COL1A1 (collagen type I alpha 1 chain) - Rat Genome Database

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Gene: COL1A1 (collagen type I alpha 1 chain) Homo sapiens
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Symbol: COL1A1
Name: collagen type I alpha 1 chain
RGD ID: 734049
HGNC Page HGNC:2197
Description: Enables identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including collagen biosynthetic process; collagen fibril organization; and positive regulation of canonical Wnt signaling pathway. Acts upstream of or within skeletal system development. Located in extracellular space. Part of collagen type I trimer. Implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Biomarker of several diseases, including alcoholic hepatitis; autoimmune disease (multiple); end stage renal disease; lupus nephritis; and thoracic aortic aneurysm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1 type I collagen; alpha1(I) procollagen; CAFYD; collagen alpha 1 chain type I; collagen alpha-1(I) chain; collagen alpha-1(I) chain preproprotein; collagen Col1-ColIII-1; collagen Col1-ColIII-2; collagen of skin, tendon and bone, alpha-1 chain; collagen type I alpha 1; collagen, type I, alpha 1; EDSARTH1; EDSC; OI1; OI2; OI3; OI4; pro-alpha-1 collagen type 1; type I proalpha 1; type I procollagen alpha 1 chain
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,184,101 - 50,201,631 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,184,101 - 50,201,632 (-)EnsemblGRCh38hg38GRCh38
GRCh371748,261,462 - 48,278,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,616,456 - 45,633,999 (-)NCBINCBI36Build 36hg18NCBI36
Build 341745,616,455 - 45,633,992NCBI
Celera1744,722,303 - 44,739,829 (-)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,630,129 - 43,647,463 (-)NCBIHuRef
CHM1_11748,325,754 - 48,343,284 (-)NCBICHM1_1
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
aggressive periodontitis  (IAGP)
alcoholic hepatitis  (IEP)
aortic valve insufficiency  (EXP)
Arteriovenous Fistula  (ISO)
asphyxia neonatorum  (IAGP)
autoimmune disease  (EXP)
autosomal recessive limb-girdle muscular dystrophy type 2D  (IAGP)
beta thalassemia  (IAGP)
Bisphosphonate-Associated Osteonecrosis of the Jaw  (IAGP)
bladder neck obstruction  (ISO)
Bone Fractures  (IAGP,IMP)
Caffey disease  (EXP,IAGP)
calcinosis  (EXP)
Cardiac Fibrosis  (ISO)
cholangitis  (EXP)
cholestasis  (ISO)
chronic obstructive pulmonary disease  (IEP)
Chronic Pancreatitis  (ISO)
Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1  (IAGP)
congenital heart disease  (IAGP)
connective tissue disease  (IAGP)
Contracture  (ISO)
cutaneous leishmaniasis  (IAGP)
degenerative disc disease  (IAGP)
dentinogenesis imperfecta  (IAGP)
dermatofibrosarcoma protuberans  (IAGP)
Diabetic Nephropathies  (ISO)
dilated cardiomyopathy  (IAGP)
Dissecting Aneurysm  (EXP)
Ehlers-Danlos syndrome  (IAGP,ISO,ISS)
Ehlers-Danlos syndrome arthrochalasia type 1  (EXP,IAGP)
Ehlers-Danlos syndrome arthrochalasia type 2  (IAGP)
Ehlers-Danlos syndrome cardiac valvular type  (IAGP)
Ehlers-Danlos syndrome classic type 1  (IAGP)
end stage renal disease  (IEP)
Experimental Liver Cirrhosis  (EXP,ISO)
extrahepatic cholestasis  (EXP)
Femoral Fractures  (ISO)
Fetal Nutrition Disorders  (ISO)
Fibrosis  (EXP)
genetic disease  (IAGP)
heart valve disease  (EXP)
hemorrhagic disease  (IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
High Myopia  (IAGP)
Human Viral Hepatitis  (IEP)
Hypertelorism  (IAGP)
hypertension  (EXP)
Hypertensive Nephropathy  (ISO)
hypertrophic cardiomyopathy  (IAGP)
Intervertebral Disc Disease  (IAGP)
Joint Instability  (IAGP)
Keloid  (EXP)
keratoconus  (IAGP)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (EXP)
Lipodermatosclerosis  (IEP)
liver benign neoplasm  (ISO)
liver cirrhosis  (EXP)
Lung Reperfusion Injury  (ISO)
lupus nephritis  (IEP,ISO)
Metabolic Bone Diseases  (IAGP)
metabolic dysfunction-associated steatohepatitis  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
multiple epiphyseal dysplasia 1  (IAGP)
multiple sclerosis  (IEP)
Muscle Hypotonia  (IAGP)
myocardial infarction  (ISO)
myocarditis  (ISO)
myopia  (ISO)
Nephrogenic Fibrosing Dermopathy  (EXP)
nephrosclerosis  (EXP)
nephrotic syndrome  (EXP)
obesity  (ISO)
ocular hypertension  (ISO)
open-angle glaucoma  (ISO)
oral submucous fibrosis  (EXP)
osteoarthritis  (IAGP)
Osteoarthritis, Experimental  (ISO)
Osteoarthritis, Hip  (IAGP,IEP)
osteochondrodysplasia  (IAGP)
osteogenesis imperfecta  (EXP,IAGP,IMP,ISO,ISS)
osteogenesis imperfecta type 1  (IAGP,ISS)
osteogenesis imperfecta type 2  (EXP,IAGP,ISS)
osteogenesis imperfecta type 2C  (IAGP)
osteogenesis imperfecta type 3  (EXP,IAGP,ISS)
osteogenesis imperfecta type 4  (IAGP,ISS)
osteoporosis  (EXP,IAGP)
otosclerosis  (IAGP)
phenylketonuria  (IAGP)
Postmenopausal Osteoporosis  (IAGP)
Premature Birth  (IAGP)
primary biliary cholangitis  (ISO)
prostate cancer  (IAGP)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (ISO)
rheumatic heart disease  (ISO)
Spontaneous Abortions  (EXP)
Spontaneous Fractures  (IAGP)
Stickler syndrome 2  (IAGP)
systemic scleroderma  (IEP)
Tendon Injuries  (ISO)
thoracic aortic aneurysm  (IAGP,IEP)
Trachomatous Trichiasis  (IEP)
trichodontoosseous syndrome  (IAGP)
Tubulointerstitial Fibrosis  (ISO)
ulcerative colitis  (IEP)
ureteral obstruction  (ISO)
Ventral Hernia  (ISO)
Wiedemann-Rautenstrauch syndrome  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-beta-thujone  (EXP)
(+)-schisandrin B  (EXP,ISO)
(+)-Tetrandrine  (EXP)
(-)-anisomycin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(-)-selegiline  (ISO)
(1->4)-beta-D-glucan  (ISO)
(2R,4R)-1-[(2S)-5-(diaminomethylideneamino)-2-[(3-methyl-1,2,3,4-tetrahydroquinolin-8-yl)sulfonylamino]-1-oxopentyl]-4-methyl-2-piperidinecarboxylic acid  (ISO)
(R)-camphor  (EXP)
(R)-carnitine  (ISO)
(R)-linalyl acetate  (EXP)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,8-cineole  (EXP)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-stearoyl-2-arachidonoyl-sn-glycerol  (EXP)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-bromohexadecanoic acid  (EXP)
2-butoxyethanol  (ISO)
2-hydroxyethyl methacrylate  (EXP)
2-trans,6-trans,10-trans-geranylgeranyl diphosphate  (EXP)
20-HETE  (EXP)
24,25-Dihydroxyvitamin D  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3-methyladenine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5'-S-methyl-5'-thioadenosine  (EXP,ISO)
5,6-dichloro-1-beta-D-ribofuranosyl-1H-benzimidazole  (ISO)
5,6-dichlorobenzimidazole riboside  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP)
5-fluorouracil  (ISO)
5-Hydroxycapric acid  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (EXP,ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
8'-apo-beta,psi-caroten-8'-al  (EXP)
9,10-epoxy-12-octadecenoic acid  (ISO)
9-cis-retinoic acid  (EXP)
acetaldehyde  (EXP,ISO)
acetic acid  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
actinomycin D  (EXP)
Activin A  (ISO)
adenine  (ISO)
aflatoxin B1  (ISO)
AICA ribonucleotide  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (ISO)
Alisol B  (ISO)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-4-oxoretinol  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
allyl isothiocyanate  (ISO)
Allylamine  (ISO)
alpha-pinene  (EXP)
alpha-Zearalanol  (ISO)
aluminium atom  (ISO)
aluminium oxide  (EXP)
aluminium(0)  (ISO)
AM-251  (EXP)
ambroxol  (ISO)
aminoguanidine  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
amlodipine  (ISO)
ammonia  (EXP)
ammonium chloride  (EXP)
Ammothamnine  (ISO)
amosite asbestos  (ISO)
amphetamine  (ISO)
amphibole asbestos  (ISO)
andrographolide  (EXP,ISO)
angiotensin II  (ISO)
anthocyanin  (ISO)
antimycin A  (EXP)
Archazolid B  (EXP)
argatroban  (ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
atorvastatin calcium  (EXP)
ATP  (EXP)
atrazine  (EXP,ISO)
aucubin  (ISO)
azathioprine  (EXP)
azelastine  (EXP)
Azoxymethane  (ISO)
baicalein  (EXP,ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
berberine  (EXP,ISO)
beta-carotene  (EXP)
beta-D-glucosamine  (EXP)
beta-naphthoflavone  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP,ISO)
boron atom  (EXP)
boron nitride  (EXP)
BQ 123  (ISO)
bromochloroacetic acid  (ISO)
bucladesine  (EXP)
busulfan  (EXP)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
C.I. Natural Red 20  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcipotriol  (ISO)
calcitriol  (EXP,ISO)
calcium dichloride  (EXP)
calcium dihydroxide  (EXP)
calcium silicate  (ISO)
camostat  (ISO)
camphor  (EXP)
cannabidiol  (EXP)
cantharidin  (ISO)
capsaicin  (ISO)
carbamazepine  (EXP)
Carbaprostacyclin  (EXP)
carbon nanotube  (EXP,ISO)
carmustine  (EXP)
carvedilol  (ISO)
casticin  (EXP)
celastrol  (ISO)
celecoxib  (ISO)
ceruletide  (EXP,ISO)
chenodeoxycholic acid  (ISO)
chloramphenicol  (EXP)
chlorogenic acid  (EXP,ISO)
chloroquine  (EXP)
chlorothalonil  (EXP)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
cholate  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysene  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP)
clodronic acid  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
Clofop  (ISO)
clorgyline  (ISO)
clothianidin  (EXP)
clotrimazole  (ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (ISO)
cordycepin  (EXP)
corosolic acid  (EXP)
cortisol  (ISO)
crocidolite asbestos  (EXP,ISO)
Cryptotanshinone  (EXP,ISO)
cucurbitacin B  (ISO)
cucurbitacin E  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP,ISO)
cystamine  (ISO)
cytarabine  (EXP)
cytochalasin D  (EXP)
D-glucose  (EXP,ISO)
DDT  (EXP,ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP,ISO)
diazepam  (EXP)
diazoxide  (ISO)
dibutyl phthalate  (ISO)
Didecyldimethylammonium  (EXP,ISO)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
Dihydrotanshinone I  (EXP)
diiodine  (EXP)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
diltiazem  (ISO)
Dimerumic acid  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinic acid  (ISO)
dimethylarsinous acid  (EXP)
diminazene diaceturate  (EXP)
Diosbulbin B  (ISO)
dioxygen  (EXP,ISO)
dipyridamole  (EXP,ISO)
diquat  (ISO)
disodium selenite  (ISO)
disulfiram  (EXP)
diuron  (ISO)
divanadium pentaoxide  (EXP)
dizocilpine maleate  (EXP)
dorsomorphin  (EXP)
doxazosin  (ISO)
doxorubicin  (EXP,ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (ISO)
edaravone  (ISO)
elemental boron  (EXP)
elemental selenium  (ISO)
ellagic acid  (ISO)
emodin  (ISO)
enalapril  (ISO)
endosulfan  (EXP)
entinostat  (EXP,ISO)
enzacamene  (ISO)
epalrestat  (ISO)
eplerenone  (ISO)
eprosartan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylisopropylamiloride  (ISO)
excitatory amino acid agonist  (EXP)
fasudil  (ISO)
fenofibrate  (EXP,ISO)
fenvalerate  (EXP)
ferric ammonium citrate  (ISO)
fingolimod hydrochloride  (ISO)
fisetin  (ISO)
folic acid  (ISO)
folpet  (ISO)
fomepizole  (ISO)
fonofos  (EXP)
fructose  (ISO)
fulvestrant  (ISO)
Fulvic acid  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gefitinib  (ISO)
gemcitabine  (EXP)
genistein  (EXP,ISO)
geraniol  (ISO)
glucagon  (ISO)
glucose  (EXP,ISO)
glyburide  (ISO)
glycerol 2-phosphate  (EXP,ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glyoxal  (EXP)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
griseofulvin  (ISO)
guaiazulene  (EXP)
guggulsterone  (ISO)
GW 4064  (ISO)
heptachlor  (EXP)
hesperetin  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hexadecanoic acid  (EXP,ISO)
Honokiol  (ISO)
hydralazine  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
hypochlorous acid  (ISO)
Icaritin  (EXP,ISO)
Ile(5)-angiotensin II  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
iron atom  (ISO)
iron dextran  (ISO)
iron(0)  (ISO)
iron(III) nitrilotriacetate  (ISO)
isoflavones  (EXP)
isoprenaline  (ISO)
isorhamnetin  (EXP,ISO)
isotretinoin  (ISO)
ivermectin  (EXP,ISO)
JTE-013  (ISO)
kainic acid  (ISO)
ketoconazole  (ISO)
L-arginine  (EXP)
L-ascorbic acid  (EXP,ISO)
L-ascorbic acid 2-phosphate  (EXP)
L-cysteine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
leukotriene B4  (ISO)
levonorgestrel  (EXP)
linalool  (EXP)
linalyl acetate  (EXP)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lipoxin A4  (ISO)
lithocholic acid  (ISO)
losartan  (ISO)
LY-2157299  (ISO)
magnesium atom  (EXP)
malonaldehyde  (EXP)
maneb  (ISO)
mangiferin  (ISO)
manidipine  (ISO)
maraviroc  (ISO)
marinobufagenin  (ISO)
melatonin  (EXP)
menadione  (EXP)
menaquinone  (EXP)
mercaptopurine  (ISO)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylmercury(1+)  (ISO)
methylparaben  (EXP)
metoprolol  (ISO)
mevalonic acid  (EXP)
miconazole  (ISO)
microcystin-LR  (ISO)
mifepristone  (ISO)
mirtazapine  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
Morroniside  (ISO)
myo-inositol hexakisphosphate  (EXP)
myricitrin  (EXP,ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
N-oleoyldopamine  (EXP)
N-palmitoyl dopamine  (EXP)
N-tosyl-L-phenylalanyl chloromethyl ketone  (ISO)
naphthalene  (ISO)
naringin  (ISO)
neoeriocitrin  (ISO)
nickel atom  (EXP,ISO)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
niclosamide  (EXP,ISO)
nicotinamide  (EXP,ISO)
nicotine  (ISO)
nimodipine  (ISO)
nitrofen  (ISO)
NMN zwitterion  (EXP)
obeticholic acid  (EXP,ISO)
okadaic acid  (ISO)
olanzapine  (EXP)
olaparib  (ISO)
oleamide  (EXP)
oleanolic acid  (ISO)
oleic acid  (EXP)
Olmesartan medoxomil  (ISO)
Osajin  (EXP)
ouabain  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paclitaxel  (EXP)
pamidronate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
parathion  (EXP)
paricalcitol  (EXP)
pentanal  (EXP)
Pentoxifylline  (EXP,ISO)
perfluorobutanesulfonic acid  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenol  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
PhIP  (ISO)
phosphatidylcholine  (ISO)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
picoxystrobin  (EXP)
pirfenidone  (EXP,ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
Plantamajoside  (ISO)
poly(ethylene)  (EXP)
poly(guanylic acid)  (ISO)
Pomiferin  (EXP)
potassium dichromate  (EXP,ISO)
prednisolone  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
propiconazole  (ISO)
prostaglandin E2  (EXP)
Ptaquiloside  (ISO)
puerarin  (ISO)
purine-6-thiol  (ISO)
pyrazinecarboxamide  (ISO)
pyrogallol  (ISO)
pyrrolidine dithiocarbamate  (EXP,ISO)
quartz  (EXP,ISO)
quercetin  (EXP,ISO)
ramipril  (ISO)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
rifaximin  (EXP)
rimonabant  (ISO)
roflumilast  (EXP,ISO)
rosmarinic acid  (EXP,ISO)
rotenone  (ISO)
rottlerin  (EXP)
Rutecarpine  (EXP)
rutin  (EXP)
S-adenosyl-L-homocysteine  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
sabinene  (EXP)
Sanggenon C  (ISO)
saralasin  (EXP)
SB 203580  (EXP,ISO)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
selenium atom  (ISO)
serpentine asbestos  (ISO)
Shikonin  (EXP)
sildenafil citrate  (ISO)
silibinin  (ISO)
silicon atom  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP,ISO)
Sinomenine  (EXP)
sirolimus  (ISO)
sirtinol  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
sodium benzoate  (ISO)
sodium chloride  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sorafenib  (EXP,ISO)
spathulenol  (EXP)
sphingosine 1-phosphate  (ISO)
stattic  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP,ISO)
T-2 toxin  (ISO)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
teprenone  (ISO)
terbufos  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (EXP,ISO)
tetramethylpyrazine  (EXP,ISO)
Tetramethylthiourea  (ISO)
tetraphene  (ISO)
tetrathiomolybdate(2-)  (EXP)
thalidomide  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
thymoquinone  (EXP,ISO)
titanium atom  (EXP,ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
tranexamic acid  (ISO)
Tremulacin  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (EXP,ISO)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vanadium atom  (EXP)
vanadium(0)  (EXP)
verapamil  (EXP,ISO)
verteporfin  (ISO)
vildagliptin  (ISO)
vitamin D  (EXP,ISO)
vitamin E  (ISO)
vitamin K  (ISO)
warfarin  (ISO)
Y-27632  (EXP,ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
blood vessel development  (IEA,IMP,ISO)
bone trabecula formation  (IEA,ISO)
cartilage development involved in endochondral bone morphogenesis  (IEA,ISO)
cell adhesion  (NAS)
cellular response to amino acid stimulus  (IEA,ISO)
cellular response to epidermal growth factor stimulus  (IEA,ISO)
cellular response to fibroblast growth factor stimulus  (IEA,ISO)
cellular response to fluoride  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to retinoic acid  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
cellular response to tumor necrosis factor  (IEA,ISO)
cellular response to vitamin E  (IEA,ISO)
collagen biosynthetic process  (IMP)
collagen fibril organization  (IMP,NAS)
collagen-activated tyrosine kinase receptor signaling pathway  (IEA,ISO)
embryonic skeletal system development  (IMP)
endochondral ossification  (IEA,ISO)
face morphogenesis  (IEA,ISO)
intramembranous ossification  (IEA,ISO)
negative regulation of cell-substrate adhesion  (IEA,ISO)
obsolete response to organic cyclic compound  (IEA)
ossification  (IEA,ISO)
osteoblast differentiation  (IEA)
positive regulation of canonical Wnt signaling pathway  (IDA)
positive regulation of cell migration  (IDA)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of epithelial to mesenchymal transition  (IDA)
protein localization to nucleus  (IDA)
protein transport  (IEA,ISO)
response to cAMP  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to fluoride  (IEA,ISO)
response to hydrogen peroxide  (IEA,ISO)
response to hyperoxia  (IEA,ISO)
response to insulin  (IEA,ISO)
response to mechanical stimulus  (IEA,ISO)
response to nutrient  (IEA,ISO)
response to nutrient levels  (IEA,ISO)
response to peptide hormone  (IEA,ISO)
response to steroid hormone  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
sensory perception of sound  (IMP)
skeletal system development  (IEA,IMP)
skeletal system morphogenesis  (IEA,ISO)
skin development  (IEA,ISO)
skin morphogenesis  (IMP)
tooth mineralization  (IMP)
visual perception  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal cornea morphology  (IAGP)
Abnormal corneal thickness  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal heart valve physiology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of subcutaneous fat tissue  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the temporomandibular joint  (IAGP)
Absent ossification of calvaria  (IAGP)
Acrocyanosis  (IAGP)
Anteverted nares  (IAGP)
Aortic aneurysm  (IAGP)
Aortic root aneurysm  (IAGP)
Aphasia  (IAGP)
Arterial dissection  (IAGP)
Arterial rupture  (IAGP)
Arteriovenous fistula  (IAGP)
Arthralgia  (IAGP)
Atrial septal defect  (IAGP)
Atrophic scars  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Basilar impression  (IAGP)
Bell-shaped thorax  (IAGP)
Biconcave flattened vertebrae  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bladder diverticulum  (IAGP)
Blepharochalasis  (IAGP)
Blue sclerae  (IAGP)
Bowing of limbs due to multiple fractures  (IAGP)
Bowing of the legs  (IAGP)
Breech presentation  (IAGP)
Broad forehead  (IAGP)
Broad long bones  (IAGP)
Bruising susceptibility  (IAGP)
Calvarial hyperostosis  (IAGP)
Cellulitis  (IAGP)
Cervical insufficiency  (IAGP)
Childhood onset  (IAGP)
Chronic constipation  (IAGP)
Cigarette-paper scars  (IAGP)
Congenital bilateral hip dislocation  (IAGP)
Congenital knee dislocation  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Contracture of the proximal interphalangeal joint of the 2nd finger  (IAGP)
Contracture of the proximal interphalangeal joint of the 3rd finger  (IAGP)
Convex nasal ridge  (IAGP)
Cortical irregularity  (IAGP)
Cortical thickening of long bone diaphyses  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Cranial asymmetry  (IAGP)
Craniofacial disproportion  (IAGP)
Crumpled long bones  (IAGP)
Decreased calvarial ossification  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed gross motor development  (IAGP)
Dentinogenesis imperfecta  (IAGP)
Depressed nasal bridge  (IAGP)
Dermal translucency  (IAGP)
Dermatochalasis  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dislocated radial head  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Downslanted palpebral fissures  (IAGP)
Ecchymosis  (IAGP)
Echolalia  (IAGP)
Epicanthus  (IAGP)
Erythema  (IAGP)
Facial asymmetry  (IAGP)
Fatigue  (IAGP)
Feeding difficulties in infancy  (IAGP)
Femoral bowing  (IAGP)
Femoral bowing present at birth, straightening with time  (IAGP)
Femoral hernia  (IAGP)
Fever  (IAGP)
Fibrosarcoma  (IAGP)
Finger joint hypermobility  (IAGP)
Flat occiput  (IAGP)
Fragile skin  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint hypermobility  (IAGP)
Growth abnormality  (IAGP)
Hallux valgus  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hiatus hernia  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hip osteoarthritis  (IAGP)
Hyperesthesia  (IAGP)
Hyperextensible skin  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Incisional hernia  (IAGP)
Increased axial length of the globe  (IAGP)
Increased circulating antibody concentration  (IAGP)
Increased susceptibility to fractures  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Joint subluxation  (IAGP)
Joint swelling  (IAGP)
Keratoconus  (IAGP)
Kyphosis  (IAGP)
Large fontanelles  (IAGP)
Limb pain  (IAGP)
Limb undergrowth  (IAGP)
Lymphadenopathy  (IAGP)
Malar flattening  (IAGP)
Maternal hypertension  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mild short stature  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Molluscoid pseudotumors  (IAGP)
Motor delay  (IAGP)
Multiple prenatal fractures  (IAGP)
Multiple rib fractures  (IAGP)
Muscle flaccidity  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Mutism  (IAGP)
Nausea  (IAGP)
Neonatal asphyxia  (IAGP)
Neonatal short-limb short stature  (IAGP)
Neoplasm of the skin  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Orthostatic hypotension  (IAGP)
Osteoarthritis  (IAGP)
Osteolysis  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Otosclerosis  (IAGP)
Pain  (IAGP)
Patellar dislocation  (IAGP)
Pathologic fracture  (IAGP)
Periosteal thickening of long tubular bones  (IAGP)
Pes planus  (IAGP)
Phalangeal dislocation  (IAGP)
Piezogenic pedal papules  (IAGP)
Platybasia  (IAGP)
Platyspondyly  (IAGP)
Poor wound healing  (IAGP)
Popcorn calcification  (IAGP)
Premature birth  (IAGP)
Premature osteoarthritis  (IAGP)
Premature rupture of membranes  (IAGP)
Prematurely aged appearance  (IAGP)
Prolonged bleeding time  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Protrusio acetabuli  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonic regurgitation  (IAGP)
Pulp calcification  (IAGP)
Rectal prolapse  (IAGP)
Recurrent fractures  (IAGP)
Recurrent joint dislocation  (IAGP)
Recurrent long bone fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Rhizomelia  (IAGP)
Scarring  (IAGP)
Scoliosis  (IAGP)
Severe generalized osteoporosis  (IAGP)
Severe short stature  (IAGP)
Short stature  (IAGP)
Shoulder dislocation  (IAGP)
Skeletal dysplasia  (IAGP)
Skin ulcer  (IAGP)
Slender long bone  (IAGP)
Small for gestational age  (IAGP)
Soft, doughy skin  (IAGP)
Striae distensae  (IAGP)
Subcutaneous nodule  (IAGP)
Subcutaneous spheroids  (IAGP)
Subperiosteal bone formation  (IAGP)
Talipes equinovarus  (IAGP)
Thickened cortex of the clavicle  (IAGP)
Thickened cortex of the mandible  (IAGP)
Thickened cortex of the radius  (IAGP)
Thickened cortex of the ulna  (IAGP)
Thickened skin  (IAGP)
Thickened tibial cortex  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Thoracic hypoplasia  (IAGP)
Tibial bowing  (IAGP)
Triangular face  (IAGP)
Tricuspid regurgitation  (IAGP)
Tricuspid valve prolapse  (IAGP)
Umbilical hernia  (IAGP)
Uterine prolapse  (IAGP)
Vertebra plana  (IAGP)
Vomiting  (IAGP)
Wide anterior fontanel  (IAGP)
Wide cranial sutures  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
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2. Lack of association between osteoarthritis of the hip and gene polymorphisms of VDR, COL1A1, and COL2A1 in postmenopausal women. Aerssens J, etal., Arthritis Rheum. 1998 Nov;41(11):1946-50.
3. Combination of ADMSCs and chondrocytes reduces hypertrophy and improves the functional properties of osteoarthritic cartilage. Ahmed MR, etal., Osteoarthritis Cartilage. 2014 Nov;22(11):1894-901. doi: 10.1016/j.joca.2014.07.028. Epub 2014 Aug 13.
4. Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: role of COL1A1. Almeida L, etal., Infect Genet Evol. 2015 Mar;30:225-9. doi: 10.1016/j.meegid.2014.12.034. Epub 2015 Jan 3.
5. Albumin and procollagen type I gene regulation in alcohol and viral-induced human liver disease. Annoni G, etal., Boll Ist Sieroter Milan. 1991-1992;70(1-2):391-7.
6. Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia. Arisal O, etal., Haematologia (Budap). 2002;32(4):475-82.
7. Alteration of type I collagen in the radial artery of patients with end-stage renal disease. Bai Y, etal., Am J Med Sci. 2015 Apr;349(4):292-7. doi: 10.1097/MAJ.0000000000000408.
8. A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site. Bei T, etal., Hormones (Athens). 2008 Jul-Sep;7(3):251-4.
9. Prevention of glomerulosclerosis by early cyclosporine treatment of experimental lupus nephritis. Bergijk EC, etal., Kidney Int. 1994 Dec;46(6):1663-73.
10. Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Byers PH, etal., Am J Med Genet 1997 Oct 3;72(1):94-105.
11. ZFP36 protects lungs from intestinal I/R-induced injury and fibrosis through the CREBBP/p53/p21/Bax pathway. Cao Y, etal., Cell Death Dis. 2021 Jul 8;12(7):685. doi: 10.1038/s41419-021-03950-y.
12. MiR-133a regulates collagen 1A1: potential role of miR-133a in myocardial fibrosis in angiotensin II-dependent hypertension. Castoldi G, etal., J Cell Physiol. 2012 Feb;227(2):850-6. doi: 10.1002/jcp.22939.
13. First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome. Chen F, etal., J Bone Miner Res. 2014 Jun;29(6):1412-23. doi: 10.1002/jbmr.2177.
14. A Chinese herbal medicine, Gexia-Zhuyu Tang (GZT), prevents dimethylnitrosamine-induced liver fibrosis through inhibition of hepatic stellate cells proliferation. Chen JY, etal., J Ethnopharmacol. 2012 Aug 1;142(3):811-8. doi: 10.1016/j.jep.2012.06.005. Epub 2012 Jun 15.
15. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Chen W, etal., Clin Genet. 2007 May;71(5):406-14.
16. High-flow-induced arterial remodeling in rats with different susceptibilities to cerebral aneurysms. Coutard M, etal., J Vasc Res. 2006;43(3):217-28. Epub 2006 Jan 20.
17. Outflow facility in mice with a targeted type I collagen mutation. Dai Y, etal., Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5749-53. doi: 10.1167/iovs.08-3367. Epub 2009 Sep 24.
18. Procollagen type I gene expression and cell proliferation are increased in lipodermatosclerosis. Degiorgio-Miller AM, etal., Br J Dermatol. 2005 Feb;152(2):242-9.
19. Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes. Dimasi DP, etal., Hum Genet. 2010 Jan;127(1):33-44. doi: 10.1007/s00439-009-0729-3. Epub 2009 Aug 28.
20. High resolution molecular and histological analysis of renal disease progression in ZSF1 fa/faCP rats, a model of type 2 diabetic nephropathy. Dower K, etal., PLoS One. 2017 Jul 26;12(7):e0181861. doi: 10.1371/journal.pone.0181861. eCollection 2017.
21. The Sp1 COLIA1 gene polymorphism, and not vitamin D receptor or estrogen receptor gene polymorphisms, determines bone mineral density in postmenopausal Greek women. Efstathiadou Z, etal., Osteoporos Int. 2001;12(4):326-31.
22. TRPM7 channel regulates PDGF-BB-induced proliferation of hepatic stellate cells via PI3K and ERK pathways. Fang L, etal., Toxicol Appl Pharmacol. 2013 Nov 1;272(3):713-25. doi: 10.1016/j.taap.2013.08.009. Epub 2013 Aug 16.
23. Bone marrow derived-mesenchymal stem cells downregulate IL17A dependent IL6/STAT3 signaling pathway in CCl4-induced rat liver fibrosis. Farouk S, etal., PLoS One. 2018 Oct 22;13(10):e0206130. doi: 10.1371/journal.pone.0206130. eCollection 2018.
24. In vivo low-intensity pulsed ultrasound (LIPUS) following tendon injury promotes repair during granulation but suppresses decorin and biglycan expression during remodeling. Fu SC, etal., J Orthop Sports Phys Ther. 2010 Jul;40(7):422-9. doi: 10.2519/jospt.2010.3254.
25. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. Gensure RC, etal., J Clin Invest. 2005 May;115(5):1250-7.
26. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
27. Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. Gokden N, etal., J Cutan Pathol. 2003 Mar;30(3):190-5.
28. Relationship between SP1 polymorphism and osteoporosis in beta-thalassemia major patients. Guzeloglu-Kayisli O, etal., Pediatr Int. 2008 Aug;50(4):474-6. doi: 10.1111/j.1442-200X.2008.02609.x.
29. Aqueous extract of Artemisia iwayomogi Kitamura attenuates cholestatic liver fibrosis in a rat model of bile duct ligation. Han JM, etal., Food Chem Toxicol. 2012 Oct;50(10):3505-13. doi: 10.1016/j.fct.2012.07.018. Epub 2012 Jul 20.
30. Combination of retinoic acid and ursodeoxycholic acid attenuates liver injury in bile duct-ligated rats and human hepatic cells. He H, etal., Hepatology. 2011 Feb;53(2):548-57. doi: 10.1002/hep.24047. Epub 2010 Dec 10.
31. A synthetic peptide from transforming growth factor-beta1 type III receptor prevents myocardial fibrosis in spontaneously hypertensive rats. Hermida N, etal., Cardiovasc Res. 2009 Feb 15;81(3):601-9. doi: 10.1093/cvr/cvn315. Epub 2008 Nov 19.
32. Pathway-focused arrays reveal increased matrix metalloproteinase-7 (matrilysin) transcription in trachomatous trichiasis. Holland MJ, etal., Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3893-902. doi: 10.1167/iovs.09-5054. Epub 2010 Apr 7.
33. Upregulation of tissue inhibitor of metalloproteases-1 (TIMP-1) and procollagen-N-peptidase in hypertension-induced renal damage. Hultstrom M, etal., Nephrol Dial Transplant. 2008 Mar;23(3):896-903. Epub 2007 Oct 31.
34. The COL1A1 gene and high myopia susceptibility in Japanese. Inamori Y, etal., Hum Genet. 2007 Sep;122(2):151-7. Epub 2007 Jun 8.
35. Comparison of antioxidative and antifibrotic effects of alpha-tocopherol with those of tocotrienol-rich fraction in a rat model of chronic pancreatitis. Jiang F, etal., Pancreas. 2011 Oct;40(7):1091-6. doi: 10.1097/MPA.0b013e31821b59c6.
36. Preventing effects of joint contracture by high molecular weight hyaluronan injections in a rat immobilized knee model. Kanazawa K, etal., Int J Clin Exp Pathol. 2015 Apr 1;8(4):3426-40. eCollection 2015.
37. Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw. Katz J, etal., Int J Oral Maxillofac Surg. 2011 Jun;40(6):605-11. doi: 10.1016/j.ijom.2011.02.002. Epub 2011 Mar 10.
38. Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency. Kesserwan C, etal., J Allergy Clin Immunol. 2011 Dec 6.
39. Middle East Respiratory Syndrome-Coronavirus Infection into Established hDPP4-Transgenic Mice Accelerates Lung Damage Via Activation of the Pro-Inflammatory Response and Pulmonary Fibrosis. Kim J, etal., J Microbiol Biotechnol. 2020 Mar 28;30(3):427-438. doi: 10.4014/jmb.1910.10055.
40. Prevention of liver fibrosis by triple helix-forming oligodeoxyribonucleotides targeted to the promoter region of type I collagen gene. Koilan S, etal., Oligonucleotides. 2010 Oct;20(5):231-7. Epub 2010 Sep 6.
41. Co-localization of transforming growth factor beta 2 with alpha 1(I) procollagen mRNA in tissue sections of patients with systemic sclerosis. Kulozik M, etal., J Clin Invest. 1990 Sep;86(3):917-22.
42. Concomitant apoptosis and regeneration of liver cells as a mechanism of liver-tumor promotion by beta-naphthoflavone involving TNFalpha-signaling due to oxidative cellular stress in rats. Kuwata K, etal., Toxicology. 2011 Apr 28;283(1):8-17. Epub 2011 Feb 2.
43. Blockade of cysteine-rich protein 61 attenuates renal inflammation and fibrosis after ischemic kidney injury. Lai CF, etal., Am J Physiol Renal Physiol. 2014 Sep 1;307(5):F581-92. doi: 10.1152/ajprenal.00670.2013. Epub 2014 Jun 11.
44. Oral methylthioadenosine administration attenuates fibrosis and chronic liver disease progression in Mdr2-/- mice. Latasa MU, etal., PLoS One. 2010 Dec 29;5(12):e15690. doi: 10.1371/journal.pone.0015690.
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PMID:26852534   PMID:26857861   PMID:26887942   PMID:26894886   PMID:26926600   PMID:26927310   PMID:26932148   PMID:26935598   PMID:26995940   PMID:27044453   PMID:27060301   PMID:27068509  
PMID:27090748   PMID:27105433   PMID:27125916   PMID:27132807   PMID:27178384   PMID:27298363   PMID:27322414   PMID:27363273   PMID:27371342   PMID:27454992   PMID:27477081   PMID:27484908  
PMID:27503584   PMID:27511505   PMID:27519266   PMID:27521280   PMID:27549894   PMID:27559042   PMID:27577215   PMID:27591049   PMID:27595307   PMID:27609069   PMID:27632864   PMID:27636223  
PMID:27655672   PMID:27691923   PMID:27748872   PMID:27775453   PMID:27840329   PMID:27894325   PMID:28065597   PMID:28102596   PMID:28130256   PMID:28177155   PMID:28206959   PMID:28258342  
PMID:28259900   PMID:28261929   PMID:28281531   PMID:28286269   PMID:28302318   PMID:28327460   PMID:28334615   PMID:28339802   PMID:28344315   PMID:28370352   PMID:28428367   PMID:28432057  
PMID:28498836   PMID:28514442   PMID:28526934   PMID:28528406   PMID:28569392   PMID:28590245   PMID:28629592   PMID:28675934   PMID:28796060   PMID:28810924   PMID:28827734   PMID:28981938  
PMID:28983623   PMID:29068597   PMID:29101475   PMID:29150431   PMID:29196165   PMID:29199991   PMID:29393423   PMID:29520684   PMID:29543232   PMID:29543922   PMID:29568927   PMID:29594386  
PMID:29641324   PMID:29669177   PMID:29763968   PMID:29781507   PMID:29807221   PMID:29845934   PMID:29906404   PMID:29980413   PMID:30044046   PMID:30132520   PMID:30227844   PMID:30251958  
PMID:30272346   PMID:30272615   PMID:30273997   PMID:30310058   PMID:30344098   PMID:30348200   PMID:30358549   PMID:30388611   PMID:30389107   PMID:30475338   PMID:30483853   PMID:30515401  
PMID:30604926   PMID:30664222   PMID:30683734   PMID:30946936   PMID:31034464   PMID:31055083   PMID:31128912   PMID:31159867   PMID:31204718   PMID:31239369   PMID:31246104   PMID:31300519  
PMID:31308468   PMID:31478661   PMID:31531849   PMID:31661146   PMID:31677274   PMID:31769248   PMID:31794058   PMID:31796584   PMID:31870844   PMID:31876392   PMID:31887804   PMID:31901757  
PMID:31902369   PMID:31957232   PMID:32017203   PMID:32034735   PMID:32091183   PMID:32157177   PMID:32157794   PMID:32165296   PMID:32166892   PMID:32234057   PMID:32281291   PMID:32281708  
PMID:32296183   PMID:32323045   PMID:32335875   PMID:32379989   PMID:32406547   PMID:32419506   PMID:32442272   PMID:32513696   PMID:32519829   PMID:32588564   PMID:32589888   PMID:32687490  
PMID:32692893   PMID:32707033   PMID:32909608   PMID:33053334   PMID:33118184   PMID:33226850   PMID:33261612   PMID:33339581   PMID:33345281   PMID:33358398   PMID:33409715   PMID:33446772  
PMID:33451138   PMID:33489015   PMID:33490271   PMID:33550735   PMID:33670920   PMID:33672311   PMID:33731655   PMID:33780362   PMID:33838681   PMID:33893003   PMID:33896817   PMID:33961781  
PMID:34261485   PMID:34272483   PMID:34290266   PMID:34356072   PMID:34371012   PMID:34431227   PMID:34591612   PMID:34650049   PMID:34727246   PMID:34839354   PMID:34867934   PMID:34902613  
PMID:35044492   PMID:35172811   PMID:35181054   PMID:35327955   PMID:35587586   PMID:35696571   PMID:35748872   PMID:35842617   PMID:35909573   PMID:35915937   PMID:36069233   PMID:36131254  
PMID:36140746   PMID:36168627   PMID:36271445   PMID:36436321   PMID:36526897   PMID:36853784   PMID:36896471   PMID:36951356   PMID:37086417   PMID:37314216   PMID:37368383   PMID:37640670  
PMID:37678008   PMID:37783295   PMID:37788672   PMID:37794779   PMID:37859283   PMID:38016026   PMID:38062592   PMID:38070790   PMID:38102224   PMID:38123132   PMID:38158794   PMID:38186020  
PMID:38279475   PMID:38334954   PMID:38662258   PMID:39210235   PMID:39238192  


Genomics

Comparative Map Data
COL1A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,184,101 - 50,201,631 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,184,101 - 50,201,632 (-)EnsemblGRCh38hg38GRCh38
GRCh371748,261,462 - 48,278,992 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,616,456 - 45,633,999 (-)NCBINCBI36Build 36hg18NCBI36
Build 341745,616,455 - 45,633,992NCBI
Celera1744,722,303 - 44,739,829 (-)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,630,129 - 43,647,463 (-)NCBIHuRef
CHM1_11748,325,754 - 48,343,284 (-)NCBICHM1_1
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBIT2T-CHM13v2.0
Col1a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,827,050 - 94,843,868 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,827,050 - 94,843,868 (+)EnsemblGRCm39 Ensembl
GRCm381194,936,224 - 94,953,042 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,936,224 - 94,953,042 (+)EnsemblGRCm38mm10GRCm38
MGSCv371194,797,584 - 94,813,181 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,752,360 - 94,767,957 (+)NCBIMGSCv36mm8
Celera11104,549,617 - 104,565,301 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1159.01NCBI
Col1a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81080,380,458 - 80,397,461 (+)NCBIGRCr8
mRatBN7.21079,883,622 - 79,900,625 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,883,622 - 79,900,624 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1084,832,832 - 84,849,838 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01084,330,903 - 84,347,909 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01079,723,993 - 79,740,998 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,745,801 - 82,762,790 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,745,801 - 82,762,789 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,563,434 - 82,580,364 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,622,438 - 83,639,368 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11083,636,918 - 83,653,733 (+)NCBI
Celera1078,658,450 - 78,675,438 (+)NCBICelera
Cytogenetic Map10q26NCBI
Col1a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,468,290 - 11,483,073 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,468,156 - 11,484,410 (+)NCBIChiLan1.0ChiLan1.0
COL1A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,373,893 - 66,390,381 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,180,391 - 71,196,792 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,274,349 - 44,291,764 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,149,277 - 49,166,833 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,150,677 - 49,166,677 (-)Ensemblpanpan1.1panPan2
COL1A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,183,852 - 26,199,927 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,183,852 - 26,199,927 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,576,913 - 25,592,983 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0926,978,359 - 26,994,434 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl926,978,317 - 26,994,453 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1925,746,094 - 25,762,176 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,004,757 - 26,020,835 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,134,702 - 26,150,789 (-)NCBIUU_Cfam_GSD_1.0
Col1a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,609,297 - 25,626,616 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,448,654 - 11,464,444 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,448,552 - 11,465,836 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL1A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,379,090 - 26,397,004 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,379,087 - 26,397,180 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
COL1A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11643,134,648 - 43,152,313 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1643,134,779 - 43,150,930 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,850,099 - 13,867,746 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col1a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247956,168,797 - 6,183,071 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247956,167,504 - 6,183,208 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL1A1
2895 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000017.10:g.(?_48271508)_(48278605_?)dup duplication Osteogenesis imperfecta type I [RCV000546229] Chr17:50194147..50201244 [GRCh38]
Chr17:48271508..48278605 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2769TCCCCCTGG[3] (p.925PGP[3]) microsatellite Osteogenesis imperfecta type I [RCV000543111] Chr17:50189419..50189420 [GRCh38]
Chr17:48266780..48266781 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.103+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000549872]|not provided [RCV004787844] Chr17:50201406 [GRCh38]
Chr17:48278767 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3046-20CT[9] microsatellite COL1A1-related disorder [RCV004553175]|Osteogenesis imperfecta type I [RCV000550413] Chr17:50188799..50188800 [GRCh38]
Chr17:48266160..48266161 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) single nucleotide variant Cardiovascular phenotype [RCV002448621]|Ehlers-Danlos syndrome [RCV002279326]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125754]|Infantile cortical hyperostosis [RCV001125755]|Osteogenesis imperfecta [RCV001125753]|Osteogenesis imperfecta type I [RCV001084966]|not provided [RCV000553010] Chr17:50195262 [GRCh38]
Chr17:48272623 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.299-15C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001125941]|Infantile cortical hyperostosis [RCV001125940]|Osteogenesis imperfecta [RCV001125942]|Osteogenesis imperfecta type I [RCV002060235]|not provided [RCV003419892]|not specified [RCV000516192] Chr17:50199605 [GRCh38]
Chr17:48276966 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2615G>T (p.Gly872Val) single nucleotide variant not provided [RCV000522466] Chr17:50189731 [GRCh38]
Chr17:48267092 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3936G>A (p.Trp1312Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000552645]|not provided [RCV001545430] Chr17:50186386 [GRCh38]
Chr17:48263747 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.678del (p.Gly227fs) deletion Osteogenesis imperfecta type I [RCV000552088] Chr17:50197750 [GRCh38]
Chr17:48275111 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1013G>T (p.Gly338Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002264705]|not provided [RCV000517817] Chr17:50195966 [GRCh38]
Chr17:48273327 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) single nucleotide variant COL1A1-related disorder [RCV004553129]|not provided [RCV005000074] Chr17:50186499 [GRCh38]
Chr17:48263860 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763012]|not provided [RCV000520714] Chr17:50196172 [GRCh38]
Chr17:48273533 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1822-32del deletion not specified [RCV000518941] Chr17:50192882 [GRCh38]
Chr17:48270243 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2644C>T (p.Arg882Ter) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001535522]|Osteogenesis imperfecta [RCV002279330]|Osteogenesis imperfecta type I [RCV000542101]|not provided [RCV000578858] Chr17:50189702 [GRCh38]
Chr17:48267063 [GRCh37]
Chr17:17q21.33		 pathogenic|not provided
NM_000088.4(COL1A1):c.2806T>C (p.Ser936Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV000544055] Chr17:50189400 [GRCh38]
Chr17:48266761 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1300G>A (p.Gly434Ser) single nucleotide variant not provided [RCV000519104] Chr17:50195100 [GRCh38]
Chr17:48272461 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) single nucleotide variant Cardiovascular phenotype [RCV002329239]|Osteogenesis imperfecta type I [RCV000792484]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000765368]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005027609]|not provided [RCV000521165] Chr17:50185830 [GRCh38]
Chr17:48263191 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2408G>T (p.Gly803Val) single nucleotide variant not provided [RCV000523304] Chr17:50190370 [GRCh38]
Chr17:48267731 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1247del (p.Gly416fs) deletion Osteogenesis imperfecta type I [RCV000552075] Chr17:50195284 [GRCh38]
Chr17:48272645 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50189418_50189423delinsCGCCA indel Osteogenesis imperfecta type I [RCV000555528] Chr17:50189418..50189423 [GRCh38]
Chr17:48266779..48266784 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3540dup (p.Gly1181fs) duplication Osteogenesis imperfecta type I [RCV000556762] Chr17:50186913..50186914 [GRCh38]
Chr17:48264274..48264275 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
COL1A1, EX22DEL deletion Osteogenesis imperfecta type III [RCV000018844] Chr17:17q21.31-q22 pathogenic
COL1A1, 9-BP DEL deletion Osteogenesis imperfecta, perinatal lethal [RCV000018847] Chr17:17q21.31-q22 pathogenic
NM_000088.4(COL1A1):c.3969dup (p.Val1324fs) duplication Osteogenesis imperfecta, perinatal lethal [RCV000018849] Chr17:50186352..50186353 [GRCh38]
Chr17:48263713..48263714 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543G>A (p.Met181Ile) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000018852]|Osteogenesis imperfecta type I [RCV001851923] Chr17:50198433 [GRCh38]
Chr17:48275794 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.957+5G>A single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018862] Chr17:50196309 [GRCh38]
Chr17:48273670 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.944_1123dup (p.Gly320_Lys352delinsValSerThrProGlyProLeuGlyAspProTer) duplication Osteogenesis imperfecta, perinatal lethal [RCV000018866] Chr17:50195583..50195584 [GRCh38]
Chr17:48272944..48272945 [GRCh37]
Chr17:17q21.33		 pathogenic
COL1A1, IVS26DS, G-A, +1 single nucleotide variant Osteogenesis imperfecta type I [RCV000018869] Chr17:17q21.31-q22 pathogenic
NM_000088.4(COL1A1):c.2341_2451+60del deletion Osteogenesis imperfecta type III [RCV000018877] Chr17:50190267..50190819 [GRCh38]
Chr17:48267628..48268180 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-1G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000018880] Chr17:50198505 [GRCh38]
Chr17:48275866 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.642+1G>A single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000018882] Chr17:50197948 [GRCh38]
Chr17:48275309 [GRCh37]
Chr17:17q21.33		 pathogenic
COL1A1, 9-BP DUP duplication Osteogenesis imperfecta, recessive perinatal lethal [RCV000018885] Chr17:17q21.31-q22 pathogenic
NM_000088.4(COL1A1):c.1845_1847del (p.Glu615_Ala616delinsAsp) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV000018886] Chr17:50192825..50192827 [GRCh38]
Chr17:48270186..48270188 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1299+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV000018887]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000018888] Chr17:50195231 [GRCh38]
Chr17:48272592 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-2A>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000018893] Chr17:50198506 [GRCh38]
Chr17:48275867 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003631207]|not provided [RCV001571038] Chr17:50187872 [GRCh38]
Chr17:48265233 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1689T>C (p.Gly563=) single nucleotide variant Osteogenesis imperfecta type I [RCV000541759] Chr17:50194021 [GRCh38]
Chr17:48271382 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.801_802del (p.His267fs) microsatellite Osteogenesis imperfecta [RCV000722163] Chr17:50197012..50197013 [GRCh38]
Chr17:48274373..48274374 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) single nucleotide variant Cardiovascular phenotype [RCV002420357]|Osteogenesis imperfecta [RCV002279328]|Osteogenesis imperfecta type I [RCV001079564]|not provided [RCV001712486] Chr17:50191800 [GRCh38]
Chr17:48269161 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4189G>A (p.Glu1397Lys) single nucleotide variant Cardiovascular phenotype [RCV004992591]|not provided [RCV003321133] Chr17:50185837 [GRCh38]
Chr17:48263198 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1652del (p.Gly551fs) deletion not provided [RCV000518147] Chr17:50194146 [GRCh38]
Chr17:48271507 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4339del (p.Val1447fs) deletion Osteogenesis imperfecta [RCV000722162] Chr17:50185558 [GRCh38]
Chr17:48262919 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1121G>C (p.Gly374Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003517215]|not provided [RCV000518629] Chr17:50195601 [GRCh38]
Chr17:48272962 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.805-36_810del deletion not provided [RCV000518812] Chr17:50196665..50196706 [GRCh38]
Chr17:48274026..48274067 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.731_732insC (p.Gly245fs) insertion Osteogenesis imperfecta type I [RCV000545135] Chr17:50197198..50197199 [GRCh38]
Chr17:48274559..48274560 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3566C>A (p.Pro1189His) single nucleotide variant Osteogenesis imperfecta type I [RCV000549852] Chr17:50186888 [GRCh38]
Chr17:48264249 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.3(COL1A1):c.3188_3190delGTGins13 (p.?) indel not provided [RCV000517223] Chr17:50188547..50188549 [GRCh38]
Chr17:48265908..48265910 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+5G>C single nucleotide variant COL1A1-related disorder [RCV004553178]|Osteogenesis imperfecta type I [RCV000547028] Chr17:50187871 [GRCh38]
Chr17:48265232 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1772_1773del (p.Glu591fs) microsatellite Osteogenesis imperfecta type I [RCV000549685] Chr17:50193042..50193043 [GRCh38]
Chr17:48270403..48270404 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1462G>A (p.Gly488Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000547846]|not provided [RCV000521607] Chr17:50194626 [GRCh38]
Chr17:48271987 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) single nucleotide variant Cardiovascular phenotype [RCV002330826]|Osteogenesis imperfecta [RCV002279325]|Osteogenesis imperfecta type I [RCV001085656]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002497060]|not provided [RCV000710756]|not specified [RCV000593224] Chr17:50195466 [GRCh38]
Chr17:48272827 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3407G>C (p.Gly1136Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000559468] Chr17:50187500 [GRCh38]
Chr17:48264861 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1929+4A>C single nucleotide variant Osteogenesis imperfecta type I [RCV000817511]|not specified [RCV000516424] Chr17:50192636 [GRCh38]
Chr17:48269997 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.104-284C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001526437] Chr17:50200231 [GRCh38]
Chr17:48277592 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) single nucleotide variant Cardiovascular phenotype [RCV002330828]|Osteogenesis imperfecta type I [RCV001085794]|not provided [RCV000710773]|not specified [RCV000610149] Chr17:50185616 [GRCh38]
Chr17:48262977 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) single nucleotide variant Cardiovascular phenotype [RCV002431534]|Osteogenesis imperfecta [RCV002279329]|Osteogenesis imperfecta type I [RCV001257061]|not provided [RCV000710762]|not specified [RCV000616901] Chr17:50191443 [GRCh38]
Chr17:48268804 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT indel Cardiovascular phenotype [RCV004609419]|not provided [RCV005000075] Chr17:50196544..50196545 [GRCh38]
Chr17:48273905..48273906 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3313A>G (p.Arg1105Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV002525224]|not provided [RCV000521851] Chr17:50187932 [GRCh38]
Chr17:48265293 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2139del (p.Ala714fs) deletion Osteogenesis imperfecta type I [RCV000546354] Chr17:50191479 [GRCh38]
Chr17:48268840 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.824G>A (p.Gly275Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018825] Chr17:50196651 [GRCh38]
Chr17:48274012 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys) single nucleotide variant Infantile cortical hyperostosis [RCV002247357]|Osteogenesis imperfecta type I [RCV000018826] Chr17:50196661 [GRCh38]
Chr17:48274022 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057G>T (p.Gly353Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002513110]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000018827] Chr17:50195665 [GRCh38]
Chr17:48273026 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1705G>C (p.Gly569Arg) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018828] Chr17:50194005 [GRCh38]
Chr17:48271366 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2110G>T (p.Gly704Cys) single nucleotide variant Osteogenesis imperfecta type III [RCV000018829]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490665] Chr17:50191805 [GRCh38]
Chr17:48269166 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2210G>A (p.Gly737Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018830] Chr17:50191408 [GRCh38]
Chr17:48268769 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2552G>A (p.Gly851Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018831] Chr17:50190008 [GRCh38]
Chr17:48267369 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2533G>A (p.Gly845Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001236925]|Osteogenesis imperfecta, perinatal lethal [RCV000018832]|not provided [RCV000991594] Chr17:50190027 [GRCh38]
Chr17:48267388 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2605G>T (p.Gly869Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018833]|not provided [RCV002464069] Chr17:50189867 [GRCh38]
Chr17:48267228 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2686G>T (p.Gly896Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018834] Chr17:50189520 [GRCh38]
Chr17:48266881 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2776G>T (p.Gly926Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018835] Chr17:50189430 [GRCh38]
Chr17:48266791 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3028G>A (p.Gly1010Ser) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000018836] Chr17:50188920 [GRCh38]
Chr17:48266281 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3064G>A (p.Gly1022Ser) single nucleotide variant COL1A1-related disorder [RCV004549376]|Osteogenesis imperfecta type III [RCV000018837] Chr17:50188777 [GRCh38]
Chr17:48266138 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3073G>A (p.Gly1025Arg) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018838] Chr17:50188768 [GRCh38]
Chr17:48266129 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3182G>A (p.Gly1061Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018839] Chr17:50188555 [GRCh38]
Chr17:48265916 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018840] Chr17:50188113 [GRCh38]
Chr17:48265474 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3271G>A (p.Gly1091Ser) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018841] Chr17:50187974 [GRCh38]
Chr17:48265335 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3496G>T (p.Gly1166Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018842] Chr17:50187050 [GRCh38]
Chr17:48264411 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3559G>A (p.Gly1187Ser) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018843] Chr17:50186895 [GRCh38]
Chr17:48264256 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3583G>T (p.Gly1195Cys) single nucleotide variant Osteogenesis imperfecta [RCV000018845] Chr17:50186871 [GRCh38]
Chr17:48264232 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4358_4362del (p.Glu1453fs) deletion Osteogenesis imperfecta type I [RCV000018848] Chr17:50185535..50185539 [GRCh38]
Chr17:48262896..48262900 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1066G>T (p.Gly356Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000018850] Chr17:50195656 [GRCh38]
Chr17:48273017 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2156G>A (p.Gly719Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018851] Chr17:50191462 [GRCh38]
Chr17:48268823 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.994G>A (p.Gly332Arg) single nucleotide variant COL1A1-related disorder [RCV004549377]|Osteogenesis imperfecta [RCV000029586]|Osteogenesis imperfecta type I [RCV000692051]|Osteogenesis imperfecta type III [RCV000018853]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490676]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763413]|not provided [RCV000480634] Chr17:50196163 [GRCh38]
Chr17:48273524 [GRCh37]
Chr17:17q21.33		 pathogenic|likely benign
NM_000088.4(COL1A1):c.3541G>A (p.Gly1181Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV004558269]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004795927]|Osteogenesis imperfecta, perinatal lethal [RCV000018854]|not provided [RCV001811189] Chr17:50186913 [GRCh38]
Chr17:48264274 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2444G>T (p.Gly815Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018855] Chr17:50190334 [GRCh38]
Chr17:48267695 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1777G>T (p.Gly593Cys) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV004795928]|Osteogenesis imperfecta, type III/IV [RCV000018856] Chr17:50193038 [GRCh38]
Chr17:48270399 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.787G>A (p.Gly263Arg) single nucleotide variant Osteogenesis imperfecta [RCV000018857] Chr17:50197027 [GRCh38]
Chr17:48274388 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3551G>T (p.Gly1184Val) single nucleotide variant OSTEOGENESIS IMPERFECTA, TYPE IIC [RCV000018858] Chr17:50186903 [GRCh38]
Chr17:48264264 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3452G>T (p.Gly1151Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018859]|not provided [RCV000657897] Chr17:50187094 [GRCh38]
Chr17:48264455 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1301G>T (p.Gly434Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018860] Chr17:50195099 [GRCh38]
Chr17:48272460 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.661G>T (p.Gly221Cys) single nucleotide variant Osteogenesis imperfecta type 1, mild [RCV000018861]|Osteogenesis imperfecta type I [RCV001385346] Chr17:50197767 [GRCh38]
Chr17:48275128 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3235G>A (p.Gly1079Ser) single nucleotide variant COL1A1-related disorder [RCV004549378]|Osteogenesis imperfecta type I [RCV000018863]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004795929]|not provided [RCV001596935] Chr17:50188122 [GRCh38]
Chr17:48265483 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2939G>T (p.Gly980Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018864]|not provided [RCV003228896] Chr17:50189009 [GRCh38]
Chr17:48266370 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1588G>A (p.Gly530Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000548768]|Osteogenesis imperfecta type III [RCV000018865]|not provided [RCV003327362] Chr17:50194375 [GRCh38]
Chr17:48271736 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) single nucleotide variant Abnormality of the skeletal system [RCV001813997]|Hypertelorism [RCV000626590]|Osteogenesis imperfecta, perinatal lethal [RCV000018867]|not provided [RCV001596936] Chr17:50193038 [GRCh38]
Chr17:48270399 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2228G>T (p.Gly743Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018868] Chr17:50191390 [GRCh38]
Chr17:48268751 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1598G>A (p.Gly533Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018870] Chr17:50194365 [GRCh38]
Chr17:48271726 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3118G>A (p.Gly1040Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001245193]|Osteogenesis imperfecta type III [RCV000018871]|not provided [RCV000518360] Chr17:50188619 [GRCh38]
Chr17:48265980 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2515G>A (p.Gly839Ser) single nucleotide variant Osteogenesis imperfecta type III [RCV000018872]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490682] Chr17:50190045 [GRCh38]
Chr17:48267406 [GRCh37]
Chr17:17q21.33		 pathogenic|likely benign
NM_000088.4(COL1A1):c.4391T>C (p.Leu1464Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV003517128]|Osteogenesis imperfecta type III [RCV000018873] Chr17:50185506 [GRCh38]
Chr17:48262867 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.104-441= single nucleotide variant Bone mineral density variation quantitative trait locus [RCV000018874] Chr17:50200388 [GRCh38]
Chr17:48277749 [GRCh37]
Chr17:17q21.33		 association
NM_000088.4(COL1A1):c.572G>C (p.Gly191Ala) single nucleotide variant Osteogenesis imperfecta type 1, mild [RCV000018875]|Osteogenesis imperfecta type I [RCV001242940] Chr17:50198177 [GRCh38]
Chr17:48275538 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3936G>T (p.Trp1312Cys) single nucleotide variant Osteogenesis imperfecta type 2, thin-bone [RCV000018876] Chr17:50186386 [GRCh38]
Chr17:48263747 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter) single nucleotide variant Osteogenesis imperfecta [RCV000582506]|Osteogenesis imperfecta type I [RCV000018878]|not provided [RCV000599479] Chr17:50187486 [GRCh38]
Chr17:48264847 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2291G>T (p.Gly764Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000018879] Chr17:50190869 [GRCh38]
Chr17:48268230 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50203629= single nucleotide variant Bone mineral density variation quantitative trait locus [RCV000018881] Chr17:50203629 [GRCh38]
Chr17:48280990 [GRCh37]
Chr17:17q21.33		 association
NM_000088.3(COL1A1):c.-1782delT deletion Bone mineral density variation quantitative trait locus [RCV000018883] Chr17:50203295 [GRCh38]
Chr17:48280656 [GRCh37]
Chr17:17q21.33		 association
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys) single nucleotide variant Bruising susceptibility [RCV000415259]|Ehlers-Danlos syndrome [RCV002276563]|Ehlers-Danlos syndrome, classic type [RCV000018884]|Osteogenesis imperfecta type I [RCV000631472]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198512]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002496407]|not provided [RCV003225023] Chr17:50196337 [GRCh38]
Chr17:48273698 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys) single nucleotide variant Infantile cortical hyperostosis [RCV000018889]|Osteogenesis imperfecta type I [RCV000685879]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763407]|not provided [RCV000420639] Chr17:50188908 [GRCh38]
Chr17:48266269 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.572G>A (p.Gly191Asp) single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV000018891]|Osteogenesis imperfecta type I [RCV004018642] Chr17:50198177 [GRCh38]
Chr17:48275538 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.761G>A (p.Gly254Glu) single nucleotide variant Osteogenesis imperfecta type III [RCV000018892] Chr17:50197053 [GRCh38]
Chr17:48274414 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys) single nucleotide variant Osteogenesis imperfecta [RCV000029551] Chr17:50195958 [GRCh38]
Chr17:48273319 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) single nucleotide variant COL1A1-related disorder [RCV004737164]|Cardiovascular phenotype [RCV002399337]|Ehlers-Danlos syndrome [RCV002276573]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000320157]|Familial thoracic aortic aneurysm and aortic dissection [RCV000599940]|Infantile cortical hyperostosis [RCV000262664]|Osteogenesis imperfecta [RCV000367913]|Osteogenesis imperfecta type I [RCV000560142]|not provided [RCV000521409]|not specified [RCV000029552] Chr17:50195937 [GRCh38]
Chr17:48273298 [GRCh37]
Chr17:17q21.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1200+1G>A single nucleotide variant Osteogenesis imperfecta [RCV000029553]|Osteogenesis imperfecta type I [RCV001043307] Chr17:50195433 [GRCh38]
Chr17:48272794 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg) single nucleotide variant Osteogenesis imperfecta [RCV000029554] Chr17:50195296 [GRCh38]
Chr17:48272657 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1299+5G>A single nucleotide variant Cardiovascular phenotype [RCV002381264]|Osteogenesis imperfecta [RCV000029555]|Osteogenesis imperfecta type I [RCV000688895] Chr17:50195227 [GRCh38]
Chr17:48272588 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala) single nucleotide variant Osteogenesis imperfecta [RCV000029556] Chr17:50194419 [GRCh38]
Chr17:48271780 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) single nucleotide variant Cardiovascular phenotype [RCV002399338]|Osteogenesis imperfecta type I [RCV000989947]|not provided [RCV000755939]|not specified [RCV003323365] Chr17:50194380 [GRCh38]
Chr17:48271741 [GRCh37]
Chr17:17q21.33		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1657del (p.Thr553fs) deletion Osteogenesis imperfecta [RCV000029558] Chr17:50194141 [GRCh38]
Chr17:48271502 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1768-8C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001125671]|Infantile cortical hyperostosis [RCV001125670]|Osteogenesis imperfecta [RCV000029559]|Osteogenesis imperfecta type I [RCV000872415]|See cases [RCV002251930]|not provided [RCV001703422] Chr17:50193055 [GRCh38]
Chr17:48270416 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1812del (p.Gly605fs) deletion COL1A1-related disorder [RCV004549389]|Osteogenesis imperfecta [RCV000029560]|Osteogenesis imperfecta type I [RCV001807741]|Osteogenesis imperfecta type III [RCV002470719] Chr17:50193003 [GRCh38]
Chr17:48270364 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) single nucleotide variant Cardiovascular phenotype [RCV002408480]|Osteogenesis imperfecta [RCV000029561]|Osteogenesis imperfecta type I [RCV001087782]|not provided [RCV000585102]|not specified [RCV004562218] Chr17:50192687 [GRCh38]
Chr17:48270048 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter) single nucleotide variant Osteogenesis imperfecta [RCV000029562]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005016298]|not provided [RCV001575593] Chr17:50191853 [GRCh38]
Chr17:48269214 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter) single nucleotide variant Osteogenesis imperfecta [RCV000029563]|not provided [RCV000403934] Chr17:50191457 [GRCh38]
Chr17:48268818 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2236-17C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002054483]|not provided [RCV000710763]|not specified [RCV003234923] Chr17:50190941 [GRCh38]
Chr17:48268302 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2398-1G>C single nucleotide variant Osteogenesis imperfecta [RCV000029565]|Osteogenesis imperfecta type I [RCV002513241] Chr17:50190381 [GRCh38]
Chr17:48267742 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2418del (p.Gly809fs) deletion Osteogenesis imperfecta [RCV000029566] Chr17:50190360 [GRCh38]
Chr17:48267721 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2450del (p.Pro817fs) deletion Osteogenesis imperfecta [RCV000029567]|Osteogenesis imperfecta type I [RCV000706566] Chr17:50190328 [GRCh38]
Chr17:48267689 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2452-23del deletion Osteogenesis imperfecta [RCV000029568]|not provided [RCV001553256] Chr17:50190131 [GRCh38]
Chr17:48267492 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) single nucleotide variant Cardiovascular phenotype [RCV004018683]|Ehlers-Danlos syndrome, arthrochalasia type [RCV003137543]|Osteogenesis imperfecta [RCV000029569]|Osteogenesis imperfecta type I [RCV001247065] Chr17:50189878 [GRCh38]
Chr17:48267239 [GRCh37]
Chr17:17q21.33		 likely pathogenic|benign|uncertain significance
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) single nucleotide variant Cardiovascular phenotype [RCV002426520]|Ehlers-Danlos syndrome [RCV002276574]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000300080]|Infantile cortical hyperostosis [RCV000368843]|Osteogenesis imperfecta [RCV000029570]|Osteogenesis imperfecta type I [RCV000527836]|not provided [RCV001703423]|not specified [RCV000177893] Chr17:50189877 [GRCh38]
Chr17:48267238 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2685del (p.Gly896fs) deletion Osteogenesis imperfecta [RCV000029571]|Osteogenesis imperfecta type I [RCV000804992]|not provided [RCV000518260] Chr17:50189521 [GRCh38]
Chr17:48266882 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg) single nucleotide variant Osteogenesis imperfecta [RCV000029572] Chr17:50189208 [GRCh38]
Chr17:48266569 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) single nucleotide variant Cardiovascular phenotype [RCV002433474]|Connective tissue disorder [RCV000680480]|Ehlers-Danlos syndrome [RCV002276575]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125488]|Familial thoracic aortic aneurysm and aortic dissection [RCV000607797]|Infantile cortical hyperostosis [RCV001125487]|Osteogenesis imperfecta [RCV001125486]|Osteogenesis imperfecta type I [RCV000537025]|not provided [RCV001535421]|not specified [RCV000608881] Chr17:50189173 [GRCh38]
Chr17:48266534 [GRCh37]
Chr17:17q21.33		 likely pathogenic|benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.299_300delAG microsatellite Osteogenesis imperfecta [RCV000029574]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002470720] Chr17:50199589..50199590 [GRCh38]
Chr17:48276950..48276951 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3076C>T (p.Arg1026Ter) single nucleotide variant Abnormality of the skeletal system [RCV001814012]|COL1A1-related disorder [RCV004737165]|Infantile cortical hyperostosis [RCV001535575]|Osteogenesis imperfecta [RCV000029575]|Osteogenesis imperfecta type I [RCV000551341]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002504826]|not provided [RCV000498745] Chr17:50188765 [GRCh38]
Chr17:48266126 [GRCh37]
Chr17:17q21.33		 pathogenic|not provided
NM_000088.4(COL1A1):c.370-2A>G single nucleotide variant Osteogenesis imperfecta [RCV000029576] Chr17:50199329 [GRCh38]
Chr17:48276690 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) single nucleotide variant Cardiovascular phenotype [RCV002354170]|Ehlers-Danlos syndrome [RCV002276576]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000282297]|Infantile cortical hyperostosis [RCV000371828]|Osteogenesis imperfecta [RCV000029577]|Osteogenesis imperfecta type I [RCV001082013]|not provided [RCV000435034]|not specified [RCV000616161] Chr17:50186425 [GRCh38]
Chr17:48263786 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4006-9C>T single nucleotide variant Osteogenesis imperfecta [RCV000029578]|Osteogenesis imperfecta type I [RCV002054484] Chr17:50186029 [GRCh38]
Chr17:48263390 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter) single nucleotide variant Osteogenesis imperfecta [RCV000029579]|Osteogenesis imperfecta type I [RCV001852590] Chr17:50198459 [GRCh38]
Chr17:48275820 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.579del (p.Gly194fs) deletion Osteogenesis imperfecta [RCV000029580]|Osteogenesis imperfecta type I [RCV000490677]|Postmenopausal osteoporosis [RCV001526512]|not provided [RCV000627432] Chr17:50198170 [GRCh38]
Chr17:48275531 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|likely benign
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) single nucleotide variant Cardiovascular phenotype [RCV002354171]|Osteogenesis imperfecta [RCV000029581]|Osteogenesis imperfecta type I [RCV000538715]|not provided [RCV001701642]|not specified [RCV000611574] Chr17:50197979 [GRCh38]
Chr17:48275340 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.642+25T>C single nucleotide variant Osteogenesis imperfecta [RCV000029582]|not provided [RCV001650845] Chr17:50197924 [GRCh38]
Chr17:48275285 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.751-2A>G single nucleotide variant Osteogenesis imperfecta [RCV000029583]|Osteogenesis imperfecta type I [RCV000798967] Chr17:50197065 [GRCh38]
Chr17:48274426 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser) single nucleotide variant Osteogenesis imperfecta [RCV000029584]|Osteogenesis imperfecta type I [RCV001852591] Chr17:50196670 [GRCh38]
Chr17:48274031 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.904-9G>T single nucleotide variant Connective tissue disorder [RCV000659349]|Ehlers-Danlos syndrome [RCV002276577]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125836]|Infantile cortical hyperostosis [RCV001127944]|Osteogenesis imperfecta [RCV001127945]|Osteogenesis imperfecta type I [RCV001084866]|not provided [RCV000710775]|not specified [RCV000248029] Chr17:50196376 [GRCh38]
Chr17:48273737 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) single nucleotide variant COL1A1-related disorder [RCV004549390]|Cardiovascular phenotype [RCV002381265]|Ehlers-Danlos syndrome [RCV002276578]|Osteogenesis imperfecta [RCV000029587]|Osteogenesis imperfecta type I [RCV000876823]|not provided [RCV001697131] Chr17:50196158 [GRCh38]
Chr17:48273519 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1084G>A (p.Gly362Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003163499]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001196899] Chr17:50195638 [GRCh38]
Chr17:48272999 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.103+16T>C single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV001197330] Chr17:50201395 [GRCh38]
Chr17:48278756 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4247del (p.Thr1416fs) deletion Osteogenesis imperfecta, perinatal lethal [RCV000034354] Chr17:50185779 [GRCh38]
Chr17:48263140 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4160C>T (p.Ala1387Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV000034355] Chr17:50185866 [GRCh38]
Chr17:48263227 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001852105]|not provided [RCV000173063] Chr17:50201423 [GRCh38]
Chr17:48278784 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
NM_000088.4(COL1A1):c.1400G>A (p.Gly467Glu) single nucleotide variant Infantile cortical hyperostosis [RCV002052292] Chr17:50194782 [GRCh38]
Chr17:48272143 [GRCh37]
Chr17:45627142 [NCBI36]
Chr17:17q21.33		 likely pathogenic|not provided
NM_000088.3(COL1A1):c.1069C>T (p.Pro357Ser) single nucleotide variant Malignant melanoma [RCV000071556] Chr17:50195653 [GRCh38]
Chr17:48273014 [GRCh37]
Chr17:45628013 [NCBI36]
Chr17:17q21.33		 not provided
NM_000088.3(COL1A1):c.343G>A (p.Gly115Arg) single nucleotide variant Malignant melanoma [RCV000071557] Chr17:50199444 [GRCh38]
Chr17:48276805 [GRCh37]
Chr17:45631804 [NCBI36]
Chr17:17q21.33		 not provided
NM_000088.3(COL1A1):c.1837G>A (p.Asp613Asn) single nucleotide variant Malignant melanoma [RCV000063243] Chr17:50192835 [GRCh38]
Chr17:48270196 [GRCh37]
Chr17:45625195 [NCBI36]
Chr17:17q21.33		 not provided
NM_000088.4(COL1A1):c.3245del (p.Gly1082fs) deletion Osteogenesis imperfecta type I [RCV000659359] Chr17:50188112 [GRCh38]
Chr17:48265473 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.751G>T (p.Gly251Cys) single nucleotide variant not provided [RCV000657899] Chr17:50197063 [GRCh38]
Chr17:48274424 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2235+15C>T single nucleotide variant Connective tissue disorder [RCV000659354]|Osteogenesis imperfecta type I [RCV002066956] Chr17:50191368 [GRCh38]
Chr17:48268729 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3424-10C>T single nucleotide variant not specified [RCV000603222] Chr17:50187132 [GRCh38]
Chr17:48264493 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3622A>T (p.Lys1208Ter) single nucleotide variant not provided [RCV000171259] Chr17:50186832 [GRCh38]
Chr17:48264193 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2668-11T>G single nucleotide variant not provided [RCV000171260] Chr17:50189549 [GRCh38]
Chr17:48266910 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2354G>A (p.Gly785Asp) single nucleotide variant not provided [RCV000171261] Chr17:50190586 [GRCh38]
Chr17:48267947 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1002+2T>A single nucleotide variant not provided [RCV000171262] Chr17:50196153 [GRCh38]
Chr17:48273514 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3768_3769dup (p.Arg1257fs) duplication Osteogenesis imperfecta type I [RCV001248518] Chr17:50186684..50186685 [GRCh38]
Chr17:48264045..48264046 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.887G>C (p.Gly296Ala) single nucleotide variant Osteogenesis imperfecta [RCV000722164] Chr17:50196500 [GRCh38]
Chr17:48273861 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1456G>A (p.Glu486Lys) single nucleotide variant Connective tissue disorder [RCV000659351]|Osteogenesis imperfecta type I [RCV003631152] Chr17:50194726 [GRCh38]
Chr17:48272087 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3945C>T (p.Ser1315=) single nucleotide variant Cardiovascular phenotype [RCV004993917]|Connective tissue disorder [RCV000659362]|Osteogenesis imperfecta type I [RCV000820974] Chr17:50186377 [GRCh38]
Chr17:48263738 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003517139]|not provided [RCV000174826] Chr17:50196198 [GRCh38]
Chr17:48273559 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3277C>T (p.Arg1093Cys) single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV002288660]|Ehlers-Danlos syndrome [RCV002277297]|Malignant tumor of prostate [RCV000148991]|Osteogenesis imperfecta type I [RCV000631466]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002492548]|not provided [RCV001753528] Chr17:50187968 [GRCh38]
Chr17:48265329 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1300-8C>T single nucleotide variant Ehlers-Danlos syndrome [RCV002277370]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000347846]|Infantile cortical hyperostosis [RCV000290584]|Osteogenesis imperfecta [RCV000407886]|Osteogenesis imperfecta type I [RCV001080497]|not provided [RCV000710757]|not specified [RCV000176025] Chr17:50195108 [GRCh38]
Chr17:48272469 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) single nucleotide variant COL1A1-related disorder [RCV004552984]|Cardiovascular phenotype [RCV002408766]|Ehlers-Danlos syndrome [RCV002277381]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000357800]|Infantile cortical hyperostosis [RCV000323067]|Osteogenesis imperfecta [RCV000265657]|Osteogenesis imperfecta type I [RCV001087529]|not provided [RCV000556050]|not specified [RCV000176717] Chr17:50192799 [GRCh38]
Chr17:48270160 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1984-5C>A single nucleotide variant COL1A1-related disorder [RCV004552992]|Cardiovascular phenotype [RCV002415762]|Connective tissue disorder [RCV000659353]|Ehlers-Danlos syndrome [RCV002277393]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125582]|Ehlers-Danlos/osteogenesis imperfecta syndrome [RCV003993859]|Infantile cortical hyperostosis [RCV001127681]|Osteogenesis imperfecta [RCV001127682]|Osteogenesis imperfecta type I [RCV000989945]|not provided [RCV000514224]|not specified [RCV000177437] Chr17:50192029 [GRCh38]
Chr17:48269390 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) single nucleotide variant Cardiovascular phenotype [RCV002444713]|Connective tissue disorder [RCV000659358]|Ehlers-Danlos syndrome [RCV002277405]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127485]|Infantile cortical hyperostosis [RCV001127486]|Osteogenesis imperfecta [RCV001127484]|Osteogenesis imperfecta type I [RCV000553105]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002503689]|not provided [RCV003114328]|not specified [RCV000178543] Chr17:50188114 [GRCh38]
Chr17:48265475 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3531+10C>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277409]|Osteogenesis imperfecta [RCV002277408]|Osteogenesis imperfecta type I [RCV000548921]|not provided [RCV001579373]|not specified [RCV000178614] Chr17:50187005 [GRCh38]
Chr17:48264366 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.64G>C (p.Gly22Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002543013]|Wiedemann-Rautenstrauch-like progeroid syndrome [RCV001291257] Chr17:50201450 [GRCh38]
Chr17:48278811 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4249-12G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000349228]|Infantile cortical hyperostosis [RCV000313316]|Osteogenesis imperfecta [RCV000407494]|Osteogenesis imperfecta type I [RCV002054127]|not provided [RCV004709350]|not specified [RCV000179080] Chr17:50185660 [GRCh38]
Chr17:48263021 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2773C>G (p.Pro925Ala) single nucleotide variant Ehlers-Danlos syndrome, classic type, 1 [RCV001333193]|Osteogenesis imperfecta type I [RCV001298078]|not provided [RCV001565654] Chr17:50189433 [GRCh38]
Chr17:48266794 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000256401] Chr17:50186387 [GRCh38]
Chr17:48263748 [GRCh37]
Chr17:17q21.33		 likely pathogenic
GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1 copy number loss See cases [RCV000139901] Chr17:49361155..50269440 [GRCh38]
Chr17:47438517..48346801 [GRCh37]
Chr17:44793516..45701800 [NCBI36]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) single nucleotide variant Cardiovascular phenotype [RCV002354572]|Connective tissue disorder [RCV000659348]|Ehlers-Danlos syndrome [RCV002277557]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001124960]|Infantile cortical hyperostosis [RCV001124961]|Osteogenesis imperfecta [RCV000487429]|Osteogenesis imperfecta type I [RCV001082142]|not provided [RCV000224220]|not specified [RCV000203035] Chr17:50197978 [GRCh38]
Chr17:48275339 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_000088.4(COL1A1):c.1318G>A (p.Gly440Ser) single nucleotide variant not provided [RCV000370284] Chr17:50195082 [GRCh38]
Chr17:48272443 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1405C>T (p.Arg469Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000818022]|not provided [RCV000254741] Chr17:50194777 [GRCh38]
Chr17:48272138 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) single nucleotide variant not provided [RCV000254780] Chr17:50187067 [GRCh38]
Chr17:48264428 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003631093]|not provided [RCV000178451] Chr17:50188923 [GRCh38]
Chr17:48266284 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.3(COL1A1):c.3046-5_3046-4insCTCT insertion not provided [RCV000514911]|not specified [RCV000178477] Chr17:50188799..50188800 [GRCh38]
Chr17:48266160..48266161 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) single nucleotide variant Cardiovascular phenotype [RCV002444712]|Osteogenesis imperfecta type I [RCV000534294]|not provided [RCV000178478] Chr17:50188781 [GRCh38]
Chr17:48266142 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) single nucleotide variant Cardiovascular phenotype [RCV002321706]|Ehlers-Danlos syndrome [RCV002277403]|Osteogenesis imperfecta type I [RCV000539797]|not provided [RCV001721123]|not specified [RCV000178513] Chr17:50188614 [GRCh38]
Chr17:48265975 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.3761A>C (p.Asn1254Thr) single nucleotide variant not provided [RCV000178643] Chr17:50186693 [GRCh38]
Chr17:48264054 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.104-1G>T single nucleotide variant not provided [RCV000579263] Chr17:50199948 [GRCh38]
Chr17:48277309 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1767+2T>G single nucleotide variant not provided [RCV000275648] Chr17:50193941 [GRCh38]
Chr17:48271302 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) single nucleotide variant Cardiovascular phenotype [RCV002433775]|Osteogenesis imperfecta type I [RCV001083073]|not provided [RCV000177856] Chr17:50190052 [GRCh38]
Chr17:48267413 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2866G>A (p.Gly956Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000191071] Chr17:50189239 [GRCh38]
Chr17:48266600 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1615-4C>A single nucleotide variant Cardiovascular phenotype [RCV002401984]|Ehlers-Danlos syndrome [RCV002278282]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000351973]|Infantile cortical hyperostosis [RCV000386610]|Osteogenesis imperfecta [RCV000294729]|Osteogenesis imperfecta type I [RCV001082012]|not provided [RCV000444133]|not specified [RCV000292542] Chr17:50194187 [GRCh38]
Chr17:48271548 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.770G>A (p.Gly257Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV000545904] Chr17:50197044 [GRCh38]
Chr17:48274405 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.419_420delinsCC (p.Leu140Pro) indel Osteogenesis imperfecta type I [RCV000548441] Chr17:50199277..50199278 [GRCh38]
Chr17:48276638..48276639 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3162del (p.Gly1055fs) deletion COL1A1-related disorder [RCV004547696]|Osteogenesis imperfecta type I [RCV002521935]|not provided [RCV000301937] Chr17:50188575 [GRCh38]
Chr17:48265936 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) single nucleotide variant Cardiovascular phenotype [RCV002418117]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000285364]|Infantile cortical hyperostosis [RCV000320414]|Osteogenesis imperfecta [RCV000379767]|Osteogenesis imperfecta type I [RCV000694080]|not provided [RCV000725614] Chr17:50191799 [GRCh38]
Chr17:48269160 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.472-1G>C single nucleotide variant not provided [RCV000281363] Chr17:50198505 [GRCh38]
Chr17:48275866 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1875+1G>C single nucleotide variant not provided [RCV000374239] Chr17:50192796 [GRCh38]
Chr17:48270157 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) single nucleotide variant Cardiovascular phenotype [RCV002411157]|Ehlers-Danlos syndrome [RCV002278298]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000316916]|Infantile cortical hyperostosis [RCV000259291]|Osteogenesis imperfecta [RCV000379980]|Osteogenesis imperfecta type I [RCV001081177]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002502134]|not provided [RCV000710761]|not specified [RCV000336222] Chr17:50192994 [GRCh38]
Chr17:48270355 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.757C>T (p.Arg253Ter) single nucleotide variant Osteogenesis imperfecta [RCV002278252]|Osteogenesis imperfecta type I [RCV000631490]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796141]|not provided [RCV000255304] Chr17:50197057 [GRCh38]
Chr17:48274418 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3123del (p.Ala1042fs) deletion Osteogenesis imperfecta type I [RCV001859490]|not provided [RCV000255369] Chr17:50188614 [GRCh38]
Chr17:48265975 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3965G>A (p.Arg1322Lys) single nucleotide variant Cardiovascular phenotype [RCV002358440]|Ehlers-Danlos syndrome [RCV002279335]|Osteogenesis imperfecta type I [RCV000557955]|not provided [RCV001568011] Chr17:50186357 [GRCh38]
Chr17:48263718 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2593C>T (p.Arg865Cys) single nucleotide variant not provided [RCV000519033] Chr17:50189879 [GRCh38]
Chr17:48267240 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.868G>C (p.Gly290Arg) single nucleotide variant not provided [RCV000518578] Chr17:50196519 [GRCh38]
Chr17:48273880 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2362G>A (p.Gly788Ser) single nucleotide variant COL1A1-related disorder [RCV004553128]|Osteogenesis imperfecta type I [RCV000707194]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763408]|not provided [RCV000516519] Chr17:50190578 [GRCh38]
Chr17:48267939 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.391C>A (p.Arg131=) single nucleotide variant COL1A1-related disorder [RCV004553577]|COL1A1-related osteogenesis imperfecta [RCV001352694]|Cardiovascular phenotype [RCV002372774]|Osteogenesis imperfecta type I [RCV001042968] Chr17:50199306 [GRCh38]
Chr17:48276667 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2650G>A (p.Gly884Ser) single nucleotide variant COL1A1-related disorder [RCV004547947]|not provided [RCV000755940] Chr17:50189696 [GRCh38]
Chr17:48267057 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4090C>T (p.Gln1364Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000558998] Chr17:50185936 [GRCh38]
Chr17:48263297 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2136T>G (p.Ala712=) single nucleotide variant Osteogenesis imperfecta type I [RCV001493917] Chr17:50191482 [GRCh38]
Chr17:48268843 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2028+2T>G single nucleotide variant Osteogenesis imperfecta type I [RCV000552461] Chr17:50191978 [GRCh38]
Chr17:48269339 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) single nucleotide variant COL1A1-related disorder [RCV004547573]|Cardiovascular phenotype [RCV002354626]|Connective tissue disorder [RCV000659363]|Ehlers-Danlos syndrome [RCV002277585]|Osteogenesis imperfecta type I [RCV001089449]|not provided [RCV000224096]|not specified [RCV000602706] Chr17:50186008 [GRCh38]
Chr17:48263369 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1300-8C>G single nucleotide variant Ehlers-Danlos syndrome [RCV002277580]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000407899]|Infantile cortical hyperostosis [RCV000360518]|Osteogenesis imperfecta [RCV000303387]|Osteogenesis imperfecta type I [RCV000546012]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002500751]|not provided [RCV000224533]|not specified [RCV000443679] Chr17:50195108 [GRCh38]
Chr17:48272469 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2775del (p.Gly926fs) deletion Osteogenesis imperfecta [RCV004782320]|Osteogenesis imperfecta type I [RCV000225140]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001808584]|not provided [RCV004591044] Chr17:50189431 [GRCh38]
Chr17:48266792 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) single nucleotide variant Cardiovascular phenotype [RCV002328757]|Ehlers-Danlos syndrome [RCV002278266]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000363294]|Infantile cortical hyperostosis [RCV000309975]|Osteogenesis imperfecta [RCV000403242]|Osteogenesis imperfecta type I [RCV000559926]|not provided [RCV001726085]|not specified [RCV000285632] Chr17:50185847 [GRCh38]
Chr17:48263208 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2089C>T (p.Arg697Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000358677]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490669]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763409]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796153]|not provided [RCV000497565] Chr17:50191826 [GRCh38]
Chr17:48269187 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.878G>A (p.Gly293Asp) single nucleotide variant not provided [RCV000757097] Chr17:50196509 [GRCh38]
Chr17:48273870 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1696G>A (p.Gly566Arg) single nucleotide variant not provided [RCV000757098] Chr17:50194014 [GRCh38]
Chr17:48271375 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1102G>C (p.Gly368Arg) single nucleotide variant not provided [RCV000757099] Chr17:50195620 [GRCh38]
Chr17:48272981 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4058C>A (p.Thr1353Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV002536564]|not provided [RCV000757101] Chr17:50185968 [GRCh38]
Chr17:48263329 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1724G>A (p.Gly575Asp) single nucleotide variant not provided [RCV000757102] Chr17:50193986 [GRCh38]
Chr17:48271347 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3046G>A (p.Gly1016Arg) single nucleotide variant not provided [RCV000519594] Chr17:50188795 [GRCh38]
Chr17:48266156 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1815C>T (p.Gly605=) single nucleotide variant Cardiovascular phenotype [RCV002413770]|Osteogenesis imperfecta type I [RCV001464392]|not provided [RCV001698473] Chr17:50193000 [GRCh38]
Chr17:48270361 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) single nucleotide variant COL1A1-related disorder [RCV004547731]|Cardiovascular phenotype [RCV002431790]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125580]|Infantile cortical hyperostosis [RCV001125579]|Osteogenesis imperfecta [RCV001125581]|Osteogenesis imperfecta type I [RCV000877735]|not provided [RCV001697902] Chr17:50191451 [GRCh38]
Chr17:48268812 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.361G>T (p.Gly121Cys) single nucleotide variant Connective tissue disorder [RCV000659347] Chr17:50199426 [GRCh38]
Chr17:48276787 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) single nucleotide variant Connective tissue disorder [RCV000659360]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001123293]|Infantile cortical hyperostosis [RCV001123294]|Osteogenesis imperfecta [RCV001124397]|Osteogenesis imperfecta type I [RCV000689162]|not provided [RCV001549827] Chr17:50186874 [GRCh38]
Chr17:48264235 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3531+14C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002531502]|not specified [RCV000603500] Chr17:50187001 [GRCh38]
Chr17:48264362 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4178C>T (p.Ser1393Phe) single nucleotide variant Osteogenesis imperfecta type I [RCV000547370] Chr17:50185848 [GRCh38]
Chr17:48263209 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3360del (p.Gly1121fs) deletion Osteogenesis imperfecta type I [RCV001065243]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003326449]|not provided [RCV000518462] Chr17:50187885 [GRCh38]
Chr17:48265246 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4245C>A (p.Cys1415Ter) single nucleotide variant not provided [RCV000519918] Chr17:50185781 [GRCh38]
Chr17:48263142 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.751-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000631493]|not provided [RCV000519996] Chr17:50197064 [GRCh38]
Chr17:48274425 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1387G>A (p.Ala463Thr) single nucleotide variant Connective tissue disorder [RCV000659350]|Osteogenesis imperfecta type I [RCV001855387] Chr17:50194795 [GRCh38]
Chr17:48272156 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2422C>A (p.Pro808Thr) single nucleotide variant Cardiovascular phenotype [RCV004993916]|Connective tissue disorder [RCV000659355]|Osteogenesis imperfecta type I [RCV002534317] Chr17:50190356 [GRCh38]
Chr17:48267717 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3778C>T (p.Arg1260Cys) single nucleotide variant Cardiovascular phenotype [RCV004609479]|Connective tissue disorder [RCV000659361] Chr17:50186676 [GRCh38]
Chr17:48264037 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2830-11G>A single nucleotide variant not specified [RCV000606192] Chr17:50189286 [GRCh38]
Chr17:48266647 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.589-20T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002065326]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002506468]|not specified [RCV000600798] Chr17:50198022 [GRCh38]
Chr17:48275383 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2049_2050del (p.Glu684fs) deletion not provided [RCV000519317] Chr17:50191865..50191866 [GRCh38]
Chr17:48269226..48269227 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3207+1G>C single nucleotide variant COL1A1-related disorder [RCV004553177]|Osteogenesis imperfecta type I [RCV000528176] Chr17:50188529 [GRCh38]
Chr17:48265890 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3495del (p.Gly1166fs) deletion Osteogenesis imperfecta type I [RCV000560922]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002506380]|not provided [RCV000627431] Chr17:50187051 [GRCh38]
Chr17:48264412 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.299-20C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001589212]|Osteogenesis imperfecta type I [RCV001589211]|Osteogenesis imperfecta type III [RCV001589208]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001589209]|Osteogenesis imperfecta, perinatal lethal [RCV001589210]|not provided [RCV004709418]|not specified [RCV000241970] Chr17:50199610 [GRCh38]
Chr17:48276971 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1678G>A (p.Gly560Ser) single nucleotide variant COL1A1-related disorder [RCV004725133]|Ehlers-Danlos syndrome [RCV002278251]|Osteogenesis imperfecta [RCV000722158]|Osteogenesis imperfecta type I [RCV000293333]|not provided [RCV000255844] Chr17:50194032 [GRCh38]
Chr17:48271393 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) single nucleotide variant Cardiovascular phenotype [RCV002446484]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000383040]|Infantile cortical hyperostosis [RCV000265335]|Osteogenesis imperfecta [RCV000328440]|Osteogenesis imperfecta type I [RCV001520820]|Osteogenesis imperfecta type III [RCV001589205]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001589206]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002500851]|Osteogenesis imperfecta, perinatal lethal [RCV001589207]|not provided [RCV004710619]|not specified [RCV000247058] Chr17:50190862 [GRCh38]
Chr17:48268223 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1930-14T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000312776]|Infantile cortical hyperostosis [RCV000392909]|Osteogenesis imperfecta [RCV000338506]|Osteogenesis imperfecta type I [RCV002055020]|not provided [RCV004709417]|not specified [RCV000242270] Chr17:50192542 [GRCh38]
Chr17:48269903 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) single nucleotide variant Cardiovascular phenotype [RCV002411109]|Ehlers-Danlos syndrome [RCV002277598]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000348354]|Infantile cortical hyperostosis [RCV000313391]|Osteogenesis imperfecta [RCV000373825]|Osteogenesis imperfecta type I [RCV000525674]|not provided [RCV000710759]|not specified [RCV000249696] Chr17:50199874 [GRCh38]
Chr17:48277235 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2773C>T (p.Pro925Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000530582] Chr17:50189433 [GRCh38]
Chr17:48266794 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.859-14T>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000291081]|Infantile cortical hyperostosis [RCV000339030]|Osteogenesis imperfecta [RCV000399252]|Osteogenesis imperfecta type I [RCV002055021]|not provided [RCV004709420]|not specified [RCV000242449] Chr17:50196542 [GRCh38]
Chr17:48273903 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.642+18A>C single nucleotide variant Osteogenesis imperfecta type I [RCV002057298]|not provided [RCV004709419]|not specified [RCV000252286] Chr17:50197931 [GRCh38]
Chr17:48275292 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2560-18C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002057297]|not provided [RCV004710620]|not specified [RCV000250190] Chr17:50189930 [GRCh38]
Chr17:48267291 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000525857]|not specified [RCV003230531] Chr17:50201479 [GRCh38]
Chr17:48278840 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.*378C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000374673]|Infantile cortical hyperostosis [RCV000316593]|Osteogenesis imperfecta [RCV000282462]|not provided [RCV002510861] Chr17:50185124 [GRCh38]
Chr17:48262485 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2743C>T (p.Pro915Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002278493]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000343018]|Infantile cortical hyperostosis [RCV000392300]|Osteogenesis imperfecta [RCV000283301]|Osteogenesis imperfecta type I [RCV001345234]|not provided [RCV001533845] Chr17:50189463 [GRCh38]
Chr17:48266824 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1026TG[1] microsatellite Ehlers-Danlos syndrome type 7A [RCV000300184]|Infantile cortical hyperostosis [RCV000266120]|Osteogenesis Imperfecta, Dominant [RCV000357262] Chr17:50184473..50184474 [GRCh38]
Chr17:48261834..48261835 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.298+7C>A single nucleotide variant Ehlers-Danlos syndrome [RCV002278498]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000376577]|Infantile cortical hyperostosis [RCV000284220]|Osteogenesis imperfecta [RCV000328886]|Osteogenesis imperfecta type I [RCV001086275]|not provided [RCV000710768]|not specified [RCV000607714] Chr17:50199746 [GRCh38]
Chr17:48277107 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.-23G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000392860]|Infantile cortical hyperostosis [RCV000302289]|Osteogenesis imperfecta [RCV000365246] Chr17:50201536 [GRCh38]
Chr17:48278897 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1175T>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000320240]|Infantile cortical hyperostosis [RCV000267744]|Osteogenesis imperfecta [RCV000360077]|not provided [RCV004709706] Chr17:50184327 [GRCh38]
Chr17:48261688 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3424-6C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000404536]|Infantile cortical hyperostosis [RCV000304006]|Osteogenesis imperfecta [RCV000354143]|Osteogenesis imperfecta type I [RCV000543436]|not provided [RCV001718678] Chr17:50187128 [GRCh38]
Chr17:48264489 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*744C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000327650]|Infantile cortical hyperostosis [RCV000366014]|Osteogenesis imperfecta [RCV000269069]|not provided [RCV001613042] Chr17:50184758 [GRCh38]
Chr17:48262119 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3630C>T (p.His1210=) single nucleotide variant Cardiovascular phenotype [RCV003168478]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000407725]|Infantile cortical hyperostosis [RCV000287980]|Osteogenesis imperfecta [RCV000347596]|Osteogenesis imperfecta type I [RCV002522988] Chr17:50186824 [GRCh38]
Chr17:48264185 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.957+15C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000288521]|Infantile cortical hyperostosis [RCV000383114]|Osteogenesis imperfecta [RCV000326132] Chr17:50196299 [GRCh38]
Chr17:48273660 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3099+7T>C single nucleotide variant Connective tissue disorder [RCV000659356]|Ehlers-Danlos syndrome [RCV002278492]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000346597]|Infantile cortical hyperostosis [RCV000291739]|Osteogenesis imperfecta [RCV000399463]|Osteogenesis imperfecta type I [RCV001087478]|not provided [RCV000527323]|not specified [RCV000444155] Chr17:50188735 [GRCh38]
Chr17:48266096 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1002+10G>T single nucleotide variant Ehlers-Danlos syndrome [RCV002278496]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000389869]|Infantile cortical hyperostosis [RCV000333042]|Osteogenesis imperfecta [RCV000275662]|Osteogenesis imperfecta type I [RCV001080239]|not provided [RCV000841032]|not specified [RCV000730396] Chr17:50196145 [GRCh38]
Chr17:48273506 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.528C>T (p.Ser176=) single nucleotide variant Cardiovascular phenotype [RCV002348068]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000276290]|Infantile cortical hyperostosis [RCV000368586]|Osteogenesis imperfecta [RCV000311677]|Osteogenesis imperfecta type I [RCV000542211]|not provided [RCV001555722] Chr17:50198448 [GRCh38]
Chr17:48275809 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1027del deletion Ehlers-Danlos syndrome type 7A [RCV000329851]|Infantile cortical hyperostosis [RCV000277117]|Osteogenesis Imperfecta, Dominant [RCV000386455] Chr17:50184475 [GRCh38]
Chr17:48261836 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3099+7T>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000381638]|Infantile cortical hyperostosis [RCV000295387]|Osteogenesis imperfecta [RCV000326966]|not provided [RCV004694340] Chr17:50188735 [GRCh38]
Chr17:48266096 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000380061]|Infantile cortical hyperostosis [RCV000278484]|Osteogenesis imperfecta [RCV000323135]|Osteogenesis imperfecta type I [RCV002522989] Chr17:50199822 [GRCh38]
Chr17:48277183 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1233C>T (p.Phe411=) single nucleotide variant Cardiovascular phenotype [RCV002374553]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000297504]|Infantile cortical hyperostosis [RCV000355103]|Osteogenesis imperfecta [RCV000404386]|Osteogenesis imperfecta type I [RCV001411271]|not specified [RCV000609843] Chr17:50195298 [GRCh38]
Chr17:48272659 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*714C>T single nucleotide variant Ehlers-Danlos syndrome type 7A [RCV000377461]|Infantile cortical hyperostosis [RCV000280657]|Osteogenesis Imperfecta, Dominant [RCV000320464] Chr17:50184788 [GRCh38]
Chr17:48262149 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) single nucleotide variant Cardiovascular phenotype [RCV002365387]|Ehlers-Danlos syndrome [RCV002278497]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000298870]|Infantile cortical hyperostosis [RCV000355982]|Osteogenesis imperfecta [RCV000392198]|Osteogenesis imperfecta type I [RCV001079759]|not provided [RCV000726816] Chr17:50197964 [GRCh38]
Chr17:48275325 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2613+14G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000335408]|Infantile cortical hyperostosis [RCV000299059]|Osteogenesis imperfecta [RCV000406119]|Osteogenesis imperfecta type I [RCV002056612]|not provided [RCV001812857]|not specified [RCV000429895] Chr17:50189845 [GRCh38]
Chr17:48267206 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) single nucleotide variant COL1A1-related disorder [RCV004549711]|Cardiovascular phenotype [RCV002446584]|Ehlers-Danlos syndrome [RCV002278494]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000315437]|Infantile cortical hyperostosis [RCV000268773]|Osteogenesis imperfecta [RCV000363370]|Osteogenesis imperfecta type I [RCV001087908]|not provided [RCV000438177] Chr17:50190093 [GRCh38]
Chr17:48267454 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.*1205C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000326219]|Infantile cortical hyperostosis [RCV000365920]|Osteogenesis imperfecta [RCV000268856] Chr17:50184297 [GRCh38]
Chr17:48261658 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*202A>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000270815]|Infantile cortical hyperostosis [RCV000315320]|Osteogenesis imperfecta [RCV000369990]|not provided [RCV002510862] Chr17:50185300 [GRCh38]
Chr17:48262661 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2119G>A (p.Gly707Ser) single nucleotide variant not provided [RCV000274311] Chr17:50191796 [GRCh38]
Chr17:48269157 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2991del (p.Gly998fs) deletion not provided [RCV000277201] Chr17:50188957 [GRCh38]
Chr17:48266318 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*623G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000270434]|Infantile cortical hyperostosis [RCV000323726]|Osteogenesis imperfecta [RCV000363213] Chr17:50184879 [GRCh38]
Chr17:48262240 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1669-10C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000281660]|Infantile cortical hyperostosis [RCV000373765]|Osteogenesis imperfecta [RCV000348426] Chr17:50194051 [GRCh38]
Chr17:48271412 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.334-5C>A single nucleotide variant COL1A1-related disorder [RCV004549712]|Cardiovascular phenotype [RCV002323529]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000271447]|Infantile cortical hyperostosis [RCV000333833]|Osteogenesis imperfecta [RCV000362772]|Osteogenesis imperfecta type I [RCV001514913]|See cases [RCV002252095]|not provided [RCV000497393] Chr17:50199458 [GRCh38]
Chr17:48276819 [GRCh37]
Chr17:17q21.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1888G>A (p.Glu630Lys) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000363691]|Infantile cortical hyperostosis [RCV000271525]|Osteogenesis imperfecta [RCV000310291]|Osteogenesis imperfecta type I [RCV002521114] Chr17:50192681 [GRCh38]
Chr17:48270042 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3939C>A (p.Tyr1313Ter) single nucleotide variant not provided [RCV000282923] Chr17:50186383 [GRCh38]
Chr17:48263744 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3567del (p.Gly1190fs) deletion Osteogenesis imperfecta type I [RCV000289700]|not provided [RCV000344709] Chr17:50186887 [GRCh38]
Chr17:48264248 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000274658]|Infantile cortical hyperostosis [RCV000329876]|Osteogenesis imperfecta [RCV000389062]|Osteogenesis imperfecta type I [RCV001084727]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000765370]|not provided [RCV000828389] Chr17:50188568 [GRCh38]
Chr17:48265929 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000338677]|Infantile cortical hyperostosis [RCV000313055]|Osteogenesis imperfecta [RCV000407503]|Osteogenesis imperfecta type I [RCV000798385]|not provided [RCV001590959] Chr17:50185525 [GRCh38]
Chr17:48262886 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*242_*244dup duplication COL1A1-related disorder [RCV004549710]|Ehlers-Danlos syndrome type 7A [RCV000284301]|Infantile cortical hyperostosis [RCV000391151]|Osteogenesis Imperfecta, Dominant [RCV000339102] Chr17:50185257..50185258 [GRCh38]
Chr17:48262618..48262619 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*243_*244dup duplication COL1A1-related disorder [RCV004549709]|Ehlers-Danlos syndrome type 7A [RCV000383398]|Infantile cortical hyperostosis [RCV000287776]|Osteogenesis Imperfecta, Dominant [RCV000303947] Chr17:50185257..50185258 [GRCh38]
Chr17:48262618..48262619 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) single nucleotide variant Cardiovascular phenotype [RCV002401987]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127853]|Infantile cortical hyperostosis [RCV001127852]|Osteogenesis imperfecta [RCV001127854]|Osteogenesis imperfecta type I [RCV000864424]|not provided [RCV001711856]|not specified [RCV000307161] Chr17:50195282 [GRCh38]
Chr17:48272643 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001589319]|Osteogenesis imperfecta type I [RCV001520819]|Osteogenesis imperfecta type III [RCV001589316]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001589317]|Osteogenesis imperfecta, perinatal lethal [RCV001589318]|not provided [RCV003736686]|not specified [RCV000341625] Chr17:50188134 [GRCh38]
Chr17:48265495 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) single nucleotide variant COL1A1-related disorder [RCV004547656]|Cardiovascular phenotype [RCV002411144]|Ehlers-Danlos syndrome [RCV002278262]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001124862]|Infantile cortical hyperostosis [RCV001124863]|Osteogenesis imperfecta [RCV001124861]|Osteogenesis imperfecta type I [RCV000631511]|not provided [RCV001711850]|not specified [RCV000377775] Chr17:50195974 [GRCh38]
Chr17:48273335 [GRCh37]
Chr17:17q21.33		 pathogenic|benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*194G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000271671]|Infantile cortical hyperostosis [RCV000325909]|Osteogenesis imperfecta [RCV000385157] Chr17:50185308 [GRCh38]
Chr17:48262669 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1265C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000334896]|Infantile cortical hyperostosis [RCV000406670]|Osteogenesis imperfecta [RCV000314849] Chr17:50184237 [GRCh38]
Chr17:48261598 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4110C>A (p.Cys1370Ter) single nucleotide variant not provided [RCV000301683] Chr17:50185916 [GRCh38]
Chr17:48263277 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.-78_-77delinsAA indel Ehlers-Danlos syndrome type 7A [RCV000318980]|Infantile cortical hyperostosis [RCV000372130]|Osteogenesis Imperfecta, Dominant [RCV000261091] Chr17:50201590..50201591 [GRCh38]
Chr17:48278951..48278952 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1384_*1387del deletion Ehlers-Danlos syndrome type 7A [RCV000322906]|Infantile cortical hyperostosis [RCV000283165]|Osteogenesis Imperfecta, Dominant [RCV000377712] Chr17:50184115..50184118 [GRCh38]
Chr17:48261476..48261479 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*682C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000279419]|Infantile cortical hyperostosis [RCV000337995]|Osteogenesis imperfecta [RCV000407319] Chr17:50184820 [GRCh38]
Chr17:48262181 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*21G>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000373598]|Infantile cortical hyperostosis [RCV000342367]|Osteogenesis imperfecta [RCV000279151] Chr17:50185481 [GRCh38]
Chr17:48262842 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) single nucleotide variant COL1A1-related disorder [RCV004549603]|Cardiovascular phenotype [RCV002379141]|Ehlers-Danlos syndrome [RCV002278310]|Osteogenesis imperfecta type I [RCV000686753]|not provided [RCV000346609]|not specified [RCV004782344] Chr17:50197190 [GRCh38]
Chr17:48274551 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) single nucleotide variant Cardiovascular phenotype [RCV002411173]|Ehlers-Danlos syndrome [RCV002278318]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125669]|Infantile cortical hyperostosis [RCV001124660]|Osteogenesis imperfecta [RCV001125668]|Osteogenesis imperfecta type I [RCV001084005]|not provided [RCV000710760]|not specified [RCV000381981] Chr17:50193012 [GRCh38]
Chr17:48270373 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.*251dup duplication Ehlers-Danlos syndrome type 7A [RCV000300833]|Infantile cortical hyperostosis [RCV000261974]|Osteogenesis Imperfecta, Dominant [RCV000353389] Chr17:50185250..50185251 [GRCh38]
Chr17:48262611..48262612 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*245_*246dup duplication Ehlers-Danlos syndrome type 7A [RCV000262203]|Infantile cortical hyperostosis [RCV000385847]|Osteogenesis Imperfecta, Dominant [RCV000331356] Chr17:50185255..50185256 [GRCh38]
Chr17:48262616..48262617 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1983+9G>T single nucleotide variant COL1A1-related disorder [RCV004737439]|Ehlers-Danlos syndrome [RCV002278495]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000335731]|Infantile cortical hyperostosis [RCV000281146]|Osteogenesis imperfecta [RCV000371756]|Osteogenesis imperfecta type I [RCV001514909]|not specified [RCV000609620] Chr17:50192466 [GRCh38]
Chr17:48269827 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2288G>A (p.Arg763His) single nucleotide variant Cardiovascular phenotype [RCV004992154]|Osteogenesis imperfecta type I [RCV001051624]|See cases [RCV004584379]|not provided [RCV000725475] Chr17:50190872 [GRCh38]
Chr17:48268233 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2535A>C (p.Gly845=) single nucleotide variant not provided [RCV000280123] Chr17:50190025 [GRCh38]
Chr17:48267386 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2614-8C>T single nucleotide variant not provided [RCV000312721] Chr17:50189740 [GRCh38]
Chr17:48267101 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*215del deletion Ehlers-Danlos syndrome type 7A [RCV000355349]|Infantile cortical hyperostosis [RCV000274721]|Osteogenesis Imperfecta, Dominant [RCV000300624] Chr17:50185287 [GRCh38]
Chr17:48262648 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000392202]|Infantile cortical hyperostosis [RCV000285300]|Osteogenesis imperfecta [RCV000342628]|Osteogenesis imperfecta type I [RCV002521115]|not provided [RCV000710774] Chr17:50197779 [GRCh38]
Chr17:48275140 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) single nucleotide variant COL1A1-related disorder [RCV004547659]|Osteogenesis imperfecta [RCV003479089]|not provided [RCV000400501] Chr17:50190344 [GRCh38]
Chr17:48267705 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3415G>A (p.Gly1139Ser) single nucleotide variant not provided [RCV000345104] Chr17:50187492 [GRCh38]
Chr17:48264853 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*795C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000367248]|Infantile cortical hyperostosis [RCV000314969]|Osteogenesis imperfecta [RCV000274989] Chr17:50184707 [GRCh38]
Chr17:48262068 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1233G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000367159]|Infantile cortical hyperostosis [RCV000403026]|Osteogenesis imperfecta [RCV000308870]|not provided [RCV001778913] Chr17:50184269 [GRCh38]
Chr17:48261630 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.*88T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000322041]|Infantile cortical hyperostosis [RCV000376642]|Osteogenesis imperfecta [RCV000287367]|not provided [RCV001712047] Chr17:50185414 [GRCh38]
Chr17:48262775 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3127G>A (p.Gly1043Arg) single nucleotide variant not provided [RCV000352723] Chr17:50188610 [GRCh38]
Chr17:48265971 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) single nucleotide variant Cardiovascular phenotype [RCV002348009]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127366]|Infantile cortical hyperostosis [RCV001127367]|Osteogenesis imperfecta [RCV001127365]|Osteogenesis imperfecta type I [RCV001296479]|not provided [RCV000319514] Chr17:50186721 [GRCh38]
Chr17:48264082 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*437A>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000264985]|Infantile cortical hyperostosis [RCV000322462]|Osteogenesis imperfecta [RCV000362058] Chr17:50185065 [GRCh38]
Chr17:48262426 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*815A>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000276244]|Infantile cortical hyperostosis [RCV000353441]|Osteogenesis imperfecta [RCV000300899] Chr17:50184687 [GRCh38]
Chr17:48262048 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*631G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000404828]|Infantile cortical hyperostosis [RCV000368877]|Osteogenesis imperfecta [RCV000310789] Chr17:50184871 [GRCh38]
Chr17:48262232 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.643-2A>G single nucleotide variant not provided [RCV000362497] Chr17:50197787 [GRCh38]
Chr17:48275148 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2143C>T (p.Pro715Ser) single nucleotide variant not provided [RCV000288183] Chr17:50191475 [GRCh38]
Chr17:48268836 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4140G>C (p.Gln1380His) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000364673]|Infantile cortical hyperostosis [RCV000265415]|Osteogenesis imperfecta [RCV000320492] Chr17:50185886 [GRCh38]
Chr17:48263247 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*681_*682insAGCA insertion Ehlers-Danlos syndrome type 7A [RCV000403912]|Infantile cortical hyperostosis [RCV000351512]|Osteogenesis Imperfecta, Dominant [RCV000311883]|not provided [RCV001643011] Chr17:50184820..50184821 [GRCh38]
Chr17:48262181..48262182 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3815-12G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000387080]|Infantile cortical hyperostosis [RCV000351084]|Osteogenesis imperfecta [RCV000292780]|Osteogenesis imperfecta type I [RCV002056611]|not provided [RCV000827217]|not specified [RCV004782357] Chr17:50186519 [GRCh38]
Chr17:48263880 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.-98G>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000293078]|Infantile cortical hyperostosis [RCV000350308]|Osteogenesis imperfecta [RCV000375937] Chr17:50201611 [GRCh38]
Chr17:48278972 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*245del deletion Ehlers-Danlos syndrome type 7A [RCV000277432]|Infantile cortical hyperostosis [RCV000332383]|Osteogenesis Imperfecta, Dominant [RCV000382315] Chr17:50185257 [GRCh38]
Chr17:48262618 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) single nucleotide variant COL1A1-related disorder [RCV004737438]|Cardiovascular phenotype [RCV002323528]|Ehlers-Danlos syndrome [RCV002278491]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000319126]|Infantile cortical hyperostosis [RCV000355446]|Osteogenesis imperfecta [RCV000259210]|Osteogenesis imperfecta type I [RCV000695671]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000765369]|not provided [RCV000521091] Chr17:50188124 [GRCh38]
Chr17:48265485 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1026_*1028del deletion Ehlers-Danlos syndrome type 7A [RCV000387770]|Infantile cortical hyperostosis [RCV000316990]|Osteogenesis Imperfecta, Dominant [RCV000260173]|not provided [RCV001785566] Chr17:50184474..50184476 [GRCh38]
Chr17:48261835..48261837 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1087C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000373571]|Infantile cortical hyperostosis [RCV000352577]|Osteogenesis imperfecta [RCV000295489] Chr17:50184415 [GRCh38]
Chr17:48261776 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.277C>A (p.Pro93Thr) single nucleotide variant not provided [RCV000293998] Chr17:50199774 [GRCh38]
Chr17:48277135 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4092G>A (p.Gln1364=) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000361292]|Infantile cortical hyperostosis [RCV000317173]|Osteogenesis imperfecta [RCV000266645] Chr17:50185934 [GRCh38]
Chr17:48263295 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.197_199delinsTGTTGCC (p.Gly66fs) indel not provided [RCV000392060] Chr17:50199852..50199854 [GRCh38]
Chr17:48277213..48277215 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2588G>C (p.Gly863Ala) single nucleotide variant not provided [RCV000595932] Chr17:50189884 [GRCh38]
Chr17:48267245 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.*1165C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000377245]|Infantile cortical hyperostosis [RCV000261749]|Osteogenesis imperfecta [RCV000319203]|not provided [RCV001848666] Chr17:50184337 [GRCh38]
Chr17:48261698 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1767+3_1767+6del deletion Osteogenesis imperfecta type I [RCV002521875]|not provided [RCV000365888] Chr17:50193937..50193940 [GRCh38]
Chr17:48271298..48271301 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1324A>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000279790]|Infantile cortical hyperostosis [RCV000338331]|Osteogenesis imperfecta [RCV000393142] Chr17:50184178 [GRCh38]
Chr17:48261539 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*981G>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000402935]|Infantile cortical hyperostosis [RCV000340545]|Osteogenesis imperfecta [RCV000301902]|not provided [RCV003409509] Chr17:50184521 [GRCh38]
Chr17:48261882 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) single nucleotide variant Cardiovascular phenotype [RCV002338913]|Ehlers-Danlos syndrome, arthrochalasia type [RCV000408037]|Infantile cortical hyperostosis [RCV000357865]|Osteogenesis imperfecta [RCV000303053]|Osteogenesis imperfecta type I [RCV000560392]|not provided [RCV000710771]|not specified [RCV000437547] Chr17:50187087 [GRCh38]
Chr17:48264448 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.-66G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000324341]|Infantile cortical hyperostosis [RCV000359412]|Osteogenesis imperfecta [RCV000266944] Chr17:50201579 [GRCh38]
Chr17:48278940 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2930G>T (p.Gly977Val) single nucleotide variant not provided [RCV000316912] Chr17:50189175 [GRCh38]
Chr17:48266536 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.896del (p.Gly299fs) deletion not provided [RCV000260005] Chr17:50196491 [GRCh38]
Chr17:48273852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1875+5G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002519062]|not provided [RCV000263616] Chr17:50192792 [GRCh38]
Chr17:48270153 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) single nucleotide variant COL1A1-related disorder [RCV004551617]|Cardiovascular phenotype [RCV002455947]|Osteogenesis imperfecta type I [RCV000526752]|not provided [RCV001712452]|not specified [RCV003488631] Chr17:50186774 [GRCh38]
Chr17:48264135 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3207+8G>T single nucleotide variant COL1A1-related disorder [RCV004737859]|Osteogenesis imperfecta type I [RCV002531008]|not provided [RCV000598221] Chr17:50188522 [GRCh38]
Chr17:48265883 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1108C>T (p.Arg370Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003631237]|not provided [RCV002281288] Chr17:50195614 [GRCh38]
Chr17:48272975 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.11:g.50198185_50198186delinsT indel Osteogenesis imperfecta type I [RCV000554808]|not provided [RCV001508820] Chr17:50198185..50198186 [GRCh38]
Chr17:48275546..48275547 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3963G>C (p.Lys1321Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001060559]|not provided [RCV000487667] Chr17:50186359 [GRCh38]
Chr17:48263720 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.11:g.50201674G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001517449]|not provided [RCV000834549]|not specified [RCV000731333] Chr17:50201674 [GRCh38]
Chr17:48279035 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1126C>T (p.Pro376Ser) single nucleotide variant not provided [RCV003314860] Chr17:50195596 [GRCh38]
Chr17:48272957 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3061G>T (p.Glu1021Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001215501]|not provided [RCV000598016] Chr17:50188780 [GRCh38]
Chr17:48266141 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2858G>T (p.Gly953Val) single nucleotide variant Osteogenesis imperfecta type III [RCV003315186] Chr17:50189247 [GRCh38]
Chr17:48266608 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.696+6T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003517229]|not provided [RCV003159976] Chr17:50197726 [GRCh38]
Chr17:48275087 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.734G>A (p.Gly245Glu) single nucleotide variant not provided [RCV003314906] Chr17:50197196 [GRCh38]
Chr17:48274557 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.768C>T (p.Pro256=) single nucleotide variant Cardiovascular phenotype [RCV002404277]|Osteogenesis imperfecta [RCV002279251]|Osteogenesis imperfecta type I [RCV002056811]|not provided [RCV000488066] Chr17:50197046 [GRCh38]
Chr17:48274407 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) single nucleotide variant Osteogenesis imperfecta type I [RCV002532391]|not provided [RCV000595947] Chr17:50186416 [GRCh38]
Chr17:48263777 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.642+4A>G single nucleotide variant not provided [RCV002292956] Chr17:50197945 [GRCh38]
Chr17:48275306 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1076G>A (p.Gly359Glu) single nucleotide variant not provided [RCV000490181] Chr17:50195646 [GRCh38]
Chr17:48273007 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*1045del deletion Ehlers-Danlos syndrome type 7A [RCV000346915]|Infantile cortical hyperostosis [RCV000386194]|Osteogenesis Imperfecta, Dominant [RCV000294358] Chr17:50184457 [GRCh38]
Chr17:48261818 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1029_*1031del deletion Ehlers-Danlos syndrome type 7A [RCV000306139]|Infantile cortical hyperostosis [RCV000358539]|Osteogenesis Imperfecta, Dominant [RCV000404652] Chr17:50184471..50184473 [GRCh38]
Chr17:48261832..48261834 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1910C>G (p.Ala637Gly) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000392908]|Infantile cortical hyperostosis [RCV000306713]|Osteogenesis imperfecta [RCV000351149]|Osteogenesis imperfecta type I [RCV001850732] Chr17:50192659 [GRCh38]
Chr17:48270020 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*259_*260insAT insertion Ehlers-Danlos syndrome type 7A [RCV000348420]|Infantile cortical hyperostosis [RCV000373538]|Osteogenesis Imperfecta, Dominant [RCV000295801] Chr17:50185242..50185243 [GRCh38]
Chr17:48262603..48262604 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1030_*1031del deletion Ehlers-Danlos syndrome type 7A [RCV000405029]|Infantile cortical hyperostosis [RCV000307382]|Osteogenesis Imperfecta, Dominant [RCV000345315] Chr17:50184471..50184472 [GRCh38]
Chr17:48261832..48261833 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*257_*258dup duplication Ehlers-Danlos syndrome type 7A [RCV000360001]|Infantile cortical hyperostosis [RCV000407631]|Osteogenesis Imperfecta, Dominant [RCV000307578] Chr17:50185243..50185244 [GRCh38]
Chr17:48262604..48262605 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2217del (p.Pro741fs) deletion Osteogenesis imperfecta type I [RCV000551842] Chr17:50191401 [GRCh38]
Chr17:48268762 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.-115G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000344618]|Infantile cortical hyperostosis [RCV000388764]|Osteogenesis imperfecta [RCV000296810] Chr17:50201628 [GRCh38]
Chr17:48278989 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*733G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000378551]|Infantile cortical hyperostosis [RCV000286456]|Osteogenesis imperfecta [RCV000326421] Chr17:50184769 [GRCh38]
Chr17:48262130 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2560-18C>T single nucleotide variant not specified [RCV000605092] Chr17:50189930 [GRCh38]
Chr17:48267291 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*998_*999del deletion Ehlers-Danlos syndrome type 7A [RCV000341666]|Infantile cortical hyperostosis [RCV000288962]|Osteogenesis Imperfecta, Dominant [RCV000391625] Chr17:50184503..50184504 [GRCh38]
Chr17:48261864..48261865 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.333+3A>C single nucleotide variant Osteogenesis imperfecta type I [RCV000553996] Chr17:50199553 [GRCh38]
Chr17:48276914 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1930-5T>C single nucleotide variant Cardiovascular phenotype [RCV002413728]|Osteogenesis imperfecta type I [RCV001467964]|not provided [RCV001712640] Chr17:50192533 [GRCh38]
Chr17:48269894 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*258dup duplication Ehlers-Danlos syndrome type 7A [RCV000407647]|Infantile cortical hyperostosis [RCV000289782]|Osteogenesis Imperfecta, Dominant [RCV000347333] Chr17:50185243..50185244 [GRCh38]
Chr17:48262604..48262605 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1007_*1008del deletion Ehlers-Danlos syndrome type 7A [RCV000380827]|Infantile cortical hyperostosis [RCV000347263]|Osteogenesis Imperfecta, Dominant [RCV000290002] Chr17:50184494..50184495 [GRCh38]
Chr17:48261855..48261856 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4182C>T (p.Asn1394=) single nucleotide variant Osteogenesis imperfecta type I [RCV003517244]|not specified [RCV000606103] Chr17:50185844 [GRCh38]
Chr17:48263205 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*255dup duplication Ehlers-Danlos syndrome type 7A [RCV000404612]|Infantile cortical hyperostosis [RCV000359076]|Osteogenesis Imperfecta, Dominant [RCV000301824] Chr17:50185246..50185247 [GRCh38]
Chr17:48262607..48262608 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4080C>T (p.Thr1360=) single nucleotide variant COL1A1-related disorder [RCV004553360]|Osteogenesis imperfecta type I [RCV001855218]|not specified [RCV000605845] Chr17:50185946 [GRCh38]
Chr17:48263307 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1768-18A>C single nucleotide variant not specified [RCV000606105] Chr17:50193065 [GRCh38]
Chr17:48270426 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*20G>C single nucleotide variant not specified [RCV000579244] Chr17:50185482 [GRCh38]
Chr17:48262843 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.671G>T (p.Gly224Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000532521]|not provided [RCV000522435] Chr17:50197757 [GRCh38]
Chr17:48275118 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) single nucleotide variant Cardiovascular phenotype [RCV003160025]|Osteogenesis imperfecta type I [RCV001081361]|not provided [RCV000710767] Chr17:50189267 [GRCh38]
Chr17:48266628 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs) microsatellite Osteogenesis imperfecta [RCV000589143] Chr17:50189203..50189204 [GRCh38]
Chr17:48266564..48266565 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2138G>A (p.Gly713Asp) single nucleotide variant not provided [RCV000520549] Chr17:50191480 [GRCh38]
Chr17:48268841 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3099+2T>A single nucleotide variant Blue sclerae [RCV000584802]|Osteogenesis imperfecta type I [RCV004767422] Chr17:50188740 [GRCh38]
Chr17:48266101 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3207+1G>A single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV003313966]|Osteogenesis imperfecta type I [RCV000631486]|not provided [RCV000578505] Chr17:50188529 [GRCh38]
Chr17:48265890 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.148C>T (p.Arg50Ter) single nucleotide variant not provided [RCV000598877] Chr17:50199903 [GRCh38]
Chr17:48277264 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3099+1G>A single nucleotide variant Osteogenesis imperfecta [RCV001260291]|Osteogenesis imperfecta type I [RCV001860228]|not provided [RCV000598951] Chr17:50188741 [GRCh38]
Chr17:48266102 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2073del (p.Gly692fs) deletion COL1A1-related disorder [RCV004722966]|Osteogenesis imperfecta type I [RCV000631474]|not provided [RCV000599013] Chr17:50191842 [GRCh38]
Chr17:48269203 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3647A>G (p.Tyr1216Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000550757]|not provided [RCV001547583] Chr17:50186807 [GRCh38]
Chr17:48264168 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) single nucleotide variant Cardiovascular phenotype [RCV003302912]|Osteogenesis imperfecta type I [RCV001439435]|not provided [RCV000597852] Chr17:50198460 [GRCh38]
Chr17:48275821 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.3100-6C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001084380]|not provided [RCV000598119] Chr17:50188643 [GRCh38]
Chr17:48266004 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) single nucleotide variant COL1A1-related disorder [RCV004553320]|Cardiovascular phenotype [RCV002438537]|Osteogenesis imperfecta type I [RCV001854047]|not provided [RCV000598433] Chr17:50189491 [GRCh38]
Chr17:48266852 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2484_2510dup (p.Glu828_Gly836dup) duplication not provided [RCV000599586] Chr17:50190049..50190050 [GRCh38]
Chr17:48267410..48267411 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.299-9G>T single nucleotide variant Ehlers-Danlos syndrome [RCV002279374]|Osteogenesis imperfecta type I [RCV001444817]|not provided [RCV000593836] Chr17:50199599 [GRCh38]
Chr17:48276960 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.544-4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002529682]|not specified [RCV000604762] Chr17:50198209 [GRCh38]
Chr17:48275570 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1414C>T (p.Arg472Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000803118]|Osteogenesis imperfecta, perinatal lethal [RCV004767322]|not provided [RCV000523564] Chr17:50194768 [GRCh38]
Chr17:48272129 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3065G>C (p.Gly1022Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001062270]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796245]|not provided [RCV000597715] Chr17:50188776 [GRCh38]
Chr17:48266137 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2010del (p.Gly671fs) deletion COL1A1-related disorder [RCV004737854]|Osteogenesis imperfecta type I [RCV000591312]|Osteogenesis imperfecta, perinatal lethal [RCV001251156]|not provided [RCV000726619] Chr17:50191998 [GRCh38]
Chr17:48269359 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1887C>T (p.Gly629=) single nucleotide variant Cardiovascular phenotype [RCV002413768]|Osteogenesis imperfecta [RCV002279442]|Osteogenesis imperfecta type I [RCV002066833]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002498987]|not specified [RCV000603235] Chr17:50192682 [GRCh38]
Chr17:48270043 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1003-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001860110]|not provided [RCV000585423] Chr17:50195977 [GRCh38]
Chr17:48273338 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1618del (p.Gly539_Leu540insTer) deletion not provided [RCV000627400] Chr17:50194180 [GRCh38]
Chr17:48271541 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+9G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517235]|not provided [RCV000591564] Chr17:50187867 [GRCh38]
Chr17:48265228 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.3(COL1A1):c.1301delG (p.Gly434Valfs) deletion not provided [RCV000592043] Chr17:50195099 [GRCh38]
Chr17:48272460 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2164G>A (p.Gly722Ser) single nucleotide variant Osteogenesis imperfecta [RCV000722160] Chr17:50191454 [GRCh38]
Chr17:48268815 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3565C>A (p.Pro1189Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002523946]|not specified [RCV000414236] Chr17:50186889 [GRCh38]
Chr17:48264250 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3208G>A (p.Gly1070Ser) single nucleotide variant not provided [RCV000414748] Chr17:50188149 [GRCh38]
Chr17:48265510 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48272388)_(48277328_?)del deletion Osteogenesis imperfecta type I [RCV000556502] Chr17:48272388..48277328 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3944G>T (p.Ser1315Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001862142]|not provided [RCV000728334] Chr17:50186378 [GRCh38]
Chr17:48263739 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) single nucleotide variant Cardiovascular phenotype [RCV002442555]|Ehlers-Danlos syndrome [RCV002279504]|Osteogenesis imperfecta type I [RCV001078689]|not provided [RCV000731118] Chr17:50190877 [GRCh38]
Chr17:48268238 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2032G>A (p.Glu678Lys) single nucleotide variant Ehlers-Danlos syndrome [RCV002279327]|Osteogenesis imperfecta type I [RCV000533017]|not provided [RCV002289720] Chr17:50191883 [GRCh38]
Chr17:48269244 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000088.4(COL1A1):c.1452del (p.Gly485fs) deletion Osteogenesis imperfecta type I [RCV001868989]|not provided [RCV000733766] Chr17:50194730 [GRCh38]
Chr17:48272091 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.804+1G>C single nucleotide variant Blue sclerae [RCV000415384]|Osteogenesis imperfecta type I [RCV003517190]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198517] Chr17:50197009 [GRCh38]
Chr17:48274370 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1121del (p.Gly374fs) deletion Osteogenesis imperfecta type I [RCV000526231] Chr17:50195601 [GRCh38]
Chr17:48272962 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3283_3284dup (p.Asp1095fs) duplication Osteogenesis imperfecta type I [RCV000529089] Chr17:50187960..50187961 [GRCh38]
Chr17:48265321..48265322 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3996T>C (p.Asp1332=) single nucleotide variant Osteogenesis imperfecta type I [RCV000529577] Chr17:50186326 [GRCh38]
Chr17:48263687 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.862G>T (p.Glu288Ter) single nucleotide variant Osteogenesis imperfecta [RCV004525960]|Osteogenesis imperfecta type I [RCV000534334] Chr17:50196525 [GRCh38]
Chr17:48273886 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-4C>G single nucleotide variant Osteogenesis imperfecta type I [RCV001494908]|not provided [RCV000733969] Chr17:50198508 [GRCh38]
Chr17:48275869 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.903+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000527395]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003326451] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1012G>A (p.Gly338Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000534961]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796230]|not provided [RCV001560527] Chr17:50195967 [GRCh38]
Chr17:48273328 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) single nucleotide variant Cardiovascular phenotype [RCV003159740]|Osteogenesis imperfecta type I [RCV000532278]|not provided [RCV000839516] Chr17:50186473 [GRCh38]
Chr17:48263834 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3141TCCTGGTGC[1] (p.1047APG[2]) microsatellite COL1A1-related disorder [RCV004549835]|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV001270301]|Osteogenesis imperfecta [RCV002278641]|Osteogenesis imperfecta type I [RCV002524640]|Osteogenesis imperfecta, perinatal lethal [RCV000623236]|not provided [RCV000413092] Chr17:50188579..50188587 [GRCh38]
Chr17:48265940..48265948 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.796G>C (p.Gly266Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000558433] Chr17:50197018 [GRCh38]
Chr17:48274379 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1862_1865del (p.Pro621fs) deletion Osteogenesis imperfecta [RCV000722159]|Osteogenesis imperfecta type I [RCV000539052] Chr17:50192807..50192810 [GRCh38]
Chr17:48270168..48270171 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.387del (p.Gly130fs) deletion Osteogenesis imperfecta type I [RCV000540153] Chr17:50199310 [GRCh38]
Chr17:48276671 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1354-12G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000490653]|not provided [RCV000413747] Chr17:50194840 [GRCh38]
Chr17:48272201 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4321_4327dup (p.Ala1443fs) duplication Osteogenesis imperfecta type I [RCV000525359] Chr17:50185569..50185570 [GRCh38]
Chr17:48262930..48262931 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.386dup (p.Gly130fs) duplication Osteogenesis imperfecta type I [RCV000505621]|not provided [RCV003222010] Chr17:50199310..50199311 [GRCh38]
Chr17:48276671..48276672 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2595C>G (p.Arg865=) single nucleotide variant Osteogenesis imperfecta type I [RCV000553711] Chr17:50189877 [GRCh38]
Chr17:48267238 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2684del (p.Pro895fs) deletion Osteogenesis imperfecta type I [RCV000554556] Chr17:50189522 [GRCh38]
Chr17:48266883 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) single nucleotide variant Cardiovascular phenotype [RCV002330827]|Osteogenesis imperfecta type I [RCV000541457]|not provided [RCV003736804]|not specified [RCV000610008] Chr17:50185640 [GRCh38]
Chr17:48263001 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3285dup (p.Lys1096fs) duplication Osteogenesis imperfecta type I [RCV000541545] Chr17:50187959..50187960 [GRCh38]
Chr17:48265320..48265321 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3141TCCTGGTGC[3] (p.Gly1055_Pro1056insAlaProGly) microsatellite COL1A1-related disorder [RCV004549834]|Osteogenesis imperfecta [RCV002278640]|Osteogenesis imperfecta type I [RCV002523919]|Osteogenesis imperfecta, perinatal lethal [RCV002260513]|not provided [RCV000414247] Chr17:50188578..50188579 [GRCh38]
Chr17:48265939..48265940 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2810C>A (p.Pro937His) single nucleotide variant Osteogenesis imperfecta type I [RCV000556428] Chr17:50189396 [GRCh38]
Chr17:48266757 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+3_1155+6del deletion not provided [RCV000522596] Chr17:50195561..50195564 [GRCh38]
Chr17:48272922..48272925 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) single nucleotide variant Cardiovascular phenotype [RCV002323613]|Ehlers-Danlos syndrome [RCV002278677]|Osteogenesis imperfecta type I [RCV001084116]|not provided [RCV000710772]|not specified [RCV000423865] Chr17:50185913 [GRCh38]
Chr17:48263274 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1668+16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002060034]|not specified [RCV000417938] Chr17:50194114 [GRCh38]
Chr17:48271475 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.865C>T (p.Pro289Ser) single nucleotide variant not provided [RCV000431408] Chr17:50196522 [GRCh38]
Chr17:48273883 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1249C>T (p.Pro417Ser) single nucleotide variant Cardiovascular phenotype [RCV004609378]|Ehlers-Danlos syndrome [RCV002279198]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125756]|Infantile cortical hyperostosis [RCV001125757]|Osteogenesis imperfecta [RCV001127851]|Osteogenesis imperfecta type I [RCV000540512]|not provided [RCV000766720]|not specified [RCV000434641] Chr17:50195282 [GRCh38]
Chr17:48272643 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4017C>T (p.Gly1339=) single nucleotide variant Cardiovascular phenotype [RCV004609383]|Osteogenesis imperfecta type I [RCV002063548]|not specified [RCV000418055] Chr17:50186009 [GRCh38]
Chr17:48263370 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) single nucleotide variant Cardiovascular phenotype [RCV002328934]|Connective tissue disorder [RCV000659364]|Ehlers-Danlos syndrome [RCV002278663]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127266]|Infantile cortical hyperostosis [RCV001123187]|Osteogenesis imperfecta [RCV001123188]|Osteogenesis imperfecta type I [RCV001085772]|not provided [RCV001703567] Chr17:50185845 [GRCh38]
Chr17:48263206 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2559T>A (p.Ile853=) single nucleotide variant Osteogenesis imperfecta type I [RCV002525486]|not specified [RCV000442408] Chr17:50190001 [GRCh38]
Chr17:48267362 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.964C>T (p.Arg322Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001851108]|not provided [RCV000424837] Chr17:50196193 [GRCh38]
Chr17:48273554 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1515+6C>T single nucleotide variant not provided [RCV001704522] Chr17:50194567 [GRCh38]
Chr17:48271928 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV000540621]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003224274]|not specified [RCV000439178] Chr17:50188134 [GRCh38]
Chr17:48265495 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2716G>A (p.Gly906Ser) single nucleotide variant COL1A1-related disorder [RCV004551423]|Cardiovascular phenotype [RCV002429352]|Osteogenesis imperfecta [RCV002278654]|Osteogenesis imperfecta type I [RCV000878257]|See cases [RCV002222183]|not provided [RCV001712188] Chr17:50189490 [GRCh38]
Chr17:48266851 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1375C>A (p.Pro459Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV000631495]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000765371]|not provided [RCV000422156] Chr17:50194807 [GRCh38]
Chr17:48272168 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1300-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001394062]|not specified [RCV000439809] Chr17:50195109 [GRCh38]
Chr17:48272470 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3255C>T (p.Gly1085=) single nucleotide variant Cardiovascular phenotype [RCV002323653]|Osteogenesis imperfecta type I [RCV001474588]|not provided [RCV000877356]|not specified [RCV004701480] Chr17:50188102 [GRCh38]
Chr17:48265463 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1876-6G>A single nucleotide variant not specified [RCV000419876] Chr17:50192699 [GRCh38]
Chr17:48270060 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) single nucleotide variant Cardiovascular phenotype [RCV002436327]|Osteogenesis imperfecta type I [RCV000631461]|not provided [RCV000429625] Chr17:50189004 [GRCh38]
Chr17:48266365 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2181G>A (p.Gln727=) single nucleotide variant Cardiovascular phenotype [RCV002429435]|Osteogenesis imperfecta type I [RCV000706949]|not provided [RCV001704516] Chr17:50191437 [GRCh38]
Chr17:48268798 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.588+16G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002062327]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002502504]|not provided [RCV000991598]|not specified [RCV000443860] Chr17:50198145 [GRCh38]
Chr17:48275506 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) single nucleotide variant Cardiovascular phenotype [RCV004022348]|Osteogenesis imperfecta type I [RCV001865338]|not provided [RCV000435717] Chr17:50188631 [GRCh38]
Chr17:48265992 [GRCh37]
Chr17:17q21.33		 likely pathogenic|benign|uncertain significance
NM_000088.4(COL1A1):c.1785T>A (p.Ala595=) single nucleotide variant Cardiovascular phenotype [RCV002411333]|Osteogenesis imperfecta type I [RCV000898052]|not specified [RCV000422962] Chr17:50193030 [GRCh38]
Chr17:48270391 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.-43C>T single nucleotide variant not specified [RCV000430185] Chr17:50201556 [GRCh38]
Chr17:48278917 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) single nucleotide variant COL1A1-related disorder [RCV004737336]|Cardiovascular phenotype [RCV002347820]|Ehlers-Danlos syndrome [RCV002277572]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127360]|Hypertrophic cardiomyopathy [RCV003319187]|Infantile cortical hyperostosis [RCV001126949]|Keratoconus [RCV003324521]|Osteogenesis imperfecta [RCV001127361]|Osteogenesis imperfecta type I [RCV000490355]|not provided [RCV000877791]|not specified [RCV002298529] Chr17:50186688 [GRCh38]
Chr17:48264049 [GRCh37]
Chr17:17q21.33		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.165C>T (p.Pro55=) single nucleotide variant not specified [RCV000444267] Chr17:50199886 [GRCh38]
Chr17:48277247 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3237C>A (p.Gly1079=) single nucleotide variant Cardiovascular phenotype [RCV002446732]|Connective tissue disorder [RCV000659357]|Ehlers-Danlos syndrome [RCV002279205]|Osteogenesis imperfecta type I [RCV001471006]|not provided [RCV001698284]|not specified [RCV004800408] Chr17:50188120 [GRCh38]
Chr17:48265481 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.801C>T (p.His267=) single nucleotide variant Cardiovascular phenotype [RCV004022482]|not specified [RCV000426811] Chr17:50197013 [GRCh38]
Chr17:48274374 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3979G>A (p.Gly1327Ser) single nucleotide variant Cardiovascular phenotype [RCV004992218]|Osteogenesis imperfecta type I [RCV002056678]|not provided [RCV000426862] Chr17:50186343 [GRCh38]
Chr17:48263704 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4339G>A (p.Val1447Ile) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126859]|Infantile cortical hyperostosis [RCV001126858]|Osteogenesis imperfecta [RCV001126857]|Osteogenesis imperfecta type I [RCV002521553]|not provided [RCV000430536] Chr17:50185558 [GRCh38]
Chr17:48262919 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1875+8T>A single nucleotide variant Osteogenesis imperfecta type I [RCV002063629]|not provided [RCV004567925]|not specified [RCV000423444] Chr17:50192789 [GRCh38]
Chr17:48270150 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1930G>A (p.Gly644Ser) single nucleotide variant not provided [RCV000441682] Chr17:50192528 [GRCh38]
Chr17:48269889 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter) single nucleotide variant not provided [RCV000442366] Chr17:50198475 [GRCh38]
Chr17:48275836 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_000088.4(COL1A1):c.1635_1643del (p.543SPG[1]) deletion not provided [RCV000482067] Chr17:50194155..50194163 [GRCh38]
Chr17:48271516..48271524 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) single nucleotide variant COL1A1-related disorder [RCV004737549]|Cardiovascular phenotype [RCV002413314]|Ehlers-Danlos syndrome [RCV002279235]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125673]|Infantile cortical hyperostosis [RCV001125672]|Osteogenesis imperfecta [RCV001125674]|Osteogenesis imperfecta type I [RCV000659352]|not provided [RCV001508818] Chr17:50194019 [GRCh38]
Chr17:48271380 [GRCh37]
Chr17:17q21.33		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1056+12dup duplication Osteogenesis imperfecta type I [RCV002063769]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002489163]|not provided [RCV001704631] Chr17:50195910..50195911 [GRCh38]
Chr17:48273271..48273272 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3157_3170del (p.Ala1053fs) deletion Osteogenesis imperfecta type I [RCV001851156]|not provided [RCV000484627] Chr17:50188567..50188580 [GRCh38]
Chr17:48265928..48265941 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3412G>T (p.Ala1138Ser) single nucleotide variant not provided [RCV000481811] Chr17:50187495 [GRCh38]
Chr17:48264856 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3065G>T (p.Gly1022Val) single nucleotide variant Osteogenesis imperfecta [RCV002279243]|Osteogenesis imperfecta type I [RCV003333748]|not provided [RCV000478094] Chr17:50188776 [GRCh38]
Chr17:48266137 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3196C>T (p.Arg1066Cys) single nucleotide variant Cardiovascular phenotype [RCV002323823]|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV001270299]|Osteogenesis imperfecta type I [RCV000794277]|not provided [RCV000485287] Chr17:50188541 [GRCh38]
Chr17:48265902 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_000088.4(COL1A1):c.4035del (p.Ala1346fs) deletion not provided [RCV000486138] Chr17:50185991 [GRCh38]
Chr17:48263352 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3207+1_3207+2del deletion Osteogenesis imperfecta, perinatal lethal [RCV001542609]|not provided [RCV000479169] Chr17:50188528..50188529 [GRCh38]
Chr17:48265889..48265890 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3416G>A (p.Gly1139Asp) single nucleotide variant not provided [RCV000486720] Chr17:50187491 [GRCh38]
Chr17:48264852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.298+20CTGGGGC[4] microsatellite not specified [RCV000487198] Chr17:50199699..50199705 [GRCh38]
Chr17:48277060..48277066 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1247G>A (p.Gly416Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV000496233]|not provided [RCV000520103] Chr17:50195284 [GRCh38]
Chr17:48272645 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3094G>A (p.Ala1032Thr) single nucleotide variant Cardiovascular phenotype [RCV004992283]|Ehlers-Danlos syndrome [RCV002279279]|Osteogenesis imperfecta type I [RCV000631498]|not provided [RCV000497329] Chr17:50188747 [GRCh38]
Chr17:48266108 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3865G>C (p.Val1289Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002527161]|not provided [RCV000497837] Chr17:50186457 [GRCh38]
Chr17:48263818 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter) single nucleotide variant Ehlers-danlos syndrome, arthrochalasia type, 2 [RCV001003534]|Osteogenesis imperfecta [RCV002279256]|Osteogenesis imperfecta type I [RCV000490652]|Stickler syndrome type 2 [RCV004767298]|not provided [RCV001552353] Chr17:50197770 [GRCh38]
Chr17:48275131 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.851G>C (p.Gly284Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000490675] Chr17:50196624 [GRCh38]
Chr17:48273985 [GRCh37]
Chr17:17q21.33		 pathogenic
Single allele deletion Osteogenesis imperfecta type I [RCV000490683] Chr17:48129408..48279727 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|likely benign
NM_000088.4(COL1A1):c.589G>T (p.Gly197Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000490693]|not provided [RCV001269743] Chr17:50198002 [GRCh38]
Chr17:48275363 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3424-6C>G single nucleotide variant Osteogenesis imperfecta type I [RCV000490697] Chr17:50187128 [GRCh38]
Chr17:48264489 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.333+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV000490703] Chr17:50199554 [GRCh38]
Chr17:48276915 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1792C>T (p.Arg598Ter) single nucleotide variant Osteogenesis imperfecta [RCV002279255]|Osteogenesis imperfecta type I [RCV000490706]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002283484]|not provided [RCV001555740] Chr17:50193023 [GRCh38]
Chr17:48270384 [GRCh37]
Chr17:17q21.33		 pathogenic|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.1081C>T (p.Arg361Ter) single nucleotide variant COL1A1-related disorder [RCV004737557]|Osteogenesis imperfecta [RCV002279254]|Osteogenesis imperfecta type I [RCV000490713]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004596228]|Osteogenesis imperfecta, perinatal lethal [RCV001542693]|not provided [RCV001584199] Chr17:50195641 [GRCh38]
Chr17:48273002 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.841G>A (p.Gly281Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000490718] Chr17:50196634 [GRCh38]
Chr17:48273995 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3790A>G (p.Met1264Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000490719] Chr17:50186664 [GRCh38]
Chr17:48264025 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1299+1G>A single nucleotide variant COL1A1-related disorder [RCV004737558]|Osteogenesis imperfecta type I [RCV000490723]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763411]|not provided [RCV001527971] Chr17:50195231 [GRCh38]
Chr17:48272592 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1821+1G>A single nucleotide variant COL1A1-related disorder [RCV004551601]|Cardiovascular phenotype [RCV004992266]|Osteogenesis imperfecta [RCV002221545]|Osteogenesis imperfecta type I [RCV000490727]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000763410]|not provided [RCV000599354] Chr17:50192993 [GRCh38]
Chr17:48270354 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3505G>A (p.Gly1169Ser) single nucleotide variant Abnormality of the skeletal system [RCV001814161]|Infantile cortical hyperostosis [RCV002281097]|Osteogenesis imperfecta [RCV000586484]|Osteogenesis imperfecta type I [RCV000490739]|not provided [RCV000755941] Chr17:50187041 [GRCh38]
Chr17:48264402 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.769G>A (p.Gly257Arg) single nucleotide variant COL1A1-related disorder [RCV004551605]|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV004801922]|Osteogenesis imperfecta [RCV002279257]|Osteogenesis imperfecta type I [RCV000490740]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002489188]|not provided [RCV000520145] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.977G>A (p.Gly326Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV000490742] Chr17:50196180 [GRCh38]
Chr17:48273541 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1243C>T (p.Arg415Ter) single nucleotide variant COL1A1-related disorder [RCV004722824]|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV003313958]|Infantile cortical hyperostosis [RCV001262344]|Osteogenesis imperfecta type I [RCV000490754]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002475959]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796193]|Osteogenesis imperfecta, perinatal lethal [RCV004760530]|not provided [RCV000516899] Chr17:50195288 [GRCh38]
Chr17:48272649 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1002+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV000490762] Chr17:50196153 [GRCh38]
Chr17:48273514 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2335G>A (p.Gly779Ser) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490668] Chr17:50190825 [GRCh38]
Chr17:48268186 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057G>A (p.Gly353Ser) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490671] Chr17:50195665 [GRCh38]
Chr17:48273026 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) single nucleotide variant COL1A1-related disorder [RCV004551602]|Osteogenesis imperfecta type I [RCV001037391]|Osteogenesis imperfecta type III [RCV000490696]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001330770]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796194]|not provided [RCV000596247] Chr17:50188131 [GRCh38]
Chr17:48265492 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3655G>A (p.Asp1219Asn) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490710] Chr17:50186799 [GRCh38]
Chr17:48264160 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2155G>A (p.Gly719Ser) single nucleotide variant Dentinogenesis imperfecta [RCV000584774]|Osteogenesis imperfecta type I [RCV001245339]|Osteogenesis imperfecta type III [RCV000490715]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005018820]|not provided [RCV001584200] Chr17:50191463 [GRCh38]
Chr17:48268824 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3897C>G (p.Cys1299Trp) single nucleotide variant COL1A1-related disorder [RCV004551603]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490717] Chr17:50186425 [GRCh38]
Chr17:48263786 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1201G>A (p.Gly401Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002527010]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490729] Chr17:50195330 [GRCh38]
Chr17:48272691 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2596G>A (p.Gly866Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001213033]|Osteogenesis imperfecta type III [RCV000490749]|See cases [RCV003128405]|not provided [RCV001577310] Chr17:50189876 [GRCh38]
Chr17:48267237 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4239T>A (p.Asp1413Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV000528863]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490751] Chr17:50185787 [GRCh38]
Chr17:48263148 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.2461G>A (p.Gly821Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000548232]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490757]|not provided [RCV001572316] Chr17:50190099 [GRCh38]
Chr17:48267460 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1929+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000505628] Chr17:50192639 [GRCh38]
Chr17:48270000 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2549del (p.Pro850fs) deletion Osteogenesis imperfecta type I [RCV000490651] Chr17:50190011 [GRCh38]
Chr17:48267372 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4332dup (p.Asp1446fs) duplication Osteogenesis imperfecta type I [RCV000490654] Chr17:50185564..50185565 [GRCh38]
Chr17:48262925..48262926 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1127dup (p.Gly377fs) duplication Osteogenesis imperfecta type I [RCV000490655]|not provided [RCV000598940] Chr17:50195594..50195595 [GRCh38]
Chr17:48272955..48272956 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.563G>A (p.Gly188Asp) single nucleotide variant Cardiovascular phenotype [RCV002350082]|Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV001270300]|Osteogenesis imperfecta type I [RCV000490656] Chr17:50198186 [GRCh38]
Chr17:48275547 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3208-6C>T single nucleotide variant Osteogenesis imperfecta type III [RCV000490658] Chr17:50188155 [GRCh38]
Chr17:48265516 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1269del (p.Gly424fs) deletion Osteogenesis imperfecta type I [RCV000490659] Chr17:50195262 [GRCh38]
Chr17:48272623 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2934del (p.Ser979fs) deletion Osteogenesis imperfecta type I [RCV000490661] Chr17:50189171 [GRCh38]
Chr17:48266532 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3607C>T (p.Gln1203Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000490662] Chr17:50186847 [GRCh38]
Chr17:48264208 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3045+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000490672]|not provided [RCV002291645] Chr17:50188902 [GRCh38]
Chr17:48266263 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3788del (p.Lys1263fs) deletion Osteogenesis imperfecta type I [RCV000490673] Chr17:50186666 [GRCh38]
Chr17:48264027 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1261del (p.Gln421fs) deletion Osteogenesis imperfecta type I [RCV000490680] Chr17:50195270 [GRCh38]
Chr17:48272631 [GRCh37]
Chr17:17q21.33		 pathogenic|likely benign
NM_000088.4(COL1A1):c.1292del (p.Gly431fs) deletion Osteogenesis imperfecta type I [RCV000490684] Chr17:50195239 [GRCh38]
Chr17:48272600 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4386del (p.Phe1463fs) deletion Osteogenesis imperfecta type I [RCV000490685] Chr17:50185511 [GRCh38]
Chr17:48262872 [GRCh37]
Chr17:17q21.33		 pathogenic|likely benign
NM_000088.4(COL1A1):c.111_117del (p.Ile38fs) deletion Osteogenesis imperfecta type I [RCV000490687] Chr17:50199934..50199940 [GRCh38]
Chr17:48277295..48277301 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3026del (p.Pro1009fs) deletion Osteogenesis imperfecta type I [RCV000490688] Chr17:50188922 [GRCh38]
Chr17:48266283 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4292C>T (p.Thr1431Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003517203]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490689] Chr17:50185605 [GRCh38]
Chr17:48262966 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2667+3_2667+6del deletion Osteogenesis imperfecta type I [RCV000490691]|not provided [RCV004719834] Chr17:50189673..50189676 [GRCh38]
Chr17:48267034..48267037 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3815G>T (p.Gly1272Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000490761]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000490692]|not provided [RCV002272256] Chr17:50186507 [GRCh38]
Chr17:48263868 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2550del (p.Gly851fs) deletion Osteogenesis imperfecta type I [RCV000490694]|not provided [RCV002266968] Chr17:50190010 [GRCh38]
Chr17:48267371 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.752G>A (p.Gly251Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV000490695] Chr17:50197062 [GRCh38]
Chr17:48274423 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1379del (p.Pro460fs) deletion Osteogenesis imperfecta type I [RCV000490698] Chr17:50194803 [GRCh38]
Chr17:48272164 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2424dup (p.Gly809fs) duplication Osteogenesis imperfecta type I [RCV000490708] Chr17:50190353..50190354 [GRCh38]
Chr17:48267714..48267715 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.972_978dup (p.Ala327Ter) duplication Osteogenesis imperfecta type I [RCV000490721] Chr17:50196178..50196179 [GRCh38]
Chr17:48273539..48273540 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2343+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000490722]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002475958] Chr17:50190816 [GRCh38]
Chr17:48268177 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2525del (p.Gly842fs) deletion Osteogenesis imperfecta type I [RCV000490725] Chr17:50190035 [GRCh38]
Chr17:48267396 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.458dup (p.Gly154fs) duplication Osteogenesis imperfecta type I [RCV000490728]|not provided [RCV000523488] Chr17:50199238..50199239 [GRCh38]
Chr17:48276599..48276600 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.432dup (p.Gly145fs) duplication COL1A1-related disorder [RCV004551604]|Osteogenesis imperfecta type I [RCV000490733] Chr17:50199264..50199265 [GRCh38]
Chr17:48276625..48276626 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1611del (p.Lys538fs) deletion Osteogenesis imperfecta type I [RCV000490734] Chr17:50194352 [GRCh38]
Chr17:48271713 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2668-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000490735]|not provided [RCV004719835] Chr17:50189539 [GRCh38]
Chr17:48266900 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3748_3752dup (p.Ser1251fs) duplication Osteogenesis imperfecta type I [RCV000490738] Chr17:50186701..50186702 [GRCh38]
Chr17:48264062..48264063 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2881del (p.Val961fs) deletion Osteogenesis imperfecta type I [RCV000490741] Chr17:50189224 [GRCh38]
Chr17:48266585 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2091_2092del (p.Ala699fs) deletion Osteogenesis imperfecta type I [RCV000490743] Chr17:50191823..50191824 [GRCh38]
Chr17:48269184..48269185 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2075G>C (p.Gly692Ala) single nucleotide variant Osteogenesis imperfecta type III [RCV000490745] Chr17:50191840 [GRCh38]
Chr17:48269201 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3233_3236del (p.Val1078fs) deletion Osteogenesis imperfecta type I [RCV000490747] Chr17:50188121..50188124 [GRCh38]
Chr17:48265482..48265485 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.65_70del (p.Gly22_Gln23del) deletion Osteogenesis imperfecta type III [RCV000490748] Chr17:50201444..50201449 [GRCh38]
Chr17:48278805..48278810 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1086_1102del (p.Ser363fs) deletion Osteogenesis imperfecta type I [RCV000490756] Chr17:50195620..50195636 [GRCh38]
Chr17:48272981..48272997 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2235+1G>A single nucleotide variant Osteogenesis imperfecta type III [RCV000490759] Chr17:50191382 [GRCh38]
Chr17:48268743 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1157G>A (p.Gly386Glu) single nucleotide variant not specified [RCV000506796] Chr17:50195477 [GRCh38]
Chr17:48272838 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2298_2299inv (p.Gly767Ser) inversion not specified [RCV000507245] Chr17:50190861..50190862 [GRCh38]
Chr17:48268222..48268223 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1363G>A (p.Gly455Ser) single nucleotide variant not specified [RCV000507289] Chr17:50194819 [GRCh38]
Chr17:48272180 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1720del (p.Arg574fs) deletion Osteogenesis imperfecta type I [RCV001389862]|not specified [RCV000507362] Chr17:50193990 [GRCh38]
Chr17:48271351 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3652G>C (p.Ala1218Pro) single nucleotide variant not provided [RCV000492882] Chr17:50186802 [GRCh38]
Chr17:48264163 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.162del (p.Lys54fs) deletion not provided [RCV000492970] Chr17:50199889 [GRCh38]
Chr17:48277250 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000088.4(COL1A1):c.4316T>C (p.Ile1439Thr) single nucleotide variant not specified [RCV000508080] Chr17:50185581 [GRCh38]
Chr17:48262942 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.298+34_298+35delinsTG indel not specified [RCV000508157] Chr17:50199718..50199719 [GRCh38]
Chr17:48277079..48277080 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3443G>A (p.Gly1148Asp) single nucleotide variant Osteogenesis imperfecta type III [RCV000496033] Chr17:50187103 [GRCh38]
Chr17:48264464 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) single nucleotide variant COL1A1-related disorder [RCV004737564]|Osteogenesis imperfecta type I [RCV000496049] Chr17:50185569 [GRCh38]
Chr17:48262930 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2641G>A (p.Gly881Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000495593]|not provided [RCV004722835] Chr17:50189705 [GRCh38]
Chr17:48267066 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3046-20CT[10] microsatellite COL1A1-related disorder [RCV004553176]|Ehlers-Danlos syndrome [RCV002279332]|Osteogenesis imperfecta [RCV002279331]|Osteogenesis imperfecta type I [RCV001079122]|not provided [RCV000514911]|not specified [RCV000178477] Chr17:50188799..50188800 [GRCh38]
Chr17:48266160..48266161 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000526144]|not provided [RCV001580124] Chr17:50197983 [GRCh38]
Chr17:48275344 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1638C>T (p.Ser546=) single nucleotide variant COL1A1-related disorder [RCV004737887]|Cardiovascular phenotype [RCV002404653]|Osteogenesis imperfecta type I [RCV000953856]|not specified [RCV000603957] Chr17:50194160 [GRCh38]
Chr17:48271521 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1533T>G (p.Arg511=) single nucleotide variant Cardiovascular phenotype [RCV002404634]|Osteogenesis imperfecta type I [RCV003631144]|not provided [RCV001712626] Chr17:50194430 [GRCh38]
Chr17:48271791 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.262G>T (p.Glu88Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000802325]|not provided [RCV000578718] Chr17:50199789 [GRCh38]
Chr17:48277150 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-1G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001809680]|not provided [RCV000578947] Chr17:50198505 [GRCh38]
Chr17:48275866 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1243C>A (p.Arg415=) single nucleotide variant Cardiovascular phenotype [RCV003278247] Chr17:50195288 [GRCh38]
Chr17:48272649 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2908_2911del (p.Arg970fs) microsatellite Osteogenesis imperfecta type I [RCV000531574]|Osteogenesis imperfecta type III [RCV002250652] Chr17:50189194..50189197 [GRCh38]
Chr17:48266555..48266558 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.696+5del deletion Osteogenesis imperfecta type I [RCV003313757] Chr17:50197727 [GRCh38]
Chr17:48275088 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48264825)_(48280990_?)dup duplication Osteogenesis imperfecta type I [RCV000535870] Chr17:50187464..50203629 [GRCh38]
Chr17:48264825..48280990 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2203G>T (p.Ala735Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000534815] Chr17:50191415 [GRCh38]
Chr17:48268776 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.228C>G (p.Asp76Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV000535747] Chr17:50199823 [GRCh38]
Chr17:48277184 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2668-12A>G single nucleotide variant COL1A1-related disorder [RCV004547736]|Osteogenesis imperfecta type I [RCV002065439]|not provided [RCV000710766]|not specified [RCV000605681] Chr17:50189550 [GRCh38]
Chr17:48266911 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2235+11C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002529718]|not specified [RCV000605711] Chr17:50191372 [GRCh38]
Chr17:48268733 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) single nucleotide variant Cardiovascular phenotype [RCV003380626]|Osteogenesis imperfecta type I [RCV001473676]|not provided [RCV000597893] Chr17:50188099 [GRCh38]
Chr17:48265460 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.3045+3G>A single nucleotide variant Cardiovascular phenotype [RCV002448622]|Osteogenesis imperfecta type I [RCV000537927]|not provided [RCV001696985]|not specified [RCV003230530] Chr17:50188900 [GRCh38]
Chr17:48266261 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3825G>A (p.Trp1275Ter) single nucleotide variant Osteogenesis imperfecta [RCV002279334]|Osteogenesis imperfecta type I [RCV000538278] Chr17:50186497 [GRCh38]
Chr17:48263858 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1103G>C (p.Gly368Ala) single nucleotide variant Osteogenesis imperfecta [RCV001260276]|Osteogenesis imperfecta type I [RCV000538665] Chr17:50195619 [GRCh38]
Chr17:48272980 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4148A>G (p.Asn1383Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000631470] Chr17:50185878 [GRCh38]
Chr17:48263239 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2428C>T (p.Pro810Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000631477]|not provided [RCV003227811] Chr17:50190350 [GRCh38]
Chr17:48267711 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1369C>T (p.Gln457Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000631482]|not provided [RCV001555220] Chr17:50194813 [GRCh38]
Chr17:48272174 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1111G>A (p.Gly371Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000631492] Chr17:50195611 [GRCh38]
Chr17:48272972 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) single nucleotide variant COL1A1-related disorder [RCV004547778]|Cardiovascular phenotype [RCV004992413]|Osteogenesis imperfecta type I [RCV000631503]|not provided [RCV001584459] Chr17:50195590 [GRCh38]
Chr17:48272951 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) single nucleotide variant Cardiovascular phenotype [RCV002395293]|Osteogenesis imperfecta type I [RCV000559356]|not provided [RCV004783804] Chr17:50194759 [GRCh38]
Chr17:48272120 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2534G>C (p.Gly845Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000631463] Chr17:50190026 [GRCh38]
Chr17:48267387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1930-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000631496] Chr17:50192529 [GRCh38]
Chr17:48269890 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2400A>G (p.Gly800=) single nucleotide variant Osteogenesis imperfecta type I [RCV000631500] Chr17:50190378 [GRCh38]
Chr17:48267739 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.10:g.(?_48262843)_(48277749_?)dup duplication Osteogenesis imperfecta type I [RCV000631514] Chr17:50185482..50200388 [GRCh38]
Chr17:48262843..48277749 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3893C>A (p.Thr1298Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV000533081]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005018906] Chr17:50186429 [GRCh38]
Chr17:48263790 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1516-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000560259] Chr17:50194448 [GRCh38]
Chr17:48271809 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1382del (p.Gly461fs) deletion Osteogenesis imperfecta type I [RCV000631462]|not provided [RCV004722992] Chr17:50194800 [GRCh38]
Chr17:48272161 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4329_4332dup (p.Leu1445fs) duplication Osteogenesis imperfecta type I [RCV000631468] Chr17:50185564..50185565 [GRCh38]
Chr17:48262925..48262926 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.481_499dup (p.Tyr167fs) duplication Osteogenesis imperfecta type I [RCV000631471] Chr17:50198476..50198477 [GRCh38]
Chr17:48275837..48275838 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.557C>T (p.Pro186Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV000631481] Chr17:50198192 [GRCh38]
Chr17:48275553 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2539G>A (p.Ala847Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001460387] Chr17:50190021 [GRCh38]
Chr17:48267382 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1678G>T (p.Gly560Cys) single nucleotide variant COL1A1-related disorder [RCV004547777]|Osteogenesis imperfecta type I [RCV000631487]|not provided [RCV003139957] Chr17:50194032 [GRCh38]
Chr17:48271393 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1057-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000631476] Chr17:50195666 [GRCh38]
Chr17:48273027 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.229G>T (p.Glu77Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000631479] Chr17:50199822 [GRCh38]
Chr17:48277183 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) single nucleotide variant COL1A1-related disorder [RCV004737908]|Cardiovascular phenotype [RCV002448936]|Ehlers-Danlos syndrome [RCV002279451]|Infantile cortical hyperostosis [RCV003330848]|Osteogenesis imperfecta [RCV002279450]|Osteogenesis imperfecta type I [RCV000631488]|not provided [RCV001566557] Chr17:50188780 [GRCh38]
Chr17:48266141 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance|not provided
NM_000088.4(COL1A1):c.2601C>T (p.Ser867=) single nucleotide variant Osteogenesis imperfecta type I [RCV000631501]|not provided [RCV004704139] Chr17:50189871 [GRCh38]
Chr17:48267232 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1881C>T (p.Pro627=) single nucleotide variant Cardiovascular phenotype [RCV002413800]|Osteogenesis imperfecta type I [RCV000631504]|not provided [RCV002060716] Chr17:50192688 [GRCh38]
Chr17:48270049 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.765G>A (p.Leu255=) single nucleotide variant Osteogenesis imperfecta type I [RCV000631507] Chr17:50197049 [GRCh38]
Chr17:48274410 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) single nucleotide variant Cardiovascular phenotype [RCV002431804]|Osteogenesis imperfecta type I [RCV001515882]|not specified [RCV000606771] Chr17:50190094 [GRCh38]
Chr17:48267455 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4362C>T (p.Phe1454=) single nucleotide variant not specified [RCV000601428] Chr17:50185535 [GRCh38]
Chr17:48262896 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1983+9G>C single nucleotide variant Ehlers-Danlos syndrome [RCV002279302]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127685]|Infantile cortical hyperostosis [RCV001127684]|Osteogenesis imperfecta [RCV001127683]|Osteogenesis imperfecta type I [RCV000631506]|not provided [RCV003736801]|not specified [RCV000516999] Chr17:50192466 [GRCh38]
Chr17:48269827 [GRCh37]
Chr17:17q21.33		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.2343+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003117411]|not specified [RCV000607172] Chr17:50190799 [GRCh38]
Chr17:48268160 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.588+15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002064177]|not provided [RCV001811102]|not specified [RCV000607653] Chr17:50198146 [GRCh38]
Chr17:48275507 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1461+13G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001121994]|Infantile cortical hyperostosis [RCV001124764]|Osteogenesis imperfecta [RCV001124765]|Osteogenesis imperfecta type I [RCV002063266]|not provided [RCV001701056]|not specified [RCV000612179] Chr17:50194708 [GRCh38]
Chr17:48272069 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3099+15C>A single nucleotide variant not specified [RCV000612267] Chr17:50188727 [GRCh38]
Chr17:48266088 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1703del (p.Pro568fs) deletion Osteogenesis imperfecta type I [RCV000631465] Chr17:50194007 [GRCh38]
Chr17:48271368 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.962dup (p.Arg322fs) duplication Osteogenesis imperfecta type I [RCV000631483] Chr17:50196194..50196195 [GRCh38]
Chr17:48273555..48273556 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.(?_50198141)_(50198524_?)del deletion Osteogenesis imperfecta type I [RCV000631516] Chr17:50198141..50198524 [GRCh38]
Chr17:48275502..48275885 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3726C>A (p.Ile1242=) single nucleotide variant Cardiovascular phenotype [RCV002350465]|Osteogenesis imperfecta type I [RCV002529491]|not specified [RCV000612310] Chr17:50186728 [GRCh38]
Chr17:48264089 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3688G>A (p.Glu1230Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV000539210]|not provided [RCV003114655] Chr17:50186766 [GRCh38]
Chr17:48264127 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.388G>T (p.Gly130Cys) single nucleotide variant Inborn genetic diseases [RCV000624717] Chr17:50199309 [GRCh38]
Chr17:48276670 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.750+12G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001122186]|Infantile cortical hyperostosis [RCV001122187]|Osteogenesis imperfecta [RCV001122185]|Osteogenesis imperfecta type I [RCV002062839]|not provided [RCV000991600]|not specified [RCV000609793] Chr17:50197168 [GRCh38]
Chr17:48274529 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2573C>G (p.Ala858Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV000541224] Chr17:50189899 [GRCh38]
Chr17:48267260 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.-41C>T single nucleotide variant not specified [RCV000615910] Chr17:50201554 [GRCh38]
Chr17:48278915 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2532C>T (p.Ala844=) single nucleotide variant Cardiovascular phenotype [RCV002431779]|Osteogenesis imperfecta type I [RCV001462571]|not provided [RCV000877039] Chr17:50190028 [GRCh38]
Chr17:48267389 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1929+17G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002528634]|not specified [RCV000610104] Chr17:50192623 [GRCh38]
Chr17:48269984 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) single nucleotide variant COL1A1-related disorder [RCV004553356]|Cardiovascular phenotype [RCV002325151]|Osteogenesis imperfecta type I [RCV001510275]|not provided [RCV001722647] Chr17:50187936 [GRCh38]
Chr17:48265297 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1547del (p.Pro516fs) deletion not provided [RCV000524066] Chr17:50194416 [GRCh38]
Chr17:48271777 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2613+13C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001127596]|Infantile cortical hyperostosis [RCV001127597]|Osteogenesis imperfecta [RCV001127598]|Osteogenesis imperfecta type I [RCV002063206]|not provided [RCV000710765]|not specified [RCV000613072] Chr17:50189846 [GRCh38]
Chr17:48267207 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2397+13G>A single nucleotide variant not specified [RCV000613171] Chr17:50190530 [GRCh38]
Chr17:48267891 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3465C>T (p.Leu1155=) single nucleotide variant Cardiovascular phenotype [RCV002460095]|Ehlers-Danlos syndrome [RCV002279427]|Osteogenesis imperfecta type I [RCV001471921]|not provided [RCV000616365] Chr17:50187081 [GRCh38]
Chr17:48264442 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.459T>C (p.Pro153=) single nucleotide variant not specified [RCV000607733] Chr17:50199238 [GRCh38]
Chr17:48276599 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2829+20T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002529686]|not specified [RCV000613232] Chr17:50189357 [GRCh38]
Chr17:48266718 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3726C>T (p.Ile1242=) single nucleotide variant Cardiovascular phenotype [RCV002350178]|Osteogenesis imperfecta type I [RCV000556202]|not provided [RCV004597818] Chr17:50186728 [GRCh38]
Chr17:48264089 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2128-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV000533873]|not specified [RCV001000789] Chr17:50191491 [GRCh38]
Chr17:48268852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) single nucleotide variant Cardiovascular phenotype [RCV002438296]|Osteogenesis imperfecta type I [RCV000525106]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002497061]|not provided [RCV003319367] Chr17:50189870 [GRCh38]
Chr17:48267231 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4081G>A (p.Glu1361Lys) single nucleotide variant Osteogenesis imperfecta [RCV001260275]|Osteogenesis imperfecta type I [RCV001294624]|not provided [RCV000585575] Chr17:50185945 [GRCh38]
Chr17:48263306 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) single nucleotide variant Cardiovascular phenotype [RCV004609455]|Osteogenesis imperfecta [RCV002279424]|Osteogenesis imperfecta type I [RCV001511573]|not provided [RCV001719020] Chr17:50199289 [GRCh38]
Chr17:48276650 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.770del (p.Gly257fs) deletion Osteogenesis imperfecta type I [RCV000557376] Chr17:50197044 [GRCh38]
Chr17:48274405 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3301G>T (p.Glu1101Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001220819]|not provided [RCV000627343] Chr17:50187944 [GRCh38]
Chr17:48265305 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.642+11T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002066711]|not specified [RCV000608424] Chr17:50197938 [GRCh38]
Chr17:48275299 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3687C>T (p.Leu1229=) single nucleotide variant Cardiovascular phenotype [RCV002456367]|Osteogenesis imperfecta type I [RCV003517247]|not specified [RCV000608447] Chr17:50186767 [GRCh38]
Chr17:48264128 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2127+12G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002066645]|not specified [RCV000611081] Chr17:50191776 [GRCh38]
Chr17:48269137 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs) deletion Inborn genetic diseases [RCV000623672] Chr17:50194591..50194592 [GRCh38]
Chr17:48271952..48271953 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1393G>T (p.Glu465Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000529907] Chr17:50194789 [GRCh38]
Chr17:48272150 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) single nucleotide variant Cardiovascular phenotype [RCV002456053]|Ehlers-Danlos syndrome [RCV002279333]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125395]|Infantile cortical hyperostosis [RCV001125394]|Osteogenesis imperfecta [RCV001124398]|Osteogenesis imperfecta type I [RCV000530956] Chr17:50187484 [GRCh38]
Chr17:48264845 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2235+11C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002531530]|not specified [RCV000608724] Chr17:50191372 [GRCh38]
Chr17:48268733 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) single nucleotide variant Cardiovascular phenotype [RCV002413713]|Osteogenesis imperfecta type I [RCV002529499]|not provided [RCV001712630]|not specified [RCV005000377] Chr17:50193003 [GRCh38]
Chr17:48270364 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1200+2dup duplication Osteogenesis imperfecta type I [RCV000539578] Chr17:50195431..50195432 [GRCh38]
Chr17:48272792..48272793 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2344-7C>T single nucleotide variant not provided [RCV000934799]|not specified [RCV000611622] Chr17:50190603 [GRCh38]
Chr17:48267964 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1057-3C>G single nucleotide variant Osteogenesis imperfecta type I [RCV000534038] Chr17:50195668 [GRCh38]
Chr17:48273029 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1515+20G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001855216]|not specified [RCV000612008] Chr17:50194553 [GRCh38]
Chr17:48271914 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2668-7C>T single nucleotide variant not specified [RCV000614782] Chr17:50189545 [GRCh38]
Chr17:48266906 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1461+7G>A single nucleotide variant COL1A1-related disorder [RCV004553173]|Osteogenesis imperfecta type I [RCV000535391] Chr17:50194714 [GRCh38]
Chr17:48272075 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) single nucleotide variant COL1A1-related disorder [RCV004553174]|Cardiovascular phenotype [RCV002404378]|Osteogenesis imperfecta type I [RCV000536271]|not provided [RCV001696931] Chr17:50194376 [GRCh38]
Chr17:48271737 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3468C>T (p.Asn1156=) single nucleotide variant Cardiovascular phenotype [RCV002460084]|Osteogenesis imperfecta type I [RCV000536412]|not provided [RCV001696937] Chr17:50187078 [GRCh38]
Chr17:48264439 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) single nucleotide variant Cardiovascular phenotype [RCV002413799]|Osteogenesis imperfecta type I [RCV000631469] Chr17:50193022 [GRCh38]
Chr17:48270383 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1099C>T (p.Gln367Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000631473] Chr17:50195623 [GRCh38]
Chr17:48272984 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) single nucleotide variant Cardiovascular phenotype [RCV002431861]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001128046]|Infantile cortical hyperostosis [RCV001128045]|Osteogenesis imperfecta [RCV001128044]|Osteogenesis imperfecta type I [RCV000631478]|not provided [RCV001591407] Chr17:50199800 [GRCh38]
Chr17:48277161 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.599G>T (p.Gly200Val) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV003444610]|Osteogenesis imperfecta type I [RCV000631480]|not provided [RCV001091446] Chr17:50197992 [GRCh38]
Chr17:48275353 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3431dup (p.Gly1145fs) duplication Osteogenesis imperfecta type I [RCV000631484] Chr17:50187114..50187115 [GRCh38]
Chr17:48264475..48264476 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV000631489] Chr17:50198429 [GRCh38]
Chr17:48275790 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.805G>C (p.Gly269Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000631491] Chr17:50196670 [GRCh38]
Chr17:48274031 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3754C>A (p.Arg1252Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000631494] Chr17:50186700 [GRCh38]
Chr17:48264061 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1A>G (p.Met1Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000631497]|not provided [RCV001796147] Chr17:50201513 [GRCh38]
Chr17:48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2112C>A (p.Gly704=) single nucleotide variant Cardiovascular phenotype [RCV004609459]|Osteogenesis imperfecta type I [RCV000631499] Chr17:50191803 [GRCh38]
Chr17:48269164 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3532-8C>T single nucleotide variant Osteogenesis imperfecta type I [RCV000631502] Chr17:50186930 [GRCh38]
Chr17:48264291 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.10:g.(?_48264825)_(48278894_?)dup duplication Osteogenesis imperfecta type I [RCV000631515] Chr17:50187464..50201533 [GRCh38]
Chr17:48264825..48278894 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4017C>A (p.Gly1339=) single nucleotide variant Cardiovascular phenotype [RCV002358762]|Osteogenesis imperfecta type I [RCV001434070] Chr17:50186009 [GRCh38]
Chr17:48263370 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.126G>C (p.Gln42His) single nucleotide variant Osteogenesis imperfecta type I [RCV000631510] Chr17:50199925 [GRCh38]
Chr17:48277286 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.972T>C (p.Asn324=) single nucleotide variant Osteogenesis imperfecta type I [RCV000631508] Chr17:50196185 [GRCh38]
Chr17:48273546 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3168del (p.Val1057fs) deletion Joint hypermobility [RCV000626589] Chr17:50188569 [GRCh38]
Chr17:48265930 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.471+14C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002062966]|not provided [RCV001697354] Chr17:50199212 [GRCh38]
Chr17:48276573 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3504C>T (p.Arg1168=) single nucleotide variant COL1A1-related disorder [RCV004553361]|Cardiovascular phenotype [RCV002456345]|Ehlers-Danlos syndrome [RCV002279408]|Osteogenesis imperfecta [RCV002279407]|Osteogenesis imperfecta type I [RCV001398828]|not provided [RCV001579993]|not specified [RCV000603747] Chr17:50187042 [GRCh38]
Chr17:48264403 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3102T>C (p.Gly1034=) single nucleotide variant COL1A1-related disorder [RCV004547742]|Cardiovascular phenotype [RCV002325177]|Connective tissue disorder [RCV000680478]|Ehlers-Danlos syndrome [RCV002279430]|Osteogenesis imperfecta [RCV002279429]|Osteogenesis imperfecta type I [RCV000631509]|not provided [RCV001310366]|not specified [RCV000604486] Chr17:50188635 [GRCh38]
Chr17:48265996 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3425G>T (p.Gly1142Val) single nucleotide variant Osteogenesis imperfecta [RCV000722161]|not provided [RCV004820098] Chr17:50187121 [GRCh38]
Chr17:48264482 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3532-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002529536]|not specified [RCV000600322] Chr17:50186935 [GRCh38]
Chr17:48264296 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3270del (p.Gly1091fs) deletion Osteogenesis imperfecta [RCV000511997] Chr17:50187975 [GRCh38]
Chr17:48265336 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3923C>A (p.Ala1308Asp) single nucleotide variant not provided [RCV000596228] Chr17:50186399 [GRCh38]
Chr17:48263760 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1984-7C>G single nucleotide variant COL1A1-related disorder [RCV004547738]|Osteogenesis imperfecta type I [RCV001514640]|not provided [RCV001698406] Chr17:50192031 [GRCh38]
Chr17:48269392 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1621A>G (p.Thr541Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001860172]|not provided [RCV000597522] Chr17:50194177 [GRCh38]
Chr17:48271538 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2937+9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517239]|not specified [RCV000606676] Chr17:50189159 [GRCh38]
Chr17:48266520 [GRCh37]
Chr17:17q21.33		 likely benign
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
NM_000088.4(COL1A1):c.2784del (p.Gly929fs) deletion Osteogenesis imperfecta type I [RCV000689473]|not provided [RCV000627425] Chr17:50189422 [GRCh38]
Chr17:48266783 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1465G>T (p.Gly489Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003517255]|not provided [RCV000627360] Chr17:50194623 [GRCh38]
Chr17:48271984 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000088.4(COL1A1):c.4005+5G>A single nucleotide variant Cardiovascular phenotype [RCV002376949]|Ehlers-Danlos syndrome [RCV002279299]|Osteogenesis imperfecta type I [RCV000631475]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002496974]|not provided [RCV000513599]|not specified [RCV001001319] Chr17:50186312 [GRCh38]
Chr17:48263673 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1876-8C>T single nucleotide variant Osteogenesis imperfecta type I [RCV000631464] Chr17:50192701 [GRCh38]
Chr17:48270062 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.471+5G>T single nucleotide variant Osteogenesis imperfecta type I [RCV000631467] Chr17:50199221 [GRCh38]
Chr17:48276582 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3406G>A (p.Gly1136Ser) single nucleotide variant not provided [RCV000658459] Chr17:50187501 [GRCh38]
Chr17:48264862 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3379G>T (p.Gly1127Cys) single nucleotide variant not provided [RCV000658460] Chr17:50187528 [GRCh38]
Chr17:48264889 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3251G>A (p.Arg1084His) single nucleotide variant Osteogenesis imperfecta type I [RCV001855382]|not provided [RCV000658788] Chr17:50188106 [GRCh38]
Chr17:48265467 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2299G>A (p.Gly767Ser) single nucleotide variant Osteogenesis imperfecta [RCV002279474]|Osteogenesis imperfecta type I [RCV000690534]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796266]|not provided [RCV000657898] Chr17:50190861 [GRCh38]
Chr17:48268222 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1615G>A (p.Gly539Ser) single nucleotide variant not provided [RCV000658384] Chr17:50194183 [GRCh38]
Chr17:48271544 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2180A>C (p.Gln727Pro) single nucleotide variant not provided [RCV000658789] Chr17:50191438 [GRCh38]
Chr17:48268799 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.212dup (p.Asp71fs) duplication Osteogenesis imperfecta type I [RCV000700526] Chr17:50199838..50199839 [GRCh38]
Chr17:48277199..48277200 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.679G>A (p.Gly227Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000697699] Chr17:50197749 [GRCh38]
Chr17:48275110 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2387G>A (p.Arg796His) single nucleotide variant COL1A1-related disorder [RCV004547863]|Cardiovascular phenotype [RCV004993966]|Osteogenesis imperfecta type I [RCV000698296] Chr17:50190553 [GRCh38]
Chr17:48267914 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2405G>A (p.Arg802His) single nucleotide variant Osteogenesis imperfecta type I [RCV000700301]|not provided [RCV001849066] Chr17:50190373 [GRCh38]
Chr17:48267734 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2845C>T (p.Pro949Ser) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV000844903]|Osteogenesis imperfecta type I [RCV000687032] Chr17:50189260 [GRCh38]
Chr17:48266621 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance|not provided
NM_000088.4(COL1A1):c.21C>G (p.Leu7=) single nucleotide variant Connective tissue disorder [RCV000680482] Chr17:50201493 [GRCh38]
Chr17:48278854 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) single nucleotide variant Connective tissue disorder [RCV000680481]|Osteogenesis imperfecta type I [RCV001247288]|not provided [RCV001508819] Chr17:50195660 [GRCh38]
Chr17:48273021 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2998A>G (p.Met1000Val) single nucleotide variant Cardiovascular phenotype [RCV004993933]|Connective tissue disorder [RCV000680479]|Osteogenesis imperfecta type I [RCV000959357] Chr17:50188950 [GRCh38]
Chr17:48266311 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) microsatellite Cardiovascular phenotype [RCV002331337]|Osteogenesis imperfecta type I [RCV000688087]|not provided [RCV001584559] Chr17:50199251..50199259 [GRCh38]
Chr17:48276612..48276620 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3578G>A (p.Ser1193Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV000699710] Chr17:50186876 [GRCh38]
Chr17:48264237 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.853C>G (p.Pro285Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000685713] Chr17:50196622 [GRCh38]
Chr17:48273983 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1299C>T (p.Ser433=) single nucleotide variant Osteogenesis imperfecta type I [RCV000700335]|not provided [RCV003736891] Chr17:50195232 [GRCh38]
Chr17:48272593 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.802A>T (p.Arg268Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000700349] Chr17:50197012 [GRCh38]
Chr17:48274373 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1200+5G>A single nucleotide variant COL1A1-related disorder [RCV004547855]|Cardiovascular phenotype [RCV003362890]|Osteogenesis imperfecta type I [RCV000686632]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002499220]|not provided [RCV001558144] Chr17:50195429 [GRCh38]
Chr17:48272790 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1614+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001229746]|not provided [RCV000710758] Chr17:50194348 [GRCh38]
Chr17:48271709 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.256del (p.Val86fs) deletion not provided [RCV000710764] Chr17:50199795 [GRCh38]
Chr17:48277156 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1654A>T (p.Lys552Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000704376] Chr17:50194144 [GRCh38]
Chr17:48271505 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+10C>T single nucleotide variant COL1A1-related disorder [RCV004737969]|Osteogenesis imperfecta type I [RCV000706975] Chr17:50198423 [GRCh38]
Chr17:48275784 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2197C>T (p.Arg733Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000693048] Chr17:50191421 [GRCh38]
Chr17:48268782 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3593del (p.Phe1198fs) deletion Osteogenesis imperfecta type I [RCV000701852] Chr17:50186861 [GRCh38]
Chr17:48264222 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1237G>C (p.Gly413Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000687601] Chr17:50195294 [GRCh38]
Chr17:48272655 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3641del (p.Arg1214fs) deletion Osteogenesis imperfecta type I [RCV000704508] Chr17:50186813 [GRCh38]
Chr17:48264174 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1394del (p.Glu465fs) deletion Osteogenesis imperfecta type I [RCV000704512] Chr17:50194788 [GRCh38]
Chr17:48272149 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3389G>A (p.Gly1130Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV000695079] Chr17:50187518 [GRCh38]
Chr17:48264879 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3008del (p.Pro1003fs) deletion Osteogenesis imperfecta [RCV002279489]|Osteogenesis imperfecta type I [RCV000693485]|not provided [RCV001008789] Chr17:50188940 [GRCh38]
Chr17:48266301 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.334-9A>G single nucleotide variant Osteogenesis imperfecta [RCV002279487]|Osteogenesis imperfecta type I [RCV000690720]|not provided [RCV001540744] Chr17:50199462 [GRCh38]
Chr17:48276823 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.572del (p.Gly191fs) deletion Osteogenesis imperfecta type I [RCV000705305] Chr17:50198177 [GRCh38]
Chr17:48275538 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.424G>A (p.Gly142Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000688709]|not provided [RCV001756170] Chr17:50199273 [GRCh38]
Chr17:48276634 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.298+6G>T single nucleotide variant COL1A1-related disorder [RCV004547875]|Osteogenesis imperfecta type I [RCV000705626] Chr17:50199747 [GRCh38]
Chr17:48277108 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1192_1199del (p.Gly398fs) deletion Osteogenesis imperfecta type I [RCV000685043] Chr17:50195435..50195442 [GRCh38]
Chr17:48272796..48272803 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3225del (p.Gly1076fs) deletion Osteogenesis imperfecta type I [RCV000685308] Chr17:50188132 [GRCh38]
Chr17:48265493 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4248G>A (p.Thr1416=) single nucleotide variant Cardiovascular phenotype [RCV004026499]|Osteogenesis imperfecta type I [RCV000700056] Chr17:50185778 [GRCh38]
Chr17:48263139 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000689370] Chr17:50197773 [GRCh38]
Chr17:48275134 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3487G>A (p.Gly1163Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000706274] Chr17:50187059 [GRCh38]
Chr17:48264420 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2424_2425insCG (p.Gly809fs) insertion Osteogenesis imperfecta type I [RCV000700568] Chr17:50190353..50190354 [GRCh38]
Chr17:48267714..48267715 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.697-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV000703698]|not provided [RCV001592900] Chr17:50197234 [GRCh38]
Chr17:48274595 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.571G>A (p.Gly191Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000697426] Chr17:50198178 [GRCh38]
Chr17:48275539 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.3(COL1A1):c.3131_3133delinsT (p.Pro1044fs) indel not provided [RCV000710769] Chr17:50188604..50188606 [GRCh38]
Chr17:48265965..48265967 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1128del (p.Gly377fs) deletion Cardiovascular phenotype [RCV002325428]|Osteogenesis imperfecta [RCV004702350]|Osteogenesis imperfecta type I [RCV000703850]|Osteogenesis imperfecta type III [RCV002250685]|See cases [RCV003334391]|not provided [RCV003128653] Chr17:50195594 [GRCh38]
Chr17:48272955 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2344-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000697550] Chr17:50190597 [GRCh38]
Chr17:48267958 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3566dup (p.Gly1190fs) duplication Osteogenesis imperfecta type I [RCV000704055] Chr17:50186887..50186888 [GRCh38]
Chr17:48264248..48264249 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) single nucleotide variant Cardiovascular phenotype [RCV002369933]|Osteogenesis imperfecta type I [RCV000702037]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002060881]|not provided [RCV004588143] Chr17:50186328 [GRCh38]
Chr17:48263689 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2216C>T (p.Pro739Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV000702311] Chr17:50191402 [GRCh38]
Chr17:48268763 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2053C>T (p.Arg685Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000695464]|not provided [RCV003229855] Chr17:50191862 [GRCh38]
Chr17:48269223 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4369G>A (p.Asp1457Asn) single nucleotide variant Cardiovascular phenotype [RCV004026594]|Osteogenesis imperfecta type I [RCV000702472]|not provided [RCV001771993] Chr17:50185528 [GRCh38]
Chr17:48262889 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2T>C (p.Met1Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV000702474] Chr17:50201512 [GRCh38]
Chr17:48278873 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.841_848del (p.Gly281fs) deletion Osteogenesis imperfecta type I [RCV000688236] Chr17:50196627..50196634 [GRCh38]
Chr17:48273988..48273995 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3895T>A (p.Cys1299Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000693453] Chr17:50186427 [GRCh38]
Chr17:48263788 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.11:g.50196345_50196351delinsACCTCTCA indel Osteogenesis imperfecta type I [RCV000707513] Chr17:50196345..50196351 [GRCh38]
Chr17:48273706..48273712 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2127+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000695888] Chr17:50191786 [GRCh38]
Chr17:48269147 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2560G>C (p.Gly854Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV000705317] Chr17:50189912 [GRCh38]
Chr17:48267273 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.697-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000705639] Chr17:50197234 [GRCh38]
Chr17:48274595 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1693C>A (p.Pro565Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV000696544] Chr17:50194017 [GRCh38]
Chr17:48271378 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2684dup (p.Gly896fs) duplication Osteogenesis imperfecta type I [RCV000698796] Chr17:50189521..50189522 [GRCh38]
Chr17:48266882..48266883 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2449C>A (p.Pro817Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV000700409] Chr17:50190329 [GRCh38]
Chr17:48267690 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2830-1G>A single nucleotide variant Osteogenesis imperfecta [RCV002279492]|Osteogenesis imperfecta type I [RCV000700462] Chr17:50189276 [GRCh38]
Chr17:48266637 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2424del (p.Gly809fs) deletion Osteogenesis imperfecta type I [RCV000703460] Chr17:50190354 [GRCh38]
Chr17:48267715 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3G>A (p.Met1Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV000686962]|not provided [RCV001823161] Chr17:50201511 [GRCh38]
Chr17:48278872 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3531+1G>A single nucleotide variant Osteogenesis imperfecta [RCV001796185]|Osteogenesis imperfecta type I [RCV000689406] Chr17:50187014 [GRCh38]
Chr17:48264375 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.937C>T (p.Pro313Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000689514]|not provided [RCV002510956] Chr17:50196334 [GRCh38]
Chr17:48273695 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2463C>A (p.Gly821=) single nucleotide variant Cardiovascular phenotype [RCV004607997] Chr17:50190097 [GRCh38]
Chr17:48267458 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1822-10C>T single nucleotide variant not provided [RCV001547327] Chr17:50192860 [GRCh38]
Chr17:48270221 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-46G>A single nucleotide variant not provided [RCV001566140] Chr17:50197279 [GRCh38]
Chr17:48274640 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1134del (p.Ala379fs) deletion Abnormal bleeding [RCV000851994] Chr17:50195588 [GRCh38]
Chr17:48272949 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001385147]|Osteogenesis imperfecta, perinatal lethal [RCV001822862]|not provided [RCV001547154]|not specified [RCV001002442] Chr17:50191805 [GRCh38]
Chr17:48269166 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4371C>T (p.Asp1457=) single nucleotide variant Cardiovascular phenotype [RCV002329693]|Osteogenesis imperfecta type I [RCV002579466]|not provided [RCV001582172] Chr17:50185526 [GRCh38]
Chr17:48262887 [GRCh37]
Chr17:17q21.33		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000088.4(COL1A1):c.2172del (p.Gly725fs) deletion Osteogenesis imperfecta type I [RCV000735822] Chr17:50191446 [GRCh38]
Chr17:48268807 [GRCh37]
Chr17:17q21.33		 pathogenic
GRCh37/hg19 17q21.33(chr17:48263089-48278931)x1 copy number loss not provided [RCV000739616] Chr17:48263089..48278931 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2471del (p.Gly824fs) deletion not provided [RCV001531275] Chr17:50190089 [GRCh38]
Chr17:48267450 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3261+1G>A single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002290726]|not provided [RCV001583097] Chr17:50188095 [GRCh38]
Chr17:48265456 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.325G>C (p.Gly109Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001400552]|not provided [RCV000871724]|not specified [RCV004768727] Chr17:50199564 [GRCh38]
Chr17:48276925 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2236-158C>A single nucleotide variant not provided [RCV001725024] Chr17:50191082 [GRCh38]
Chr17:48268443 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3806G>A (p.Trp1269Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001866249]|not provided [RCV001596868] Chr17:50186648 [GRCh38]
Chr17:48264009 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2263G>C (p.Gly755Arg) single nucleotide variant not provided [RCV001596924] Chr17:50190897 [GRCh38]
Chr17:48268258 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3055G>T (p.Gly1019Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000853622] Chr17:50188786 [GRCh38]
Chr17:48266147 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1767+177G>T single nucleotide variant not provided [RCV001565472] Chr17:50193766 [GRCh38]
Chr17:48271127 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815-7_3815-6insT insertion Osteogenesis imperfecta type I [RCV000978602] Chr17:50186513..50186514 [GRCh38]
Chr17:48263874..48263875 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+20CTGGGGC[2] microsatellite not provided [RCV001666655] Chr17:50199699..50199719 [GRCh38]
Chr17:48277060..48277080 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2021G>A (p.Gly674Glu) single nucleotide variant not provided [RCV000755938] Chr17:50191987 [GRCh38]
Chr17:48269348 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2669G>C (p.Gly890Ala) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV003314265] Chr17:50189537 [GRCh38]
Chr17:48266898 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.11:g.50188580_50188616del deletion Osteogenesis imperfecta type I [RCV000761564] Chr17:50188577..50188613 [GRCh38]
Chr17:48265938..48265974 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.607G>A (p.Gly203Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001065490] Chr17:50197984 [GRCh38]
Chr17:48275345 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1922G>T (p.Gly641Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001003413] Chr17:50192647 [GRCh38]
Chr17:48270008 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.71del (p.Glu24fs) deletion Osteogenesis imperfecta type I [RCV001065011] Chr17:50201443 [GRCh38]
Chr17:48278804 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3013T>C (p.Leu1005=) single nucleotide variant Cardiovascular phenotype [RCV002440808]|Osteogenesis imperfecta type I [RCV002072195]|not provided [RCV001569419] Chr17:50188935 [GRCh38]
Chr17:48266296 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2451+103T>G single nucleotide variant not provided [RCV001679993] Chr17:50190224 [GRCh38]
Chr17:48267585 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1670G>A (p.Gly557Asp) single nucleotide variant not provided [RCV003314942] Chr17:50194040 [GRCh38]
Chr17:48271401 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4005+4C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002569111]|not provided [RCV001584725] Chr17:50186313 [GRCh38]
Chr17:48263674 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2668-47G>T single nucleotide variant not provided [RCV001578057] Chr17:50189585 [GRCh38]
Chr17:48266946 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1843G>T (p.Glu615Ter) single nucleotide variant Osteogenesis imperfecta [RCV000991257] Chr17:50192829 [GRCh38]
Chr17:48270190 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2398-1G>A single nucleotide variant not provided [RCV001090961] Chr17:50190381 [GRCh38]
Chr17:48267742 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3423+128G>A single nucleotide variant not provided [RCV001645508] Chr17:50187356 [GRCh38]
Chr17:48264717 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.544-5T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003631168] Chr17:50198210 [GRCh38]
Chr17:48275571 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) single nucleotide variant Cardiovascular phenotype [RCV002354889]|Osteogenesis imperfecta type I [RCV001428697]|not provided [RCV000983956] Chr17:50185996 [GRCh38]
Chr17:48263357 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2937+8C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001437215] Chr17:50189160 [GRCh38]
Chr17:48266521 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.690A>G (p.Gly230=) single nucleotide variant COL1A1-related disorder [RCV004553458]|Cardiovascular phenotype [RCV002363482]|Osteogenesis imperfecta type I [RCV000966500] Chr17:50197738 [GRCh38]
Chr17:48275099 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1238G>A (p.Gly413Asp) single nucleotide variant not provided [RCV000755942] Chr17:50195293 [GRCh38]
Chr17:48272654 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) single nucleotide variant Cardiovascular phenotype [RCV002372646]|Osteogenesis imperfecta type I [RCV000945456] Chr17:50199304 [GRCh38]
Chr17:48276665 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3571C>G (p.Pro1191Ala) single nucleotide variant Cardiovascular phenotype [RCV004609561]|Osteogenesis imperfecta [RCV002279593]|Osteogenesis imperfecta type I [RCV000877669]|not provided [RCV001557980] Chr17:50186883 [GRCh38]
Chr17:48264244 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1018G>A (p.Ala340Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002540034]|not provided [RCV000878024] Chr17:50195961 [GRCh38]
Chr17:48273322 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1395G>A (p.Glu465=) single nucleotide variant Osteogenesis imperfecta type I [RCV001432323] Chr17:50194787 [GRCh38]
Chr17:48272148 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2973T>C (p.Ser991=) single nucleotide variant Cardiovascular phenotype [RCV002434119]|Ehlers-Danlos syndrome [RCV002279584]|Osteogenesis imperfecta type I [RCV001399218]|not provided [RCV000871447] Chr17:50188975 [GRCh38]
Chr17:48266336 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2982T>C (p.Arg994=) single nucleotide variant Osteogenesis imperfecta type I [RCV001471149] Chr17:50188966 [GRCh38]
Chr17:48266327 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.324C>T (p.Thr108=) single nucleotide variant Cardiovascular phenotype [RCV004994099]|Osteogenesis imperfecta type I [RCV001476818] Chr17:50199565 [GRCh38]
Chr17:48276926 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) single nucleotide variant Cardiovascular phenotype [RCV002361107]|Osteogenesis imperfecta type I [RCV001907566] Chr17:50186685 [GRCh38]
Chr17:48264046 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4321G>C (p.Asp1441His) single nucleotide variant Osteogenesis imperfecta type I [RCV001055118]|not provided [RCV004792685] Chr17:50185576 [GRCh38]
Chr17:48262937 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.103+5G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001037422] Chr17:50201406 [GRCh38]
Chr17:48278767 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.386del (p.Pro129fs) deletion Osteogenesis imperfecta type I [RCV000995512]|not provided [RCV003326528] Chr17:50199311 [GRCh38]
Chr17:48276672 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.276T>A (p.Cys92Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001042084] Chr17:50199775 [GRCh38]
Chr17:48277136 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3556C>G (p.Pro1186Ala) single nucleotide variant Cardiovascular phenotype [RCV004994175]|Ehlers-Danlos syndrome, arthrochalasia type [RCV002471007]|Osteogenesis imperfecta type I [RCV001307345]|not provided [RCV000996575] Chr17:50186898 [GRCh38]
Chr17:48264259 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.2048G>A (p.Gly683Asp) single nucleotide variant not provided [RCV000996576] Chr17:50191867 [GRCh38]
Chr17:48269228 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1718C>G (p.Ala573Gly) single nucleotide variant not provided [RCV000996577] Chr17:50193992 [GRCh38]
Chr17:48271353 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.833_834delinsTT (p.Gly278Val) indel Osteogenesis imperfecta type I [RCV001039464] Chr17:50196641..50196642 [GRCh38]
Chr17:48274002..48274003 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3451G>A (p.Gly1151Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001059157] Chr17:50187095 [GRCh38]
Chr17:48264456 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3531+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001052756] Chr17:50187010 [GRCh38]
Chr17:48264371 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1567_1569del (p.Pro523del) deletion Osteogenesis imperfecta type I [RCV001048881] Chr17:50194394..50194396 [GRCh38]
Chr17:48271755..48271757 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001051200] Chr17:50197178 [GRCh38]
Chr17:48274539 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2523del (p.Gly842fs) deletion COL1A1-related disorder [RCV004549862]|Osteogenesis imperfecta type I [RCV001066920]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV000789028] Chr17:50190037 [GRCh38]
Chr17:48267398 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001124580]|Infantile cortical hyperostosis [RCV001124579]|Osteogenesis imperfecta [RCV001125578]|Osteogenesis imperfecta type I [RCV001512876]|not specified [RCV004702498] Chr17:50191450 [GRCh38]
Chr17:48268811 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2069C>T (p.Pro690Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001455114]|not provided [RCV000981759] Chr17:50191846 [GRCh38]
Chr17:48269207 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.36C>T (p.Leu12=) single nucleotide variant Cardiovascular phenotype [RCV002354677]|Osteogenesis imperfecta type I [RCV002064716] Chr17:50201478 [GRCh38]
Chr17:48278839 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2166C>T (p.Gly722=) single nucleotide variant COL1A1-related disorder [RCV004549939]|Cardiovascular phenotype [RCV002427117]|Osteogenesis imperfecta type I [RCV000864692]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002501236]|not provided [RCV001310368] Chr17:50191452 [GRCh38]
Chr17:48268813 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1236T>C (p.Pro412=) single nucleotide variant COL1A1-related disorder [RCV004553372]|Cardiovascular phenotype [RCV002363442]|Osteogenesis imperfecta type I [RCV001410926] Chr17:50195295 [GRCh38]
Chr17:48272656 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4320C>T (p.Ile1440=) single nucleotide variant Cardiovascular phenotype [RCV002332829]|Osteogenesis imperfecta type I [RCV001401853]|not provided [RCV000872094] Chr17:50185577 [GRCh38]
Chr17:48262938 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3261+10C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002539988] Chr17:50188086 [GRCh38]
Chr17:48265447 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1405C>A (p.Arg469=) single nucleotide variant Cardiovascular phenotype [RCV002390866]|Osteogenesis imperfecta type I [RCV001463064] Chr17:50194777 [GRCh38]
Chr17:48272138 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) single nucleotide variant Cardiovascular phenotype [RCV002442860]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125401]|Infantile cortical hyperostosis [RCV001125399]|Osteogenesis imperfecta [RCV001125400]|Osteogenesis imperfecta type I [RCV000871482]|not provided [RCV001289259] Chr17:50187967 [GRCh38]
Chr17:48265328 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.805-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000984474] Chr17:50196671 [GRCh38]
Chr17:48274032 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1201-1G>A single nucleotide variant Osteogenesis imperfecta [RCV000984545]|Osteogenesis imperfecta type I [RCV001387572]|not provided [RCV001784481] Chr17:50195331 [GRCh38]
Chr17:48272692 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.376G>T (p.Ala126Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003631169]|not provided [RCV004800645] Chr17:50199321 [GRCh38]
Chr17:48276682 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3333T>C (p.Arg1111=) single nucleotide variant Cardiovascular phenotype [RCV002320169]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125398]|Infantile cortical hyperostosis [RCV001125397]|Osteogenesis imperfecta [RCV001125396]|Osteogenesis imperfecta type I [RCV000952091] Chr17:50187912 [GRCh38]
Chr17:48265273 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) deletion Osteogenesis imperfecta type I [RCV000786926] Chr17:50189886 [GRCh38]
Chr17:48267247 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp) single nucleotide variant COL1A1-related disorder [RCV004738003]|Cardiovascular phenotype [RCV004027358]|Ehlers-Danlos syndrome [RCV002279529]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001122287]|Infantile cortical hyperostosis [RCV001122288]|Osteogenesis imperfecta [RCV001122286]|Osteogenesis imperfecta type I [RCV000786920]|not provided [RCV001091447] Chr17:50201437 [GRCh38]
Chr17:48278798 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1631del (p.Pro544fs) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV003314335] Chr17:50194167 [GRCh38]
Chr17:48271528 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4376G>C (p.Gly1459Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000804378]|not provided [RCV001555680] Chr17:50185521 [GRCh38]
Chr17:48262882 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.643-36del deletion not provided [RCV000834475] Chr17:50197821 [GRCh38]
Chr17:48275182 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2452-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV000815634] Chr17:50190109 [GRCh38]
Chr17:48267470 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1192G>T (p.Gly398Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000822609] Chr17:50195442 [GRCh38]
Chr17:48272803 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1930-29_1930-18del deletion Osteogenesis imperfecta type I [RCV003631164]|not provided [RCV000840867] Chr17:50192546..50192557 [GRCh38]
Chr17:48269907..48269918 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) single nucleotide variant COL1A1-related disorder [RCV004549910]|Cardiovascular phenotype [RCV003307573]|Osteogenesis imperfecta type I [RCV001520549]|not provided [RCV000831174] Chr17:50186344 [GRCh38]
Chr17:48263705 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.903+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000800942] Chr17:50196482 [GRCh38]
Chr17:48273843 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3046-20CT[7] microsatellite Osteogenesis imperfecta type I [RCV000870503]|not provided [RCV001811526]|not specified [RCV001579895] Chr17:50188800..50188801 [GRCh38]
Chr17:48266161..48266162 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3046-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV000793255] Chr17:50188797 [GRCh38]
Chr17:48266158 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1002+52A>G single nucleotide variant not provided [RCV000834127] Chr17:50196103 [GRCh38]
Chr17:48273464 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1461+27G>A single nucleotide variant not provided [RCV000834128] Chr17:50194694 [GRCh38]
Chr17:48272055 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1669-31T>C single nucleotide variant not provided [RCV000834129]|not specified [RCV001000206] Chr17:50194072 [GRCh38]
Chr17:48271433 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1984-41G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593031]|Osteogenesis imperfecta type I [RCV001593030]|Osteogenesis imperfecta type III [RCV001593027]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593028]|Osteogenesis imperfecta, perinatal lethal [RCV001593029]|not provided [RCV000834130] Chr17:50192065 [GRCh38]
Chr17:48269426 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1000C>T (p.Pro334Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000802837] Chr17:50196157 [GRCh38]
Chr17:48273518 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.804+103G>A single nucleotide variant not provided [RCV000839590] Chr17:50196907 [GRCh38]
Chr17:48274268 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.260C>T (p.Pro87Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV000810189]|not provided [RCV003736908] Chr17:50199791 [GRCh38]
Chr17:48277152 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3846C>T (p.Cys1282=) single nucleotide variant Cardiovascular phenotype [RCV003166386]|Osteogenesis imperfecta type I [RCV000819407]|not provided [RCV001559377] Chr17:50186476 [GRCh38]
Chr17:48263837 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2333C>T (p.Pro778Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV000797307] Chr17:50190827 [GRCh38]
Chr17:48268188 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.588+33T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593056]|Osteogenesis imperfecta type I [RCV001593055]|Osteogenesis imperfecta type III [RCV001593052]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593053]|Osteogenesis imperfecta, perinatal lethal [RCV001593054]|not provided [RCV000834383] Chr17:50198128 [GRCh38]
Chr17:48275489 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.578dup (p.Gly194fs) duplication Osteogenesis imperfecta type I [RCV000803055]|not provided [RCV001008205] Chr17:50198170..50198171 [GRCh38]
Chr17:48275531..48275532 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3732C>T (p.Asn1244=) single nucleotide variant Cardiovascular phenotype [RCV004994066]|Osteogenesis imperfecta type I [RCV001466174]|not provided [RCV000842284] Chr17:50186722 [GRCh38]
Chr17:48264083 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2993G>C (p.Gly998Ala) single nucleotide variant Osteogenesis imperfecta [RCV000991248] Chr17:50188955 [GRCh38]
Chr17:48266316 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2452G>A (p.Gly818Ser) single nucleotide variant Osteogenesis imperfecta [RCV000991255]|Osteogenesis imperfecta type I [RCV001858505] Chr17:50190108 [GRCh38]
Chr17:48267469 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.617G>T (p.Gly206Val) single nucleotide variant Osteogenesis imperfecta [RCV000991258] Chr17:50197974 [GRCh38]
Chr17:48275335 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.697-30A>G single nucleotide variant not provided [RCV000834476] Chr17:50197263 [GRCh38]
Chr17:48274624 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.3:c.-161C>T single nucleotide variant not provided [RCV000834549] Chr17:48279035 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1273G>A (p.Gly425Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000801597]|Osteogenesis imperfecta type III [RCV001788353]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004796318]|not provided [RCV001575653] Chr17:50195258 [GRCh38]
Chr17:48272619 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.823G>T (p.Gly275Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV000824299] Chr17:50196652 [GRCh38]
Chr17:48274013 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4081G>T (p.Glu1361Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000818221] Chr17:50185945 [GRCh38]
Chr17:48263306 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2107C>G (p.Pro703Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV000814870] Chr17:50191808 [GRCh38]
Chr17:48269169 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.472-297G>A single nucleotide variant not provided [RCV000843512] Chr17:50198801 [GRCh38]
Chr17:48276162 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3100-10T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000800268] Chr17:50188647 [GRCh38]
Chr17:48266008 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) single nucleotide variant COL1A1-related disorder [RCV004549914]|Cardiovascular phenotype [RCV002372383]|Osteogenesis imperfecta type I [RCV001514912]|not provided [RCV000843852]|not specified [RCV004997397] Chr17:50186329 [GRCh38]
Chr17:48263690 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2915del (p.Phe972fs) deletion Osteogenesis imperfecta type I [RCV000989944] Chr17:50189190 [GRCh38]
Chr17:48266551 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.958-1G>C single nucleotide variant Osteogenesis imperfecta [RCV002279683]|Osteogenesis imperfecta type I [RCV000989948] Chr17:50196200 [GRCh38]
Chr17:48273561 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2253del (p.Gly752fs) deletion Osteogenesis imperfecta type I [RCV000808139] Chr17:50190907 [GRCh38]
Chr17:48268268 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1138G>A (p.Gly380Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000792555]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002470982] Chr17:50195584 [GRCh38]
Chr17:48272945 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2830-43C>T single nucleotide variant not provided [RCV000833598] Chr17:50189318 [GRCh38]
Chr17:48266679 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1037del (p.Pro346fs) deletion not provided [RCV000991591] Chr17:50195942 [GRCh38]
Chr17:48273303 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1822-57G>A single nucleotide variant not provided [RCV000835386] Chr17:50192907 [GRCh38]
Chr17:48270268 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2667+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000805862]|not provided [RCV003456436] Chr17:50189678 [GRCh38]
Chr17:48267039 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3183C>T (p.Gly1061=) single nucleotide variant Osteogenesis imperfecta type I [RCV000793107] Chr17:50188554 [GRCh38]
Chr17:48265915 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) single nucleotide variant Cardiovascular phenotype [RCV002390684]|Ehlers-Danlos syndrome [RCV002279549]|Osteogenesis imperfecta [RCV002279548]|Osteogenesis imperfecta type I [RCV000819589]|not provided [RCV001531431] Chr17:50199907 [GRCh38]
Chr17:48277268 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.2028+39C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593036]|Osteogenesis imperfecta type I [RCV001593035]|Osteogenesis imperfecta type III [RCV001593032]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593033]|Osteogenesis imperfecta, perinatal lethal [RCV001593034]|not provided [RCV000834131] Chr17:50191941 [GRCh38]
Chr17:48269302 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2235+118T>C single nucleotide variant not provided [RCV000834132] Chr17:50191265 [GRCh38]
Chr17:48268626 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2830-33C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593041]|Osteogenesis imperfecta type I [RCV001593040]|Osteogenesis imperfecta type III [RCV001593037]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593038]|Osteogenesis imperfecta, perinatal lethal [RCV001593039]|not provided [RCV000834133] Chr17:50189308 [GRCh38]
Chr17:48266669 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3261+31T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593046]|Osteogenesis imperfecta type I [RCV001593045]|Osteogenesis imperfecta type III [RCV001593042]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593043]|Osteogenesis imperfecta, perinatal lethal [RCV001593044]|not provided [RCV000834134] Chr17:50188065 [GRCh38]
Chr17:48265426 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.4040A>G (p.Asp1347Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV000803370] Chr17:50185986 [GRCh38]
Chr17:48263347 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) single nucleotide variant COL1A1-related disorder [RCV004549897]|Cardiovascular phenotype [RCV002332698]|Osteogenesis imperfecta type I [RCV000819846]|not provided [RCV003482319] Chr17:50185858 [GRCh38]
Chr17:48263219 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.436C>A (p.Pro146Thr) single nucleotide variant Cardiovascular phenotype [RCV004994006]|Osteogenesis imperfecta type I [RCV001370161]|not provided [RCV000788756] Chr17:50199261 [GRCh38]
Chr17:48276622 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3300C>T (p.Gly1100=) single nucleotide variant not provided [RCV000788966]|not specified [RCV004702417] Chr17:50187945 [GRCh38]
Chr17:48265306 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.588+72A>G single nucleotide variant not provided [RCV000834473] Chr17:50198089 [GRCh38]
Chr17:48275450 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.643-81C>T single nucleotide variant not provided [RCV000834474] Chr17:50197866 [GRCh38]
Chr17:48275227 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.471+32C>T single nucleotide variant not provided [RCV000834529] Chr17:50199194 [GRCh38]
Chr17:48276555 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.120C>A (p.Cys40Ter) single nucleotide variant COL1A1-related disorder [RCV004723173]|Osteogenesis imperfecta [RCV000790420]|Osteogenesis imperfecta type I [RCV003631162] Chr17:50199931 [GRCh38]
Chr17:48277292 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.799_802del (p.His267fs) deletion Osteogenesis imperfecta type I [RCV000820173] Chr17:50197012..50197015 [GRCh38]
Chr17:48274373..48274376 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1875+41G>C single nucleotide variant not provided [RCV000838666] Chr17:50192756 [GRCh38]
Chr17:48270117 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.661G>A (p.Gly221Ser) single nucleotide variant Cardiovascular phenotype [RCV002363171]|Osteogenesis imperfecta type I [RCV000822915]|not provided [RCV004720014] Chr17:50197767 [GRCh38]
Chr17:48275128 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1614+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000813208] Chr17:50194347 [GRCh38]
Chr17:48271708 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2127+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000817116] Chr17:50191787 [GRCh38]
Chr17:48269148 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3424-43C>T single nucleotide variant not provided [RCV000835401] Chr17:50187165 [GRCh38]
Chr17:48264526 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1821+1G>C single nucleotide variant Osteogenesis imperfecta [RCV000991250]|Osteogenesis imperfecta type I [RCV000804013] Chr17:50192993 [GRCh38]
Chr17:48270354 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2717dup (p.Lys907fs) duplication Osteogenesis imperfecta type I [RCV000793975] Chr17:50189488..50189489 [GRCh38]
Chr17:48266849..48266850 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1865_1866delinsG (p.Pro622fs) indel Osteogenesis imperfecta type I [RCV000797164] Chr17:50192806..50192807 [GRCh38]
Chr17:48270167..48270168 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.3:c.299-9G>T single nucleotide variant not provided [RCV000842159] Chr17:48276960 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1002+8T>C single nucleotide variant not provided [RCV000842168] Chr17:50196147 [GRCh38]
Chr17:48273508 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3820_3821dup (p.Trp1275fs) duplication Osteogenesis imperfecta type I [RCV000797587] Chr17:50186500..50186501 [GRCh38]
Chr17:48263861..48263862 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.334-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000823839] Chr17:50199454 [GRCh38]
Chr17:48276815 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3208-127T>C single nucleotide variant not provided [RCV000839770] Chr17:50188276 [GRCh38]
Chr17:48265637 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.471+44T>C single nucleotide variant not provided [RCV000840144] Chr17:50199182 [GRCh38]
Chr17:48276543 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3261+2dup duplication Osteogenesis imperfecta type I [RCV000824325] Chr17:50188093..50188094 [GRCh38]
Chr17:48265454..48265455 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000818600] Chr17:50193032 [GRCh38]
Chr17:48270393 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.308C>T (p.Thr103Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV000792473] Chr17:50199581 [GRCh38]
Chr17:48276942 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.427C>T (p.Pro143Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000798625]|not provided [RCV001797144] Chr17:50199270 [GRCh38]
Chr17:48276631 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.779G>T (p.Gly260Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000822219] Chr17:50197035 [GRCh38]
Chr17:48274396 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2667+1G>C single nucleotide variant Osteogenesis imperfecta [RCV000991246] Chr17:50189678 [GRCh38]
Chr17:48267039 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1001del (p.Pro334fs) deletion Osteogenesis imperfecta [RCV000991249]|Osteogenesis imperfecta type I [RCV002226428] Chr17:50196156 [GRCh38]
Chr17:48273517 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3182G>C (p.Gly1061Ala) single nucleotide variant Osteogenesis imperfecta [RCV000991251] Chr17:50188555 [GRCh38]
Chr17:48265916 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1492del (p.Ala498fs) deletion Osteogenesis imperfecta [RCV000991253] Chr17:50194596 [GRCh38]
Chr17:48271957 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg) single nucleotide variant Cardiovascular phenotype [RCV004028845]|Osteogenesis imperfecta type I [RCV000815235]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005021240]|not provided [RCV004693361] Chr17:50199926 [GRCh38]
Chr17:48277287 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000815255]|not provided [RCV001289261]|not specified [RCV002469297] Chr17:50186480 [GRCh38]
Chr17:48263841 [GRCh37]
Chr17:17q21.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.3:c.1002+10G>T single nucleotide variant not provided [RCV000841032] Chr17:48273506 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2215C>G (p.Pro739Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001007586] Chr17:50191403 [GRCh38]
Chr17:48268764 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3496G>A (p.Gly1166Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000811744] Chr17:50187050 [GRCh38]
Chr17:48264411 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2452-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001067208]|not provided [RCV003325541] Chr17:50190109 [GRCh38]
Chr17:48267470 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV000793784] Chr17:50196481 [GRCh38]
Chr17:48273842 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1984-6C>A single nucleotide variant Osteogenesis imperfecta type I [RCV001862685]|not provided [RCV001090962] Chr17:50192030 [GRCh38]
Chr17:48269391 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3802G>A (p.Asp1268Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV000793951] Chr17:50186652 [GRCh38]
Chr17:48264013 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) single nucleotide variant Cardiovascular phenotype [RCV002320336]|Osteogenesis imperfecta type I [RCV001066956] Chr17:50188561 [GRCh38]
Chr17:48265922 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2990del (p.Pro997fs) deletion COL1A1-related disorder [RCV004553530]|Osteogenesis imperfecta type I [RCV000989943] Chr17:50188958 [GRCh38]
Chr17:48266319 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.938del (p.Pro313fs) deletion Osteogenesis imperfecta type I [RCV000989949] Chr17:50196333 [GRCh38]
Chr17:48273694 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3494del (p.Pro1165fs) deletion Osteogenesis imperfecta type I [RCV000991296]|not provided [RCV000991596] Chr17:50187052 [GRCh38]
Chr17:48264413 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1127del (p.Pro376fs) deletion Osteogenesis imperfecta type I [RCV001065365]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003326535]|not provided [RCV001585970] Chr17:50195595 [GRCh38]
Chr17:48272956 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.299-1G>A single nucleotide variant not provided [RCV000991595] Chr17:50199591 [GRCh38]
Chr17:48276952 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50186505_50186509del deletion Osteogenesis imperfecta type I [RCV000810522] Chr17:50186503..50186507 [GRCh38]
Chr17:48263864..48263868 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.103+265G>A single nucleotide variant not provided [RCV000843483] Chr17:50201146 [GRCh38]
Chr17:48278507 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.471+335T>C single nucleotide variant not provided [RCV000843503] Chr17:50198891 [GRCh38]
Chr17:48276252 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.441_458del (p.143PPG[2]) deletion Cardiovascular phenotype [RCV004027979]|Osteogenesis imperfecta type I [RCV000799052] Chr17:50199239..50199256 [GRCh38]
Chr17:48276600..48276617 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3815-8T>A single nucleotide variant Osteogenesis imperfecta type I [RCV000978603] Chr17:50186515 [GRCh38]
Chr17:48263876 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1261C>T (p.Gln421Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000822393] Chr17:50195270 [GRCh38]
Chr17:48272631 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.903+29G>T single nucleotide variant not provided [RCV000840979] Chr17:50196455 [GRCh38]
Chr17:48273816 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.910C>T (p.Arg304Cys) single nucleotide variant not provided [RCV000788464] Chr17:50196361 [GRCh38]
Chr17:48273722 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3815-35T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001593051]|Osteogenesis imperfecta type I [RCV001593050]|Osteogenesis imperfecta type III [RCV001593047]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001593048]|Osteogenesis imperfecta, perinatal lethal [RCV001593049]|not provided [RCV000834135] Chr17:50186542 [GRCh38]
Chr17:48263903 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2450dup (p.Gly818fs) duplication Osteogenesis imperfecta type I [RCV000808112] Chr17:50190327..50190328 [GRCh38]
Chr17:48267688..48267689 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.804+62A>G single nucleotide variant not provided [RCV000834305] Chr17:50196948 [GRCh38]
Chr17:48274309 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.804+80A>C single nucleotide variant not provided [RCV000834306] Chr17:50196930 [GRCh38]
Chr17:48274291 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1002+77A>G single nucleotide variant not provided [RCV000834307] Chr17:50196078 [GRCh38]
Chr17:48273439 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.299-3T>G single nucleotide variant Osteogenesis imperfecta type I [RCV000794621] Chr17:50199593 [GRCh38]
Chr17:48276954 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3369+62C>T single nucleotide variant not provided [RCV000834543] Chr17:50187814 [GRCh38]
Chr17:48265175 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3002del (p.Gly1001fs) deletion Ehlers-Danlos syndrome, arthrochalasia type [RCV001824161]|Osteogenesis imperfecta type I [RCV000799850] Chr17:50188946 [GRCh38]
Chr17:48266307 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.441del (p.Gly148fs) deletion Osteogenesis imperfecta type I [RCV000816871]|not provided [RCV000991597] Chr17:50199256 [GRCh38]
Chr17:48276617 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1984-43G>C single nucleotide variant not provided [RCV000838667] Chr17:50192067 [GRCh38]
Chr17:48269428 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.3:c.3815-12G>T single nucleotide variant not provided [RCV000827217] Chr17:48263880 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.458del (p.Pro153fs) deletion Osteogenesis imperfecta type I [RCV000814019] Chr17:50199239 [GRCh38]
Chr17:48276600 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4066C>A (p.Arg1356Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV000817261] Chr17:50185960 [GRCh38]
Chr17:48263321 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3114dup (p.Thr1039fs) duplication Osteogenesis imperfecta type I [RCV000820796] Chr17:50188622..50188623 [GRCh38]
Chr17:48265983..48265984 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1768-60C>T single nucleotide variant not provided [RCV000839272] Chr17:50193107 [GRCh38]
Chr17:48270468 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1354-52G>C single nucleotide variant not provided [RCV000839591] Chr17:50194880 [GRCh38]
Chr17:48272241 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2984G>C (p.Gly995Ala) single nucleotide variant Osteogenesis imperfecta [RCV000991247] Chr17:50188964 [GRCh38]
Chr17:48266325 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1516-1G>C single nucleotide variant Osteogenesis imperfecta [RCV000991256]|not provided [RCV003229868] Chr17:50194448 [GRCh38]
Chr17:48271809 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1840G>T (p.Gly614Ter) single nucleotide variant not provided [RCV001090963] Chr17:50192832 [GRCh38]
Chr17:48270193 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.63C>T (p.His21=) single nucleotide variant Cardiovascular phenotype [RCV002363411]|Osteogenesis imperfecta type I [RCV002068688] Chr17:50201451 [GRCh38]
Chr17:48278812 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2883C>T (p.Val961=) single nucleotide variant Cardiovascular phenotype [RCV004028416]|Osteogenesis imperfecta type I [RCV002065580]|not provided [RCV000892117] Chr17:50189222 [GRCh38]
Chr17:48266583 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4171C>T (p.Gln1391Ter) single nucleotide variant Osteogenesis imperfecta [RCV000991252] Chr17:50185855 [GRCh38]
Chr17:48263216 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.733G>T (p.Gly245Trp) single nucleotide variant Osteogenesis imperfecta [RCV000991254] Chr17:50197197 [GRCh38]
Chr17:48274558 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2673dup (p.Ala892fs) duplication Osteogenesis imperfecta type I [RCV001044134] Chr17:50189532..50189533 [GRCh38]
Chr17:48266893..48266894 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2945C>T (p.Pro982Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001202307] Chr17:50189003 [GRCh38]
Chr17:48266364 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val) single nucleotide variant Osteogenesis imperfecta type I [RCV000989950] Chr17:50197205 [GRCh38]
Chr17:48274566 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1382G>C (p.Gly461Ala) single nucleotide variant not provided [RCV003656153] Chr17:50194800 [GRCh38]
Chr17:48272161 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1044del (p.Val349fs) deletion not provided [RCV001008298] Chr17:50195935 [GRCh38]
Chr17:48273296 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1713_1720del (p.Gly572fs) deletion Osteogenesis imperfecta type I [RCV001201519] Chr17:50193990..50193997 [GRCh38]
Chr17:48271351..48271358 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1675G>A (p.Ala559Thr) single nucleotide variant Osteogenesis imperfecta [RCV002276664]|Osteogenesis imperfecta type I [RCV001219681]|not provided [RCV001587241] Chr17:50194035 [GRCh38]
Chr17:48271396 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3749del (p.Gly1250fs) deletion Osteogenesis imperfecta type I [RCV001222058] Chr17:50186705 [GRCh38]
Chr17:48264066 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2291G>C (p.Gly764Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001226870] Chr17:50190869 [GRCh38]
Chr17:48268230 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.287C>T (p.Pro96Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001210575]|not provided [RCV003317451] Chr17:50199764 [GRCh38]
Chr17:48277125 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.510del (p.Lys170fs) deletion Osteogenesis imperfecta type I [RCV001203335] Chr17:50198466 [GRCh38]
Chr17:48275827 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1335_1336del (p.Gly446fs) deletion Osteogenesis imperfecta type I [RCV001237416] Chr17:50195064..50195065 [GRCh38]
Chr17:48272425..48272426 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2357C>T (p.Pro786Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001237205] Chr17:50190583 [GRCh38]
Chr17:48267944 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4247C>T (p.Thr1416Met) single nucleotide variant Osteogenesis imperfecta type I [RCV001220663] Chr17:50185779 [GRCh38]
Chr17:48263140 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3649C>T (p.Arg1217Trp) single nucleotide variant Osteogenesis imperfecta type I [RCV001242997] Chr17:50186805 [GRCh38]
Chr17:48264166 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4067G>A (p.Arg1356His) single nucleotide variant Infantile cortical hyperostosis [RCV001824937]|Osteogenesis imperfecta type I [RCV001220548]|not provided [RCV001773496] Chr17:50185959 [GRCh38]
Chr17:48263320 [GRCh37]
Chr17:17q21.33		 uncertain significance|not provided
NM_000088.4(COL1A1):c.4237G>A (p.Asp1413Asn) single nucleotide variant COL1A1-related disorder [RCV004548075]|Osteogenesis imperfecta [RCV004782670]|Osteogenesis imperfecta type I [RCV001220617] Chr17:50185789 [GRCh38]
Chr17:48263150 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.35T>C (p.Leu12Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001223346] Chr17:50201479 [GRCh38]
Chr17:48278840 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3824G>A (p.Trp1275Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001237624] Chr17:50186498 [GRCh38]
Chr17:48263859 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.433G>A (p.Gly145Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001234861]|not provided [RCV002286828] Chr17:50199264 [GRCh38]
Chr17:48276625 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3100-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001225334]|not provided [RCV004590248] Chr17:50188638 [GRCh38]
Chr17:48265999 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4014del (p.Glu1337_Tyr1338insTer) deletion Osteogenesis imperfecta type I [RCV001225371] Chr17:50186012 [GRCh38]
Chr17:48263373 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50192025del deletion Osteogenesis imperfecta type I [RCV001232264] Chr17:50192023 [GRCh38]
Chr17:48269384 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2830-3A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001218519] Chr17:50189278 [GRCh38]
Chr17:48266639 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.23G>A (p.Arg8Gln) single nucleotide variant Cardiovascular phenotype [RCV004032425]|Osteogenesis imperfecta type I [RCV001221789] Chr17:50201491 [GRCh38]
Chr17:48278852 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3421del (p.Arg1141fs) deletion Osteogenesis imperfecta [RCV000991259] Chr17:50187486 [GRCh38]
Chr17:48264847 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4248+1G>A single nucleotide variant Osteogenesis imperfecta [RCV000991260] Chr17:50185777 [GRCh38]
Chr17:48263138 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3045+11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002559266]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198572] Chr17:50188892 [GRCh38]
Chr17:48266253 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) single nucleotide variant Cardiovascular phenotype [RCV003163610]|Osteogenesis imperfecta type I [RCV001212241]|not provided [RCV001508814] Chr17:50185576 [GRCh38]
Chr17:48262937 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.4321G>T (p.Asp1441Tyr) single nucleotide variant COL1A1-related disorder [RCV004548076]|Osteogenesis imperfecta type I [RCV001225554] Chr17:50185576 [GRCh38]
Chr17:48262937 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3532-12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002560218]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001196192]|See cases [RCV002222199] Chr17:50186934 [GRCh38]
Chr17:48264295 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1270G>A (p.Gly424Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001207893]|not provided [RCV001310369] Chr17:50195261 [GRCh38]
Chr17:48272622 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.543+5G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001219274] Chr17:50198428 [GRCh38]
Chr17:48275789 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.385C>T (p.Pro129Ser) single nucleotide variant Infantile cortical hyperostosis [RCV001249321]|Infantile cortical hyperostosis [RCV001535735]|Osteogenesis imperfecta type I [RCV001341233]|not provided [RCV001562496] Chr17:50199312 [GRCh38]
Chr17:48276673 [GRCh37]
Chr17:17q21.33		 uncertain significance|not provided
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter) single nucleotide variant Osteogenesis imperfecta [RCV000853536]|Osteogenesis imperfecta type I [RCV003631165] Chr17:50186319 [GRCh38]
Chr17:48263680 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4201G>A (p.Glu1401Lys) single nucleotide variant not provided [RCV003480253] Chr17:50185825 [GRCh38]
Chr17:48263186 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1906C>T (p.Pro636Ser) single nucleotide variant not provided [RCV003480254] Chr17:50192663 [GRCh38]
Chr17:48270024 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1875+3G>T single nucleotide variant Cardiovascular phenotype [RCV002409320]|Osteogenesis imperfecta type I [RCV000989946]|not provided [RCV001726407] Chr17:50192794 [GRCh38]
Chr17:48270155 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.*16A>G single nucleotide variant not provided [RCV000991590] Chr17:50185486 [GRCh38]
Chr17:48262847 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1601del (p.Leu534fs) deletion not provided [RCV000991592] Chr17:50194362 [GRCh38]
Chr17:48271723 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1884del (p.Gly629fs) deletion not provided [RCV000991593] Chr17:50192685 [GRCh38]
Chr17:48270046 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.677del (p.Pro226fs) deletion not provided [RCV000991599] Chr17:50197751 [GRCh38]
Chr17:48275112 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3650G>C (p.Arg1217Pro) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV001196689] Chr17:50186804 [GRCh38]
Chr17:48264165 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2539G>T (p.Ala847Ser) single nucleotide variant Osteogenesis imperfecta [RCV002276659]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198871] Chr17:50190021 [GRCh38]
Chr17:48267382 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1615-14C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001121987]|Infantile cortical hyperostosis [RCV001127771]|Osteogenesis imperfecta [RCV001127770]|Osteogenesis imperfecta type I [RCV002069980] Chr17:50194197 [GRCh38]
Chr17:48271558 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.804+15A>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001127946]|Infantile cortical hyperostosis [RCV001127947]|Osteogenesis imperfecta [RCV001127948] Chr17:50196995 [GRCh38]
Chr17:48274356 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.998C>T (p.Pro333Leu) single nucleotide variant not provided [RCV001091445] Chr17:50196159 [GRCh38]
Chr17:48273520 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1027G>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001128601]|Infantile cortical hyperostosis [RCV001128602]|Osteogenesis imperfecta [RCV001128603]|not provided [RCV001779120] Chr17:50184475 [GRCh38]
Chr17:48261836 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1316C>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001122798]|Infantile cortical hyperostosis [RCV001122797]|Osteogenesis imperfecta [RCV001122796] Chr17:50184186 [GRCh38]
Chr17:48261547 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1011T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001122904]|Infantile cortical hyperostosis [RCV001122905]|Osteogenesis imperfecta [RCV001128604]|not provided [RCV001615120] Chr17:50184491 [GRCh38]
Chr17:48261852 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.*88T>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001123094]|Infantile cortical hyperostosis [RCV001123095]|Osteogenesis imperfecta [RCV001123096]|not provided [RCV004706024] Chr17:50185414 [GRCh38]
Chr17:48262775 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2424C>T (p.Pro808=) single nucleotide variant Cardiovascular phenotype [RCV002451332]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001123491]|Infantile cortical hyperostosis [RCV001123492]|Osteogenesis imperfecta [RCV001123493]|Osteogenesis imperfecta type I [RCV001494295]|not provided [RCV003736990] Chr17:50190354 [GRCh38]
Chr17:48267715 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1088G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126542]|Infantile cortical hyperostosis [RCV001126541]|Osteogenesis imperfecta [RCV001128600]|not provided [RCV002221609] Chr17:50184414 [GRCh38]
Chr17:48261775 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2490del (p.Asp831fs) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV001198335] Chr17:50190070 [GRCh38]
Chr17:48267431 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4234G>A (p.Val1412Ile) single nucleotide variant not provided [RCV004777183] Chr17:50185792 [GRCh38]
Chr17:48263153 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+1G>A single nucleotide variant not provided [RCV003233157] Chr17:50197179 [GRCh38]
Chr17:48274540 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3182G>T (p.Gly1061Val) single nucleotide variant Osteogenesis imperfecta [RCV003128180] Chr17:50188555 [GRCh38]
Chr17:48265916 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3369+28C>T single nucleotide variant not provided [RCV001549416] Chr17:50187848 [GRCh38]
Chr17:48265209 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2715del (p.Gly906fs) deletion not provided [RCV001550504] Chr17:50189491 [GRCh38]
Chr17:48266852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2519C>T (p.Pro840Leu) single nucleotide variant Cardiovascular phenotype [RCV004039550]|Osteogenesis imperfecta type I [RCV001873827]|not provided [RCV001665197] Chr17:50190041 [GRCh38]
Chr17:48267402 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.358del (p.Arg120fs) deletion not provided [RCV001576701] Chr17:50199429 [GRCh38]
Chr17:48276790 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.578del (p.Pro193fs) deletion Osteogenesis imperfecta type I [RCV002032566]|not provided [RCV001547132] Chr17:50198171 [GRCh38]
Chr17:48275532 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1252del (p.Ser418fs) deletion not provided [RCV001577821] Chr17:50195279 [GRCh38]
Chr17:48272640 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2756del (p.Pro919fs) deletion Osteogenesis imperfecta type I [RCV001866076]|not provided [RCV001577855] Chr17:50189450 [GRCh38]
Chr17:48266811 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) single nucleotide variant Cardiovascular phenotype [RCV004995952]|Osteogenesis imperfecta type I [RCV002569095]|not provided [RCV001577889] Chr17:50199918 [GRCh38]
Chr17:48277279 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2613+29C>T single nucleotide variant not provided [RCV001559996] Chr17:50189830 [GRCh38]
Chr17:48267191 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.859-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002032603]|not provided [RCV001554895] Chr17:50196529 [GRCh38]
Chr17:48273890 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1200+1del deletion Osteogenesis imperfecta, perinatal lethal [RCV001542692] Chr17:50195433 [GRCh38]
Chr17:48272794 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1876-44C>T single nucleotide variant not provided [RCV001638900] Chr17:50192737 [GRCh38]
Chr17:48270098 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2030G>A (p.Gly677Asp) single nucleotide variant not provided [RCV001596891] Chr17:50191885 [GRCh38]
Chr17:48269246 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1694C>T (p.Pro565Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001859393]|not provided [RCV001561842] Chr17:50194016 [GRCh38]
Chr17:48271377 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2343+34C>A single nucleotide variant COL1A1-related disorder [RCV004551985]|not provided [RCV001710006] Chr17:50190783 [GRCh38]
Chr17:48268144 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2100C>T (p.Asn700=) single nucleotide variant Cardiovascular phenotype [RCV002421198]|Osteogenesis imperfecta type I [RCV002568417]|not provided [RCV001562674] Chr17:50191815 [GRCh38]
Chr17:48269176 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.104-2A>T single nucleotide variant not provided [RCV001581606] Chr17:50199949 [GRCh38]
Chr17:48277310 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2236-56C>T single nucleotide variant not provided [RCV001714729] Chr17:50190980 [GRCh38]
Chr17:48268341 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.*1026dup duplication not provided [RCV001665566] Chr17:50184475..50184476 [GRCh38]
Chr17:48261836..48261837 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2810del (p.Pro937fs) deletion not provided [RCV001587903] Chr17:50189396 [GRCh38]
Chr17:48266757 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1002+3G>T single nucleotide variant not provided [RCV001590009] Chr17:50196152 [GRCh38]
Chr17:48273513 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4188C>T (p.Ile1396=) single nucleotide variant Cardiovascular phenotype [RCV002332850]|Osteogenesis imperfecta type I [RCV001477269] Chr17:50185838 [GRCh38]
Chr17:48263199 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+7C>A single nucleotide variant Osteogenesis imperfecta type I [RCV001400628] Chr17:50195916 [GRCh38]
Chr17:48273277 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.957+10C>A single nucleotide variant Ehlers-Danlos syndrome [RCV002279586]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125834]|Infantile cortical hyperostosis [RCV001125835]|Osteogenesis imperfecta [RCV001125833]|Osteogenesis imperfecta type I [RCV000873226] Chr17:50196304 [GRCh38]
Chr17:48273665 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1557C>T (p.Pro519=) single nucleotide variant Osteogenesis imperfecta type I [RCV001485113] Chr17:50194406 [GRCh38]
Chr17:48271767 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4197C>T (p.Arg1399=) single nucleotide variant Cardiovascular phenotype [RCV002327192]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127263]|Infantile cortical hyperostosis [RCV001127264]|Osteogenesis imperfecta [RCV001127265]|Osteogenesis imperfecta type I [RCV000960716] Chr17:50185829 [GRCh38]
Chr17:48263190 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2667+9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001461347] Chr17:50189670 [GRCh38]
Chr17:48267031 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) single nucleotide variant COL1A1-related disorder [RCV004553407]|Cardiovascular phenotype [RCV002336998]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001124962]|Infantile cortical hyperostosis [RCV001125938]|Osteogenesis imperfecta [RCV001125939]|Osteogenesis imperfecta type I [RCV001514154]|not provided [RCV000951771] Chr17:50199235 [GRCh38]
Chr17:48276596 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.3588C>T (p.Phe1196=) single nucleotide variant Cardiovascular phenotype [RCV002460119]|Osteogenesis imperfecta type I [RCV003517281] Chr17:50186866 [GRCh38]
Chr17:48264227 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4176C>T (p.Gly1392=) single nucleotide variant Osteogenesis imperfecta type I [RCV001423851]|not provided [RCV000936834] Chr17:50185850 [GRCh38]
Chr17:48263211 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.45C>T (p.Ala15=) single nucleotide variant COL1A1-related disorder [RCV004553451]|Cardiovascular phenotype [RCV002337006]|Osteogenesis imperfecta type I [RCV001464410] Chr17:50201469 [GRCh38]
Chr17:48278830 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4314C>T (p.Pro1438=) single nucleotide variant not provided [RCV000952409] Chr17:50185583 [GRCh38]
Chr17:48262944 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3246C>T (p.Gly1082=) single nucleotide variant COL1A1-related disorder [RCV004553379]|Cardiovascular phenotype [RCV002320159]|Osteogenesis imperfecta type I [RCV001455510] Chr17:50188111 [GRCh38]
Chr17:48265472 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1353+10C>T single nucleotide variant not provided [RCV000976009] Chr17:50195037 [GRCh38]
Chr17:48272398 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.168G>A (p.Glu56=) single nucleotide variant Cardiovascular phenotype [RCV002409271]|Osteogenesis imperfecta type I [RCV000953944] Chr17:50199883 [GRCh38]
Chr17:48277244 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1443C>G (p.Pro481=) single nucleotide variant Osteogenesis imperfecta type I [RCV001409555]|not provided [RCV000938435] Chr17:50194739 [GRCh38]
Chr17:48272100 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.855T>C (p.Pro285=) single nucleotide variant Osteogenesis imperfecta type I [RCV001499307] Chr17:50196620 [GRCh38]
Chr17:48273981 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1876-10C>T single nucleotide variant Ehlers-Danlos syndrome [RCV002279663]|Osteogenesis imperfecta type I [RCV000952653]|not provided [RCV001593147] Chr17:50192703 [GRCh38]
Chr17:48270064 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3100-5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001443939]|not provided [RCV000876691] Chr17:50188642 [GRCh38]
Chr17:48266003 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.-98G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126042]|Infantile cortical hyperostosis [RCV001126040]|Osteogenesis imperfecta [RCV001126041]|not provided [RCV003145355] Chr17:50201611 [GRCh38]
Chr17:48278972 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1348G>C (p.Glu450Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV001207280]|not provided [RCV004792794] Chr17:50195052 [GRCh38]
Chr17:48272413 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2236-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001229866] Chr17:50190925 [GRCh38]
Chr17:48268286 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1454G>C (p.Gly485Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001071028] Chr17:50194728 [GRCh38]
Chr17:48272089 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4320C>G (p.Ile1440Met) single nucleotide variant Osteogenesis imperfecta type I [RCV001225999] Chr17:50185577 [GRCh38]
Chr17:48262938 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.572G>T (p.Gly191Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001089659] Chr17:50198177 [GRCh38]
Chr17:48275538 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2404C>T (p.Arg802Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001222978]|not provided [RCV001773501] Chr17:50190374 [GRCh38]
Chr17:48267735 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*502C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001123017]|Infantile cortical hyperostosis [RCV001123018]|Osteogenesis imperfecta [RCV001123019] Chr17:50185000 [GRCh38]
Chr17:48262361 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.347A>G (p.Asp116Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV001223945]|not provided [RCV002245879] Chr17:50199440 [GRCh38]
Chr17:48276801 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4163T>C (p.Leu1388Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001044363] Chr17:50185863 [GRCh38]
Chr17:48263224 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.143A>G (p.His48Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001069144] Chr17:50199908 [GRCh38]
Chr17:48277269 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2182G>T (p.Gly728Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001175159] Chr17:50191436 [GRCh38]
Chr17:48268797 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3817G>T (p.Glu1273Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001206187]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001330772] Chr17:50186505 [GRCh38]
Chr17:48263866 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2128-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001048044] Chr17:50191491 [GRCh38]
Chr17:48268852 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.(?_50185482)_(50192870_?)del deletion Osteogenesis imperfecta type I [RCV001031346] Chr17:48262843..48270231 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2935del (p.Ser979fs) deletion Osteogenesis imperfecta type I [RCV001209715] Chr17:50189170 [GRCh38]
Chr17:48266531 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3399del (p.Ala1134fs) deletion Osteogenesis imperfecta type I [RCV001225058] Chr17:50187508 [GRCh38]
Chr17:48264869 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1763C>A (p.Ala588Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001225681] Chr17:50193947 [GRCh38]
Chr17:48271308 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1042_1043dup (p.Val349fs) duplication Osteogenesis imperfecta type I [RCV001228084] Chr17:50195935..50195936 [GRCh38]
Chr17:48273296..48273297 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.334-6C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001455151] Chr17:50199459 [GRCh38]
Chr17:48276820 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.978T>C (p.Gly326=) single nucleotide variant not provided [RCV000890834] Chr17:50196179 [GRCh38]
Chr17:48273540 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1984-13C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002072226]|not provided [RCV001571913] Chr17:50192037 [GRCh38]
Chr17:48269398 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1920del (p.Gly641fs) deletion Osteogenesis imperfecta type I [RCV001729994] Chr17:50192649 [GRCh38]
Chr17:48270010 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2120G>A (p.Gly707Asp) single nucleotide variant not provided [RCV001570275] Chr17:50191795 [GRCh38]
Chr17:48269156 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3827T>A (p.Ile1276Asn) single nucleotide variant not provided [RCV001548378] Chr17:50186495 [GRCh38]
Chr17:48263856 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV000989951]|Osteogenesis imperfecta type III [RCV002250711]|not provided [RCV003128733] Chr17:50199429 [GRCh38]
Chr17:48276790 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2445_2446delinsA (p.Pro817fs) indel not provided [RCV001549427] Chr17:50190332..50190333 [GRCh38]
Chr17:48267693..48267694 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4006-33G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002070436]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002501954]|not provided [RCV001593596]|not specified [RCV002246444] Chr17:50186053 [GRCh38]
Chr17:48263414 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.806G>C (p.Gly269Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002467484] Chr17:50196669 [GRCh38]
Chr17:48274030 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1427G>T (p.Gly476Val) single nucleotide variant Osteogenesis imperfecta type I [RCV002466865] Chr17:50194755 [GRCh38]
Chr17:48272116 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.323C>T (p.Thr108Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003631206]|not provided [RCV001570925] Chr17:50199566 [GRCh38]
Chr17:48276927 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) single nucleotide variant Cardiovascular phenotype [RCV002368578]|Osteogenesis imperfecta type I [RCV002072113]|not provided [RCV001558868] Chr17:50186446 [GRCh38]
Chr17:48263807 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1515+30C>G single nucleotide variant not provided [RCV001595690] Chr17:50194543 [GRCh38]
Chr17:48271904 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2235_2235+1del microsatellite not provided [RCV001549737] Chr17:50191382..50191383 [GRCh38]
Chr17:48268743..48268744 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3656A>G (p.Asp1219Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV002032604]|not provided [RCV001554917] Chr17:50186798 [GRCh38]
Chr17:48264159 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.*142del deletion not provided [RCV001594275] Chr17:50185360 [GRCh38]
Chr17:48262721 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.574C>G (p.Pro192Ala) single nucleotide variant not provided [RCV003231825] Chr17:50198175 [GRCh38]
Chr17:48275536 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4006-110G>A single nucleotide variant not provided [RCV001576540] Chr17:50186130 [GRCh38]
Chr17:48263491 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV002471342] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) single nucleotide variant COL1A1-related disorder [RCV004551921]|Cardiovascular phenotype [RCV002458536]|Congenital heart disease [RCV001839049]|Osteogenesis imperfecta type I [RCV002072194]|not provided [RCV001569333] Chr17:50199451 [GRCh38]
Chr17:48276812 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3045G>A (p.Glu1015=) single nucleotide variant not provided [RCV002469868] Chr17:50188903 [GRCh38]
Chr17:48266264 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.319_322dup (p.Thr108fs) duplication Osteogenesis imperfecta type I [RCV002472216] Chr17:50199566..50199567 [GRCh38]
Chr17:48276927..48276928 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3139G>C (p.Ala1047Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001065369] Chr17:50188598 [GRCh38]
Chr17:48265959 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.103+2T>C single nucleotide variant Osteogenesis imperfecta [RCV003994205]|Osteogenesis imperfecta type I [RCV001065489] Chr17:50201409 [GRCh38]
Chr17:48278770 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2786dup (p.Ala931fs) duplication Osteogenesis imperfecta type I [RCV003631173]|not provided [RCV001009182] Chr17:50189419..50189420 [GRCh38]
Chr17:48266780..48266781 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-140dup duplication not provided [RCV001723235] Chr17:50198643..50198644 [GRCh38]
Chr17:48276004..48276005 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2127+128G>C single nucleotide variant not provided [RCV001716774] Chr17:50191660 [GRCh38]
Chr17:48269021 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.299-76T>A single nucleotide variant not provided [RCV001589801] Chr17:50199666 [GRCh38]
Chr17:48277027 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1674C>T (p.Pro558=) single nucleotide variant Cardiovascular phenotype [RCV002405273]|Osteogenesis imperfecta type I [RCV002073054]|not provided [RCV001653152] Chr17:50194036 [GRCh38]
Chr17:48271397 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3056G>C (p.Gly1019Ala) single nucleotide variant not provided [RCV001590881] Chr17:50188785 [GRCh38]
Chr17:48266146 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001882757]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002495986]|not provided [RCV001658929] Chr17:50195457 [GRCh38]
Chr17:48272818 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.*1025_*1026del deletion not provided [RCV001636204] Chr17:50184476..50184477 [GRCh38]
Chr17:48261837..48261838 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.472-169C>G single nucleotide variant not provided [RCV001595232] Chr17:50198673 [GRCh38]
Chr17:48276034 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.*548C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001123014]|Infantile cortical hyperostosis [RCV001123016]|Osteogenesis imperfecta [RCV001123015] Chr17:50184954 [GRCh38]
Chr17:48262315 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NC_000017.11:g.(?_50190233)_(50190390_?)dup duplication Osteogenesis imperfecta type I [RCV001033941] Chr17:48267594..48267751 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.-57G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001125068]|Infantile cortical hyperostosis [RCV001125067]|Osteogenesis imperfecta [RCV001125069] Chr17:50201570 [GRCh38]
Chr17:48278931 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.1301G>C (p.Gly434Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001070529] Chr17:50195099 [GRCh38]
Chr17:48272460 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2155G>T (p.Gly719Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001048795] Chr17:50191463 [GRCh38]
Chr17:48268824 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) single nucleotide variant Cardiovascular phenotype [RCV002348569]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001124859]|Infantile cortical hyperostosis [RCV001124858]|Osteogenesis imperfecta [RCV001124860]|Osteogenesis imperfecta type I [RCV002070034]|not provided [RCV003128813] Chr17:50195962 [GRCh38]
Chr17:48273323 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) single nucleotide variant Cardiovascular phenotype [RCV003283992]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001125750]|Infantile cortical hyperostosis [RCV001125751]|Osteogenesis imperfecta [RCV001125752]|Osteogenesis imperfecta type I [RCV002556724] Chr17:50195259 [GRCh38]
Chr17:48272620 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*1151C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126540]|Infantile cortical hyperostosis [RCV001126538]|Osteogenesis imperfecta [RCV001126539] Chr17:50184351 [GRCh38]
Chr17:48261712 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1562del (p.Gly521fs) deletion Osteogenesis imperfecta type I [RCV001047662] Chr17:50194401 [GRCh38]
Chr17:48271762 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1443C>T (p.Pro481=) single nucleotide variant Cardiovascular phenotype [RCV002393381]|Osteogenesis imperfecta type I [RCV003517302]|not provided [RCV001171797] Chr17:50194739 [GRCh38]
Chr17:48272100 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*837G>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001122906]|Infantile cortical hyperostosis [RCV001122908]|Osteogenesis imperfecta [RCV001122907] Chr17:50184665 [GRCh38]
Chr17:48262026 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*73C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001124183]|Infantile cortical hyperostosis [RCV001124184]|Osteogenesis imperfecta [RCV001123097] Chr17:50185429 [GRCh38]
Chr17:48262790 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) single nucleotide variant Cardiovascular phenotype [RCV002348571]|Ehlers-Danlos syndrome [RCV002276632]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127364]|Infantile cortical hyperostosis [RCV001127363]|Osteogenesis imperfecta [RCV001127362]|Osteogenesis imperfecta type I [RCV001856661]|not provided [RCV003222227] Chr17:50186699 [GRCh38]
Chr17:48264060 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) single nucleotide variant Cardiovascular phenotype [RCV003380850]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001127481]|Infantile cortical hyperostosis [RCV001127483]|Osteogenesis imperfecta [RCV001127482]|Osteogenesis imperfecta type I [RCV001219328]|not provided [RCV003480969] Chr17:50188110 [GRCh38]
Chr17:48265471 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.504T>G (p.Asp168Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001048014] Chr17:50198472 [GRCh38]
Chr17:48275833 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) single nucleotide variant Cardiovascular phenotype [RCV002451330]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001123290]|Infantile cortical hyperostosis [RCV001123292]|Osteogenesis imperfecta [RCV001123291]|Osteogenesis imperfecta type I [RCV003631175] Chr17:50186835 [GRCh38]
Chr17:48264196 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3987C>T (p.Ser1329=) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001124276]|Infantile cortical hyperostosis [RCV001124277]|Osteogenesis imperfecta [RCV001124278]|Osteogenesis imperfecta type I [RCV001856637] Chr17:50186335 [GRCh38]
Chr17:48263696 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.696+54G>A single nucleotide variant not provided [RCV001683713]|not specified [RCV001000229] Chr17:50197678 [GRCh38]
Chr17:48275039 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.203TGT[1] (p.Leu69del) microsatellite not specified [RCV001000716] Chr17:50199843..50199845 [GRCh38]
Chr17:48277204..48277206 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2769TCCCCCTGG[1] (p.925PGP[1]) microsatellite not specified [RCV001001365] Chr17:50189420..50189428 [GRCh38]
Chr17:48266781..48266789 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.103+277dup duplication not provided [RCV001694271] Chr17:50201133..50201134 [GRCh38]
Chr17:48278494..48278495 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2127+60T>C single nucleotide variant not provided [RCV001546679]|not specified [RCV001001531] Chr17:50191728 [GRCh38]
Chr17:48269089 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2888_2889del (p.Leu963fs) deletion Osteogenesis imperfecta type I [RCV001035902] Chr17:50189216..50189217 [GRCh38]
Chr17:48266577..48266578 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1056+129T>G single nucleotide variant not provided [RCV001667422] Chr17:50195794 [GRCh38]
Chr17:48273155 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3903C>T (p.Tyr1301=) single nucleotide variant not provided [RCV001583256] Chr17:50186419 [GRCh38]
Chr17:48263780 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3207+163G>T single nucleotide variant not provided [RCV001724911] Chr17:50188367 [GRCh38]
Chr17:48265728 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3369+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001072096] Chr17:50187875 [GRCh38]
Chr17:48265236 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.298+20CTGGGGC[3] microsatellite not provided [RCV001546427] Chr17:50199699..50199712 [GRCh38]
Chr17:48277060..48277073 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1760G>T (p.Gly587Val) single nucleotide variant not provided [RCV001596907] Chr17:50193950 [GRCh38]
Chr17:48271311 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3102_3111dup (p.Glu1038Ter) duplication not provided [RCV001663531] Chr17:50188625..50188626 [GRCh38]
Chr17:48265986..48265987 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2614-22T>C single nucleotide variant not provided [RCV001648682] Chr17:50189754 [GRCh38]
Chr17:48267115 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1853_1857del (p.Ala618fs) deletion Osteogenesis imperfecta type I [RCV001067373] Chr17:50192815..50192819 [GRCh38]
Chr17:48270176..48270180 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1462-33C>T single nucleotide variant not provided [RCV001709265] Chr17:50194659 [GRCh38]
Chr17:48272020 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.103+123_103+125del microsatellite not provided [RCV001583923] Chr17:50201286..50201288 [GRCh38]
Chr17:48278647..48278649 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3538C>A (p.Pro1180Thr) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001002771] Chr17:50186916 [GRCh38]
Chr17:48264277 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.391C>T (p.Arg131Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001235657] Chr17:50199306 [GRCh38]
Chr17:48276667 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2059G>A (p.Val687Met) single nucleotide variant Osteogenesis imperfecta type I [RCV001219400] Chr17:50191856 [GRCh38]
Chr17:48269217 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4005+44G>A single nucleotide variant not provided [RCV001547976]|not specified [RCV001000489] Chr17:50186273 [GRCh38]
Chr17:48263634 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) single nucleotide variant not specified [RCV001001278] Chr17:50193995 [GRCh38]
Chr17:48271356 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.104-441G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001517237]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002497319]|not provided [RCV004710233]|not specified [RCV001001484] Chr17:50200388 [GRCh38]
Chr17:48277749 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2058_2062del (p.Val687fs) deletion Osteogenesis imperfecta type I [RCV001220253] Chr17:50191853..50191857 [GRCh38]
Chr17:48269214..48269218 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2522del (p.Pro841fs) deletion Osteogenesis imperfecta type I [RCV001237216] Chr17:50190038 [GRCh38]
Chr17:48267399 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4325T>C (p.Val1442Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001220320] Chr17:50185572 [GRCh38]
Chr17:48262933 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3821A>C (p.Tyr1274Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001056673] Chr17:50186501 [GRCh38]
Chr17:48263862 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1748C>G (p.Pro583Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001060685]|not provided [RCV001814263] Chr17:50193962 [GRCh38]
Chr17:48271323 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2048G>C (p.Gly683Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001236885] Chr17:50191867 [GRCh38]
Chr17:48269228 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2128-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001061299] Chr17:50191491 [GRCh38]
Chr17:48268852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1550C>T (p.Ala517Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001212603] Chr17:50194413 [GRCh38]
Chr17:48271774 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4325_4347del (p.Val1442fs) deletion Osteogenesis imperfecta type I [RCV001057596] Chr17:50185550..50185572 [GRCh38]
Chr17:48262911..48262933 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1241C>T (p.Ala414Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001002761] Chr17:50195290 [GRCh38]
Chr17:48272651 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2829+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001869431]|not specified [RCV001002497] Chr17:50189376 [GRCh38]
Chr17:48266737 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*342C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126748]|Infantile cortical hyperostosis [RCV001126747]|Osteogenesis imperfecta [RCV001124085] Chr17:50185160 [GRCh38]
Chr17:48262521 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3652G>A (p.Ala1218Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001058312] Chr17:50186802 [GRCh38]
Chr17:48264163 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001054386] Chr17:50198428 [GRCh38]
Chr17:48275789 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.164C>A (p.Pro55His) single nucleotide variant Osteogenesis imperfecta type I [RCV001233236] Chr17:50199887 [GRCh38]
Chr17:48277248 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2320C>G (p.Pro774Ala) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001124577]|Infantile cortical hyperostosis [RCV001124578]|Osteogenesis imperfecta [RCV001124576] Chr17:50190840 [GRCh38]
Chr17:48268201 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.835G>A (p.Asp279Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001040197] Chr17:50196640 [GRCh38]
Chr17:48274001 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2397C>T (p.Pro799=) single nucleotide variant Ehlers-Danlos syndrome [RCV002276605]|Osteogenesis imperfecta type I [RCV001054678] Chr17:50190543 [GRCh38]
Chr17:48267904 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2444del (p.Gly815fs) deletion Osteogenesis imperfecta type I [RCV001235449] Chr17:50190334 [GRCh38]
Chr17:48267695 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1305del (p.Glu435fs) deletion Osteogenesis imperfecta type I [RCV001048130] Chr17:50195095 [GRCh38]
Chr17:48272456 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.(?_50194701)_(50203629_?)del deletion Osteogenesis imperfecta type I [RCV001033746] Chr17:48272062..48280990 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser) single nucleotide variant Osteogenesis imperfecta [RCV003117728]|Osteogenesis imperfecta type I [RCV001054858] Chr17:50193978 [GRCh38]
Chr17:48271339 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) single nucleotide variant Cardiovascular phenotype [RCV002393283]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001121993]|Infantile cortical hyperostosis [RCV001121992]|Osteogenesis imperfecta [RCV001121991]|Osteogenesis imperfecta type I [RCV001058869]|not provided [RCV001090964] Chr17:50194596 [GRCh38]
Chr17:48271957 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2084del (p.Gly695fs) deletion COL1A1-related disorder [RCV004547964]|Osteogenesis imperfecta type I [RCV001058870]|Osteogenesis imperfecta type III [RCV002250721] Chr17:50191831 [GRCh38]
Chr17:48269192 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2796C>T (p.Gly932=) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001125491]|Infantile cortical hyperostosis [RCV001125489]|Osteogenesis imperfecta [RCV001125490]|Osteogenesis imperfecta type I [RCV002556719] Chr17:50189410 [GRCh38]
Chr17:48266771 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2774del (p.Pro925fs) deletion Osteogenesis imperfecta type I [RCV001236361] Chr17:50189432 [GRCh38]
Chr17:48266793 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.290A>G (p.Asp97Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV001245549]|not provided [RCV004590276] Chr17:50199761 [GRCh38]
Chr17:48277122 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3529G>A (p.Val1177Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001232664] Chr17:50187017 [GRCh38]
Chr17:48264378 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1768-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001039589]|not provided [RCV001564365] Chr17:50193048 [GRCh38]
Chr17:48270409 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2704G>A (p.Gly902Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001035598] Chr17:50189502 [GRCh38]
Chr17:48266863 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.*93A>G single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001127152]|Infantile cortical hyperostosis [RCV001127151]|Osteogenesis imperfecta [RCV001123093] Chr17:50185409 [GRCh38]
Chr17:48262770 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.*285C>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126750]|Infantile cortical hyperostosis [RCV001126749]|Osteogenesis imperfecta [RCV001126751] Chr17:50185217 [GRCh38]
Chr17:48262578 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126861]|Infantile cortical hyperostosis [RCV001126860]|Osteogenesis imperfecta [RCV001126862] Chr17:50185621 [GRCh38]
Chr17:48262982 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3815-10C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001126946]|Infantile cortical hyperostosis [RCV001126948]|Osteogenesis imperfecta [RCV001126947]|Osteogenesis imperfecta type I [RCV002556768] Chr17:50186517 [GRCh38]
Chr17:48263878 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.*120T>C single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001127148]|Infantile cortical hyperostosis [RCV001127150]|Osteogenesis imperfecta [RCV001127149] Chr17:50185382 [GRCh38]
Chr17:48262743 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1554C>A (p.Gly518=) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001121988]|Infantile cortical hyperostosis [RCV001121989]|Osteogenesis imperfecta [RCV001121990] Chr17:50194409 [GRCh38]
Chr17:48271770 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3135del (p.Gly1046fs) deletion Osteogenesis imperfecta type I [RCV001860595]|not provided [RCV001008788] Chr17:50188602 [GRCh38]
Chr17:48265963 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*356T>A single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001124083]|Infantile cortical hyperostosis [RCV001124084]|Osteogenesis imperfecta [RCV001124082] Chr17:50185146 [GRCh38]
Chr17:48262507 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+12C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001122080]|Infantile cortical hyperostosis [RCV001122081]|Osteogenesis imperfecta [RCV001127855]|Osteogenesis imperfecta type I [RCV002069982] Chr17:50195555 [GRCh38]
Chr17:48272916 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) single nucleotide variant Cardiovascular phenotype [RCV004994255]|Ehlers-Danlos syndrome, arthrochalasia type [RCV001122083]|Infantile cortical hyperostosis [RCV001122082]|Osteogenesis imperfecta [RCV001122084]|Osteogenesis imperfecta type I [RCV001724251]|not provided [RCV003480966] Chr17:50195934 [GRCh38]
Chr17:48273295 [GRCh37]
Chr17:17q21.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.1821+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001051120] Chr17:50192993 [GRCh38]
Chr17:48270354 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2036G>C (p.Arg679Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001247864] Chr17:50191879 [GRCh38]
Chr17:48269240 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2397del (p.Gly800fs) deletion Osteogenesis imperfecta type I [RCV001213257] Chr17:50190543 [GRCh38]
Chr17:48267904 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2928del (p.Gly977fs) deletion Osteogenesis imperfecta type I [RCV001056138] Chr17:50189177 [GRCh38]
Chr17:48266538 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.*836C>T single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV001123976]|Infantile cortical hyperostosis [RCV001123975]|Osteogenesis imperfecta [RCV001123977] Chr17:50184666 [GRCh38]
Chr17:48262027 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3550G>A (p.Gly1184Arg) single nucleotide variant not provided [RCV001090959] Chr17:50186904 [GRCh38]
Chr17:48264265 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2829+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002555943]|not provided [RCV001090960] Chr17:50189376 [GRCh38]
Chr17:48266737 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2900del (p.Arg967fs) deletion Osteogenesis imperfecta type I [RCV001214209] Chr17:50189205 [GRCh38]
Chr17:48266566 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.952C>T (p.Pro318Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001062855]|not provided [RCV004773282] Chr17:50196319 [GRCh38]
Chr17:48273680 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4214G>A (p.Arg1405His) single nucleotide variant Osteogenesis imperfecta type I [RCV001246832] Chr17:50185812 [GRCh38]
Chr17:48263173 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4248+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001056827] Chr17:50185776 [GRCh38]
Chr17:48263137 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.626G>C (p.Gly209Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001214471] Chr17:50197965 [GRCh38]
Chr17:48275326 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3531+3A>T single nucleotide variant Osteogenesis imperfecta [RCV003994239]|Osteogenesis imperfecta type I [RCV001232603] Chr17:50187012 [GRCh38]
Chr17:48264373 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.727G>T (p.Glu243Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002560234]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001197453] Chr17:50197203 [GRCh38]
Chr17:48274564 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.310_313del (p.Asp104fs) deletion Osteogenesis imperfecta type I [RCV001038837] Chr17:50199576..50199579 [GRCh38]
Chr17:48276937..48276940 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1721G>A (p.Arg574His) single nucleotide variant Osteogenesis imperfecta type I [RCV001245995] Chr17:50193989 [GRCh38]
Chr17:48271350 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2985del (p.Pro997fs) deletion Osteogenesis imperfecta type I [RCV001215494] Chr17:50188963 [GRCh38]
Chr17:48266324 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001063643] Chr17:50196530 [GRCh38]
Chr17:48273891 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) single nucleotide variant Cardiovascular phenotype [RCV002339320]|Osteogenesis imperfecta type I [RCV001063892] Chr17:50187038 [GRCh38]
Chr17:48264399 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3815-9C>T single nucleotide variant not provided [RCV001579655] Chr17:50186516 [GRCh38]
Chr17:48263877 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.904-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001253294] Chr17:50196368 [GRCh38]
Chr17:48273729 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3128G>C (p.Gly1043Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001253008] Chr17:50188609 [GRCh38]
Chr17:48265970 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2902G>T (p.Gly968Ter) single nucleotide variant sellar metastasis from primary bronchial carcinoid tumor [RCV001251072] Chr17:50189203 [GRCh38]
Chr17:48266564 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2793del (p.Gly932fs) deletion Osteogenesis imperfecta type I [RCV001253438] Chr17:50189413 [GRCh38]
Chr17:48266774 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.3(COL1A1):c.545delG deletion Osteogenesis imperfecta [RCV001260271] Chr17:50198204 [GRCh38]
Chr17:48275565 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.992C>T (p.Ala331Val) single nucleotide variant Osteogenesis imperfecta [RCV001260274]|Osteogenesis imperfecta type I [RCV003631174]|not provided [RCV001759859] Chr17:50196165 [GRCh38]
Chr17:48273526 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1461+2T>G single nucleotide variant Osteogenesis imperfecta type I [RCV001262604] Chr17:50194719 [GRCh38]
Chr17:48272080 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.731G>T (p.Arg244Leu) single nucleotide variant Cardiovascular phenotype [RCV004608001] Chr17:50197199 [GRCh38]
Chr17:48274560 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4350A>G (p.Pro1450=) single nucleotide variant Cardiovascular phenotype [RCV004608002] Chr17:50185547 [GRCh38]
Chr17:48262908 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1440G>T (p.Leu480=) single nucleotide variant Cardiovascular phenotype [RCV004608003] Chr17:50194742 [GRCh38]
Chr17:48272103 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1701C>G (p.Pro567=) single nucleotide variant Cardiovascular phenotype [RCV004607998] Chr17:50194009 [GRCh38]
Chr17:48271370 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2569G>T (p.Gly857Cys) single nucleotide variant Osteogenesis imperfecta [RCV001260270]|Osteogenesis imperfecta type I [RCV002471036] Chr17:50189903 [GRCh38]
Chr17:48267264 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3495T>G (p.Pro1165=) single nucleotide variant Cardiovascular phenotype [RCV004608000] Chr17:50187051 [GRCh38]
Chr17:48264412 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1094G>T (p.Gly365Val) single nucleotide variant COL1A1-related disorder [RCV004548123]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002222200]|Osteogenesis imperfecta, perinatal lethal [RCV003235539]|not provided [RCV001812395] Chr17:50195628 [GRCh38]
Chr17:48272989 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1112G>C (p.Gly371Ala) single nucleotide variant Osteogenesis imperfecta [RCV001260265] Chr17:50195610 [GRCh38]
Chr17:48272971 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3769del (p.Arg1257fs) deletion Infantile cortical hyperostosis [RCV001262343] Chr17:50186685 [GRCh38]
Chr17:48264046 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NC_000017.10:g.(?_48267594)_(48267751_?)dup duplication Osteogenesis imperfecta type I [RCV001303754] Chr17:48267594..48267751 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3072T>G (p.Pro1024=) single nucleotide variant Cardiovascular phenotype [RCV004608005] Chr17:50188769 [GRCh38]
Chr17:48266130 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.253_286del (p.Glu85fs) deletion not provided [RCV001267995] Chr17:50199765..50199798 [GRCh38]
Chr17:48277126..48277159 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3164G>A (p.Gly1055Asp) single nucleotide variant not provided [RCV001268395] Chr17:50188573 [GRCh38]
Chr17:48265934 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1646del (p.Pro549fs) deletion Osteogenesis imperfecta [RCV001260267]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005021436] Chr17:50194152 [GRCh38]
Chr17:48271513 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2981G>A (p.Arg994His) single nucleotide variant Osteogenesis imperfecta type I [RCV001348422] Chr17:50188967 [GRCh38]
Chr17:48266328 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2102del (p.Gly701fs) deletion Osteogenesis imperfecta [RCV001260272] Chr17:50191813 [GRCh38]
Chr17:48269174 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.(?_50193945)_(50201396_?)del deletion Osteogenesis imperfecta [RCV001260268] Chr17:48271306..48278757 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3370-1G>C single nucleotide variant Osteogenesis imperfecta [RCV001260269] Chr17:50187538 [GRCh38]
Chr17:48264899 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.235_245del (p.Lys79fs) deletion not provided [RCV001310370] Chr17:50199806..50199816 [GRCh38]
Chr17:48277167..48277177 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1920C>T (p.Pro640=) single nucleotide variant COL1A1-related disorder [RCV004738229]|Cardiovascular phenotype [RCV002411931]|Osteogenesis imperfecta type I [RCV001495269]|not specified [RCV001289257] Chr17:50192649 [GRCh38]
Chr17:48270010 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.1004G>A (p.Gly335Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001263481] Chr17:50195975 [GRCh38]
Chr17:48273336 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.*4C>T single nucleotide variant not provided [RCV001580963] Chr17:50185498 [GRCh38]
Chr17:48262859 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+5G>T single nucleotide variant not provided [RCV001764882] Chr17:50199748 [GRCh38]
Chr17:48277109 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.459del (p.Gly154fs) deletion Osteogenesis imperfecta type I [RCV003517320]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV001261594] Chr17:50199238 [GRCh38]
Chr17:48276599 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1281del (p.Gly428fs) deletion Osteogenesis imperfecta [RCV001260266] Chr17:50195250 [GRCh38]
Chr17:48272611 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1002+5G>T single nucleotide variant Osteogenesis imperfecta [RCV001260273] Chr17:50196150 [GRCh38]
Chr17:48273511 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.795G>A (p.Lys265=) single nucleotide variant Osteogenesis imperfecta type I [RCV001295257] Chr17:50197019 [GRCh38]
Chr17:48274380 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1247G>T (p.Gly416Val) single nucleotide variant Osteogenesis imperfecta [RCV003128164]|not provided [RCV001812983] Chr17:50195284 [GRCh38]
Chr17:48272645 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001280841] Chr17:50191841 [GRCh38]
Chr17:48269202 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3379G>C (p.Gly1127Arg) single nucleotide variant not provided [RCV001812361] Chr17:50187528 [GRCh38]
Chr17:48264889 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2797G>A (p.Glu933Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV001298132] Chr17:50189409 [GRCh38]
Chr17:48266770 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4067G>T (p.Arg1356Leu) single nucleotide variant COL1A1-related disorder [RCV004548126]|not provided [RCV001289262] Chr17:50185959 [GRCh38]
Chr17:48263320 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4054C>G (p.Leu1352Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001348983]|not provided [RCV001507020] Chr17:50185972 [GRCh38]
Chr17:48263333 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2024C>A (p.Ala675Glu) single nucleotide variant COL1A1-related disorder [RCV004738241]|Osteogenesis imperfecta type I [RCV001309487] Chr17:50191984 [GRCh38]
Chr17:48269345 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1092A>C (p.Glu364Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001304096] Chr17:50195630 [GRCh38]
Chr17:48272991 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3207+3A>G single nucleotide variant Infantile cortical hyperostosis [RCV001330769] Chr17:50188527 [GRCh38]
Chr17:48265888 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001337402] Chr17:50189900 [GRCh38]
Chr17:48267261 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2645G>A (p.Arg882Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV001295018] Chr17:50189701 [GRCh38]
Chr17:48267062 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) single nucleotide variant Cardiovascular phenotype [RCV002418966]|Ehlers-Danlos syndrome [RCV002276691]|Osteogenesis imperfecta type I [RCV001321934]|not provided [RCV003145567] Chr17:50192003 [GRCh38]
Chr17:48269364 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1107_1108delinsAG (p.Arg370Gly) indel Osteogenesis imperfecta type I [RCV001343937] Chr17:50195614..50195615 [GRCh38]
Chr17:48272975..48272976 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48264825)_(48278894_?)dup duplication Osteogenesis imperfecta type I [RCV001313158] Chr17:48264825..48278894 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.762A>T (p.Gly254=) single nucleotide variant Osteogenesis imperfecta type I [RCV001337752] Chr17:50197052 [GRCh38]
Chr17:48274413 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1087T>C (p.Ser363Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001306644]|not provided [RCV003145542] Chr17:50195635 [GRCh38]
Chr17:48272996 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1768-9T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001433851] Chr17:50193056 [GRCh38]
Chr17:48270417 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4038C>T (p.Ala1346=) single nucleotide variant Cardiovascular phenotype [RCV002358972]|Osteogenesis imperfecta type I [RCV001434128] Chr17:50185988 [GRCh38]
Chr17:48263349 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2028+18G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002069515]|not provided [RCV001812354] Chr17:50191962 [GRCh38]
Chr17:48269323 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1983+16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002069533]|not provided [RCV001810602] Chr17:50192459 [GRCh38]
Chr17:48269820 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=) single nucleotide variant Osteogenesis imperfecta type I [RCV002543002]|not provided [RCV001289260] Chr17:50186869 [GRCh38]
Chr17:48264230 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2696G>A (p.Gly899Asp) single nucleotide variant not provided [RCV001269670] Chr17:50189510 [GRCh38]
Chr17:48266871 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.862G>A (p.Glu288Lys) single nucleotide variant Ehlers-Danlos syndrome, classic type [RCV003227991]|Osteogenesis imperfecta type I [RCV001868882]|not provided [RCV001786716] Chr17:50196525 [GRCh38]
Chr17:48273886 [GRCh37]
Chr17:17q21.33		 uncertain significance|not provided
NM_000088.4(COL1A1):c.983C>A (p.Thr328Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001369199] Chr17:50196174 [GRCh38]
Chr17:48273535 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3051del (p.Pro1018fs) deletion Osteogenesis imperfecta type I [RCV001383105] Chr17:50188790 [GRCh38]
Chr17:48266151 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2445C>A (p.Gly815=) single nucleotide variant Osteogenesis imperfecta type I [RCV001433704] Chr17:50190333 [GRCh38]
Chr17:48267694 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2907_2908delinsAT (p.Arg970Ter) indel Osteogenesis imperfecta type I [RCV001383242] Chr17:50189197..50189198 [GRCh38]
Chr17:48266558..48266559 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3419C>T (p.Pro1140Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001370478] Chr17:50187488 [GRCh38]
Chr17:48264849 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.497G>T (p.Gly166Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001360670]|not provided [RCV004762121] Chr17:50198479 [GRCh38]
Chr17:48275840 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3975G>T (p.Trp1325Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001373665] Chr17:50186347 [GRCh38]
Chr17:48263708 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.2154C>T (p.Pro718=) single nucleotide variant Osteogenesis imperfecta type I [RCV001422045] Chr17:50191464 [GRCh38]
Chr17:48268825 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) single nucleotide variant Cardiovascular phenotype [RCV004034266]|Osteogenesis imperfecta type I [RCV001312787] Chr17:50186337 [GRCh38]
Chr17:48263698 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.1828G>A (p.Ala610Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001301719] Chr17:50192844 [GRCh38]
Chr17:48270205 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1540C>T (p.Pro514Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001371763] Chr17:50194423 [GRCh38]
Chr17:48271784 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.549del (p.Ser184fs) deletion not provided [RCV001289263] Chr17:50198200 [GRCh38]
Chr17:48275561 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3754C>T (p.Arg1252Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001340843]|not provided [RCV002222701] Chr17:50186700 [GRCh38]
Chr17:48264061 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.247G>A (p.Gly83Ser) single nucleotide variant COL1A1-related disorder [RCV004738251]|Osteogenesis imperfecta type I [RCV001325564] Chr17:50199804 [GRCh38]
Chr17:48277165 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.614dup (p.Gly206fs) duplication Osteogenesis imperfecta type I [RCV001880201]|not provided [RCV001269980] Chr17:50197976..50197977 [GRCh38]
Chr17:48275337..48275338 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2235+5G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001320405] Chr17:50191378 [GRCh38]
Chr17:48268739 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1351C>G (p.Pro451Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001324233]|not provided [RCV003738042] Chr17:50195049 [GRCh38]
Chr17:48272410 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4226G>T (p.Ser1409Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001300551] Chr17:50185800 [GRCh38]
Chr17:48263161 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.481C>T (p.Pro161Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001314930] Chr17:50198495 [GRCh38]
Chr17:48275856 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) single nucleotide variant Cardiovascular phenotype [RCV002438756]|Osteogenesis imperfecta type I [RCV001327713]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004546634] Chr17:50195613 [GRCh38]
Chr17:48272974 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001324366] Chr17:50192003 [GRCh38]
Chr17:48269364 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) single nucleotide variant Cardiovascular phenotype [RCV002357186]|Osteogenesis imperfecta type I [RCV001344238] Chr17:50195473 [GRCh38]
Chr17:48272834 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4373T>C (p.Val1458Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001347559] Chr17:50185524 [GRCh38]
Chr17:48262885 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3887G>T (p.Gly1296Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001299419] Chr17:50186435 [GRCh38]
Chr17:48263796 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1460G>A (p.Arg487His) single nucleotide variant Osteogenesis imperfecta type I [RCV001359432] Chr17:50194722 [GRCh38]
Chr17:48272083 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3398G>A (p.Gly1133Glu) single nucleotide variant Infantile cortical hyperostosis [RCV001330771] Chr17:50187509 [GRCh38]
Chr17:48264870 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.644G>T (p.Gly215Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001330773] Chr17:50197784 [GRCh38]
Chr17:48275145 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1876-3C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001295609] Chr17:50192696 [GRCh38]
Chr17:48270057 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1522G>A (p.Ala508Thr) single nucleotide variant Cardiovascular phenotype [RCV004995694]|Osteogenesis imperfecta type I [RCV001343148]|not provided [RCV001762577] Chr17:50194441 [GRCh38]
Chr17:48271802 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) deletion Cardiovascular phenotype [RCV003166861]|Osteogenesis imperfecta type I [RCV001321336] Chr17:50186368..50186370 [GRCh38]
Chr17:48263729..48263731 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1821C>G (p.Val607=) single nucleotide variant Osteogenesis imperfecta type I [RCV001345593] Chr17:50192994 [GRCh38]
Chr17:48270355 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2235+4A>C single nucleotide variant Osteogenesis imperfecta [RCV002276717]|Osteogenesis imperfecta type I [RCV001373356]|not provided [RCV003329405] Chr17:50191379 [GRCh38]
Chr17:48268740 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.400dup (p.Ile134fs) duplication none provided [RCV001285170] Chr17:50199296..50199297 [GRCh38]
Chr17:48276657..48276658 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3469G>C (p.Gly1157Arg) single nucleotide variant not provided [RCV001812477] Chr17:50187077 [GRCh38]
Chr17:48264438 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2588G>A (p.Gly863Asp) single nucleotide variant not provided [RCV001812973] Chr17:50189884 [GRCh38]
Chr17:48267245 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2489G>C (p.Gly830Ala) single nucleotide variant not provided [RCV001813044] Chr17:50190071 [GRCh38]
Chr17:48267432 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2969del (p.Ala990fs) deletion not provided [RCV001289258] Chr17:50188979 [GRCh38]
Chr17:48266340 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3122C>T (p.Pro1041Leu) single nucleotide variant Infantile cortical hyperostosis [RCV001330768]|Osteogenesis imperfecta type I [RCV001859280] Chr17:50188615 [GRCh38]
Chr17:48265976 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1861C>A (p.Pro621Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001341098]|not provided [RCV002261347] Chr17:50192811 [GRCh38]
Chr17:48270172 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) single nucleotide variant COL1A1-related disorder [RCV004738271]|Osteogenesis imperfecta type I [RCV001365637]|not provided [RCV001762634] Chr17:50185945 [GRCh38]
Chr17:48263306 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2892T>G (p.Pro964=) single nucleotide variant Osteogenesis imperfecta type I [RCV002070134]|not provided [RCV001310367] Chr17:50189213 [GRCh38]
Chr17:48266574 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3531+4T>C single nucleotide variant Cardiovascular phenotype [RCV004034085]|Osteogenesis imperfecta type I [RCV001306247]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002486194]|not provided [RCV004692458] Chr17:50187011 [GRCh38]
Chr17:48264372 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3531+10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001492137] Chr17:50187005 [GRCh38]
Chr17:48264366 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3910C>T (p.Gln1304Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001387168]|not provided [RCV004699359] Chr17:50186412 [GRCh38]
Chr17:48263773 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1815C>A (p.Gly605=) single nucleotide variant Cardiovascular phenotype [RCV002414144]|Osteogenesis imperfecta type I [RCV001475055] Chr17:50193000 [GRCh38]
Chr17:48270361 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4213C>T (p.Arg1405Cys) single nucleotide variant not provided [RCV001508815] Chr17:50185813 [GRCh38]
Chr17:48263174 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) single nucleotide variant COL1A1-related disorder [RCV004550287]|Cardiovascular phenotype [RCV004995930]|Osteogenesis imperfecta type I [RCV001515183]|not provided [RCV001538359] Chr17:50185510 [GRCh38]
Chr17:48262871 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1717G>C (p.Ala573Pro) single nucleotide variant not provided [RCV001508817] Chr17:50193993 [GRCh38]
Chr17:48271354 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.958-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001385345]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004770137] Chr17:50196200 [GRCh38]
Chr17:48273561 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1003-8A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001441557] Chr17:50195984 [GRCh38]
Chr17:48273345 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1981C>T (p.Gln661Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001385149] Chr17:50192477 [GRCh38]
Chr17:48269838 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2910A>G (p.Arg970=) single nucleotide variant Cardiovascular phenotype [RCV002439131]|Osteogenesis imperfecta type I [RCV001473729] Chr17:50189195 [GRCh38]
Chr17:48266556 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1248C>A (p.Gly416=) single nucleotide variant Cardiovascular phenotype [RCV002396178]|Osteogenesis imperfecta type I [RCV001491562] Chr17:50195283 [GRCh38]
Chr17:48272644 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.429CCCCGGACC[3] (p.143PPG[5]) microsatellite Cardiovascular phenotype [RCV004037386]|Osteogenesis imperfecta type I [RCV001497952]|not provided [RCV001562648] Chr17:50199250..50199251 [GRCh38]
Chr17:48276611..48276612 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1515+10C>G single nucleotide variant Osteogenesis imperfecta type I [RCV001481099] Chr17:50194563 [GRCh38]
Chr17:48271924 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3552A>T (p.Gly1184=) single nucleotide variant Osteogenesis imperfecta type I [RCV001429165] Chr17:50186902 [GRCh38]
Chr17:48264263 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.976G>C (p.Gly326Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001388662]|Osteogenesis imperfecta, perinatal lethal [RCV001542694]|not provided [RCV001664862] Chr17:50196181 [GRCh38]
Chr17:48273542 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3546T>C (p.Pro1182=) single nucleotide variant Osteogenesis imperfecta type I [RCV001468833] Chr17:50186908 [GRCh38]
Chr17:48264269 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1077G>A (p.Gly359=) single nucleotide variant Osteogenesis imperfecta type I [RCV001468974] Chr17:50195645 [GRCh38]
Chr17:48273006 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3093C>T (p.Gly1031=) single nucleotide variant Cardiovascular phenotype [RCV002322515]|Osteogenesis imperfecta type I [RCV001467564]|not provided [RCV001531274] Chr17:50188748 [GRCh38]
Chr17:48266109 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4291del (p.Thr1431fs) deletion Osteogenesis imperfecta, perinatal lethal [RCV001376027] Chr17:50185606 [GRCh38]
Chr17:48262967 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.697-7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001435705] Chr17:50197240 [GRCh38]
Chr17:48274601 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1821del (p.Gly608fs) deletion Osteogenesis imperfecta type I [RCV001387405] Chr17:50192994 [GRCh38]
Chr17:48270355 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3569G>A (p.Gly1190Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001382247] Chr17:50186885 [GRCh38]
Chr17:48264246 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3531+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001382248] Chr17:50187014 [GRCh38]
Chr17:48264375 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1797del (p.Val600fs) deletion Osteogenesis imperfecta type I [RCV001387241] Chr17:50193018 [GRCh38]
Chr17:48270379 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1354-8del deletion Ehlers-Danlos syndrome [RCV002276736]|Osteogenesis imperfecta type I [RCV001443497] Chr17:50194836 [GRCh38]
Chr17:48272197 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3020del (p.Gly1007fs) deletion Osteogenesis imperfecta type I [RCV001382313] Chr17:50188928 [GRCh38]
Chr17:48266289 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1614+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001387571]|Postmenopausal osteoporosis [RCV001526509] Chr17:50194348 [GRCh38]
Chr17:48271709 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3649del (p.Arg1217fs) deletion Osteogenesis imperfecta type I [RCV001388307] Chr17:50186805 [GRCh38]
Chr17:48264166 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3302_3303insTTGTAACTATTATGAGTCCTAGTTGACTTGAAGTGGAGAAGGCTACGATTTTTTTGAAGCCGCCTAGTTTTAAGAGTACTGCGGCAAGTACTATTGACCCAGCGATGGGGGCTTCGACATGGGCTTTAGGGAGTCATAAGTGGAGTCCGTAAGGCGA (p.Glu1101delinsAspCysAsnTyrTyrGluSerTer) insertion Osteogenesis imperfecta type I [RCV001390069] Chr17:50187942..50187943 [GRCh38]
Chr17:48265303..48265304 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2445C>T (p.Gly815=) single nucleotide variant Osteogenesis imperfecta type I [RCV001439097] Chr17:50190333 [GRCh38]
Chr17:48267694 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.334-26T>A single nucleotide variant not provided [RCV001541502] Chr17:50199479 [GRCh38]
Chr17:48276840 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2584A>T (p.Lys862Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001388491] Chr17:50189888 [GRCh38]
Chr17:48267249 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4008C>T (p.Phe1336=) single nucleotide variant Osteogenesis imperfecta type I [RCV001449434] Chr17:50186018 [GRCh38]
Chr17:48263379 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2101G>A (p.Gly701Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001385148]|Osteogenesis imperfecta type III [RCV002250757]|not provided [RCV003332338] Chr17:50191814 [GRCh38]
Chr17:48269175 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4236C>T (p.Val1412=) single nucleotide variant Cardiovascular phenotype [RCV002329464]|Osteogenesis imperfecta type I [RCV001423803] Chr17:50185790 [GRCh38]
Chr17:48263151 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1491C>T (p.Gly497=) single nucleotide variant Cardiovascular phenotype [RCV003355472]|Osteogenesis imperfecta type I [RCV001430974]|not provided [RCV001581128] Chr17:50194597 [GRCh38]
Chr17:48271958 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3046-1G>T single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001542610] Chr17:50188796 [GRCh38]
Chr17:48266157 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.642+8C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001423852] Chr17:50197941 [GRCh38]
Chr17:48275302 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.814G>A (p.Gly272Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001383972] Chr17:50196661 [GRCh38]
Chr17:48274022 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1764T>C (p.Ala588=) single nucleotide variant Osteogenesis imperfecta type I [RCV001410945] Chr17:50193946 [GRCh38]
Chr17:48271307 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.543+9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001447516] Chr17:50198424 [GRCh38]
Chr17:48275785 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2931C>A (p.Gly977=) single nucleotide variant Cardiovascular phenotype [RCV002438967]|Osteogenesis imperfecta type I [RCV001416258] Chr17:50189174 [GRCh38]
Chr17:48266535 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.642+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV001387639] Chr17:50197947 [GRCh38]
Chr17:48275308 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2678G>C (p.Gly893Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001381575] Chr17:50189528 [GRCh38]
Chr17:48266889 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1404G>A (p.Lys468=) single nucleotide variant Cardiovascular phenotype [RCV002395923]|Osteogenesis imperfecta type I [RCV001408643] Chr17:50194778 [GRCh38]
Chr17:48272139 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3061_3068del (p.Glu1021fs) deletion Osteogenesis imperfecta type I [RCV001386908] Chr17:50188773..50188780 [GRCh38]
Chr17:48266134..48266141 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.394_395del (p.Asp132fs) microsatellite Osteogenesis imperfecta type I [RCV001381952] Chr17:50199302..50199303 [GRCh38]
Chr17:48276663..48276664 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3385C>T (p.Gln1129Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001387169] Chr17:50187522 [GRCh38]
Chr17:48264883 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2220G>T (p.Gly740=) single nucleotide variant Osteogenesis imperfecta type I [RCV001498618] Chr17:50191398 [GRCh38]
Chr17:48268759 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1162_1171delinsAGGT (p.Pro388_Asp391delinsArgTyr) indel not provided [RCV001596910] Chr17:50195463..50195472 [GRCh38]
Chr17:48272824..48272833 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4372G>C (p.Val1458Leu) single nucleotide variant not provided [RCV001596917] Chr17:50185525 [GRCh38]
Chr17:48262886 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2594_2595delinsTT (p.Arg865Leu) indel not provided [RCV001508816] Chr17:50189877..50189878 [GRCh38]
Chr17:48267238..48267239 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) single nucleotide variant COL1A1-related disorder [RCV004738328]|Cardiovascular phenotype [RCV002449349]|Osteogenesis imperfecta type I [RCV001519636] Chr17:50190886 [GRCh38]
Chr17:48268247 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2452-4C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001457840] Chr17:50190112 [GRCh38]
Chr17:48267473 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2619T>C (p.Ala873=) single nucleotide variant Osteogenesis imperfecta type I [RCV001490510] Chr17:50189727 [GRCh38]
Chr17:48267088 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.957+43G>A single nucleotide variant not provided [RCV001588252] Chr17:50196271 [GRCh38]
Chr17:48273632 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1677C>T (p.Ala559=) single nucleotide variant Osteogenesis imperfecta type I [RCV001502289] Chr17:50194033 [GRCh38]
Chr17:48271394 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3168C>T (p.Pro1056=) single nucleotide variant COL1A1-related disorder [RCV004550236]|Cardiovascular phenotype [RCV002324066]|Osteogenesis imperfecta type I [RCV001479544] Chr17:50188569 [GRCh38]
Chr17:48265930 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.471+205T>C single nucleotide variant not provided [RCV001615625] Chr17:50199021 [GRCh38]
Chr17:48276382 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.918G>T (p.Leu306=) single nucleotide variant Cardiovascular phenotype [RCV002377835]|Osteogenesis imperfecta type I [RCV001486661] Chr17:50196353 [GRCh38]
Chr17:48273714 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3900G>A (p.Val1300=) single nucleotide variant Cardiovascular phenotype [RCV004611837]|Osteogenesis imperfecta type I [RCV001496319] Chr17:50186422 [GRCh38]
Chr17:48263783 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.544-24C>T single nucleotide variant not provided [RCV001528100] Chr17:50198229 [GRCh38]
Chr17:48275590 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-166A>C single nucleotide variant not provided [RCV001715412] Chr17:50197399 [GRCh38]
Chr17:48274760 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.33C>T (p.Leu11=) single nucleotide variant Cardiovascular phenotype [RCV002456841]|Osteogenesis imperfecta type I [RCV001480954] Chr17:50201481 [GRCh38]
Chr17:48278842 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2938-7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001463947] Chr17:50189017 [GRCh38]
Chr17:48266378 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.805-10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV001498584] Chr17:50196680 [GRCh38]
Chr17:48274041 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1347A>G (p.Gly449=) single nucleotide variant COL1A1-related disorder [RCV004551963]|Cardiovascular phenotype [RCV002386495]|Osteogenesis imperfecta type I [RCV002073048]|not provided [RCV001652985] Chr17:50195053 [GRCh38]
Chr17:48272414 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3208-32C>A single nucleotide variant not provided [RCV001688122] Chr17:50188181 [GRCh38]
Chr17:48265542 [GRCh37]
Chr17:17q21.33		 benign
NC_000017.11:g.50201979G>T single nucleotide variant not provided [RCV001530625] Chr17:50201979 [GRCh38]
Chr17:48279340 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3208-4C>A single nucleotide variant Osteogenesis imperfecta type I [RCV001454242] Chr17:50188153 [GRCh38]
Chr17:48265514 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3429C>G (p.Pro1143=) single nucleotide variant Osteogenesis imperfecta type I [RCV001416890] Chr17:50187117 [GRCh38]
Chr17:48264478 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2244T>C (p.Ala748=) single nucleotide variant Osteogenesis imperfecta type I [RCV001495588] Chr17:50190916 [GRCh38]
Chr17:48268277 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2585_2586del (p.Lys862fs) deletion Osteogenesis imperfecta type I [RCV001384849] Chr17:50189886..50189887 [GRCh38]
Chr17:48267247..48267248 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1451del (p.Pro484fs) deletion Osteogenesis imperfecta type I [RCV001388122] Chr17:50194731 [GRCh38]
Chr17:48272092 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1003G>A (p.Gly335Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001388124] Chr17:50195976 [GRCh38]
Chr17:48273337 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.993C>T (p.Ala331=) single nucleotide variant Cardiovascular phenotype [RCV002384647]|Osteogenesis imperfecta type I [RCV001431396] Chr17:50196164 [GRCh38]
Chr17:48273525 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1886del (p.Gly629fs) deletion Osteogenesis imperfecta type I [RCV001385151] Chr17:50192683 [GRCh38]
Chr17:48270044 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3255C>A (p.Gly1085=) single nucleotide variant Cardiovascular phenotype [RCV003298795]|Osteogenesis imperfecta type I [RCV001459772] Chr17:50188102 [GRCh38]
Chr17:48265463 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2355T>A (p.Gly785=) single nucleotide variant COL1A1-related disorder [RCV004550247]|Cardiovascular phenotype [RCV002449288]|Osteogenesis imperfecta type I [RCV001488395]|not provided [RCV001587433] Chr17:50190585 [GRCh38]
Chr17:48267946 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4368C>T (p.Phe1456=) single nucleotide variant Cardiovascular phenotype [RCV002329520]|Osteogenesis imperfecta type I [RCV001454168] Chr17:50185529 [GRCh38]
Chr17:48262890 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1300-12dup duplication Osteogenesis imperfecta type I [RCV001521312]|not provided [RCV001580599] Chr17:50195106..50195107 [GRCh38]
Chr17:48272467..48272468 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2235+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001381923] Chr17:50191382 [GRCh38]
Chr17:48268743 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.858+24G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001514295] Chr17:50196593 [GRCh38]
Chr17:48273954 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.4224C>T (p.Tyr1408=) single nucleotide variant COL1A1-related disorder [RCV004550242]|Cardiovascular phenotype [RCV002329581]|Osteogenesis imperfecta type I [RCV001483391] Chr17:50185802 [GRCh38]
Chr17:48263163 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3589_3590del (p.Asp1197fs) deletion Osteogenesis imperfecta type I [RCV001382246] Chr17:50186864..50186865 [GRCh38]
Chr17:48264225..48264226 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.501T>C (p.Tyr167=) single nucleotide variant Cardiovascular phenotype [RCV004995888]|Osteogenesis imperfecta type I [RCV001483628] Chr17:50198475 [GRCh38]
Chr17:48275836 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.10:g.(?_48268803)_48269354del deletion Osteogenesis imperfecta type I [RCV001385628]   pathogenic
NM_000088.4(COL1A1):c.288del (p.Asp97fs) deletion Cardiovascular phenotype [RCV002438893]|Osteogenesis imperfecta type I [RCV001389739]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002499816] Chr17:50199763 [GRCh38]
Chr17:48277124 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3222C>T (p.Pro1074=) single nucleotide variant COL1A1-related disorder [RCV004550239]|Cardiovascular phenotype [RCV004037211]|Osteogenesis imperfecta type I [RCV001480867] Chr17:50188135 [GRCh38]
Chr17:48265496 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.595C>T (p.Gln199Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001386077]|not provided [RCV001563408] Chr17:50197996 [GRCh38]
Chr17:48275357 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1804G>T (p.Gly602Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001387610]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002283548] Chr17:50193011 [GRCh38]
Chr17:48270372 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3470G>A (p.Gly1157Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001389975] Chr17:50187076 [GRCh38]
Chr17:48264437 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.334-4A>G single nucleotide variant COL1A1-related disorder [RCV004550117]|Cardiovascular phenotype [RCV002322392]|Osteogenesis imperfecta type I [RCV001401066] Chr17:50199457 [GRCh38]
Chr17:48276818 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4155G>A (p.Lys1385=) single nucleotide variant Osteogenesis imperfecta type I [RCV003108481] Chr17:50185871 [GRCh38]
Chr17:48263232 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2990dup (p.Gly998fs) duplication Osteogenesis imperfecta with normal sclerae, dominant form [RCV002244105] Chr17:50188957..50188958 [GRCh38]
Chr17:48266318..48266319 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3268C>T (p.Gln1090Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002472332]|not provided [RCV002247217] Chr17:50187977 [GRCh38]
Chr17:48265338 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2559+5G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003126321] Chr17:50189996 [GRCh38]
Chr17:48267357 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3564C>G (p.Pro1188=) single nucleotide variant Cardiovascular phenotype [RCV004992565]|Osteogenesis imperfecta type I [RCV003109205] Chr17:50186890 [GRCh38]
Chr17:48264251 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.209G>A (p.Cys70Tyr) single nucleotide variant not provided [RCV001754998] Chr17:50199842 [GRCh38]
Chr17:48277203 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp) single nucleotide variant Infantile cortical hyperostosis [RCV002248996] Chr17:50193977 [GRCh38]
Chr17:48271338 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val) single nucleotide variant Infantile cortical hyperostosis [RCV002248997] Chr17:50196500 [GRCh38]
Chr17:48273861 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) single nucleotide variant Cardiovascular phenotype [RCV003365443]|Osteogenesis imperfecta type I [RCV002032772]|not provided [RCV001756582] Chr17:50194134 [GRCh38]
Chr17:48271495 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.2090G>A (p.Arg697Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV001868436]|not provided [RCV001754861] Chr17:50191825 [GRCh38]
Chr17:48269186 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3209G>A (p.Gly1070Asp) single nucleotide variant Osteogenesis imperfecta [RCV002277761] Chr17:50188148 [GRCh38]
Chr17:48265509 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.543+2T>C single nucleotide variant Osteogenesis imperfecta [RCV002277764] Chr17:50198431 [GRCh38]
Chr17:48275792 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.3(COL1A1):c.700delG deletion Osteogenesis imperfecta [RCV002277766] Chr17:50197230 [GRCh38]
Chr17:48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.916_917del (p.Leu306fs) deletion Osteogenesis imperfecta [RCV002277768] Chr17:50196354..50196355 [GRCh38]
Chr17:48273715..48273716 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.994_1001del (p.Gly332fs) deletion Osteogenesis imperfecta [RCV002277770] Chr17:50196156..50196163 [GRCh38]
Chr17:48273517..48273524 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) single nucleotide variant Cardiovascular phenotype [RCV002449414]|not provided [RCV001760866] Chr17:50190903 [GRCh38]
Chr17:48268264 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1153G>A (p.Ala385Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002544108]|not provided [RCV001761310] Chr17:50195569 [GRCh38]
Chr17:48272930 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1745del (p.Phe582fs) deletion Osteogenesis imperfecta [RCV002277882] Chr17:50193965 [GRCh38]
Chr17:48271326 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2097del (p.Asn700fs) deletion Osteogenesis imperfecta [RCV002277887] Chr17:50191818 [GRCh38]
Chr17:48269179 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1984-6C>T single nucleotide variant COL1A1-related disorder [RCV004548258]|Ehlers-Danlos syndrome [RCV002277957] Chr17:50192030 [GRCh38]
Chr17:48269391 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) single nucleotide variant Ehlers-Danlos syndrome [RCV002277958]|Osteogenesis imperfecta type I [RCV003517363]|not provided [RCV004546716] Chr17:50190876 [GRCh38]
Chr17:48268237 [GRCh37]
Chr17:17q21.33		 benign|likely benign|uncertain significance
NM_000088.4(COL1A1):c.471+6T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001868606]|not provided [RCV001769379] Chr17:50199220 [GRCh38]
Chr17:48276581 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1057-2A>T single nucleotide variant Osteogenesis imperfecta [RCV002277875]|Osteogenesis imperfecta type I [RCV003096249] Chr17:50195667 [GRCh38]
Chr17:48273028 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1614+1G>T single nucleotide variant Osteogenesis imperfecta [RCV002277881] Chr17:50194348 [GRCh38]
Chr17:48271709 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1984-2A>C single nucleotide variant Osteogenesis imperfecta [RCV002277884] Chr17:50192026 [GRCh38]
Chr17:48269387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2074G>T (p.Gly692Cys) single nucleotide variant Osteogenesis imperfecta [RCV002277886] Chr17:50191841 [GRCh38]
Chr17:48269202 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2127G>A (p.Lys709=) single nucleotide variant Osteogenesis imperfecta [RCV002277888] Chr17:50191788 [GRCh38]
Chr17:48269149 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2525dup (p.Ala844fs) duplication Osteogenesis imperfecta [RCV002277891] Chr17:50190034..50190035 [GRCh38]
Chr17:48267395..48267396 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2560-1G>A single nucleotide variant Osteogenesis imperfecta [RCV002277892] Chr17:50189913 [GRCh38]
Chr17:48267274 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2643C>G (p.Gly881=) single nucleotide variant Cardiovascular phenotype [RCV003365725]|Osteogenesis imperfecta [RCV002277895]|Osteogenesis imperfecta type I [RCV003631235] Chr17:50189703 [GRCh38]
Chr17:48267064 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1663C>T (p.Pro555Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002277955] Chr17:50194135 [GRCh38]
Chr17:48271496 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1845G>T (p.Glu615Asp) single nucleotide variant COL1A1-related disorder [RCV004548257]|Ehlers-Danlos syndrome [RCV002277956]|Osteogenesis imperfecta type I [RCV003631236] Chr17:50192827 [GRCh38]
Chr17:48270188 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002277960] Chr17:50189864 [GRCh38]
Chr17:48267225 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2668-10C>G single nucleotide variant Ehlers-Danlos syndrome [RCV002277961] Chr17:50189548 [GRCh38]
Chr17:48266909 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.935G>A (p.Arg312His) single nucleotide variant COL1A1-related disorder [RCV004738567]|Ehlers-Danlos syndrome [RCV002277970]|Osteogenesis imperfecta type I [RCV003101585] Chr17:50196336 [GRCh38]
Chr17:48273697 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1673C>A (p.Pro558His) single nucleotide variant not provided [RCV002245122] Chr17:50194037 [GRCh38]
Chr17:48271398 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+1G>C single nucleotide variant Osteogenesis imperfecta [RCV003985853]|Osteogenesis imperfecta type I [RCV003517348]|not provided [RCV001780530] Chr17:50195566 [GRCh38]
Chr17:48272927 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.3(COL1A1):c.700dup duplication Osteogenesis imperfecta [RCV003388045]|Osteogenesis imperfecta type I [RCV003517349]|not provided [RCV001780532] Chr17:50197229..50197230 [GRCh38]
Chr17:48274590..48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.452dup (p.Pro152fs) duplication Osteogenesis imperfecta type I [RCV002273185] Chr17:50199244..50199245 [GRCh38]
Chr17:48276605..48276606 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1103G>T (p.Gly368Val) single nucleotide variant not provided [RCV001780536] Chr17:50195619 [GRCh38]
Chr17:48272980 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003517350]|not provided [RCV001780810] Chr17:50198432 [GRCh38]
Chr17:48275793 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4361T>C (p.Phe1454Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003989758]|not provided [RCV002255010] Chr17:50185536 [GRCh38]
Chr17:48262897 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.104-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003631231]|Osteogenesis imperfecta type III [RCV002250850] Chr17:50199949 [GRCh38]
Chr17:48277310 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr) single nucleotide variant not provided [RCV001758327] Chr17:50185546 [GRCh38]
Chr17:48262907 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.588+4A>G single nucleotide variant not provided [RCV001754761] Chr17:50198157 [GRCh38]
Chr17:48275518 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4199C>A (p.Ala1400Asp) single nucleotide variant not provided [RCV001767094] Chr17:50185827 [GRCh38]
Chr17:48263188 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1429C>G (p.Pro477Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003631215]|not provided [RCV001762784] Chr17:50194753 [GRCh38]
Chr17:48272114 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) single nucleotide variant Cardiovascular phenotype [RCV002425052]|Osteogenesis imperfecta type I [RCV003631219]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005023235]|not provided [RCV001758750] Chr17:50191414 [GRCh38]
Chr17:48268775 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4274C>T (p.Thr1425Ile) single nucleotide variant not provided [RCV001762944] Chr17:50185623 [GRCh38]
Chr17:48262984 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His) single nucleotide variant Osteogenesis imperfecta type I [RCV002272492]|not provided [RCV001774794] Chr17:50194431 [GRCh38]
Chr17:48271792 [GRCh37]
Chr17:17q21.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002032784]|not provided [RCV001762945] Chr17:50197024 [GRCh38]
Chr17:48274385 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3197G>A (p.Arg1066His) single nucleotide variant Osteogenesis imperfecta type I [RCV003517346]|not provided [RCV001763645] Chr17:50188540 [GRCh38]
Chr17:48265901 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4141A>G (p.Thr1381Ala) single nucleotide variant not provided [RCV001772369] Chr17:50185885 [GRCh38]
Chr17:48263246 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1019C>T (p.Ala340Val) single nucleotide variant not provided [RCV001767240] Chr17:50195960 [GRCh38]
Chr17:48273321 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2425G>A (p.Gly809Ser) single nucleotide variant not provided [RCV001786759] Chr17:50190353 [GRCh38]
Chr17:48267714 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3798C>T (p.His1266=) single nucleotide variant Cardiovascular phenotype [RCV002361042]|Osteogenesis imperfecta type I [RCV002074023]|not provided [RCV001765947] Chr17:50186656 [GRCh38]
Chr17:48264017 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3358C>T (p.Pro1120Ser) single nucleotide variant not provided [RCV001786244] Chr17:50187887 [GRCh38]
Chr17:48265248 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3022C>T (p.Pro1008Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002540579]|not provided [RCV001773212] Chr17:50188926 [GRCh38]
Chr17:48266287 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1123C>T (p.Pro375Ser) single nucleotide variant not provided [RCV001773848] Chr17:50195599 [GRCh38]
Chr17:48272960 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.210C>A (p.Cys70Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003631225]|not provided [RCV001780529] Chr17:50199841 [GRCh38]
Chr17:48277202 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3671_3683del (p.Val1224fs) deletion not provided [RCV001780534] Chr17:50186771..50186783 [GRCh38]
Chr17:48264132..48264144 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1925T>A (p.Phe642Tyr) single nucleotide variant not provided [RCV001752418] Chr17:50192644 [GRCh38]
Chr17:48270005 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala) single nucleotide variant Osteogenesis imperfecta [RCV001836654]|not provided [RCV001780809] Chr17:50187964 [GRCh38]
Chr17:48265325 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1813G>A (p.Gly605Ser) single nucleotide variant not provided [RCV001780811] Chr17:50193002 [GRCh38]
Chr17:48270363 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.61C>T (p.His21Tyr) single nucleotide variant Osteogenesis imperfecta type I [RCV003631216]|not provided [RCV001768806] Chr17:50201453 [GRCh38]
Chr17:48278814 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1072C>G (p.Gln358Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001882872]|not provided [RCV001770806] Chr17:50195650 [GRCh38]
Chr17:48273011 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.395A>G (p.Asp132Gly) single nucleotide variant COL1A1-related disorder [RCV004552010]|Osteogenesis imperfecta type I [RCV003631223]|not provided [RCV001769074] Chr17:50199302 [GRCh38]
Chr17:48276663 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001868578]|not provided [RCV001774467] Chr17:50190876 [GRCh38]
Chr17:48268237 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.1200+6T>C single nucleotide variant not provided [RCV001767097] Chr17:50195428 [GRCh38]
Chr17:48272789 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2481C>T (p.Gly827=) single nucleotide variant Cardiovascular phenotype [RCV002425057]|Osteogenesis imperfecta type I [RCV001868612]|not provided [RCV001771284] Chr17:50190079 [GRCh38]
Chr17:48267440 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.*479C>T single nucleotide variant not provided [RCV001779636] Chr17:50185023 [GRCh38]
Chr17:48262384 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1753C>T (p.Pro585Ser) single nucleotide variant not provided [RCV001816206] Chr17:50193957 [GRCh38]
Chr17:48271318 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4100C>A (p.Thr1367Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001868544]|not provided [RCV001761356] Chr17:50185926 [GRCh38]
Chr17:48263287 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1810C>G (p.Pro604Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001868541]|not provided [RCV001761289] Chr17:50193005 [GRCh38]
Chr17:48270366 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1292G>T (p.Gly431Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001808843] Chr17:50195239 [GRCh38]
Chr17:48272600 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1082_1099dup (p.Arg361_Pro366dup) duplication Osteogenesis imperfecta type III [RCV001808856] Chr17:50195622..50195623 [GRCh38]
Chr17:48272983..48272984 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.471+5G>C single nucleotide variant not provided [RCV001771365] Chr17:50199221 [GRCh38]
Chr17:48276582 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2029-1G>T single nucleotide variant Multiple epiphyseal dysplasia type 1 [RCV001806327]|Osteogenesis imperfecta, perinatal lethal [RCV002227560] Chr17:50191887 [GRCh38]
Chr17:48269248 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3014T>A (p.Leu1005Ter) single nucleotide variant Osteogenesis imperfecta [RCV001795867]|Osteogenesis imperfecta type I [RCV001868894] Chr17:50188934 [GRCh38]
Chr17:48266295 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.581G>A (p.Gly194Asp) single nucleotide variant not provided [RCV003235877] Chr17:50198168 [GRCh38]
Chr17:48275529 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2668-2A>G single nucleotide variant Osteogenesis imperfecta [RCV001795870] Chr17:50189540 [GRCh38]
Chr17:48266901 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1984-1G>T single nucleotide variant Osteogenesis imperfecta [RCV001795876] Chr17:50192025 [GRCh38]
Chr17:48269386 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.55dup (p.Leu19fs) duplication not provided [RCV001780531] Chr17:50201458..50201459 [GRCh38]
Chr17:48278819..48278820 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1561G>T (p.Gly521Ter) single nucleotide variant Osteogenesis imperfecta type III [RCV001810323]|not provided [RCV001780535] Chr17:50194402 [GRCh38]
Chr17:48271763 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2867G>C (p.Gly956Ala) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV001808052] Chr17:50189238 [GRCh38]
Chr17:48266599 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1567C>G (p.Pro523Ala) single nucleotide variant not provided [RCV001758378] Chr17:50194396 [GRCh38]
Chr17:48271757 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2599A>C (p.Ser867Arg) single nucleotide variant not provided [RCV001756809] Chr17:50189873 [GRCh38]
Chr17:48267234 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.646C>A (p.Pro216Thr) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV004555885]|not provided [RCV001758349] Chr17:50197782 [GRCh38]
Chr17:48275143 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.*1026del deletion not provided [RCV001779625] Chr17:50184476 [GRCh38]
Chr17:48261837 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1929+11A>G single nucleotide variant not provided [RCV001811752] Chr17:50192629 [GRCh38]
Chr17:48269990 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3533G>A (p.Gly1178Asp) single nucleotide variant not provided [RCV001811797] Chr17:50186921 [GRCh38]
Chr17:48264282 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1695C>T (p.Pro565=) single nucleotide variant Cardiovascular phenotype [RCV002397752]|not provided [RCV001811729] Chr17:50194015 [GRCh38]
Chr17:48271376 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2740_2741insCCCACCCCATGCACTGGCTCCAGTGCGGCTCTCATCTGGGGAGCAGGAAGACGCAG (p.Gly914fs) insertion not provided [RCV001811857] Chr17:50189465..50189466 [GRCh38]
Chr17:48266826..48266827 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4166T>C (p.Leu1389Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001806446] Chr17:50185860 [GRCh38]
Chr17:48263221 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3711_3712delinsG (p.Ser1237fs) indel Osteogenesis imperfecta type I [RCV001806309] Chr17:50186742..50186743 [GRCh38]
Chr17:48264103..48264104 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1877G>A (p.Gly626Asp) single nucleotide variant Phenylketonuria [RCV001806326] Chr17:50192692 [GRCh38]
Chr17:48270053 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.472-13_472-12del deletion Osteogenesis imperfecta type I [RCV002074158]|not provided [RCV001811818] Chr17:50198516..50198517 [GRCh38]
Chr17:48275877..48275878 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2819A>T (p.Asp940Val) single nucleotide variant COL1A1-related disorder [RCV004552028]|not provided [RCV001806576] Chr17:50189387 [GRCh38]
Chr17:48266748 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4364G>C (p.Gly1455Ala) single nucleotide variant not provided [RCV004801846] Chr17:50185533 [GRCh38]
Chr17:48262894 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1945_1953del (p.Ala649_Pro651del) deletion not provided [RCV001811758] Chr17:50192505..50192513 [GRCh38]
Chr17:48269866..48269874 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3925C>T (p.Gln1309Ter) single nucleotide variant not provided [RCV001811820] Chr17:50186397 [GRCh38]
Chr17:48263758 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3871_3883delinsGT (p.Cys1291fs) indel not provided [RCV001806904] Chr17:50186439..50186451 [GRCh38]
Chr17:48263800..48263812 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1767+4A>G single nucleotide variant not provided [RCV001811840] Chr17:50193939 [GRCh38]
Chr17:48271300 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1875T>C (p.Ala625=) single nucleotide variant Cardiovascular phenotype [RCV004607999] Chr17:50192797 [GRCh38]
Chr17:48270158 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2334T>G (p.Pro778=) single nucleotide variant Cardiovascular phenotype [RCV004608004] Chr17:50190826 [GRCh38]
Chr17:48268187 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3432del (p.Gly1145fs) deletion Osteogenesis imperfecta type I [RCV002007487] Chr17:50187114 [GRCh38]
Chr17:48264475 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3469G>A (p.Gly1157Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001986957] Chr17:50187077 [GRCh38]
Chr17:48264438 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.432del (p.Gly145fs) deletion Osteogenesis imperfecta type I [RCV001863955]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV004770234]|not provided [RCV004591599] Chr17:50199265 [GRCh38]
Chr17:48276626 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3532-3C>T single nucleotide variant Cardiovascular phenotype [RCV004612010]|Ehlers-Danlos syndrome [RCV002276940]|Osteogenesis imperfecta type I [RCV001950041]|not provided [RCV004793620] Chr17:50186925 [GRCh38]
Chr17:48264286 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1930-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001874335] Chr17:50192530 [GRCh38]
Chr17:48269891 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2558T>C (p.Ile853Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001930017] Chr17:50190002 [GRCh38]
Chr17:48267363 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.590G>T (p.Gly197Val) single nucleotide variant Osteogenesis imperfecta type I [RCV001823557]|not provided [RCV002264392] Chr17:50198001 [GRCh38]
Chr17:48275362 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.643-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001823795] Chr17:50197786 [GRCh38]
Chr17:48275147 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.698G>A (p.Gly233Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001988650] Chr17:50197232 [GRCh38]
Chr17:48274593 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.367A>G (p.Arg123Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV001896850] Chr17:50199420 [GRCh38]
Chr17:48276781 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.758G>A (p.Arg253Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV001987698] Chr17:50197056 [GRCh38]
Chr17:48274417 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1588G>T (p.Gly530Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001914424] Chr17:50194375 [GRCh38]
Chr17:48271736 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.380del (p.Gly127fs) deletion Osteogenesis imperfecta type I [RCV001950624] Chr17:50199317 [GRCh38]
Chr17:48276678 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=) single nucleotide variant Osteogenesis imperfecta type I [RCV001873932] Chr17:50191866 [GRCh38]
Chr17:48269227 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.589-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001874377] Chr17:50198004 [GRCh38]
Chr17:48275365 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3423_3423+1del deletion Osteogenesis imperfecta type I [RCV001946975] Chr17:50187483..50187484 [GRCh38]
Chr17:48264844..48264845 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3965G>C (p.Arg1322Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001927321] Chr17:50186357 [GRCh38]
Chr17:48263718 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3917G>C (p.Ser1306Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001872081] Chr17:50186405 [GRCh38]
Chr17:48263766 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1018del (p.Ala340fs) deletion Osteogenesis imperfecta type I [RCV002007623] Chr17:50195961 [GRCh38]
Chr17:48273322 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1378C>T (p.Pro460Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001964760] Chr17:50194804 [GRCh38]
Chr17:48272165 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48267381)_(48276680_?)dup duplication Osteogenesis imperfecta type I [RCV001949695] Chr17:48267381..48276680 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.779G>A (p.Gly260Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001890294]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002250781] Chr17:50197035 [GRCh38]
Chr17:48274396 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.703G>A (p.Ala235Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001914150] Chr17:50197227 [GRCh38]
Chr17:48274588 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2608C>G (p.Pro870Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001909153]|not provided [RCV002265043] Chr17:50189864 [GRCh38]
Chr17:48267225 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2489G>A (p.Gly830Asp) single nucleotide variant Osteogenesis imperfecta [RCV002276975]|Osteogenesis imperfecta type I [RCV002008660] Chr17:50190071 [GRCh38]
Chr17:48267432 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.769G>C (p.Gly257Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002007244] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3023C>G (p.Pro1008Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001986142] Chr17:50188925 [GRCh38]
Chr17:48266286 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2045del (p.Pro682fs) deletion Osteogenesis imperfecta [RCV001836667] Chr17:50191870 [GRCh38]
Chr17:48269231 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.436C>G (p.Pro146Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001945398]|not provided [RCV004728936] Chr17:50199261 [GRCh38]
Chr17:48276622 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) single nucleotide variant Cardiovascular phenotype [RCV002458668]|Osteogenesis imperfecta type I [RCV001872244] Chr17:50190554 [GRCh38]
Chr17:48267915 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3727G>A (p.Glu1243Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV002042313]|not provided [RCV002463046] Chr17:50186727 [GRCh38]
Chr17:48264088 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.76G>A (p.Gly26Ser) single nucleotide variant Cardiovascular phenotype [RCV004996095]|Osteogenesis imperfecta type I [RCV001909334] Chr17:50201438 [GRCh38]
Chr17:48278799 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3855T>A (p.Asp1285Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001946768] Chr17:50186467 [GRCh38]
Chr17:48263828 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001927461] Chr17:50189427 [GRCh38]
Chr17:48266788 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NC_000017.10:g.(?_48262863)_(48277328_?)dup duplication Osteogenesis imperfecta type I [RCV001983713] Chr17:48262863..48277328 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NC_000017.10:g.(?_48266109)_(48266435_?)del deletion Osteogenesis imperfecta type I [RCV001946809] Chr17:48266109..48266435 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1559A>G (p.Lys520Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001968015] Chr17:50194404 [GRCh38]
Chr17:48271765 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4340T>G (p.Val1447Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV002004227] Chr17:50185557 [GRCh38]
Chr17:48262918 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.333+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001891906] Chr17:50199555 [GRCh38]
Chr17:48276916 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu) single nucleotide variant COL1A1-related disorder [RCV004552047]|Osteogenesis imperfecta [RCV001836665] Chr17:50189893 [GRCh38]
Chr17:48267254 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.78C>T (p.Gly26=) single nucleotide variant Osteogenesis imperfecta type I [RCV002002731] Chr17:50201436 [GRCh38]
Chr17:48278797 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3009del (p.Gly1004fs) deletion Osteogenesis imperfecta [RCV002276920]|Osteogenesis imperfecta type I [RCV001892165] Chr17:50188939 [GRCh38]
Chr17:48266300 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.110C>G (p.Pro37Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002006509] Chr17:50199941 [GRCh38]
Chr17:48277302 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4189G>T (p.Glu1397Ter) single nucleotide variant Osteogenesis imperfecta [RCV001824089] Chr17:50185837 [GRCh38]
Chr17:48263198 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1200+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV001872449] Chr17:50195432 [GRCh38]
Chr17:48272793 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3331C>T (p.Arg1111Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001947683]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005023447] Chr17:50187914 [GRCh38]
Chr17:48265275 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2559+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001872894]|not provided [RCV005005324] Chr17:50189996 [GRCh38]
Chr17:48267357 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001894604] Chr17:50197731 [GRCh38]
Chr17:48275092 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.859G>A (p.Gly287Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002007540] Chr17:50196528 [GRCh38]
Chr17:48273889 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1847del (p.Ala616fs) deletion Osteogenesis imperfecta type I [RCV001946780] Chr17:50192825 [GRCh38]
Chr17:48270186 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1284_1291dup (p.Gly431fs) duplication Osteogenesis imperfecta type I [RCV001947880] Chr17:50195239..50195240 [GRCh38]
Chr17:48272600..48272601 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2451+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001948489] Chr17:50190322 [GRCh38]
Chr17:48267683 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1984-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV001987245] Chr17:50192026 [GRCh38]
Chr17:48269387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4030G>C (p.Asp1344His) single nucleotide variant Osteogenesis imperfecta type I [RCV002020755] Chr17:50185996 [GRCh38]
Chr17:48263357 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.697-2_697-1del deletion Osteogenesis imperfecta type I [RCV001948547]|not provided [RCV004816777] Chr17:50197234..50197235 [GRCh38]
Chr17:48274595..48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV002024140]|not provided [RCV005051949] Chr17:50186017 [GRCh38]
Chr17:48263378 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) single nucleotide variant Ehlers-Danlos syndrome [RCV002276945]|Osteogenesis imperfecta type I [RCV001946395]|not provided [RCV004694009] Chr17:50199561 [GRCh38]
Chr17:48276922 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3877dup (p.Met1293fs) duplication Osteogenesis imperfecta type I [RCV001910530] Chr17:50186444..50186445 [GRCh38]
Chr17:48263805..48263806 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.399C>T (p.Gly133=) single nucleotide variant Cardiovascular phenotype [RCV004612011]|Osteogenesis imperfecta type I [RCV001967483] Chr17:50199298 [GRCh38]
Chr17:48276659 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2054G>A (p.Arg685His) single nucleotide variant Osteogenesis imperfecta type I [RCV001926734] Chr17:50191861 [GRCh38]
Chr17:48269222 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2200G>A (p.Gly734Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001913480] Chr17:50191418 [GRCh38]
Chr17:48268779 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1515+16G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001908689] Chr17:50194557 [GRCh38]
Chr17:48271918 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4120G>A (p.Val1374Met) single nucleotide variant Osteogenesis imperfecta type I [RCV001908815] Chr17:50185906 [GRCh38]
Chr17:48263267 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3023C>T (p.Pro1008Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001985041]|not provided [RCV002265049] Chr17:50188925 [GRCh38]
Chr17:48266286 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2831delG deletion Osteogenesis imperfecta [RCV001836666]|Osteogenesis imperfecta type I [RCV001869840] Chr17:50189274 [GRCh38]
Chr17:48266635 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.597dup (p.Gly200fs) duplication Osteogenesis imperfecta type I [RCV001970081] Chr17:50197993..50197994 [GRCh38]
Chr17:48275354..48275355 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV001822978] Chr17:50191859 [GRCh38]
Chr17:48269220 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.298+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001983866] Chr17:50199752 [GRCh38]
Chr17:48277113 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4258G>A (p.Gly1420Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002022866] Chr17:50185639 [GRCh38]
Chr17:48263000 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2910_2911del (p.Gly971fs) microsatellite Osteogenesis imperfecta type I [RCV001927220] Chr17:50189194..50189195 [GRCh38]
Chr17:48266555..48266556 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2667+1_2667+2del deletion Osteogenesis imperfecta type I [RCV002021934] Chr17:50189677..50189678 [GRCh38]
Chr17:48267038..48267039 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NC_000017.10:g.(?_48272388)_(48278874_?)del deletion Osteogenesis imperfecta type I [RCV001872273] Chr17:48272388..48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2289del (p.Gly764fs) deletion Osteogenesis imperfecta type I [RCV001946783] Chr17:50190871 [GRCh38]
Chr17:48268232 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3610C>A (p.Pro1204Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001911832] Chr17:50186844 [GRCh38]
Chr17:48264205 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.295_298+4dup duplication Osteogenesis imperfecta type I [RCV001912444] Chr17:50199748..50199749 [GRCh38]
Chr17:48277109..48277110 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.796G>A (p.Gly266Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001946807]|not provided [RCV004720990] Chr17:50197018 [GRCh38]
Chr17:48274379 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1426_1427dup (p.Pro477fs) duplication Osteogenesis imperfecta type I [RCV001893320] Chr17:50194754..50194755 [GRCh38]
Chr17:48272115..48272116 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3638del (p.Gly1213fs) deletion Osteogenesis imperfecta type I [RCV001948462] Chr17:50186816 [GRCh38]
Chr17:48264177 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.92_93insG (p.Asp32fs) insertion Osteogenesis imperfecta type I [RCV001948468] Chr17:50201421..50201422 [GRCh38]
Chr17:48278782..48278783 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3008dup (p.Gly1004fs) duplication Osteogenesis imperfecta type I [RCV001948473] Chr17:50188939..50188940 [GRCh38]
Chr17:48266300..48266301 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1860del (p.Pro622fs) deletion Osteogenesis imperfecta type I [RCV001909749] Chr17:50192812 [GRCh38]
Chr17:48270173 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1768-20C>G single nucleotide variant Osteogenesis imperfecta type I [RCV001966106] Chr17:50193067 [GRCh38]
Chr17:48270428 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3982G>A (p.Glu1328Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV001889517] Chr17:50186340 [GRCh38]
Chr17:48263701 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1444G>A (p.Gly482Arg) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV005014687]|not provided [RCV001840852] Chr17:50194738 [GRCh38]
Chr17:48272099 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1139G>C (p.Gly380Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001891568] Chr17:50195583 [GRCh38]
Chr17:48272944 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1865dup (p.Gly623fs) duplication Osteogenesis imperfecta type I [RCV001946600] Chr17:50192806..50192807 [GRCh38]
Chr17:48270167..48270168 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.577C>G (p.Pro193Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001910301] Chr17:50198172 [GRCh38]
Chr17:48275533 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4183G>A (p.Glu1395Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV001945487] Chr17:50185843 [GRCh38]
Chr17:48263204 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NC_000017.10:g.(?_48271690)_(48277328_?)dup duplication Osteogenesis imperfecta type I [RCV001983708] Chr17:48271690..48277328 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly) single nucleotide variant Osteogenesis imperfecta [RCV001836664] Chr17:50186451 [GRCh38]
Chr17:48263812 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4174G>A (p.Gly1392Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002020282] Chr17:50185852 [GRCh38]
Chr17:48263213 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.146_147del (p.Asp49fs) deletion Osteogenesis imperfecta type I [RCV001963267] Chr17:50199904..50199905 [GRCh38]
Chr17:48277265..48277266 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.121G>A (p.Val41Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001917749] Chr17:50199930 [GRCh38]
Chr17:48277291 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48267020)_(48278874_?)dup duplication Osteogenesis imperfecta type I [RCV001975238] Chr17:48267020..48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1270_1271insT (p.Gly424fs) insertion Osteogenesis imperfecta type I [RCV001958867] Chr17:50195260..50195261 [GRCh38]
Chr17:48272621..48272622 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3640C>T (p.Arg1214Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002001174] Chr17:50186814 [GRCh38]
Chr17:48264175 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.432_458del (p.143PPG[1]) deletion Osteogenesis imperfecta type I [RCV001943973] Chr17:50199239..50199265 [GRCh38]
Chr17:48276600..48276626 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1778G>C (p.Gly593Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001982320] Chr17:50193037 [GRCh38]
Chr17:48270398 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1A>C (p.Met1Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001972749] Chr17:50201513 [GRCh38]
Chr17:48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.52_53insA (p.Leu18fs) insertion Osteogenesis imperfecta type I [RCV001941828] Chr17:50201461..50201462 [GRCh38]
Chr17:48278822..48278823 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2614-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001962897] Chr17:50189734 [GRCh38]
Chr17:48267095 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.607G>C (p.Gly203Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001888079]|not provided [RCV003136207] Chr17:50197984 [GRCh38]
Chr17:48275345 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3261del (p.Gly1088fs) deletion Osteogenesis imperfecta type I [RCV001944719] Chr17:50188096 [GRCh38]
Chr17:48265457 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.351T>C (p.Thr117=) single nucleotide variant Osteogenesis imperfecta type I [RCV001941865] Chr17:50199436 [GRCh38]
Chr17:48276797 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.11:g.50194829del deletion Osteogenesis imperfecta type I [RCV001999858] Chr17:50194827 [GRCh38]
Chr17:48272188 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.874C>T (p.Pro292Ser) single nucleotide variant Cardiovascular phenotype [RCV004996139]|Osteogenesis imperfecta type I [RCV001941407] Chr17:50196513 [GRCh38]
Chr17:48273874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.582del (p.Ala195fs) deletion Osteogenesis imperfecta type I [RCV001962984] Chr17:50198167 [GRCh38]
Chr17:48275528 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.677dup (p.Gly227fs) duplication Osteogenesis imperfecta type I [RCV001963005] Chr17:50197750..50197751 [GRCh38]
Chr17:48275111..48275112 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2026A>T (p.Arg676Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002035317] Chr17:50191982 [GRCh38]
Chr17:48269343 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.370-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001932711] Chr17:50199328 [GRCh38]
Chr17:48276689 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001886721]|not provided [RCV003156356] Chr17:50186789 [GRCh38]
Chr17:48264150 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.370-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001941981] Chr17:50199328 [GRCh38]
Chr17:48276689 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001887796]|not provided [RCV004584928] Chr17:50198432 [GRCh38]
Chr17:48275793 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3814+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001931600] Chr17:50186638 [GRCh38]
Chr17:48263999 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1756A>G (p.Lys586Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001921079] Chr17:50193954 [GRCh38]
Chr17:48271315 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2276A>C (p.Lys759Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002018204] Chr17:50190884 [GRCh38]
Chr17:48268245 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3459T>G (p.Asp1153Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001887822] Chr17:50187087 [GRCh38]
Chr17:48264448 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1667C>T (p.Pro556Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001977303] Chr17:50194131 [GRCh38]
Chr17:48271492 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.979G>T (p.Ala327Ser) single nucleotide variant Osteogenesis imperfecta [RCV002276923]|Osteogenesis imperfecta type I [RCV001886901] Chr17:50196178 [GRCh38]
Chr17:48273539 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3903C>A (p.Tyr1301Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002000039] Chr17:50186419 [GRCh38]
Chr17:48263780 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1471G>A (p.Gly491Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001942481] Chr17:50194617 [GRCh38]
Chr17:48271978 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3535C>A (p.Pro1179Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001888252] Chr17:50186919 [GRCh38]
Chr17:48264280 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) single nucleotide variant Cardiovascular phenotype [RCV002425419]|Osteogenesis imperfecta type I [RCV002026211] Chr17:50190096 [GRCh38]
Chr17:48267457 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.652G>T (p.Gly218Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001941513] Chr17:50197776 [GRCh38]
Chr17:48275137 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.878del (p.Gly293fs) deletion Osteogenesis imperfecta type I [RCV001962134] Chr17:50196509 [GRCh38]
Chr17:48273870 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2400_2409delinsGAAAGGGGAAGAGGGGAGGATTAGCGAGAAGAGGGACAGATCCCAGAGAGAAGGAGAGATGCTGA (p.Asp801fs) indel Osteogenesis imperfecta type I [RCV001941521] Chr17:50190369..50190378 [GRCh38]
Chr17:48267730..48267739 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2305A>T (p.Ile769Phe) single nucleotide variant Osteogenesis imperfecta type I [RCV001979644] Chr17:50190855 [GRCh38]
Chr17:48268216 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2028+3_2028+20del deletion Osteogenesis imperfecta type I [RCV001940033] Chr17:50191960..50191977 [GRCh38]
Chr17:48269321..48269338 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1922G>C (p.Gly641Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002047521] Chr17:50192647 [GRCh38]
Chr17:48270008 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.268G>T (p.Glu90Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001956530] Chr17:50199783 [GRCh38]
Chr17:48277144 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3304C>T (p.Gln1102Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV001888800] Chr17:50187941 [GRCh38]
Chr17:48265302 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) single nucleotide variant Cardiovascular phenotype [RCV002361290]|Osteogenesis imperfecta type I [RCV001996834] Chr17:50197963 [GRCh38]
Chr17:48275324 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.183C>G (p.Cys61Trp) single nucleotide variant Osteogenesis imperfecta type I [RCV001901289] Chr17:50199868 [GRCh38]
Chr17:48277229 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.2552G>C (p.Gly851Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001939495] Chr17:50190008 [GRCh38]
Chr17:48267369 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1178_1179insCCTTTA (p.Gln393delinsHisLeuTer) insertion Osteogenesis imperfecta type I [RCV002000134] Chr17:50195455..50195456 [GRCh38]
Chr17:48272816..48272817 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3814+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV001958947] Chr17:50186639 [GRCh38]
Chr17:48264000 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.333G>A (p.Glu111=) single nucleotide variant Osteogenesis imperfecta type I [RCV002000147] Chr17:50199556 [GRCh38]
Chr17:48276917 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1876-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV001952620]|not provided [RCV004699566] Chr17:50192695 [GRCh38]
Chr17:48270056 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.913G>A (p.Gly305Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001941098] Chr17:50196358 [GRCh38]
Chr17:48273719 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.984del (p.Gly329fs) deletion Osteogenesis imperfecta type I [RCV001941716] Chr17:50196173 [GRCh38]
Chr17:48273534 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1269dup (p.Gly424fs) duplication Osteogenesis imperfecta type I [RCV001887151] Chr17:50195261..50195262 [GRCh38]
Chr17:48272622..48272623 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2667+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001941735] Chr17:50189678 [GRCh38]
Chr17:48267039 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1056+3G>A single nucleotide variant COL1A1-related disorder [RCV004552072]|Cardiovascular phenotype [RCV002397824]|Osteogenesis imperfecta type I [RCV001888412] Chr17:50195920 [GRCh38]
Chr17:48273281 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3152C>T (p.Pro1051Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001905363] Chr17:50188585 [GRCh38]
Chr17:48265946 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.650T>C (p.Met217Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002029428] Chr17:50197778 [GRCh38]
Chr17:48275139 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.447TCCCGGACC[3] (p.143PPG[6]) microsatellite Osteogenesis imperfecta type I [RCV002029284] Chr17:50199241..50199242 [GRCh38]
Chr17:48276602..48276603 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.176G>C (p.Arg59Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001995658] Chr17:50199875 [GRCh38]
Chr17:48277236 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.788G>A (p.Gly263Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV001867411] Chr17:50197026 [GRCh38]
Chr17:48274387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2629C>T (p.Pro877Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002029795] Chr17:50189717 [GRCh38]
Chr17:48267078 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3207+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV001994472] Chr17:50188528 [GRCh38]
Chr17:48265889 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.454C>A (p.Pro152Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV001933906]|not provided [RCV004820221] Chr17:50199243 [GRCh38]
Chr17:48276604 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.625G>A (p.Gly209Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001993859] Chr17:50197966 [GRCh38]
Chr17:48275327 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1945G>A (p.Ala649Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002027175] Chr17:50192513 [GRCh38]
Chr17:48269874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.588+1G>A single nucleotide variant Osteogenesis imperfecta [RCV002276952]|Osteogenesis imperfecta type I [RCV001994477] Chr17:50198160 [GRCh38]
Chr17:48275521 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.668C>G (p.Pro223Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002031612] Chr17:50197760 [GRCh38]
Chr17:48275121 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.471+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002030041] Chr17:50199221 [GRCh38]
Chr17:48276582 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.326G>A (p.Gly109Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002276929]|Osteogenesis imperfecta type I [RCV001920830]|not provided [RCV004693955] Chr17:50199563 [GRCh38]
Chr17:48276924 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2451T>C (p.Pro817=) single nucleotide variant Cardiovascular phenotype [RCV004044708]|Osteogenesis imperfecta type I [RCV001995170]|not provided [RCV003426271] Chr17:50190327 [GRCh38]
Chr17:48267688 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2151_2154dup (p.Gly719fs) duplication Osteogenesis imperfecta type I [RCV001922582] Chr17:50191463..50191464 [GRCh38]
Chr17:48268824..48268825 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2668-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001879067] Chr17:50189539 [GRCh38]
Chr17:48266900 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3641G>A (p.Arg1214His) single nucleotide variant Osteogenesis imperfecta type I [RCV001971853] Chr17:50186813 [GRCh38]
Chr17:48264174 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1155+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV001930294] Chr17:50195566 [GRCh38]
Chr17:48272927 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1667del (p.Pro556fs) deletion Osteogenesis imperfecta type I [RCV001931651]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002503654] Chr17:50194131 [GRCh38]
Chr17:48271492 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.196G>A (p.Gly66Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001879379] Chr17:50199855 [GRCh38]
Chr17:48277216 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1207C>G (p.Pro403Ala) single nucleotide variant Cardiovascular phenotype [RCV004990548]|Osteogenesis imperfecta type I [RCV002015198]|not provided [RCV003738124] Chr17:50195324 [GRCh38]
Chr17:48272685 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2159del (p.Ser720fs) deletion Osteogenesis imperfecta type I [RCV001950937] Chr17:50191459 [GRCh38]
Chr17:48268820 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3494dup (p.Gly1166fs) duplication Osteogenesis imperfecta type I [RCV002047303] Chr17:50187051..50187052 [GRCh38]
Chr17:48264412..48264413 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1380T>A (p.Pro460=) single nucleotide variant Osteogenesis imperfecta type I [RCV001866524] Chr17:50194802 [GRCh38]
Chr17:48272163 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1398_1410del (p.Gly467fs) deletion Osteogenesis imperfecta type I [RCV001932988] Chr17:50194772..50194784 [GRCh38]
Chr17:48272133..48272145 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1211dup (p.Ile405fs) duplication Osteogenesis imperfecta type I [RCV001956086] Chr17:50195319..50195320 [GRCh38]
Chr17:48272680..48272681 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4228G>A (p.Val1410Ile) single nucleotide variant Cardiovascular phenotype [RCV004045270]|Osteogenesis imperfecta type I [RCV001977069] Chr17:50185798 [GRCh38]
Chr17:48263159 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1984-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001971974] Chr17:50192025 [GRCh38]
Chr17:48269386 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001971992]|not provided [RCV004762260] Chr17:50196376 [GRCh38]
Chr17:48273737 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV001934294] Chr17:50194770 [GRCh38]
Chr17:48272131 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) single nucleotide variant COL1A1-related disorder [RCV004552100]|Cardiovascular phenotype [RCV002331431]|Osteogenesis imperfecta type I [RCV001935497]|not provided [RCV003332359] Chr17:50199269 [GRCh38]
Chr17:48276630 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4192A>T (p.Ile1398Phe) single nucleotide variant Osteogenesis imperfecta type I [RCV001922724] Chr17:50185834 [GRCh38]
Chr17:48263195 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.69A>G (p.Gln23=) single nucleotide variant Osteogenesis imperfecta type I [RCV001865007] Chr17:50201445 [GRCh38]
Chr17:48278806 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.958G>T (p.Gly320Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002046149] Chr17:50196199 [GRCh38]
Chr17:48273560 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.154_163del (p.Val52fs) deletion Osteogenesis imperfecta type I [RCV001918522] Chr17:50199888..50199897 [GRCh38]
Chr17:48277249..48277258 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.325G>A (p.Gly109Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002014812]|not provided [RCV003225208] Chr17:50199564 [GRCh38]
Chr17:48276925 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1728G>A (p.Gln576=) single nucleotide variant Cardiovascular phenotype [RCV003365670]|Osteogenesis imperfecta type I [RCV002046407] Chr17:50193982 [GRCh38]
Chr17:48271343 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4335_4336del (p.Asp1446fs) deletion Osteogenesis imperfecta type I [RCV001972394] Chr17:50185561..50185562 [GRCh38]
Chr17:48262922..48262923 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.805-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002014190] Chr17:50196671 [GRCh38]
Chr17:48274032 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3G>T (p.Met1Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV001994619] Chr17:50201511 [GRCh38]
Chr17:48278872 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.931G>C (p.Gly311Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001916472] Chr17:50196340 [GRCh38]
Chr17:48273701 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4368C>G (p.Phe1456Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001933735] Chr17:50185529 [GRCh38]
Chr17:48262890 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3914C>T (p.Pro1305Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001959728] Chr17:50186408 [GRCh38]
Chr17:48263769 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.82_103+11del deletion Osteogenesis imperfecta type I [RCV002028345] Chr17:50201400..50201432 [GRCh38]
Chr17:48278761..48278793 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.401T>A (p.Ile134Asn) single nucleotide variant COL1A1-related disorder [RCV004738410]|Osteogenesis imperfecta [RCV002276919]|Osteogenesis imperfecta type I [RCV001900652] Chr17:50199296 [GRCh38]
Chr17:48276657 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.138del (p.Arg46fs) deletion Osteogenesis imperfecta type I [RCV001939139] Chr17:50199913 [GRCh38]
Chr17:48277274 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.632C>T (p.Pro211Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001957820] Chr17:50197959 [GRCh38]
Chr17:48275320 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.626G>A (p.Gly209Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001932679] Chr17:50197965 [GRCh38]
Chr17:48275326 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2530dup (p.Ala844fs) duplication Osteogenesis imperfecta type I [RCV001921667] Chr17:50190029..50190030 [GRCh38]
Chr17:48267390..48267391 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.195C>A (p.Asn65Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV001956036] Chr17:50199856 [GRCh38]
Chr17:48277217 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3207+4A>T single nucleotide variant Osteogenesis imperfecta type I [RCV001880730] Chr17:50188526 [GRCh38]
Chr17:48265887 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1614G>C (p.Lys538Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV001936333]|not provided [RCV004728959] Chr17:50194349 [GRCh38]
Chr17:48271710 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.910del (p.Arg304fs) deletion Osteogenesis imperfecta type I [RCV001939928] Chr17:50196361 [GRCh38]
Chr17:48273722 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3813T>A (p.Ser1271Arg) single nucleotide variant COL1A1-related disorder [RCV004552114]|Osteogenesis imperfecta type I [RCV001954896] Chr17:50186641 [GRCh38]
Chr17:48264002 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3269A>C (p.Gln1090Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV001881659] Chr17:50187976 [GRCh38]
Chr17:48265337 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.974A>G (p.Asp325Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV001958087] Chr17:50196183 [GRCh38]
Chr17:48273544 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4319T>C (p.Ile1440Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002048656] Chr17:50185578 [GRCh38]
Chr17:48262939 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1240G>T (p.Ala414Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV001978083] Chr17:50195291 [GRCh38]
Chr17:48272652 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001953757]|not provided [RCV002307816] Chr17:50192648 [GRCh38]
Chr17:48270009 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2095_2102del (p.Ala699fs) deletion Osteogenesis imperfecta type I [RCV001930458] Chr17:50191813..50191820 [GRCh38]
Chr17:48269174..48269181 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4343G>A (p.Gly1448Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001989180] Chr17:50185554 [GRCh38]
Chr17:48262915 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2018C>A (p.Ser673Tyr) single nucleotide variant Osteogenesis imperfecta type I [RCV001978132] Chr17:50191990 [GRCh38]
Chr17:48269351 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1065_1078del (p.Gly356fs) deletion Osteogenesis imperfecta type I [RCV001939382] Chr17:50195644..50195657 [GRCh38]
Chr17:48273005..48273018 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2829+2dup duplication Osteogenesis imperfecta type I [RCV002011212] Chr17:50189374..50189375 [GRCh38]
Chr17:48266735..48266736 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1462-3C>A single nucleotide variant COL1A1-related disorder [RCV004552062]|Osteogenesis imperfecta type I [RCV001899990] Chr17:50194629 [GRCh38]
Chr17:48271990 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48263658)_(48270428_?)del deletion Osteogenesis imperfecta type I [RCV001960681] Chr17:48263658..48270428 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1893_1894del (p.Arg631_Gly632insTer) microsatellite Osteogenesis imperfecta type I [RCV001952615] Chr17:50192675..50192676 [GRCh38]
Chr17:48270036..48270037 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50186508del deletion Osteogenesis imperfecta type I [RCV001953875] Chr17:50186507 [GRCh38]
Chr17:48263868 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.345A>T (p.Gly115=) single nucleotide variant Cardiovascular phenotype [RCV002458773]|Osteogenesis imperfecta type I [RCV001903432] Chr17:50199442 [GRCh38]
Chr17:48276803 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3262-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001974991] Chr17:50187984 [GRCh38]
Chr17:48265345 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2072C>T (p.Pro691Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001998091] Chr17:50191843 [GRCh38]
Chr17:48269204 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.430C>T (p.Pro144Ser) single nucleotide variant Cardiovascular phenotype [RCV004039840]|Osteogenesis imperfecta type I [RCV001934881] Chr17:50199267 [GRCh38]
Chr17:48276628 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) single nucleotide variant COL1A1-related disorder [RCV004552115]|Cardiovascular phenotype [RCV003382730]|Osteogenesis imperfecta type I [RCV001921352]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005016865]|not provided [RCV003235624] Chr17:50186675 [GRCh38]
Chr17:48264036 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.804+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001972748]|not provided [RCV004793656] Chr17:50197009 [GRCh38]
Chr17:48274370 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2128-16C>G single nucleotide variant Osteogenesis imperfecta type I [RCV001958793] Chr17:50191506 [GRCh38]
Chr17:48268867 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1531C>T (p.Arg511Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001938255] Chr17:50194432 [GRCh38]
Chr17:48271793 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2933C>T (p.Pro978Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002014914] Chr17:50189172 [GRCh38]
Chr17:48266533 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3045+1del deletion Osteogenesis imperfecta type I [RCV001884687] Chr17:50188902 [GRCh38]
Chr17:48266263 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1667dup (p.Gly557fs) duplication Osteogenesis imperfecta type I [RCV001939550]|not provided [RCV003490971] Chr17:50194130..50194131 [GRCh38]
Chr17:48271491..48271492 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.652G>C (p.Gly218Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV001972783] Chr17:50197776 [GRCh38]
Chr17:48275137 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4195C>T (p.Arg1399Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001904765]|not provided [RCV002292673] Chr17:50185831 [GRCh38]
Chr17:48263192 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.121G>T (p.Val41Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV001998806] Chr17:50199930 [GRCh38]
Chr17:48277291 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4066C>T (p.Arg1356Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV001982255]|not provided [RCV004728965] Chr17:50185960 [GRCh38]
Chr17:48263321 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1354-13C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002013169] Chr17:50194841 [GRCh38]
Chr17:48272202 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1767+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV001886252]|not provided [RCV003482381] Chr17:50193942 [GRCh38]
Chr17:48271303 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1897G>A (p.Glu633Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV001982349] Chr17:50192672 [GRCh38]
Chr17:48270033 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.14del (p.Val5fs) deletion Osteogenesis imperfecta type I [RCV001953677] Chr17:50201500 [GRCh38]
Chr17:48278861 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1017del (p.Ala340fs) deletion Osteogenesis imperfecta type I [RCV001956470] Chr17:50195962 [GRCh38]
Chr17:48273323 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.992C>A (p.Ala331Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV001937078] Chr17:50196165 [GRCh38]
Chr17:48273526 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48243402)_(48278874_?)dup duplication Autosomal recessive limb-girdle muscular dystrophy type 2D [RCV001879158] Chr17:48243402..48278874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3566del (p.Pro1189fs) deletion Osteogenesis imperfecta type I [RCV001972109] Chr17:50186888 [GRCh38]
Chr17:48264249 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.544-2del deletion Osteogenesis imperfecta type I [RCV002027306] Chr17:50198207 [GRCh38]
Chr17:48275568 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2947G>A (p.Gly983Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002010948] Chr17:50189001 [GRCh38]
Chr17:48266362 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1238G>C (p.Gly413Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV001867384]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV003339774] Chr17:50195293 [GRCh38]
Chr17:48272654 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.2085del (p.Arg697fs) deletion Osteogenesis imperfecta type I [RCV001994814] Chr17:50191830 [GRCh38]
Chr17:48269191 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2444G>C (p.Gly815Ala) single nucleotide variant COL1A1-related disorder [RCV004552092]|Osteogenesis imperfecta type I [RCV001918022] Chr17:50190334 [GRCh38]
Chr17:48267695 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48262945)_(48267306_?)del deletion Osteogenesis imperfecta type I [RCV001972539] Chr17:48262945..48267306 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3250del (p.Arg1084fs) deletion Osteogenesis imperfecta type I [RCV002014723] Chr17:50188107 [GRCh38]
Chr17:48265468 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1399G>A (p.Gly467Arg) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002225061] Chr17:50194783 [GRCh38]
Chr17:48272144 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4041T>C (p.Asp1347=) single nucleotide variant COL1A1-related disorder [RCV004553728]|Cardiovascular phenotype [RCV002325621]|Osteogenesis imperfecta type I [RCV002111769] Chr17:50185985 [GRCh38]
Chr17:48263346 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815-18T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002193060] Chr17:50186525 [GRCh38]
Chr17:48263886 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1201-12T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002112797] Chr17:50195342 [GRCh38]
Chr17:48272703 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002165302] Chr17:50195905 [GRCh38]
Chr17:48273266 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.783C>G (p.Leu261=) single nucleotide variant Osteogenesis imperfecta type I [RCV002073543] Chr17:50197031 [GRCh38]
Chr17:48274392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1002+15T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002148587] Chr17:50196140 [GRCh38]
Chr17:48273501 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1668+13C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002126836] Chr17:50194117 [GRCh38]
Chr17:48271478 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2452-19G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002086065] Chr17:50190127 [GRCh38]
Chr17:48267488 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.680G>A (p.Gly227Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV002086743] Chr17:50197748 [GRCh38]
Chr17:48275109 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) single nucleotide variant Cardiovascular phenotype [RCV002434508]|Osteogenesis imperfecta type I [RCV002124661] Chr17:50188948 [GRCh38]
Chr17:48266309 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2598C>G (p.Gly866=) single nucleotide variant COL1A1-related disorder [RCV004553810]|Cardiovascular phenotype [RCV004046566]|Osteogenesis imperfecta type I [RCV002124543] Chr17:50189874 [GRCh38]
Chr17:48267235 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1053T>C (p.Ala351=) single nucleotide variant Osteogenesis imperfecta type I [RCV002126196] Chr17:50195926 [GRCh38]
Chr17:48273287 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2344-11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002209653] Chr17:50190607 [GRCh38]
Chr17:48267968 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.108A>G (p.Pro36=) single nucleotide variant Osteogenesis imperfecta type I [RCV002167496] Chr17:50199943 [GRCh38]
Chr17:48277304 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1354-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002075224] Chr17:50194841 [GRCh38]
Chr17:48272202 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1155+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002188364] Chr17:50195558 [GRCh38]
Chr17:48272919 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1516-7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002091536] Chr17:50194454 [GRCh38]
Chr17:48271815 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2397+15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002087321] Chr17:50190528 [GRCh38]
Chr17:48267889 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3532-18T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002107954] Chr17:50186940 [GRCh38]
Chr17:48264301 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.958-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002107993] Chr17:50196208 [GRCh38]
Chr17:48273569 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.859-5T>C single nucleotide variant Cardiovascular phenotype [RCV002443125]|Osteogenesis imperfecta type I [RCV002190641] Chr17:50196533 [GRCh38]
Chr17:48273894 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.384C>A (p.Pro128=) single nucleotide variant Osteogenesis imperfecta type I [RCV002190549] Chr17:50199313 [GRCh38]
Chr17:48276674 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1156-18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002168199] Chr17:50195496 [GRCh38]
Chr17:48272857 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1209T>C (p.Pro403=) single nucleotide variant Cardiovascular phenotype [RCV002352922]|Osteogenesis imperfecta type I [RCV002148827] Chr17:50195322 [GRCh38]
Chr17:48272683 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.589-18T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002168347] Chr17:50198020 [GRCh38]
Chr17:48275381 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3347_3364del (p.Leu1116_Gly1121del) deletion Osteogenesis imperfecta type I [RCV002226989] Chr17:50187881..50187898 [GRCh38]
Chr17:48265242..48265259 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.369+15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002148142] Chr17:50199403 [GRCh38]
Chr17:48276764 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1983+9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002188143] Chr17:50192466 [GRCh38]
Chr17:48269827 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2343+11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002107943]|not specified [RCV004700622] Chr17:50190806 [GRCh38]
Chr17:48268167 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3424-5T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002168662] Chr17:50187127 [GRCh38]
Chr17:48264488 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.316G>T (p.Glu106Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002225154] Chr17:50199573 [GRCh38]
Chr17:48276934 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4006-20del deletion Osteogenesis imperfecta type I [RCV002169590] Chr17:50186040 [GRCh38]
Chr17:48263401 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.663T>C (p.Gly221=) single nucleotide variant COL1A1-related disorder [RCV004553738]|Cardiovascular phenotype [RCV002363609]|Osteogenesis imperfecta type I [RCV002109713] Chr17:50197765 [GRCh38]
Chr17:48275126 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3595A>G (p.Ser1199Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003517357]|not provided [RCV002226062] Chr17:50186859 [GRCh38]
Chr17:48264220 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.804+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002111180] Chr17:50197001 [GRCh38]
Chr17:48274362 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.588+15C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002206950] Chr17:50198146 [GRCh38]
Chr17:48275507 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2397+10G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002205937] Chr17:50190533 [GRCh38]
Chr17:48267894 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3814+11G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002097501] Chr17:50186629 [GRCh38]
Chr17:48263990 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2452-20C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002097725] Chr17:50190128 [GRCh38]
Chr17:48267489 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2538C>T (p.Pro846=) single nucleotide variant Cardiovascular phenotype [RCV004047122]|Osteogenesis imperfecta type I [RCV002186640] Chr17:50190022 [GRCh38]
Chr17:48267383 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3262-20T>A single nucleotide variant Osteogenesis imperfecta type I [RCV002165429] Chr17:50188003 [GRCh38]
Chr17:48265364 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1776C>T (p.Pro592=) single nucleotide variant Cardiovascular phenotype [RCV003365691]|Osteogenesis imperfecta type I [RCV002096187] Chr17:50193039 [GRCh38]
Chr17:48270400 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.804+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002211906] Chr17:50196992 [GRCh38]
Chr17:48274353 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1669-17G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002097304] Chr17:50194058 [GRCh38]
Chr17:48271419 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) single nucleotide variant COL1A1-related disorder [RCV004738527]|Cardiovascular phenotype [RCV002372899]|Ehlers-Danlos syndrome [RCV002277014]|Osteogenesis imperfecta type I [RCV002097334]|not specified [RCV003491033] Chr17:50196326 [GRCh38]
Chr17:48273687 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.156G>A (p.Val52=) single nucleotide variant Osteogenesis imperfecta type I [RCV002116748] Chr17:50199895 [GRCh38]
Chr17:48277256 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*1050del deletion not provided [RCV002211022] Chr17:50184452 [GRCh38]
Chr17:48261813 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4249-7A>C single nucleotide variant Osteogenesis imperfecta type I [RCV002167374] Chr17:50185655 [GRCh38]
Chr17:48263016 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3261+20C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002165873] Chr17:50188076 [GRCh38]
Chr17:48265437 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1804G>A (p.Gly602Arg) single nucleotide variant not provided [RCV002226063] Chr17:50193011 [GRCh38]
Chr17:48270372 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4227C>T (p.Ser1409=) single nucleotide variant Osteogenesis imperfecta type I [RCV002112852] Chr17:50185799 [GRCh38]
Chr17:48263160 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1641T>G (p.Pro547=) single nucleotide variant Cardiovascular phenotype [RCV002400340]|Osteogenesis imperfecta type I [RCV002125292] Chr17:50194157 [GRCh38]
Chr17:48271518 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.103+16T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002164936] Chr17:50201395 [GRCh38]
Chr17:48278756 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.148C>A (p.Arg50=) single nucleotide variant Osteogenesis imperfecta type I [RCV002193909] Chr17:50199903 [GRCh38]
Chr17:48277264 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4302C>T (p.Thr1434=) single nucleotide variant Cardiovascular phenotype [RCV002331814]|Osteogenesis imperfecta type I [RCV002151010] Chr17:50185595 [GRCh38]
Chr17:48262956 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1515+17G>A single nucleotide variant COL1A1-related disorder [RCV004553823]|Osteogenesis imperfecta type I [RCV002150613] Chr17:50194556 [GRCh38]
Chr17:48271917 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.370-6del deletion Osteogenesis imperfecta type I [RCV002115752] Chr17:50199333 [GRCh38]
Chr17:48276694 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2829+15A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002216099] Chr17:50189362 [GRCh38]
Chr17:48266723 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3100-18C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002092978] Chr17:50188655 [GRCh38]
Chr17:48266016 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1516-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002117415] Chr17:50194456 [GRCh38]
Chr17:48271817 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1206T>G (p.Ala402=) single nucleotide variant COL1A1-related disorder [RCV004553826]|Cardiovascular phenotype [RCV002346503]|Osteogenesis imperfecta type I [RCV002134097] Chr17:50195325 [GRCh38]
Chr17:48272686 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3124G>A (p.Ala1042Thr) single nucleotide variant COL1A1-related disorder [RCV004548208]|Osteogenesis imperfecta type I [RCV002149025] Chr17:50188613 [GRCh38]
Chr17:48265974 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3471T>G (p.Gly1157=) single nucleotide variant Osteogenesis imperfecta type I [RCV002170282] Chr17:50187075 [GRCh38]
Chr17:48264436 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2925T>C (p.Leu975=) single nucleotide variant Cardiovascular phenotype [RCV004612146]|Osteogenesis imperfecta type I [RCV002078796] Chr17:50189180 [GRCh38]
Chr17:48266541 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3100-15T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002076500] Chr17:50188652 [GRCh38]
Chr17:48266013 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.370-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002076691] Chr17:50199336 [GRCh38]
Chr17:48276697 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3370-4T>C single nucleotide variant not provided [RCV002211406] Chr17:50187541 [GRCh38]
Chr17:48264902 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1644T>A (p.Gly548=) single nucleotide variant Osteogenesis imperfecta type I [RCV002146506] Chr17:50194154 [GRCh38]
Chr17:48271515 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2236-9T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002214787]|not provided [RCV003120808] Chr17:50190933 [GRCh38]
Chr17:48268294 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2562T>C (p.Gly854=) single nucleotide variant Osteogenesis imperfecta type I [RCV002125449] Chr17:50189910 [GRCh38]
Chr17:48267271 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002094541] Chr17:50196599 [GRCh38]
Chr17:48273960 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.472-4C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002204923] Chr17:50198508 [GRCh38]
Chr17:48275869 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.441C>T (p.Pro147=) single nucleotide variant Cardiovascular phenotype [RCV004612151]|Osteogenesis imperfecta type I [RCV002150688] Chr17:50199256 [GRCh38]
Chr17:48276617 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2398-14T>A single nucleotide variant Osteogenesis imperfecta type I [RCV002153114] Chr17:50190394 [GRCh38]
Chr17:48267755 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.258C>T (p.Val86=) single nucleotide variant Cardiovascular phenotype [RCV003365676]|Osteogenesis imperfecta type I [RCV002087567] Chr17:50199793 [GRCh38]
Chr17:48277154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1300-8C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002212329] Chr17:50195108 [GRCh38]
Chr17:48272469 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.103+7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002174611]|not provided [RCV002174610] Chr17:50201404 [GRCh38]
Chr17:48278765 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1516-14C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002078585] Chr17:50194461 [GRCh38]
Chr17:48271822 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2128-5C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002149805] Chr17:50191495 [GRCh38]
Chr17:48268856 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.33C>G (p.Leu11=) single nucleotide variant Cardiovascular phenotype [RCV002454438]|Osteogenesis imperfecta type I [RCV002095872] Chr17:50201481 [GRCh38]
Chr17:48278842 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+17A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002150409] Chr17:50196600 [GRCh38]
Chr17:48273961 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.104-6T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002081509] Chr17:50199953 [GRCh38]
Chr17:48277314 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.549C>T (p.Pro183=) single nucleotide variant Cardiovascular phenotype [RCV002346518]|Osteogenesis imperfecta type I [RCV002141128] Chr17:50198200 [GRCh38]
Chr17:48275561 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1944T>C (p.Pro648=) single nucleotide variant COL1A1-related disorder [RCV004553725]|Osteogenesis imperfecta type I [RCV002104039] Chr17:50192514 [GRCh38]
Chr17:48269875 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.576C>T (p.Pro192=) single nucleotide variant Osteogenesis imperfecta type I [RCV002098254] Chr17:50198173 [GRCh38]
Chr17:48275534 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.334-5C>T single nucleotide variant Cardiovascular phenotype [RCV003161592]|Osteogenesis imperfecta type I [RCV002118307] Chr17:50199458 [GRCh38]
Chr17:48276819 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.627C>A (p.Gly209=) single nucleotide variant Cardiovascular phenotype [RCV003289454]|Osteogenesis imperfecta type I [RCV002098857] Chr17:50197964 [GRCh38]
Chr17:48275325 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.835_836delinsTCCTGCTGGTCC (p.Asp279fs) indel Osteogenesis imperfecta [RCV002221390] Chr17:50196639..50196640 [GRCh38]
Chr17:48274000..48274001 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1037C>T (p.Pro346Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003120837]|not provided [RCV002221753]   likely benign|uncertain significance
NM_000088.4(COL1A1):c.2398-4C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002120580] Chr17:50190384 [GRCh38]
Chr17:48267745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1057-20T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002136552] Chr17:50195685 [GRCh38]
Chr17:48273046 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2830-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002102777] Chr17:50189292 [GRCh38]
Chr17:48266653 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3532-6G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002155393] Chr17:50186928 [GRCh38]
Chr17:48264289 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.465C>T (p.Leu155=) single nucleotide variant Osteogenesis imperfecta type I [RCV002103060] Chr17:50199232 [GRCh38]
Chr17:48276593 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3814+19C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002142684] Chr17:50186621 [GRCh38]
Chr17:48263982 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.334-19T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002182848] Chr17:50199472 [GRCh38]
Chr17:48276833 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.299-4C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002203742]|not provided [RCV002292690] Chr17:50199594 [GRCh38]
Chr17:48276955 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser) single nucleotide variant not specified [RCV002247092] Chr17:50196503 [GRCh38]
Chr17:48273864 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1614+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002098071] Chr17:50194331 [GRCh38]
Chr17:48271692 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2382A>G (p.Gly794=) single nucleotide variant Osteogenesis imperfecta type I [RCV002163344]|not provided [RCV004763336] Chr17:50190558 [GRCh38]
Chr17:48267919 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala) single nucleotide variant Infantile cortical hyperostosis [RCV002248994] Chr17:50189713 [GRCh38]
Chr17:48267074 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.1(COL1A1):c.*1724A>T single nucleotide variant not provided [RCV003428326] Chr17:50183779 [GRCh38]
Chr17:48261140 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg) single nucleotide variant Infantile cortical hyperostosis [RCV002249374] Chr17:50195442 [GRCh38]
Chr17:48272803 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1515+15C>T single nucleotide variant COL1A1-related disorder [RCV004553799]|Osteogenesis imperfecta type I [RCV002118325] Chr17:50194558 [GRCh38]
Chr17:48271919 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1149C>T (p.Gly383=) single nucleotide variant Osteogenesis imperfecta type I [RCV002124252] Chr17:50195573 [GRCh38]
Chr17:48272934 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.414T>G (p.Pro138=) single nucleotide variant Cardiovascular phenotype [RCV002331752]|Osteogenesis imperfecta type I [RCV002120389] Chr17:50199283 [GRCh38]
Chr17:48276644 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3045+15G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002142314] Chr17:50188888 [GRCh38]
Chr17:48266249 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3262-9C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002204656] Chr17:50187992 [GRCh38]
Chr17:48265353 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1200+10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002182654] Chr17:50195424 [GRCh38]
Chr17:48272785 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.643-11A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002120159] Chr17:50197796 [GRCh38]
Chr17:48275157 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.643-9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002158350] Chr17:50197794 [GRCh38]
Chr17:48275155 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4249-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002217490] Chr17:50185661 [GRCh38]
Chr17:48263022 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+16G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002219597] Chr17:50199737 [GRCh38]
Chr17:48277098 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.104-19C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002120741] Chr17:50199966 [GRCh38]
Chr17:48277327 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1921G>T (p.Gly641Ter) single nucleotide variant not provided [RCV002222304] Chr17:50192648 [GRCh38]
Chr17:48270009 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3441T>C (p.Ala1147=) single nucleotide variant Cardiovascular phenotype [RCV002454422]|Osteogenesis imperfecta type I [RCV002081249]|not provided [RCV003738137] Chr17:50187105 [GRCh38]
Chr17:48264466 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1200+15A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002216568] Chr17:50195419 [GRCh38]
Chr17:48272780 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3100-14G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002180867] Chr17:50188651 [GRCh38]
Chr17:48266012 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.103+13C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002220705] Chr17:50201398 [GRCh38]
Chr17:48278759 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2301C>T (p.Gly767=) single nucleotide variant Cardiovascular phenotype [RCV002443122]|Osteogenesis imperfecta type I [RCV002202257] Chr17:50190859 [GRCh38]
Chr17:48268220 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.483C>G (p.Pro161=) single nucleotide variant Osteogenesis imperfecta type I [RCV002143473] Chr17:50198493 [GRCh38]
Chr17:48275854 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.643-15T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002123414] Chr17:50197800 [GRCh38]
Chr17:48275161 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1461+16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002118156] Chr17:50194705 [GRCh38]
Chr17:48272066 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2758G>A (p.Gly920Ser) single nucleotide variant Osteogenesis imperfecta [RCV002221173] Chr17:50189448 [GRCh38]
Chr17:48266809 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2559+17T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002120231] Chr17:50189984 [GRCh38]
Chr17:48267345 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4200C>T (p.Ala1400=) single nucleotide variant COL1A1-related disorder [RCV004548212]|Osteogenesis imperfecta type I [RCV002158458] Chr17:50185826 [GRCh38]
Chr17:48263187 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2127+7G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002160025] Chr17:50191781 [GRCh38]
Chr17:48269142 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4006-12C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002184002] Chr17:50186032 [GRCh38]
Chr17:48263393 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1615-16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002202393] Chr17:50194199 [GRCh38]
Chr17:48271560 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1293T>C (p.Gly431=) single nucleotide variant Osteogenesis imperfecta type I [RCV002184198] Chr17:50195238 [GRCh38]
Chr17:48272599 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1200+9C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002140389] Chr17:50195425 [GRCh38]
Chr17:48272786 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4249-14C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002142738] Chr17:50185662 [GRCh38]
Chr17:48263023 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4118G>C (p.Ser1373Thr) single nucleotide variant not provided [RCV003109984] Chr17:50185908 [GRCh38]
Chr17:48263269 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3417T>C (p.Gly1139=) single nucleotide variant Osteogenesis imperfecta type I [RCV003110759] Chr17:50187490 [GRCh38]
Chr17:48264851 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2179C>T (p.Gln727Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003112382] Chr17:50191439 [GRCh38]
Chr17:48268800 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1508G>C (p.Gly503Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003112385] Chr17:50194580 [GRCh38]
Chr17:48271941 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.590G>C (p.Gly197Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003112387] Chr17:50198001 [GRCh38]
Chr17:48275362 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.158G>A (p.Trp53Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003112388] Chr17:50199893 [GRCh38]
Chr17:48277254 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3355C>A (p.Pro1119Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003111885] Chr17:50187890 [GRCh38]
Chr17:48265251 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3365C>G (p.Pro1122Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003111994] Chr17:50187880 [GRCh38]
Chr17:48265241 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2031C>A (p.Gly677=) single nucleotide variant Osteogenesis imperfecta type I [RCV003116079] Chr17:50191884 [GRCh38]
Chr17:48269245 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2938-13_2938-10del microsatellite Osteogenesis imperfecta type I [RCV003117169] Chr17:50189020..50189023 [GRCh38]
Chr17:48266381..48266384 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2845C>G (p.Pro949Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003116554] Chr17:50189260 [GRCh38]
Chr17:48266621 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3250C>T (p.Arg1084Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003112849] Chr17:50188107 [GRCh38]
Chr17:48265468 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003517446]|not provided [RCV003120115] Chr17:50185834 [GRCh38]
Chr17:48263195 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2361C>A (p.Ser787Arg) single nucleotide variant not provided [RCV003120142] Chr17:50190579 [GRCh38]
Chr17:48267940 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2746G>C (p.Ala916Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV003121329] Chr17:50189460 [GRCh38]
Chr17:48266821 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3832C>T (p.Pro1278Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003121930] Chr17:50186490 [GRCh38]
Chr17:48263851 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2705G>A (p.Gly902Asp) single nucleotide variant not provided [RCV003120331] Chr17:50189501 [GRCh38]
Chr17:48266862 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NC_000017.10:g.(?_48068881)_(48278874_?)del deletion Osteogenesis imperfecta type I [RCV003119280]|not provided [RCV003119279] Chr17:48068881..48278874 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000017.10:g.(?_48252598)_(48277328_?)del deletion Osteogenesis imperfecta type I [RCV003119281] Chr17:48252598..48277328 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48262863)_(48278874_?)dup duplication Osteogenesis imperfecta type I [RCV003119282] Chr17:48262863..48278874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48265217)_(48278874_?)dup duplication Osteogenesis imperfecta type I [RCV003119283] Chr17:48265217..48278874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48264825)_(48278874_?)dup duplication Osteogenesis imperfecta type I [RCV003119284] Chr17:48264825..48278874 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2039G>A (p.Gly680Asp) single nucleotide variant not provided [RCV004776855] Chr17:50191876 [GRCh38]
Chr17:48269237 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4019G>A (p.Gly1340Asp) single nucleotide variant not provided [RCV003149360] Chr17:50186007 [GRCh38]
Chr17:48263368 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3898G>T (p.Val1300Leu) single nucleotide variant not provided [RCV003129432] Chr17:50186424 [GRCh38]
Chr17:48263785 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3500del (p.Pro1167fs) deletion See cases [RCV003128540] Chr17:50187046 [GRCh38]
Chr17:48264407 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3814+1G>T single nucleotide variant not provided [RCV003129133] Chr17:50186639 [GRCh38]
Chr17:48264000 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp) single nucleotide variant Infantile cortical hyperostosis [RCV002248998]|Osteogenesis imperfecta type I [RCV003631230] Chr17:50197983 [GRCh38]
Chr17:48275344 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2072del (p.Pro691fs) deletion Osteogenesis imperfecta type I [RCV002272831] Chr17:50191843 [GRCh38]
Chr17:48269204 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1891_1895del (p.Glu630_Arg631insTer) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV002251238] Chr17:50192674..50192678 [GRCh38]
Chr17:48270035..48270039 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1222G>C (p.Ala408Pro) single nucleotide variant See cases [RCV002252430] Chr17:50195309 [GRCh38]
Chr17:48272670 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2482G>A (p.Glu828Lys) single nucleotide variant COL1A1-related disorder [RCV004554052]|Osteogenesis imperfecta type I [RCV003152970] Chr17:50190078 [GRCh38]
Chr17:48267439 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.719G>A (p.Arg240His) single nucleotide variant not provided [RCV002248223] Chr17:50197211 [GRCh38]
Chr17:48274572 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.124C>A (p.Gln42Lys) single nucleotide variant not provided [RCV003152263] Chr17:50199927 [GRCh38]
Chr17:48277288 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4159G>A (p.Ala1387Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003094078]|Osteogenesis imperfecta type III [RCV002251006] Chr17:50185867 [GRCh38]
Chr17:48263228 [GRCh37]
Chr17:17q21.33		 pathogenic|uncertain significance
NM_000088.4(COL1A1):c.4056G>T (p.Leu1352=) single nucleotide variant Cardiovascular phenotype [RCV003278250] Chr17:50185970 [GRCh38]
Chr17:48263331 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1984-6C>G single nucleotide variant Osteogenesis imperfecta [RCV002277885]|Osteogenesis imperfecta type I [RCV003096250] Chr17:50192030 [GRCh38]
Chr17:48269391 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2507G>A (p.Gly836Asp) single nucleotide variant Osteogenesis imperfecta [RCV002277890] Chr17:50190053 [GRCh38]
Chr17:48267414 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2760T>A (p.Gly920=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277962] Chr17:50189446 [GRCh38]
Chr17:48266807 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3755G>C (p.Arg1252Pro) single nucleotide variant Ehlers-Danlos syndrome [RCV002277963] Chr17:50186699 [GRCh38]
Chr17:48264060 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.522A>C (p.Gly174=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277964] Chr17:50198454 [GRCh38]
Chr17:48275815 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+10C>G single nucleotide variant Ehlers-Danlos syndrome [RCV002277965] Chr17:50197722 [GRCh38]
Chr17:48275083 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.977dup (p.Ala327fs) duplication Osteogenesis imperfecta [RCV002277769] Chr17:50196179..50196180 [GRCh38]
Chr17:48273540..48273541 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1102G>T (p.Gly368Cys) single nucleotide variant Osteogenesis imperfecta [RCV002277876] Chr17:50195620 [GRCh38]
Chr17:48272981 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.839C>A (p.Ala280Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002277966] Chr17:50196636 [GRCh38]
Chr17:48273997 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.372A>T (p.Gly124=) single nucleotide variant Cardiovascular phenotype [RCV002349156] Chr17:50199325 [GRCh38]
Chr17:48276686 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4307G>A (p.Arg1436His) single nucleotide variant not provided [RCV002261577] Chr17:50185590 [GRCh38]
Chr17:48262951 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3713T>A (p.Leu1238Gln) single nucleotide variant not provided [RCV002275875] Chr17:50186741 [GRCh38]
Chr17:48264102 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1867G>A (p.Gly623Ser) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002278850] Chr17:50192805 [GRCh38]
Chr17:48270166 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4006-1G>A single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV002287870]|Osteogenesis imperfecta type I [RCV003097736] Chr17:50186021 [GRCh38]
Chr17:48263382 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2557A>C (p.Ile853Leu) single nucleotide variant Cardiovascular phenotype [RCV002434973] Chr17:50190003 [GRCh38]
Chr17:48267364 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2398-2A>G single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002264822] Chr17:50190382 [GRCh38]
Chr17:48267743 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4238A>G (p.Asp1413Gly) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002264823] Chr17:50185788 [GRCh38]
Chr17:48263149 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4332del (p.Leu1445fs) deletion Osteogenesis imperfecta type I [RCV002260953] Chr17:50185565 [GRCh38]
Chr17:48262926 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.298G>T (p.Glu100Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002266131] Chr17:50199753 [GRCh38]
Chr17:48277114 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3713del (p.Leu1238fs) deletion See cases [RCV004584545] Chr17:50186741 [GRCh38]
Chr17:48264102 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.133_134delinsG (p.Leu45fs) indel not provided [RCV002276405] Chr17:50199917..50199918 [GRCh38]
Chr17:48277278..48277279 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1002+6T>G single nucleotide variant not provided [RCV002260773] Chr17:50196149 [GRCh38]
Chr17:48273510 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.299-23_299-2del deletion Osteogenesis imperfecta [RCV002277759] Chr17:50199592..50199613 [GRCh38]
Chr17:48276953..48276974 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3003C>A (p.Gly1001=) single nucleotide variant Osteogenesis imperfecta [RCV002277760] Chr17:50188945 [GRCh38]
Chr17:48266306 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2397dup (p.Gly800fs) duplication Osteogenesis imperfecta [RCV002277889]|Osteogenesis imperfecta type I [RCV004584232]|not provided [RCV004801186] Chr17:50190542..50190543 [GRCh38]
Chr17:48267903..48267904 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2560-5T>C single nucleotide variant Ehlers-Danlos syndrome [RCV002277894]|Osteogenesis imperfecta [RCV002277893]|Osteogenesis imperfecta type I [RCV003517362] Chr17:50189917 [GRCh38]
Chr17:48267278 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1011C>T (p.Thr337=) single nucleotide variant Cardiovascular phenotype [RCV002454606]|Ehlers-Danlos syndrome [RCV002277954]|Osteogenesis imperfecta type I [RCV003101584] Chr17:50195968 [GRCh38]
Chr17:48273329 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) single nucleotide variant Cardiovascular phenotype [RCV002443290]|Ehlers-Danlos syndrome [RCV002277959]|Osteogenesis imperfecta type I [RCV003517364] Chr17:50190364 [GRCh38]
Chr17:48267725 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2336G>T (p.Gly779Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002271675] Chr17:50190824 [GRCh38]
Chr17:48268185 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1156G>A (p.Gly386Arg) single nucleotide variant Osteogenesis imperfecta [RCV002282766] Chr17:50195478 [GRCh38]
Chr17:48272839 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.387T>C (p.Pro129=) single nucleotide variant Cardiovascular phenotype [RCV002366312] Chr17:50199310 [GRCh38]
Chr17:48276671 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met) single nucleotide variant Cardiovascular phenotype [RCV002452610] Chr17:50186787 [GRCh38]
Chr17:48264148 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.404C>G (p.Pro135Arg) single nucleotide variant Osteogenesis imperfecta [RCV002277762] Chr17:50199293 [GRCh38]
Chr17:48276654 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.543+1G>C single nucleotide variant Osteogenesis imperfecta [RCV002277763] Chr17:50198432 [GRCh38]
Chr17:48275793 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.580G>C (p.Gly194Arg) single nucleotide variant Osteogenesis imperfecta [RCV002277765] Chr17:50198169 [GRCh38]
Chr17:48275530 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-1G>T single nucleotide variant Osteogenesis imperfecta [RCV002277767] Chr17:50196368 [GRCh38]
Chr17:48273729 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1296C>G (p.Asn432Lys) single nucleotide variant Ehlers-Danlos syndrome [RCV002277879]|Osteogenesis imperfecta [RCV002277878] Chr17:50195235 [GRCh38]
Chr17:48272596 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1608_1609del (p.Ala537fs) deletion Osteogenesis imperfecta [RCV002277880] Chr17:50194354..50194355 [GRCh38]
Chr17:48271715..48271716 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1948G>C (p.Gly650Arg) single nucleotide variant Osteogenesis imperfecta [RCV002277883] Chr17:50192510 [GRCh38]
Chr17:48269871 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe) single nucleotide variant not provided [RCV002286018] Chr17:50199873 [GRCh38]
Chr17:48277234 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3047G>A (p.Gly1016Glu) single nucleotide variant See cases [RCV004584562] Chr17:50188794 [GRCh38]
Chr17:48266155 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3316G>T (p.Gly1106Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002264824] Chr17:50187929 [GRCh38]
Chr17:48265290 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3531+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV002288400] Chr17:50187014 [GRCh38]
Chr17:48264375 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3082G>A (p.Gly1028Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003517473]|not provided [RCV003237229] Chr17:50188759 [GRCh38]
Chr17:48266120 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3434G>T (p.Gly1145Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002290364] Chr17:50187112 [GRCh38]
Chr17:48264473 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3621G>A (p.Glu1207=) single nucleotide variant Cardiovascular phenotype [RCV002452307] Chr17:50186833 [GRCh38]
Chr17:48264194 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1866del (p.Gly623fs) deletion COL1A1-related disorder [RCV002291371]|Osteogenesis imperfecta type I [RCV003517365] Chr17:50192806 [GRCh38]
Chr17:48270167 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3624G>A (p.Lys1208=) single nucleotide variant Cardiovascular phenotype [RCV002452324] Chr17:50186830 [GRCh38]
Chr17:48264191 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3747G>A (p.Glu1249=) single nucleotide variant Cardiovascular phenotype [RCV002349271] Chr17:50186707 [GRCh38]
Chr17:48264068 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+7G>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277967] Chr17:50196610 [GRCh38]
Chr17:48273971 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.864G>T (p.Glu288Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002277968] Chr17:50196523 [GRCh38]
Chr17:48273884 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.514del (p.Thr172fs) deletion Osteogenesis imperfecta type I [RCV002289001] Chr17:50198462 [GRCh38]
Chr17:48275823 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2049C>G (p.Gly683=) single nucleotide variant Cardiovascular phenotype [RCV002420043] Chr17:50191866 [GRCh38]
Chr17:48269227 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.529G>A (p.Val177Met) single nucleotide variant Osteogenesis imperfecta type I [RCV003517367]|not provided [RCV002293608] Chr17:50198447 [GRCh38]
Chr17:48275808 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.969A>C (p.Gly323=) single nucleotide variant Cardiovascular phenotype [RCV002387001] Chr17:50196188 [GRCh38]
Chr17:48273549 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3649C>A (p.Arg1217=) single nucleotide variant Cardiovascular phenotype [RCV002452468] Chr17:50186805 [GRCh38]
Chr17:48264166 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His) single nucleotide variant Cardiovascular phenotype [RCV002452680]|Osteogenesis imperfecta type I [RCV003631244]|not provided [RCV003481276] Chr17:50186780 [GRCh38]
Chr17:48264141 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3024C>A (p.Pro1008=) single nucleotide variant Cardiovascular phenotype [RCV002435918] Chr17:50188924 [GRCh38]
Chr17:48266285 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3594C>T (p.Phe1198=) single nucleotide variant Cardiovascular phenotype [RCV002455144]|Osteogenesis imperfecta type I [RCV003631243] Chr17:50186860 [GRCh38]
Chr17:48264221 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3765C>A (p.Pro1255=) single nucleotide variant Cardiovascular phenotype [RCV002351041] Chr17:50186689 [GRCh38]
Chr17:48264050 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3765C>T (p.Pro1255=) single nucleotide variant Cardiovascular phenotype [RCV002351045] Chr17:50186689 [GRCh38]
Chr17:48264050 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2029-5T>C single nucleotide variant Cardiovascular phenotype [RCV002419734] Chr17:50191891 [GRCh38]
Chr17:48269252 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.258C>A (p.Val86=) single nucleotide variant Cardiovascular phenotype [RCV002452884] Chr17:50199793 [GRCh38]
Chr17:48277154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3672T>C (p.Val1224=) single nucleotide variant Cardiovascular phenotype [RCV002452666] Chr17:50186782 [GRCh38]
Chr17:48264143 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1125C>A (p.Pro375=) single nucleotide variant Cardiovascular phenotype [RCV002435842] Chr17:50195597 [GRCh38]
Chr17:48272958 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2508C>A (p.Gly836=) single nucleotide variant Cardiovascular phenotype [RCV002434912]|Osteogenesis imperfecta type I [RCV003101905] Chr17:50190052 [GRCh38]
Chr17:48267413 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3559G>T (p.Gly1187Cys) single nucleotide variant Cardiovascular phenotype [RCV002454918] Chr17:50186895 [GRCh38]
Chr17:48264256 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3744A>T (p.Pro1248=) single nucleotide variant Cardiovascular phenotype [RCV002349254] Chr17:50186710 [GRCh38]
Chr17:48264071 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1951C>A (p.Pro651Thr) single nucleotide variant Cardiovascular phenotype [RCV002421548] Chr17:50192507 [GRCh38]
Chr17:48269868 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser) single nucleotide variant Cardiovascular phenotype [RCV002421555]|Osteogenesis imperfecta type I [RCV003097378] Chr17:50192507 [GRCh38]
Chr17:48269868 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg) single nucleotide variant not provided [RCV003129182] Chr17:50195460 [GRCh38]
Chr17:48272821 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2667+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003152931] Chr17:50189674 [GRCh38]
Chr17:48267035 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2783del (p.Pro928fs) deletion Osteogenesis imperfecta type I [RCV002472334] Chr17:50189423 [GRCh38]
Chr17:48266784 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2938-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002472335] Chr17:50189011 [GRCh38]
Chr17:48266372 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3880dup (p.Glu1294fs) duplication Osteogenesis imperfecta type III [RCV002472341] Chr17:50186441..50186442 [GRCh38]
Chr17:48263802..48263803 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4352_4356del (p.Asp1451fs) deletion Osteogenesis imperfecta type III [RCV002472342] Chr17:50185541..50185545 [GRCh38]
Chr17:48262902..48262906 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.730C>A (p.Arg244Ser) single nucleotide variant not provided [RCV002469750] Chr17:50197200 [GRCh38]
Chr17:48274561 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3208-19C>T single nucleotide variant not provided [RCV002475084] Chr17:50188168 [GRCh38]
Chr17:48265529 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.291del (p.Asp97fs) deletion Osteogenesis imperfecta type I [RCV002858448] Chr17:50199760 [GRCh38]
Chr17:48277121 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4183G>T (p.Glu1395Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002472337] Chr17:50185843 [GRCh38]
Chr17:48263204 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3664A>G (p.Asn1222Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003631273]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV002472339] Chr17:50186790 [GRCh38]
Chr17:48264151 [GRCh37]
Chr17:17q21.33		 likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.3119G>C (p.Gly1040Ala) single nucleotide variant Osteogenesis imperfecta type III [RCV002472340] Chr17:50188618 [GRCh38]
Chr17:48265979 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His) single nucleotide variant Osteogenesis imperfecta type I [RCV002472081] Chr17:50185528 [GRCh38]
Chr17:48262889 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3540del (p.Gly1181fs) deletion Osteogenesis imperfecta type I [RCV002470273] Chr17:50186914 [GRCh38]
Chr17:48264275 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.299-2A>G single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV002466942] Chr17:50199592 [GRCh38]
Chr17:48276953 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.316dup (p.Glu106fs) duplication Osteogenesis imperfecta type I [RCV002467485] Chr17:50199572..50199573 [GRCh38]
Chr17:48276933..48276934 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2010T>C (p.Pro670=) single nucleotide variant Cardiovascular phenotype [RCV002417353] Chr17:50191998 [GRCh38]
Chr17:48269359 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser) single nucleotide variant not provided [RCV002475080] Chr17:50194749 [GRCh38]
Chr17:48272110 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3819_3822delinsTTGATTGTGGTCCACAGGGT (p.Glu1273_Tyr1274delinsAspTer) indel Osteogenesis imperfecta type I [RCV002472089] Chr17:50186500..50186503 [GRCh38]
Chr17:48263861..48263864 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.141C>G (p.Tyr47Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002467486] Chr17:50199910 [GRCh38]
Chr17:48277271 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1811del (p.Pro604fs) deletion Osteogenesis imperfecta type I [RCV002466808] Chr17:50193004 [GRCh38]
Chr17:48270365 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.351dup (p.Gly118fs) duplication Osteogenesis imperfecta type I [RCV002468665] Chr17:50199435..50199436 [GRCh38]
Chr17:48276796..48276797 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2483_2485delinsG (p.Glu828fs) indel Osteogenesis imperfecta type I [RCV002472333] Chr17:50190075..50190077 [GRCh38]
Chr17:48267436..48267438 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3994del (p.Asp1332fs) deletion Osteogenesis imperfecta type I [RCV002472336] Chr17:50186328 [GRCh38]
Chr17:48263689 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.967G>T (p.Gly323Ter) single nucleotide variant not provided [RCV002474188] Chr17:50196190 [GRCh38]
Chr17:48273551 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=) single nucleotide variant Cardiovascular phenotype [RCV002391919]|Osteogenesis imperfecta type I [RCV003517413] Chr17:50194757 [GRCh38]
Chr17:48272118 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.4119C>T (p.Ser1373=) single nucleotide variant Cardiovascular phenotype [RCV002323463] Chr17:50185907 [GRCh38]
Chr17:48263268 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.939T>A (p.Pro313=) single nucleotide variant Cardiovascular phenotype [RCV002373885] Chr17:50196332 [GRCh38]
Chr17:48273693 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly) single nucleotide variant Cardiovascular phenotype [RCV002370833]|Osteogenesis imperfecta type I [RCV003098498] Chr17:50201443 [GRCh38]
Chr17:48278804 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4053G>A (p.Gln1351=) single nucleotide variant Cardiovascular phenotype [RCV002321310] Chr17:50185973 [GRCh38]
Chr17:48263334 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2424C>G (p.Pro808=) single nucleotide variant Cardiovascular phenotype [RCV002450421] Chr17:50190354 [GRCh38]
Chr17:48267715 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2460C>T (p.Asp820=) single nucleotide variant COL1A1-related disorder [RCV004738580]|Cardiovascular phenotype [RCV002450568]|Osteogenesis imperfecta type I [RCV003101844] Chr17:50190100 [GRCh38]
Chr17:48267461 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1145C>T (p.Ala382Val) single nucleotide variant Osteogenesis imperfecta type I [RCV002304534] Chr17:50195577 [GRCh38]
Chr17:48272938 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1629C>T (p.Ser543=) single nucleotide variant Cardiovascular phenotype [RCV002401213]|Osteogenesis imperfecta type I [RCV003121005] Chr17:50194169 [GRCh38]
Chr17:48271530 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3543C>A (p.Gly1181=) single nucleotide variant Cardiovascular phenotype [RCV002337609] Chr17:50186911 [GRCh38]
Chr17:48264272 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.486G>A (p.Gln162=) single nucleotide variant Cardiovascular phenotype [RCV002340413]|Osteogenesis imperfecta type I [RCV003517394] Chr17:50198490 [GRCh38]
Chr17:48275851 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1374A>G (p.Gly458=) single nucleotide variant Cardiovascular phenotype [RCV002383764] Chr17:50194808 [GRCh38]
Chr17:48272169 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2249C>G (p.Pro750Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002305282] Chr17:50190911 [GRCh38]
Chr17:48268272 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.21C>A (p.Leu7=) single nucleotide variant Cardiovascular phenotype [RCV002425687] Chr17:50201493 [GRCh38]
Chr17:48278854 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1884T>C (p.Ala628=) single nucleotide variant Cardiovascular phenotype [RCV002415376]|Osteogenesis imperfecta type I [RCV003097326] Chr17:50192685 [GRCh38]
Chr17:48270046 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2004C>T (p.Gly668=) single nucleotide variant Cardiovascular phenotype [RCV002417234]|Osteogenesis imperfecta type I [RCV003517427] Chr17:50192004 [GRCh38]
Chr17:48269365 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.6C>T (p.Phe2=) single nucleotide variant Cardiovascular phenotype [RCV002364773]|not provided [RCV003443043] Chr17:50201508 [GRCh38]
Chr17:48278869 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg) single nucleotide variant Cardiovascular phenotype [RCV002427997]|Osteogenesis imperfecta type I [RCV003099871]|not provided [RCV004592986] Chr17:50195272 [GRCh38]
Chr17:48272633 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=) single nucleotide variant Cardiovascular phenotype [RCV002321403]|not specified [RCV004700726] Chr17:50185964 [GRCh38]
Chr17:48263325 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4086C>A (p.Ala1362=) single nucleotide variant Cardiovascular phenotype [RCV002323151] Chr17:50185940 [GRCh38]
Chr17:48263301 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+2T>C single nucleotide variant Cardiovascular phenotype [RCV002398831]|Osteogenesis imperfecta type I [RCV003631263]|not provided [RCV005051972] Chr17:50195921 [GRCh38]
Chr17:48273282 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic|uncertain significance
NM_000088.4(COL1A1):c.1338T>A (p.Gly446=) single nucleotide variant Cardiovascular phenotype [RCV002387640] Chr17:50195062 [GRCh38]
Chr17:48272423 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.258C>G (p.Val86=) single nucleotide variant Cardiovascular phenotype [RCV002426127] Chr17:50199793 [GRCh38]
Chr17:48277154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.411G>A (p.Gln137=) single nucleotide variant Cardiovascular phenotype [RCV002323493] Chr17:50199286 [GRCh38]
Chr17:48276647 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2097C>T (p.Ala699=) single nucleotide variant Cardiovascular phenotype [RCV002424123] Chr17:50191818 [GRCh38]
Chr17:48269179 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2109C>T (p.Pro703=) single nucleotide variant Cardiovascular phenotype [RCV002424341]|Osteogenesis imperfecta type I [RCV003101059] Chr17:50191806 [GRCh38]
Chr17:48269167 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.381C>A (p.Gly127=) single nucleotide variant Cardiovascular phenotype [RCV002355305]|Osteogenesis imperfecta type I [RCV003775740] Chr17:50199316 [GRCh38]
Chr17:48276677 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4023G>A (p.Gln1341=) single nucleotide variant Cardiovascular phenotype [RCV002359502] Chr17:50186003 [GRCh38]
Chr17:48263364 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4029C>A (p.Ser1343=) single nucleotide variant Cardiovascular phenotype [RCV002359529] Chr17:50185997 [GRCh38]
Chr17:48263358 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3225C>T (p.Ala1075=) single nucleotide variant Cardiovascular phenotype [RCV002324694]|Osteogenesis imperfecta type I [RCV003517375] Chr17:50188132 [GRCh38]
Chr17:48265493 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3293A>G (p.Glu1098Gly) single nucleotide variant Cardiovascular phenotype [RCV002326171] Chr17:50187952 [GRCh38]
Chr17:48265313 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.246C>G (p.Pro82=) single nucleotide variant Cardiovascular phenotype [RCV002455535]|Osteogenesis imperfecta type I [RCV003101855] Chr17:50199805 [GRCh38]
Chr17:48277166 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.516C>A (p.Thr172=) single nucleotide variant Cardiovascular phenotype [RCV002338370]|Osteogenesis imperfecta type I [RCV003631246] Chr17:50198460 [GRCh38]
Chr17:48275821 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3327T>C (p.Gly1109=) single nucleotide variant Cardiovascular phenotype [RCV002326442]|Osteogenesis imperfecta type I [RCV003631241] Chr17:50187918 [GRCh38]
Chr17:48265279 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4248+5G>C single nucleotide variant Cardiovascular phenotype [RCV002329816] Chr17:50185773 [GRCh38]
Chr17:48263134 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3601C>T (p.Leu1201=) single nucleotide variant Cardiovascular phenotype [RCV002455219]|not provided [RCV004820242] Chr17:50186853 [GRCh38]
Chr17:48264214 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.105C>T (p.Ile35=) single nucleotide variant Cardiovascular phenotype [RCV002401854] Chr17:50199946 [GRCh38]
Chr17:48277307 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1656A>G (p.Lys552=) single nucleotide variant Cardiovascular phenotype [RCV002403731] Chr17:50194142 [GRCh38]
Chr17:48271503 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1077G>T (p.Gly359=) single nucleotide variant Cardiovascular phenotype [RCV002422024]|Osteogenesis imperfecta type I [RCV003101035]|not provided [RCV003738261] Chr17:50195645 [GRCh38]
Chr17:48273006 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.381C>G (p.Gly127=) single nucleotide variant Cardiovascular phenotype [RCV002355307] Chr17:50199316 [GRCh38]
Chr17:48276677 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2076T>C (p.Gly692=) single nucleotide variant Cardiovascular phenotype [RCV002422219]|Osteogenesis imperfecta type I [RCV003101041] Chr17:50191839 [GRCh38]
Chr17:48269200 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.876T>C (p.Pro292=) single nucleotide variant Cardiovascular phenotype [RCV002373631]|Osteogenesis imperfecta type I [RCV003100022] Chr17:50196511 [GRCh38]
Chr17:48273872 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3048G>A (p.Gly1016=) single nucleotide variant Cardiovascular phenotype [RCV002444056] Chr17:50188793 [GRCh38]
Chr17:48266154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg) single nucleotide variant Cardiovascular phenotype [RCV002363825]|Osteogenesis imperfecta type I [RCV003102434] Chr17:50186696 [GRCh38]
Chr17:48264057 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1464T>G (p.Gly488=) single nucleotide variant Cardiovascular phenotype [RCV002396800] Chr17:50194624 [GRCh38]
Chr17:48271985 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2560-5del deletion Cardiovascular phenotype [RCV002433389] Chr17:50189917 [GRCh38]
Chr17:48267278 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1056+5G>C single nucleotide variant Cardiovascular phenotype [RCV002398839] Chr17:50195918 [GRCh38]
Chr17:48273279 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3424-4C>T single nucleotide variant Cardiovascular phenotype [RCV002456970] Chr17:50187126 [GRCh38]
Chr17:48264487 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.196G>C (p.Gly66Arg) single nucleotide variant Cardiovascular phenotype [RCV002423465] Chr17:50199855 [GRCh38]
Chr17:48277216 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.252C>T (p.Ala84=) single nucleotide variant Cardiovascular phenotype [RCV002433135] Chr17:50199799 [GRCh38]
Chr17:48277160 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1822-3C>A single nucleotide variant Cardiovascular phenotype [RCV002410369] Chr17:50192853 [GRCh38]
Chr17:48270214 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.783C>T (p.Leu261=) single nucleotide variant Cardiovascular phenotype [RCV002412165]|Osteogenesis imperfecta type I [RCV003776448] Chr17:50197031 [GRCh38]
Chr17:48274392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2949C>T (p.Gly983=) single nucleotide variant Cardiovascular phenotype [RCV002440252]|Osteogenesis imperfecta type I [RCV003102907] Chr17:50188999 [GRCh38]
Chr17:48266360 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2223T>C (p.Pro741=) single nucleotide variant Cardiovascular phenotype [RCV002428112] Chr17:50191395 [GRCh38]
Chr17:48268756 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3057T>C (p.Gly1019=) single nucleotide variant Cardiovascular phenotype [RCV002444165] Chr17:50188784 [GRCh38]
Chr17:48266145 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3057T>G (p.Gly1019=) single nucleotide variant Cardiovascular phenotype [RCV002444166] Chr17:50188784 [GRCh38]
Chr17:48266145 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1170T>C (p.Ala390=) single nucleotide variant Cardiovascular phenotype [RCV002331920] Chr17:50195464 [GRCh38]
Chr17:48272825 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=) single nucleotide variant Cardiovascular phenotype [RCV002333591]|not provided [RCV004779302] Chr17:50185514 [GRCh38]
Chr17:48262875 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala) single nucleotide variant Osteogenesis imperfecta [RCV002302612] Chr17:50197983 [GRCh38]
Chr17:48275344 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr) single nucleotide variant Cardiovascular phenotype [RCV002457586]|Osteogenesis imperfecta type I [RCV003517435] Chr17:50190837 [GRCh38]
Chr17:48268198 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.4329C>T (p.Ala1443=) single nucleotide variant Cardiovascular phenotype [RCV002332085] Chr17:50185568 [GRCh38]
Chr17:48262929 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2781C>T (p.Pro927=) single nucleotide variant Cardiovascular phenotype [RCV002441310] Chr17:50189425 [GRCh38]
Chr17:48266786 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2384C>T (p.Ala795Val) single nucleotide variant Cardiovascular phenotype [RCV002457925] Chr17:50190556 [GRCh38]
Chr17:48267917 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3237C>T (p.Gly1079=) single nucleotide variant Cardiovascular phenotype [RCV002445574]|Osteogenesis imperfecta type I [RCV003102336] Chr17:50188120 [GRCh38]
Chr17:48265481 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4338C>T (p.Asp1446=) single nucleotide variant Cardiovascular phenotype [RCV002332166] Chr17:50185559 [GRCh38]
Chr17:48262920 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His) single nucleotide variant Cardiovascular phenotype [RCV002459025]|Osteogenesis imperfecta type I [RCV003631242] Chr17:50187055 [GRCh38]
Chr17:48264416 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=) single nucleotide variant Cardiovascular phenotype [RCV002337597]|Osteogenesis imperfecta type I [RCV003099552] Chr17:50186914 [GRCh38]
Chr17:48264275 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3501T>C (p.Pro1167=) single nucleotide variant Cardiovascular phenotype [RCV002337542] Chr17:50187045 [GRCh38]
Chr17:48264406 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.178A>C (p.Ile60Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002300040] Chr17:50199873 [GRCh38]
Chr17:48277234 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.330C>A (p.Val110=) single nucleotide variant Cardiovascular phenotype [RCV002326282] Chr17:50199559 [GRCh38]
Chr17:48276920 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4356G>A (p.Gln1452=) single nucleotide variant Cardiovascular phenotype [RCV002332298] Chr17:50185541 [GRCh38]
Chr17:48262902 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3078A>G (p.Arg1026=) single nucleotide variant Cardiovascular phenotype [RCV002319841] Chr17:50188763 [GRCh38]
Chr17:48266124 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser) single nucleotide variant Cardiovascular phenotype [RCV002332371]|Osteogenesis imperfecta type I [RCV003517386] Chr17:50185534 [GRCh38]
Chr17:48262895 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.186C>G (p.Val62=) single nucleotide variant Cardiovascular phenotype [RCV002415061] Chr17:50199865 [GRCh38]
Chr17:48277226 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys) single nucleotide variant Cardiovascular phenotype [RCV002421819]|Osteogenesis imperfecta type I [RCV003988008] Chr17:50191865 [GRCh38]
Chr17:48269226 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=) single nucleotide variant Cardiovascular phenotype [RCV002387731]|Osteogenesis imperfecta type I [RCV003095001] Chr17:50195059 [GRCh38]
Chr17:48272420 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.3786C>A (p.Leu1262=) single nucleotide variant Cardiovascular phenotype [RCV002363898] Chr17:50186668 [GRCh38]
Chr17:48264029 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.106C>G (p.Pro36Ala) single nucleotide variant Cardiovascular phenotype [RCV002410979] Chr17:50199945 [GRCh38]
Chr17:48277306 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2078C>T (p.Pro693Leu) single nucleotide variant Cardiovascular phenotype [RCV002422242] Chr17:50191837 [GRCh38]
Chr17:48269198 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.143A>T (p.His48Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002297960] Chr17:50199908 [GRCh38]
Chr17:48277269 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2953C>A (p.Gln985Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV002297961] Chr17:50188995 [GRCh38]
Chr17:48266356 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser) single nucleotide variant Cardiovascular phenotype [RCV002324769]|Osteogenesis imperfecta type I [RCV003631240] Chr17:50188119 [GRCh38]
Chr17:48265480 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del) deletion Cardiovascular phenotype [RCV002327708] Chr17:50185844..50185846 [GRCh38]
Chr17:48263205..48263207 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.711A>G (p.Lys237=) single nucleotide variant Cardiovascular phenotype [RCV002378316] Chr17:50197219 [GRCh38]
Chr17:48274580 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.773C>G (p.Thr258Arg) single nucleotide variant Cardiovascular phenotype [RCV002400763] Chr17:50197041 [GRCh38]
Chr17:48274402 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2772C>T (p.Pro924=) single nucleotide variant Cardiovascular phenotype [RCV002439633] Chr17:50189434 [GRCh38]
Chr17:48266795 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1098C>T (p.Pro366=) single nucleotide variant Cardiovascular phenotype [RCV002459967] Chr17:50195624 [GRCh38]
Chr17:48272985 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.780C>G (p.Gly260=) single nucleotide variant Cardiovascular phenotype [RCV002409940]|Osteogenesis imperfecta type I [RCV003631250] Chr17:50197034 [GRCh38]
Chr17:48274395 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4011G>A (p.Glu1337=) single nucleotide variant Cardiovascular phenotype [RCV002357855]|Osteogenesis imperfecta type I [RCV003094483] Chr17:50186015 [GRCh38]
Chr17:48263376 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.504T>C (p.Asp168=) single nucleotide variant Cardiovascular phenotype [RCV002335734] Chr17:50198472 [GRCh38]
Chr17:48275833 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3261C>T (p.Ala1087=) single nucleotide variant Cardiovascular phenotype [RCV002324970]|Osteogenesis imperfecta type I [RCV003120895] Chr17:50188096 [GRCh38]
Chr17:48265457 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.462C>A (p.Gly154=) single nucleotide variant Cardiovascular phenotype [RCV002342551]|Osteogenesis imperfecta type I [RCV003096384] Chr17:50199235 [GRCh38]
Chr17:48276596 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.723T>G (p.Pro241=) single nucleotide variant Cardiovascular phenotype [RCV002371064] Chr17:50197207 [GRCh38]
Chr17:48274568 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3969T>C (p.His1323=) single nucleotide variant Cardiovascular phenotype [RCV002321122]|Osteogenesis imperfecta type I [RCV003102490] Chr17:50186353 [GRCh38]
Chr17:48263714 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.197_293del (p.Gly66fs) deletion Osteogenesis imperfecta type I [RCV002862361] Chr17:50199758..50199854 [GRCh38]
Chr17:48277119..48277215 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2167G>T (p.Ala723Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003032452] Chr17:50191451 [GRCh38]
Chr17:48268812 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=) single nucleotide variant Cardiovascular phenotype [RCV003161901]|Osteogenesis imperfecta type I [RCV002614954] Chr17:50186341 [GRCh38]
Chr17:48263702 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3468C>G (p.Asn1156Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV003013620] Chr17:50187078 [GRCh38]
Chr17:48264439 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3677A>G (p.Asp1226Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV002751566]|not provided [RCV003156392] Chr17:50186777 [GRCh38]
Chr17:48264138 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1983+12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002775919] Chr17:50192463 [GRCh38]
Chr17:48269824 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3301G>A (p.Glu1101Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV003074481]|not provided [RCV003481376] Chr17:50187944 [GRCh38]
Chr17:48265305 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1517G>A (p.Gly506Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV002863357] Chr17:50194446 [GRCh38]
Chr17:48271807 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3509G>A (p.Arg1170His) single nucleotide variant Osteogenesis imperfecta type I [RCV002971301] Chr17:50187037 [GRCh38]
Chr17:48264398 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.3099+12A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003075855] Chr17:50188730 [GRCh38]
Chr17:48266091 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2570G>A (p.Gly857Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV002843653] Chr17:50189902 [GRCh38]
Chr17:48267263 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1909G>C (p.Ala637Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV002972159] Chr17:50192660 [GRCh38]
Chr17:48270021 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.562G>T (p.Gly188Cys) single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV002776568] Chr17:50198187 [GRCh38]
Chr17:48275548 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2128-15T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003097632] Chr17:50191505 [GRCh38]
Chr17:48268866 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His) single nucleotide variant Osteogenesis imperfecta type I [RCV002975654] Chr17:50193004 [GRCh38]
Chr17:48270365 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1025C>T (p.Pro342Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002908148] Chr17:50195954 [GRCh38]
Chr17:48273315 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.886G>A (p.Gly296Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003017193] Chr17:50196501 [GRCh38]
Chr17:48273862 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3256C>T (p.Pro1086Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002614913]|not provided [RCV003427573] Chr17:50188101 [GRCh38]
Chr17:48265462 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2705del (p.Gly902fs) deletion Osteogenesis imperfecta type I [RCV002881973] Chr17:50189501 [GRCh38]
Chr17:48266862 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2028+17C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002756211] Chr17:50191963 [GRCh38]
Chr17:48269324 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.880G>T (p.Glu294Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002881701] Chr17:50196507 [GRCh38]
Chr17:48273868 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln) single nucleotide variant Cardiovascular phenotype [RCV003274091]|Osteogenesis imperfecta type I [RCV002948138] Chr17:50188764 [GRCh38]
Chr17:48266125 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.953C>G (p.Pro318Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003016458] Chr17:50196318 [GRCh38]
Chr17:48273679 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2824C>T (p.Pro942Ser) single nucleotide variant not provided [RCV002511451] Chr17:50189382 [GRCh38]
Chr17:48266743 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1353+12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002726546] Chr17:50195035 [GRCh38]
Chr17:48272396 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2530G>T (p.Ala844Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003073711] Chr17:50190030 [GRCh38]
Chr17:48267391 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.11:g.50193048del deletion Osteogenesis imperfecta type I [RCV003014709] Chr17:50193046 [GRCh38]
Chr17:48270407 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2451+14C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002726662]|not specified [RCV003324046] Chr17:50190313 [GRCh38]
Chr17:48267674 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3883A>T (p.Thr1295Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003014769] Chr17:50186439 [GRCh38]
Chr17:48263800 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1605_1611del (p.Gly536fs) deletion Osteogenesis imperfecta type I [RCV002881466] Chr17:50194352..50194358 [GRCh38]
Chr17:48271713..48271719 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1354-6_1359del deletion Osteogenesis imperfecta type I [RCV002903410] Chr17:50194823..50194834 [GRCh38]
Chr17:48272184..48272195 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1A>T (p.Met1Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002994692] Chr17:50201513 [GRCh38]
Chr17:48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3300C>A (p.Gly1100=) single nucleotide variant Osteogenesis imperfecta type I [RCV002771476] Chr17:50187945 [GRCh38]
Chr17:48265306 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2877del (p.Val960fs) deletion Osteogenesis imperfecta type I [RCV002617202] Chr17:50189228 [GRCh38]
Chr17:48266589 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.344G>A (p.Gly115Glu) single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV003328127]|Osteogenesis imperfecta type I [RCV002971956] Chr17:50199443 [GRCh38]
Chr17:48276804 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4293C>T (p.Thr1431=) single nucleotide variant Osteogenesis imperfecta type I [RCV002881811] Chr17:50185604 [GRCh38]
Chr17:48262965 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1448C>A (p.Pro483His) single nucleotide variant Osteogenesis imperfecta type I [RCV002751607] Chr17:50194734 [GRCh38]
Chr17:48272095 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.774_785del (p.Ala259_Pro262del) deletion Osteogenesis imperfecta type I [RCV002991509] Chr17:50197029..50197040 [GRCh38]
Chr17:48274390..48274401 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.589-7TC[3] microsatellite Osteogenesis imperfecta type I [RCV003631275]|not provided [RCV002511875] Chr17:50198005..50198006 [GRCh38]
Chr17:48275366..48275367 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3389del (p.Gly1130fs) deletion Osteogenesis imperfecta type I [RCV002882075] Chr17:50187518 [GRCh38]
Chr17:48264879 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2781_2789dup (p.Pro930_Ala931insProGlyPro) duplication Osteogenesis imperfecta type I [RCV002861866] Chr17:50189416..50189417 [GRCh38]
Chr17:48266777..48266778 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.169C>T (p.Pro57Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003011753] Chr17:50199882 [GRCh38]
Chr17:48277243 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.751-20T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002903981] Chr17:50197083 [GRCh38]
Chr17:48274444 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.851G>A (p.Gly284Asp) single nucleotide variant COL1A1-related disorder [RCV004550335]|Osteogenesis imperfecta type I [RCV002995418] Chr17:50196624 [GRCh38]
Chr17:48273985 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.861T>A (p.Gly287=) single nucleotide variant Osteogenesis imperfecta type I [RCV003017194] Chr17:50196526 [GRCh38]
Chr17:48273887 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.642+14A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002947885] Chr17:50197935 [GRCh38]
Chr17:48275296 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.722del (p.Pro241fs) deletion Osteogenesis imperfecta type I [RCV003034874] Chr17:50197208 [GRCh38]
Chr17:48274569 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4020C>G (p.Gly1340=) single nucleotide variant Osteogenesis imperfecta type I [RCV002908387] Chr17:50186006 [GRCh38]
Chr17:48263367 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2317G>T (p.Gly773Cys) single nucleotide variant not provided [RCV002462571] Chr17:50190843 [GRCh38]
Chr17:48268204 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1783del (p.Ala595fs) deletion Osteogenesis imperfecta type I [RCV003034928] Chr17:50193032 [GRCh38]
Chr17:48270393 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3531+6T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002617696] Chr17:50187009 [GRCh38]
Chr17:48264370 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3878T>C (p.Met1293Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002690122] Chr17:50186444 [GRCh38]
Chr17:48263805 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.298+2T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003014779] Chr17:50199751 [GRCh38]
Chr17:48277112 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2344-12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002996471] Chr17:50190608 [GRCh38]
Chr17:48267969 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3377del (p.Pro1126fs) deletion Osteogenesis imperfecta type I [RCV003016291] Chr17:50187530 [GRCh38]
Chr17:48264891 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1497T>C (p.Asp499=) single nucleotide variant Osteogenesis imperfecta type I [RCV002927840] Chr17:50194591 [GRCh38]
Chr17:48271952 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1155+12del deletion Osteogenesis imperfecta type I [RCV002927841] Chr17:50195555 [GRCh38]
Chr17:48272916 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.334-15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002825433] Chr17:50199468 [GRCh38]
Chr17:48276829 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2929G>A (p.Gly977Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003039288] Chr17:50189176 [GRCh38]
Chr17:48266537 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3319A>T (p.Ile1107Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002593356] Chr17:50187926 [GRCh38]
Chr17:48265287 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4005+9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002761149] Chr17:50186308 [GRCh38]
Chr17:48263669 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.319ACC[1] (p.Thr108del) microsatellite Osteogenesis imperfecta type I [RCV003020890] Chr17:50199565..50199567 [GRCh38]
Chr17:48276926..48276928 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2451+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003054457] Chr17:50190326 [GRCh38]
Chr17:48267687 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1400G>C (p.Gly467Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003055033] Chr17:50194782 [GRCh38]
Chr17:48272143 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2544del (p.Pro850fs) deletion Osteogenesis imperfecta type I [RCV003019373] Chr17:50190016 [GRCh38]
Chr17:48267377 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2127+11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002889624] Chr17:50191777 [GRCh38]
Chr17:48269138 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3279T>G (p.Arg1093=) single nucleotide variant Osteogenesis imperfecta type I [RCV002619507] Chr17:50187966 [GRCh38]
Chr17:48265327 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1816G>A (p.Ala606Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002640460] Chr17:50192999 [GRCh38]
Chr17:48270360 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1268C>T (p.Pro423Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002592451] Chr17:50195263 [GRCh38]
Chr17:48272624 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1557del (p.Gly521fs) deletion Osteogenesis imperfecta type I [RCV002914064] Chr17:50194406 [GRCh38]
Chr17:48271767 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1290G>A (p.Lys430=) single nucleotide variant Osteogenesis imperfecta type I [RCV002696203] Chr17:50195241 [GRCh38]
Chr17:48272602 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4061T>G (p.Phe1354Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003077329] Chr17:50185965 [GRCh38]
Chr17:48263326 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3208-56_3215del deletion Osteogenesis imperfecta type I [RCV002889574] Chr17:50188142..50188205 [GRCh38]
Chr17:48265503..48265566 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3016G>T (p.Ala1006Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002591395] Chr17:50188932 [GRCh38]
Chr17:48266293 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.103+3_103+8del deletion Osteogenesis imperfecta type I [RCV002867978] Chr17:50201403..50201408 [GRCh38]
Chr17:48278764..48278769 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2235+12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002638916] Chr17:50191371 [GRCh38]
Chr17:48268732 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3275C>T (p.Pro1092Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002619467] Chr17:50187970 [GRCh38]
Chr17:48265331 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.997C>T (p.Pro333Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002949288] Chr17:50196160 [GRCh38]
Chr17:48273521 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4006-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002866780] Chr17:50186022 [GRCh38]
Chr17:48263383 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.2702C>T (p.Ala901Val) single nucleotide variant Osteogenesis imperfecta type I [RCV002659637] Chr17:50189504 [GRCh38]
Chr17:48266865 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1023_1024dup (p.Pro342fs) duplication Osteogenesis imperfecta type I [RCV002885085] Chr17:50195954..50195955 [GRCh38]
Chr17:48273315..48273316 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.273dup (p.Cys92fs) duplication Osteogenesis imperfecta type I [RCV002867450] Chr17:50199777..50199778 [GRCh38]
Chr17:48277138..48277139 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3532-14C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002885665] Chr17:50186936 [GRCh38]
Chr17:48264297 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV002998655]|not provided [RCV003146711] Chr17:50192834 [GRCh38]
Chr17:48270195 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.381C>T (p.Gly127=) single nucleotide variant Osteogenesis imperfecta type I [RCV002736405]|not provided [RCV003738285] Chr17:50199316 [GRCh38]
Chr17:48276677 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3370-13A>T single nucleotide variant Osteogenesis imperfecta type I [RCV002847090] Chr17:50187550 [GRCh38]
Chr17:48264911 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2532C>A (p.Ala844=) single nucleotide variant Osteogenesis imperfecta type I [RCV002705994] Chr17:50190028 [GRCh38]
Chr17:48267389 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4241G>T (p.Gly1414Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003019663] Chr17:50185785 [GRCh38]
Chr17:48263146 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3261+18T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002975842] Chr17:50188078 [GRCh38]
Chr17:48265439 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1871del (p.Pro624fs) deletion Osteogenesis imperfecta type I [RCV002999374] Chr17:50192801 [GRCh38]
Chr17:48270162 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3061G>A (p.Glu1021Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV002885660] Chr17:50188780 [GRCh38]
Chr17:48266141 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2128-20T>A single nucleotide variant Osteogenesis imperfecta type I [RCV002885944] Chr17:50191510 [GRCh38]
Chr17:48268871 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3812G>T (p.Ser1271Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003037896] Chr17:50186642 [GRCh38]
Chr17:48264003 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1653C>G (p.Gly551=) single nucleotide variant Osteogenesis imperfecta type I [RCV002690746] Chr17:50194145 [GRCh38]
Chr17:48271506 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1155+11C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002923508] Chr17:50195556 [GRCh38]
Chr17:48272917 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3262-15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002953102] Chr17:50187998 [GRCh38]
Chr17:48265359 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.11:g.50187123dup duplication Osteogenesis imperfecta type I [RCV002867660] Chr17:50187120..50187121 [GRCh38]
Chr17:48264481..48264482 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1032C>T (p.Gly344=) single nucleotide variant Cardiovascular phenotype [RCV003294496]|Osteogenesis imperfecta type I [RCV003080209] Chr17:50195947 [GRCh38]
Chr17:48273308 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2029-4C>A single nucleotide variant Cardiovascular phenotype [RCV004067186]|Osteogenesis imperfecta type I [RCV002952737] Chr17:50191890 [GRCh38]
Chr17:48269251 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3107G>A (p.Arg1036His) single nucleotide variant Osteogenesis imperfecta type I [RCV002927246] Chr17:50188630 [GRCh38]
Chr17:48265991 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.903+1del deletion Osteogenesis imperfecta type I [RCV003037774] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.472-13T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002847771] Chr17:50198517 [GRCh38]
Chr17:48275878 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2482G>T (p.Glu828Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002866895] Chr17:50190078 [GRCh38]
Chr17:48267439 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3370-12_3370-11insAG insertion Osteogenesis imperfecta type I [RCV002847089] Chr17:50187548..50187549 [GRCh38]
Chr17:48264909..48264910 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3668T>A (p.Val1223Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV002591748]|not provided [RCV004765678] Chr17:50186786 [GRCh38]
Chr17:48264147 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2614-20C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002866632] Chr17:50189752 [GRCh38]
Chr17:48267113 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2922T>C (p.Gly974=) single nucleotide variant Osteogenesis imperfecta type I [RCV002867790] Chr17:50189183 [GRCh38]
Chr17:48266544 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.333+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002847588] Chr17:50199555 [GRCh38]
Chr17:48276916 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4248+17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002662390] Chr17:50185761 [GRCh38]
Chr17:48263122 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3189del (p.Ser1063fs) deletion Osteogenesis imperfecta type I [RCV003019867] Chr17:50188548 [GRCh38]
Chr17:48265909 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2028+17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002569463] Chr17:50191963 [GRCh38]
Chr17:48269324 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2089del (p.Arg697fs) deletion Osteogenesis imperfecta type I [RCV002867605] Chr17:50191826 [GRCh38]
Chr17:48269187 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1516-6A>C single nucleotide variant Osteogenesis imperfecta type I [RCV002592072] Chr17:50194453 [GRCh38]
Chr17:48271814 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.436C>T (p.Pro146Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002927536]|not provided [RCV004786773] Chr17:50199261 [GRCh38]
Chr17:48276622 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.766C>T (p.Pro256Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002976246] Chr17:50197048 [GRCh38]
Chr17:48274409 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3126_3130dup (p.Pro1044fs) duplication Osteogenesis imperfecta type I [RCV002846292] Chr17:50188606..50188607 [GRCh38]
Chr17:48265967..48265968 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1822-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003021543] Chr17:50192851 [GRCh38]
Chr17:48270212 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=) single nucleotide variant Cardiovascular phenotype [RCV003161941]|Osteogenesis imperfecta type I [RCV002592108] Chr17:50185574 [GRCh38]
Chr17:48262935 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.224G>T (p.Cys75Phe) single nucleotide variant Osteogenesis imperfecta type I [RCV002823739] Chr17:50199827 [GRCh38]
Chr17:48277188 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.903+12C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002761534] Chr17:50196472 [GRCh38]
Chr17:48273833 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2974G>A (p.Gly992Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002866798] Chr17:50188974 [GRCh38]
Chr17:48266335 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2180A>G (p.Gln727Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002592350] Chr17:50191438 [GRCh38]
Chr17:48268799 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2816del (p.Ala939fs) deletion Osteogenesis imperfecta type I [RCV003036110] Chr17:50189390 [GRCh38]
Chr17:48266751 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2559+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003041316]|not provided [RCV003332400] Chr17:50190000 [GRCh38]
Chr17:48267361 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1515+19dup duplication Osteogenesis imperfecta type I [RCV002625013] Chr17:50194553..50194554 [GRCh38]
Chr17:48271914..48271915 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2020G>T (p.Gly674Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002876664] Chr17:50191988 [GRCh38]
Chr17:48269349 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2938-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002853476] Chr17:50189011 [GRCh38]
Chr17:48266372 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1984-13C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003026085] Chr17:50192037 [GRCh38]
Chr17:48269398 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1005_1013del (p.Thr337_Pro339del) deletion Osteogenesis imperfecta type I [RCV002918367] Chr17:50195966..50195974 [GRCh38]
Chr17:48273327..48273335 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.261C>G (p.Pro87=) single nucleotide variant Osteogenesis imperfecta type I [RCV002791008] Chr17:50199790 [GRCh38]
Chr17:48277151 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+20T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003007213] Chr17:50196597 [GRCh38]
Chr17:48273958 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV002740933]|not provided [RCV003738284] Chr17:50185987 [GRCh38]
Chr17:48263348 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.643-17T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002745355] Chr17:50197802 [GRCh38]
Chr17:48275163 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.957+17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003084940] Chr17:50196297 [GRCh38]
Chr17:48273658 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2028+2T>A single nucleotide variant COL1A1-related disorder [RCV004548371]|Osteogenesis imperfecta type I [RCV002801974] Chr17:50191978 [GRCh38]
Chr17:48269339 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4063del (p.Leu1355fs) deletion Osteogenesis imperfecta type I [RCV002851633] Chr17:50185963 [GRCh38]
Chr17:48263324 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.639T>A (p.Ala213=) single nucleotide variant Osteogenesis imperfecta type I [RCV002932524] Chr17:50197952 [GRCh38]
Chr17:48275313 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1620G>C (p.Leu540=) single nucleotide variant Osteogenesis imperfecta type I [RCV003040730] Chr17:50194178 [GRCh38]
Chr17:48271539 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1736T>C (p.Val579Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002711126] Chr17:50193974 [GRCh38]
Chr17:48271335 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.622_642+3delinsGGGGGGAGCACTGTATAG indel Osteogenesis imperfecta type I [RCV002918750] Chr17:50197946..50197969 [GRCh38]
Chr17:48275307..48275330 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002740687] Chr17:50189729 [GRCh38]
Chr17:48267090 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3207+12G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003082915] Chr17:50188518 [GRCh38]
Chr17:48265879 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+15G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003084223] Chr17:50199738 [GRCh38]
Chr17:48277099 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1977T>C (p.Gly659=) single nucleotide variant Cardiovascular phenotype [RCV004992508]|Osteogenesis imperfecta type I [RCV003083128] Chr17:50192481 [GRCh38]
Chr17:48269842 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2554C>T (p.Pro852Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002574440] Chr17:50190006 [GRCh38]
Chr17:48267367 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3423+9T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002828200] Chr17:50187475 [GRCh38]
Chr17:48264836 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2398-12C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003056753] Chr17:50190392 [GRCh38]
Chr17:48267753 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2343+15T>A single nucleotide variant Osteogenesis imperfecta type I [RCV002851752] Chr17:50190802 [GRCh38]
Chr17:48268163 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.321C>T (p.Thr107=) single nucleotide variant Osteogenesis imperfecta type I [RCV003082992] Chr17:50199568 [GRCh38]
Chr17:48276929 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1148G>C (p.Gly383Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003022835] Chr17:50195574 [GRCh38]
Chr17:48272935 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1929+12T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002624961] Chr17:50192628 [GRCh38]
Chr17:48269989 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+11C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002982657] Chr17:50196473 [GRCh38]
Chr17:48273834 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.588+5G>C single nucleotide variant Osteogenesis imperfecta type I [RCV002872539] Chr17:50198156 [GRCh38]
Chr17:48275517 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.488T>C (p.Leu163Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV003023615] Chr17:50198488 [GRCh38]
Chr17:48275849 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1695del (p.Gly566fs) deletion Osteogenesis imperfecta type I [RCV003022394] Chr17:50194015 [GRCh38]
Chr17:48271376 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2560G>A (p.Gly854Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003041315] Chr17:50189912 [GRCh38]
Chr17:48267273 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2245G>A (p.Gly749Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003041317] Chr17:50190915 [GRCh38]
Chr17:48268276 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.858+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003041318] Chr17:50196616 [GRCh38]
Chr17:48273977 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.697-2del deletion Osteogenesis imperfecta type I [RCV003041319] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.670G>T (p.Gly224Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003041320] Chr17:50197758 [GRCh38]
Chr17:48275119 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3766G>T (p.Ala1256Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002957343] Chr17:50186688 [GRCh38]
Chr17:48264049 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.730C>T (p.Arg244Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002800725] Chr17:50197200 [GRCh38]
Chr17:48274561 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.769G>T (p.Gly257Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002851495] Chr17:50197045 [GRCh38]
Chr17:48274406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1478G>A (p.Arg493His) single nucleotide variant Osteogenesis imperfecta type I [RCV002666990] Chr17:50194610 [GRCh38]
Chr17:48271971 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1375C>T (p.Pro459Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002766055] Chr17:50194807 [GRCh38]
Chr17:48272168 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.249_252dup (p.Glu85fs) duplication Osteogenesis imperfecta type I [RCV002982165] Chr17:50199798..50199799 [GRCh38]
Chr17:48277159..48277160 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3225C>A (p.Ala1075=) single nucleotide variant Osteogenesis imperfecta type I [RCV003056832] Chr17:50188132 [GRCh38]
Chr17:48265493 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.294C>T (p.Gly98=) single nucleotide variant Osteogenesis imperfecta type I [RCV002741958] Chr17:50199757 [GRCh38]
Chr17:48277118 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2449C>T (p.Pro817Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003083143] Chr17:50190329 [GRCh38]
Chr17:48267690 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.84C>A (p.Val28=) single nucleotide variant Cardiovascular phenotype [RCV004990956]|Osteogenesis imperfecta type I [RCV003005082] Chr17:50201430 [GRCh38]
Chr17:48278791 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val) single nucleotide variant Osteogenesis imperfecta type I [RCV002982566] Chr17:50191477 [GRCh38]
Chr17:48268838 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3445G>T (p.Ala1149Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002786320] Chr17:50187101 [GRCh38]
Chr17:48264462 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1461+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV002891195] Chr17:50194720 [GRCh38]
Chr17:48272081 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.721C>T (p.Pro241Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002710413] Chr17:50197209 [GRCh38]
Chr17:48274570 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1455C>T (p.Gly485=) single nucleotide variant Osteogenesis imperfecta type I [RCV003042281] Chr17:50194727 [GRCh38]
Chr17:48272088 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.370-18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002644319] Chr17:50199345 [GRCh38]
Chr17:48276706 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2770C>T (p.Pro924Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002932387] Chr17:50189436 [GRCh38]
Chr17:48266797 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.805-14C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002667354]|not provided [RCV003738283] Chr17:50196684 [GRCh38]
Chr17:48274045 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.589-19C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002575677] Chr17:50198021 [GRCh38]
Chr17:48275382 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2910_2929dup (p.Gly977fs) duplication Osteogenesis imperfecta type I [RCV003041109] Chr17:50189175..50189176 [GRCh38]
Chr17:48266536..48266537 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2429del (p.Pro810fs) deletion Osteogenesis imperfecta type I [RCV002829670] Chr17:50190349 [GRCh38]
Chr17:48267710 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.627C>G (p.Gly209=) single nucleotide variant Osteogenesis imperfecta type I [RCV002918751] Chr17:50197964 [GRCh38]
Chr17:48275325 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3100-8C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003081884] Chr17:50188645 [GRCh38]
Chr17:48266006 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1450C>T (p.Pro484Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002914601]|not provided [RCV003443091] Chr17:50194732 [GRCh38]
Chr17:48272093 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1462-19G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002632328] Chr17:50194645 [GRCh38]
Chr17:48272006 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+10_298+43del deletion Osteogenesis imperfecta type I [RCV003031562] Chr17:50199710..50199743 [GRCh38]
Chr17:48277071..48277104 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1259C>T (p.Pro420Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002581748] Chr17:50195272 [GRCh38]
Chr17:48272633 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2829+8C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003031882] Chr17:50189369 [GRCh38]
Chr17:48266730 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4248+6T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003089935] Chr17:50185772 [GRCh38]
Chr17:48263133 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3637G>A (p.Gly1213Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003063668] Chr17:50186817 [GRCh38]
Chr17:48264178 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1615-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003044967] Chr17:50194184 [GRCh38]
Chr17:48271545 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4066delinsGTGTCCTGGAAG (p.Arg1356fs) indel Osteogenesis imperfecta type I [RCV003030557] Chr17:50185960 [GRCh38]
Chr17:48263321 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4356_4359dup (p.Phe1454fs) duplication Osteogenesis imperfecta type I [RCV003031584] Chr17:50185537..50185538 [GRCh38]
Chr17:48262898..48262899 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1978G>T (p.Glu660Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV002834647] Chr17:50192480 [GRCh38]
Chr17:48269841 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3755G>T (p.Arg1252Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003090281] Chr17:50186699 [GRCh38]
Chr17:48264060 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2333del (p.Pro778fs) deletion Osteogenesis imperfecta type I [RCV003045792] Chr17:50190827 [GRCh38]
Chr17:48268188 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1300-9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002647951] Chr17:50195109 [GRCh38]
Chr17:48272470 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1115A>G (p.Glu372Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003049297] Chr17:50195607 [GRCh38]
Chr17:48272968 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3345C>T (p.Gly1115=) single nucleotide variant Osteogenesis imperfecta type I [RCV002632585] Chr17:50187900 [GRCh38]
Chr17:48265261 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4051C>T (p.Gln1351Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003064465]|not provided [RCV003111617] Chr17:50185975 [GRCh38]
Chr17:48263336 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.333+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003064475] Chr17:50199555 [GRCh38]
Chr17:48276916 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.189C>A (p.Cys63Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003064477] Chr17:50199862 [GRCh38]
Chr17:48277223 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.738T>C (p.Pro246=) single nucleotide variant Osteogenesis imperfecta type I [RCV003065574] Chr17:50197192 [GRCh38]
Chr17:48274553 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003027965] Chr17:50196483 [GRCh38]
Chr17:48273844 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057-20T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002806493] Chr17:50195685 [GRCh38]
Chr17:48273046 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3654_3662del (p.Asp1219_Ala1221del) deletion Osteogenesis imperfecta type I [RCV003027620] Chr17:50186792..50186800 [GRCh38]
Chr17:48264153..48264161 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3535C>T (p.Pro1179Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003063531]|not provided [RCV004790345] Chr17:50186919 [GRCh38]
Chr17:48264280 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3898G>A (p.Val1300Met) single nucleotide variant Osteogenesis imperfecta type I [RCV002923001] Chr17:50186424 [GRCh38]
Chr17:48263785 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3261+11T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002576719] Chr17:50188085 [GRCh38]
Chr17:48265446 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3452del (p.Gly1151fs) deletion Osteogenesis imperfecta type I [RCV003028280] Chr17:50187094 [GRCh38]
Chr17:48264455 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3099+17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003011334] Chr17:50188725 [GRCh38]
Chr17:48266086 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1176_1179dup (p.Pro394fs) duplication Osteogenesis imperfecta type I [RCV002856748] Chr17:50195454..50195455 [GRCh38]
Chr17:48272815..48272816 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.589-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002988519] Chr17:50198015 [GRCh38]
Chr17:48275376 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3238_3246dup (p.Gly1082_Ala1083insProValGly) duplication Osteogenesis imperfecta type I [RCV002898738] Chr17:50188110..50188111 [GRCh38]
Chr17:48265471..48265472 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.543+18G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003009780] Chr17:50198415 [GRCh38]
Chr17:48275776 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002599217] Chr17:50197969 [GRCh38]
Chr17:48275330 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2087C>T (p.Pro696Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002937241] Chr17:50191828 [GRCh38]
Chr17:48269189 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3261+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV002898558] Chr17:50188087 [GRCh38]
Chr17:48265448 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1225C>G (p.Pro409Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV002833709] Chr17:50195306 [GRCh38]
Chr17:48272667 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=) single nucleotide variant Osteogenesis imperfecta type I [RCV002962585] Chr17:50187511 [GRCh38]
Chr17:48264872 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1251C>T (p.Pro417=) single nucleotide variant Osteogenesis imperfecta type I [RCV002770423] Chr17:50195280 [GRCh38]
Chr17:48272641 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.577_578del (p.Pro193fs) deletion Osteogenesis imperfecta type I [RCV002833180] Chr17:50198171..50198172 [GRCh38]
Chr17:48275532..48275533 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2560-19_2560-18delinsTG indel Osteogenesis imperfecta type I [RCV003087461] Chr17:50189930..50189931 [GRCh38]
Chr17:48267291..48267292 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1983+2dup duplication Osteogenesis imperfecta type I [RCV002856740] Chr17:50192472..50192473 [GRCh38]
Chr17:48269833..48269834 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1444G>C (p.Gly482Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003010240] Chr17:50194738 [GRCh38]
Chr17:48272099 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.447_455del (p.143PPG[3]) deletion Osteogenesis imperfecta type I [RCV002629491] Chr17:50199242..50199250 [GRCh38]
Chr17:48276603..48276611 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.104-8dup duplication Osteogenesis imperfecta type I [RCV002834693] Chr17:50199954..50199955 [GRCh38]
Chr17:48277315..48277316 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3315_3316del (p.Gly1106fs) microsatellite Osteogenesis imperfecta type I [RCV003048151] Chr17:50187929..50187930 [GRCh38]
Chr17:48265290..48265291 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.313C>T (p.Gln105Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003044639]|not provided [RCV003138459] Chr17:50199576 [GRCh38]
Chr17:48276937 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4285T>C (p.Tyr1429His) single nucleotide variant Osteogenesis imperfecta type I [RCV002601902]|not provided [RCV003481319] Chr17:50185612 [GRCh38]
Chr17:48262973 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1929+10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003087243] Chr17:50192630 [GRCh38]
Chr17:48269991 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+12del deletion Osteogenesis imperfecta type I [RCV002895646] Chr17:50195911 [GRCh38]
Chr17:48273272 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1984-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003046232] Chr17:50192026 [GRCh38]
Chr17:48269387 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-17C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002650778] Chr17:50196384 [GRCh38]
Chr17:48273745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.806G>A (p.Gly269Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV002806911] Chr17:50196669 [GRCh38]
Chr17:48274030 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.405T>C (p.Pro135=) single nucleotide variant Osteogenesis imperfecta type I [RCV003063685] Chr17:50199292 [GRCh38]
Chr17:48276653 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4005+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003064466] Chr17:50186316 [GRCh38]
Chr17:48263677 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV003064470] Chr17:50195667 [GRCh38]
Chr17:48273028 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.904-10T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003064471] Chr17:50196377 [GRCh38]
Chr17:48273738 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.614del (p.Pro205fs) deletion Osteogenesis imperfecta type I [RCV003064472] Chr17:50197977 [GRCh38]
Chr17:48275338 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.299-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003064476] Chr17:50199591 [GRCh38]
Chr17:48276952 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.671G>C (p.Gly224Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003048110] Chr17:50197757 [GRCh38]
Chr17:48275118 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1213del (p.Ile405fs) deletion Osteogenesis imperfecta type I [RCV002856623] Chr17:50195318 [GRCh38]
Chr17:48272679 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2451+13A>G single nucleotide variant Osteogenesis imperfecta type I [RCV002770394] Chr17:50190314 [GRCh38]
Chr17:48267675 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.653G>T (p.Gly218Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003087405] Chr17:50197775 [GRCh38]
Chr17:48275136 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3191del (p.Gly1064fs) deletion Osteogenesis imperfecta type I [RCV003031730] Chr17:50188546 [GRCh38]
Chr17:48265907 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.401dup (p.Gly136fs) duplication Osteogenesis imperfecta type I [RCV002856124] Chr17:50199295..50199296 [GRCh38]
Chr17:48276656..48276657 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4334T>C (p.Leu1445Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003009656] Chr17:50185563 [GRCh38]
Chr17:48262924 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.298+18G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002599071] Chr17:50199735 [GRCh38]
Chr17:48277096 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr) single nucleotide variant Cardiovascular phenotype [RCV004990906]|Osteogenesis imperfecta type I [RCV002900265] Chr17:50186645 [GRCh38]
Chr17:48264006 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.2451+6T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003046244] Chr17:50190321 [GRCh38]
Chr17:48267682 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1768-12C>G single nucleotide variant Osteogenesis imperfecta type I [RCV002834783] Chr17:50193059 [GRCh38]
Chr17:48270420 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3531+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003064467] Chr17:50187013 [GRCh38]
Chr17:48264374 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1787G>C (p.Gly596Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003064468] Chr17:50193028 [GRCh38]
Chr17:48270389 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1300-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003064469] Chr17:50195101 [GRCh38]
Chr17:48272462 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.569del (p.Pro190fs) deletion Osteogenesis imperfecta type I [RCV003064473] Chr17:50198180 [GRCh38]
Chr17:48275541 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2521C>T (p.Pro841Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002647961] Chr17:50190039 [GRCh38]
Chr17:48267400 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2613+17T>G single nucleotide variant Osteogenesis imperfecta type I [RCV002805930] Chr17:50189842 [GRCh38]
Chr17:48267203 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3871_3881del (p.Cys1291fs) deletion Osteogenesis imperfecta type I [RCV003031544] Chr17:50186441..50186451 [GRCh38]
Chr17:48263802..48263812 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4103A>G (p.Tyr1368Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV002899050] Chr17:50185923 [GRCh38]
Chr17:48263284 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3156del (p.Ala1053fs) deletion Osteogenesis imperfecta type I [RCV002791761] Chr17:50188581 [GRCh38]
Chr17:48265942 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1287C>T (p.Pro429=) single nucleotide variant Osteogenesis imperfecta type I [RCV002944051] Chr17:50195244 [GRCh38]
Chr17:48272605 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.544-19dup duplication Osteogenesis imperfecta type I [RCV003069855] Chr17:50198223..50198224 [GRCh38]
Chr17:48275584..48275585 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3424-12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002722154] Chr17:50187134 [GRCh38]
Chr17:48264495 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.429C>T (p.Pro143=) single nucleotide variant Osteogenesis imperfecta type I [RCV003066473] Chr17:50199268 [GRCh38]
Chr17:48276629 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3168dup (p.Val1057fs) duplication Osteogenesis imperfecta type I [RCV003050485] Chr17:50188568..50188569 [GRCh38]
Chr17:48265929..48265930 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1821+11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003052786]|not specified [RCV003994486] Chr17:50192983 [GRCh38]
Chr17:48270344 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003050487]|not provided [RCV005051998] Chr17:50195922 [GRCh38]
Chr17:48273283 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.588+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003050489]|not provided [RCV004786808] Chr17:50198156 [GRCh38]
Chr17:48275517 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4154A>G (p.Lys1385Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002633410] Chr17:50185872 [GRCh38]
Chr17:48263233 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1876-19T>C single nucleotide variant Osteogenesis imperfecta type I [RCV002942924] Chr17:50192712 [GRCh38]
Chr17:48270073 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.73G>A (p.Glu25Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV002603198] Chr17:50201441 [GRCh38]
Chr17:48278802 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.904-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002726009] Chr17:50196384 [GRCh38]
Chr17:48273745 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.423del (p.Gly142fs) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV003152830] Chr17:50199274 [GRCh38]
Chr17:48276635 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1532G>T (p.Arg511Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV002634694] Chr17:50194431 [GRCh38]
Chr17:48271792 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.370-17G>A single nucleotide variant Osteogenesis imperfecta type I [RCV002603300] Chr17:50199344 [GRCh38]
Chr17:48276705 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3376C>T (p.Pro1126Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV002603377] Chr17:50187531 [GRCh38]
Chr17:48264892 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4193T>G (p.Ile1398Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003050484] Chr17:50185833 [GRCh38]
Chr17:48263194 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.634G>A (p.Gly212Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003050488] Chr17:50197957 [GRCh38]
Chr17:48275318 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3234C>T (p.Val1078=) single nucleotide variant Osteogenesis imperfecta type I [RCV002942192] Chr17:50188123 [GRCh38]
Chr17:48265484 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3252T>G (p.Arg1084=) single nucleotide variant Osteogenesis imperfecta type I [RCV002585421] Chr17:50188105 [GRCh38]
Chr17:48265466 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2560-9C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003092903] Chr17:50189921 [GRCh38]
Chr17:48267282 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1406G>A (p.Arg469Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003092463] Chr17:50194776 [GRCh38]
Chr17:48272137 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.471+9AG[4] microsatellite Osteogenesis imperfecta type I [RCV003092580] Chr17:50199213..50199214 [GRCh38]
Chr17:48276574..48276575 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.751-3C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002610970] Chr17:50197066 [GRCh38]
Chr17:48274427 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2855A>G (p.Gln952Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV002611231]|not provided [RCV004779438] Chr17:50189250 [GRCh38]
Chr17:48266611 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2452-17C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003072095] Chr17:50190125 [GRCh38]
Chr17:48267486 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3645C>T (p.Tyr1215=) single nucleotide variant Cardiovascular phenotype [RCV004614340]|Osteogenesis imperfecta type I [RCV003072106] Chr17:50186809 [GRCh38]
Chr17:48264170 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2140G>A (p.Ala714Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV002612031] Chr17:50191478 [GRCh38]
Chr17:48268839 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1206T>C (p.Ala402=) single nucleotide variant Osteogenesis imperfecta type I [RCV003072599] Chr17:50195325 [GRCh38]
Chr17:48272686 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3814+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002589698] Chr17:50186622 [GRCh38]
Chr17:48263983 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1876-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003050486] Chr17:50192694 [GRCh38]
Chr17:48270055 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3155G>C (p.Gly1052Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003072872] Chr17:50188582 [GRCh38]
Chr17:48265943 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2334del (p.Gly779fs) deletion Osteogenesis imperfecta type I [RCV003072873] Chr17:50190826 [GRCh38]
Chr17:48268187 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1828G>T (p.Ala610Ser) single nucleotide variant Cardiovascular phenotype [RCV004992519]|Osteogenesis imperfecta type I [RCV002603068] Chr17:50192844 [GRCh38]
Chr17:48270205 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2684C>T (p.Pro895Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003093603] Chr17:50189522 [GRCh38]
Chr17:48266883 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1002+20C>T single nucleotide variant Osteogenesis imperfecta type I [RCV002612611] Chr17:50196135 [GRCh38]
Chr17:48273496 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815-3C>T single nucleotide variant not provided [RCV003145699] Chr17:50186510 [GRCh38]
Chr17:48263871 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.346G>C (p.Asp116His) single nucleotide variant not provided [RCV003145702] Chr17:50199441 [GRCh38]
Chr17:48276802 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1571G>C (p.Gly524Ala) single nucleotide variant See cases [RCV003155541] Chr17:50194392 [GRCh38]
Chr17:48271753 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2393C>T (p.Ala798Val) single nucleotide variant not provided [RCV003145703] Chr17:50190547 [GRCh38]
Chr17:48267908 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2906A>G (p.Glu969Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003778851]|not provided [RCV003145700] Chr17:50189199 [GRCh38]
Chr17:48266560 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2532_2540del (p.844AGP[1]) deletion Osteogenesis imperfecta type I [RCV004780730] Chr17:50190020..50190028 [GRCh38]
Chr17:48267381..48267389 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4260A>T (p.Gly1420=) single nucleotide variant Cardiovascular phenotype [RCV003278248] Chr17:50185637 [GRCh38]
Chr17:48262998 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.644G>A (p.Gly215Asp) single nucleotide variant Osteogenesis imperfecta type III [RCV004795720] Chr17:50197784 [GRCh38]
Chr17:48275145 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3466A>C (p.Asn1156His) single nucleotide variant not provided [RCV004778438] Chr17:50187080 [GRCh38]
Chr17:48264441 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2872C>T (p.Arg958Cys) single nucleotide variant not provided [RCV003218938] Chr17:50189233 [GRCh38]
Chr17:48266594 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.396T>C (p.Asp132=) single nucleotide variant Cardiovascular phenotype [RCV003177427] Chr17:50199301 [GRCh38]
Chr17:48276662 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3402C>T (p.Ala1134=) single nucleotide variant Cardiovascular phenotype [RCV003177428] Chr17:50187505 [GRCh38]
Chr17:48264866 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.183C>T (p.Cys61=) single nucleotide variant Cardiovascular phenotype [RCV003177429]|Osteogenesis imperfecta type I [RCV003631299] Chr17:50199868 [GRCh38]
Chr17:48277229 [GRCh37]
Chr17:17q21.33		 benign|likely benign
NM_000088.4(COL1A1):c.2522C>A (p.Pro841His) single nucleotide variant not provided [RCV003218933] Chr17:50190038 [GRCh38]
Chr17:48267399 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1004G>T (p.Gly335Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV003227558] Chr17:50195975 [GRCh38]
Chr17:48273336 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1066G>A (p.Gly356Ser) single nucleotide variant not provided [RCV003225482] Chr17:50195656 [GRCh38]
Chr17:48273017 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3815-1G>C single nucleotide variant not provided [RCV003222922] Chr17:50186508 [GRCh38]
Chr17:48263869 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2039del (p.Gly680fs) deletion Osteogenesis imperfecta type I [RCV003224942] Chr17:50191876 [GRCh38]
Chr17:48269237 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.11:g.50188796del deletion not provided [RCV003222923] Chr17:50188792 [GRCh38]
Chr17:48266153 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.662G>A (p.Gly221Asp) single nucleotide variant not provided [RCV003141617] Chr17:50197766 [GRCh38]
Chr17:48275127 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.983_984dup (p.Gly329fs) duplication not provided [RCV003136503] Chr17:50196172..50196173 [GRCh38]
Chr17:48273533..48273534 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.670G>A (p.Gly224Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003517449]|not provided [RCV003136508] Chr17:50197758 [GRCh38]
Chr17:48275119 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.409C>T (p.Gln137Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003142472] Chr17:50199288 [GRCh38]
Chr17:48276649 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3100-2A>G single nucleotide variant not provided [RCV003136517] Chr17:50188639 [GRCh38]
Chr17:48266000 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2848G>A (p.Gly950Arg) single nucleotide variant not provided [RCV003235779] Chr17:50189257 [GRCh38]
Chr17:48266618 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3011G>A (p.Gly1004Glu) single nucleotide variant Osteogenesis imperfecta, recessive perinatal lethal [RCV003140292] Chr17:50188937 [GRCh38]
Chr17:48266298 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.905G>A (p.Gly302Asp) single nucleotide variant Osteogenesis imperfecta, recessive perinatal lethal [RCV003140266] Chr17:50196366 [GRCh38]
Chr17:48273727 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3721del (p.Gln1241fs) deletion Osteogenesis imperfecta type I [RCV003140532] Chr17:50186733 [GRCh38]
Chr17:48264094 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.804+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003517451]|not provided [RCV003145701] Chr17:50197007 [GRCh38]
Chr17:48274368 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1520C>T (p.Pro507Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003779828]|not provided [RCV003229289] Chr17:50194443 [GRCh38]
Chr17:48271804 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1082G>A (p.Arg361Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003517471]|not provided [RCV003229382] Chr17:50195640 [GRCh38]
Chr17:48273001 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3977T>G (p.Phe1326Cys) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV003219187] Chr17:50186345 [GRCh38]
Chr17:48263706 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4339G>T (p.Val1447Phe) single nucleotide variant Primary dilated cardiomyopathy [RCV003319257]|not provided [RCV003420624] Chr17:50185558 [GRCh38]
Chr17:48262919 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1461+5G>A single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV003459155] Chr17:50194716 [GRCh38]
Chr17:48272077 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1551T>C (p.Ala517=) single nucleotide variant Cardiovascular phenotype [RCV003306811]|Osteogenesis imperfecta type I [RCV003631306] Chr17:50194412 [GRCh38]
Chr17:48271773 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2721A>G (p.Lys907=) single nucleotide variant Cardiovascular phenotype [RCV003306812]|Osteogenesis imperfecta type I [RCV003631307] Chr17:50189485 [GRCh38]
Chr17:48266846 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.3(COL1A1):c.3371del deletion not provided [RCV003318859] Chr17:50187536 [GRCh38]
Chr17:48264897 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.750+3G>A single nucleotide variant Cardiovascular phenotype [RCV003310412]|Osteogenesis imperfecta type I [RCV003631304] Chr17:50197177 [GRCh38]
Chr17:48274538 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.310G>A (p.Asp104Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003872671] Chr17:50199579 [GRCh38]
Chr17:48276940 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3371G>A (p.Gly1124Asp) single nucleotide variant Cardiovascular phenotype [RCV004313252] Chr17:50187536 [GRCh38]
Chr17:48264897 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4338C>G (p.Asp1446Glu) single nucleotide variant not provided [RCV003319794] Chr17:50185559 [GRCh38]
Chr17:48262920 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3814+1G>A single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV003322732] Chr17:50186639 [GRCh38]
Chr17:48264000 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2821G>A (p.Gly941Ser) single nucleotide variant Osteogenesis imperfecta type III [RCV003326701] Chr17:50189385 [GRCh38]
Chr17:48266746 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.824G>T (p.Gly275Val) single nucleotide variant See cases [RCV004798150] Chr17:50196651 [GRCh38]
Chr17:48274012 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3064G>T (p.Gly1022Cys) single nucleotide variant Osteogenesis imperfecta type III [RCV003333183] Chr17:50188777 [GRCh38]
Chr17:48266138 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1002+5G>A single nucleotide variant COL1A1-related disorder [RCV004550727] Chr17:50196150 [GRCh38]
Chr17:48273511 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1426G>A (p.Gly476Arg) single nucleotide variant Osteogenesis imperfecta [RCV003327333]|not provided [RCV004701037] Chr17:50194756 [GRCh38]
Chr17:48272117 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4323T>A (p.Asp1441Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV003337971] Chr17:50185574 [GRCh38]
Chr17:48262935 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.623del (p.Pro208fs) deletion See cases [RCV003334421] Chr17:50197968 [GRCh38]
Chr17:48275329 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1538C>T (p.Ser513Phe) single nucleotide variant not provided [RCV003387580] Chr17:50194425 [GRCh38]
Chr17:48271786 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1521C>T (p.Pro507=) single nucleotide variant Cardiovascular phenotype [RCV003358448] Chr17:50194442 [GRCh38]
Chr17:48271803 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3966G>A (p.Arg1322=) single nucleotide variant Cardiovascular phenotype [RCV003360716] Chr17:50186356 [GRCh38]
Chr17:48263717 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3081C>T (p.Asp1027=) single nucleotide variant Cardiovascular phenotype [RCV003360717]|Osteogenesis imperfecta type I [RCV003631315] Chr17:50188760 [GRCh38]
Chr17:48266121 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1254T>G (p.Ser418=) single nucleotide variant Cardiovascular phenotype [RCV003360713] Chr17:50195277 [GRCh38]
Chr17:48272638 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.760G>T (p.Gly254Ter) single nucleotide variant Osteogenesis imperfecta [RCV003331999] Chr17:50197054 [GRCh38]
Chr17:48274415 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2631T>G (p.Pro877=) single nucleotide variant Cardiovascular phenotype [RCV003360712] Chr17:50189715 [GRCh38]
Chr17:48267076 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3967C>T (p.His1323Tyr) single nucleotide variant Osteogenesis imperfecta type I [RCV003384290] Chr17:50186355 [GRCh38]
Chr17:48263716 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3100-6C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003333427] Chr17:50188643 [GRCh38]
Chr17:48266004 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.370-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003333666] Chr17:50199329 [GRCh38]
Chr17:48276690 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3001G>A (p.Gly1001Ser) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV003384288] Chr17:50188947 [GRCh38]
Chr17:48266308 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2192G>A (p.Gly731Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV003384289] Chr17:50191426 [GRCh38]
Chr17:48268787 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1836A>T (p.Lys612Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003873242] Chr17:50192836 [GRCh38]
Chr17:48270197 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3005C>A (p.Pro1002His) single nucleotide variant Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 [RCV004797108] Chr17:50188943 [GRCh38]
Chr17:48266304 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1515+19C>T single nucleotide variant not provided [RCV003482603] Chr17:50194554 [GRCh38]
Chr17:48271915 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1516-5A>G single nucleotide variant Osteoporosis [RCV003447852] Chr17:50194452 [GRCh38]
Chr17:48271813 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2159G>T (p.Ser720Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003875037] Chr17:50191459 [GRCh38]
Chr17:48268820 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2975G>A (p.Gly992Asp) single nucleotide variant COL1A1-related disorder [RCV004552428] Chr17:50188973 [GRCh38]
Chr17:48266334 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3251G>T (p.Arg1084Leu) single nucleotide variant COL1A1-related disorder [RCV004552469]|Osteogenesis imperfecta type I [RCV003517497] Chr17:50188106 [GRCh38]
Chr17:48265467 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3509del (p.Arg1170fs) deletion COL1A1-related disorder [RCV004552486] Chr17:50187037 [GRCh38]
Chr17:48264398 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4262C>T (p.Ala1421Val) single nucleotide variant not provided [RCV003480252] Chr17:50185635 [GRCh38]
Chr17:48262996 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.904-25T>A single nucleotide variant not provided [RCV003480257] Chr17:50196392 [GRCh38]
Chr17:48273753 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+1G>C single nucleotide variant not provided [RCV003480500] Chr17:50197731 [GRCh38]
Chr17:48275092 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1219G>A (p.Gly407Ser) single nucleotide variant not provided [RCV003480499] Chr17:50195312 [GRCh38]
Chr17:48272673 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.162_168dup (p.Pro57fs) duplication Osteogenesis imperfecta [RCV003479751] Chr17:50199882..50199883 [GRCh38]
Chr17:48277243..48277244 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4213C>A (p.Arg1405Ser) single nucleotide variant not provided [RCV003442609] Chr17:50185813 [GRCh38]
Chr17:48263174 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.989C>A (p.Ala330Asp) single nucleotide variant not provided [RCV003480256] Chr17:50196168 [GRCh38]
Chr17:48273529 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2450_2451insG (p.Gly818fs) insertion Osteogenesis imperfecta type I [RCV003444020] Chr17:50190327..50190328 [GRCh38]
Chr17:48267688..48267689 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2777G>A (p.Gly926Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004789848] Chr17:50189429 [GRCh38]
Chr17:48266790 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.108del (p.Pro37fs) deletion Osteogenesis imperfecta type I [RCV003445221] Chr17:50199943 [GRCh38]
Chr17:48277304 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2345G>C (p.Gly782Ala) single nucleotide variant COL1A1-related disorder [RCV004550738] Chr17:50190595 [GRCh38]
Chr17:48267956 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3232G>A (p.Val1078Ile) single nucleotide variant COL1A1-related disorder [RCV004550591] Chr17:50188125 [GRCh38]
Chr17:48265486 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.65_66delinsTT (p.Gly22Val) indel COL1A1-related disorder [RCV004550628] Chr17:50201448..50201449 [GRCh38]
Chr17:48278809..48278810 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.957+6T>C single nucleotide variant COL1A1-related disorder [RCV004554134] Chr17:50196308 [GRCh38]
Chr17:48273669 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2282G>A (p.Gly761Asp) single nucleotide variant COL1A1-related disorder [RCV004550742] Chr17:50190878 [GRCh38]
Chr17:48268239 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.449C>T (p.Pro150Leu) single nucleotide variant COL1A1-related disorder [RCV004550765] Chr17:50199248 [GRCh38]
Chr17:48276609 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.937C>A (p.Pro313Thr) single nucleotide variant COL1A1-related disorder [RCV004550623] Chr17:50196334 [GRCh38]
Chr17:48273695 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.957+4del deletion COL1A1-related disorder [RCV004550629] Chr17:50196310 [GRCh38]
Chr17:48273671 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1354-1G>T single nucleotide variant COL1A1-related disorder [RCV004550689] Chr17:50194829 [GRCh38]
Chr17:48272190 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1879C>T (p.Pro627Ser) single nucleotide variant COL1A1-related disorder [RCV004550792] Chr17:50192690 [GRCh38]
Chr17:48270051 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4029C>T (p.Ser1343=) single nucleotide variant not provided [RCV003419772] Chr17:50185997 [GRCh38]
Chr17:48263358 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1184G>C (p.Gly395Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003517564] Chr17:50195450 [GRCh38]
Chr17:48272811 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.530T>C (p.Val177Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003518176] Chr17:50198446 [GRCh38]
Chr17:48275807 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.466G>A (p.Gly156Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003518330] Chr17:50199231 [GRCh38]
Chr17:48276592 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3534T>A (p.Gly1178=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518114] Chr17:50186920 [GRCh38]
Chr17:48264281 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3233T>A (p.Val1078Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003517632] Chr17:50188124 [GRCh38]
Chr17:48265485 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3684C>T (p.Asp1228=) single nucleotide variant Cardiovascular phenotype [RCV004992674]|Osteogenesis imperfecta type I [RCV003517649] Chr17:50186770 [GRCh38]
Chr17:48264131 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3701C>G (p.Thr1234Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003516678] Chr17:50186753 [GRCh38]
Chr17:48264114 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1456G>T (p.Glu486Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003518032] Chr17:50194726 [GRCh38]
Chr17:48272087 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003518038]|not provided [RCV004723355] Chr17:50199851 [GRCh38]
Chr17:48277212 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.1430C>G (p.Pro477Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003518478] Chr17:50194752 [GRCh38]
Chr17:48272113 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2560-18C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518632] Chr17:50189930 [GRCh38]
Chr17:48267291 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.804+3G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518641] Chr17:50197007 [GRCh38]
Chr17:48274368 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1925del (p.Phe642fs) deletion Osteogenesis imperfecta type I [RCV003517740] Chr17:50192644 [GRCh38]
Chr17:48270005 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.543+15G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003516784] Chr17:50198418 [GRCh38]
Chr17:48275779 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3330C>A (p.His1110Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003518062] Chr17:50187915 [GRCh38]
Chr17:48265276 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4296C>T (p.Thr1432=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518236] Chr17:50185601 [GRCh38]
Chr17:48262962 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2321C>T (p.Pro774Leu) single nucleotide variant Cardiovascular phenotype [RCV004369197]|Osteogenesis imperfecta type I [RCV003518495] Chr17:50190839 [GRCh38]
Chr17:48268200 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+5G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518496] Chr17:50197727 [GRCh38]
Chr17:48275088 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1354-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003517856] Chr17:50194829 [GRCh38]
Chr17:48272190 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1882_1886dup (p.Glu630fs) duplication Osteogenesis imperfecta type I [RCV003517891] Chr17:50192682..50192683 [GRCh38]
Chr17:48270043..48270044 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3046-4G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003516788] Chr17:50188799 [GRCh38]
Chr17:48266160 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2184A>C (p.Gly728=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518239] Chr17:50191434 [GRCh38]
Chr17:48268795 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.903+9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518242] Chr17:50196475 [GRCh38]
Chr17:48273836 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4392G>A (p.Leu1464=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518245] Chr17:50185505 [GRCh38]
Chr17:48262866 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2343+12G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518371] Chr17:50190805 [GRCh38]
Chr17:48268166 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3827T>G (p.Ile1276Ser) single nucleotide variant not provided [RCV003490596] Chr17:50186495 [GRCh38]
Chr17:48263856 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1983+14G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518025] Chr17:50192461 [GRCh38]
Chr17:48269822 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1200+5G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003517705] Chr17:50195429 [GRCh38]
Chr17:48272790 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+3A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003517736] Chr17:50197729 [GRCh38]
Chr17:48275090 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+18_1155+19insT insertion Osteogenesis imperfecta type I [RCV003517763] Chr17:50195548..50195549 [GRCh38]
Chr17:48272909..48272910 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2009dup (p.Gly671fs) duplication Osteogenesis imperfecta type I [RCV003517769] Chr17:50191998..50191999 [GRCh38]
Chr17:48269359..48269360 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3045+18C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518527] Chr17:50188885 [GRCh38]
Chr17:48266246 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3208-15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518529] Chr17:50188164 [GRCh38]
Chr17:48265525 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1958del (p.Gly653fs) deletion Osteogenesis imperfecta type I [RCV003516754] Chr17:50192500 [GRCh38]
Chr17:48269861 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1238del (p.Gly413fs) deletion Osteogenesis imperfecta type I [RCV003516759] Chr17:50195293 [GRCh38]
Chr17:48272654 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2165del (p.Gly722fs) deletion Osteogenesis imperfecta type I [RCV003517087] Chr17:50191453 [GRCh38]
Chr17:48268814 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1453G>A (p.Gly485Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003518266] Chr17:50194729 [GRCh38]
Chr17:48272090 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1299+13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518533] Chr17:50195219 [GRCh38]
Chr17:48272580 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1299+20T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003516876] Chr17:50195212 [GRCh38]
Chr17:48272573 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.73G>T (p.Glu25Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003517959] Chr17:50201441 [GRCh38]
Chr17:48278802 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1846G>A (p.Ala616Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003517979] Chr17:50192826 [GRCh38]
Chr17:48270187 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3099+13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517994] Chr17:50188729 [GRCh38]
Chr17:48266090 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1057-19G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518389] Chr17:50195684 [GRCh38]
Chr17:48273045 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1875+15T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003516899] Chr17:50192782 [GRCh38]
Chr17:48270143 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3661G>A (p.Ala1221Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003516920] Chr17:50186793 [GRCh38]
Chr17:48264154 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4070_4206dup (p.Asn1403Ter) duplication Osteogenesis imperfecta type I [RCV003516948] Chr17:50185819..50185820 [GRCh38]
Chr17:48263180..48263181 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.196G>T (p.Gly66Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003517941] Chr17:50199855 [GRCh38]
Chr17:48277216 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+13G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518391] Chr17:50195554 [GRCh38]
Chr17:48272915 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2917C>T (p.Pro973Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003518397] Chr17:50189188 [GRCh38]
Chr17:48266549 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2748T>C (p.Ala916=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518553] Chr17:50189458 [GRCh38]
Chr17:48266819 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1424C>A (p.Pro475His) single nucleotide variant Osteogenesis imperfecta type I [RCV003518558] Chr17:50194758 [GRCh38]
Chr17:48272119 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2407G>A (p.Gly803Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003516865] Chr17:50190371 [GRCh38]
Chr17:48267732 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4005+10C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003517993] Chr17:50186307 [GRCh38]
Chr17:48263668 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1011_1019del (p.Ala340_Pro342del) deletion Osteogenesis imperfecta type I [RCV003518402] Chr17:50195960..50195968 [GRCh38]
Chr17:48273321..48273329 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3988A>G (p.Met1330Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003518403] Chr17:50186334 [GRCh38]
Chr17:48263695 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1833C>T (p.Gly611=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518571] Chr17:50192839 [GRCh38]
Chr17:48270200 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4249-6C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518078] Chr17:50185654 [GRCh38]
Chr17:48263015 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.322del (p.Thr108fs) deletion Osteogenesis imperfecta type I [RCV003518184] Chr17:50199567 [GRCh38]
Chr17:48276928 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1983+20C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003831634] Chr17:50192455 [GRCh38]
Chr17:48269816 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1809C>T (p.Pro603=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518579] Chr17:50193006 [GRCh38]
Chr17:48270367 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4253A>G (p.His1418Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003517695] Chr17:50185644 [GRCh38]
Chr17:48263005 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.731G>A (p.Arg244His) single nucleotide variant Osteogenesis imperfecta type I [RCV003517758] Chr17:50197199 [GRCh38]
Chr17:48274560 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3814G>T (p.Gly1272Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003518100] Chr17:50186640 [GRCh38]
Chr17:48264001 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2396C>T (p.Pro799Leu) single nucleotide variant Cardiovascular phenotype [RCV004992630]|Osteogenesis imperfecta type I [RCV003518287] Chr17:50190544 [GRCh38]
Chr17:48267905 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2136T>C (p.Ala712=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518584] Chr17:50191482 [GRCh38]
Chr17:48268843 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.750+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003518115] Chr17:50197176 [GRCh38]
Chr17:48274537 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2451+16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518599] Chr17:50190311 [GRCh38]
Chr17:48267672 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1811C>T (p.Pro604Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003517946] Chr17:50193004 [GRCh38]
Chr17:48270365 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2445C>G (p.Gly815=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518306] Chr17:50190333 [GRCh38]
Chr17:48267694 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.79C>T (p.Gln27Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003518309] Chr17:50201435 [GRCh38]
Chr17:48278796 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.22C>T (p.Arg8Trp) single nucleotide variant Osteogenesis imperfecta type I [RCV003518440] Chr17:50201492 [GRCh38]
Chr17:48278853 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.750+16_750+17insGCTGTTGGTGCTTCCTGGCTTCCCTGGTGCTGTTGGTGCTAAGGTGAGACCCCCCACTCTCCTCTAAGCATGACCCTCATGGGCCAAGGGGTTCATGTCTCCCTGTTCCCCAAACCAAAGGGACCCAGAGTGGCAAGAGAGCAGCCCGTTCACTAACACCTTTGTCCTGGGGTCTCCGTCTCTGATCTTAGAGTCCTGATCA insertion Osteogenesis imperfecta type I [RCV003517970] Chr17:50197163..50197164 [GRCh38]
Chr17:48274524..48274525 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.804+20T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518144] Chr17:50196990 [GRCh38]
Chr17:48274351 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1983+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518316] Chr17:50192474 [GRCh38]
Chr17:48269835 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.554del (p.Gly185fs) deletion Osteogenesis imperfecta type I [RCV003517520] Chr17:50198195 [GRCh38]
Chr17:48275556 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2239_2240insGATAGG (p.Asp747delinsGlyTer) insertion Osteogenesis imperfecta type I [RCV003518152] Chr17:50190920..50190921 [GRCh38]
Chr17:48268281..48268282 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1690C>T (p.Arg564Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003518321] Chr17:50194020 [GRCh38]
Chr17:48271381 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1929+1_1929+6del deletion Osteogenesis imperfecta type I [RCV003518461] Chr17:50192634..50192639 [GRCh38]
Chr17:48269995..48270000 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3834del (p.Asn1279fs) deletion Osteogenesis imperfecta type I [RCV003517917] Chr17:50186488 [GRCh38]
Chr17:48263849 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1515+20G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517911] Chr17:50194553 [GRCh38]
Chr17:48271914 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2668-11T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003828623] Chr17:50189549 [GRCh38]
Chr17:48266910 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3837C>T (p.Asn1279=) single nucleotide variant Osteogenesis imperfecta type I [RCV003516696] Chr17:50186485 [GRCh38]
Chr17:48263846 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3995A>G (p.Asp1332Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003516698] Chr17:50186327 [GRCh38]
Chr17:48263688 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.144T>C (p.His48=) single nucleotide variant Osteogenesis imperfecta type I [RCV003516722] Chr17:50199907 [GRCh38]
Chr17:48277268 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.3369+15C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003516729] Chr17:50187861 [GRCh38]
Chr17:48265222 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2559+13G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003516740] Chr17:50189988 [GRCh38]
Chr17:48267349 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2372G>C (p.Gly791Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003516859] Chr17:50190568 [GRCh38]
Chr17:48267929 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.272G>A (p.Cys91Tyr) single nucleotide variant Osteogenesis imperfecta type I [RCV003516888] Chr17:50199779 [GRCh38]
Chr17:48277140 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4191G>T (p.Glu1397Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003517063] Chr17:50185835 [GRCh38]
Chr17:48263196 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4005+1G>A single nucleotide variant not provided [RCV003490557] Chr17:50186316 [GRCh38]
Chr17:48263677 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.169C>G (p.Pro57Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003517081] Chr17:50199882 [GRCh38]
Chr17:48277243 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1425dup (p.Gly476fs) duplication Osteogenesis imperfecta type I [RCV003516928] Chr17:50194756..50194757 [GRCh38]
Chr17:48272117..48272118 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4056_4060del (p.Thr1353fs) deletion Osteogenesis imperfecta type I [RCV003516930] Chr17:50185966..50185970 [GRCh38]
Chr17:48263327..48263331 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003516933] Chr17:50195666 [GRCh38]
Chr17:48273027 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2361C>T (p.Ser787=) single nucleotide variant Osteogenesis imperfecta type I [RCV003826220] Chr17:50190579 [GRCh38]
Chr17:48267940 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2505del (p.Gly836fs) deletion Osteogenesis imperfecta type I [RCV003516958] Chr17:50190055 [GRCh38]
Chr17:48267416 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.700G>T (p.Glu234Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003516771] Chr17:50197230 [GRCh38]
Chr17:48274591 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2501C>T (p.Ala834Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003516959] Chr17:50190059 [GRCh38]
Chr17:48267420 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3034del (p.Ser1012fs) deletion Osteogenesis imperfecta type I [RCV003516977] Chr17:50188914 [GRCh38]
Chr17:48266275 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1516-11C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003878133] Chr17:50194458 [GRCh38]
Chr17:48271819 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2680C>T (p.Pro894Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003880802] Chr17:50189526 [GRCh38]
Chr17:48266887 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.334-12C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517023] Chr17:50199465 [GRCh38]
Chr17:48276826 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3928A>T (p.Lys1310Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003517955] Chr17:50186394 [GRCh38]
Chr17:48263755 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2427C>G (p.Gly809=) single nucleotide variant Osteogenesis imperfecta type I [RCV003516705] Chr17:50190351 [GRCh38]
Chr17:48267712 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1615-3T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003516712] Chr17:50194186 [GRCh38]
Chr17:48271547 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.800dup (p.His267fs) duplication Osteogenesis imperfecta type I [RCV003516737] Chr17:50197013..50197014 [GRCh38]
Chr17:48274374..48274375 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1179dup (p.Pro394fs) duplication Osteogenesis imperfecta type I [RCV003517654] Chr17:50195454..50195455 [GRCh38]
Chr17:48272815..48272816 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2451+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003517655] Chr17:50190325 [GRCh38]
Chr17:48267686 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3532-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517927] Chr17:50186923 [GRCh38]
Chr17:48264284 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3798C>G (p.His1266Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003517989] Chr17:50186656 [GRCh38]
Chr17:48264017 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2258C>T (p.Ala753Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003517672] Chr17:50190902 [GRCh38]
Chr17:48268263 [GRCh37]
Chr17:17q21.33		 uncertain significance
Single allele deletion Osteogenesis imperfecta type I [RCV003494597] Chr17:48123305..48283810 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.545G>T (p.Gly182Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003516774] Chr17:50198204 [GRCh38]
Chr17:48275565 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4058C>T (p.Thr1353Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003517696] Chr17:50185968 [GRCh38]
Chr17:48263329 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.903+16del deletion Osteogenesis imperfecta type I [RCV003517702] Chr17:50196468 [GRCh38]
Chr17:48273829 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2304dup (p.Ile769fs) duplication Osteogenesis imperfecta type I [RCV003517719] Chr17:50190855..50190856 [GRCh38]
Chr17:48268216..48268217 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.552T>G (p.Ser184=) single nucleotide variant Osteogenesis imperfecta type I [RCV003517734] Chr17:50198197 [GRCh38]
Chr17:48275558 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1438del (p.Leu480fs) deletion Osteogenesis imperfecta type I [RCV003516873] Chr17:50194744 [GRCh38]
Chr17:48272105 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.487C>T (p.Leu163=) single nucleotide variant Osteogenesis imperfecta type I [RCV003517748] Chr17:50198489 [GRCh38]
Chr17:48275850 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3026C>T (p.Pro1009Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003517752] Chr17:50188922 [GRCh38]
Chr17:48266283 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+18A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003517764] Chr17:50195549 [GRCh38]
Chr17:48272910 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1451dup (p.Gly485fs) duplication Osteogenesis imperfecta type I [RCV003517768] Chr17:50194730..50194731 [GRCh38]
Chr17:48272091..48272092 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+4_3369+7del deletion Osteogenesis imperfecta type I [RCV003516908] Chr17:50187869..50187872 [GRCh38]
Chr17:48265230..48265233 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2452-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003516913] Chr17:50190125 [GRCh38]
Chr17:48267486 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3046-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV003516927] Chr17:50188797 [GRCh38]
Chr17:48266158 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.619dup (p.Glu207fs) duplication Osteogenesis imperfecta type I [RCV003517820] Chr17:50197971..50197972 [GRCh38]
Chr17:48275332..48275333 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.618T>A (p.Gly206=) single nucleotide variant Osteogenesis imperfecta type I [RCV003517821] Chr17:50197973 [GRCh38]
Chr17:48275334 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3490C>A (p.Pro1164Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003517824] Chr17:50187056 [GRCh38]
Chr17:48264417 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2719A>T (p.Lys907Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003517826] Chr17:50189487 [GRCh38]
Chr17:48266848 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.415G>T (p.Gly139Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003517832] Chr17:50199282 [GRCh38]
Chr17:48276643 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2468C>T (p.Pro823Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003517853] Chr17:50190092 [GRCh38]
Chr17:48267453 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1669-12T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003516962] Chr17:50194053 [GRCh38]
Chr17:48271414 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4329C>G (p.Ala1443=) single nucleotide variant Osteogenesis imperfecta type I [RCV003516969] Chr17:50185568 [GRCh38]
Chr17:48262929 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.725del (p.Gly242fs) deletion Osteogenesis imperfecta type I [RCV003517523] Chr17:50197205 [GRCh38]
Chr17:48274566 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2293_2306del (p.Leu765fs) deletion Osteogenesis imperfecta type I [RCV003517524] Chr17:50190854..50190867 [GRCh38]
Chr17:48268215..48268228 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1461+2dup duplication Osteogenesis imperfecta type I [RCV003516996] Chr17:50194718..50194719 [GRCh38]
Chr17:48272079..48272080 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.588+7A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517543] Chr17:50198154 [GRCh38]
Chr17:48275515 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.179TCTGCG[3] (p.Cys63_Asp64insValCys) microsatellite Osteogenesis imperfecta type I [RCV003517791] Chr17:50199860..50199861 [GRCh38]
Chr17:48277221..48277222 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3370-7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003517783] Chr17:50187544 [GRCh38]
Chr17:48264905 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.804+16del deletion Osteogenesis imperfecta type I [RCV003881291] Chr17:50196994 [GRCh38]
Chr17:48274355 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.432C>T (p.Pro144=) single nucleotide variant Osteogenesis imperfecta type I [RCV003516639] Chr17:50199265 [GRCh38]
Chr17:48276626 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3394del (p.Ser1132fs) deletion Osteogenesis imperfecta type I [RCV003517583] Chr17:50187513 [GRCh38]
Chr17:48264874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3243dup (p.Gly1082fs) duplication Osteogenesis imperfecta type I [RCV003517585] Chr17:50188113..50188114 [GRCh38]
Chr17:48265474..48265475 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2597del (p.Gly866fs) deletion Osteogenesis imperfecta type I [RCV003517851]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005014817] Chr17:50189875 [GRCh38]
Chr17:48267236 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1821+1del deletion Osteogenesis imperfecta type I [RCV003517898] Chr17:50192993 [GRCh38]
Chr17:48270354 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.22C>G (p.Arg8Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003517597] Chr17:50201492 [GRCh38]
Chr17:48278853 [GRCh37]
Chr17:17q21.33		 uncertain significance
Single allele deletion Osteogenesis imperfecta type I [RCV003494598] Chr17:48201213..48507464 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1668del (p.Gly557fs) deletion Osteogenesis imperfecta type I [RCV003494495] Chr17:50194130 [GRCh38]
Chr17:48271491 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.439C>T (p.Pro147Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003879479] Chr17:50199258 [GRCh38]
Chr17:48276619 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2937+15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003877397] Chr17:50189153 [GRCh38]
Chr17:48266514 [GRCh37]
Chr17:17q21.33		 likely benign
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
NM_000088.4(COL1A1):c.1072del (p.Gln358fs) deletion not provided [RCV003490559] Chr17:50195650 [GRCh38]
Chr17:48273011 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.544-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632199] Chr17:50198207 [GRCh38]
Chr17:48275568 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.504T>A (p.Asp168Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632231] Chr17:50198472 [GRCh38]
Chr17:48275833 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.9C>G (p.Ser3Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003632287] Chr17:50201505 [GRCh38]
Chr17:48278866 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2665_2666insGCCGGTCCTCCTGGCCCCT (p.Ser889fs) insertion Osteogenesis imperfecta type I [RCV003632194] Chr17:50189680..50189681 [GRCh38]
Chr17:48267041..48267042 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1582C>A (p.Arg528Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632256] Chr17:50194381 [GRCh38]
Chr17:48271742 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1002+3G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632248] Chr17:50196152 [GRCh38]
Chr17:48273513 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2398-11T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632135] Chr17:50190391 [GRCh38]
Chr17:48267752 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1984-5C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632298] Chr17:50192029 [GRCh38]
Chr17:48269390 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.858+4A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632296] Chr17:50196613 [GRCh38]
Chr17:48273974 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2491G>A (p.Asp831Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003811156] Chr17:50190069 [GRCh38]
Chr17:48267430 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1910C>A (p.Ala637Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003812045] Chr17:50192659 [GRCh38]
Chr17:48270020 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3310G>A (p.Asp1104Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003632132] Chr17:50187935 [GRCh38]
Chr17:48265296 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815-11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632354] Chr17:50186518 [GRCh38]
Chr17:48263879 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1740G>A (p.Met580Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003632361] Chr17:50193970 [GRCh38]
Chr17:48271331 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4317C>G (p.Ile1439Met) single nucleotide variant Osteogenesis imperfecta type I [RCV003632350] Chr17:50185580 [GRCh38]
Chr17:48262941 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3277dup (p.Arg1093fs) duplication Osteogenesis imperfecta type I [RCV003632437] Chr17:50187967..50187968 [GRCh38]
Chr17:48265328..48265329 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1380del (p.Gly461fs) deletion Osteogenesis imperfecta type I [RCV003632438] Chr17:50194802 [GRCh38]
Chr17:48272163 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.589-18T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518684] Chr17:50198020 [GRCh38]
Chr17:48275381 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.699G>A (p.Gly233=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632487] Chr17:50197231 [GRCh38]
Chr17:48274592 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3161C>T (p.Pro1054Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632545] Chr17:50188576 [GRCh38]
Chr17:48265937 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.104-11G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632555] Chr17:50199958 [GRCh38]
Chr17:48277319 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1556C>A (p.Pro519His) single nucleotide variant Osteogenesis imperfecta type I [RCV003518710] Chr17:50194407 [GRCh38]
Chr17:48271768 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.457C>T (p.Pro153Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632488] Chr17:50199240 [GRCh38]
Chr17:48276601 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2128-17del deletion Osteogenesis imperfecta type I [RCV003632491] Chr17:50191507 [GRCh38]
Chr17:48268868 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3699C>T (p.Thr1233=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632498] Chr17:50186755 [GRCh38]
Chr17:48264116 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2560-16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632530] Chr17:50189928 [GRCh38]
Chr17:48267289 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1205C>T (p.Ala402Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003632528]|not provided [RCV004790597] Chr17:50195326 [GRCh38]
Chr17:48272687 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1511C>T (p.Pro504Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632332] Chr17:50194577 [GRCh38]
Chr17:48271938 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1353T>C (p.Pro451=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632586] Chr17:50195047 [GRCh38]
Chr17:48272408 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4239T>C (p.Asp1413=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632603] Chr17:50185787 [GRCh38]
Chr17:48263148 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.517G>A (p.Gly173Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003518819] Chr17:50198459 [GRCh38]
Chr17:48275820 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.375C>T (p.Pro125=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632588] Chr17:50199322 [GRCh38]
Chr17:48276683 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3545C>A (p.Pro1182His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632602] Chr17:50186909 [GRCh38]
Chr17:48264270 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1353+19C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632464] Chr17:50195028 [GRCh38]
Chr17:48272389 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3679C>T (p.Arg1227Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632658] Chr17:50186775 [GRCh38]
Chr17:48264136 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2452-4C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632683] Chr17:50190112 [GRCh38]
Chr17:48267473 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1767+19T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518854] Chr17:50193924 [GRCh38]
Chr17:48271285 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1876G>A (p.Gly626Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003518813] Chr17:50192693 [GRCh38]
Chr17:48270054 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2452-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003518812] Chr17:50190110 [GRCh38]
Chr17:48267471 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.267C>A (p.Gly89=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632333] Chr17:50199784 [GRCh38]
Chr17:48277145 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2451+17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632685] Chr17:50190310 [GRCh38]
Chr17:48267671 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1876-6G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003631377] Chr17:50192699 [GRCh38]
Chr17:48270060 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1685A>G (p.Asp562Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003632745] Chr17:50194025 [GRCh38]
Chr17:48271386 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.201G>A (p.Lys67=) single nucleotide variant Osteogenesis imperfecta type I [RCV003835118] Chr17:50199850 [GRCh38]
Chr17:48277211 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.598G>A (p.Gly200Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003631375]|Osteogenesis imperfecta with normal sclerae, dominant form [RCV005030145] Chr17:50197993 [GRCh38]
Chr17:48275354 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.4242C>T (p.Gly1414=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632715] Chr17:50185784 [GRCh38]
Chr17:48263145 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1545C>T (p.Gly515=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632733] Chr17:50194418 [GRCh38]
Chr17:48271779 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815-1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632742] Chr17:50186508 [GRCh38]
Chr17:48263869 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.24G>A (p.Arg8=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632751] Chr17:50201490 [GRCh38]
Chr17:48278851 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1156-4A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632817] Chr17:50195482 [GRCh38]
Chr17:48272843 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3814+19C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631578] Chr17:50186621 [GRCh38]
Chr17:48263982 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2668-14C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632806] Chr17:50189552 [GRCh38]
Chr17:48266913 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2452-19G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632960] Chr17:50190127 [GRCh38]
Chr17:48267488 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2451+15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631525] Chr17:50190312 [GRCh38]
Chr17:48267673 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2127+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631531] Chr17:50191785 [GRCh38]
Chr17:48269146 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1354-4C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632889] Chr17:50194832 [GRCh38]
Chr17:48272193 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.299-4C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632808] Chr17:50199594 [GRCh38]
Chr17:48276955 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3465C>G (p.Leu1155=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631662] Chr17:50187081 [GRCh38]
Chr17:48264442 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2358C>T (p.Pro786=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631463] Chr17:50190582 [GRCh38]
Chr17:48267943 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3618A>G (p.Gln1206=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631462] Chr17:50186836 [GRCh38]
Chr17:48264197 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1156-4A>G single nucleotide variant Cardiovascular phenotype [RCV004992702]|Osteogenesis imperfecta type I [RCV003631661] Chr17:50195482 [GRCh38]
Chr17:48272843 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4248+3G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631700] Chr17:50185775 [GRCh38]
Chr17:48263136 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3424-11C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632794] Chr17:50187133 [GRCh38]
Chr17:48264494 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3262-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631672] Chr17:50188000 [GRCh38]
Chr17:48265361 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.298+20C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631733] Chr17:50199733 [GRCh38]
Chr17:48277094 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.266dup (p.Glu90fs) duplication Osteogenesis imperfecta type I [RCV003631774] Chr17:50199784..50199785 [GRCh38]
Chr17:48277145..48277146 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1057G>C (p.Gly353Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003631852] Chr17:50195665 [GRCh38]
Chr17:48273026 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.254_255insGGC (p.Glu85_Val86insAla) insertion Osteogenesis imperfecta type I [RCV003631775] Chr17:50199796..50199797 [GRCh38]
Chr17:48277157..48277158 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3701C>T (p.Thr1234Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003632866] Chr17:50186753 [GRCh38]
Chr17:48264114 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2182_2188del (p.Gly728fs) deletion Osteogenesis imperfecta type I [RCV003631865] Chr17:50191430..50191436 [GRCh38]
Chr17:48268791..48268797 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3491C>T (p.Pro1164Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003631880] Chr17:50187055 [GRCh38]
Chr17:48264416 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3795C>T (p.Cys1265=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631691] Chr17:50186659 [GRCh38]
Chr17:48264020 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1462-47_1462-18del deletion Osteogenesis imperfecta type I [RCV003631976] Chr17:50194644..50194673 [GRCh38]
Chr17:48272005..48272034 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1372G>T (p.Gly458Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003631928] Chr17:50194810 [GRCh38]
Chr17:48272171 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2208del (p.Gly737fs) deletion not provided [RCV004812102] Chr17:50191410 [GRCh38]
Chr17:48268771 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.976G>A (p.Gly326Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632064] Chr17:50196181 [GRCh38]
Chr17:48273542 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2907G>A (p.Glu969=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631714] Chr17:50189198 [GRCh38]
Chr17:48266559 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3369+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632045] Chr17:50187874 [GRCh38]
Chr17:48265235 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3481C>A (p.Pro1161Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003836237] Chr17:50187065 [GRCh38]
Chr17:48264426 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3492C>A (p.Pro1164=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632038] Chr17:50187054 [GRCh38]
Chr17:48264415 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.521G>A (p.Gly174Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632079] Chr17:50198455 [GRCh38]
Chr17:48275816 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1199A>G (p.Asn400Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632092] Chr17:50195435 [GRCh38]
Chr17:48272796 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.659G>A (p.Arg220Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003632098] Chr17:50197769 [GRCh38]
Chr17:48275130 [GRCh37]
Chr17:17q21.33		 likely benign
NC_000017.11:g.50190597del deletion Osteogenesis imperfecta type I [RCV003631656] Chr17:50190595 [GRCh38]
Chr17:48267956 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2842A>G (p.Thr948Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003632432]|not provided [RCV004790593] Chr17:50189263 [GRCh38]
Chr17:48266624 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.1310G>C (p.Gly437Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003632439] Chr17:50195090 [GRCh38]
Chr17:48272451 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.930_931del (p.Gly311fs) microsatellite Osteogenesis imperfecta type I [RCV003631780] Chr17:50196340..50196341 [GRCh38]
Chr17:48273701..48273702 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.894T>C (p.Pro298=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632489] Chr17:50196493 [GRCh38]
Chr17:48273854 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2614-1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003631839] Chr17:50189733 [GRCh38]
Chr17:48267094 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.696+11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632493] Chr17:50197721 [GRCh38]
Chr17:48275082 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1851A>G (p.Gly617=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632499] Chr17:50192821 [GRCh38]
Chr17:48270182 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1200+3A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003631859] Chr17:50195431 [GRCh38]
Chr17:48272792 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.177_178dup (p.Ile60fs) duplication Osteogenesis imperfecta type I [RCV003631869] Chr17:50199872..50199873 [GRCh38]
Chr17:48277233..48277234 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2573C>T (p.Ala858Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003632570] Chr17:50189899 [GRCh38]
Chr17:48267260 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2729G>A (p.Arg910His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632947]|not provided [RCV005052067] Chr17:50189477 [GRCh38]
Chr17:48266838 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.2667+17G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003815855] Chr17:50189662 [GRCh38]
Chr17:48267023 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518818] Chr17:50197235 [GRCh38]
Chr17:48274596 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.959G>T (p.Gly320Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003518817] Chr17:50196198 [GRCh38]
Chr17:48273559 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4046C>A (p.Ala1349Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003632597] Chr17:50185980 [GRCh38]
Chr17:48263341 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.696+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632601] Chr17:50197723 [GRCh38]
Chr17:48275084 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2856A>G (p.Gln952=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632619] Chr17:50189249 [GRCh38]
Chr17:48266610 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1430C>A (p.Pro477His) single nucleotide variant Osteogenesis imperfecta type I [RCV003518860] Chr17:50194752 [GRCh38]
Chr17:48272113 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2938-2A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003518811]|not provided [RCV004721202] Chr17:50189012 [GRCh38]
Chr17:48266373 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3208-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518810] Chr17:50188151 [GRCh38]
Chr17:48265512 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+1G>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518809] Chr17:50187875 [GRCh38]
Chr17:48265236 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1438C>G (p.Leu480Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003832557] Chr17:50194744 [GRCh38]
Chr17:48272105 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.694G>C (p.Asp232His) single nucleotide variant Osteogenesis imperfecta type I [RCV003631920] Chr17:50197734 [GRCh38]
Chr17:48275095 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4006-9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631952] Chr17:50186029 [GRCh38]
Chr17:48263390 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2938-7C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632636] Chr17:50189017 [GRCh38]
Chr17:48266378 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3807G>A (p.Trp1269Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003518808] Chr17:50186647 [GRCh38]
Chr17:48264008 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.925G>T (p.Glu309Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003631957] Chr17:50196346 [GRCh38]
Chr17:48273707 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.451G>A (p.Gly151Arg) single nucleotide variant Cardiovascular phenotype [RCV004992743]|Osteogenesis imperfecta type I [RCV003632466] Chr17:50199246 [GRCh38]
Chr17:48276607 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2236-3T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632659] Chr17:50190927 [GRCh38]
Chr17:48268288 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2139T>C (p.Gly713=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632665] Chr17:50191479 [GRCh38]
Chr17:48268840 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.977del (p.Gly326fs) deletion Osteogenesis imperfecta type I [RCV003631994] Chr17:50196180 [GRCh38]
Chr17:48273541 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1554C>G (p.Gly518=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632008] Chr17:50194409 [GRCh38]
Chr17:48271770 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2220G>A (p.Gly740=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632684] Chr17:50191398 [GRCh38]
Chr17:48268759 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1929+7C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632704] Chr17:50192633 [GRCh38]
Chr17:48269994 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1203T>C (p.Gly401=) single nucleotide variant Cardiovascular phenotype [RCV004992780]|Osteogenesis imperfecta type I [RCV003632705] Chr17:50195328 [GRCh38]
Chr17:48272689 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.642+16A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632709] Chr17:50197933 [GRCh38]
Chr17:48275294 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1056+8C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632722] Chr17:50195915 [GRCh38]
Chr17:48273276 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3332G>A (p.Arg1111His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632732] Chr17:50187913 [GRCh38]
Chr17:48265274 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3825G>T (p.Trp1275Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632741] Chr17:50186497 [GRCh38]
Chr17:48263858 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.643-20_643-19del deletion Osteogenesis imperfecta type I [RCV003631372] Chr17:50197804..50197805 [GRCh38]
Chr17:48275165..48275166 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1662C>T (p.Gly554=) single nucleotide variant Osteogenesis imperfecta type I [RCV003631411] Chr17:50194136 [GRCh38]
Chr17:48271497 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1546C>T (p.Pro516Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632067] Chr17:50194417 [GRCh38]
Chr17:48271778 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2512G>T (p.Ala838Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632076] Chr17:50190048 [GRCh38]
Chr17:48267409 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4135C>T (p.Gln1379Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003632097] Chr17:50185891 [GRCh38]
Chr17:48263252 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3714G>A (p.Leu1238=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632815] Chr17:50186740 [GRCh38]
Chr17:48264101 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003632118] Chr17:50194822 [GRCh38]
Chr17:48272183 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003632148]|not provided [RCV004765946] Chr17:50191442 [GRCh38]
Chr17:48268803 [GRCh37]
Chr17:17q21.33		 benign|uncertain significance
NM_000088.4(COL1A1):c.3099+10C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631497] Chr17:50188732 [GRCh38]
Chr17:48266093 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1984-12C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632879] Chr17:50192036 [GRCh38]
Chr17:48269397 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1354-15C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632898] Chr17:50194843 [GRCh38]
Chr17:48272204 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.885T>A (p.Asn295Lys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632909] Chr17:50196502 [GRCh38]
Chr17:48273863 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3223G>T (p.Ala1075Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003631574] Chr17:50188134 [GRCh38]
Chr17:48265495 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3213T>C (p.Pro1071=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632911] Chr17:50188144 [GRCh38]
Chr17:48265505 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3882G>A (p.Glu1294=) single nucleotide variant Cardiovascular phenotype [RCV004992789]|Osteogenesis imperfecta type I [RCV003632805] Chr17:50186440 [GRCh38]
Chr17:48263801 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1768-6C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631606] Chr17:50193053 [GRCh38]
Chr17:48270414 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2537C>T (p.Pro846Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632130] Chr17:50190023 [GRCh38]
Chr17:48267384 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.299-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV004588582] Chr17:50199591 [GRCh38]
Chr17:48276952 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632572] Chr17:50185550 [GRCh38]
Chr17:48262911 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.1353+2T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003518815] Chr17:50195045 [GRCh38]
Chr17:48272406 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1461+1G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518814] Chr17:50194720 [GRCh38]
Chr17:48272081 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1353+13G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632610] Chr17:50195034 [GRCh38]
Chr17:48272395 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2560-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632442] Chr17:50189921 [GRCh38]
Chr17:48267282 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4018G>T (p.Gly1340Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632757] Chr17:50186008 [GRCh38]
Chr17:48263369 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.697-9C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632813] Chr17:50197242 [GRCh38]
Chr17:48274603 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.29T>C (p.Leu10Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV003632855] Chr17:50201485 [GRCh38]
Chr17:48278846 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3370-18T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632916] Chr17:50187555 [GRCh38]
Chr17:48264916 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3658G>A (p.Asp1220Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003631732] Chr17:50186796 [GRCh38]
Chr17:48264157 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.889G>A (p.Ala297Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003631783] Chr17:50196498 [GRCh38]
Chr17:48273859 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2937+8C>G single nucleotide variant Osteogenesis imperfecta type I [RCV003631966] Chr17:50189160 [GRCh38]
Chr17:48266521 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.376_383del (p.Ala126fs) deletion Osteogenesis imperfecta type I [RCV003631996] Chr17:50199314..50199321 [GRCh38]
Chr17:48276675..48276682 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.544G>T (p.Gly182Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003632017] Chr17:50198205 [GRCh38]
Chr17:48275566 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3176del (p.Pro1059fs) deletion Osteogenesis imperfecta type I [RCV003632037] Chr17:50188561 [GRCh38]
Chr17:48265922 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.369+16del deletion Osteogenesis imperfecta type I [RCV003632048] Chr17:50199402 [GRCh38]
Chr17:48276763 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2937+19T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632242] Chr17:50189149 [GRCh38]
Chr17:48266510 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2457T>C (p.Ala819=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632262] Chr17:50190103 [GRCh38]
Chr17:48267464 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.124C>T (p.Gln42Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003518716] Chr17:50199927 [GRCh38]
Chr17:48277288 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1109G>T (p.Arg370Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003632519] Chr17:50195613 [GRCh38]
Chr17:48272974 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.177del (p.Ile60fs) deletion Osteogenesis imperfecta type I [RCV003631619] Chr17:50199874 [GRCh38]
Chr17:48277235 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1668+9C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631729] Chr17:50194121 [GRCh38]
Chr17:48271482 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3770G>A (p.Arg1257His) single nucleotide variant Cardiovascular phenotype [RCV004614496]|Osteogenesis imperfecta type I [RCV003632428] Chr17:50186684 [GRCh38]
Chr17:48264045 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2934C>T (p.Pro978=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632452] Chr17:50189171 [GRCh38]
Chr17:48266532 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1668+18del deletion Osteogenesis imperfecta type I [RCV003518661] Chr17:50194112 [GRCh38]
Chr17:48271473 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.278C>G (p.Pro93Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003518682] Chr17:50199773 [GRCh38]
Chr17:48277134 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4006-11C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003518714] Chr17:50186031 [GRCh38]
Chr17:48263392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.288C>G (p.Pro96=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518727] Chr17:50199763 [GRCh38]
Chr17:48277124 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1550C>G (p.Ala517Gly) single nucleotide variant Osteogenesis imperfecta type I [RCV003632540] Chr17:50194413 [GRCh38]
Chr17:48271774 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.560G>A (p.Arg187His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632551] Chr17:50198189 [GRCh38]
Chr17:48275550 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3463del (p.Leu1155fs) deletion Osteogenesis imperfecta type I [RCV003631856] Chr17:50187083 [GRCh38]
Chr17:48264444 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2567_2569del (p.Val856del) deletion Osteogenesis imperfecta type I [RCV003631876] Chr17:50189903..50189905 [GRCh38]
Chr17:48267264..48267266 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NC_000017.11:g.50189539del deletion Osteogenesis imperfecta type I [RCV003631894] Chr17:50189537 [GRCh38]
Chr17:48266898 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2398-1G>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631913] Chr17:50190381 [GRCh38]
Chr17:48267742 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1832G>A (p.Gly611Asp) single nucleotide variant Osteogenesis imperfecta type I [RCV003518742] Chr17:50192840 [GRCh38]
Chr17:48270201 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.298+11G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632591] Chr17:50199742 [GRCh38]
Chr17:48277103 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2144del (p.Pro715fs) deletion Osteogenesis imperfecta type I [RCV003631939] Chr17:50191474 [GRCh38]
Chr17:48268835 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+20C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003518807] Chr17:50187856 [GRCh38]
Chr17:48265217 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.441_458dup (p.Gly154_Leu155insProProGlyProProGly) duplication Osteogenesis imperfecta type I [RCV003632546] Chr17:50199238..50199239 [GRCh38]
Chr17:48276599..48276600 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3952C>G (p.Pro1318Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003632689] Chr17:50186370 [GRCh38]
Chr17:48263731 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3370-9G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632002] Chr17:50187546 [GRCh38]
Chr17:48264907 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2989C>T (p.Pro997Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003632706] Chr17:50188959 [GRCh38]
Chr17:48266320 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4177T>A (p.Ser1393Thr) single nucleotide variant Osteogenesis imperfecta type I [RCV003632735] Chr17:50185849 [GRCh38]
Chr17:48263210 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.97del (p.Glu33fs) deletion Osteogenesis imperfecta type I [RCV003632101] Chr17:50201417 [GRCh38]
Chr17:48278778 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1822-6C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631522] Chr17:50192856 [GRCh38]
Chr17:48270217 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2667+10T>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632810] Chr17:50189669 [GRCh38]
Chr17:48267030 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.354C>T (p.Gly118=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632893] Chr17:50199433 [GRCh38]
Chr17:48276794 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1229G>C (p.Gly410Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003632211] Chr17:50195302 [GRCh38]
Chr17:48272663 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2344-3C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003632221] Chr17:50190599 [GRCh38]
Chr17:48267960 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3552_3560del (p.1178GPP[4]) deletion Osteogenesis imperfecta type I [RCV003632277] Chr17:50186894..50186902 [GRCh38]
Chr17:48264255..48264263 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.642+13T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632129] Chr17:50197936 [GRCh38]
Chr17:48275297 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3223G>C (p.Ala1075Pro) single nucleotide variant Osteogenesis imperfecta type I [RCV003631641] Chr17:50188134 [GRCh38]
Chr17:48265495 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3713_3719dup (p.Gln1240fs) duplication Osteogenesis imperfecta type I [RCV003518654] Chr17:50186734..50186735 [GRCh38]
Chr17:48264095..48264096 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1035C>T (p.Phe345=) single nucleotide variant Osteogenesis imperfecta type I [RCV003518683] Chr17:50195944 [GRCh38]
Chr17:48273305 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2892T>C (p.Pro964=) single nucleotide variant Cardiovascular phenotype [RCV004992652]|Osteogenesis imperfecta type I [RCV003518687] Chr17:50189213 [GRCh38]
Chr17:48266574 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2159G>A (p.Ser720Asn) single nucleotide variant Osteogenesis imperfecta type I [RCV003632509] Chr17:50191459 [GRCh38]
Chr17:48268820 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.544-6C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632340] Chr17:50198211 [GRCh38]
Chr17:48275572 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4367T>G (p.Phe1456Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003631810] Chr17:50185530 [GRCh38]
Chr17:48262891 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.334G>T (p.Gly112Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV003631819] Chr17:50199453 [GRCh38]
Chr17:48276814 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3369+10C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003631866] Chr17:50187866 [GRCh38]
Chr17:48265227 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.543G>T (p.Met181Ile) single nucleotide variant Osteogenesis imperfecta type I [RCV003631900] Chr17:50198433 [GRCh38]
Chr17:48275794 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1228G>A (p.Gly410Ser) single nucleotide variant Osteogenesis imperfecta type I [RCV003518816] Chr17:50195303 [GRCh38]
Chr17:48272664 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4056G>C (p.Leu1352=) single nucleotide variant not provided [RCV003740578] Chr17:50185970 [GRCh38]
Chr17:48263331 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1353+16A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003632420] Chr17:50195031 [GRCh38]
Chr17:48272392 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1215T>G (p.Ile405Met) single nucleotide variant Osteogenesis imperfecta type I [RCV003632688] Chr17:50195316 [GRCh38]
Chr17:48272677 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.356C>G (p.Pro119Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003631681] Chr17:50199431 [GRCh38]
Chr17:48276792 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3653C>T (p.Ala1218Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003631741] Chr17:50186801 [GRCh38]
Chr17:48264162 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1669-8A>G single nucleotide variant Osteogenesis imperfecta type I [RCV003518834] Chr17:50194049 [GRCh38]
Chr17:48271410 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1107G>A (p.Val369=) single nucleotide variant Osteogenesis imperfecta type I [RCV003632729] Chr17:50195615 [GRCh38]
Chr17:48272976 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3100-11C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632759] Chr17:50188648 [GRCh38]
Chr17:48266009 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.656C>G (p.Pro219Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV003632007] Chr17:50197772 [GRCh38]
Chr17:48275133 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.900G>T (p.Gln300His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632052] Chr17:50196487 [GRCh38]
Chr17:48273848 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.159G>A (p.Trp53Ter) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV004763745]|Osteogenesis imperfecta type I [RCV003632078] Chr17:50199892 [GRCh38]
Chr17:48277253 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.3369+16C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003632873] Chr17:50187860 [GRCh38]
Chr17:48265221 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.746C>A (p.Pro249His) single nucleotide variant Osteogenesis imperfecta type I [RCV003632874] Chr17:50197184 [GRCh38]
Chr17:48274545 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.551C>T (p.Ser184Phe) single nucleotide variant Osteogenesis imperfecta type I [RCV003632110] Chr17:50198198 [GRCh38]
Chr17:48275559 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3359del (p.Pro1120fs) deletion Osteogenesis imperfecta type I [RCV003632144] Chr17:50187886 [GRCh38]
Chr17:48265247 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.751-13C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003631567] Chr17:50197076 [GRCh38]
Chr17:48274437 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1011C>G (p.Thr337=) single nucleotide variant COL1A1-related disorder [RCV004554278]|Osteogenesis imperfecta type I [RCV003631575] Chr17:50195968 [GRCh38]
Chr17:48273329 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1984-14T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003632954] Chr17:50192038 [GRCh38]
Chr17:48269399 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2980C>T (p.Arg994Cys) single nucleotide variant Osteogenesis imperfecta type I [RCV003847626] Chr17:50188968 [GRCh38]
Chr17:48266329 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.298+17G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003848777] Chr17:50199736 [GRCh38]
Chr17:48277097 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1462-14C>A single nucleotide variant Osteogenesis imperfecta type I [RCV003824433] Chr17:50194640 [GRCh38]
Chr17:48272001 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2644C>A (p.Arg882=) single nucleotide variant Osteogenesis imperfecta type I [RCV003846117] Chr17:50189702 [GRCh38]
Chr17:48267063 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3815G>A (p.Gly1272Glu) single nucleotide variant Osteogenesis imperfecta type I [RCV003843434] Chr17:50186507 [GRCh38]
Chr17:48263868 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4201G>T (p.Glu1401Ter) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV003985991] Chr17:50185825 [GRCh38]
Chr17:48263186 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2289T>C (p.Arg763=) single nucleotide variant Osteogenesis imperfecta type I [RCV003870684] Chr17:50190871 [GRCh38]
Chr17:48268232 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3486T>A (p.Ile1162=) single nucleotide variant Osteogenesis imperfecta type I [RCV003867009] Chr17:50187060 [GRCh38]
Chr17:48264421 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2443_2444delinsC (p.Gly815fs) indel Osteogenesis imperfecta type I [RCV003867369] Chr17:50190334..50190335 [GRCh38]
Chr17:48267695..48267696 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1983+17G>A single nucleotide variant Osteogenesis imperfecta type I [RCV003871681] Chr17:50192458 [GRCh38]
Chr17:48269819 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1289A>T (p.Lys430Met) single nucleotide variant Osteogenesis imperfecta type I [RCV003870308] Chr17:50195242 [GRCh38]
Chr17:48272603 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2127+17A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003869735] Chr17:50191771 [GRCh38]
Chr17:48269132 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1487C>T (p.Pro496Leu) single nucleotide variant Osteogenesis imperfecta type I [RCV003865535] Chr17:50194601 [GRCh38]
Chr17:48271962 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4050C>G (p.Ile1350Met) single nucleotide variant Osteogenesis imperfecta type I [RCV003870402] Chr17:50185976 [GRCh38]
Chr17:48263337 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3 copy number gain not specified [RCV003987260] Chr17:48176031..48440167 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3100-17C>T single nucleotide variant Osteogenesis imperfecta type I [RCV003820154] Chr17:50188654 [GRCh38]
Chr17:48266015 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1674C>A (p.Pro558=) single nucleotide variant not provided [RCV003736461] Chr17:50194036 [GRCh38]
Chr17:48271397 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2031C>T (p.Gly677=) single nucleotide variant Osteogenesis imperfecta type I [RCV003853128] Chr17:50191884 [GRCh38]
Chr17:48269245 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2128-14T>C single nucleotide variant Osteogenesis imperfecta type I [RCV003862509] Chr17:50191504 [GRCh38]
Chr17:48268865 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln) single nucleotide variant Osteogenesis imperfecta type I [RCV003860736] Chr17:50186717 [GRCh38]
Chr17:48264078 [GRCh37]
Chr17:17q21.33		 benign
NM_000088.4(COL1A1):c.2185A>G (p.Met729Val) single nucleotide variant Osteogenesis imperfecta type I [RCV003859905] Chr17:50191433 [GRCh38]
Chr17:48268794 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1563A>G (p.Gly521=) single nucleotide variant Cardiovascular phenotype [RCV004520414] Chr17:50194400 [GRCh38]
Chr17:48271761 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1665C>G (p.Pro555=) single nucleotide variant Cardiovascular phenotype [RCV004520415] Chr17:50194133 [GRCh38]
Chr17:48271494 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1717G>A (p.Ala573Thr) single nucleotide variant Cardiovascular phenotype [RCV004520416] Chr17:50193993 [GRCh38]
Chr17:48271354 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1932T>C (p.Gly644=) single nucleotide variant Cardiovascular phenotype [RCV004520417] Chr17:50192526 [GRCh38]
Chr17:48269887 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2409T>C (p.Gly803=) single nucleotide variant Cardiovascular phenotype [RCV004520418] Chr17:50190369 [GRCh38]
Chr17:48267730 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.45C>G (p.Ala15=) single nucleotide variant Cardiovascular phenotype [RCV004520423] Chr17:50201469 [GRCh38]
Chr17:48278830 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.48C>T (p.Thr16=) single nucleotide variant Cardiovascular phenotype [RCV004520424] Chr17:50201466 [GRCh38]
Chr17:48278827 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3176dup (p.Ala1060fs) duplication Osteogenesis imperfecta type I [RCV003989392] Chr17:50188560..50188561 [GRCh38]
Chr17:48265921..48265922 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4005+1del deletion COL1A1-related disorder [RCV004552736] Chr17:50186316 [GRCh38]
Chr17:48263677 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.751-2A>T single nucleotide variant Osteogenesis imperfecta type I [RCV003990051] Chr17:50197065 [GRCh38]
Chr17:48274426 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.64= (p.Gly22=) variation Osteogenesis imperfecta with normal sclerae, dominant form [RCV003991081] Chr17:50201450 [GRCh38]
Chr17:48278811 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2420C>A (p.Pro807His) single nucleotide variant not provided [RCV003993448] Chr17:50190358 [GRCh38]
Chr17:48267719 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1155+6T>C single nucleotide variant COL1A1-related disorder [RCV004548956]|not provided [RCV004723544] Chr17:50195561 [GRCh38]
Chr17:48272922 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1760G>C (p.Gly587Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV003993584]|not provided [RCV004701900] Chr17:50193950 [GRCh38]
Chr17:48271311 [GRCh37]
Chr17:17q21.33		 pathogenic|likely pathogenic
NM_000088.4(COL1A1):c.1822-2del deletion COL1A1-related disorder [RCV004554349] Chr17:50192852 [GRCh38]
Chr17:48270213 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3553_3555delinsACTCCTGGTCCC (p.Gly1184_Pro1185insThrProGly) indel COL1A1-related disorder [RCV004548997] Chr17:50186899..50186901 [GRCh38]
Chr17:48264260..48264262 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1346G>A (p.Gly449Glu) single nucleotide variant not provided [RCV003993309] Chr17:50195054 [GRCh38]
Chr17:48272415 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3153T>C (p.Pro1051=) single nucleotide variant Cardiovascular phenotype [RCV004520421] Chr17:50188584 [GRCh38]
Chr17:48265945 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2876G>T (p.Gly959Val) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004515774] Chr17:50189229 [GRCh38]
Chr17:48266590 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.4342G>C (p.Gly1448Arg) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV003985011] Chr17:50185555 [GRCh38]
Chr17:48262916 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.*240_*244del deletion COL1A1-related disorder [RCV004552794] Chr17:50185258..50185262 [GRCh38]
Chr17:48262619..48262623 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.66C>T (p.Gly22=) single nucleotide variant COL1A1-related disorder [RCV004554376] Chr17:50201448 [GRCh38]
Chr17:48278809 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*244dup duplication COL1A1-related disorder [RCV004552864] Chr17:50185257..50185258 [GRCh38]
Chr17:48262618..48262619 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4006-40G>A single nucleotide variant COL1A1-related disorder [RCV004552658] Chr17:50186060 [GRCh38]
Chr17:48263421 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1459C>A (p.Arg487Ser) single nucleotide variant not provided [RCV003887417] Chr17:50194723 [GRCh38]
Chr17:48272084 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.-9G>A single nucleotide variant COL1A1-related disorder [RCV004548914] Chr17:50201522 [GRCh38]
Chr17:48278883 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1003-30T>C single nucleotide variant COL1A1-related disorder [RCV004552788] Chr17:50196006 [GRCh38]
Chr17:48273367 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.228C>A (p.Asp76Glu) single nucleotide variant not provided [RCV003885042] Chr17:50199823 [GRCh38]
Chr17:48277184 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1544del (p.Gly515fs) deletion COL1A1-related disorder [RCV004549011] Chr17:50194419 [GRCh38]
Chr17:48271780 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.96C>G (p.Asp32Glu) single nucleotide variant not provided [RCV003885251] Chr17:50201418 [GRCh38]
Chr17:48278779 [GRCh37]
Chr17:17q21.33		 likely benign|conflicting interpretations of pathogenicity
NM_000088.4(COL1A1):c.1300-4G>A single nucleotide variant COL1A1-related disorder [RCV004554434] Chr17:50195104 [GRCh38]
Chr17:48272465 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.958-27T>G single nucleotide variant COL1A1-related disorder [RCV004554444] Chr17:50196226 [GRCh38]
Chr17:48273587 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*242_*244del deletion COL1A1-related disorder [RCV004552654] Chr17:50185258..50185260 [GRCh38]
Chr17:48262619..48262621 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.904G>C (p.Gly302Arg) single nucleotide variant COL1A1-related disorder [RCV004552842] Chr17:50196367 [GRCh38]
Chr17:48273728 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.*239_*244dup duplication COL1A1-related disorder [RCV004548872] Chr17:50185257..50185258 [GRCh38]
Chr17:48262618..48262619 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.117C>G (p.Thr39=) single nucleotide variant not provided [RCV003887726] Chr17:50199934 [GRCh38]
Chr17:48277295 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*244del deletion COL1A1-related disorder [RCV004554373] Chr17:50185258 [GRCh38]
Chr17:48262619 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3665del (p.Asn1222fs) deletion COL1A1-related disorder [RCV004548965] Chr17:50186789 [GRCh38]
Chr17:48264150 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2583C>A (p.Ala861=) single nucleotide variant Cardiovascular phenotype [RCV004520419] Chr17:50189889 [GRCh38]
Chr17:48267250 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3108T>C (p.Arg1036=) single nucleotide variant Cardiovascular phenotype [RCV004520420] Chr17:50188629 [GRCh38]
Chr17:48265990 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.60G>A (p.Thr20=) single nucleotide variant Cardiovascular phenotype [RCV004520425] Chr17:50201454 [GRCh38]
Chr17:48278815 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.370-6C>G single nucleotide variant COL1A1-related disorder [RCV004548838] Chr17:50199333 [GRCh38]
Chr17:48276694 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*241_*244dup duplication COL1A1-related disorder [RCV004552865] Chr17:50185257..50185258 [GRCh38]
Chr17:48262618..48262619 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.-7T>C single nucleotide variant COL1A1-related disorder [RCV004548920] Chr17:50201520 [GRCh38]
Chr17:48278881 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.*243_*244del deletion COL1A1-related disorder [RCV004550879] Chr17:50185258..50185259 [GRCh38]
Chr17:48262619..48262620 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2397+9A>C single nucleotide variant COL1A1-related disorder [RCV004548871] Chr17:50190534 [GRCh38]
Chr17:48267895 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.-8G>C single nucleotide variant COL1A1-related disorder [RCV004548887] Chr17:50201521 [GRCh38]
Chr17:48278882 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.761G>T (p.Gly254Val) single nucleotide variant not provided [RCV004592090] Chr17:50197053 [GRCh38]
Chr17:48274414 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.642+3A>T single nucleotide variant not provided [RCV004590879] Chr17:50197946 [GRCh38]
Chr17:48275307 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1849G>A (p.Gly617Arg) single nucleotide variant not provided [RCV004592323] Chr17:50192823 [GRCh38]
Chr17:48270184 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3973T>A (p.Trp1325Arg) single nucleotide variant Ehlers-Danlos syndrome, arthrochalasia type [RCV004566423] Chr17:50186349 [GRCh38]
Chr17:48263710 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1049G>T (p.Gly350Val) single nucleotide variant Osteogenesis imperfecta type III [RCV004548626] Chr17:50195930 [GRCh38]
Chr17:48273291 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2830-2A>C single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004548629] Chr17:50189277 [GRCh38]
Chr17:48266638 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.750+1G>T single nucleotide variant Osteogenesis imperfecta type III [RCV004548628] Chr17:50197179 [GRCh38]
Chr17:48274540 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.413_419dup (p.Pro141fs) duplication Osteogenesis imperfecta type I [RCV004566569] Chr17:50199277..50199278 [GRCh38]
Chr17:48276638..48276639 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NC_000017.10:g.(?_48274351)_(48274614_?)del deletion Osteogenesis imperfecta type I [RCV004579898] Chr17:48274351..48274614 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48268803)_(48269354_?)del deletion Osteogenesis imperfecta type I [RCV004579899] Chr17:48268803..48269354 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.615del (p.Gly206fs) deletion Osteogenesis imperfecta [RCV004586164] Chr17:50197976 [GRCh38]
Chr17:48275337 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.4225A>G (p.Ser1409Gly) single nucleotide variant Cardiovascular phenotype [RCV004994449]|not provided [RCV004696791] Chr17:50185801 [GRCh38]
Chr17:48263162 [GRCh37]
Chr17:17q21.33		 likely benign|uncertain significance
NM_000088.4(COL1A1):c.3422G>A (p.Arg1141Gln) single nucleotide variant not provided [RCV004696792] Chr17:50187485 [GRCh38]
Chr17:48264846 [GRCh37]
Chr17:17q21.33		 uncertain significance
NC_000017.10:g.(?_48276567)_(48278874_?)del deletion Osteogenesis imperfecta type I [RCV004579896] Chr17:48276567..48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NC_000017.10:g.(?_48275073)_(48278874_?)del deletion Osteogenesis imperfecta type I [RCV004579897] Chr17:48275073..48278874 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1741G>A (p.Gly581Arg) single nucleotide variant not provided [RCV004702117] Chr17:50193969 [GRCh38]
Chr17:48271330 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.995G>C (p.Gly332Ala) single nucleotide variant not provided [RCV004590957] Chr17:50196162 [GRCh38]
Chr17:48273523 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2829+2T>A single nucleotide variant Osteogenesis imperfecta [RCV004586285] Chr17:50189375 [GRCh38]
Chr17:48266736 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.658del (p.Arg220fs) deletion Osteogenesis imperfecta [RCV004587939] Chr17:50197770 [GRCh38]
Chr17:48275131 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3092G>A (p.Gly1031Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004595308] Chr17:50188749 [GRCh38]
Chr17:48266110 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.543+1del deletion Osteogenesis imperfecta type I [RCV004595312] Chr17:50198432 [GRCh38]
Chr17:48275793 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1787_1798del (p.Gly596_Gly599del) deletion Osteogenesis imperfecta, perinatal lethal [RCV004595385] Chr17:50193017..50193028 [GRCh38]
Chr17:48270378..48270389 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1040G>A (p.Gly347Asp) single nucleotide variant not provided [RCV004592223] Chr17:50195939 [GRCh38]
Chr17:48273300 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2752C>T (p.Arg918Cys) single nucleotide variant Infantile cortical hyperostosis [RCV004596035] Chr17:50189454 [GRCh38]
Chr17:48266815 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2606del (p.Gly869fs) deletion not provided [RCV004696793] Chr17:50189866 [GRCh38]
Chr17:48267227 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.467G>A (p.Gly156Glu) single nucleotide variant not provided [RCV004774800] Chr17:50199230 [GRCh38]
Chr17:48276591 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3854A>G (p.Asp1285Gly) single nucleotide variant not provided [RCV004801667] Chr17:50186468 [GRCh38]
Chr17:48263829 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1336G>A (p.Gly446Ser) single nucleotide variant not provided [RCV004722354] Chr17:50195064 [GRCh38]
Chr17:48272425 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1117C>T (p.Pro373Ser) single nucleotide variant not provided [RCV004770937] Chr17:50195605 [GRCh38]
Chr17:48272966 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.131G>A (p.Gly44Asp) single nucleotide variant COL1A1-related disorder [RCV004737763] Chr17:50199920 [GRCh38]
Chr17:48277281 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.1958G>T (p.Gly653Val) single nucleotide variant not provided [RCV004776066] Chr17:50192500 [GRCh38]
Chr17:48269861 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3049G>T (p.Ala1017Ser) single nucleotide variant not provided [RCV004794297] Chr17:50188792 [GRCh38]
Chr17:48266153 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2484_2510del (p.Glu828_Gly836del) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV004768461] Chr17:50190050..50190076 [GRCh38]
Chr17:48267411..48267437 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1327G>A (p.Gly443Arg) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004768462] Chr17:50195073 [GRCh38]
Chr17:48272434 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.877G>C (p.Gly293Arg) single nucleotide variant Osteogenesis imperfecta type I [RCV004768463] Chr17:50196510 [GRCh38]
Chr17:48273871 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.171del (p.Cys58fs) deletion Osteogenesis imperfecta type I [RCV004768464] Chr17:50199880 [GRCh38]
Chr17:48277241 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.378del (p.Gly127fs) deletion Osteogenesis imperfecta type I [RCV004776351] Chr17:50199319 [GRCh38]
Chr17:48276680 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3009_3016del (p.Gly1004fs) deletion COL1A1-related disorder [RCV004730027] Chr17:50188932..50188939 [GRCh38]
Chr17:48266293..48266300 [GRCh37]
Chr17:17q21.33		 likely pathogenic
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_000088.4(COL1A1):c.752delG deletion Osteogenesis imperfecta [RCV004700045] Chr17:50197062 [GRCh38]
Chr17:48274423 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2830-1G>C single nucleotide variant not provided [RCV004811150] Chr17:50189276 [GRCh38]
Chr17:48266637 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2588G>T (p.Gly863Val) single nucleotide variant not provided [RCV004702114] Chr17:50189884 [GRCh38]
Chr17:48267245 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1821+4_1821+7del deletion COL1A1-related disorder [RCV004728638] Chr17:50192987..50192990 [GRCh38]
Chr17:48270348..48270351 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1979A>G (p.Glu660Gly) single nucleotide variant not provided [RCV004811421] Chr17:50192479 [GRCh38]
Chr17:48269840 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2829+5G>C single nucleotide variant not provided [RCV004811428] Chr17:50189372 [GRCh38]
Chr17:48266733 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2032G>T (p.Glu678Ter) single nucleotide variant Osteogenesis imperfecta type I [RCV004701239] Chr17:50191883 [GRCh38]
Chr17:48269244 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1742G>A (p.Gly581Glu) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004795444] Chr17:50193968 [GRCh38]
Chr17:48271329 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3263del deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV004795598] Chr17:50187982 [GRCh38]
Chr17:48265343 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.3757A>G (p.Lys1253Glu) single nucleotide variant COL1A1-related disorder [RCV004736789] Chr17:50186697 [GRCh38]
Chr17:48264058 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3506G>T (p.Gly1169Val) single nucleotide variant COL1A1-related disorder [RCV004728615] Chr17:50187040 [GRCh38]
Chr17:48264401 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.370-2A>C single nucleotide variant Osteogenesis imperfecta type I [RCV004765451]   pathogenic
NM_000088.4(COL1A1):c.4208A>G (p.Asn1403Ser) single nucleotide variant COL1A1-related disorder [RCV004724304] Chr17:50185818 [GRCh38]
Chr17:48263179 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3706_3715del (p.Lys1236fs) deletion COL1A1-related disorder [RCV004729893] Chr17:50186739..50186748 [GRCh38]
Chr17:48264100..48264109 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.635G>A (p.Gly212Glu) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV004795817] Chr17:50197956 [GRCh38]
Chr17:48275317 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.440C>T (p.Pro147Leu) single nucleotide variant not provided [RCV004778179] Chr17:50199257 [GRCh38]
Chr17:48276618 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2542G>C (p.Gly848Arg) single nucleotide variant COL1A1-related disorder [RCV004726298] Chr17:50190018 [GRCh38]
Chr17:48267379 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.683del (p.Lys228fs) deletion Osteogenesis imperfecta type I [RCV004768466] Chr17:50197745 [GRCh38]
Chr17:48275106 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1532del (p.Arg511fs) deletion Osteogenesis imperfecta type I [RCV004768467] Chr17:50194431 [GRCh38]
Chr17:48271792 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.668dup (p.Gly224fs) duplication Osteogenesis imperfecta type I [RCV004768468] Chr17:50197759..50197760 [GRCh38]
Chr17:48275120..48275121 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2449C>G (p.Pro817Ala) single nucleotide variant not provided [RCV004722215] Chr17:50190329 [GRCh38]
Chr17:48267690 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2451del (p.Gly818fs) deletion not provided [RCV004702115] Chr17:50190327 [GRCh38]
Chr17:48267688 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1913G>T (p.Gly638Val) single nucleotide variant not provided [RCV004702116] Chr17:50192656 [GRCh38]
Chr17:48270017 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.1004G>C (p.Gly335Ala) single nucleotide variant Osteogenesis imperfecta type I [RCV004765093] Chr17:50195975 [GRCh38]
Chr17:48273336 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2788C>T (p.Pro930Ser) single nucleotide variant not provided [RCV004761726]   uncertain significance
NM_000088.4(COL1A1):c.2444G>A (p.Gly815Asp) single nucleotide variant Osteogenesis imperfecta, perinatal lethal [RCV004765439]   pathogenic
NM_000088.4(COL1A1):c.3490_3491delinsA (p.Pro1164fs) indel COL1A1-related disorder [RCV004724408] Chr17:50187055..50187056 [GRCh38]
Chr17:48264416..48264417 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1007C>G (p.Pro336Arg) single nucleotide variant not provided [RCV004776049] Chr17:50195972 [GRCh38]
Chr17:48273333 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2339A>G (p.Asp780Gly) single nucleotide variant not provided [RCV004727339] Chr17:50190821 [GRCh38]
Chr17:48268182 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.896G>A (p.Gly299Asp) single nucleotide variant not provided [RCV004702118] Chr17:50196491 [GRCh38]
Chr17:48273852 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.3145G>A (p.Gly1049Ser) single nucleotide variant COL1A1-related disorder [RCV004729699] Chr17:50188592 [GRCh38]
Chr17:48265953 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2235+5G>C single nucleotide variant not provided [RCV004719534] Chr17:50191378 [GRCh38]
Chr17:48268739 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.1002+5del deletion not provided [RCV004719535] Chr17:50196150 [GRCh38]
Chr17:48273511 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.643G>A (p.Gly215Ser) single nucleotide variant not provided [RCV004719588] Chr17:50197785 [GRCh38]
Chr17:48275146 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2806T>A (p.Ser936Thr) single nucleotide variant COL1A1-related disorder [RCV004737669] Chr17:50189400 [GRCh38]
Chr17:48266761 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2762_2769del (p.Glu921fs) deletion COL1A1-related disorder [RCV004737670] Chr17:50189437..50189444 [GRCh38]
Chr17:48266798..48266805 [GRCh37]
Chr17:17q21.33		 pathogenic
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
NM_000088.4(COL1A1):c.3366del (p.Pro1123fs) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV005052984] Chr17:50187879 [GRCh38]
Chr17:48265240 [GRCh37]		 likely pathogenic
NM_000088.4(COL1A1):c.43del (p.Ala15fs) deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV005052986] Chr17:50201471 [GRCh38]
Chr17:48278832 [GRCh37]		 pathogenic
NM_000088.4(COL1A1):c.4027T>C (p.Ser1343Pro) single nucleotide variant Cardiovascular phenotype [RCV004995190] Chr17:50185999 [GRCh38]
Chr17:48263360 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.195C>T (p.Asn65=) single nucleotide variant Cardiovascular phenotype [RCV004995196] Chr17:50199856 [GRCh38]
Chr17:48277217 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.409C>A (p.Gln137Lys) single nucleotide variant Cardiovascular phenotype [RCV004995198] Chr17:50199288 [GRCh38]
Chr17:48276649 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.3135T>G (p.Pro1045=) single nucleotide variant Cardiovascular phenotype [RCV004995199] Chr17:50188602 [GRCh38]
Chr17:48265963 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3117C>T (p.Thr1039=) single nucleotide variant Cardiovascular phenotype [RCV004995210] Chr17:50188620 [GRCh38]
Chr17:48265981 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2739T>G (p.Thr913=) single nucleotide variant Cardiovascular phenotype [RCV004995215] Chr17:50189467 [GRCh38]
Chr17:48266828 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2964T>C (p.Ser988=) single nucleotide variant Cardiovascular phenotype [RCV004995216] Chr17:50188984 [GRCh38]
Chr17:48266345 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3003C>T (p.Gly1001=) single nucleotide variant Cardiovascular phenotype [RCV004995218] Chr17:50188945 [GRCh38]
Chr17:48266306 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.370-2_370-1dup duplication Osteogenesis imperfecta with normal sclerae, dominant form [RCV005052985] Chr17:50199327..50199328 [GRCh38]
Chr17:48276688..48276689 [GRCh37]		 likely pathogenic
NM_000088.4(COL1A1):c.1963G>A (p.Ala655Thr) single nucleotide variant Cardiovascular phenotype [RCV004995193] Chr17:50192495 [GRCh38]
Chr17:48269856 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2994T>C (p.Gly998=) single nucleotide variant Cardiovascular phenotype [RCV004995194] Chr17:50188954 [GRCh38]
Chr17:48266315 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1659T>C (p.Thr553=) single nucleotide variant Cardiovascular phenotype [RCV004995200] Chr17:50194139 [GRCh38]
Chr17:48271500 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.81A>G (p.Gln27=) single nucleotide variant Cardiovascular phenotype [RCV004995201] Chr17:50201433 [GRCh38]
Chr17:48278794 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1956A>T (p.Pro652=) single nucleotide variant Cardiovascular phenotype [RCV004995204] Chr17:50192502 [GRCh38]
Chr17:48269863 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.915C>T (p.Gly305=) single nucleotide variant Cardiovascular phenotype [RCV004995213] Chr17:50196356 [GRCh38]
Chr17:48273717 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.437C>T (p.Pro146Leu) single nucleotide variant Cardiovascular phenotype [RCV004995214] Chr17:50199260 [GRCh38]
Chr17:48276621 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2829+2_2830del deletion Osteogenesis imperfecta with normal sclerae, dominant form [RCV005052983] Chr17:50189275..50189375 [GRCh38]
Chr17:48266636..48266736 [GRCh37]		 likely pathogenic
NM_000088.4(COL1A1):c.2094G>A (p.Gly698=) single nucleotide variant Cardiovascular phenotype [RCV004995195] Chr17:50191821 [GRCh38]
Chr17:48269182 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2008C>T (p.Pro670Ser) single nucleotide variant Cardiovascular phenotype [RCV004995197] Chr17:50192000 [GRCh38]
Chr17:48269361 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.4309C>T (p.Leu1437=) single nucleotide variant Cardiovascular phenotype [RCV004995202] Chr17:50185588 [GRCh38]
Chr17:48262949 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4059C>T (p.Thr1353=) single nucleotide variant Cardiovascular phenotype [RCV004995205] Chr17:50185967 [GRCh38]
Chr17:48263328 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4344T>C (p.Gly1448=) single nucleotide variant Cardiovascular phenotype [RCV004995207] Chr17:50185553 [GRCh38]
Chr17:48262914 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.87G>A (p.Glu29=) single nucleotide variant Cardiovascular phenotype [RCV004995208] Chr17:50201427 [GRCh38]
Chr17:48278788 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1650T>G (p.Asp550Glu) single nucleotide variant Cardiovascular phenotype [RCV004995191] Chr17:50194148 [GRCh38]
Chr17:48271509 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2439T>C (p.Phe813=) single nucleotide variant Cardiovascular phenotype [RCV004995211] Chr17:50190339 [GRCh38]
Chr17:48267700 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.2631T>C (p.Pro877=) single nucleotide variant Cardiovascular phenotype [RCV004995217] Chr17:50189715 [GRCh38]
Chr17:48267076 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.75A>G (p.Glu25=) single nucleotide variant Cardiovascular phenotype [RCV004995203] Chr17:50201439 [GRCh38]
Chr17:48278800 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4233T>C (p.Thr1411=) single nucleotide variant Cardiovascular phenotype [RCV004995212] Chr17:50185793 [GRCh38]
Chr17:48263154 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3240T>C (p.Pro1080=) single nucleotide variant Cardiovascular phenotype [RCV004995192] Chr17:50188117 [GRCh38]
Chr17:48265478 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.4197C>G (p.Arg1399=) single nucleotide variant Cardiovascular phenotype [RCV004995206] Chr17:50185829 [GRCh38]
Chr17:48263190 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.1563A>T (p.Gly521=) single nucleotide variant Osteogenesis imperfecta with normal sclerae, dominant form [RCV005023805] Chr17:50194400 [GRCh38]
Chr17:48271761 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_000088.4(COL1A1):c.2037_2038del (p.Gly680fs) microsatellite Osteogenesis imperfecta type I [RCV005000613] Chr17:50191877..50191878 [GRCh38]
Chr17:48269238..48269239 [GRCh37]
Chr17:17q21.33		 likely pathogenic
NM_000088.4(COL1A1):c.2426dup (p.Ala811fs) duplication not provided [RCV005003855] Chr17:50190351..50190352 [GRCh38]
Chr17:48267712..48267713 [GRCh37]
Chr17:17q21.33		 pathogenic
NM_000088.4(COL1A1):c.2262T>C (p.Asp754=) single nucleotide variant Cardiovascular phenotype [RCV003360715] Chr17:50190898 [GRCh38]
Chr17:48268259 [GRCh37]
Chr17:17q21.33		 likely benign
NM_000088.4(COL1A1):c.3495T>C (p.Pro1165=) single nucleotide variant Cardiovascular phenotype [RCV003360714] Chr17:50187051 [GRCh38]
Chr17:48264412 [GRCh37]
Chr17:17q21.33		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI19913496
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20657750
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoReporter assayFunctional MTI21769867
MIR29Chsa-miR-29c-3pMirecordsexternal_infoNANA18390668
MIR143hsa-miR-143-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRNon-Functional MTI19913496
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//qRT-PCRFunctional MTI19913496
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI20657750
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoReporter assayFunctional MTI21769867

Predicted Target Of
Summary Value
Count of predictions:5344
Count of miRNA genes:1180
Interacting mature miRNAs:1508
Transcripts:ENST00000225964, ENST00000463440, ENST00000471344, ENST00000474644, ENST00000476387, ENST00000485870, ENST00000486572, ENST00000494334, ENST00000495677, ENST00000504289, ENST00000507689, ENST00000510710, ENST00000511732
Prediction methods:Microtar, Miranda, Pita, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597220200GWAS1316274_Hcorneal resistance factor QTL GWAS1316274 (human)1e-18corneal resistance factor175019579450195795Human
597210300GWAS1306374_Hkeratoconus QTL GWAS1306374 (human)3e-09keratoconus175019166050191661Human
597249133GWAS1345207_Hcentral corneal thickness QTL GWAS1345207 (human)1e-13central corneal thickness175019579450195795Human
407087114GWAS736090_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count QTL GWAS736090 (human)1e-08neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, obsolete_red blood cell distribution width, basophil count, platelet count, eosinophil count175018482050184825Human
596979753GWAS1099272_Hneutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count QTL GWAS1099272 (human)1e-08neutrophil count, mean platelet volume, leukocyte count, erythrocyte count, mean corpuscular hemoglobin concentration, mean corpuscular volume, monocyte count, basophil count, platelet count, eosinophil count175018482050184825Human
597318470GWAS1414544_Hopioid dependence QTL GWAS1414544 (human)0.0000008opioid dependence175019273750192738Human
597226069GWAS1322143_Hheel bone mineral density QTL GWAS1322143 (human)2e-17heel bone mineral densitybone mineral density (CMO:0001226)175018541450185415Human
407025135GWAS674111_Hbreast carcinoma QTL GWAS674111 (human)8e-08mammary gland integrity trait (VT:0010552)175019693050196931Human

Markers in Region
SGC32927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,261,464 - 48,261,615UniSTSGRCh37
Build 361745,616,463 - 45,616,614RGDNCBI36
Celera1744,722,310 - 44,722,461RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,630,136 - 43,630,287UniSTS
GeneMap99-GB4 RH Map17354.38UniSTS
Whitehead-RH Map17388.6UniSTS
Col1a1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,264,161 - 48,266,341UniSTSGRCh37
GRCh371748,264,081 - 48,264,204UniSTSGRCh37
Build 361745,619,160 - 45,621,340RGDNCBI36
Celera1744,725,009 - 44,727,189RGD
Celera1744,724,929 - 44,725,052UniSTS
HuRef1743,632,561 - 43,632,684UniSTS
HuRef1743,632,641 - 43,634,821UniSTS
GDB:177792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,265,296 - 48,266,143UniSTSGRCh37
Build 361745,620,295 - 45,621,142RGDNCBI36
Celera1744,726,144 - 44,726,991RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,633,776 - 43,634,623UniSTS
GDB:180347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,275,430 - 48,276,469UniSTSGRCh37
Build 361745,630,429 - 45,631,468RGDNCBI36
Celera1744,736,279 - 44,737,319RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,643,912 - 43,644,952UniSTS
GDB:180975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,273,132 - 48,273,363UniSTSGRCh37
Build 361745,628,131 - 45,628,362RGDNCBI36
Celera1744,733,982 - 44,734,213RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,641,614 - 43,641,845UniSTS
fj67h06.x1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,262,936 - 48,263,284UniSTSGRCh37
Build 361745,617,935 - 45,618,283RGDNCBI36
Celera1744,723,784 - 44,724,132RGD
HuRef1743,631,416 - 43,631,764UniSTS
PMC34669P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,263,283 - 48,264,028UniSTSGRCh37
Build 361745,618,282 - 45,619,027RGDNCBI36
Celera1744,724,131 - 44,724,876RGD
HuRef1743,631,763 - 43,632,508UniSTS
COL1A1_1682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,261,331 - 48,262,079UniSTSGRCh37
Build 361745,616,330 - 45,617,078RGDNCBI36
Celera1744,722,177 - 44,722,925RGD
HuRef1743,630,003 - 43,630,751UniSTS
WI-18942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,262,741 - 48,262,993UniSTSGRCh37
Build 361745,617,740 - 45,617,992RGDNCBI36
Celera1744,723,589 - 44,723,841RGD
Cytogenetic Map17q21.33UniSTS
GeneMap99-GB4 RH Map17339.53UniSTS
Whitehead-RH Map17381.6UniSTS
RH45119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,263,271 - 48,263,764UniSTSGRCh37
Build 361745,618,270 - 45,618,763RGDNCBI36
Celera1744,724,119 - 44,724,612RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,631,751 - 43,632,244UniSTS
GeneMap99-GB4 RH Map17351.48UniSTS
NCBI RH Map17604.8UniSTS
RH77855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,271,317 - 48,271,542UniSTSGRCh37
Build 361745,626,316 - 45,626,541RGDNCBI36
Celera1744,732,167 - 44,732,392RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,639,799 - 43,640,024UniSTS
GeneMap99-GB4 RH Map17351.48UniSTS
NCBI RH Map17604.8UniSTS
MARC_5785-5786:991939715:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,262,993 - 48,263,711UniSTSGRCh37
Build 361745,617,992 - 45,618,710RGDNCBI36
Celera1744,723,841 - 44,724,559RGD
HuRef1743,631,473 - 43,632,191UniSTS
MARC_5219-5220:996690145:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,263,322 - 48,264,100UniSTSGRCh37
Build 361745,618,321 - 45,619,099RGDNCBI36
Celera1744,724,170 - 44,724,948RGD
HuRef1743,631,802 - 43,632,580UniSTS
GDB:177260  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Col1a1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,264,161 - 48,266,341UniSTSGRCh37
GRCh371748,264,081 - 48,264,204UniSTSGRCh37
Build 361745,619,160 - 45,621,340RGDNCBI36
Celera1744,725,009 - 44,727,189RGD
Celera1744,724,929 - 44,725,052UniSTS
HuRef1743,632,561 - 43,632,684UniSTS
HuRef1743,632,641 - 43,634,821UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2238 4945 1723 2349 6 621 1864 464 2265 7219 6389 53 3712 850 1741 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB827394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF128441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ590066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC011917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ236861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX573431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K01228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M32798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ496881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ496882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S58915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S64717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z74615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000225964   ⟹   ENSP00000225964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,184,101 - 50,201,631 (-)Ensembl
Ensembl Acc Id: ENST00000463440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,193,486 - 50,194,352 (-)Ensembl
Ensembl Acc Id: ENST00000471344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,193,550 - 50,195,665 (-)Ensembl
Ensembl Acc Id: ENST00000474644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,199,278 - 50,201,632 (-)Ensembl
Ensembl Acc Id: ENST00000476387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,190,909 - 50,194,058 (-)Ensembl
Ensembl Acc Id: ENST00000485870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,196,079 - 50,196,595 (-)Ensembl
Ensembl Acc Id: ENST00000486572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,187,607 - 50,188,554 (-)Ensembl
Ensembl Acc Id: ENST00000494334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,190,309 - 50,190,924 (-)Ensembl
Ensembl Acc Id: ENST00000495677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,196,520 - 50,198,702 (-)Ensembl
Ensembl Acc Id: ENST00000504289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,191,866 - 50,192,439 (-)Ensembl
Ensembl Acc Id: ENST00000507689   ⟹   ENSP00000460459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,199,289 - 50,200,191 (-)Ensembl
Ensembl Acc Id: ENST00000510710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,185,844 - 50,187,122 (-)Ensembl
Ensembl Acc Id: ENST00000511732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,187,892 - 50,188,784 (-)Ensembl
RefSeq Acc Id: NM_000088   ⟹   NP_000079
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,184,101 - 50,201,631 (-)NCBI
GRCh371748,261,457 - 48,279,003 (-)NCBI
Build 361745,616,456 - 45,633,999 (-)NCBI Archive
HuRef1743,630,129 - 43,647,463 (-)ENTREZGENE
CHM1_11748,325,754 - 48,343,284 (-)NCBI
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257058   ⟹   XP_005257115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,184,101 - 50,201,631 (-)NCBI
GRCh371748,261,457 - 48,279,003 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005257059   ⟹   XP_005257116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,184,101 - 50,201,631 (-)NCBI
GRCh371748,261,457 - 48,279,003 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524341   ⟹   XP_011522643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,184,101 - 50,201,631 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054315081   ⟹   XP_054171056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBI
RefSeq Acc Id: XM_054315082   ⟹   XP_054171057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBI
RefSeq Acc Id: XM_054315083   ⟹   XP_054171058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,051,162 - 51,068,680 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000079 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257115 (Get FASTA)   NCBI Sequence Viewer  
  XP_005257116 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522643 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171058 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51847 (Get FASTA)   NCBI Sequence Viewer  
  AAA51992 (Get FASTA)   NCBI Sequence Viewer  
  AAA51993 (Get FASTA)   NCBI Sequence Viewer  
  AAA51995 (Get FASTA)   NCBI Sequence Viewer  
  AAA52036 (Get FASTA)   NCBI Sequence Viewer  
  AAA52049 (Get FASTA)   NCBI Sequence Viewer  
  AAA52052 (Get FASTA)   NCBI Sequence Viewer  
  AAA52289 (Get FASTA)   NCBI Sequence Viewer  
  AAA52290 (Get FASTA)   NCBI Sequence Viewer  
  AAA52291 (Get FASTA)   NCBI Sequence Viewer  
  AAA60150 (Get FASTA)   NCBI Sequence Viewer  
  AAA75385 (Get FASTA)   NCBI Sequence Viewer  
  AAA75386 (Get FASTA)   NCBI Sequence Viewer  
  AAB20350 (Get FASTA)   NCBI Sequence Viewer  
  AAB26324 (Get FASTA)   NCBI Sequence Viewer  
  AAB27677 (Get FASTA)   NCBI Sequence Viewer  
  AAB27856 (Get FASTA)   NCBI Sequence Viewer  
  AAB59363 (Get FASTA)   NCBI Sequence Viewer  
  AAB59373 (Get FASTA)   NCBI Sequence Viewer  
  AAB94054 (Get FASTA)   NCBI Sequence Viewer  
  AAD32608 (Get FASTA)   NCBI Sequence Viewer  
  AAH36531 (Get FASTA)   NCBI Sequence Viewer  
  AAN86574 (Get FASTA)   NCBI Sequence Viewer  
  AFD28984 (Get FASTA)   NCBI Sequence Viewer  
  AGO43920 (Get FASTA)   NCBI Sequence Viewer  
  BAD92834 (Get FASTA)   NCBI Sequence Viewer  
  BAH12658 (Get FASTA)   NCBI Sequence Viewer  
  CAA25082 (Get FASTA)   NCBI Sequence Viewer  
  CAA25394 (Get FASTA)   NCBI Sequence Viewer  
  CAA29605 (Get FASTA)   NCBI Sequence Viewer  
  CAA30731 (Get FASTA)   NCBI Sequence Viewer  
  CAA98968 (Get FASTA)   NCBI Sequence Viewer  
  CCO13712 (Get FASTA)   NCBI Sequence Viewer  
  CDL93516 (Get FASTA)   NCBI Sequence Viewer  
  CDM55394 (Get FASTA)   NCBI Sequence Viewer  
  CDM55575 (Get FASTA)   NCBI Sequence Viewer  
  EAW94630 (Get FASTA)   NCBI Sequence Viewer  
  EAW94631 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000225964
  ENSP00000225964.6
  ENSP00000460459.1
GenBank Protein P02452 (Get FASTA)   NCBI Sequence Viewer  
  XKC16830 (Get FASTA)   NCBI Sequence Viewer  
  XKC16831 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000079   ⟸   NM_000088
- Peptide Label: preproprotein
- UniProtKB: Q9UML6 (UniProtKB/Swiss-Prot),   Q8N473 (UniProtKB/Swiss-Prot),   Q8IVI5 (UniProtKB/Swiss-Prot),   Q7KZ34 (UniProtKB/Swiss-Prot),   Q7KZ30 (UniProtKB/Swiss-Prot),   Q59F64 (UniProtKB/Swiss-Prot),   Q16050 (UniProtKB/Swiss-Prot),   Q15201 (UniProtKB/Swiss-Prot),   Q15176 (UniProtKB/Swiss-Prot),   Q14992 (UniProtKB/Swiss-Prot),   Q14037 (UniProtKB/Swiss-Prot),   Q13903 (UniProtKB/Swiss-Prot),   Q13902 (UniProtKB/Swiss-Prot),   Q13896 (UniProtKB/Swiss-Prot),   P78441 (UniProtKB/Swiss-Prot),   O76045 (UniProtKB/Swiss-Prot),   Q9UMM7 (UniProtKB/Swiss-Prot),   P02452 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257116   ⟸   XM_005257059
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005257115   ⟸   XM_005257058
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522643   ⟸   XM_011524341
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000460459   ⟸   ENST00000507689
Ensembl Acc Id: ENSP00000225964   ⟸   ENST00000225964
RefSeq Acc Id: XP_054171058   ⟸   XM_054315083
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054171056   ⟸   XM_054315081
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054171057   ⟸   XM_054315082
- Peptide Label: isoform X2
Protein Domains
Fibrillar collagen NC1   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02452-F1-model_v2 AlphaFold P02452 1-1464 view protein structure

Promoters
RGD ID:6811148
Promoter ID:HG_ACW:35233
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:COL1A1.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,625,201 - 45,625,701 (-)MPROMDB
RGD ID:6811149
Promoter ID:HG_ACW:35234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3
Transcripts:COL1A1.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,632,161 - 45,633,262 (-)MPROMDB
RGD ID:6849504
Promoter ID:EP25034
Type:single initiation site
Name:HS_COL1A1
Description:alpha 1 type I collagen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 134; Mammalian alpha 1 type I collagen.
Tissues & Cell Lines:fibroblasts
Experiment Methods:Nuclease protection with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,633,994 - 45,634,054EPD
RGD ID:7235635
Promoter ID:EPDNEW_H23562
Type:initiation region
Name:COL1A1_1
Description:collagen type I alpha 1 chain
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
GRCh381750,201,631 - 50,201,691EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2197 AgrOrtholog
COSMIC COL1A1 COSMIC
Ensembl Genes ENSG00000108821 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225964 ENTREZGENE
  ENST00000225964.10 UniProtKB/Swiss-Prot
  ENST00000507689.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.1000 UniProtKB/Swiss-Prot
  6-Phosphogluconate Dehydrogenase, domain 3 UniProtKB/Swiss-Prot
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108821 GTEx
HGNC ID HGNC:2197 ENTREZGENE
Human Proteome Map COL1A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen_superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRIM1 UniProtKB/TrEMBL
  Fib_collagen_C UniProtKB/Swiss-Prot
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1277 UniProtKB/Swiss-Prot
NCBI Gene 1277 ENTREZGENE
OMIM 120150 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(X) CHAIN UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  CYSTEINE-RICH MOTOR NEURON 1 PROTEIN UniProtKB/TrEMBL
Pfam COLFI UniProtKB/Swiss-Prot
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB COL1A1 RGD, PharmGKB
PROSITE NC1_FIB UniProtKB/Swiss-Prot
  VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART COLFI UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CO1A1_HUMAN UniProtKB/Swiss-Prot
  H9C5C5_HUMAN UniProtKB/TrEMBL
  I3L3H7_HUMAN UniProtKB/TrEMBL
  L0R6F3_HUMAN UniProtKB/TrEMBL
  O00604_HUMAN UniProtKB/TrEMBL
  O76045 ENTREZGENE
  P02452 ENTREZGENE
  P78441 ENTREZGENE
  Q13896 ENTREZGENE
  Q13902 ENTREZGENE
  Q13903 ENTREZGENE
  Q14037 ENTREZGENE
  Q14992 ENTREZGENE
  Q15176 ENTREZGENE
  Q15201 ENTREZGENE
  Q16050 ENTREZGENE
  Q16053_HUMAN UniProtKB/TrEMBL
  Q59F64 ENTREZGENE
  Q6LAN8_HUMAN UniProtKB/TrEMBL
  Q7KZ30 ENTREZGENE
  Q7KZ34 ENTREZGENE
  Q8IVI5 ENTREZGENE
  Q8N473 ENTREZGENE
  Q9UE86_HUMAN UniProtKB/TrEMBL
  Q9UMA6_HUMAN UniProtKB/TrEMBL
  Q9UML6 ENTREZGENE
  Q9UMM7 ENTREZGENE
  Q9UNF2_HUMAN UniProtKB/TrEMBL
  T1RTD8_HUMAN UniProtKB/TrEMBL
UniProt Secondary O76045 UniProtKB/Swiss-Prot
  P78441 UniProtKB/Swiss-Prot
  Q13896 UniProtKB/Swiss-Prot
  Q13902 UniProtKB/Swiss-Prot
  Q13903 UniProtKB/Swiss-Prot
  Q14037 UniProtKB/Swiss-Prot
  Q14992 UniProtKB/Swiss-Prot
  Q15176 UniProtKB/Swiss-Prot
  Q15201 UniProtKB/Swiss-Prot
  Q16050 UniProtKB/Swiss-Prot
  Q59F64 UniProtKB/Swiss-Prot
  Q7KZ30 UniProtKB/Swiss-Prot
  Q7KZ34 UniProtKB/Swiss-Prot
  Q8IVI5 UniProtKB/Swiss-Prot
  Q8N473 UniProtKB/Swiss-Prot
  Q9UML6 UniProtKB/Swiss-Prot
  Q9UMM7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 COL1A1  collagen type I alpha 1 chain  COL1A1  collagen type I alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL1A1  collagen type I alpha 1  COL1A1  collagen, type I, alpha 1  Symbol and/or name change 5135510 APPROVED