001680022] Chr2:215404310 [GRCh38]
Chr2:216269033 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4895-254T>G single nucleotide variant not provided [RCV001696576] Chr2:215383737 [GRCh38]
Chr2:216248460 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-150A>G single nucleotide variant not provided [RCV001589401] Chr2:215365780 [GRCh38]
Chr2:216230503 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4730-210G>A single nucleotide variant not provided [RCV001551355] Chr2:215384394 [GRCh38]
Chr2:216249117 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.277+280dup duplication not provided [RCV001717865] Chr2:215434408..215434409 [GRCh38]
Chr2:216299131..216299132 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+287G>T single nucleotide variant not provided [RCV001689344] Chr2:215367576 [GRCh38]
Chr2:216232299 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7144+197A>C single nucleotide variant not provided [RCV001557655] Chr2:215365308 [GRCh38]
Chr2:216230031 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-308C>T single nucleotide variant not provided [RCV001571761] Chr2:215385284 [GRCh38]
Chr2:216250007 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4895-99C>A single nucleotide variant not provided [RCV001718465] Chr2:215383582 [GRCh38]
Chr2:216248305 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6158-275_6158-261del deletion not provided [RCV001640022] Chr2:215373672..215373686 [GRCh38]
Chr2:216238395..216238409 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5165-277T>C single nucleotide variant not provided [RCV001710336] Chr2:215381357 [GRCh38]
Chr2:216246080 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-61_6854-59del microsatellite not provided [RCV001665294] Chr2:215368086..215368088 [GRCh38]
Chr2:216232809..216232811 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1942-38GT[10] microsatellite not provided [RCV001620606] Chr2:215410131..215410132 [GRCh38]
Chr2:216274854..216274855 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6714+233_6714+235del deletion not provided [RCV001694675] Chr2:215371674..215371676 [GRCh38]
Chr2:216236397..216236399 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5888-143A>C single nucleotide variant not provided [RCV001654712] Chr2:215375861 [GRCh38]
Chr2:216240584 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1216+30T>G single nucleotide variant not provided [RCV001656653] Chr2:215424116 [GRCh38]
Chr2:216288839 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1676-177del deletion not provided [RCV001686504] Chr2:215419562 [GRCh38]
Chr2:216284285 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+161del deletion not provided [RCV001654804] Chr2:215407947 [GRCh38]
Chr2:216272670 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4343-16C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702194]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702034]|not provided [RCV001713690] Chr2:215386974 [GRCh38]
Chr2:216251697 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-307G>A single nucleotide variant not provided [RCV001708287] Chr2:215385283 [GRCh38]
Chr2:216250006 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4894+137A>G single nucleotide variant not provided [RCV001673727] Chr2:215383883 [GRCh38]
Chr2:216248606 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4069+253C>T single nucleotide variant not provided [RCV001583369] Chr2:215392678 [GRCh38]
Chr2:216257401 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+97_7362+98dup duplication not provided [RCV001567305] Chr2:215361861..215361862 [GRCh38]
Chr2:216226584..216226585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1200C>T (p.Phe400=) single nucleotide variant not provided [RCV000889095] Chr2:215424162 [GRCh38]
Chr2:216288885 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1062C>T (p.Asn354=) single nucleotide variant not provided [RCV000930583] Chr2:215424300 [GRCh38]
Chr2:216289023 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5964C>A (p.Ile1988=) single nucleotide variant not provided [RCV000909202] Chr2:215375642 [GRCh38]
Chr2:216240365 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1398C>T (p.His466=) single nucleotide variant not provided [RCV000936928] Chr2:215422239 [GRCh38]
Chr2:216286962 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4164C>T (p.Asn1388=) single nucleotide variant not provided [RCV000908603] Chr2:215391720 [GRCh38]
Chr2:216256443 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5954C>A (p.Pro1985His) single nucleotide variant Chronic kidney disease [RCV001171348]|not provided [RCV000895375] Chr2:215375652 [GRCh38]
Chr2:216240375 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.7018+7A>G single nucleotide variant not provided [RCV000955300] Chr2:215367856 [GRCh38]
Chr2:216232579 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4791C>T (p.Ser1597=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002489326]|not provided [RCV000955301] Chr2:215384123 [GRCh38]
Chr2:216248846 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6840C>T (p.Thr2280=) single nucleotide variant not provided [RCV000923917] Chr2:215370307 [GRCh38]
Chr2:216235030 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4626G>A (p.Pro1542=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505380]|not provided [RCV000929984] Chr2:215384963 [GRCh38]
Chr2:216249686 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2129C>T (p.Thr710Ile) single nucleotide variant not provided [RCV000888931] Chr2:215409733 [GRCh38]
Chr2:216274456 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2772C>T (p.Thr924=) single nucleotide variant not provided [RCV000917469] Chr2:215406452 [GRCh38]
Chr2:216271175 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6600C>T (p.Ala2200=) single nucleotide variant not provided [RCV000916733] Chr2:215372023 [GRCh38]
Chr2:216236746 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.56C>T (p.Thr19Ile) single nucleotide variant not provided [RCV000886433] Chr2:215435747 [GRCh38]
Chr2:216300470 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.54G>C (p.Gly18=) single nucleotide variant not provided [RCV000891194] Chr2:215435749 [GRCh38]
Chr2:216300472 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6249C>T (p.Asp2083=) single nucleotide variant not provided [RCV000913304] Chr2:215372374 [GRCh38]
Chr2:216237097 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1361C>A (p.Ala454Asp) single nucleotide variant Inborn genetic diseases [RCV003169284]|not provided [RCV000911176] Chr2:215423382 [GRCh38]
Chr2:216288105 [GRCh37]
Chr2:2q35		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.2130C>T (p.Thr710=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505338]|not provided [RCV000911434] Chr2:215409732 [GRCh38]
Chr2:216274455 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6639A>C (p.Ser2213=) single nucleotide variant not provided [RCV000913874] Chr2:215371984 [GRCh38]
Chr2:216236707 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2808C>G (p.Gly936=) single nucleotide variant not provided [RCV000889620] Chr2:215406416 [GRCh38]
Chr2:216271139 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4056G>A (p.Leu1352=) single nucleotide variant not provided [RCV000913909] Chr2:215392944 [GRCh38]
Chr2:216257667 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5649C>G (p.Val1883=) single nucleotide variant not provided [RCV000913924] Chr2:215378236 [GRCh38]
Chr2:216242959 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2538G>A (p.Ser846=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479060]|not provided [RCV000913958] Chr2:215407302 [GRCh38]
Chr2:216272025 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1547-6A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002501462]|not provided [RCV000890761] Chr2:215420807 [GRCh38]
Chr2:216285530 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1449G>A (p.Gln483=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505344]|not provided [RCV000912690] Chr2:215422188 [GRCh38]
Chr2:216286911 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3517+3A>G single nucleotide variant not provided [RCV000890474] Chr2:215397677 [GRCh38]
Chr2:216262400 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3518-180_3518-179del deletion not provided [RCV001530598] Chr2:215397402..215397403 [GRCh38]
Chr2:216262125..216262126 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5623-259dup duplication not provided [RCV001539461] Chr2:215378513..215378514 [GRCh38]
Chr2:216243236..216243237 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.148+193G>A single nucleotide variant not provided [RCV001656622] Chr2:215435462 [GRCh38]
Chr2:216300185 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1942-38GT[12] microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002501995]|not provided [RCV001660895] Chr2:215410130..215410131 [GRCh38]
Chr2:216274853..216274854 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-44A>G single nucleotide variant not provided [RCV001570047] Chr2:215393247 [GRCh38]
Chr2:216257970 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.845-139A>T single nucleotide variant not provided [RCV001598028] Chr2:215425424 [GRCh38]
Chr2:216290147 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-180_7019-177del deletion not provided [RCV001558063] Chr2:215365807..215365810 [GRCh38]
Chr2:216230530..216230533 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3797-24T>C single nucleotide variant not provided [RCV001593606] Chr2:215393227 [GRCh38]
Chr2:216257950 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7363-72dup duplication not provided [RCV001578135] Chr2:215361694..215361695 [GRCh38]
Chr2:216226417..216226418 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1547-205G>A single nucleotide variant not provided [RCV001595536] Chr2:215421006 [GRCh38]
Chr2:216285729 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7362+107del deletion not provided [RCV001552577] Chr2:215361862 [GRCh38]
Chr2:216226585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7363-44C>T single nucleotide variant not provided [RCV001552968] Chr2:215361670 [GRCh38]
Chr2:216226393 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7144+195A>G single nucleotide variant not provided [RCV001665425] Chr2:215365310 [GRCh38]
Chr2:216230033 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5622+268A>G single nucleotide variant not provided [RCV001620158] Chr2:215378862 [GRCh38]
Chr2:216243585 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3253+81_3253+82insCAAAA insertion not provided [RCV001568530] Chr2:215404307..215404308 [GRCh38]
Chr2:216269030..216269031 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7144+202del deletion not provided [RCV001560399] Chr2:215365303 [GRCh38]
Chr2:216230026 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.547+19T>C single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002495904]|not provided [RCV001566172] Chr2:215431814 [GRCh38]
Chr2:216296537 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1394-55A>G single nucleotide variant not provided [RCV001560980] Chr2:215422298 [GRCh38]
Chr2:216287021 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-275_4613-273del deletion not provided [RCV001561266] Chr2:215385249..215385251 [GRCh38]
Chr2:216249972..216249974 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2300-63G>T single nucleotide variant not provided [RCV001594289] Chr2:215408489 [GRCh38]
Chr2:216273212 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.685+157C>T single nucleotide variant not provided [RCV001689403] Chr2:215430558 [GRCh38]
Chr2:216295281 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4787T>C (p.Ile1596Thr) single nucleotide variant Inborn genetic diseases [RCV003253600] Chr2:215384127 [GRCh38]
Chr2:216248850 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.411C>T (p.Ile137=) single nucleotide variant not provided [RCV003106764] Chr2:215433328 [GRCh38]
Chr2:216298051 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2605G>A (p.Asp869Asn) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV002471456] Chr2:215407235 [GRCh38]
Chr2:216271958 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.149-27_149-25dup duplication not provided [RCV001687105] Chr2:215434848..215434849 [GRCh38]
Chr2:216299571..216299572 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1820-325G>A single nucleotide variant not provided [RCV001720450] Chr2:215415283 [GRCh38]
Chr2:216280006 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6715-122G>T single nucleotide variant not provided [RCV001713529] Chr2:215370554 [GRCh38]
Chr2:216235277 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1217-36A>T single nucleotide variant not provided [RCV001695751] Chr2:215423562 [GRCh38]
Chr2:216288285 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-120G>A single nucleotide variant not provided [RCV001715967] Chr2:215385096 [GRCh38]
Chr2:216249819 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6248-327GA[2] microsatellite not provided [RCV001596740] Chr2:215372697..215372698 [GRCh38]
Chr2:216237420..216237421 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1820-255T>A single nucleotide variant not provided [RCV001713742] Chr2:215415213 [GRCh38]
Chr2:216279936 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6715-122_6715-117del deletion not provided [RCV001671898] Chr2:215370549..215370554 [GRCh38]
Chr2:216235272..216235277 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+62C>T single nucleotide variant not provided [RCV001595308] Chr2:215408046 [GRCh38]
Chr2:216272769 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-274G>A single nucleotide variant not provided [RCV001677840] Chr2:215365904 [GRCh38]
Chr2:216230627 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-180A>T single nucleotide variant not provided [RCV001639118] Chr2:215365810 [GRCh38]
Chr2:216230533 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6158-265_6158-261del deletion not provided [RCV001616218] Chr2:215373672..215373676 [GRCh38]
Chr2:216238395..216238399 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.685+101T>C single nucleotide variant not provided [RCV001714110] Chr2:215430614 [GRCh38]
Chr2:216295337 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2105C>T (p.Thr702Ile) single nucleotide variant not provided [RCV001723453] Chr2:215409951 [GRCh38]
Chr2:216274674 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3348+274C>T single nucleotide variant not provided [RCV001639324] Chr2:215398983 [GRCh38]
Chr2:216263706 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+138TG[17] microsatellite not provided [RCV001597919] Chr2:215423180..215423181 [GRCh38]
Chr2:216287903..216287904 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7362+50T>G single nucleotide variant not provided [RCV001598025] Chr2:215361919 [GRCh38]
Chr2:216226642 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4252+128C>G single nucleotide variant not provided [RCV001598105] Chr2:215391504 [GRCh38]
Chr2:216256227 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.685+246C>A single nucleotide variant not provided [RCV001657390] Chr2:215430469 [GRCh38]
Chr2:216295192 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6714+221A>G single nucleotide variant not provided [RCV001598056] Chr2:215371688 [GRCh38]
Chr2:216236411 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+138TG[18] microsatellite not provided [RCV001678468] Chr2:215423180..215423181 [GRCh38]
Chr2:216287903..216287904 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5050+169G>C single nucleotide variant not provided [RCV001678509] Chr2:215383159 [GRCh38]
Chr2:216247882 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-276_4613-273del deletion not provided [RCV001686499] Chr2:215385249..215385252 [GRCh38]
Chr2:216249972..216249975 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1675+301_1675+302insG insertion not provided [RCV001673561] Chr2:215420371..215420372 [GRCh38]
Chr2:216285094..216285095 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7144+12C>G single nucleotide variant not provided [RCV001718469] Chr2:215365493 [GRCh38]
Chr2:216230216 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+160del deletion not provided [RCV001620027] Chr2:215407948 [GRCh38]
Chr2:216272671 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7252-151C>T single nucleotide variant not provided [RCV001620082] Chr2:215362230 [GRCh38]
Chr2:216226953 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3253+210G>A single nucleotide variant not provided [RCV001678190] Chr2:215404179 [GRCh38]
Chr2:216268902 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5622+203T>C single nucleotide variant not provided [RCV001637938] Chr2:215378927 [GRCh38]
Chr2:216243650 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1675+309GTTTTT[3] microsatellite not provided [RCV001698812] Chr2:215420341..215420346 [GRCh38]
Chr2:216285064..216285069 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4729+201C>G single nucleotide variant not provided [RCV001568037] Chr2:215384659 [GRCh38]
Chr2:216249382 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.415+90G>T single nucleotide variant not provided [RCV001548711] Chr2:215433234 [GRCh38]
Chr2:216297957 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3797-325T>C single nucleotide variant not provided [RCV001718462] Chr2:215393528 [GRCh38]
Chr2:216258251 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+138TG[21] microsatellite not provided [RCV001654233] Chr2:215423180..215423181 [GRCh38]
Chr2:216287903..216287904 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-198G>A single nucleotide variant not provided [RCV001677054] Chr2:215368225 [GRCh38]
Chr2:216232948 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-244_3797-243insT insertion not provided [RCV001677092] Chr2:215393446..215393447 [GRCh38]
Chr2:216258169..216258170 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+223A>G single nucleotide variant not provided [RCV001658786] Chr2:215367640 [GRCh38]
Chr2:216232363 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.416-54dup duplication not provided [RCV001598734] Chr2:215432007..215432008 [GRCh38]
Chr2:216296730..216296731 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5711-45G>A single nucleotide variant not provided [RCV001638313] Chr2:215376719 [GRCh38]
Chr2:216241442 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3253+81C>A single nucleotide variant not provided [RCV001598903] Chr2:215404308 [GRCh38]
Chr2:216269031 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-181A>T single nucleotide variant not provided [RCV001613848] Chr2:215365811 [GRCh38]
Chr2:216230534 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6158-186T>C single nucleotide variant not provided [RCV001599001] Chr2:215373597 [GRCh38]
Chr2:216238320 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1394-127T>C single nucleotide variant not provided [RCV001710179] Chr2:215422370 [GRCh38]
Chr2:216287093 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3349-20C>G single nucleotide variant not provided [RCV001671766] Chr2:215397868 [GRCh38]
Chr2:216262591 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.685+126A>T single nucleotide variant not provided [RCV001680747] Chr2:215430589 [GRCh38]
Chr2:216295312 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1216+92C>T single nucleotide variant not provided [RCV001665736] Chr2:215424054 [GRCh38]
Chr2:216288777 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5978-12_5978-11del deletion not provided [RCV001612004] Chr2:215375404..215375405 [GRCh38]
Chr2:216240127..216240128 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.685+247A>C single nucleotide variant not provided [RCV001714736] Chr2:215430468 [GRCh38]
Chr2:216295191 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-178_7019-177del deletion not provided [RCV001707312] Chr2:215365807..215365808 [GRCh38]
Chr2:216230530..216230531 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.416-173C>T single nucleotide variant not provided [RCV001679959] Chr2:215432137 [GRCh38]
Chr2:216296860 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4252+204A>T single nucleotide variant not provided [RCV001710697] Chr2:215391428 [GRCh38]
Chr2:216256151 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1037-218_1037-215del deletion not provided [RCV001671465] Chr2:215424540..215424543 [GRCh38]
Chr2:216289263..216289266 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+30G>A single nucleotide variant not provided [RCV001678858] Chr2:215367833 [GRCh38]
Chr2:216232556 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+161T>G single nucleotide variant not provided [RCV001694760] Chr2:215407947 [GRCh38]
Chr2:216272670 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4070-170A>G single nucleotide variant not provided [RCV001616825] Chr2:215391984 [GRCh38]
Chr2:216256707 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7018+30G>T single nucleotide variant not provided [RCV001614342] Chr2:215367833 [GRCh38]
Chr2:216232556 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4069+307G>T single nucleotide variant not provided [RCV001690113] Chr2:215392624 [GRCh38]
Chr2:216257347 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1216+28A>G single nucleotide variant not provided [RCV001680992] Chr2:215424118 [GRCh38]
Chr2:216288841 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1675+295dup duplication not provided [RCV001609510] Chr2:215420368..215420369 [GRCh38]
Chr2:216285091..216285092 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6853+29G>A single nucleotide variant not provided [RCV001587177] Chr2:215370265 [GRCh38]
Chr2:216234988 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3518-180G>A single nucleotide variant not provided [RCV001613988] Chr2:215397403 [GRCh38]
Chr2:216262126 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+138TG[19] microsatellite not provided [RCV001665727] Chr2:215423180..215423181 [GRCh38]
Chr2:216287903..216287904 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.148+89C>T single nucleotide variant not provided [RCV001665410] Chr2:215435566 [GRCh38]
Chr2:216300289 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6715-115G>T single nucleotide variant not provided [RCV001644091] Chr2:215370547 [GRCh38]
Chr2:216235270 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.278-46G>A single nucleotide variant not provided [RCV001611578] Chr2:215433507 [GRCh38]
Chr2:216298230 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3349-50T>G single nucleotide variant not provided [RCV001611587] Chr2:215397898 [GRCh38]
Chr2:216262621 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7144+147A>G single nucleotide variant not provided [RCV001709792] Chr2:215365358 [GRCh38]
Chr2:216230081 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-243_3797-242insT insertion not provided [RCV001682189] Chr2:215393445..215393446 [GRCh38]
Chr2:216258168..216258169 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5435-35A>G single nucleotide variant not provided [RCV001678925] Chr2:215379352 [GRCh38]
Chr2:216244075 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2300-303C>T single nucleotide variant not provided [RCV001710823] Chr2:215408729 [GRCh38]
Chr2:216273452 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-242AT[10] microsatellite not provided [RCV001694622] Chr2:215393427..215393428 [GRCh38]
Chr2:216258150..216258151 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2987-262C>T single nucleotide variant not provided [RCV001612380] Chr2:215404917 [GRCh38]
Chr2:216269640 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5051-175G>C single nucleotide variant not provided [RCV001580830] Chr2:215382500 [GRCh38]
Chr2:216247223 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1394-310T>C single nucleotide variant not provided [RCV001663147] Chr2:215422553 [GRCh38]
Chr2:216287276 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1819+269_1819+270del microsatellite not provided [RCV001682268] Chr2:215418972..215418973 [GRCh38]
Chr2:216283695..216283696 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6157+304C>G single nucleotide variant not provided [RCV001666390] Chr2:215374910 [GRCh38]
Chr2:216239633 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1393+138TG[15] microsatellite not provided [RCV001679188] Chr2:215423181..215423182 [GRCh38]
Chr2:216287904..216287905 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6854-179C>T single nucleotide variant not provided [RCV001665147] Chr2:215368206 [GRCh38]
Chr2:216232929 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.277+298A>G single nucleotide variant not provided [RCV001691744] Chr2:215434398 [GRCh38]
Chr2:216299121 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4894+221T>A single nucleotide variant not provided [RCV001681526] Chr2:215383799 [GRCh38]
Chr2:216248522 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6158-274_6158-261del deletion not provided [RCV001669730] Chr2:215373672..215373685 [GRCh38]
Chr2:216238395..216238408 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1217-231dup duplication not provided [RCV001714048] Chr2:215423749..215423750 [GRCh38]
Chr2:216288472..216288473 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.844+126T>C single nucleotide variant not provided [RCV001614795] Chr2:215428054 [GRCh38]
Chr2:216292777 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6779_6781del (p.Asn2260_Val2261delinsIle) deletion Glomerulopathy with fibronectin deposits 2 [RCV001029998] Chr2:215370366..215370368 [GRCh38]
Chr2:216235089..216235091 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1942-38GT[9] microsatellite not provided [RCV001539984] Chr2:215410131..215410134 [GRCh38]
Chr2:216274854..216274857 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7145-142G>A single nucleotide variant not provided [RCV001708193] Chr2:215365127 [GRCh38]
Chr2:216229850 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1037-295C>T single nucleotide variant not provided [RCV001692991] Chr2:215424620 [GRCh38]
Chr2:216289343 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.*130C>T single nucleotide variant not provided [RCV001586238] Chr2:215361425 [GRCh38]
Chr2:216226148 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4252+11G>C single nucleotide variant not provided [RCV001614893] Chr2:215391621 [GRCh38]
Chr2:216256344 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2518+128TG[11] microsatellite not provided [RCV001713535] Chr2:215407955..215407958 [GRCh38]
Chr2:216272678..216272681 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1216+74C>T single nucleotide variant not provided [RCV001695752] Chr2:215424072 [GRCh38]
Chr2:216288795 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-177del deletion not provided [RCV001689415] Chr2:215365807 [GRCh38]
Chr2:216230530 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4070-238T>C single nucleotide variant not provided [RCV001684065] Chr2:215392052 [GRCh38]
Chr2:216256775 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5711-188T>A single nucleotide variant not provided [RCV001588415] Chr2:215376862 [GRCh38]
Chr2:216241585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1941+287T>C single nucleotide variant not provided [RCV001690858] Chr2:215414550 [GRCh38]
Chr2:216279273 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3130G>A (p.Val1044Met) single nucleotide variant Chronic kidney disease [RCV001171334]|Glomerulopathy with fibronectin deposits 2 [RCV002483933]|not provided [RCV001873581] Chr2:215404512 [GRCh38]
Chr2:216269235 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3605-261A>G single nucleotide variant not provided [RCV001545402] Chr2:215394980 [GRCh38]
Chr2:216259703 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6746C>A (p.Thr2249Asn) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001254632] Chr2:215370401 [GRCh38]
Chr2:216235124 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.374G>C (p.Cys125Ser) single nucleotide variant Inborn genetic diseases [RCV001266362] Chr2:215433365 [GRCh38]
Chr2:216298088 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6853+36C>G single nucleotide variant not provided [RCV001580841] Chr2:215370258 [GRCh38]
Chr2:216234981 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6715-104T>G single nucleotide variant not provided [RCV001580905] Chr2:215370536 [GRCh38]
Chr2:216235259 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_212482.4(FN1):c.1247A>G (p.Asn416Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002504550]|not provided [RCV001348047] Chr2:215423496 [GRCh38]
Chr2:216288219 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.5165-88T>A single nucleotide variant not provided [RCV001581323] Chr2:215381168 [GRCh38]
Chr2:216245891 [GRCh37]
Chr2:2q35		 likely benign
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 likely pathogenic
NM_212482.4(FN1):c.3605-37C>T single nucleotide variant not provided [RCV001641576] Chr2:215394756 [GRCh38]
Chr2:216259479 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4612+133A>G single nucleotide variant not provided [RCV001580860] Chr2:215386556 [GRCh38]
Chr2:216251279 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3020A>G (p.Asn1007Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499705]|not provided [RCV001352226] Chr2:215404622 [GRCh38]
Chr2:216269345 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.*1_*4dup (p.Ter2478=) duplication Glomerulopathy with fibronectin deposits 2 [RCV001336198] Chr2:215361550..215361551 [GRCh38]
Chr2:216226273..216226274 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.4159A>G (p.Thr1387Ala) single nucleotide variant not provided [RCV001314706] Chr2:215391725 [GRCh38]
Chr2:216256448 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.12:g.215349854_215435010del deletion Megacolon [RCV001290046] Chr2:215349854..215435010 [GRCh38]
Chr2:216214577..216299733 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5735G>A (p.Arg1912His) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493599]|not provided [RCV001305158] Chr2:215376650 [GRCh38]
Chr2:216241373 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.869G>A (p.Arg290His) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499621]|not provided [RCV001320616] Chr2:215425261 [GRCh38]
Chr2:216289984 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV001321118] Chr2:215435678 [GRCh38]
Chr2:216300401 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3364A>C (p.Ser1122Arg) single nucleotide variant not provided [RCV001303779] Chr2:215397833 [GRCh38]
Chr2:216262556 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6280C>G (p.Pro2094Ala) single nucleotide variant not provided [RCV001319279] Chr2:215372343 [GRCh38]
Chr2:216237066 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493893]|not provided [RCV001372112] Chr2:215422201 [GRCh38]
Chr2:216286924 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.519A>G (p.Gly173=) single nucleotide variant FN1-related condition [RCV003965794]|not provided [RCV001422197] Chr2:215431861 [GRCh38]
Chr2:216296584 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4052C>T (p.Thr1351Ile) single nucleotide variant Inborn genetic diseases [RCV002547774]|not provided [RCV001361548] Chr2:215392948 [GRCh38]
Chr2:216257671 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3634C>G (p.Pro1212Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001336197] Chr2:215394690 [GRCh38]
Chr2:216259413 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2428+2T>C single nucleotide variant not provided [RCV001368995] Chr2:215408296 [GRCh38]
Chr2:216273019 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002476632]|not provided [RCV001356595] Chr2:215399316 [GRCh38]
Chr2:216264039 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3479A>G (p.Gln1160Arg) single nucleotide variant not provided [RCV001316533] Chr2:215397718 [GRCh38]
Chr2:216262441 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2429C>T (p.Ala810Val) single nucleotide variant FN1-related condition [RCV003416181]|Glomerulopathy with fibronectin deposits 2 [RCV002476420]|not provided [RCV001307844] Chr2:215408197 [GRCh38]
Chr2:216272920 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6964C>G (p.Leu2322Val) single nucleotide variant not provided [RCV001369568] Chr2:215367917 [GRCh38]
Chr2:216232640 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5972C>G (p.Ser1991Cys) single nucleotide variant not provided [RCV001313476] Chr2:215375634 [GRCh38]
Chr2:216240357 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3061C>T (p.Arg1021Trp) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493836]|not provided [RCV001359096] Chr2:215404581 [GRCh38]
Chr2:216269304 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.4536C>A (p.Gly1512=) single nucleotide variant not provided [RCV001433498] Chr2:215386765 [GRCh38]
Chr2:216251488 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5608G>T (p.Val1870Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499769]|not provided [RCV001373480] Chr2:215379144 [GRCh38]
Chr2:216243867 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3150G>C (p.Lys1050Asn) single nucleotide variant not provided [RCV001373202] Chr2:215404492 [GRCh38]
Chr2:216269215 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6308A>G (p.Asp2103Gly) single nucleotide variant not provided [RCV001367897] Chr2:215372315 [GRCh38]
Chr2:216237038 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499690]|not provided [RCV001345791] Chr2:215375250 [GRCh38]
Chr2:216239973 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2243C>T (p.Ser748Leu) single nucleotide variant not provided [RCV001369443] Chr2:215409619 [GRCh38]
Chr2:216274342 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1054G>A (p.Gly352Ser) single nucleotide variant not provided [RCV001320139] Chr2:215424308 [GRCh38]
Chr2:216289031 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6769G>C (p.Ala2257Pro) single nucleotide variant not provided [RCV001296045] Chr2:215370378 [GRCh38]
Chr2:216235101 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7310C>T (p.Thr2437Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486356]|not provided [RCV001338706] Chr2:215362021 [GRCh38]
Chr2:216226744 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7213G>A (p.Gly2405Ser) single nucleotide variant not provided [RCV001351034] Chr2:215364917 [GRCh38]
Chr2:216229640 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3142G>C (p.Val1048Leu) single nucleotide variant not provided [RCV001309815] Chr2:215404500 [GRCh38]
Chr2:216269223 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4262C>G (p.Pro1421Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486415]|Inborn genetic diseases [RCV003346503]|not provided [RCV001346852] Chr2:215388292 [GRCh38]
Chr2:216253015 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.1169C>T (p.Ser390Leu) single nucleotide variant not provided [RCV001316729] Chr2:215424193 [GRCh38]
Chr2:216288916 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3466C>G (p.Leu1156Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001269410]|not provided [RCV001880177] Chr2:215397731 [GRCh38]
Chr2:216262454 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6853+12C>G single nucleotide variant not provided [RCV001354069] Chr2:215370282 [GRCh38]
Chr2:216235005 [GRCh37]
Chr2:2q35		 benign|uncertain significance
NM_212482.4(FN1):c.860C>T (p.Thr287Ile) single nucleotide variant not provided [RCV001298185] Chr2:215425270 [GRCh38]
Chr2:216289993 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.148+3G>A single nucleotide variant not provided [RCV001363166] Chr2:215435652 [GRCh38]
Chr2:216300375 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.320G>C (p.Arg107Pro) single nucleotide variant Inborn genetic diseases [RCV002548662]|not provided [RCV001372471] Chr2:215433419 [GRCh38]
Chr2:216298142 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4976_4977del (p.Pro1659fs) deletion not provided [RCV001350452] Chr2:215383401..215383402 [GRCh38]
Chr2:216248124..216248125 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.514A>G (p.Asn172Asp) single nucleotide variant Inborn genetic diseases [RCV002546203]|not provided [RCV001326869] Chr2:215431866 [GRCh38]
Chr2:216296589 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6506C>T (p.Pro2169Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002476531]|not provided [RCV001325835] Chr2:215372117 [GRCh38]
Chr2:216236840 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3910G>A (p.Ala1304Thr) single nucleotide variant Inborn genetic diseases [RCV002545003]|not provided [RCV001307106] Chr2:215393090 [GRCh38]
Chr2:216257813 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5741C>A (p.Thr1914Lys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002504450]|not provided [RCV001300854] Chr2:215376644 [GRCh38]
Chr2:216241367 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3271A>G (p.Ile1091Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002504499]|not provided [RCV001320990] Chr2:215399334 [GRCh38]
Chr2:216264057 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2299+3A>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486205]|not provided [RCV001308167] Chr2:215409560 [GRCh38]
Chr2:216274283 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_212482.4(FN1):c.2519-5T>A single nucleotide variant not provided [RCV001339433] Chr2:215407326 [GRCh38]
Chr2:216272049 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.141A>C (p.Gln47His) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493561]|not provided [RCV001296732] Chr2:215435662 [GRCh38]
Chr2:216300385 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.5983G>A (p.Asp1995Asn) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002476661]|not provided [RCV001363888] Chr2:215375388 [GRCh38]
Chr2:216240111 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3062G>A (p.Arg1021Gln) single nucleotide variant FN1-related condition [RCV003399081]|not provided [RCV001306363] Chr2:215404580 [GRCh38]
Chr2:216269303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3491C>T (p.Ala1164Val) single nucleotide variant Inborn genetic diseases [RCV002547393]|not provided [RCV001340007] Chr2:215397706 [GRCh38]
Chr2:216262429 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.4473A>T (p.Arg1491Ser) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001357539] Chr2:215386828 [GRCh38]
Chr2:216251551 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5602G>A (p.Val1868Met) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493837]|not provided [RCV001359382] Chr2:215379150 [GRCh38]
Chr2:216243873 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4857C>T (p.Pro1619=) single nucleotide variant FN1-related condition [RCV003908603]|not provided [RCV001413254] Chr2:215384057 [GRCh38]
Chr2:216248780 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3887T>C (p.Ile1296Thr) single nucleotide variant Inborn genetic diseases [RCV002546181]|not provided [RCV001326434] Chr2:215393113 [GRCh38]
Chr2:216257836 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2633T>G (p.Ile878Ser) single nucleotide variant not provided [RCV001370398] Chr2:215407207 [GRCh38]
Chr2:216271930 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3492G>A (p.Ala1164=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002493972]|not provided [RCV001413385] Chr2:215397705 [GRCh38]
Chr2:216262428 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1601G>A (p.Arg534His) single nucleotide variant not provided [RCV001359482] Chr2:215420747 [GRCh38]
Chr2:216285470 [GRCh37]
Chr2:2q35		 benign|likely benign|uncertain significance
NM_212482.4(FN1):c.3959T>C (p.Val1320Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499587]|not provided [RCV001308008] Chr2:215393041 [GRCh38]
Chr2:216257764 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.456C>T (p.Asp152=) single nucleotide variant not provided [RCV001421420] Chr2:215431924 [GRCh38]
Chr2:216296647 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.412G>A (p.Ala138Thr) single nucleotide variant not provided [RCV001365953] Chr2:215433327 [GRCh38]
Chr2:216298050 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.3288C>T (p.Thr1096=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002495713]|not provided [RCV001478390] Chr2:215399317 [GRCh38]
Chr2:216264040 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002501819]|not provided [RCV001519212] Chr2:215371989 [GRCh38]
Chr2:216236712 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5435-7T>C single nucleotide variant not provided [RCV001516589] Chr2:215379324 [GRCh38]
Chr2:216244047 [GRCh37]
Chr2:2q35		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.7368T>G (p.Val2456=) single nucleotide variant not provided [RCV001520988] Chr2:215361621 [GRCh38]
Chr2:216226344 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3243C>A (p.Val1081=) single nucleotide variant not provided [RCV001503527] Chr2:215404399 [GRCh38]
Chr2:216269122 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3867G>A (p.Pro1289=) single nucleotide variant not provided [RCV001469007] Chr2:215393133 [GRCh38]
Chr2:216257856 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2449A>C (p.Thr817Pro) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703110]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702908]|not provided [RCV001521854] Chr2:215408177 [GRCh38]
Chr2:216272900 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2442T>A (p.Pro814=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702113]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702114]|not provided [RCV001521855]|not specified [RCV001529219] Chr2:215408184 [GRCh38]
Chr2:216272907 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002488289]|not provided [RCV001489266] Chr2:215384870 [GRCh38]
Chr2:216249593 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2714-11_2714-10del deletion FN1-related condition [RCV003940908]|Glomerulopathy with fibronectin deposits 2 [RCV002501773]|not provided [RCV001513052] Chr2:215406520..215406521 [GRCh38]
Chr2:216271243..216271244 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5164+277A>T single nucleotide variant not provided [RCV001643397] Chr2:215381935 [GRCh38]
Chr2:216246658 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-51T>C single nucleotide variant not provided [RCV001608895] Chr2:215385027 [GRCh38]
Chr2:216249750 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4616C>G (p.Ser1539Cys) single nucleotide variant not provided [RCV001409569] Chr2:215384973 [GRCh38]
Chr2:216249696 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.149-3C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702612]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703008]|not provided [RCV001692446]|not specified [RCV001528559] Chr2:215434827 [GRCh38]
Chr2:216299550 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4926C>T (p.Thr1642=) single nucleotide variant not provided [RCV001435702] Chr2:215383452 [GRCh38]
Chr2:216248175 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5160A>C (p.Val1720=) single nucleotide variant not provided [RCV001425905] Chr2:215382216 [GRCh38]
Chr2:216246939 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5435-296dup duplication not provided [RCV001538712] Chr2:215379603..215379604 [GRCh38]
Chr2:216244326..216244327 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.149-4G>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703011]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702915]|not provided [RCV001647364]|not specified [RCV001529980] Chr2:215434828 [GRCh38]
Chr2:216299551 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4252+134A>C single nucleotide variant not provided [RCV001612623] Chr2:215391498 [GRCh38]
Chr2:216256221 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6067G>C (p.Gly2023Arg) single nucleotide variant not provided [RCV001597470] Chr2:215375304 [GRCh38]
Chr2:216240027 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2714-277T>A single nucleotide variant not provided [RCV001653317] Chr2:215406787 [GRCh38]
Chr2:216271510 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6714+100C>T single nucleotide variant not provided [RCV001688488] Chr2:215371809 [GRCh38]
Chr2:216236532 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4894+215C>T single nucleotide variant not provided [RCV001588323] Chr2:215383805 [GRCh38]
Chr2:216248528 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3253+81_3253+82insCAAAAA insertion not provided [RCV001695539] Chr2:215404307..215404308 [GRCh38]
Chr2:216269030..216269031 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3156A>C (p.Pro1052=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702897]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703100]|not provided [RCV001510357] Chr2:215404486 [GRCh38]
Chr2:216269209 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5964C>T (p.Ile1988=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002495803]|not provided [RCV001515743] Chr2:215375642 [GRCh38]
Chr2:216240365 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.807G>A (p.Lys269=) single nucleotide variant FN1-related condition [RCV003908805]|not provided [RCV001510793] Chr2:215428217 [GRCh38]
Chr2:216292940 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.149-82G>C single nucleotide variant not provided [RCV001615806] Chr2:215434906 [GRCh38]
Chr2:216299629 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7251+78del deletion not provided [RCV001589339] Chr2:215364801 [GRCh38]
Chr2:216229524 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.415+172C>T single nucleotide variant not provided [RCV001688166] Chr2:215433152 [GRCh38]
Chr2:216297875 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.845-194A>G single nucleotide variant not provided [RCV001538653] Chr2:215425479 [GRCh38]
Chr2:216290202 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2713+87T>A single nucleotide variant not provided [RCV001669977] Chr2:215407040 [GRCh38]
Chr2:216271763 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1820-269_1820-268del deletion not provided [RCV001673447] Chr2:215415226..215415227 [GRCh38]
Chr2:216279949..216279950 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3253+66C>A single nucleotide variant not provided [RCV001686341] Chr2:215404323 [GRCh38]
Chr2:216269046 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6853+126C>T single nucleotide variant not provided [RCV001715262] Chr2:215370168 [GRCh38]
Chr2:216234891 [GRCh37]
Chr2:2q35		 benign
NC_000002.12:g.215436072C>G single nucleotide variant not provided [RCV001653448] Chr2:215436072 [GRCh38]
Chr2:216300795 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7161T>C (p.Tyr2387=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702111]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702905]|not provided [RCV001521850] Chr2:215364969 [GRCh38]
Chr2:216229692 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6824G>A (p.Arg2275Gln) single nucleotide variant FN1-related condition [RCV003956208]|not provided [RCV001521851] Chr2:215370323 [GRCh38]
Chr2:216235046 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6781G>A (p.Val2261Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702112]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702607]|not provided [RCV001521852]|not specified [RCV001528385] Chr2:215370366 [GRCh38]
Chr2:216235089 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4161C>A (p.Thr1387=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002501589]|not provided [RCV001452500] Chr2:215391723 [GRCh38]
Chr2:216256446 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6714+298del deletion not provided [RCV001682150] Chr2:215371611 [GRCh38]
Chr2:216236334 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-273del deletion not provided [RCV001673779] Chr2:215385249 [GRCh38]
Chr2:216249972 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3797-24del deletion not provided [RCV001649387] Chr2:215393227 [GRCh38]
Chr2:216257950 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3348+41dup duplication not provided [RCV001680601] Chr2:215399215..215399216 [GRCh38]
Chr2:216263938..216263939 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2987-261G>A single nucleotide variant not provided [RCV001687810] Chr2:215404916 [GRCh38]
Chr2:216269639 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1675+21A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703307]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001703308]|not provided [RCV001713691] Chr2:215420652 [GRCh38]
Chr2:216285375 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5435-145_5435-142del microsatellite not provided [RCV001685763] Chr2:215379459..215379462 [GRCh38]
Chr2:216244182..216244185 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4613-274_4613-273del deletion not provided [RCV001618196] Chr2:215385249..215385250 [GRCh38]
Chr2:216249972..216249973 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.378C>T (p.Ile126=) single nucleotide variant not provided [RCV001513544] Chr2:215433361 [GRCh38]
Chr2:216298084 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4342+179A>G single nucleotide variant not provided [RCV001715971] Chr2:215388033 [GRCh38]
Chr2:216252756 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7019-179_7019-177del deletion not provided [RCV001715985] Chr2:215365807..215365809 [GRCh38]
Chr2:216230530..216230532 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1036+34G>T single nucleotide variant not provided [RCV001652340] Chr2:215425060 [GRCh38]
Chr2:216289783 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6715-233T>C single nucleotide variant not provided [RCV001678892] Chr2:215370665 [GRCh38]
Chr2:216235388 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5691A>T (p.Gly1897=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001703103]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702899]|not provided [RCV001513542] Chr2:215378194 [GRCh38]
Chr2:216242917 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1819+7A>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702900]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702901]|not provided [RCV001513543]|not specified [RCV001529298] Chr2:215419235 [GRCh38]
Chr2:216283958 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3517+100del deletion not provided [RCV001674574] Chr2:215397580 [GRCh38]
Chr2:216262303 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6158-34T>C single nucleotide variant not provided [RCV001655195] Chr2:215373445 [GRCh38]
Chr2:216238168 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1764C>T (p.Tyr588=) single nucleotide variant not provided [RCV001453159] Chr2:215419297 [GRCh38]
Chr2:216284020 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001732195]|Glomerulopathy with fibronectin deposits 2 [RCV002488320]|not provided [RCV001513051] Chr2:215367958 [GRCh38]
Chr2:216232681 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.674G>T (p.Cys225Phe) single nucleotide variant not provided [RCV001378235] Chr2:215430726 [GRCh38]
Chr2:216295449 [GRCh37]
Chr2:2q35		 pathogenic|likely pathogenic
NM_212482.4(FN1):c.149-4_149-3delinsTT indel not provided [RCV001513804] Chr2:215434827..215434828 [GRCh38]
Chr2:216299550..216299551 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.219G>T (p.Ala73=) single nucleotide variant not provided [RCV001442458] Chr2:215434754 [GRCh38]
Chr2:216299477 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3111A>C (p.Gly1037=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702598]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702898]|not provided [RCV001510358] Chr2:215404531 [GRCh38]
Chr2:216269254 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5274G>T (p.Ser1758=) single nucleotide variant FN1-related condition [RCV003921097]|not provided [RCV001513179] Chr2:215380971 [GRCh38]
Chr2:216245694 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6915T>C (p.His2305=) single nucleotide variant not provided [RCV001485025] Chr2:215367966 [GRCh38]
Chr2:216232689 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1413A>C (p.Thr471=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002476739]|not provided [RCV001402142] Chr2:215422224 [GRCh38]
Chr2:216286947 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4725G>A (p.Glu1575=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV001702906]|Spondylometaphyseal dysplasia - Sutcliffe type [RCV001702907]|not provided [RCV001521853] Chr2:215384864 [GRCh38]
Chr2:216249587 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.887C>T (p.Pro296Leu) single nucleotide variant not provided [RCV001456450] Chr2:215425243 [GRCh38]
Chr2:216289966 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.547+10T>C single nucleotide variant not provided [RCV001522425] Chr2:215431823 [GRCh38]
Chr2:216296546 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3141T>C (p.Ser1047=) single nucleotide variant FN1-related condition [RCV003955954]|not provided [RCV001437843] Chr2:215404501 [GRCh38]
Chr2:216269224 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.91A>T (p.Arg31Trp) single nucleotide variant not provided [RCV001755097] Chr2:215435712 [GRCh38]
Chr2:216300435 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4123C>T (p.Arg1375Cys) single nucleotide variant not provided [RCV001727184] Chr2:215391761 [GRCh38]
Chr2:216256484 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4720G>A (p.Gly1574Arg) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001728179]|not provided [RCV002032703] Chr2:215384869 [GRCh38]
Chr2:216249592 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3423C>T (p.Ser1141=) single nucleotide variant not provided [RCV003109199] Chr2:215397774 [GRCh38]
Chr2:216262497 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4817C>A (p.Thr1606Asn) single nucleotide variant not provided [RCV001727183] Chr2:215384097 [GRCh38]
Chr2:216248820 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6714+31G>A single nucleotide variant not provided [RCV001762889] Chr2:215371878 [GRCh38]
Chr2:216236601 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2358C>T (p.Tyr786=) single nucleotide variant not provided [RCV003104557] Chr2:215408368 [GRCh38]
Chr2:216273091 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) single nucleotide variant FN1-related condition [RCV003913360]|Glomerulopathy with fibronectin deposits 2 [RCV002496066]|not provided [RCV001762880] Chr2:215376624 [GRCh38]
Chr2:216241347 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6922G>A (p.Val2308Ile) single nucleotide variant Inborn genetic diseases [RCV003294608]|not provided [RCV003104515] Chr2:215367959 [GRCh38]
Chr2:216232682 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.261C>G (p.Cys87Trp) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV002240143]|not provided [RCV003698884] Chr2:215434712 [GRCh38]
Chr2:216299435 [GRCh37]
Chr2:2q35		 pathogenic
NM_212482.4(FN1):c.7268A>G (p.Asn2423Ser) single nucleotide variant Inborn genetic diseases [RCV003163883]|not provided [RCV001771574] Chr2:215362063 [GRCh38]
Chr2:216226786 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6247+32G>A single nucleotide variant not provided [RCV001754333] Chr2:215373290 [GRCh38]
Chr2:216238013 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6908T>C (p.Val2303Ala) single nucleotide variant not provided [RCV001754392] Chr2:215367973 [GRCh38]
Chr2:216232696 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.697G>C (p.Asp233His) single nucleotide variant not provided [RCV001773398] Chr2:215428327 [GRCh38]
Chr2:216293050 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.278-229T>C single nucleotide variant not provided [RCV001797260] Chr2:215433690 [GRCh38]
Chr2:216298413 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.582del (p.Tyr195fs) deletion not provided [RCV001758511] Chr2:215430818 [GRCh38]
Chr2:216295541 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1888T>G (p.Trp630Gly) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001809307] Chr2:215414890 [GRCh38]
Chr2:216279613 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5237C>T (p.Pro1746Leu) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001809308]|not provided [RCV001869604] Chr2:215381008 [GRCh38]
Chr2:216245731 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2150C>G (p.Pro717Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002492183]|not provided [RCV001964307] Chr2:215409712 [GRCh38]
Chr2:216274435 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.2702_2703delinsTT (p.Thr901Ile) indel not provided [RCV001929877] Chr2:215407137..215407138 [GRCh38]
Chr2:216271860..216271861 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4586C>G (p.Pro1529Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002484791]|Inborn genetic diseases [RCV003170151]|not provided [RCV002004885] Chr2:215386715 [GRCh38]
Chr2:216251438 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2506G>C (p.Ala836Pro) single nucleotide variant not provided [RCV001947277] Chr2:215408120 [GRCh38]
Chr2:216272843 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6002G>A (p.Arg2001His) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482727]|not provided [RCV001896382] Chr2:215375369 [GRCh38]
Chr2:216240092 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3447C>T (p.Tyr1149=) single nucleotide variant not provided [RCV001949582] Chr2:215397750 [GRCh38]
Chr2:216262473 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6467C>T (p.Thr2156Met) single nucleotide variant not provided [RCV001988157] Chr2:215372156 [GRCh38]
Chr2:216236879 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1544G>A (p.Arg515Gln) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479631]|not provided [RCV001971275] Chr2:215422093 [GRCh38]
Chr2:216286816 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3968A>G (p.Tyr1323Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479527]|not provided [RCV001950266] Chr2:215393032 [GRCh38]
Chr2:216257755 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7009G>A (p.Asp2337Asn) single nucleotide variant not provided [RCV002004446] Chr2:215367872 [GRCh38]
Chr2:216232595 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1674C>T (p.Val558=) single nucleotide variant not provided [RCV001892000] Chr2:215420674 [GRCh38]
Chr2:216285397 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3083G>A (p.Arg1028Gln) single nucleotide variant not provided [RCV001984020] Chr2:215404559 [GRCh38]
Chr2:216269282 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5139G>T (p.Gln1713His) single nucleotide variant not provided [RCV001914105] Chr2:215382237 [GRCh38]
Chr2:216246960 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7402G>A (p.Val2468Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002490041]|not provided [RCV001874444] Chr2:215361587 [GRCh38]
Chr2:216226310 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2075T>A (p.Val692Glu) single nucleotide variant not provided [RCV001950689] Chr2:215409981 [GRCh38]
Chr2:216274704 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5369_5370del (p.Thr1790fs) microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002482553]|not provided [RCV001947528] Chr2:215380875..215380876 [GRCh38]
Chr2:216245598..216245599 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7069C>T (p.Arg2357Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479675]|Inborn genetic diseases [RCV002592563]|not provided [RCV002006267] Chr2:215365580 [GRCh38]
Chr2:216230303 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2938G>A (p.Val980Met) single nucleotide variant not provided [RCV002022079] Chr2:215406286 [GRCh38]
Chr2:216271009 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7160ATG[2] (p.Asp2389del) microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002507751]|not provided [RCV002005590] Chr2:215364962..215364964 [GRCh38]
Chr2:216229685..216229687 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6220G>A (p.Glu2074Lys) single nucleotide variant not provided [RCV001927411] Chr2:215373349 [GRCh38]
Chr2:216238072 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2879C>G (p.Thr960Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002490282]|Inborn genetic diseases [RCV002557678]|not provided [RCV001945195] Chr2:215406345 [GRCh38]
Chr2:216271068 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.7252_7266dup (p.Gly2418_Asp2422dup) duplication not provided [RCV001969167] Chr2:215362064..215362065 [GRCh38]
Chr2:216226787..216226788 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7070G>A (p.Arg2357His) single nucleotide variant not provided [RCV002002961] Chr2:215365579 [GRCh38]
Chr2:216230302 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4064A>G (p.Gln1355Arg) single nucleotide variant not provided [RCV001968265] Chr2:215392936 [GRCh38]
Chr2:216257659 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2848C>T (p.His950Tyr) single nucleotide variant not provided [RCV002040752] Chr2:215406376 [GRCh38]
Chr2:216271099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4654C>T (p.Pro1552Ser) single nucleotide variant not provided [RCV001966636] Chr2:215384935 [GRCh38]
Chr2:216249658 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.1350G>C (p.Gln450His) single nucleotide variant not provided [RCV001963802] Chr2:215423393 [GRCh38]
Chr2:216288116 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3945T>G (p.Phe1315Leu) single nucleotide variant Inborn genetic diseases [RCV002560499]|not provided [RCV001926777] Chr2:215393055 [GRCh38]
Chr2:216257778 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7379T>C (p.Ile2460Thr) single nucleotide variant Nephrotic syndrome [RCV001849884] Chr2:215361610 [GRCh38]
Chr2:216226333 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.1808A>G (p.Gln603Arg) single nucleotide variant not provided [RCV002022651] Chr2:215419253 [GRCh38]
Chr2:216283976 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1263C>G (p.His421Gln) single nucleotide variant not provided [RCV002006374] Chr2:215423480 [GRCh38]
Chr2:216288203 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.604G>A (p.Glu202Lys) single nucleotide variant not provided [RCV002041756] Chr2:215430796 [GRCh38]
Chr2:216295519 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2122+4T>C single nucleotide variant not provided [RCV002021332] Chr2:215409930 [GRCh38]
Chr2:216274653 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3199G>A (p.Val1067Met) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479505]|not provided [RCV001987225] Chr2:215404443 [GRCh38]
Chr2:216269166 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.4343-9G>T single nucleotide variant not provided [RCV002044260] Chr2:215386967 [GRCh38]
Chr2:216251690 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4167C>G (p.Phe1389Leu) single nucleotide variant not provided [RCV001894070] Chr2:215391717 [GRCh38]
Chr2:216256440 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.749A>C (p.Asp250Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482414]|not provided [RCV002041828] Chr2:215428275 [GRCh38]
Chr2:216292998 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2428+4C>T single nucleotide variant not provided [RCV001964576] Chr2:215408294 [GRCh38]
Chr2:216273017 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4141C>T (p.Pro1381Ser) single nucleotide variant not provided [RCV002039578] Chr2:215391743 [GRCh38]
Chr2:216256466 [GRCh37]
Chr2:2q35		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.5978-9_5978-8del deletion not provided [RCV002006969] Chr2:215375401..215375402 [GRCh38]
Chr2:216240124..216240125 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5659A>G (p.Lys1887Glu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479704]|not provided [RCV001986856] Chr2:215378226 [GRCh38]
Chr2:216242949 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6431A>G (p.Glu2144Gly) single nucleotide variant not provided [RCV002022223] Chr2:215372192 [GRCh38]
Chr2:216236915 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2081G>A (p.Arg694His) single nucleotide variant not provided [RCV002039854] Chr2:215409975 [GRCh38]
Chr2:216274698 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3109G>C (p.Gly1037Arg) single nucleotide variant not provided [RCV001870892] Chr2:215404533 [GRCh38]
Chr2:216269256 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NM_212482.4(FN1):c.7249C>T (p.Arg2417Trp) single nucleotide variant not provided [RCV002004869] Chr2:215364881 [GRCh38]
Chr2:216229604 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.907C>T (p.Pro303Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482586]|not provided [RCV001908072] Chr2:215425223 [GRCh38]
Chr2:216289946 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2834A>G (p.Asn945Ser) single nucleotide variant not provided [RCV002042570] Chr2:215406390 [GRCh38]
Chr2:216271113 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5587C>G (p.Pro1863Ala) single nucleotide variant not provided [RCV001872354] Chr2:215379165 [GRCh38]
Chr2:216243888 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1676-1G>C single nucleotide variant not provided [RCV001891368] Chr2:215419386 [GRCh38]
Chr2:216284109 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002490248]|Inborn genetic diseases [RCV002555728]|not provided [RCV001910048] Chr2:215414907 [GRCh38]
Chr2:216279630 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.864T>G (p.Asp288Glu) single nucleotide variant not provided [RCV001910866] Chr2:215425266 [GRCh38]
Chr2:216289989 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5164+3A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002484445]|not provided [RCV001910198] Chr2:215382209 [GRCh38]
Chr2:216246932 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6066C>T (p.Thr2022=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494077]|not provided [RCV002185001] Chr2:215375305 [GRCh38]
Chr2:216240028 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.833C>G (p.Thr278Ser) single nucleotide variant X-linked Alport syndrome [RCV001838830]|not provided [RCV001869848] Chr2:215428191 [GRCh38]
Chr2:216292914 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4388A>G (p.Asn1463Ser) single nucleotide variant not provided [RCV001943897] Chr2:215386913 [GRCh38]
Chr2:216251636 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4858G>A (p.Ala1620Thr) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002478151]|not provided [RCV001961828] Chr2:215384056 [GRCh38]
Chr2:216248779 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3697A>C (p.Thr1233Pro) single nucleotide variant not provided [RCV002038076] Chr2:215394627 [GRCh38]
Chr2:216259350 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7169G>C (p.Gly2390Ala) single nucleotide variant not provided [RCV001867250] Chr2:215364961 [GRCh38]
Chr2:216229684 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5881A>G (p.Ile1961Val) single nucleotide variant not provided [RCV002038915] Chr2:215376504 [GRCh38]
Chr2:216241227 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4795C>A (p.Leu1599Ile) single nucleotide variant not provided [RCV001944686] Chr2:215384119 [GRCh38]
Chr2:216248842 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3386G>A (p.Arg1129Gln) single nucleotide variant not provided [RCV002048163] Chr2:215397811 [GRCh38]
Chr2:216262534 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4613-11_4613-10insC insertion not provided [RCV002036877] Chr2:215384986..215384987 [GRCh38]
Chr2:216249709..216249710 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5524G>A (p.Gly1842Arg) single nucleotide variant not provided [RCV001884040] Chr2:215379228 [GRCh38]
Chr2:216243951 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.790G>A (p.Gly264Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002484644]|not provided [RCV001944241] Chr2:215428234 [GRCh38]
Chr2:216292957 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4235A>G (p.Asn1412Ser) single nucleotide variant not provided [RCV001991331] Chr2:215391649 [GRCh38]
Chr2:216256372 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu) single nucleotide variant FN1-related condition [RCV003407973]|not provided [RCV001944101] Chr2:215375324 [GRCh38]
Chr2:216240047 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.1715T>C (p.Ile572Thr) single nucleotide variant not provided [RCV001996419] Chr2:215419346 [GRCh38]
Chr2:216284069 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.4265G>A (p.Gly1422Asp) single nucleotide variant not provided [RCV001899756] Chr2:215388289 [GRCh38]
Chr2:216253012 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4576G>A (p.Glu1526Lys) single nucleotide variant not provided [RCV001979190] Chr2:215386725 [GRCh38]
Chr2:216251448 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4060C>A (p.Gln1354Lys) single nucleotide variant not provided [RCV002017425] Chr2:215392940 [GRCh38]
Chr2:216257663 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.872C>A (p.Ala291Glu) single nucleotide variant not provided [RCV001886451] Chr2:215425258 [GRCh38]
Chr2:216289981 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4595T>C (p.Ile1532Thr) single nucleotide variant not provided [RCV001994934] Chr2:215386706 [GRCh38]
Chr2:216251429 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.712A>T (p.Thr238Ser) single nucleotide variant not provided [RCV001962772] Chr2:215428312 [GRCh38]
Chr2:216293035 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002507618]|not provided [RCV001982000] Chr2:215391667 [GRCh38]
Chr2:216256390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4418G>A (p.Arg1473Gln) single nucleotide variant not provided [RCV001973841] Chr2:215386883 [GRCh38]
Chr2:216251606 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7034A>G (p.Asn2345Ser) single nucleotide variant not provided [RCV001918885] Chr2:215365615 [GRCh38]
Chr2:216230338 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5141C>G (p.Pro1714Arg) single nucleotide variant not provided [RCV001957007] Chr2:215382235 [GRCh38]
Chr2:216246958 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5035A>G (p.Lys1679Glu) single nucleotide variant not provided [RCV001870399] Chr2:215383343 [GRCh38]
Chr2:216248066 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2425A>G (p.Thr809Ala) single nucleotide variant not provided [RCV001990055] Chr2:215408301 [GRCh38]
Chr2:216273024 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4153_4155del (p.Asp1385del) deletion not provided [RCV001880568] Chr2:215391729..215391731 [GRCh38]
Chr2:216256452..216256454 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7016C>G (p.Ser2339Cys) single nucleotide variant not provided [RCV002028419] Chr2:215367865 [GRCh38]
Chr2:216232588 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4582A>G (p.Ser1528Gly) single nucleotide variant not provided [RCV001931647] Chr2:215386719 [GRCh38]
Chr2:216251442 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6157+4T>C single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002490079]|not provided [RCV001879234] Chr2:215375210 [GRCh38]
Chr2:216239933 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1033A>G (p.Thr345Ala) single nucleotide variant not provided [RCV001878019] Chr2:215425097 [GRCh38]
Chr2:216289820 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.755G>A (p.Arg252Gln) single nucleotide variant not provided [RCV001876892] Chr2:215428269 [GRCh38]
Chr2:216292992 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.414A>G (p.Ala138=) single nucleotide variant not provided [RCV001921100] Chr2:215433325 [GRCh38]
Chr2:216298048 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1481T>C (p.Met494Thr) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482692]|not provided [RCV001875740] Chr2:215422156 [GRCh38]
Chr2:216286879 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2761G>A (p.Val921Met) single nucleotide variant not provided [RCV001976514] Chr2:215406463 [GRCh38]
Chr2:216271186 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2350C>T (p.Arg784Ter) single nucleotide variant not provided [RCV001951638] Chr2:215408376 [GRCh38]
Chr2:216273099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482543]|not provided [RCV001932457] Chr2:215393134 [GRCh38]
Chr2:216257857 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4144C>T (p.Pro1382Ser) single nucleotide variant not provided [RCV001933694] Chr2:215391740 [GRCh38]
Chr2:216256463 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4918C>G (p.Gln1640Glu) single nucleotide variant not provided [RCV002017105] Chr2:215383460 [GRCh38]
Chr2:216248183 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6655G>A (p.Asp2219Asn) single nucleotide variant not provided [RCV001953166] Chr2:215371968 [GRCh38]
Chr2:216236691 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.685+5G>A single nucleotide variant not provided [RCV001998308] Chr2:215430710 [GRCh38]
Chr2:216295433 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3143T>C (p.Val1048Ala) single nucleotide variant not provided [RCV001991299] Chr2:215404499 [GRCh38]
Chr2:216269222 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4558G>A (p.Val1520Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002478347]|not provided [RCV001907017] Chr2:215386743 [GRCh38]
Chr2:216251466 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3690C>A (p.Ser1230Arg) single nucleotide variant not provided [RCV001973099] Chr2:215394634 [GRCh38]
Chr2:216259357 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.746A>C (p.Lys249Thr) single nucleotide variant not provided [RCV001956879] Chr2:215428278 [GRCh38]
Chr2:216293001 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4520C>T (p.Thr1507Ile) single nucleotide variant not provided [RCV001978831] Chr2:215386781 [GRCh38]
Chr2:216251504 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6566T>C (p.Leu2189Pro) single nucleotide variant not provided [RCV002035689] Chr2:215372057 [GRCh38]
Chr2:216236780 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486614]|Inborn genetic diseases [RCV002642068]|not provided [RCV001999366] Chr2:215406507 [GRCh38]
Chr2:216271230 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7004G>A (p.Arg2335Lys) single nucleotide variant not provided [RCV001880713] Chr2:215367877 [GRCh38]
Chr2:216232600 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.592G>A (p.Gly198Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002507797]|Inborn genetic diseases [RCV002548752]|not provided [RCV002016678] Chr2:215430808 [GRCh38]
Chr2:216295531 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5624T>A (p.Val1875Glu) single nucleotide variant not provided [RCV001996659] Chr2:215378261 [GRCh38]
Chr2:216242984 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3971C>T (p.Thr1324Ile) single nucleotide variant not provided [RCV002013627] Chr2:215393029 [GRCh38]
Chr2:216257752 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4649C>A (p.Ala1550Glu) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002503422]|not provided [RCV001905459] Chr2:215384940 [GRCh38]
Chr2:216249663 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6815A>G (p.His2272Arg) single nucleotide variant not provided [RCV001999087] Chr2:215370332 [GRCh38]
Chr2:216235055 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4879A>G (p.Ile1627Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002497917]|not provided [RCV001995242] Chr2:215384035 [GRCh38]
Chr2:216248758 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.692G>A (p.Cys231Tyr) single nucleotide variant not provided [RCV002034022] Chr2:215428332 [GRCh38]
Chr2:216293055 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6857A>G (p.Asn2286Ser) single nucleotide variant not provided [RCV001958275] Chr2:215368024 [GRCh38]
Chr2:216232747 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5818G>A (p.Val1940Ile) single nucleotide variant not provided [RCV001958319] Chr2:215376567 [GRCh38]
Chr2:216241290 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6784A>G (p.Ile2262Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486626]|not provided [RCV002016010] Chr2:215370363 [GRCh38]
Chr2:216235086 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6305T>C (p.Leu2102Ser) single nucleotide variant not provided [RCV001900265] Chr2:215372318 [GRCh38]
Chr2:216237041 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5174G>A (p.Arg1725His) single nucleotide variant not provided [RCV001993468] Chr2:215381071 [GRCh38]
Chr2:216245794 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5482A>G (p.Ser1828Gly) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002503550]|not provided [RCV001901587] Chr2:215379270 [GRCh38]
Chr2:216243993 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.665G>A (p.Arg222His) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002506922]|not provided [RCV001867664] Chr2:215430735 [GRCh38]
Chr2:216295458 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.587T>A (p.Val196Glu) single nucleotide variant not provided [RCV001878883] Chr2:215430813 [GRCh38]
Chr2:216295536 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3944T>C (p.Phe1315Ser) single nucleotide variant not provided [RCV001905344] Chr2:215393056 [GRCh38]
Chr2:216257779 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6052C>T (p.Arg2018Cys) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479766]|not provided [RCV002017880] Chr2:215375319 [GRCh38]
Chr2:216240042 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.2135C>T (p.Thr712Ile) single nucleotide variant not provided [RCV001959752] Chr2:215409727 [GRCh38]
Chr2:216274450 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6224C>T (p.Pro2075Leu) single nucleotide variant not provided [RCV001936925] Chr2:215373345 [GRCh38]
Chr2:216238068 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5351G>T (p.Arg1784Ile) single nucleotide variant not provided [RCV002019468] Chr2:215380894 [GRCh38]
Chr2:216245617 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6284A>G (p.Asn2095Ser) single nucleotide variant not provided [RCV001925417] Chr2:215372339 [GRCh38]
Chr2:216237062 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3149A>C (p.Lys1050Thr) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002507774]|Inborn genetic diseases [RCV002642084]|not provided [RCV002010541] Chr2:215404493 [GRCh38]
Chr2:216269216 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.862G>A (p.Asp288Asn) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486683]|not provided [RCV002011410] Chr2:215425268 [GRCh38]
Chr2:216289991 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002498023]|not provided [RCV002028963] Chr2:215375703 [GRCh38]
Chr2:216240426 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7366G>A (p.Val2456Ile) single nucleotide variant not provided [RCV002028231] Chr2:215361623 [GRCh38]
Chr2:216226346 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3415G>A (p.Val1139Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002482565]|not provided [RCV001876845] Chr2:215397782 [GRCh38]
Chr2:216262505 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1970C>T (p.Ala657Val) single nucleotide variant not provided [RCV001979290] Chr2:215410086 [GRCh38]
Chr2:216274809 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002489989]|not provided [RCV001904480] Chr2:215384113 [GRCh38]
Chr2:216248836 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6503C>T (p.Pro2168Leu) single nucleotide variant not provided [RCV001921633] Chr2:215372120 [GRCh38]
Chr2:216236843 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2244G>A (p.Ser748=) single nucleotide variant not provided [RCV001951543] Chr2:215409618 [GRCh38]
Chr2:216274341 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.352T>G (p.Ser118Ala) single nucleotide variant FN1-related condition [RCV003892910]|not provided [RCV001879742] Chr2:215433387 [GRCh38]
Chr2:216298110 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1614G>A (p.Gly538=) single nucleotide variant not provided [RCV002075309] Chr2:215420734 [GRCh38]
Chr2:216285457 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494353]|not provided [RCV002088974] Chr2:215404455 [GRCh38]
Chr2:216269178 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7363-19C>T single nucleotide variant not provided [RCV002105079] Chr2:215361645 [GRCh38]
Chr2:216226368 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3150G>A (p.Lys1050=) single nucleotide variant not provided [RCV002087356] Chr2:215404492 [GRCh38]
Chr2:216269215 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4767G>C (p.Gly1589=) single nucleotide variant not provided [RCV002148579] Chr2:215384147 [GRCh38]
Chr2:216248870 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.471A>G (p.Pro157=) single nucleotide variant not provided [RCV002110107] Chr2:215431909 [GRCh38]
Chr2:216296632 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1216+13A>G single nucleotide variant not provided [RCV002126687] Chr2:215424133 [GRCh38]
Chr2:216288856 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2967G>C (p.Leu989=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002498214]|not provided [RCV002205063] Chr2:215406257 [GRCh38]
Chr2:216270980 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5920C>T (p.Leu1974=) single nucleotide variant not provided [RCV002166823] Chr2:215375686 [GRCh38]
Chr2:216240409 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1217-11G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500129]|not provided [RCV002086619] Chr2:215423537 [GRCh38]
Chr2:216288260 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6090G>A (p.Lys2030=) single nucleotide variant not provided [RCV002126538] Chr2:215375281 [GRCh38]
Chr2:216240004 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1394-12A>G single nucleotide variant not provided [RCV002206837] Chr2:215422255 [GRCh38]
Chr2:216286978 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3518-4A>G single nucleotide variant not provided [RCV002192246] Chr2:215397227 [GRCh38]
Chr2:216261950 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2112A>G (p.Thr704=) single nucleotide variant not provided [RCV002223630] Chr2:215409944 [GRCh38]
Chr2:216274667 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.4114G>A (p.Asp1372Asn) single nucleotide variant not provided [RCV002108136] Chr2:215391770 [GRCh38]
Chr2:216256493 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3254-17T>C single nucleotide variant not provided [RCV002125491] Chr2:215399368 [GRCh38]
Chr2:216264091 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2131G>A (p.Val711Met) single nucleotide variant Inborn genetic diseases [RCV002560794]|not provided [RCV002188009] Chr2:215409731 [GRCh38]
Chr2:216274454 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.7018+14T>C single nucleotide variant not provided [RCV002186340] Chr2:215367849 [GRCh38]
Chr2:216232572 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.844+14C>T single nucleotide variant not provided [RCV002207229] Chr2:215428166 [GRCh38]
Chr2:216292889 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6853+13G>A single nucleotide variant not provided [RCV002084583] Chr2:215370281 [GRCh38]
Chr2:216235004 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6336T>C (p.Pro2112=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500044]|not provided [RCV002124618] Chr2:215372287 [GRCh38]
Chr2:216237010 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.2714-7C>T single nucleotide variant not provided [RCV002125928] Chr2:215406517 [GRCh38]
Chr2:216271240 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.416-16G>A single nucleotide variant not provided [RCV002106534] Chr2:215431980 [GRCh38]
Chr2:216296703 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2518+18C>A single nucleotide variant not provided [RCV002128711] Chr2:215408090 [GRCh38]
Chr2:216272813 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1343C>G (p.Thr448Ser) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002086736] Chr2:215423400 [GRCh38]
Chr2:216288123 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3006C>T (p.Asn1002=) single nucleotide variant not provided [RCV002108575] Chr2:215404636 [GRCh38]
Chr2:216269359 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5623-18A>G single nucleotide variant not provided [RCV002087596] Chr2:215378280 [GRCh38]
Chr2:216243003 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5127C>T (p.Ser1709=) single nucleotide variant not provided [RCV002091615] Chr2:215382249 [GRCh38]
Chr2:216246972 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.278-18C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500148]|not provided [RCV002106178] Chr2:215433479 [GRCh38]
Chr2:216298202 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6714+7_6714+10del microsatellite not provided [RCV002085540] Chr2:215371899..215371902 [GRCh38]
Chr2:216236622..216236625 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5051-9C>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002498102]|not provided [RCV002076698] Chr2:215382334 [GRCh38]
Chr2:216247057 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3909T>G (p.Val1303=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500256]|not provided [RCV002133908] Chr2:215393091 [GRCh38]
Chr2:216257814 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.375C>T (p.Cys125=) single nucleotide variant not provided [RCV002135130] Chr2:215433364 [GRCh38]
Chr2:216298087 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1216+16G>A single nucleotide variant not provided [RCV002080162] Chr2:215424130 [GRCh38]
Chr2:216288853 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2299+16C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494446]|not provided [RCV002134418] Chr2:215409547 [GRCh38]
Chr2:216274270 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002498322]|not provided [RCV002111164] Chr2:215408313 [GRCh38]
Chr2:216273036 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6459G>A (p.Pro2153=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002479893]|not provided [RCV002087978] Chr2:215372164 [GRCh38]
Chr2:216236887 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5943T>C (p.Ala1981=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002507953]|not provided [RCV002097553] Chr2:215375663 [GRCh38]
Chr2:216240386 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5907C>T (p.Asp1969=) single nucleotide variant not provided [RCV002151766] Chr2:215375699 [GRCh38]
Chr2:216240422 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2896G>A (p.Gly966Arg) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002272565]|not provided [RCV002113484] Chr2:215406328 [GRCh38]
Chr2:216271051 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5164+15C>A single nucleotide variant not provided [RCV002097374] Chr2:215382197 [GRCh38]
Chr2:216246920 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6576C>T (p.His2192=) single nucleotide variant not provided [RCV002093735] Chr2:215372047 [GRCh38]
Chr2:216236770 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3804C>T (p.Pro1268=) single nucleotide variant FN1-related condition [RCV003903330]|not provided [RCV002104807] Chr2:215393196 [GRCh38]
Chr2:216257919 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3198C>T (p.Leu1066=) single nucleotide variant not provided [RCV002085078] Chr2:215404444 [GRCh38]
Chr2:216269167 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7144+12C>T single nucleotide variant not provided [RCV002128355] Chr2:215365493 [GRCh38]
Chr2:216230216 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2007A>G (p.Lys669=) single nucleotide variant not provided [RCV002087421] Chr2:215410049 [GRCh38]
Chr2:216274772 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.247C>A (p.Arg83=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499939]|not provided [RCV002116931] Chr2:215434726 [GRCh38]
Chr2:216299449 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4070-11T>C single nucleotide variant not provided [RCV002087573] Chr2:215391825 [GRCh38]
Chr2:216256548 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5164+15C>G single nucleotide variant not provided [RCV002089037] Chr2:215382197 [GRCh38]
Chr2:216246920 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2713+20A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486824]|not provided [RCV002209177] Chr2:215407107 [GRCh38]
Chr2:216271830 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5164+14G>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494461]|not provided [RCV002150923] Chr2:215382198 [GRCh38]
Chr2:216246921 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.4842C>T (p.Gly1614=) single nucleotide variant not provided [RCV002134150] Chr2:215384072 [GRCh38]
Chr2:216248795 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.844+13A>G single nucleotide variant not provided [RCV002080118] Chr2:215428167 [GRCh38]
Chr2:216292890 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6921C>T (p.Ala2307=) single nucleotide variant not provided [RCV002116229] Chr2:215367960 [GRCh38]
Chr2:216232683 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5977+7A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002486886]|not provided [RCV002107994] Chr2:215375622 [GRCh38]
Chr2:216240345 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2805C>T (p.Thr935=) single nucleotide variant FN1-related condition [RCV003960937]|not provided [RCV002206628] Chr2:215406419 [GRCh38]
Chr2:216271142 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.278-14C>G single nucleotide variant not provided [RCV002074977] Chr2:215433475 [GRCh38]
Chr2:216298198 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6639A>G (p.Ser2213=) single nucleotide variant not provided [RCV002133808] Chr2:215371984 [GRCh38]
Chr2:216236707 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6158-13A>G single nucleotide variant not provided [RCV002096813] Chr2:215373424 [GRCh38]
Chr2:216238147 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3605-18C>T single nucleotide variant not provided [RCV002153053] Chr2:215394737 [GRCh38]
Chr2:216259460 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6507G>A (p.Pro2169=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494178]|not provided [RCV002086131] Chr2:215372116 [GRCh38]
Chr2:216236839 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-13C>T single nucleotide variant not provided [RCV002116583] Chr2:215384989 [GRCh38]
Chr2:216249712 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7295G>C (p.Ser2432Thr) single nucleotide variant FN1-related condition [RCV003913778]|not provided [RCV002079687] Chr2:215362036 [GRCh38]
Chr2:216226759 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5511T>C (p.Asn1837=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500105]|not provided [RCV002173829] Chr2:215379241 [GRCh38]
Chr2:216243964 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2145G>A (p.Thr715=) single nucleotide variant not provided [RCV002195125] Chr2:215409717 [GRCh38]
Chr2:216274440 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7116C>T (p.Asn2372=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002494089]|not provided [RCV002185451] Chr2:215365533 [GRCh38]
Chr2:216230256 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1014C>T (p.Asn338=) single nucleotide variant not provided [RCV002094426] Chr2:215425116 [GRCh38]
Chr2:216289839 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1942-38GT[14] microsatellite Glomerulopathy with fibronectin deposits 2 [RCV002505821]|not provided [RCV002151419] Chr2:215410130..215410131 [GRCh38]
Chr2:216274853..216274854 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.2031C>T (p.Tyr677=) single nucleotide variant not provided [RCV002150342] Chr2:215410025 [GRCh38]
Chr2:216274748 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2187C>T (p.Thr729=) single nucleotide variant not provided [RCV002123006] Chr2:215409675 [GRCh38]
Chr2:216274398 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1521A>G (p.Thr507=) single nucleotide variant not provided [RCV002153908] Chr2:215422116 [GRCh38]
Chr2:216286839 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4257C>T (p.Leu1419=) single nucleotide variant FN1-related condition [RCV003923463]|not provided [RCV002179521] Chr2:215388297 [GRCh38]
Chr2:216253020 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5434+18C>A single nucleotide variant not provided [RCV002137841] Chr2:215380793 [GRCh38]
Chr2:216245516 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5559C>T (p.Thr1853=) single nucleotide variant not provided [RCV002158322] Chr2:215379193 [GRCh38]
Chr2:216243916 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7251+7C>G single nucleotide variant not provided [RCV002082109] Chr2:215364872 [GRCh38]
Chr2:216229595 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5274G>A (p.Ser1758=) single nucleotide variant not provided [RCV002200648] Chr2:215380971 [GRCh38]
Chr2:216245694 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1371G>A (p.Lys457=) single nucleotide variant not provided [RCV002101341] Chr2:215423372 [GRCh38]
Chr2:216288095 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3604+16A>G single nucleotide variant not provided [RCV002140357] Chr2:215397121 [GRCh38]
Chr2:216261844 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4821C>T (p.Ile1607=) single nucleotide variant not provided [RCV002160946] Chr2:215384093 [GRCh38]
Chr2:216248816 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6048G>A (p.Pro2016=) single nucleotide variant not provided [RCV002122461] Chr2:215375323 [GRCh38]
Chr2:216240046 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3807A>G (p.Gln1269=) single nucleotide variant not provided [RCV002101363] Chr2:215393193 [GRCh38]
Chr2:216257916 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.278-5C>T single nucleotide variant not provided [RCV002140673] Chr2:215433466 [GRCh38]
Chr2:216298189 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6012C>T (p.Ala2004=) single nucleotide variant not provided [RCV002164749] Chr2:215375359 [GRCh38]
Chr2:216240082 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1216+19A>G single nucleotide variant not provided [RCV002081410] Chr2:215424127 [GRCh38]
Chr2:216288850 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3605-4C>G single nucleotide variant not provided [RCV002081428] Chr2:215394723 [GRCh38]
Chr2:216259446 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3914C>A (p.Ala1305Glu) single nucleotide variant not provided [RCV002121589] Chr2:215393086 [GRCh38]
Chr2:216257809 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5496G>A (p.Gln1832=) single nucleotide variant not provided [RCV002083574] Chr2:215379256 [GRCh38]
Chr2:216243979 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6715-12C>G single nucleotide variant not provided [RCV002163784] Chr2:215370444 [GRCh38]
Chr2:216235167 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.548-6C>T single nucleotide variant not provided [RCV002118237] Chr2:215430858 [GRCh38]
Chr2:216295581 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.148+16G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002508089]|not provided [RCV002139819] Chr2:215435639 [GRCh38]
Chr2:216300362 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1942-38GT[15] microsatellite not provided [RCV002124080] Chr2:215410130..215410131 [GRCh38]
Chr2:216274853..216274854 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6261A>G (p.Gln2087=) single nucleotide variant not provided [RCV002200437] Chr2:215372362 [GRCh38]
Chr2:216237085 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.548-10T>C single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002507925]|not provided [RCV002219300] Chr2:215430862 [GRCh38]
Chr2:216295585 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4357A>G (p.Thr1453Ala) single nucleotide variant not provided [RCV002120388] Chr2:215386944 [GRCh38]
Chr2:216251667 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1884C>A (p.Ile628=) single nucleotide variant not provided [RCV002198965] Chr2:215414894 [GRCh38]
Chr2:216279617 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4011C>T (p.Ser1337=) single nucleotide variant not provided [RCV002101204] Chr2:215392989 [GRCh38]
Chr2:216257712 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7363-20del deletion Glomerulopathy with fibronectin deposits 2 [RCV002486871]|not provided [RCV002103482] Chr2:215361646 [GRCh38]
Chr2:216226369 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.5623-13C>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002500013]|not provided [RCV002122665] Chr2:215378275 [GRCh38]
Chr2:216242998 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6158-7C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002499956]|not provided [RCV002103590] Chr2:215373418 [GRCh38]
Chr2:216238141 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7020A>G (p.Arg2340=) single nucleotide variant not provided [RCV002121734] Chr2:215365629 [GRCh38]
Chr2:216230352 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2821G>A (p.Val941Met) single nucleotide variant Inborn genetic diseases [RCV003289460]|not provided [RCV002135949] Chr2:215406403 [GRCh38]
Chr2:216271126 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.7131C>T (p.Phe2377=) single nucleotide variant not provided [RCV002121817] Chr2:215365518 [GRCh38]
Chr2:216230241 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6582G>A (p.Pro2194=) single nucleotide variant not provided [RCV002183022] Chr2:215372041 [GRCh38]
Chr2:216236764 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1782T>C (p.Ile594=) single nucleotide variant FN1-related condition [RCV003971090]|not provided [RCV002136163] Chr2:215419279 [GRCh38]
Chr2:216284002 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.7018+17T>C single nucleotide variant not provided [RCV002082214] Chr2:215367846 [GRCh38]
Chr2:216232569 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV002138217] Chr2:215423444 [GRCh38]
Chr2:216288167 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5690G>T (p.Gly1897Val) single nucleotide variant Inborn genetic diseases [RCV003365690]|not provided [RCV002100838] Chr2:215378195 [GRCh38]
Chr2:216242918 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.2984C>T (p.Thr995Ile) single nucleotide variant not provided [RCV002217552] Chr2:215406240 [GRCh38]
Chr2:216270963 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.416-17C>T single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002505875]|not provided [RCV002198834] Chr2:215431981 [GRCh38]
Chr2:216296704 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.3349-10C>T single nucleotide variant not provided [RCV002120877] Chr2:215397858 [GRCh38]
Chr2:216262581 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2122+10C>T single nucleotide variant not provided [RCV002136758] Chr2:215409924 [GRCh38]
Chr2:216274647 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2091C>T (p.Phe697=) single nucleotide variant not provided [RCV002158872] Chr2:215409965 [GRCh38]
Chr2:216274688 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1676-9G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002508095]|not provided [RCV002142916] Chr2:215419394 [GRCh38]
Chr2:216284117 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.6340G>A (p.Val2114Ile) single nucleotide variant not provided [RCV002142992] Chr2:215372283 [GRCh38]
Chr2:216237006 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.573T>C (p.Ala191=) single nucleotide variant not provided [RCV002197702] Chr2:215430827 [GRCh38]
Chr2:216295550 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1185C>T (p.Asp395=) single nucleotide variant not provided [RCV002216446] Chr2:215424177 [GRCh38]
Chr2:216288900 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4296C>A (p.Val1432=) single nucleotide variant not provided [RCV002135689] Chr2:215388258 [GRCh38]
Chr2:216252981 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6887C>T (p.Ser2296Leu) single nucleotide variant not provided [RCV002157856] Chr2:215367994 [GRCh38]
Chr2:216232717 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.1037-8G>A single nucleotide variant not provided [RCV002143470] Chr2:215424333 [GRCh38]
Chr2:216289056 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3532A>G (p.Thr1178Ala) single nucleotide variant not provided [RCV002118150] Chr2:215397209 [GRCh38]
Chr2:216261932 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2061C>T (p.Tyr687=) single nucleotide variant not provided [RCV002098720] Chr2:215409995 [GRCh38]
Chr2:216274718 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3190G>A (p.Val1064Ile) single nucleotide variant not provided [RCV002203834] Chr2:215404452 [GRCh38]
Chr2:216269175 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6157+20G>A single nucleotide variant not provided [RCV002217704] Chr2:215375194 [GRCh38]
Chr2:216239917 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.277+17C>T single nucleotide variant not provided [RCV002182044] Chr2:215434679 [GRCh38]
Chr2:216299402 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4143C>T (p.Pro1381=) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002498212]|not provided [RCV002204691] Chr2:215391741 [GRCh38]
Chr2:216256464 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1002G>A (p.Thr334=) single nucleotide variant FN1-related condition [RCV003923662]|Glomerulopathy with fibronectin deposits 2 [RCV002494287]|not provided [RCV002136702] Chr2:215425128 [GRCh38]
Chr2:216289851 [GRCh37]
Chr2:2q35		 benign|likely benign
NM_212482.4(FN1):c.1820-16A>G single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002480980]|not provided [RCV002101628] Chr2:215414974 [GRCh38]
Chr2:216279697 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5622+12C>T single nucleotide variant not provided [RCV002161289] Chr2:215379118 [GRCh38]
Chr2:216243841 [GRCh37]
Chr2:2q35		 likely benign
NC_000002.11:g.(?_216226278)_(216300525_?)dup duplication not provided [RCV003114113] Chr2:216226278..216300525 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6458C>T (p.Pro2153Leu) single nucleotide variant not provided [RCV003112453] Chr2:215372165 [GRCh38]
Chr2:216236888 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6128G>A (p.Arg2043His) single nucleotide variant not provided [RCV003112477] Chr2:215375243 [GRCh38]
Chr2:216239966 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.575G>A (p.Gly192Glu) single nucleotide variant not provided [RCV003115960] Chr2:215430825 [GRCh38]
Chr2:216295548 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.340C>G (p.Arg114Gly) single nucleotide variant not specified [RCV003123563] Chr2:215433399 [GRCh38]
Chr2:216298122 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.74G>A (p.Gly25Glu) single nucleotide variant not provided [RCV003144077] Chr2:215435729 [GRCh38]
Chr2:216300452 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.6242A>C (p.Lys2081Thr) single nucleotide variant not provided [RCV003144078] Chr2:215373327 [GRCh38]
Chr2:216238050 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5413_5414del (p.Leu1805fs) deletion not provided [RCV003144079] Chr2:215380831..215380832 [GRCh38]
Chr2:216245554..216245555 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2059T>C (p.Tyr687His) single nucleotide variant not provided [RCV003231989] Chr2:215409997 [GRCh38]
Chr2:216274720 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3951C>T (p.Asp1317=) single nucleotide variant not provided [RCV002279097] Chr2:215393049 [GRCh38]
Chr2:216257772 [GRCh37]
Chr2:2q35		 conflicting interpretations of pathogenicity|uncertain significance
NM_212482.4(FN1):c.5920C>G (p.Leu1974Val) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002273232] Chr2:215375686 [GRCh38]
Chr2:216240409 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6281C>T (p.Pro2094Leu) single nucleotide variant See cases [RCV002275723] Chr2:215372342 [GRCh38]
Chr2:216237065 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.7144+1G>A single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002281673] Chr2:215365504 [GRCh38]
Chr2:216230227 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.7251+5G>T single nucleotide variant not provided [RCV002276277] Chr2:215364874 [GRCh38]
Chr2:216229597 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4729+113C>T single nucleotide variant not provided [RCV002286265] Chr2:215384747 [GRCh38]
Chr2:216249470 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6348C>A (p.His2116Gln) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002282761]|not provided [RCV003718472] Chr2:215372275 [GRCh38]
Chr2:216236998 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6547G>T (p.Glu2183Ter) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV002502079]|not provided [RCV002263253] Chr2:215372076 [GRCh38]
Chr2:216236799 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5294A>C (p.His1765Pro) single nucleotide variant Inborn genetic diseases [RCV003286379] Chr2:215380951 [GRCh38]
Chr2:216245674 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4588T>G (p.Leu1530Val) single nucleotide variant not provided [RCV003144076] Chr2:215386713 [GRCh38]
Chr2:216251436 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1967A>C (p.Glu656Ala) single nucleotide variant not provided [RCV003152148] Chr2:215410089 [GRCh38]
Chr2:216274812 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5491G>A (p.Ala1831Thr) single nucleotide variant Inborn genetic diseases [RCV003307157]|not provided [RCV003730523] Chr2:215379261 [GRCh38]
Chr2:216243984 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6430G>A (p.Glu2144Lys) single nucleotide variant not provided [RCV002303827] Chr2:215372193 [GRCh38]
Chr2:216236916 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.811G>A (p.Glu271Lys) single nucleotide variant not provided [RCV002304132] Chr2:215428213 [GRCh38]
Chr2:216292936 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.772T>C (p.Cys258Arg) single nucleotide variant not provided [RCV002301700] Chr2:215428252 [GRCh38]
Chr2:216292975 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7257G>C (p.Trp2419Cys) single nucleotide variant not provided [RCV002305069] Chr2:215362074 [GRCh38]
Chr2:216226797 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6943A>T (p.Met2315Leu) single nucleotide variant not provided [RCV002294874] Chr2:215367938 [GRCh38]
Chr2:216232661 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2049C>G (p.Ser683Arg) single nucleotide variant not provided [RCV002296702] Chr2:215410007 [GRCh38]
Chr2:216274730 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3218A>T (p.Gln1073Leu) single nucleotide variant not provided [RCV002296779] Chr2:215404424 [GRCh38]
Chr2:216269147 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1385C>G (p.Pro462Arg) single nucleotide variant not provided [RCV002301469] Chr2:215423358 [GRCh38]
Chr2:216288081 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.719A>G (p.Tyr240Cys) single nucleotide variant not provided [RCV002295196] Chr2:215428305 [GRCh38]
Chr2:216293028 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5637T>C (p.Tyr1879=) single nucleotide variant not provided [RCV002686403] Chr2:215378248 [GRCh38]
Chr2:216242971 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6767G>T (p.Gly2256Val) single nucleotide variant not provided [RCV003014035] Chr2:215370380 [GRCh38]
Chr2:216235103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5340G>A (p.Leu1780=) single nucleotide variant not provided [RCV003032510] Chr2:215380905 [GRCh38]
Chr2:216245628 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4300G>A (p.Glu1434Lys) single nucleotide variant not provided [RCV003014962] Chr2:215388254 [GRCh38]
Chr2:216252977 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4746C>T (p.Val1582=) single nucleotide variant not provided [RCV002880376] Chr2:215384168 [GRCh38]
Chr2:216248891 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6448C>T (p.Arg2150Trp) single nucleotide variant not provided [RCV002967476] Chr2:215372175 [GRCh38]
Chr2:216236898 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1418A>G (p.Asn473Ser) single nucleotide variant not provided [RCV002815727] Chr2:215422219 [GRCh38]
Chr2:216286942 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1140G>A (p.Gln380=) single nucleotide variant not provided [RCV002880990] Chr2:215424222 [GRCh38]
Chr2:216288945 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3497T>C (p.Ile1166Thr) single nucleotide variant not provided [RCV002794872] Chr2:215397700 [GRCh38]
Chr2:216262423 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4070-19C>A single nucleotide variant not provided [RCV002756138] Chr2:215391833 [GRCh38]
Chr2:216256556 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2715T>C (p.Asp905=) single nucleotide variant not provided [RCV002618910] Chr2:215406509 [GRCh38]
Chr2:216271232 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4957T>C (p.Trp1653Arg) single nucleotide variant not provided [RCV002837588] Chr2:215383421 [GRCh38]
Chr2:216248144 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7193A>T (p.Gln2398Leu) single nucleotide variant Inborn genetic diseases [RCV002818363] Chr2:215364937 [GRCh38]
Chr2:216229660 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4053A>G (p.Thr1351=) single nucleotide variant not provided [RCV002617500] Chr2:215392947 [GRCh38]
Chr2:216257670 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.687T>G (p.Asn229Lys) single nucleotide variant not provided [RCV003016289] Chr2:215428337 [GRCh38]
Chr2:216293060 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5208C>T (p.Val1736=) single nucleotide variant not provided [RCV002636173] Chr2:215381037 [GRCh38]
Chr2:216245760 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7183G>A (p.Val2395Ile) single nucleotide variant Inborn genetic diseases [RCV002689029]|not provided [RCV003778562] Chr2:215364947 [GRCh38]
Chr2:216229670 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4729+9G>A single nucleotide variant not provided [RCV002771034] Chr2:215384851 [GRCh38]
Chr2:216249574 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5434+13T>C single nucleotide variant not provided [RCV002613550] Chr2:215380798 [GRCh38]
Chr2:216245521 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5842A>G (p.Ile1948Val) single nucleotide variant not provided [RCV003016449] Chr2:215376543 [GRCh38]
Chr2:216241266 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4729+15T>C single nucleotide variant not provided [RCV002756072] Chr2:215384845 [GRCh38]
Chr2:216249568 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6615A>G (p.Glu2205=) single nucleotide variant not provided [RCV002908270] Chr2:215372008 [GRCh38]
Chr2:216236731 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4079C>T (p.Pro1360Leu) single nucleotide variant not provided [RCV002905000] Chr2:215391805 [GRCh38]
Chr2:216256528 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4524C>T (p.Asn1508=) single nucleotide variant not provided [RCV002616014] Chr2:215386777 [GRCh38]
Chr2:216251500 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7426C>T (p.Arg2476Ter) single nucleotide variant not provided [RCV002972236] Chr2:215361563 [GRCh38]
Chr2:216226286 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5914A>T (p.Ile1972Phe) single nucleotide variant Inborn genetic diseases [RCV002729256] Chr2:215375692 [GRCh38]
Chr2:216240415 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7285G>A (p.Gly2429Ser) single nucleotide variant Inborn genetic diseases [RCV002777856] Chr2:215362046 [GRCh38]
Chr2:216226769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5391C>T (p.His1797=) single nucleotide variant not provided [RCV002755035] Chr2:215380854 [GRCh38]
Chr2:216245577 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1584C>T (p.Asn528=) single nucleotide variant not provided [RCV002750891] Chr2:215420764 [GRCh38]
Chr2:216285487 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.147G>A (p.Lys49=) single nucleotide variant not provided [RCV002775585] Chr2:215435656 [GRCh38]
Chr2:216300379 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6123G>A (p.Arg2041=) single nucleotide variant not provided [RCV002862536] Chr2:215375248 [GRCh38]
Chr2:216239971 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2537C>T (p.Ser846Leu) single nucleotide variant not provided [RCV002616716] Chr2:215407303 [GRCh38]
Chr2:216272026 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7401T>A (p.Asp2467Glu) single nucleotide variant not provided [RCV003075068] Chr2:215361588 [GRCh38]
Chr2:216226311 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3226C>T (p.Pro1076Ser) single nucleotide variant Inborn genetic diseases [RCV002906164] Chr2:215404416 [GRCh38]
Chr2:216269139 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.762C>T (p.Asn254=) single nucleotide variant not provided [RCV002858040] Chr2:215428262 [GRCh38]
Chr2:216292985 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5013T>C (p.Asn1671=) single nucleotide variant not provided [RCV002614104] Chr2:215383365 [GRCh38]
Chr2:216248088 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4882A>C (p.Asn1628His) single nucleotide variant Inborn genetic diseases [RCV002883143] Chr2:215384032 [GRCh38]
Chr2:216248755 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5623-14C>T single nucleotide variant not provided [RCV002686274] Chr2:215378276 [GRCh38]
Chr2:216242999 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3324G>A (p.Thr1108=) single nucleotide variant not provided [RCV002947573] Chr2:215399281 [GRCh38]
Chr2:216264004 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7165G>C (p.Asp2389His) single nucleotide variant not provided [RCV003016591] Chr2:215364965 [GRCh38]
Chr2:216229688 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4081C>T (p.Pro1361Ser) single nucleotide variant Inborn genetic diseases [RCV002687638] Chr2:215391803 [GRCh38]
Chr2:216256526 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3121C>A (p.Gln1041Lys) single nucleotide variant not provided [RCV002908868] Chr2:215404521 [GRCh38]
Chr2:216269244 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7076G>T (p.Gly2359Val) single nucleotide variant not provided [RCV003013927] Chr2:215365573 [GRCh38]
Chr2:216230296 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3205A>T (p.Ile1069Leu) single nucleotide variant Inborn genetic diseases [RCV002688919] Chr2:215404437 [GRCh38]
Chr2:216269160 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4859C>A (p.Ala1620Glu) single nucleotide variant Inborn genetic diseases [RCV002793419] Chr2:215384055 [GRCh38]
Chr2:216248778 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5732C>T (p.Ala1911Val) single nucleotide variant Inborn genetic diseases [RCV003250676]|not provided [RCV002972497] Chr2:215376653 [GRCh38]
Chr2:216241376 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4613-12T>G single nucleotide variant not provided [RCV002726743] Chr2:215384988 [GRCh38]
Chr2:216249711 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4291A>G (p.Ser1431Gly) single nucleotide variant not provided [RCV002690852] Chr2:215388263 [GRCh38]
Chr2:216252986 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2986+15A>G single nucleotide variant not provided [RCV002800485] Chr2:215406223 [GRCh38]
Chr2:216270946 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5537G>A (p.Arg1846Gln) single nucleotide variant not provided [RCV002572144] Chr2:215379215 [GRCh38]
Chr2:216243938 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7119A>G (p.Gly2373=) single nucleotide variant not provided [RCV002706520] Chr2:215365530 [GRCh38]
Chr2:216230253 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6119C>G (p.Pro2040Arg) single nucleotide variant not provided [RCV002572140] Chr2:215375252 [GRCh38]
Chr2:216239975 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.685+17T>A single nucleotide variant not provided [RCV002740305] Chr2:215430698 [GRCh38]
Chr2:216295421 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.600G>A (p.Thr200=) single nucleotide variant not provided [RCV002800399] Chr2:215430800 [GRCh38]
Chr2:216295523 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3718G>A (p.Gly1240Ser) single nucleotide variant Inborn genetic diseases [RCV003167760]|not provided [RCV002785934] Chr2:215394606 [GRCh38]
Chr2:216259329 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7019-5dup duplication not provided [RCV002593001] Chr2:215365634..215365635 [GRCh38]
Chr2:216230357..216230358 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.9G>C (p.Arg3Ser) single nucleotide variant not provided [RCV002740181] Chr2:215435794 [GRCh38]
Chr2:216300517 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1736A>T (p.Tyr579Phe) single nucleotide variant Inborn genetic diseases [RCV003273975]|not provided [RCV002640157] Chr2:215419325 [GRCh38]
Chr2:216284048 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.200G>A (p.Arg67Gln) single nucleotide variant Inborn genetic diseases [RCV002692459] Chr2:215434773 [GRCh38]
Chr2:216299496 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2851G>A (p.Gly951Arg) single nucleotide variant not provided [RCV002785793] Chr2:215406373 [GRCh38]
Chr2:216271096 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1338T>C (p.Cys446=) single nucleotide variant not provided [RCV002662869] Chr2:215423405 [GRCh38]
Chr2:216288128 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2428+6T>C single nucleotide variant not provided [RCV002979727] Chr2:215408292 [GRCh38]
Chr2:216273015 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3380C>G (p.Ala1127Gly) single nucleotide variant Inborn genetic diseases [RCV002636645]|not provided [RCV002620537] Chr2:215397817 [GRCh38]
Chr2:216262540 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1941+11C>T single nucleotide variant not provided [RCV003018347] Chr2:215414826 [GRCh38]
Chr2:216279549 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.149-10T>A single nucleotide variant not provided [RCV002975922] Chr2:215434834 [GRCh38]
Chr2:216299557 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3359G>A (p.Arg1120Gln) single nucleotide variant not provided [RCV003100378] Chr2:215397838 [GRCh38]
Chr2:216262561 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6546G>C (p.Arg2182Ser) single nucleotide variant Inborn genetic diseases [RCV003167889]|not provided [RCV002912473] Chr2:215372077 [GRCh38]
Chr2:216236800 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3776T>C (p.Ile1259Thr) single nucleotide variant Inborn genetic diseases [RCV002737533] Chr2:215394548 [GRCh38]
Chr2:216259271 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3785C>A (p.Thr1262Asn) single nucleotide variant not provided [RCV002636594] Chr2:215394539 [GRCh38]
Chr2:216259262 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1639G>A (p.Gly547Ser) single nucleotide variant not provided [RCV002756729] Chr2:215420709 [GRCh38]
Chr2:216285432 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4032C>T (p.Gly1344=) single nucleotide variant not provided [RCV002620124] Chr2:215392968 [GRCh38]
Chr2:216257691 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2032G>A (p.Glu678Lys) single nucleotide variant not provided [RCV002780192] Chr2:215410024 [GRCh38]
Chr2:216274747 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4894+10_4894+12dup duplication not provided [RCV002796394] Chr2:215384007..215384008 [GRCh38]
Chr2:216248730..216248731 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6053G>A (p.Arg2018His) single nucleotide variant Inborn genetic diseases [RCV003274259]|not provided [RCV002619097] Chr2:215375318 [GRCh38]
Chr2:216240041 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.1389G>A (p.Met463Ile) single nucleotide variant not provided [RCV002756901] Chr2:215423354 [GRCh38]
Chr2:216288077 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3254-4A>T single nucleotide variant not provided [RCV003036161] Chr2:215399355 [GRCh38]
Chr2:216264078 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5614G>C (p.Gly1872Arg) single nucleotide variant not provided [RCV002736155] Chr2:215379138 [GRCh38]
Chr2:216243861 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5490C>T (p.Ser1830=) single nucleotide variant not provided [RCV003100215] Chr2:215379262 [GRCh38]
Chr2:216243985 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4070-12G>A single nucleotide variant not provided [RCV002621984] Chr2:215391826 [GRCh38]
Chr2:216256549 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4325G>C (p.Arg1442Thr) single nucleotide variant not provided [RCV002636458] Chr2:215388229 [GRCh38]
Chr2:216252952 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6577G>A (p.Gly2193Ser) single nucleotide variant not provided [RCV002590490] Chr2:215372046 [GRCh38]
Chr2:216236769 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5622+20_5622+21delinsGG indel not provided [RCV002706613] Chr2:215379109..215379110 [GRCh38]
Chr2:216243832..216243833 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.149-7T>A single nucleotide variant not provided [RCV002975920] Chr2:215434831 [GRCh38]
Chr2:216299554 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1675+13A>G single nucleotide variant not provided [RCV002591186] Chr2:215420660 [GRCh38]
Chr2:216285383 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4174C>T (p.Arg1392Cys) single nucleotide variant not provided [RCV002979291] Chr2:215391710 [GRCh38]
Chr2:216256433 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1897C>G (p.Pro633Ala) single nucleotide variant not provided [RCV002570248] Chr2:215414881 [GRCh38]
Chr2:216279604 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3541C>G (p.His1181Asp) single nucleotide variant Inborn genetic diseases [RCV002704819]|not provided [RCV003561171] Chr2:215397200 [GRCh38]
Chr2:216261923 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6854-4A>G single nucleotide variant not provided [RCV002621659] Chr2:215368031 [GRCh38]
Chr2:216232754 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5164+9C>T single nucleotide variant not provided [RCV002912843] Chr2:215382203 [GRCh38]
Chr2:216246926 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6558C>T (p.Asp2186=) single nucleotide variant not provided [RCV002695000] Chr2:215372065 [GRCh38]
Chr2:216236788 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6261A>C (p.Gln2087His) single nucleotide variant not provided [RCV003080034] Chr2:215372362 [GRCh38]
Chr2:216237085 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4584T>C (p.Ser1528=) single nucleotide variant not provided [RCV003055154] Chr2:215386717 [GRCh38]
Chr2:216251440 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1685A>C (p.Gln562Pro) single nucleotide variant not provided [RCV002706389] Chr2:215419376 [GRCh38]
Chr2:216284099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5579A>G (p.Asn1860Ser) single nucleotide variant not provided [RCV002639103] Chr2:215379173 [GRCh38]
Chr2:216243896 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3875C>A (p.Ser1292Tyr) single nucleotide variant not provided [RCV002639847] Chr2:215393125 [GRCh38]
Chr2:216257848 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1363G>A (p.Asp455Asn) single nucleotide variant not provided [RCV002949700] Chr2:215423380 [GRCh38]
Chr2:216288103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.770A>G (p.Gln257Arg) single nucleotide variant not provided [RCV002912681] Chr2:215428254 [GRCh38]
Chr2:216292977 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1653C>T (p.Gly551=) single nucleotide variant not provided [RCV002848371] Chr2:215420695 [GRCh38]
Chr2:216285418 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3817C>T (p.Leu1273=) single nucleotide variant not provided [RCV002821066] Chr2:215393183 [GRCh38]
Chr2:216257906 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3748G>A (p.Val1250Ile) single nucleotide variant not provided [RCV002761624] Chr2:215394576 [GRCh38]
Chr2:216259299 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2850C>T (p.His950=) single nucleotide variant not provided [RCV002999199] Chr2:215406374 [GRCh38]
Chr2:216271097 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7212C>T (p.Leu2404=) single nucleotide variant not provided [RCV002976083] Chr2:215364918 [GRCh38]
Chr2:216229641 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6127C>T (p.Arg2043Cys) single nucleotide variant Inborn genetic diseases [RCV002845738] Chr2:215375244 [GRCh38]
Chr2:216239967 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1687G>T (p.Asp563Tyr) single nucleotide variant Inborn genetic diseases [RCV002782627] Chr2:215419374 [GRCh38]
Chr2:216284097 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2760C>T (p.Asp920=) single nucleotide variant not provided [RCV002662503] Chr2:215406464 [GRCh38]
Chr2:216271187 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3829G>C (p.Asp1277His) single nucleotide variant not provided [RCV002691166] Chr2:215393171 [GRCh38]
Chr2:216257894 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4921G>C (p.Val1641Leu) single nucleotide variant not provided [RCV002736165] Chr2:215383457 [GRCh38]
Chr2:216248180 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.547+12T>G single nucleotide variant not provided [RCV003053704] Chr2:215431821 [GRCh38]
Chr2:216296544 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2697T>C (p.Thr899=) single nucleotide variant not provided [RCV002695001] Chr2:215407143 [GRCh38]
Chr2:216271866 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.469C>G (p.Pro157Ala) single nucleotide variant not provided [RCV003038834] Chr2:215431911 [GRCh38]
Chr2:216296634 [GRCh37]
Chr2:2q35		 uncertain significance
NC_000002.12:g.215362057_215362082dup duplication not provided [RCV002932230] Chr2:215362053..215362054 [GRCh38]
Chr2:216226776..216226777 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1675+9C>A single nucleotide variant not provided [RCV002573718] Chr2:215420664 [GRCh38]
Chr2:216285387 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2307A>G (p.Pro769=) single nucleotide variant not provided [RCV002576331] Chr2:215408419 [GRCh38]
Chr2:216273142 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5341C>T (p.Gln1781Ter) single nucleotide variant not provided [RCV002829968] Chr2:215380904 [GRCh38]
Chr2:216245627 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4054C>G (p.Leu1352Val) single nucleotide variant Inborn genetic diseases [RCV003167778]|not provided [RCV002805798] Chr2:215392946 [GRCh38]
Chr2:216257669 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5837C>T (p.Thr1946Ile) single nucleotide variant not provided [RCV002667572] Chr2:215376548 [GRCh38]
Chr2:216241271 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1216+18del deletion not provided [RCV003056203] Chr2:215424128 [GRCh38]
Chr2:216288851 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3349-6dup duplication not provided [RCV002595225] Chr2:215397853..215397854 [GRCh38]
Chr2:216262576..216262577 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6820G>A (p.Val2274Ile) single nucleotide variant not provided [RCV002711467] Chr2:215370327 [GRCh38]
Chr2:216235050 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2987-20T>C single nucleotide variant not provided [RCV003026239] Chr2:215404675 [GRCh38]
Chr2:216269398 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3349-1G>T single nucleotide variant not provided [RCV002596969] Chr2:215397849 [GRCh38]
Chr2:216262572 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4520C>G (p.Thr1507Ser) single nucleotide variant not provided [RCV002741920] Chr2:215386781 [GRCh38]
Chr2:216251504 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4392T>C (p.Ser1464=) single nucleotide variant not provided [RCV002958142] Chr2:215386909 [GRCh38]
Chr2:216251632 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5417T>G (p.Ile1806Ser) single nucleotide variant Inborn genetic diseases [RCV002762933] Chr2:215380828 [GRCh38]
Chr2:216245551 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4070-9C>T single nucleotide variant not provided [RCV002932518] Chr2:215391823 [GRCh38]
Chr2:216256546 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5887+14T>C single nucleotide variant not provided [RCV002872211] Chr2:215376484 [GRCh38]
Chr2:216241207 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.703G>A (p.Asp235Asn) single nucleotide variant not provided [RCV002801200] Chr2:215428321 [GRCh38]
Chr2:216293044 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3908T>C (p.Val1303Ala) single nucleotide variant not provided [RCV002664281] Chr2:215393092 [GRCh38]
Chr2:216257815 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2106C>T (p.Thr702=) single nucleotide variant not provided [RCV002872228] Chr2:215409950 [GRCh38]
Chr2:216274673 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7393C>G (p.Pro2465Ala) single nucleotide variant Inborn genetic diseases [RCV002803487] Chr2:215361596 [GRCh38]
Chr2:216226319 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2879C>A (p.Thr960Asn) single nucleotide variant not provided [RCV002741790] Chr2:215406345 [GRCh38]
Chr2:216271068 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.191A>G (p.Gln64Arg) single nucleotide variant not provided [RCV002850873] Chr2:215434782 [GRCh38]
Chr2:216299505 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3860G>A (p.Trp1287Ter) single nucleotide variant not provided [RCV002593885] Chr2:215393140 [GRCh38]
Chr2:216257863 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5597C>T (p.Ser1866Leu) single nucleotide variant not provided [RCV002624496] Chr2:215379155 [GRCh38]
Chr2:216243878 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1579G>T (p.Val527Leu) single nucleotide variant not provided [RCV002700199] Chr2:215420769 [GRCh38]
Chr2:216285492 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3868C>T (p.Leu1290=) single nucleotide variant not provided [RCV002595029] Chr2:215393132 [GRCh38]
Chr2:216257855 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1567A>C (p.Ile523Leu) single nucleotide variant not provided [RCV002766019] Chr2:215420781 [GRCh38]
Chr2:216285504 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2666G>A (p.Ser889Asn) single nucleotide variant not provided [RCV003058143] Chr2:215407174 [GRCh38]
Chr2:216271897 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3431C>T (p.Thr1144Ile) single nucleotide variant Inborn genetic diseases [RCV002875083] Chr2:215397766 [GRCh38]
Chr2:216262489 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5370A>G (p.Thr1790=) single nucleotide variant not provided [RCV003059515] Chr2:215380875 [GRCh38]
Chr2:216245598 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3505A>G (p.Lys1169Glu) single nucleotide variant not provided [RCV002623920] Chr2:215397692 [GRCh38]
Chr2:216262415 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4894+14C>T single nucleotide variant not provided [RCV002574044] Chr2:215384006 [GRCh38]
Chr2:216248729 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7019-4A>G single nucleotide variant not provided [RCV002667325] Chr2:215365634 [GRCh38]
Chr2:216230357 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-14C>G single nucleotide variant not provided [RCV002790750] Chr2:215362093 [GRCh38]
Chr2:216226816 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1680A>G (p.Gln560=) single nucleotide variant not provided [RCV003059095] Chr2:215419381 [GRCh38]
Chr2:216284104 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1036+5G>A single nucleotide variant not provided [RCV002574822] Chr2:215425089 [GRCh38]
Chr2:216289812 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.371C>A (p.Thr124Asn) single nucleotide variant not provided [RCV002957227] Chr2:215433368 [GRCh38]
Chr2:216298091 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2813G>A (p.Arg938His) single nucleotide variant Inborn genetic diseases [RCV002805098] Chr2:215406411 [GRCh38]
Chr2:216271134 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7251G>A (p.Arg2417=) single nucleotide variant not provided [RCV002595086] Chr2:215364879 [GRCh38]
Chr2:216229602 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1508G>A (p.Arg503His) single nucleotide variant not provided [RCV002573937] Chr2:215422129 [GRCh38]
Chr2:216286852 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2786C>T (p.Pro929Leu) single nucleotide variant Inborn genetic diseases [RCV002984150] Chr2:215406438 [GRCh38]
Chr2:216271161 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5273C>T (p.Ser1758Leu) single nucleotide variant not provided [RCV002957273] Chr2:215380972 [GRCh38]
Chr2:216245695 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.685+3A>G single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV002790041] Chr2:215430712 [GRCh38]
Chr2:216295435 [GRCh37]
Chr2:2q35		 likely pathogenic
NM_212482.4(FN1):c.2335G>C (p.Asp779His) single nucleotide variant not provided [RCV003041662] Chr2:215408391 [GRCh38]
Chr2:216273114 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4172T>C (p.Val1391Ala) single nucleotide variant not provided [RCV002932661] Chr2:215391712 [GRCh38]
Chr2:216256435 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4275T>C (p.Tyr1425=) single nucleotide variant not provided [RCV002594124] Chr2:215388279 [GRCh38]
Chr2:216253002 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2518+12G>A single nucleotide variant not provided [RCV002575168] Chr2:215408096 [GRCh38]
Chr2:216272819 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.148+16G>C single nucleotide variant not provided [RCV002575990] Chr2:215435639 [GRCh38]
Chr2:216300362 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3323C>T (p.Thr1108Met) single nucleotide variant not provided [RCV002958019] Chr2:215399282 [GRCh38]
Chr2:216264005 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5509A>C (p.Asn1837His) single nucleotide variant not provided [RCV002766520] Chr2:215379243 [GRCh38]
Chr2:216243966 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.14C>T (p.Pro5Leu) single nucleotide variant not provided [RCV002958061] Chr2:215435789 [GRCh38]
Chr2:216300512 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2986+15A>C single nucleotide variant not provided [RCV002710469] Chr2:215406223 [GRCh38]
Chr2:216270946 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.593G>C (p.Gly198Ala) single nucleotide variant not provided [RCV002805410] Chr2:215430807 [GRCh38]
Chr2:216295530 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.502G>A (p.Val168Met) single nucleotide variant Inborn genetic diseases [RCV002698082] Chr2:215431878 [GRCh38]
Chr2:216296601 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6858C>T (p.Asn2286=) single nucleotide variant not provided [RCV002985583] Chr2:215368023 [GRCh38]
Chr2:216232746 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4175G>A (p.Arg1392His) single nucleotide variant FN1-related condition [RCV003963701]|Inborn genetic diseases [RCV002623782]|not provided [RCV002607638] Chr2:215391709 [GRCh38]
Chr2:216256432 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3935T>C (p.Phe1312Ser) single nucleotide variant not provided [RCV002790411] Chr2:215393065 [GRCh38]
Chr2:216257788 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6715-11G>A single nucleotide variant not provided [RCV002790413] Chr2:215370443 [GRCh38]
Chr2:216235166 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4792G>A (p.Gly1598Ser) single nucleotide variant not provided [RCV002573161] Chr2:215384122 [GRCh38]
Chr2:216248845 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4070-8G>A single nucleotide variant not provided [RCV002596253] Chr2:215391822 [GRCh38]
Chr2:216256545 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1233A>T (p.Arg411=) single nucleotide variant not provided [RCV003057356] Chr2:215423510 [GRCh38]
Chr2:216288233 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2587A>G (p.Asn863Asp) single nucleotide variant Inborn genetic diseases [RCV002588569]|not provided [RCV002595438] Chr2:215407253 [GRCh38]
Chr2:216271976 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6122G>A (p.Arg2041Gln) single nucleotide variant not provided [RCV002599063] Chr2:215375249 [GRCh38]
Chr2:216239972 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3987G>T (p.Glu1329Asp) single nucleotide variant not provided [RCV002812129] Chr2:215393013 [GRCh38]
Chr2:216257736 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6168G>A (p.Pro2056=) single nucleotide variant not provided [RCV002937374] Chr2:215373401 [GRCh38]
Chr2:216238124 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2442_2443delinsAT (p.Pro815Ser) indel not provided [RCV002630091] Chr2:215408183..215408184 [GRCh38]
Chr2:216272906..216272907 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6839C>A (p.Thr2280Asn) single nucleotide variant Inborn genetic diseases [RCV002898158] Chr2:215370308 [GRCh38]
Chr2:216235031 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5255G>A (p.Arg1752Lys) single nucleotide variant not provided [RCV002811842] Chr2:215380990 [GRCh38]
Chr2:216245713 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1468A>G (p.Met490Val) single nucleotide variant not provided [RCV002650116] Chr2:215422169 [GRCh38]
Chr2:216286892 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1546+13del deletion not provided [RCV002581115] Chr2:215422078 [GRCh38]
Chr2:216286801 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5560G>A (p.Gly1854Arg) single nucleotide variant not provided [RCV002646678] Chr2:215379192 [GRCh38]
Chr2:216243915 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5828A>G (p.Asn1943Ser) single nucleotide variant not provided [RCV002602834] Chr2:215376557 [GRCh38]
Chr2:216241280 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3264G>T (p.Gly1088=) single nucleotide variant not provided [RCV003049192] Chr2:215399341 [GRCh38]
Chr2:216264064 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.176A>G (p.Tyr59Cys) single nucleotide variant not provided [RCV003027240] Chr2:215434797 [GRCh38]
Chr2:216299520 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6158-8C>A single nucleotide variant not provided [RCV003009532] Chr2:215373419 [GRCh38]
Chr2:216238142 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.894T>C (p.Pro298=) single nucleotide variant not provided [RCV002602533] Chr2:215425236 [GRCh38]
Chr2:216289959 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2299+10A>T single nucleotide variant not provided [RCV003031182] Chr2:215409553 [GRCh38]
Chr2:216274276 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2252G>A (p.Arg751Gln) single nucleotide variant not provided [RCV002600568] Chr2:215409610 [GRCh38]
Chr2:216274333 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6888G>A (p.Ser2296=) single nucleotide variant not provided [RCV002806051] Chr2:215367993 [GRCh38]
Chr2:216232716 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6134G>T (p.Gly2045Val) single nucleotide variant not provided [RCV003028776] Chr2:215375237 [GRCh38]
Chr2:216239960 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5578A>C (p.Asn1860His) single nucleotide variant Inborn genetic diseases [RCV003269477]|not provided [RCV002599103] Chr2:215379174 [GRCh38]
Chr2:216243897 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.898C>G (p.Pro300Ala) single nucleotide variant not provided [RCV003045146] Chr2:215425232 [GRCh38]
Chr2:216289955 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.832A>G (p.Thr278Ala) single nucleotide variant not provided [RCV003010384] Chr2:215428192 [GRCh38]
Chr2:216292915 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2927A>G (p.Lys976Arg) single nucleotide variant Inborn genetic diseases [RCV002669053] Chr2:215406297 [GRCh38]
Chr2:216271020 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1589C>G (p.Thr530Arg) single nucleotide variant Inborn genetic diseases [RCV002895949] Chr2:215420759 [GRCh38]
Chr2:216285482 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1844T>A (p.Phe615Tyr) single nucleotide variant not provided [RCV002645829] Chr2:215414934 [GRCh38]
Chr2:216279657 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2730C>A (p.Pro910=) single nucleotide variant not provided [RCV002646662] Chr2:215406494 [GRCh38]
Chr2:216271217 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6466A>G (p.Thr2156Ala) single nucleotide variant not provided [RCV002805995] Chr2:215372157 [GRCh38]
Chr2:216236880 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5935G>A (p.Asp1979Asn) single nucleotide variant not provided [RCV002770122] Chr2:215375671 [GRCh38]
Chr2:216240394 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4096T>C (p.Phe1366Leu) single nucleotide variant not provided [RCV003027571] Chr2:215391788 [GRCh38]
Chr2:216256511 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5164+11A>G single nucleotide variant not provided [RCV002631283] Chr2:215382201 [GRCh38]
Chr2:216246924 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7154C>T (p.Thr2385Met) single nucleotide variant Inborn genetic diseases [RCV002831756] Chr2:215364976 [GRCh38]
Chr2:216229699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4804G>A (p.Gly1602Arg) single nucleotide variant not provided [RCV002811999] Chr2:215384110 [GRCh38]
Chr2:216248833 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1672G>A (p.Val558Ile) single nucleotide variant not provided [RCV002649333] Chr2:215420676 [GRCh38]
Chr2:216285399 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4253-15C>A single nucleotide variant not provided [RCV003048483] Chr2:215388316 [GRCh38]
Chr2:216253039 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1123A>G (p.Thr375Ala) single nucleotide variant Inborn genetic diseases [RCV002714248] Chr2:215424239 [GRCh38]
Chr2:216288962 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5068A>G (p.Ile1690Val) single nucleotide variant Inborn genetic diseases [RCV002897322] Chr2:215382308 [GRCh38]
Chr2:216247031 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2231C>T (p.Ser744Phe) single nucleotide variant not provided [RCV003028845] Chr2:215409631 [GRCh38]
Chr2:216274354 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6619C>G (p.Leu2207Val) single nucleotide variant Inborn genetic diseases [RCV002900789] Chr2:215372004 [GRCh38]
Chr2:216236727 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5631C>G (p.Thr1877=) single nucleotide variant not provided [RCV002577433] Chr2:215378254 [GRCh38]
Chr2:216242977 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1037-8G>C single nucleotide variant not provided [RCV003010084] Chr2:215424333 [GRCh38]
Chr2:216289056 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4818C>T (p.Thr1606=) single nucleotide variant not provided [RCV002834441] Chr2:215384096 [GRCh38]
Chr2:216248819 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6371G>A (p.Gly2124Asp) single nucleotide variant Inborn genetic diseases [RCV002719034] Chr2:215372252 [GRCh38]
Chr2:216236975 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4562C>G (p.Ala1521Gly) single nucleotide variant not provided [RCV002650854] Chr2:215386739 [GRCh38]
Chr2:216251462 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5219A>G (p.Lys1740Arg) single nucleotide variant not provided [RCV003064202] Chr2:215381026 [GRCh38]
Chr2:216245749 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2750A>C (p.Glu917Ala) single nucleotide variant Inborn genetic diseases [RCV002718580] Chr2:215406474 [GRCh38]
Chr2:216271197 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5164+4C>T single nucleotide variant not provided [RCV003090346] Chr2:215382208 [GRCh38]
Chr2:216246931 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.593_595del (p.Gly198del) deletion not provided [RCV002937123] Chr2:215430805..215430807 [GRCh38]
Chr2:216295528..216295530 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5622+13C>T single nucleotide variant not provided [RCV002717366] Chr2:215379117 [GRCh38]
Chr2:216243840 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3448G>A (p.Val1150Ile) single nucleotide variant not provided [RCV002651603] Chr2:215397749 [GRCh38]
Chr2:216262472 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3348+8G>A single nucleotide variant not provided [RCV002806122] Chr2:215399249 [GRCh38]
Chr2:216263972 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.697G>A (p.Asp233Asn) single nucleotide variant not provided [RCV002577117] Chr2:215428327 [GRCh38]
Chr2:216293050 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1448A>G (p.Gln483Arg) single nucleotide variant not provided [RCV002601674] Chr2:215422189 [GRCh38]
Chr2:216286912 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5981T>C (p.Ile1994Thr) single nucleotide variant not provided [RCV002598074] Chr2:215375390 [GRCh38]
Chr2:216240113 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5821C>T (p.Pro1941Ser) single nucleotide variant Inborn genetic diseases [RCV002747090] Chr2:215376564 [GRCh38]
Chr2:216241287 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6247+17G>A single nucleotide variant not provided [RCV002650362] Chr2:215373305 [GRCh38]
Chr2:216238028 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1655G>A (p.Arg552Lys) single nucleotide variant not provided [RCV002632904] Chr2:215420693 [GRCh38]
Chr2:216285416 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3149A>G (p.Lys1050Arg) single nucleotide variant not provided [RCV003088502] Chr2:215404493 [GRCh38]
Chr2:216269216 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5710+17C>G single nucleotide variant not provided [RCV002598087] Chr2:215378158 [GRCh38]
Chr2:216242881 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.143G>A (p.Ser48Asn) single nucleotide variant not provided [RCV002834771] Chr2:215435660 [GRCh38]
Chr2:216300383 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4119C>T (p.Thr1373=) single nucleotide variant not provided [RCV002630865] Chr2:215391765 [GRCh38]
Chr2:216256488 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7335T>C (p.Ser2445=) single nucleotide variant not provided [RCV002720687] Chr2:215361996 [GRCh38]
Chr2:216226719 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1170G>A (p.Ser390=) single nucleotide variant not provided [RCV003091106] Chr2:215424192 [GRCh38]
Chr2:216288915 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1037-15T>G single nucleotide variant not provided [RCV002810212] Chr2:215424340 [GRCh38]
Chr2:216289063 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4905_4913del (p.Pro1636_Gln1638del) deletion not provided [RCV002835269] Chr2:215383465..215383473 [GRCh38]
Chr2:216248188..216248196 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6584G>A (p.Gly2195Glu) single nucleotide variant not provided [RCV002938770] Chr2:215372039 [GRCh38]
Chr2:216236762 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3600C>T (p.Thr1200=) single nucleotide variant not provided [RCV003086523] Chr2:215397141 [GRCh38]
Chr2:216261864 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2642A>G (p.Tyr881Cys) single nucleotide variant not provided [RCV002898594] Chr2:215407198 [GRCh38]
Chr2:216271921 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.416-5A>G single nucleotide variant not provided [RCV002632603] Chr2:215431969 [GRCh38]
Chr2:216296692 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2844C>T (p.Gly948=) single nucleotide variant not provided [RCV002834965] Chr2:215406380 [GRCh38]
Chr2:216271103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2238C>T (p.Thr746=) single nucleotide variant not provided [RCV002632618] Chr2:215409624 [GRCh38]
Chr2:216274347 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3716C>G (p.Pro1239Arg) single nucleotide variant not provided [RCV003026387] Chr2:215394608 [GRCh38]
Chr2:216259331 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4844G>A (p.Arg1615His) single nucleotide variant not provided [RCV003062005] Chr2:215384070 [GRCh38]
Chr2:216248793 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.840G>A (p.Ser280=) single nucleotide variant not provided [RCV002671213] Chr2:215428184 [GRCh38]
Chr2:216292907 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4170G>A (p.Leu1390=) single nucleotide variant not provided [RCV002633565] Chr2:215391714 [GRCh38]
Chr2:216256437 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1232G>T (p.Arg411Leu) single nucleotide variant not provided [RCV002721492] Chr2:215423511 [GRCh38]
Chr2:216288234 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2465T>C (p.Val822Ala) single nucleotide variant Inborn genetic diseases [RCV002656490] Chr2:215408161 [GRCh38]
Chr2:216272884 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.790G>T (p.Gly264Cys) single nucleotide variant not provided [RCV002722143] Chr2:215428234 [GRCh38]
Chr2:216292957 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7308T>C (p.Thr2436=) single nucleotide variant not provided [RCV002721707] Chr2:215362023 [GRCh38]
Chr2:216226746 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5531G>A (p.Arg1844Gln) single nucleotide variant not provided [RCV002584949] Chr2:215379221 [GRCh38]
Chr2:216243944 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4455C>T (p.Pro1485=) single nucleotide variant not provided [RCV002603637] Chr2:215386846 [GRCh38]
Chr2:216251569 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5696T>C (p.Val1899Ala) single nucleotide variant not provided [RCV002585684] Chr2:215378189 [GRCh38]
Chr2:216242912 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.591C>G (p.Val197=) single nucleotide variant not provided [RCV002584124] Chr2:215430809 [GRCh38]
Chr2:216295532 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7252-10A>T single nucleotide variant not provided [RCV002658429] Chr2:215362089 [GRCh38]
Chr2:216226812 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-5dup duplication not provided [RCV003093160] Chr2:215384980..215384981 [GRCh38]
Chr2:216249703..216249704 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2713+13A>G single nucleotide variant not provided [RCV002609614] Chr2:215407114 [GRCh38]
Chr2:216271837 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4948A>C (p.Ser1650Arg) single nucleotide variant not provided [RCV002609801] Chr2:215383430 [GRCh38]
Chr2:216248153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3604+9G>C single nucleotide variant not provided [RCV002586124] Chr2:215397128 [GRCh38]
Chr2:216261851 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4445G>A (p.Arg1482His) single nucleotide variant not provided [RCV002653775] Chr2:215386856 [GRCh38]
Chr2:216251579 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7071T>A (p.Arg2357=) single nucleotide variant not provided [RCV002585297] Chr2:215365578 [GRCh38]
Chr2:216230301 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5887+11T>C single nucleotide variant not provided [RCV002658033] Chr2:215376487 [GRCh38]
Chr2:216241210 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3876T>C (p.Ser1292=) single nucleotide variant not provided [RCV002634482] Chr2:215393124 [GRCh38]
Chr2:216257847 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2674G>A (p.Val892Ile) single nucleotide variant Inborn genetic diseases [RCV003072187]|not provided [RCV003072186] Chr2:215407166 [GRCh38]
Chr2:216271889 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6248-7C>T single nucleotide variant not provided [RCV002607110] Chr2:215372382 [GRCh38]
Chr2:216237105 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4364T>C (p.Ile1455Thr) single nucleotide variant not provided [RCV002613313] Chr2:215386937 [GRCh38]
Chr2:216251660 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3452A>G (p.Tyr1151Cys) single nucleotide variant not provided [RCV002680758] Chr2:215397745 [GRCh38]
Chr2:216262468 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3031T>G (p.Ser1011Ala) single nucleotide variant Inborn genetic diseases [RCV003294450]|not provided [RCV003071859] Chr2:215404611 [GRCh38]
Chr2:216269334 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6173C>G (p.Thr2058Ser) single nucleotide variant not provided [RCV002814705] Chr2:215373396 [GRCh38]
Chr2:216238119 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3963A>G (p.Gly1321=) single nucleotide variant not provided [RCV003050208] Chr2:215393037 [GRCh38]
Chr2:216257760 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.660C>T (p.Ser220=) single nucleotide variant not provided [RCV002587487] Chr2:215430740 [GRCh38]
Chr2:216295463 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7299C>T (p.Pro2433=) single nucleotide variant not provided [RCV002725791] Chr2:215362032 [GRCh38]
Chr2:216226755 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6564C>T (p.His2188=) single nucleotide variant not provided [RCV002582343] Chr2:215372059 [GRCh38]
Chr2:216236782 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4982C>T (p.Thr1661Ile) single nucleotide variant Inborn genetic diseases [RCV003203690] Chr2:215383396 [GRCh38]
Chr2:216248119 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5945G>T (p.Arg1982Leu) single nucleotide variant Inborn genetic diseases [RCV003199983] Chr2:215375661 [GRCh38]
Chr2:216240384 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5810T>C (p.Val1937Ala) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV003142420]|not provided [RCV003669352] Chr2:215376575 [GRCh38]
Chr2:216241298 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3212G>C (p.Gly1071Ala) single nucleotide variant Inborn genetic diseases [RCV003211233] Chr2:215404430 [GRCh38]
Chr2:216269153 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4450C>T (p.His1484Tyr) single nucleotide variant Inborn genetic diseases [RCV003212980] Chr2:215386851 [GRCh38]
Chr2:216251574 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.278C>A (p.Ala93Asp) single nucleotide variant Inborn genetic diseases [RCV003221141] Chr2:215433461 [GRCh38]
Chr2:216298184 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q34-35(chr2:215074747-216700700)x1 copy number loss See cases [RCV003229519] Chr2:215074747..216700700 [GRCh37]
Chr2:2q34-35		 likely benign
NM_212482.4(FN1):c.5401G>C (p.Glu1801Gln) single nucleotide variant not provided [RCV003325071] Chr2:215380844 [GRCh38]
Chr2:216245567 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.338A>G (p.Glu113Gly) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV003319148] Chr2:215433401 [GRCh38]
Chr2:216298124 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1577A>G (p.Asn526Ser) single nucleotide variant Inborn genetic diseases [RCV003303795] Chr2:215420771 [GRCh38]
Chr2:216285494 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2055G>T (p.Gln685His) single nucleotide variant not provided [RCV003321255] Chr2:215410001 [GRCh38]
Chr2:216274724 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5133G>C (p.Glu1711Asp) single nucleotide variant Inborn genetic diseases [RCV003286120] Chr2:215382243 [GRCh38]
Chr2:216246966 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu) single nucleotide variant Inborn genetic diseases [RCV003369062]|not provided [RCV003778022] Chr2:215372042 [GRCh38]
Chr2:216236765 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.6175G>A (p.Glu2059Lys) single nucleotide variant FN1-related condition [RCV003420830] Chr2:215373394 [GRCh38]
Chr2:216238117 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3091G>A (p.Val1031Met) single nucleotide variant Inborn genetic diseases [RCV003350252]|not provided [RCV003730555] Chr2:215404551 [GRCh38]
Chr2:216269274 [GRCh37]
Chr2:2q35		 likely benign|uncertain significance
NM_212482.4(FN1):c.688A>G (p.Arg230Gly) single nucleotide variant not provided [RCV003569423] Chr2:215428336 [GRCh38]
Chr2:216293059 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2686C>T (p.Gln896Ter) single nucleotide variant not provided [RCV003575110]|not specified [RCV003479788] Chr2:215407154 [GRCh38]
Chr2:216271877 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5787T>C (p.Thr1929=) single nucleotide variant not provided [RCV003875093] Chr2:215376598 [GRCh38]
Chr2:216241321 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1421A>C (p.Glu474Ala) single nucleotide variant not provided [RCV003570467] Chr2:215422216 [GRCh38]
Chr2:216286939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2430G>A (p.Ala810=) single nucleotide variant not provided [RCV003873967] Chr2:215408196 [GRCh38]
Chr2:216272919 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6067G>A (p.Gly2023Ser) single nucleotide variant not provided [RCV003874743] Chr2:215375304 [GRCh38]
Chr2:216240027 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3990G>A (p.Pro1330=) single nucleotide variant not provided [RCV003875444] Chr2:215393010 [GRCh38]
Chr2:216257733 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4654C>A (p.Pro1552Thr) single nucleotide variant not provided [RCV003874881] Chr2:215384935 [GRCh38]
Chr2:216249658 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.718T>A (p.Tyr240Asn) single nucleotide variant not provided [RCV003543329] Chr2:215428306 [GRCh38]
Chr2:216293029 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3292G>A (p.Val1098Met) single nucleotide variant not provided [RCV003712649] Chr2:215399313 [GRCh38]
Chr2:216264036 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1462C>A (p.His488Asn) single nucleotide variant not provided [RCV003543744] Chr2:215422175 [GRCh38]
Chr2:216286898 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4649C>T (p.Ala1550Val) single nucleotide variant not provided [RCV003874830] Chr2:215384940 [GRCh38]
Chr2:216249663 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6456_6458delinsTTATGCCTAAAGTGGTTTTAG (p.Pro2153delinsTyrAlaTer) indel FN1-related condition [RCV003909051]|not provided [RCV003569104] Chr2:215372165..215372167 [GRCh38]
Chr2:216236888..216236890 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1713A>G (p.Gln571=) single nucleotide variant not provided [RCV003872786] Chr2:215419348 [GRCh38]
Chr2:216284071 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.600G>T (p.Thr200=) single nucleotide variant not provided [RCV003880936] Chr2:215430800 [GRCh38]
Chr2:216295523 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1503T>G (p.Asn501Lys) single nucleotide variant FN1-related condition [RCV003391626] Chr2:215422134 [GRCh38]
Chr2:216286857 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1261C>T (p.His421Tyr) single nucleotide variant FN1-related condition [RCV003427940] Chr2:215423482 [GRCh38]
Chr2:216288205 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2235C>A (p.Asp745Glu) single nucleotide variant FN1-related condition [RCV003400237] Chr2:215409627 [GRCh38]
Chr2:216274350 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5711A>G (p.Asn1904Ser) single nucleotide variant not provided [RCV003481677] Chr2:215376674 [GRCh38]
Chr2:216241397 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3517+1G>A single nucleotide variant FN1-related condition [RCV003397644] Chr2:215397679 [GRCh38]
Chr2:216262402 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5050+20C>T single nucleotide variant not provided [RCV003690941] Chr2:215383308 [GRCh38]
Chr2:216248031 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3673_3674del (p.Val1225fs) deletion not provided [RCV003487837] Chr2:215394650..215394651 [GRCh38]
Chr2:216259373..216259374 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.794G>A (p.Arg265Gln) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV003448714] Chr2:215428230 [GRCh38]
Chr2:216292953 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6686C>T (p.Pro2229Leu) single nucleotide variant FN1-related condition [RCV003391454] Chr2:215371937 [GRCh38]
Chr2:216236660 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5536C>T (p.Arg1846Trp) single nucleotide variant not provided [RCV003440153] Chr2:215379216 [GRCh38]
Chr2:216243939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3216C>A (p.Asn1072Lys) single nucleotide variant FN1-related condition [RCV003404519] Chr2:215404426 [GRCh38]
Chr2:216269149 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4448_4449delinsGC (p.His1483Arg) indel FN1-related condition [RCV003416712] Chr2:215386852..215386853 [GRCh38]
Chr2:216251575..216251576 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4452T>A (p.His1484Gln) single nucleotide variant FN1-related condition [RCV003393204] Chr2:215386849 [GRCh38]
Chr2:216251572 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2868C>T (p.Ile956=) single nucleotide variant not provided [RCV003579116] Chr2:215406356 [GRCh38]
Chr2:216271079 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4613-4C>T single nucleotide variant not provided [RCV003876278] Chr2:215384980 [GRCh38]
Chr2:216249703 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1618A>G (p.Met540Val) single nucleotide variant not provided [RCV003573661] Chr2:215420730 [GRCh38]
Chr2:216285453 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2843G>A (p.Gly948Asp) single nucleotide variant not provided [RCV003715887] Chr2:215406381 [GRCh38]
Chr2:216271104 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5483G>C (p.Ser1828Thr) single nucleotide variant not provided [RCV003547235] Chr2:215379269 [GRCh38]
Chr2:216243992 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5435-6C>T single nucleotide variant not provided [RCV003830361] Chr2:215379323 [GRCh38]
Chr2:216244046 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2628T>C (p.Tyr876=) single nucleotide variant not provided [RCV003827024] Chr2:215407212 [GRCh38]
Chr2:216271935 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6714+9T>C single nucleotide variant not provided [RCV003831585] Chr2:215371900 [GRCh38]
Chr2:216236623 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6781= (p.Val2261=) variation not provided [RCV003688663] Chr2:215370366 [GRCh38]
Chr2:216235089 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2714-10T>C single nucleotide variant not provided [RCV003828495] Chr2:215406520 [GRCh38]
Chr2:216271243 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.643T>C (p.Cys215Arg) single nucleotide variant not provided [RCV003694827] Chr2:215430757 [GRCh38]
Chr2:216295480 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.789C>T (p.Asn263=) single nucleotide variant not provided [RCV003878286] Chr2:215428235 [GRCh38]
Chr2:216292958 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5101G>A (p.Val1701Ile) single nucleotide variant not provided [RCV003692449] Chr2:215382275 [GRCh38]
Chr2:216246998 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6767G>A (p.Gly2256Asp) single nucleotide variant not provided [RCV003696788] Chr2:215370380 [GRCh38]
Chr2:216235103 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6568T>A (p.Tyr2190Asn) single nucleotide variant not provided [RCV003878987] Chr2:215372055 [GRCh38]
Chr2:216236778 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3176C>T (p.Ala1059Val) single nucleotide variant not provided [RCV003716725] Chr2:215404466 [GRCh38]
Chr2:216269189 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5168T>C (p.Ile1723Thr) single nucleotide variant not provided [RCV003825118] Chr2:215381077 [GRCh38]
Chr2:216245800 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1951G>A (p.Val651Ile) single nucleotide variant not provided [RCV003713055] Chr2:215410105 [GRCh38]
Chr2:216274828 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5002A>G (p.Thr1668Ala) single nucleotide variant not provided [RCV003662508] Chr2:215383376 [GRCh38]
Chr2:216248099 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6158-9T>C single nucleotide variant not provided [RCV003881893] Chr2:215373420 [GRCh38]
Chr2:216238143 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7077A>T (p.Gly2359=) single nucleotide variant not provided [RCV003545595] Chr2:215365572 [GRCh38]
Chr2:216230295 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1325A>G (p.Asn442Ser) single nucleotide variant not provided [RCV003880133] Chr2:215423418 [GRCh38]
Chr2:216288141 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5858A>T (p.Lys1953Met) single nucleotide variant not provided [RCV003577715] Chr2:215376527 [GRCh38]
Chr2:216241250 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2519-13C>T single nucleotide variant not provided [RCV003828783] Chr2:215407334 [GRCh38]
Chr2:216272057 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3349-20C>T single nucleotide variant not provided [RCV003686964] Chr2:215397868 [GRCh38]
Chr2:216262591 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5321A>T (p.Glu1774Val) single nucleotide variant not provided [RCV003877113] Chr2:215380924 [GRCh38]
Chr2:216245647 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5769T>C (p.Ile1923=) single nucleotide variant not provided [RCV003661489] Chr2:215376616 [GRCh38]
Chr2:216241339 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.793C>G (p.Arg265Gly) single nucleotide variant not provided [RCV003716386] Chr2:215428231 [GRCh38]
Chr2:216292954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.773G>T (p.Cys258Phe) single nucleotide variant not provided [RCV003573922] Chr2:215428251 [GRCh38]
Chr2:216292974 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4252+16T>C single nucleotide variant not provided [RCV003826255] Chr2:215391616 [GRCh38]
Chr2:216256339 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.638G>C (p.Cys213Ser) single nucleotide variant not provided [RCV003686557] Chr2:215430762 [GRCh38]
Chr2:216295485 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.899C>T (p.Pro300Leu) single nucleotide variant not provided [RCV003739255] Chr2:215425231 [GRCh38]
Chr2:216289954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7041G>C (p.Val2347=) single nucleotide variant not provided [RCV003572668] Chr2:215365608 [GRCh38]
Chr2:216230331 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4469G>C (p.Gly1490Ala) single nucleotide variant not provided [RCV003876617] Chr2:215386832 [GRCh38]
Chr2:216251555 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3453C>T (p.Tyr1151=) single nucleotide variant not provided [RCV003662887] Chr2:215397744 [GRCh38]
Chr2:216262467 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3518-18A>C single nucleotide variant not provided [RCV003716574] Chr2:215397241 [GRCh38]
Chr2:216261964 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4343-19C>G single nucleotide variant not provided [RCV003875946] Chr2:215386977 [GRCh38]
Chr2:216251700 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.2449= (p.Thr817=) variation not provided [RCV003688675] Chr2:215408177 [GRCh38]
Chr2:216272900 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.45G>T (p.Gln15His) single nucleotide variant not provided [RCV003687352] Chr2:215435758 [GRCh38]
Chr2:216300481 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4363A>G (p.Ile1455Val) single nucleotide variant not provided [RCV003716495] Chr2:215386938 [GRCh38]
Chr2:216251661 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7266C>A (p.Asp2422Glu) single nucleotide variant not provided [RCV003876282] Chr2:215362065 [GRCh38]
Chr2:216226788 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3026C>A (p.Thr1009Asn) single nucleotide variant not provided [RCV003876287] Chr2:215404616 [GRCh38]
Chr2:216269339 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6330G>C (p.Lys2110Asn) single nucleotide variant not provided [RCV003878713] Chr2:215372293 [GRCh38]
Chr2:216237016 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1001C>T (p.Thr334Met) single nucleotide variant not provided [RCV003739084] Chr2:215425129 [GRCh38]
Chr2:216289852 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2807G>A (p.Gly936Asp) single nucleotide variant not provided [RCV003573338] Chr2:215406417 [GRCh38]
Chr2:216271140 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1975A>G (p.Ile659Val) single nucleotide variant not provided [RCV003688631] Chr2:215410081 [GRCh38]
Chr2:216274804 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3183G>T (p.Glu1061Asp) single nucleotide variant not provided [RCV003691058] Chr2:215404459 [GRCh38]
Chr2:216269182 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2866A>G (p.Ile956Val) single nucleotide variant not provided [RCV003663066] Chr2:215406358 [GRCh38]
Chr2:216271081 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2262T>C (p.Tyr754=) single nucleotide variant not provided [RCV003713619] Chr2:215409600 [GRCh38]
Chr2:216274323 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5714T>G (p.Val1905Gly) single nucleotide variant not provided [RCV003690219] Chr2:215376671 [GRCh38]
Chr2:216241394 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3604+16A>C single nucleotide variant not provided [RCV003695679] Chr2:215397121 [GRCh38]
Chr2:216261844 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2557A>C (p.Ser853Arg) single nucleotide variant not provided [RCV003829146] Chr2:215407283 [GRCh38]
Chr2:216272006 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4894+17T>C single nucleotide variant not provided [RCV003544990] Chr2:215384003 [GRCh38]
Chr2:216248726 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5100G>A (p.Val1700=) single nucleotide variant not provided [RCV003547237] Chr2:215382276 [GRCh38]
Chr2:216246999 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.696C>T (p.Asn232=) single nucleotide variant not provided [RCV003828847] Chr2:215428328 [GRCh38]
Chr2:216293051 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4617T>C (p.Ser1539=) single nucleotide variant not provided [RCV003660033] Chr2:215384972 [GRCh38]
Chr2:216249695 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6346C>T (p.His2116Tyr) single nucleotide variant not provided [RCV003545562] Chr2:215372277 [GRCh38]
Chr2:216237000 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3717C>T (p.Pro1239=) single nucleotide variant not provided [RCV003544420] Chr2:215394607 [GRCh38]
Chr2:216259330 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.278-9del deletion not provided [RCV003660116] Chr2:215433470 [GRCh38]
Chr2:216298193 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7362+8C>G single nucleotide variant not provided [RCV003660144] Chr2:215361961 [GRCh38]
Chr2:216226684 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2835C>T (p.Asn945=) single nucleotide variant not provided [RCV003876319] Chr2:215406389 [GRCh38]
Chr2:216271112 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.3442G>A (p.Glu1148Lys) single nucleotide variant not provided [RCV003662771] Chr2:215397755 [GRCh38]
Chr2:216262478 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7018A>G (p.Arg2340Gly) single nucleotide variant not provided [RCV003878164] Chr2:215367863 [GRCh38]
Chr2:216232586 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.547+18C>G single nucleotide variant not provided [RCV003877876] Chr2:215431815 [GRCh38]
Chr2:216296538 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1217-14A>G single nucleotide variant not provided [RCV003824965] Chr2:215423540 [GRCh38]
Chr2:216288263 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6432G>A (p.Glu2144=) single nucleotide variant not provided [RCV003881173] Chr2:215372191 [GRCh38]
Chr2:216236914 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4C>T (p.Leu2Phe) single nucleotide variant not provided [RCV003544883] Chr2:215435799 [GRCh38]
Chr2:216300522 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1612G>C (p.Gly538Arg) single nucleotide variant not provided [RCV003689408] Chr2:215420736 [GRCh38]
Chr2:216285459 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3602C>T (p.Pro1201Leu) single nucleotide variant not provided [RCV003663552] Chr2:215397139 [GRCh38]
Chr2:216261862 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4343-20C>T single nucleotide variant not provided [RCV003878086] Chr2:215386978 [GRCh38]
Chr2:216251701 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2518+18C>G single nucleotide variant not provided [RCV003880025] Chr2:215408090 [GRCh38]
Chr2:216272813 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4350T>C (p.Asp1450=) single nucleotide variant not provided [RCV003825104] Chr2:215386951 [GRCh38]
Chr2:216251674 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.76G>A (p.Ala26Thr) single nucleotide variant not provided [RCV003713167] Chr2:215435727 [GRCh38]
Chr2:216300450 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.46T>G (p.Cys16Gly) single nucleotide variant not provided [RCV003545730] Chr2:215435757 [GRCh38]
Chr2:216300480 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1548T>C (p.Asp516=) single nucleotide variant not provided [RCV003834820] Chr2:215420800 [GRCh38]
Chr2:216285523 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3970A>C (p.Thr1324Pro) single nucleotide variant not provided [RCV003665340] Chr2:215393030 [GRCh38]
Chr2:216257753 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5623-10A>T single nucleotide variant not provided [RCV003548316] Chr2:215378272 [GRCh38]
Chr2:216242995 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.858C>T (p.Phe286=) single nucleotide variant not provided [RCV003810761] Chr2:215425272 [GRCh38]
Chr2:216289995 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.6051A>T (p.Pro2017=) single nucleotide variant not provided [RCV003557680] Chr2:215375320 [GRCh38]
Chr2:216240043 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1897C>T (p.Pro633Ser) single nucleotide variant not provided [RCV003835764] Chr2:215414881 [GRCh38]
Chr2:216279604 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.376A>G (p.Ile126Val) single nucleotide variant not provided [RCV003699543] Chr2:215433363 [GRCh38]
Chr2:216298086 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5449A>G (p.Thr1817Ala) single nucleotide variant not provided [RCV003659607] Chr2:215379303 [GRCh38]
Chr2:216244026 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5063T>C (p.Met1688Thr) single nucleotide variant not provided [RCV003549974] Chr2:215382313 [GRCh38]
Chr2:216247036 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.253T>G (p.Phe85Val) single nucleotide variant not provided [RCV003856717] Chr2:215434720 [GRCh38]
Chr2:216299443 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6631A>G (p.Thr2211Ala) single nucleotide variant not provided [RCV003816939] Chr2:215371992 [GRCh38]
Chr2:216236715 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.176A>T (p.Tyr59Phe) single nucleotide variant not provided [RCV003723340] Chr2:215434797 [GRCh38]
Chr2:216299520 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.72G>A (p.Thr24=) single nucleotide variant not provided [RCV003664458] Chr2:215435731 [GRCh38]
Chr2:216300454 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1927C>T (p.Leu643Phe) single nucleotide variant not provided [RCV003726810] Chr2:215414851 [GRCh38]
Chr2:216279574 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4352C>T (p.Ser1451Phe) single nucleotide variant not provided [RCV003855850] Chr2:215386949 [GRCh38]
Chr2:216251672 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7145-19G>C single nucleotide variant not provided [RCV003697973] Chr2:215365004 [GRCh38]
Chr2:216229727 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5978-5T>G single nucleotide variant not provided [RCV003702994] Chr2:215375398 [GRCh38]
Chr2:216240121 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5888-4_5888-2del deletion not provided [RCV003550220] Chr2:215375720..215375722 [GRCh38]
Chr2:216240443..216240445 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1232G>A (p.Arg411Gln) single nucleotide variant not provided [RCV003700594] Chr2:215423511 [GRCh38]
Chr2:216288234 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1580T>A (p.Val527Glu) single nucleotide variant not provided [RCV003726219] Chr2:215420768 [GRCh38]
Chr2:216285491 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1941+13C>T single nucleotide variant not provided [RCV003811005] Chr2:215414824 [GRCh38]
Chr2:216279547 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6098C>A (p.Ser2033Tyr) single nucleotide variant not provided [RCV003580402] Chr2:215375273 [GRCh38]
Chr2:216239996 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3605-13_3605-9del microsatellite not provided [RCV003725834] Chr2:215394728..215394732 [GRCh38]
Chr2:216259451..216259455 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3254-7C>T single nucleotide variant not provided [RCV003856208] Chr2:215399358 [GRCh38]
Chr2:216264081 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7362+2dup duplication not provided [RCV003664806] Chr2:215361966..215361967 [GRCh38]
Chr2:216226689..216226690 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4116C>T (p.Asp1372=) single nucleotide variant not provided [RCV003699733] Chr2:215391768 [GRCh38]
Chr2:216256491 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.382G>A (p.Ala128Thr) single nucleotide variant not provided [RCV003856702] Chr2:215433357 [GRCh38]
Chr2:216298080 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7019-7C>T single nucleotide variant not provided [RCV003725960] Chr2:215365637 [GRCh38]
Chr2:216230360 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5155G>C (p.Ala1719Pro) single nucleotide variant not provided [RCV003703394] Chr2:215382221 [GRCh38]
Chr2:216246944 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.201G>T (p.Arg67=) single nucleotide variant not provided [RCV003674124] Chr2:215434772 [GRCh38]
Chr2:216299495 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4059A>C (p.Thr1353=) single nucleotide variant not provided [RCV003855482] Chr2:215392941 [GRCh38]
Chr2:216257664 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2239G>A (p.Val747Met) single nucleotide variant not provided [RCV003817398] Chr2:215409623 [GRCh38]
Chr2:216274346 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.843C>T (p.Ser281=) single nucleotide variant not provided [RCV003816918] Chr2:215428181 [GRCh38]
Chr2:216292904 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2549A>C (p.Glu850Ala) single nucleotide variant not provided [RCV003668509] Chr2:215407291 [GRCh38]
Chr2:216272014 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2806G>A (p.Gly936Ser) single nucleotide variant not provided [RCV003813941] Chr2:215406418 [GRCh38]
Chr2:216271141 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7155G>A (p.Thr2385=) single nucleotide variant not provided [RCV003725715] Chr2:215364975 [GRCh38]
Chr2:216229698 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.5164+10C>T single nucleotide variant not provided [RCV003817023] Chr2:215382202 [GRCh38]
Chr2:216246925 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.854C>T (p.Pro285Leu) single nucleotide variant not provided [RCV003836864] Chr2:215425276 [GRCh38]
Chr2:216289999 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.556T>A (p.Cys186Ser) single nucleotide variant not provided [RCV003664074] Chr2:215430844 [GRCh38]
Chr2:216295567 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1917C>T (p.Ser639=) single nucleotide variant not provided [RCV003665149] Chr2:215414861 [GRCh38]
Chr2:216279584 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1788G>A (p.Glu596=) single nucleotide variant not provided [RCV003700387] Chr2:215419273 [GRCh38]
Chr2:216283996 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2658T>C (p.Asn886=) single nucleotide variant not provided [RCV003668960] Chr2:215407182 [GRCh38]
Chr2:216271905 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3156A>G (p.Pro1052=) single nucleotide variant not provided [RCV003855962] Chr2:215404486 [GRCh38]
Chr2:216269209 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.63G>A (p.Val21=) single nucleotide variant not provided [RCV003716732] Chr2:215435740 [GRCh38]
Chr2:216300463 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6511G>C (p.Val2171Leu) single nucleotide variant not provided [RCV003839807] Chr2:215372112 [GRCh38]
Chr2:216236835 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5344G>T (p.Gly1782Cys) single nucleotide variant not provided [RCV003673725] Chr2:215380901 [GRCh38]
Chr2:216245624 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6863G>C (p.Gly2288Ala) single nucleotide variant not provided [RCV003668277] Chr2:215368018 [GRCh38]
Chr2:216232741 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.136A>G (p.Ser46Gly) single nucleotide variant not provided [RCV003664424] Chr2:215435667 [GRCh38]
Chr2:216300390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5051-1G>A single nucleotide variant not provided [RCV003834141] Chr2:215382326 [GRCh38]
Chr2:216247049 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3427T>C (p.Leu1143=) single nucleotide variant not provided [RCV003836687] Chr2:215397770 [GRCh38]
Chr2:216262493 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5617C>T (p.Leu1873Phe) single nucleotide variant not provided [RCV003838560] Chr2:215379135 [GRCh38]
Chr2:216243858 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.844+15G>A single nucleotide variant not provided [RCV003855002] Chr2:215428165 [GRCh38]
Chr2:216292888 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4487G>A (p.Arg1496Gln) single nucleotide variant not provided [RCV003725225] Chr2:215386814 [GRCh38]
Chr2:216251537 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5601C>T (p.Ser1867=) single nucleotide variant not provided [RCV003814330] Chr2:215379151 [GRCh38]
Chr2:216243874 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3411C>G (p.Ser1137Arg) single nucleotide variant not provided [RCV003700375] Chr2:215397786 [GRCh38]
Chr2:216262509 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5099T>C (p.Val1700Ala) single nucleotide variant not provided [RCV003559471] Chr2:215382277 [GRCh38]
Chr2:216247000 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4218A>G (p.Ser1406=) single nucleotide variant not provided [RCV003724622] Chr2:215391666 [GRCh38]
Chr2:216256389 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.4506T>C (p.Asn1502=) single nucleotide variant not provided [RCV003724313] Chr2:215386795 [GRCh38]
Chr2:216251518 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.671C>G (p.Thr224Ser) single nucleotide variant not provided [RCV003837222] Chr2:215430729 [GRCh38]
Chr2:216295452 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1393+7T>A single nucleotide variant not provided [RCV003835119] Chr2:215423343 [GRCh38]
Chr2:216288066 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1977A>G (p.Ile659Met) single nucleotide variant not provided [RCV003671443] Chr2:215410079 [GRCh38]
Chr2:216274802 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7355C>T (p.Thr2452Ile) single nucleotide variant not provided [RCV003549327] Chr2:215361976 [GRCh38]
Chr2:216226699 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1794T>C (p.His598=) single nucleotide variant not provided [RCV003670996] Chr2:215419267 [GRCh38]
Chr2:216283990 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2123-10G>C single nucleotide variant not provided [RCV003723856] Chr2:215409749 [GRCh38]
Chr2:216274472 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3162G>A (p.Arg1054=) single nucleotide variant not provided [RCV003672437] Chr2:215404480 [GRCh38]
Chr2:216269203 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5888-5C>G single nucleotide variant not provided [RCV003550221] Chr2:215375723 [GRCh38]
Chr2:216240446 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2123-17T>C single nucleotide variant not provided [RCV003813765] Chr2:215409756 [GRCh38]
Chr2:216274479 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7145-14G>C single nucleotide variant not provided [RCV003559596] Chr2:215364999 [GRCh38]
Chr2:216229722 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3793C>T (p.Pro1265Ser) single nucleotide variant not provided [RCV003702044] Chr2:215394531 [GRCh38]
Chr2:216259254 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2593G>A (p.Val865Ile) single nucleotide variant not provided [RCV003819627] Chr2:215407247 [GRCh38]
Chr2:216271970 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5939A>G (p.Asn1980Ser) single nucleotide variant not provided [RCV003565797] Chr2:215375667 [GRCh38]
Chr2:216240390 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4331G>C (p.Arg1444Thr) single nucleotide variant not provided [RCV003822963] Chr2:215388223 [GRCh38]
Chr2:216252946 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2814T>A (p.Arg938=) single nucleotide variant not provided [RCV003705950] Chr2:215406410 [GRCh38]
Chr2:216271133 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1144G>A (p.Gly382Arg) single nucleotide variant not provided [RCV003710333] Chr2:215424218 [GRCh38]
Chr2:216288941 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4342+2T>C single nucleotide variant not provided [RCV003542784] Chr2:215388210 [GRCh38]
Chr2:216252933 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1729G>A (p.Glu577Lys) single nucleotide variant not provided [RCV003550484] Chr2:215419332 [GRCh38]
Chr2:216284055 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.95A>C (p.Gln32Pro) single nucleotide variant not provided [RCV003866696] Chr2:215435708 [GRCh38]
Chr2:216300431 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5090T>C (p.Val1697Ala) single nucleotide variant not provided [RCV003675944] Chr2:215382286 [GRCh38]
Chr2:216247009 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3850G>A (p.Gly1284Ser) single nucleotide variant not provided [RCV003728716] Chr2:215393150 [GRCh38]
Chr2:216257873 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2403G>C (p.Leu801Phe) single nucleotide variant not provided [RCV003564631] Chr2:215408323 [GRCh38]
Chr2:216273046 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1536G>A (p.Ser512=) single nucleotide variant not provided [RCV003733838] Chr2:215422101 [GRCh38]
Chr2:216286824 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6982G>A (p.Gly2328Ser) single nucleotide variant not provided [RCV003843979] Chr2:215367899 [GRCh38]
Chr2:216232622 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.548-9T>G single nucleotide variant not provided [RCV003542687] Chr2:215430861 [GRCh38]
Chr2:216295584 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.761A>G (p.Asn254Ser) single nucleotide variant not provided [RCV003864263] Chr2:215428263 [GRCh38]
Chr2:216292986 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1328T>G (p.Met443Arg) single nucleotide variant not provided [RCV003542168] Chr2:215423415 [GRCh38]
Chr2:216288138 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3563C>A (p.Thr1188Asn) single nucleotide variant not provided [RCV003843498] Chr2:215397178 [GRCh38]
Chr2:216261901 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4729+19A>G single nucleotide variant not provided [RCV003863340] Chr2:215384841 [GRCh38]
Chr2:216249564 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4069+3G>A single nucleotide variant not provided [RCV003551015] Chr2:215392928 [GRCh38]
Chr2:216257651 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.231T>C (p.Thr77=) single nucleotide variant not provided [RCV003706502] Chr2:215434742 [GRCh38]
Chr2:216299465 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6479T>C (p.Ile2160Thr) single nucleotide variant not provided [RCV003734131] Chr2:215372144 [GRCh38]
Chr2:216236867 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.222G>A (p.Leu74=) single nucleotide variant not provided [RCV003567922] Chr2:215434751 [GRCh38]
Chr2:216299474 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5197G>A (p.Asp1733Asn) single nucleotide variant not provided [RCV003674538] Chr2:215381048 [GRCh38]
Chr2:216245771 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6951A>G (p.Glu2317=) single nucleotide variant not provided [RCV003562159] Chr2:215367930 [GRCh38]
Chr2:216232653 [GRCh37]
Chr2:2q35		 benign
NM_212482.4(FN1):c.7168G>A (p.Gly2390Arg) single nucleotide variant not provided [RCV003730811] Chr2:215364962 [GRCh38]
Chr2:216229685 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2140G>C (p.Glu714Gln) single nucleotide variant not provided [RCV003553779] Chr2:215409722 [GRCh38]
Chr2:216274445 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.416-19T>A single nucleotide variant not provided [RCV003556784] Chr2:215431983 [GRCh38]
Chr2:216296706 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2485G>A (p.Val829Ile) single nucleotide variant not provided [RCV003707360] Chr2:215408141 [GRCh38]
Chr2:216272864 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.685+1G>A single nucleotide variant not provided [RCV003704912] Chr2:215430714 [GRCh38]
Chr2:216295437 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3254-11C>G single nucleotide variant not provided [RCV003858128] Chr2:215399362 [GRCh38]
Chr2:216264085 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4696G>A (p.Val1566Met) single nucleotide variant not provided [RCV003681536] Chr2:215384893 [GRCh38]
Chr2:216249616 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1879C>G (p.Pro627Ala) single nucleotide variant not provided [RCV003706262] Chr2:215414899 [GRCh38]
Chr2:216279622 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3863C>T (p.Thr1288Ile) single nucleotide variant not provided [RCV003820815] Chr2:215393137 [GRCh38]
Chr2:216257860 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6707C>A (p.Pro2236His) single nucleotide variant not provided [RCV003733273] Chr2:215371916 [GRCh38]
Chr2:216236639 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1404A>G (p.Glu468=) single nucleotide variant not provided [RCV003680524] Chr2:215422233 [GRCh38]
Chr2:216286956 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1819+12T>C single nucleotide variant not provided [RCV003542199] Chr2:215419230 [GRCh38]
Chr2:216283953 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.404G>A (p.Cys135Tyr) single nucleotide variant not provided [RCV003542777] Chr2:215433335 [GRCh38]
Chr2:216298058 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5957T>C (p.Val1986Ala) single nucleotide variant not provided [RCV003562932] Chr2:215375649 [GRCh38]
Chr2:216240372 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6160C>T (p.Leu2054=) single nucleotide variant not provided [RCV003680915] Chr2:215373409 [GRCh38]
Chr2:216238132 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.676A>C (p.Thr226Pro) single nucleotide variant not provided [RCV003682615] Chr2:215430724 [GRCh38]
Chr2:216295447 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6811A>T (p.Arg2271Trp) single nucleotide variant not provided [RCV003566173] Chr2:215370336 [GRCh38]
Chr2:216235059 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4759G>A (p.Val1587Met) single nucleotide variant not provided [RCV003566183] Chr2:215384155 [GRCh38]
Chr2:216248878 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4317A>G (p.Thr1439=) single nucleotide variant not provided [RCV003568061] Chr2:215388237 [GRCh38]
Chr2:216252960 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7346A>G (p.His2449Arg) single nucleotide variant not provided [RCV003722124] Chr2:215361985 [GRCh38]
Chr2:216226708 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6174C>T (p.Thr2058=) single nucleotide variant not provided [RCV003872513] Chr2:215373395 [GRCh38]
Chr2:216238118 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1217-8C>A single nucleotide variant not provided [RCV003820834] Chr2:215423534 [GRCh38]
Chr2:216288257 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.351C>G (p.Asp117Glu) single nucleotide variant not provided [RCV003731171] Chr2:215433388 [GRCh38]
Chr2:216298111 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4826T>G (p.Val1609Gly) single nucleotide variant FN1-related condition [RCV003939245]|not provided [RCV003867347] Chr2:215384088 [GRCh38]
Chr2:216248811 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6610C>A (p.Gln2204Lys) single nucleotide variant not provided [RCV003720562] Chr2:215372013 [GRCh38]
Chr2:216236736 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7427G>A (p.Arg2476Gln) single nucleotide variant not provided [RCV003737478] Chr2:215361562 [GRCh38]
Chr2:216226285 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1553G>A (p.Cys518Tyr) single nucleotide variant not provided [RCV003866876] Chr2:215420795 [GRCh38]
Chr2:216285518 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6468G>A (p.Thr2156=) single nucleotide variant not provided [RCV003722460] Chr2:215372155 [GRCh38]
Chr2:216236878 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3838G>A (p.Asp1280Asn) single nucleotide variant not provided [RCV003722400] Chr2:215393162 [GRCh38]
Chr2:216257885 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4892C>T (p.Thr1631Ile) single nucleotide variant not provided [RCV003550461] Chr2:215384022 [GRCh38]
Chr2:216248745 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4894+13A>C single nucleotide variant not provided [RCV003557128] Chr2:215384007 [GRCh38]
Chr2:216248730 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3771C>G (p.Val1257=) single nucleotide variant not provided [RCV003842089] Chr2:215394553 [GRCh38]
Chr2:216259276 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1997A>T (p.Tyr666Phe) single nucleotide variant not provided [RCV003542908] Chr2:215410059 [GRCh38]
Chr2:216274782 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3221A>G (p.Glu1074Gly) single nucleotide variant not provided [RCV003819804] Chr2:215404421 [GRCh38]
Chr2:216269144 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2300-18T>C single nucleotide variant not provided [RCV003705505] Chr2:215408444 [GRCh38]
Chr2:216273167 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2489G>A (p.Arg830His) single nucleotide variant not provided [RCV003733998] Chr2:215408137 [GRCh38]
Chr2:216272860 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4992A>G (p.Arg1664=) single nucleotide variant not provided [RCV003554655] Chr2:215383386 [GRCh38]
Chr2:216248109 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5755A>T (p.Thr1919Ser) single nucleotide variant not provided [RCV003677873] Chr2:215376630 [GRCh38]
Chr2:216241353 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4895-15T>C single nucleotide variant not provided [RCV003710811] Chr2:215383498 [GRCh38]
Chr2:216248221 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.264G>A (p.Glu88=) single nucleotide variant not provided [RCV003710898] Chr2:215434709 [GRCh38]
Chr2:216299432 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3189C>A (p.Thr1063=) single nucleotide variant not provided [RCV003727547] Chr2:215404453 [GRCh38]
Chr2:216269176 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6878C>T (p.Thr2293Met) single nucleotide variant not provided [RCV003550991] Chr2:215368003 [GRCh38]
Chr2:216232726 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7134G>A (p.Lys2378=) single nucleotide variant not provided [RCV003866678] Chr2:215365515 [GRCh38]
Chr2:216230238 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4591T>C (p.Leu1531=) single nucleotide variant not provided [RCV003872113] Chr2:215386710 [GRCh38]
Chr2:216251433 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2571C>T (p.Asn857=) single nucleotide variant not provided [RCV003868909] Chr2:215407269 [GRCh38]
Chr2:216271992 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5128G>A (p.Gly1710Arg) single nucleotide variant not provided [RCV003872266] Chr2:215382248 [GRCh38]
Chr2:216246971 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.591C>T (p.Val197=) single nucleotide variant not provided [RCV003720155] Chr2:215430809 [GRCh38]
Chr2:216295532 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2179T>C (p.Ser727Pro) single nucleotide variant not provided [RCV003718860] Chr2:215409683 [GRCh38]
Chr2:216274406 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4894+13A>G single nucleotide variant not provided [RCV003870565] Chr2:215384007 [GRCh38]
Chr2:216248730 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5623-10A>G single nucleotide variant not provided [RCV003719894] Chr2:215378272 [GRCh38]
Chr2:216242995 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7297C>T (p.Pro2433Ser) single nucleotide variant not provided [RCV003685866] Chr2:215362034 [GRCh38]
Chr2:216226757 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.218C>T (p.Ala73Val) single nucleotide variant not provided [RCV003553563] Chr2:215434755 [GRCh38]
Chr2:216299478 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6563A>T (p.His2188Leu) single nucleotide variant not provided [RCV003737962] Chr2:215372060 [GRCh38]
Chr2:216236783 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.855C>T (p.Pro285=) single nucleotide variant not provided [RCV003737473] Chr2:215425275 [GRCh38]
Chr2:216289998 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4650G>A (p.Ala1550=) single nucleotide variant not provided [RCV003728590] Chr2:215384939 [GRCh38]
Chr2:216249662 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2899C>T (p.Leu967=) single nucleotide variant not provided [RCV003730062] Chr2:215406325 [GRCh38]
Chr2:216271048 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3736A>G (p.Ser1246Gly) single nucleotide variant not provided [RCV003685387] Chr2:215394588 [GRCh38]
Chr2:216259311 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2429-5C>T single nucleotide variant not provided [RCV003685392] Chr2:215408202 [GRCh38]
Chr2:216272925 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2429-9C>T single nucleotide variant not provided [RCV003685393] Chr2:215408206 [GRCh38]
Chr2:216272929 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.4341A>G (p.Thr1447=) single nucleotide variant not provided [RCV003565284] Chr2:215388213 [GRCh38]
Chr2:216252936 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4343-16C>G single nucleotide variant not provided [RCV003870426] Chr2:215386974 [GRCh38]
Chr2:216251697 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2791G>A (p.Glu931Lys) single nucleotide variant not provided [RCV003727411] Chr2:215406433 [GRCh38]
Chr2:216271156 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5585C>A (p.Ala1862Asp) single nucleotide variant not provided [RCV003870114] Chr2:215379167 [GRCh38]
Chr2:216243890 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.3414C>T (p.Ile1138=) single nucleotide variant not provided [RCV003736144] Chr2:215397783 [GRCh38]
Chr2:216262506 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2300-14_2300-10del microsatellite not provided [RCV003685557] Chr2:215408436..215408440 [GRCh38]
Chr2:216273159..216273163 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5354C>T (p.Pro1785Leu) single nucleotide variant not provided [RCV003854239] Chr2:215380891 [GRCh38]
Chr2:216245614 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1394-17T>C single nucleotide variant not provided [RCV003848195] Chr2:215422260 [GRCh38]
Chr2:216286983 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.156T>C (p.Cys52=) single nucleotide variant not provided [RCV003706041] Chr2:215434817 [GRCh38]
Chr2:216299540 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3348+11G>C single nucleotide variant not provided [RCV003860350] Chr2:215399246 [GRCh38]
Chr2:216263969 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.7038T>G (p.Gly2346=) single nucleotide variant not provided [RCV003552370] Chr2:215365611 [GRCh38]
Chr2:216230334 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5437A>C (p.Ile1813Leu) single nucleotide variant not provided [RCV003679335] Chr2:215379315 [GRCh38]
Chr2:216244038 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7252-8TC[2] microsatellite not provided [RCV003554404] Chr2:215362082..215362083 [GRCh38]
Chr2:216226805..216226806 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.5630C>T (p.Thr1877Ile) single nucleotide variant not provided [RCV003859204] Chr2:215378255 [GRCh38]
Chr2:216242978 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4053A>T (p.Thr1351=) single nucleotide variant not provided [RCV003852960] Chr2:215392947 [GRCh38]
Chr2:216257670 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6832GTT[1] (p.Val2279del) microsatellite not provided [RCV003823595] Chr2:215370310..215370312 [GRCh38]
Chr2:216235033..216235035 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1245C>T (p.Ser415=) single nucleotide variant not provided [RCV003865084] Chr2:215423498 [GRCh38]
Chr2:216288221 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3902C>T (p.Thr1301Ile) single nucleotide variant not provided [RCV003858209] Chr2:215393098 [GRCh38]
Chr2:216257821 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.6604A>G (p.Thr2202Ala) single nucleotide variant not provided [RCV003679764] Chr2:215372019 [GRCh38]
Chr2:216236742 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.584A>G (p.Tyr195Cys) single nucleotide variant not provided [RCV003670583] Chr2:215430816 [GRCh38]
Chr2:216295539 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.2457G>A (p.Val819=) single nucleotide variant not provided [RCV003840621] Chr2:215408169 [GRCh38]
Chr2:216272892 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2397G>C (p.Gln799His) single nucleotide variant not provided [RCV003840611] Chr2:215408329 [GRCh38]
Chr2:216273052 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.19C>T (p.Pro7Ser) single nucleotide variant not provided [RCV003676896] Chr2:215435784 [GRCh38]
Chr2:216300507 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.25C>A (p.Leu9Met) single nucleotide variant not provided [RCV003707848] Chr2:215435778 [GRCh38]
Chr2:216300501 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+20A>G single nucleotide variant not provided [RCV003675895] Chr2:215361949 [GRCh38]
Chr2:216226672 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6715-12C>T single nucleotide variant not provided [RCV003822481] Chr2:215370444 [GRCh38]
Chr2:216235167 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1941T>G (p.Pro647=) single nucleotide variant not provided [RCV003731245] Chr2:215414837 [GRCh38]
Chr2:216279560 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.242G>A (p.Gly81Glu) single nucleotide variant not provided [RCV003862728] Chr2:215434731 [GRCh38]
Chr2:216299454 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.1490C>T (p.Thr497Met) single nucleotide variant not provided [RCV003822006] Chr2:215422147 [GRCh38]
Chr2:216286870 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7253G>A (p.Gly2418Asp) single nucleotide variant not provided [RCV003818400] Chr2:215362078 [GRCh38]
Chr2:216226801 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4927G>A (p.Asp1643Asn) single nucleotide variant not provided [RCV003819490] Chr2:215383451 [GRCh38]
Chr2:216248174 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2359A>T (p.Ile787Phe) single nucleotide variant not provided [RCV003554640] Chr2:215408367 [GRCh38]
Chr2:216273090 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6248A>G (p.Asp2083Gly) single nucleotide variant not provided [RCV003866258] Chr2:215372375 [GRCh38]
Chr2:216237098 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.864T>C (p.Asp288=) single nucleotide variant not provided [RCV003556569] Chr2:215425266 [GRCh38]
Chr2:216289989 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1206A>C (p.Thr402=) single nucleotide variant not provided [RCV003864678] Chr2:215424156 [GRCh38]
Chr2:216288879 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1206A>G (p.Thr402=) single nucleotide variant not provided [RCV003677800] Chr2:215424156 [GRCh38]
Chr2:216288879 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.1816C>G (p.Pro606Ala) single nucleotide variant not provided [RCV003542075] Chr2:215419245 [GRCh38]
Chr2:216283968 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.7362+4A>C single nucleotide variant not provided [RCV003564461] Chr2:215361965 [GRCh38]
Chr2:216226688 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.888G>A (p.Pro296=) single nucleotide variant not provided [RCV003733163] Chr2:215425242 [GRCh38]
Chr2:216289965 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6158-18G>A single nucleotide variant not provided [RCV003676608] Chr2:215373429 [GRCh38]
Chr2:216238152 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.3253+4A>C single nucleotide variant not provided [RCV003887722] Chr2:215404385 [GRCh38]
Chr2:216269108 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4449T>C (p.His1483=) single nucleotide variant FN1-related condition [RCV003963987] Chr2:215386852 [GRCh38]
Chr2:216251575 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.2451G>A (p.Thr817=) single nucleotide variant FN1-related condition [RCV003971634] Chr2:215408175 [GRCh38]
Chr2:216272898 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6321A>C (p.Thr2107=) single nucleotide variant FN1-related condition [RCV003951581] Chr2:215372302 [GRCh38]
Chr2:216237025 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.6282C>T (p.Pro2094=) single nucleotide variant FN1-related condition [RCV003976844] Chr2:215372341 [GRCh38]
Chr2:216237064 [GRCh37]
Chr2:2q35		 likely benign
NM_212482.4(FN1):c.808T>C (p.Cys270Arg) single nucleotide variant FN1-related condition [RCV003934359] Chr2:215428216 [GRCh38]
Chr2:216292939 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4067C>T (p.Thr1356Met) single nucleotide variant Inborn genetic diseases [RCV003342480]|not provided [RCV003777518] Chr2:215392933 [GRCh38]
Chr2:216257656 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.5666C>T (p.Thr1889Ile) single nucleotide variant Glomerulopathy with fibronectin deposits 2 [RCV003337838] Chr2:215378219 [GRCh38]
Chr2:216242942 [GRCh37]
Chr2:2q35		 uncertain significance
NM_212482.4(FN1):c.4094G>A (p.Arg1365Gln) single nucleotide variant Inborn genetic diseases [RCV003342439] Chr2:215391790 [GRCh38]
Chr2:216256513 [GRCh37]
Chr2:2q35		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA21924268
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA21501518

Predicted Target Of
Summary Value
Count of predictions:7714
Count of miRNA genes:1102
Interacting mature miRNAs:1379
Transcripts:ENST00000323926, ENST00000336916, ENST00000345488, ENST00000346544, ENST00000354785, ENST00000356005, ENST00000357009, ENST00000357867, ENST00000359671, ENST00000421182, ENST00000426059, ENST00000432072, ENST00000438981, ENST00000443816, ENST00000446046, ENST00000456923, ENST00000460217, ENST00000461974, ENST00000469569, ENST00000471193, ENST00000473614, ENST00000474036, ENST00000480024, ENST00000480737, ENST00000485567, ENST00000490833, ENST00000492816, ENST00000494446, ENST00000496542, ENST00000498719
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.

Markers in Region
D1S249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371205,715,478 - 205,715,654UniSTSGRCh37
Build 361203,982,101 - 203,982,277RGDNCBI36
Celera1178,851,716 - 178,851,888RGD
Cytogenetic Map1q31UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map1q32.1UniSTS
HuRef1176,880,187 - 176,880,359UniSTS
Marshfield Genetic Map1220.65RGD
Marshfield Genetic Map1220.65UniSTS
Genethon Genetic Map1225.1UniSTS
deCODE Assembly Map1207.07UniSTS
GeneMap99-GB4 RH Map1682.41UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11796.4UniSTS
D1S2891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371208,452,536 - 208,452,760UniSTSGRCh37
Build 361206,519,159 - 206,519,383RGDNCBI36
Celera1181,682,967 - 181,683,240RGD
Cytogenetic Map2q34UniSTS
HuRef1179,127,088 - 179,127,361UniSTS
Marshfield Genetic Map1224.5UniSTS
Marshfield Genetic Map1224.5RGD
Genethon Genetic Map1228.7UniSTS
deCODE Assembly Map1210.55UniSTS
Stanford-G3 RH Map18138.0UniSTS
GeneMap99-GB4 RH Map1689.26UniSTS
Whitehead-YAC Contig Map1 UniSTS
NCBI RH Map11868.8UniSTS
GeneMap99-G3 RH Map18094.0UniSTS
D1S2872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371204,825,425 - 204,825,611UniSTSGRCh37
Build 361203,092,048 - 203,092,234RGDNCBI36
Celera1177,960,542 - 177,960,728RGD
Cytogenetic Map2q34UniSTS
Cytogenetic Map1q32.1UniSTS
HuRef1175,990,641 - 175,990,833UniSTS
Marshfield Genetic Map1220.65UniSTS
Marshfield Genetic Map1220.65RGD
Genethon Genetic Map1224.6UniSTS
TNG Radiation Hybrid Map1101066.0UniSTS
GeneMap99-GB4 RH Map1675.75UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2782  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,308,285 - 35,308,461UniSTSGRCh37
GRCh371207,796,816 - 207,797,111UniSTSGRCh37
Build 361205,863,439 - 205,863,734RGDNCBI36
Celera1181,027,303 - 181,027,594RGD
Celera2120,507,873 - 20,508,049UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map2q34UniSTS
HuRef1178,470,896 - 178,471,185UniSTS
Marshfield Genetic Map1222.84UniSTS
Marshfield Genetic Map1222.84RGD
Genethon Genetic Map1227.3UniSTS
deCODE Assembly Map1209.84UniSTS
Whitehead-YAC Contig Map1 UniSTS
WIAF-2175  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,225,243 - 216,225,432UniSTSGRCh37
Build 362215,933,488 - 215,933,677RGDNCBI36
Celera2209,994,874 - 209,995,063RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q34UniSTS
HuRef2208,082,275 - 208,082,464UniSTS
GeneMap99-GB4 RH Map2660.82UniSTS
SHGC-33209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,251,314 - 216,251,463UniSTSGRCh37
Build 362215,959,559 - 215,959,708RGDNCBI36
Celera2210,020,927 - 210,021,076RGD
Cytogenetic Map2q34UniSTS
HuRef2208,108,356 - 208,108,505UniSTS
GeneMap99-GB4 RH Map2660.82UniSTS
Whitehead-RH Map2986.5UniSTS
GeneMap99-G3 RH Map29354.0UniSTS
RH102231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,231,389 - 216,231,531UniSTSGRCh37
Build 362215,939,634 - 215,939,776RGDNCBI36
Celera2210,001,023 - 210,001,165RGD
Cytogenetic Map2q34UniSTS
HuRef2208,088,424 - 208,088,566UniSTS
GeneMap99-GB4 RH Map2666.26UniSTS
RH102905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,244,763 - 216,244,886UniSTSGRCh37
Build 362215,953,008 - 215,953,131RGDNCBI36
Celera2210,014,379 - 210,014,502RGD
Cytogenetic Map2q34UniSTS
HuRef2208,101,763 - 208,101,886UniSTS
GeneMap99-GB4 RH Map2668.13UniSTS
SHGC-83082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,263,013 - 216,263,361UniSTSGRCh37
Build 362215,971,258 - 215,971,606RGDNCBI36
Celera2210,032,621 - 210,032,969RGD
Cytogenetic Map2q34UniSTS
HuRef2208,120,036 - 208,120,384UniSTS
TNG Radiation Hybrid Map2119999.0UniSTS
GDB:181245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,226,048 - 216,226,217UniSTSGRCh37
Build 362215,934,293 - 215,934,462RGDNCBI36
Celera2209,995,679 - 209,995,848RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q34UniSTS
HuRef2208,083,080 - 208,083,249UniSTS
PMC115222P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,243,857 - 216,243,966UniSTSGRCh37
Build 362215,952,102 - 215,952,211RGDNCBI36
Celera2210,013,477 - 210,013,586RGD
Cytogenetic Map2q34UniSTS
HuRef2208,100,861 - 208,100,970UniSTS
RH78451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,251,541 - 216,251,671UniSTSGRCh37
Build 362215,959,786 - 215,959,916RGDNCBI36
Celera2210,021,154 - 210,021,284RGD
Cytogenetic Map2q34UniSTS
HuRef2208,108,583 - 208,108,713UniSTS
SHGC-11640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,233,580 - 216,233,790UniSTSGRCh37
Build 362215,941,825 - 215,942,035RGDNCBI36
Celera2210,003,214 - 210,003,424RGD
Cytogenetic Map2q34UniSTS
HuRef2208,090,615 - 208,090,825UniSTS
TNG Radiation Hybrid Map2119993.0UniSTS
D2S2635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,226,154 - 216,226,258UniSTSGRCh37
Build 362215,934,399 - 215,934,503RGDNCBI36
Celera2209,995,785 - 209,995,889RGD
Cytogenetic Map2q34-q35UniSTS
Cytogenetic Map2q34UniSTS
HuRef2208,083,186 - 208,083,290UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH47963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,260,315 - 216,260,480UniSTSGRCh37
Build 362215,968,560 - 215,968,725RGDNCBI36
Celera2210,029,923 - 210,030,088RGD
Cytogenetic Map2q34UniSTS
HuRef2208,117,340 - 208,117,505UniSTS
GeneMap99-GB4 RH Map2660.82UniSTS
NCBI RH Map21692.0UniSTS
SHGC-57713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,249,678 - 216,249,881UniSTSGRCh37
Build 362215,957,923 - 215,958,126RGDNCBI36
Celera2210,019,294 - 210,019,497RGD
Cytogenetic Map2q34UniSTS
HuRef2208,106,678 - 208,106,881UniSTS
TNG Radiation Hybrid Map2119988.0UniSTS
FN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,236,705 - 216,237,054UniSTSGRCh37
GRCh372216,225,748 - 216,226,300UniSTSGRCh37
Build 362215,944,950 - 215,945,299RGDNCBI36
Celera2209,995,379 - 209,995,931UniSTS
Celera2210,006,338 - 210,006,687RGD
HuRef2208,093,730 - 208,094,079UniSTS
HuRef2208,082,780 - 208,083,332UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D10S16   No map positions available.
GDB:344700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,236,637 - 216,238,085UniSTSGRCh37
Celera2210,006,270 - 210,007,718UniSTS
Cytogenetic Map2q34UniSTS
HuRef2208,093,662 - 208,095,110UniSTS
RH98726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,240,382 - 216,241,303UniSTSGRCh37
Celera2210,010,010 - 210,010,931UniSTS
Cytogenetic Map2q34UniSTS
HuRef2208,097,392 - 208,098,313UniSTS
GeneMap99-GB4 RH Map2661.72UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS
FN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372216,236,705 - 216,237,054UniSTSGRCh37
GRCh372216,225,748 - 216,226,300UniSTSGRCh37
Build 362215,944,950 - 215,945,299RGDNCBI36
Celera2209,995,379 - 209,995,931UniSTS
Celera2210,006,338 - 210,006,687RGD
HuRef2208,093,730 - 208,094,079UniSTS
HuRef2208,082,780 - 208,083,332UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 343 1228 46 30 6 28 637 276 31 22 50 287 5 3 590 1
Medium 1983 1017 1552 577 483 435 3374 1582 2985 337 1302 1247 152 1201 1888 2
Low 71 575 123 15 949 1 343 336 691 59 98 72 14 310 3
Below cutoff 28 165 3 493 1 2 2 6 1 7 7 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_054034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB191261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF550582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI033037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ320525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ320526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ320527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ535086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ849445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ005645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA422234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA851446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF550135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M15801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U41724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U41850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323926   ⟹   ENSP00000323534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,454 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000336916   ⟹   ENSP00000338200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,454 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000354785   ⟹   ENSP00000346839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,865 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000356005   ⟹   ENSP00000348285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,866 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000357867   ⟹   ENSP00000350534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,454 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000359671   ⟹   ENSP00000352696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,458 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000421182   ⟹   ENSP00000394423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,440 - 215,436,067 (-)Ensembl
RefSeq Acc Id: ENST00000426059   ⟹   ENSP00000398907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,414,661 - 215,436,073 (-)Ensembl
RefSeq Acc Id: ENST00000432072   ⟹   ENSP00000399538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,865 - 215,436,067 (-)Ensembl
RefSeq Acc Id: ENST00000438981   ⟹   ENSP00000392565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,371,909 - 215,375,689 (-)Ensembl
RefSeq Acc Id: ENST00000443816   ⟹   ENSP00000415018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,862 - 215,436,073 (-)Ensembl
RefSeq Acc Id: ENST00000446046   ⟹   ENSP00000410422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,862 - 215,436,068 (-)Ensembl
RefSeq Acc Id: ENST00000456923   ⟹   ENSP00000416139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,361,147 - 215,393,147 (-)Ensembl
RefSeq Acc Id: ENST00000460217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,371,864 - 215,375,725 (-)Ensembl
RefSeq Acc Id: ENST00000461974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,370,343 - 215,372,482 (-)Ensembl
RefSeq Acc Id: ENST00000469569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,364,370 - 215,365,517 (-)Ensembl
RefSeq Acc Id: ENST00000471193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,408,319 - 215,409,950 (-)Ensembl
RefSeq Acc Id: ENST00000473614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,364,667 - 215,365,753 (-)Ensembl
RefSeq Acc Id: ENST00000474036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,375,633 - 215,381,329 (-)Ensembl
RefSeq Acc Id: ENST00000480024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,367,679 - 215,370,520 (-)Ensembl
RefSeq Acc Id: ENST00000480737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,382,159 - 215,384,080 (-)Ensembl
RefSeq Acc Id: ENST00000485567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,370,380 - 215,372,439 (-)Ensembl
RefSeq Acc Id: ENST00000490833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,379,205 - 215,383,483 (-)Ensembl
RefSeq Acc Id: ENST00000492816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,862 - 215,393,721 (-)Ensembl
RefSeq Acc Id: ENST00000494446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,361,341 - 215,365,676 (-)Ensembl
RefSeq Acc Id: ENST00000496542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,419,289 - 215,421,270 (-)Ensembl
RefSeq Acc Id: ENST00000498719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2215,360,866 - 215,363,640 (-)Ensembl
RefSeq Acc Id: NM_001306129   ⟹   NP_001293058
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
CHM1_12216,231,063 - 216,306,652 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306130   ⟹   NP_001293059
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
CHM1_12216,231,063 - 216,306,652 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306131   ⟹   NP_001293060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
CHM1_12216,231,063 - 216,306,652 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001306132   ⟹   NP_001293061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
CHM1_12216,231,063 - 216,306,652 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365517   ⟹   NP_001352446
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365518   ⟹   NP_001352447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365519   ⟹   NP_001352448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365520   ⟹   NP_001352449
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365521   ⟹   NP_001352450
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365522   ⟹   NP_001352451
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365523   ⟹   NP_001352452
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365524   ⟹   NP_001352453
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002026   ⟹   NP_002017
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,933,422 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,231,063 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_054034   ⟹   NP_473375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,414,656 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,987,629 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,285,256 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,899,693 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_212474   ⟹   NP_997639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,933,422 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,231,063 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_212476   ⟹   NP_997641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,933,422 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,231,063 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_212478   ⟹   NP_997643
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,933,422 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,231,063 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
RefSeq Acc Id: NM_212482   ⟹   NP_997647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,360,865 - 215,436,068 (-)NCBI
GRCh372216,225,177 - 216,300,890 (-)NCBI
Build 362215,933,422 - 216,009,036 (-)NCBI Archive
HuRef2208,082,209 - 208,158,070 (-)ENTREZGENE
CHM1_12216,231,063 - 216,306,650 (-)NCBI
T2T-CHM13v2.02215,845,895 - 215,921,094 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001293058 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293059 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293061 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352446 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352447 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352448 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352449 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352450 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352451 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352452 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352453 (Get FASTA)   NCBI Sequence Viewer  
  NP_002017 (Get FASTA)   NCBI Sequence Viewer  
  NP_473375 (Get FASTA)   NCBI Sequence Viewer  
  NP_997639 (Get FASTA)   NCBI Sequence Viewer  
  NP_997641 (Get FASTA)   NCBI Sequence Viewer  
  NP_997643 (Get FASTA)   NCBI Sequence Viewer  
  NP_997647 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52461 (Get FASTA)   NCBI Sequence Viewer  
  AAA52462 (Get FASTA)   NCBI Sequence Viewer  
  AAA52463 (Get FASTA)   NCBI Sequence Viewer  
  AAA52464 (Get FASTA)   NCBI Sequence Viewer  
  AAA52465 (Get FASTA)   NCBI Sequence Viewer  
  AAA52466 (Get FASTA)   NCBI Sequence Viewer  
  AAA53376 (Get FASTA)   NCBI Sequence Viewer  
  AAA58483 (Get FASTA)   NCBI Sequence Viewer  
  AAD00013 (Get FASTA)   NCBI Sequence Viewer  
  AAD00014 (Get FASTA)   NCBI Sequence Viewer  
  AAD00015 (Get FASTA)   NCBI Sequence Viewer  
  AAD00017 (Get FASTA)   NCBI Sequence Viewer  
  AAD00018 (Get FASTA)   NCBI Sequence Viewer  
  AAD00019 (Get FASTA)   NCBI Sequence Viewer  
  AAD04751 (Get FASTA)   NCBI Sequence Viewer  
  AAD09448 (Get FASTA)   NCBI Sequence Viewer  
  AAD09449 (Get FASTA)   NCBI Sequence Viewer  
  AAD09450 (Get FASTA)   NCBI Sequence Viewer  
  AAD10853 (Get FASTA)   NCBI Sequence Viewer  
  AAD11500 (Get FASTA)   NCBI Sequence Viewer  
  AAG30571 (Get FASTA)   NCBI Sequence Viewer  
  AAG35520 (Get FASTA)   NCBI Sequence Viewer  
  AAH05858 (Get FASTA)   NCBI Sequence Viewer  
  AAH16875 (Get FASTA)   NCBI Sequence Viewer  
  AAI17177 (Get FASTA)   NCBI Sequence Viewer  
  AAI43755 (Get FASTA)   NCBI Sequence Viewer  
  AAI43764 (Get FASTA)   NCBI Sequence Viewer  
  AAP35502 (Get FASTA)   NCBI Sequence Viewer  
  AAX76513 (Get FASTA)   NCBI Sequence Viewer  
  AAY24063 (Get FASTA)   NCBI Sequence Viewer  
  ABR68534 (Get FASTA)   NCBI Sequence Viewer  
  ABR68535 (Get FASTA)   NCBI Sequence Viewer  
  ABR68536 (Get FASTA)   NCBI Sequence Viewer  
  ABR68537 (Get FASTA)   NCBI Sequence Viewer  
  ABR68538 (Get FASTA)   NCBI Sequence Viewer  
  ABR68539 (Get FASTA)   NCBI Sequence Viewer  
  ADO22271 (Get FASTA)   NCBI Sequence Viewer  
  BAD52437 (Get FASTA)   NCBI Sequence Viewer  
  BAD92524 (Get FASTA)   NCBI Sequence Viewer  
  BAD93077 (Get FASTA)   NCBI Sequence Viewer  
  BAG60083 (Get FASTA)   NCBI Sequence Viewer  
  BAG61984 (Get FASTA)   NCBI Sequence Viewer  
  BAG62013 (Get FASTA)   NCBI Sequence Viewer  
  BAG62178 (Get FASTA)   NCBI Sequence Viewer  
  BAH14721 (Get FASTA)   NCBI Sequence Viewer  
  CAA26536 (Get FASTA)   NCBI Sequence Viewer  
  CAB52436 (Get FASTA)   NCBI Sequence Viewer  
  CAB52437 (Get FASTA)   NCBI Sequence Viewer  
  CAC20427 (Get FASTA)   NCBI Sequence Viewer  
  CAC86914 (Get FASTA)   NCBI Sequence Viewer  
  CAC86915 (Get FASTA)   NCBI Sequence Viewer  
  CAC86916 (Get FASTA)   NCBI Sequence Viewer  
  CAD59389 (Get FASTA)   NCBI Sequence Viewer  
  CAD91166 (Get FASTA)   NCBI Sequence Viewer  
  CAD97791 (Get FASTA)   NCBI Sequence Viewer  
  CAD97964 (Get FASTA)   NCBI Sequence Viewer  
  CAD97965 (Get FASTA)   NCBI Sequence Viewer  
  CAD97984 (Get FASTA)   NCBI Sequence Viewer  
  CAE45714 (Get FASTA)   NCBI Sequence Viewer  
  CAE45786 (Get FASTA)   NCBI Sequence Viewer  
  CAE45847 (Get FASTA)   NCBI Sequence Viewer  
  CAE45885 (Get FASTA)   NCBI Sequence Viewer  
  CAE45932 (Get FASTA)   NCBI Sequence Viewer  
  CAE45958 (Get FASTA)   NCBI Sequence Viewer  
  CAE46002 (Get FASTA)   NCBI Sequence Viewer  
  CAE46200 (Get FASTA)   NCBI Sequence Viewer  
  CAH18136 (Get FASTA)   NCBI Sequence Viewer  
  CAH18171 (Get FASTA)   NCBI Sequence Viewer  
  CAH18172 (Get FASTA)   NCBI Sequence Viewer  
  CAH18457 (Get FASTA)   NCBI Sequence Viewer  
  CAH60958 (Get FASTA)   NCBI Sequence Viewer  
  CAI56766 (Get FASTA)   NCBI Sequence Viewer  
  EAW70530 (Get FASTA)   NCBI Sequence Viewer  
  EAW70531 (Get FASTA)   NCBI Sequence Viewer  
  EAW70532 (Get FASTA)   NCBI Sequence Viewer  
  EAW70533 (Get FASTA)   NCBI Sequence Viewer  
  EAW70534 (Get FASTA)   NCBI Sequence Viewer  
  EAW70535 (Get FASTA)   NCBI Sequence Viewer  
  EAW70536 (Get FASTA)   NCBI Sequence Viewer  
  EAW70537 (Get FASTA)   NCBI Sequence Viewer  
  EAW70538 (Get FASTA)   NCBI Sequence Viewer  
  EAW70539 (Get FASTA)   NCBI Sequence Viewer  
  EAW70540 (Get FASTA)   NCBI Sequence Viewer  
  EAW70541 (Get FASTA)   NCBI Sequence Viewer  
  EAW70542 (Get FASTA)   NCBI Sequence Viewer  
  EAW70543 (Get FASTA)   NCBI Sequence Viewer  
  EAW70544 (Get FASTA)   NCBI Sequence Viewer  
  EAW70545 (Get FASTA)   NCBI Sequence Viewer  
  EAW70546 (Get FASTA)   NCBI Sequence Viewer  
  EAW70547 (Get FASTA)   NCBI Sequence Viewer  
  EAW70548 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000323534
  ENSP00000323534.6
  ENSP00000338200
  ENSP00000338200.4
  ENSP00000346839
  ENSP00000346839.4
  ENSP00000348285
  ENSP00000348285.4
  ENSP00000350534
  ENSP00000350534.4
  ENSP00000352696
  ENSP00000352696.1
  ENSP00000392565.1
  ENSP00000394423
  ENSP00000394423.1
  ENSP00000398907
  ENSP00000398907.1
  ENSP00000399538
  ENSP00000399538.2
  ENSP00000410422
  ENSP00000410422.1
  ENSP00000415018
  ENSP00000415018.1
  ENSP00000416139.1
GenBank Protein P02751 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_997639   ⟸   NM_212474
- Peptide Label: isoform 6 precursor
- UniProtKB: A0A384MR03 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997641   ⟸   NM_212476
- Peptide Label: isoform 5 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997643   ⟸   NM_212478
- Peptide Label: isoform 4 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002017   ⟸   NM_002026
- Peptide Label: isoform 3 preproprotein
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_997647   ⟸   NM_212482
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9HAP3 (UniProtKB/Swiss-Prot),   Q9H1B8 (UniProtKB/Swiss-Prot),   Q96KP9 (UniProtKB/Swiss-Prot),   Q96KP8 (UniProtKB/Swiss-Prot),   Q96KP7 (UniProtKB/Swiss-Prot),   Q8IVI8 (UniProtKB/Swiss-Prot),   Q86T27 (UniProtKB/Swiss-Prot),   Q7Z391 (UniProtKB/Swiss-Prot),   Q6N0A6 (UniProtKB/Swiss-Prot),   Q6N025 (UniProtKB/Swiss-Prot),   Q6MZU5 (UniProtKB/Swiss-Prot),   Q6MZS0 (UniProtKB/Swiss-Prot),   Q6LDP6 (UniProtKB/Swiss-Prot),   Q68DT4 (UniProtKB/Swiss-Prot),   Q68DP9 (UniProtKB/Swiss-Prot),   Q68DP8 (UniProtKB/Swiss-Prot),   Q60FE4 (UniProtKB/Swiss-Prot),   Q59EH1 (UniProtKB/Swiss-Prot),   Q585T2 (UniProtKB/Swiss-Prot),   Q564H7 (UniProtKB/Swiss-Prot),   Q53S27 (UniProtKB/Swiss-Prot),   Q17RV7 (UniProtKB/Swiss-Prot),   Q14326 (UniProtKB/Swiss-Prot),   Q14325 (UniProtKB/Swiss-Prot),   Q14312 (UniProtKB/Swiss-Prot),   P02751 (UniProtKB/Swiss-Prot),   O95610 (UniProtKB/Swiss-Prot),   O95609 (UniProtKB/Swiss-Prot),   E9PG29 (UniProtKB/Swiss-Prot),   E9PE77 (UniProtKB/Swiss-Prot),   B7ZLF0 (UniProtKB/Swiss-Prot),   Q9UMK2 (UniProtKB/Swiss-Prot),   B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_473375   ⟸   NM_054034
- Peptide Label: isoform 7 preproprotein
- UniProtKB: P02751 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001293061   ⟸   NM_001306132
- Peptide Label: isoform 11 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293060   ⟸   NM_001306131
- Peptide Label: isoform 10 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293059   ⟸   NM_001306130
- Peptide Label: isoform 9 precursor
- UniProtKB: A0A384MR03 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293058   ⟸   NM_001306129
- Peptide Label: isoform 8 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352452   ⟸   NM_001365523
- Peptide Label: isoform 18 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352453   ⟸   NM_001365524
- Peptide Label: isoform 19 precursor
- UniProtKB: A0A384MR03 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352449   ⟸   NM_001365520
- Peptide Label: isoform 15 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352447   ⟸   NM_001365518
- Peptide Label: isoform 13 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352451   ⟸   NM_001365522
- Peptide Label: isoform 17 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352448   ⟸   NM_001365519
- Peptide Label: isoform 14 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352450   ⟸   NM_001365521
- Peptide Label: isoform 16 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001352446   ⟸   NM_001365517
- Peptide Label: isoform 12 precursor
- UniProtKB: B7ZLE5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000352696   ⟸   ENST00000359671
RefSeq Acc Id: ENSP00000392565   ⟸   ENST00000438981
RefSeq Acc Id: ENSP00000398907   ⟸   ENST00000426059
RefSeq Acc Id: ENSP00000338200   ⟸   ENST00000336916
RefSeq Acc Id: ENSP00000323534   ⟸   ENST00000323926
RefSeq Acc Id: ENSP00000416139   ⟸   ENST00000456923
RefSeq Acc Id: ENSP00000415018   ⟸   ENST00000443816
RefSeq Acc Id: ENSP00000399538   ⟸   ENST00000432072
RefSeq Acc Id: ENSP00000410422   ⟸   ENST00000446046
RefSeq Acc Id: ENSP00000346839   ⟸   ENST00000354785
RefSeq Acc Id: ENSP00000348285   ⟸   ENST00000356005
RefSeq Acc Id: ENSP00000394423   ⟸   ENST00000421182
RefSeq Acc Id: ENSP00000350534   ⟸   ENST00000357867
Protein Domains
Fibronectin type-I   Fibronectin type-II   Fibronectin type-III

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02751-F1-model_v2 AlphaFold P02751 1-2477 view protein structure

Promoters
RGD ID:6862738
Promoter ID:EPDNEW_H4534
Type:initiation region
Name:FN1_1
Description:fibronectin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382215,436,068 - 215,436,128EPDNEW
RGD ID:6796549
Promoter ID:HG_KWN:37093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000265313,   ENST00000345488,   ENST00000346544,   ENST00000357009,   ENST00000359671,   NM_212475,   NM_212476,   NM_212478,   OTTHUMT00000256667,   OTTHUMT00000256668,   OTTHUMT00000256669,   OTTHUMT00000256670,   OTTHUMT00000337236,   OTTHUMT00000337330,   UC002VFB.1,   UC002VFC.1,   UC002VFJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362216,008,814 - 216,009,314 (+)MPROMDB
RGD ID:6849526
Promoter ID:EP16038
Type:single initiation site
Name:HS_FN1
Description:Fibronectin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 110; Mammalian fibronectin
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Regulation:(induced by or strongly expressed in) glucocorticoid, (repressed by or weakly expressed in) transformation
Position:No map positions available.

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3778 AgrOrtholog
COSMIC FN1 COSMIC
Ensembl Genes ENSG00000115414 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000323926 ENTREZGENE
  ENST00000323926.10 UniProtKB/Swiss-Prot
  ENST00000336916 ENTREZGENE
  ENST00000336916.8 UniProtKB/Swiss-Prot
  ENST00000354785 ENTREZGENE
  ENST00000354785.11 UniProtKB/Swiss-Prot
  ENST00000356005 ENTREZGENE
  ENST00000356005.8 UniProtKB/Swiss-Prot
  ENST00000357867 ENTREZGENE
  ENST00000357867.8 UniProtKB/Swiss-Prot
  ENST00000359671 ENTREZGENE
  ENST00000359671.5 UniProtKB/Swiss-Prot
  ENST00000421182 ENTREZGENE
  ENST00000421182.5 UniProtKB/Swiss-Prot
  ENST00000426059 ENTREZGENE
  ENST00000426059.1 UniProtKB/Swiss-Prot
  ENST00000432072 ENTREZGENE
  ENST00000432072.6 UniProtKB/Swiss-Prot
  ENST00000438981.1 UniProtKB/TrEMBL
  ENST00000443816 ENTREZGENE
  ENST00000443816.5 UniProtKB/Swiss-Prot
  ENST00000446046 ENTREZGENE
  ENST00000446046.5 UniProtKB/Swiss-Prot
  ENST00000456923.5 UniProtKB/TrEMBL
Gene3D-CATH 2.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115414 GTEx
HGNC ID HGNC:3778 ENTREZGENE
Human Proteome Map FN1 Human Proteome Map
InterPro Fibronectin_type1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN_type2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kringle-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2335 ENTREZGENE
OMIM 135600 OMIM
PANTHER FIBRONECTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBSTRATE-ADHESION MOLECULE UniProtKB/TrEMBL
  TENASCIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28194 PharmGKB
PRINTS FNTYPEII UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FNTYPEIII UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  FN1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MR03 ENTREZGENE, UniProtKB/TrEMBL
  A6YID2_HUMAN UniProtKB/TrEMBL
  A6YID3_HUMAN UniProtKB/TrEMBL
  A6YID4_HUMAN UniProtKB/TrEMBL
  A6YID5_HUMAN UniProtKB/TrEMBL
  A6YID6_HUMAN UniProtKB/TrEMBL
  A6YID7_HUMAN UniProtKB/TrEMBL
  B7ZLE5 ENTREZGENE, UniProtKB/TrEMBL
  B7ZLF0 ENTREZGENE
  E9PE77 ENTREZGENE
  E9PG29 ENTREZGENE
  FINC_HUMAN UniProtKB/Swiss-Prot
  H0Y4K8_HUMAN UniProtKB/TrEMBL
  H0Y7Z1_HUMAN UniProtKB/TrEMBL
  O95608_HUMAN UniProtKB/TrEMBL
  O95609 ENTREZGENE
  O95610 ENTREZGENE
  P02751 ENTREZGENE
  Q14312 ENTREZGENE
  Q14325 ENTREZGENE
  Q14326 ENTREZGENE
  Q14327_HUMAN UniProtKB/TrEMBL
  Q14328_HUMAN UniProtKB/TrEMBL
  Q17RV7 ENTREZGENE
  Q53S27 ENTREZGENE
  Q564H7 ENTREZGENE
  Q585T2 ENTREZGENE
  Q59EH1 ENTREZGENE
  Q60FE4 ENTREZGENE
  Q68DP8 ENTREZGENE
  Q68DP9 ENTREZGENE
  Q68DT4 ENTREZGENE
  Q6LDP6 ENTREZGENE
  Q6MZF4_HUMAN UniProtKB/TrEMBL
  Q6MZM7_HUMAN UniProtKB/TrEMBL
  Q6MZS0 ENTREZGENE
  Q6MZU5 ENTREZGENE
  Q6N025 ENTREZGENE
  Q6N084_HUMAN UniProtKB/TrEMBL
  Q6N0A6 ENTREZGENE
  Q6PJE5_HUMAN UniProtKB/TrEMBL
  Q7L553_HUMAN UniProtKB/TrEMBL
  Q7Z391 ENTREZGENE
  Q86T27 ENTREZGENE
  Q8IVI8 ENTREZGENE
  Q96KP7 ENTREZGENE
  Q96KP8 ENTREZGENE
  Q96KP9 ENTREZGENE
  Q9H1B8 ENTREZGENE
  Q9HAP3 ENTREZGENE
  Q9UMK2 ENTREZGENE
  Q9UQS6_HUMAN UniProtKB/TrEMBL
UniProt Secondary B7ZLF0 UniProtKB/Swiss-Prot
  E9PE77 UniProtKB/Swiss-Prot
  E9PG29 UniProtKB/Swiss-Prot
  O95609 UniProtKB/Swiss-Prot
  O95610 UniProtKB/Swiss-Prot
  Q14312 UniProtKB/Swiss-Prot
  Q14325 UniProtKB/Swiss-Prot
  Q14326 UniProtKB/Swiss-Prot
  Q17RV7 UniProtKB/Swiss-Prot
  Q53S27 UniProtKB/Swiss-Prot
  Q564H7 UniProtKB/Swiss-Prot
  Q585T2 UniProtKB/Swiss-Prot
  Q59EH1 UniProtKB/Swiss-Prot
  Q60FE4 UniProtKB/Swiss-Prot
  Q68DP8 UniProtKB/Swiss-Prot
  Q68DP9 UniProtKB/Swiss-Prot
  Q68DT4 UniProtKB/Swiss-Prot
  Q6LDP6 UniProtKB/Swiss-Prot
  Q6MZS0 UniProtKB/Swiss-Prot
  Q6MZU5 UniProtKB/Swiss-Prot
  Q6N025 UniProtKB/Swiss-Prot
  Q6N0A6 UniProtKB/Swiss-Prot
  Q7Z391 UniProtKB/Swiss-Prot
  Q86T27 UniProtKB/Swiss-Prot
  Q8IVI8 UniProtKB/Swiss-Prot
  Q96KP7 UniProtKB/Swiss-Prot
  Q96KP8 UniProtKB/Swiss-Prot
  Q96KP9 UniProtKB/Swiss-Prot
  Q9H1B8 UniProtKB/Swiss-Prot
  Q9HAP3 UniProtKB/Swiss-Prot
  Q9UMK2 UniProtKB/Swiss-Prot