COL3A1 (collagen type III alpha 1 chain) - Rat Genome Database

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Gene: COL3A1 (collagen type III alpha 1 chain) Homo sapiens
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Symbol: COL3A1
Name: collagen type III alpha 1 chain
RGD ID: 737225
HGNC Page HGNC:2201
Description: Enables integrin binding activity; platelet-derived growth factor binding activity; and protease binding activity. An extracellular matrix structural constituent. Involved in several processes, including cell surface receptor signaling pathway; cell-matrix adhesion; and collagen fibril organization. Located in collagen-containing extracellular matrix and extracellular space. Part of collagen type III trimer. Implicated in Ehlers-Danlos syndrome; Ehlers-Danlos syndrome hypermobility type; end stage renal disease; and vascular type Ehlers-Danlos syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1 type III collagen; alpha1 (III) collagen; collagen alpha-1(III) chain; collagen type III alpha 1; collagen, fetal; collagen, type III, alpha 1; EDS4A; EDSVASC; Ehlers-Danlos syndrome type IV, autosomal dominant; FLJ34534; PMGEDSV
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
GRCh382188,974,373 - 189,012,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)EnsemblGRCh38hg38GRCh38
GRCh372189,839,099 - 189,877,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362189,547,344 - 189,585,717 (+)NCBINCBI36Build 36hg18NCBI36
Build 342189,664,604 - 189,702,978NCBI
Celera2183,433,958 - 183,472,272 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2181,698,732 - 181,737,119 (+)NCBIHuRef
CHM1_12189,845,032 - 189,883,377 (+)NCBICHM1_1
T2T-CHM13v2.02189,463,283 - 189,501,589 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Otitis Media  (ISO)
alcoholic liver cirrhosis  (EXP)
Aneurysm  (IAGP)
aortic aneurysm  (IAGP)
aortic disease  (IAGP)
aortic valve insufficiency  (EXP)
ARTERIAL DISSECTION  (IAGP)
bladder neck obstruction  (ISO)
Cardiac Fibrosis  (ISO)
Chemical and Drug Induced Liver Injury  (EXP)
connective tissue disease  (IAGP)
Contracture  (ISO)
Disproportionate Tall Stature  (IAGP)
Ehlers-Danlos syndrome  (EXP,IAGP,ISO)
Ehlers-Danlos syndrome classic type 1  (IAGP)
Ehlers-Danlos syndrome hypermobility type  (IAGP)
Ehlers-Danlos Syndrome Type 4  (IAGP)
end stage renal disease  (IAGP)
endomyocardial fibrosis  (EXP)
epilepsy  (IAGP)
Experimental Liver Cirrhosis  (EXP)
extrahepatic cholestasis  (EXP)
facioscapulohumeral muscular dystrophy  (EXP)
Familial Thoracic Aortic Aneurysm 1  (IAGP)
Familial Thoracic Aortic Aneurysm 2  (IAGP)
Fibrosis  (EXP)
genetic disease  (IAGP)
glomerulosclerosis  (ISO)
hereditary spastic paraplegia 4  (IAGP)
Hypercholesterolemia  (EXP)
hyperglycemia  (EXP)
hyperinsulinism  (EXP)
hypertension  (EXP)
immunodeficiency 31B  (IAGP)
Keloid  (EXP)
Kidney Reperfusion Injury  (ISO)
Left Ventricular Hypertrophy  (EXP)
liver cirrhosis  (EXP)
liver disease  (EXP)
Loeys-Dietz syndrome  (IAGP)
Lung Reperfusion Injury  (ISO)
Marfan syndrome  (IAGP)
Marfanoid Hypermobility Syndrome  (IAGP)
Maxillofacial Abnormalities  (ISO)
megacolon  (IAGP)
Mycoplasma pneumoniae pneumonia  (HEP)
myocardial infarction  (ISO)
nephrosclerosis  (EXP)
Neurodevelopmental Disorders  (IAGP)
obesity  (ISO)
Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome  (IAGP)
pulmonary fibrosis  (EXP,ISO)
renal fibrosis  (ISO)
rheumatic heart disease  (ISO)
schizophrenia  (EXP)
steatotic liver disease  (EXP)
systemic scleroderma  (ISS)
thoracic aortic aneurysm  (IAGP)
Transplant Rejection  (IEP)
type 2 diabetes mellitus  (ISO)
ureteral obstruction  (EXP)
vascular type Ehlers-Danlos syndrome  (IAGP,ISS)
Ventral Hernia  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-citrinin  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(-)-selegiline  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
2-butoxyethanol  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
Ac-Ser-Asp-Lys-Pro-OH  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
Activin A  (ISO)
adenine  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
aldehydo-D-glucose  (EXP,ISO)
aldosterone  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
ambroxol  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (ISO)
andrographolide  (EXP,ISO)
angiotensin II  (ISO)
anthocyanin  (ISO)
apocynin  (ISO)
arotinoid acid  (EXP)
arsenic acid  (ISO)
arsenite(3-)  (EXP,ISO)
atrazine  (ISO)
azelastine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
berberine  (ISO)
beta-D-glucosamine  (ISO)
bilirubin IXalpha  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (EXP,ISO)
boron nitride  (EXP)
bucladesine  (EXP)
buspirone  (ISO)
busulfan  (EXP)
C.I. Natural Red 20  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
camostat  (ISO)
Candesartan cilexetil  (ISO)
cannabidiol  (EXP)
cantharidin  (ISO)
capsaicin  (ISO)
captopril  (ISO)
carbon atom  (EXP)
carbon nanotube  (ISO)
carnosine  (ISO)
carvedilol  (ISO)
CGP 52608  (EXP)
CGS-21680  (EXP)
CHIR 99021  (EXP)
chloroprene  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibric acid  (ISO)
clorgyline  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cortisol  (EXP)
crocidolite asbestos  (EXP,ISO)
curcumin  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP,ISO)
DDT  (ISO)
Delta(9)-tetrahydrocannabinolic acid  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
diethyl malate  (ISO)
diethyl maleate  (ISO)
dimethylarsinic acid  (ISO)
Diosbulbin B  (ISO)
dioxygen  (EXP,ISO)
diprotium oxide  (ISO)
dipyridamole  (EXP)
diquat  (ISO)
disodium selenite  (EXP)
disulfiram  (EXP)
diuron  (ISO)
divanadium pentaoxide  (EXP)
dizocilpine maleate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (ISO)
elemental carbon  (EXP)
emodin  (ISO)
enalapril  (ISO)
endosulfan  (ISO)
eplerenone  (ISO)
eprosartan  (ISO)
ergosta-4,6,8(14),22-tetraen-3-one  (EXP)
ethanol  (ISO)
excitatory amino acid agonist  (EXP)
fasudil  (ISO)
fenofibrate  (ISO)
fingolimod hydrochloride  (ISO)
folic acid  (ISO)
fulvestrant  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
goralatide  (ISO)
griseofulvin  (ISO)
guggulsterone  (ISO)
Honokiol  (ISO)
hydrogen peroxide  (EXP)
Ile(5)-angiotensin II  (ISO)
indole-3-acetic acid  (ISO)
indometacin  (ISO)
isoprenaline  (ISO)
isotretinoin  (ISO)
ivermectin  (EXP)
L-arginine  (ISO)
L-ascorbic acid  (EXP)
L-ascorbic acid 2-phosphate  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
limonene  (ISO)
linoleic acid  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
losartan  (EXP,ISO)
manidipine  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
methylglyoxal  (ISO)
methylmercury chloride  (EXP)
methylmercury(1+)  (ISO)
methylparaben  (EXP)
methyltestosterone  (EXP)
metoprolol  (EXP)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
Morroniside  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
Nandrolone decanoate  (ISO)
nefazodone  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
Pachymic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
paricalcitol  (ISO)
Pentoxifylline  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
perindopril  (ISO)
permethrin  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
Plantamajoside  (ISO)
poly(guanylic acid)  (ISO)
potassium dichromate  (EXP,ISO)
progesterone  (ISO)
puerarin  (ISO)
quercetin  (EXP,ISO)
quercitrin  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP,ISO)
rosmarinic acid  (ISO)
rotenone  (EXP,ISO)
saralasin  (EXP)
sarin  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
serpentine asbestos  (ISO)
Shikonin  (EXP)
silicon atom  (ISO)
silicon dioxide  (ISO)
simvastatin  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium hydroxide  (ISO)
sorafenib  (EXP)
spironolactone  (EXP)
streptozocin  (ISO)
succimer  (EXP,ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
tetraphene  (ISO)
tetrathiomolybdate(2-)  (EXP)
thioacetamide  (ISO)
topotecan  (EXP,ISO)
toxaphene  (ISO)
trichloroethene  (ISO)
trichostatin A  (ISO)
triclosan  (EXP)
triptonide  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vancomycin  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (ISO)
water  (ISO)
XAV939  (EXP)
Y-27632  (EXP)
zinc atom  (EXP)
zinc oxide  (ISO)
zinc(0)  (EXP)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal circle of Willis morphology  (IAGP)
Abnormal eyelash morphology  (IAGP)
Abnormal heart valve morphology  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormal oral frenulum morphology  (IAGP)
Abnormal pupil morphology  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the gingiva  (IAGP)
Abnormality of the skin  (IAGP)
Absent earlobe  (IAGP)
Alopecia  (IAGP)
Alopecia of scalp  (IAGP)
Anemia  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic root aneurysm  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Aplasia/Hypoplasia of the earlobes  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Arterial dissection  (IAGP)
Arterial rupture  (IAGP)
Arterial stenosis  (IAGP)
Arteriovenous fistula  (IAGP)
Arteriovenous fistulas of celiac and mesenteric vessels  (IAGP)
Ascending aortic dissection  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Atherosclerosis  (IAGP)
Atrophic scars  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Bladder diverticulum  (IAGP)
Blue sclerae  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Carious teeth  (IAGP)
Carotid cavernous fistula  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral berry aneurysm  (IAGP)
Cervical insufficiency  (IAGP)
Chest pain  (IAGP)
Cigarette-paper scars  (IAGP)
Cognitive impairment  (IAGP)
Combined cystic and ground-glass pattern on pulmonary HRCT  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Connective tissue nevi  (IAGP)
Convex nasal ridge  (IAGP)
Cortical dysplasia  (IAGP)
Cryptorchidism  (IAGP)
Cystocele  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Diffuse alveolar hemorrhage  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate tall stature  (IAGP)
Ecchymosis  (IAGP)
Emphysema  (IAGP)
Encephalomalacia  (IAGP)
Epicanthus  (IAGP)
Excessive wrinkled skin  (IAGP)
Fine hair  (IAGP)
Finger joint hypermobility  (IAGP)
Flat face  (IAGP)
Foot acroosteolysis  (IAGP)
Fragile skin  (IAGP)
Gastrointestinal infarctions  (IAGP)
Gingival overgrowth  (IAGP)
Gingival recession  (IAGP)
Gingivitis  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hemothorax  (IAGP)
High, narrow palate  (IAGP)
Hyperextensible skin  (IAGP)
Hypermetropia  (IAGP)
Hypermobility of distal interphalangeal joints  (IAGP)
Hypermobility of interphalangeal joints  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplastic lacrimal duct  (IAGP)
Hypospadias  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Internal hemorrhage  (IAGP)
Intracranial hemorrhage  (IAGP)
Irregular hyperpigmentation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Keratoconus  (IAGP)
Lipoatrophy  (IAGP)
Long face  (IAGP)
Long fingers  (IAGP)
Macule  (IAGP)
Megacolon  (IAGP)
Melanocytic nevus  (IAGP)
Metacarpophalangeal joint hyperextensibility  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Migraine  (IAGP)
Mitral valve prolapse  (IAGP)
Molluscoid pseudotumors  (IAGP)
Motor delay  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow nasal ridge  (IAGP)
Nodular pattern on pulmonary HRCT  (IAGP)
Oculomotor nerve palsy  (IAGP)
Osteoarthritis  (IAGP)
Osteolysis  (IAGP)
Osteolytic defects of the phalanges of the hand  (IAGP)
Pectus excavatum  (IAGP)
Periodontitis  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Pneumothorax  (IAGP)
Polymicrogyria  (IAGP)
Premature birth  (IAGP)
Premature delivery because of cervical insufficiency or membrane fragility  (IAGP)
Premature loss of primary teeth  (IAGP)
Premature loss of teeth  (IAGP)
Premature rupture of membranes  (IAGP)
Prematurely aged appearance  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Pulmonary bleb  (IAGP)
Pulmonary bulla  (IAGP)
Pulmonic stenosis  (IAGP)
Recurrent intrapulmonary hemorrhage  (IAGP)
Reduced consciousness  (IAGP)
Redundant skin  (IAGP)
Renovascular hypertension  (IAGP)
Repeated pneumothoraces  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Skin ulcer  (IAGP)
Sleep apnea  (IAGP)
Slender finger  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Spontaneous pneumothorax  (IAGP)
Sprengel anomaly  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Subcutaneous nodule  (IAGP)
Talipes equinovarus  (IAGP)
Telangiectasia of the skin  (IAGP)
Telecanthus  (IAGP)
Thin skin  (IAGP)
Thin vermilion border  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Transient ischemic attack  (IAGP)
Typical absence seizure  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Uterine prolapse  (IAGP)
Uterine rupture  (IAGP)
Varicose veins  (IAGP)
Vascular dilatation  (IAGP)
Ventriculomegaly  (IAGP)
Vertigo  (IAGP)
Visual field defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The angiotensin type 1 receptor antagonist, eprosartan, attenuates the progression of renal disease in spontaneously hypertensive stroke-prone rats with accelerated hypertension. Abrahamsen CT, etal., J Pharmacol Exp Ther. 2002 Apr;301(1):21-8. doi: 10.1124/jpet.301.1.21.
2. Alterations in chromatin are associated with increases in collagen III expression in aging nephropathy. Abrass CK, etal., Am J Physiol Renal Physiol. 2011 Feb;300(2):F531-9. doi: 10.1152/ajprenal.00237.2010. Epub 2010 Jul 7.
3. 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.
4. 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.
5. Epigenetic changes and alteration of Fbn1 and Col3A1 gene expression under hyperglycaemic and hyperinsulinaemic conditions. Gaikwad AB, etal., Biochem J. 2010 Dec 1;432(2):333-41. doi: 10.1042/BJ20100414.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Immunohistochemical distribution of extracellular matrix components and keratin in experimentally induced otitis media. Harada T, etal., Ann Otol Rhinol Laryngol. 1999 Aug;108(8):769-76.
8. 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.
9. 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.
10. Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Kontusaari S, etal., Am J Hum Genet 1990 Jul;47(1):112-20.
11. 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.
12. Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection. Ling XB, etal., J Am Soc Nephrol. 2010 Apr;21(4):646-53. doi: 10.1681/ASN.2009080876. Epub 2010 Feb 11.
13. A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Narcisi P, etal., Hum Mol Genet. 1994 Sep;3(9):1617-20.
14. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. Oderich GS, etal., J Vasc Surg. 2005 Jul;42(1):98-106.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. Pepin M, etal., N Engl J Med 2000 Mar 9;342(10):673-80.
17. Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins. Phua YL, etal., J Pathol. 2013 Apr;229(5):685-96. doi: 10.1002/path.4155. Epub 2013 Feb 22.
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Richards AJ, etal., Hum Genet. 1992 Jan;88(3):325-30.
24. Rapamycin attenuates bladder hypertrophy during long-term outlet obstruction in vivo: tissue, matrix and mechanistic insights. Schroder A, etal., J Urol. 2013 Jun;189(6):2377-84. doi: 10.1016/j.juro.2012.12.110. Epub 2013 Jan 9.
25. Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers-Danlos syndrome. Smith LB, etal., Cardiovasc Res. 2011 Apr 1;90(1):182-90. doi: 10.1093/cvr/cvq356. Epub 2010 Nov 10.
26. Long noncoding RNA H19 controls DUSP5/ERK1/2 axis in cardiac fibroblast proliferation and fibrosis. Tao H, etal., Cardiovasc Pathol. 2016 Sep-Oct;25(5):381-9. doi: 10.1016/j.carpath.2016.05.005. Epub 2016 Jun 2.
27. Decreased hernia recurrence using autologous platelet-rich plasma (PRP) with Strattice mesh in a rodent ventral hernia model. Van Eps J, etal., Surg Endosc. 2015 Nov 17.
28. Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency. Wang K, etal., Hum Genomics. 2017 Mar 16;11(1):4. doi: 10.1186/s40246-017-0101-y.
29. Renoprotective effects of carvedilol in hypertensive-stroke prone rats may involve inhibition of TGF beta expression. Wong VY, etal., Br J Pharmacol. 2001 Nov;134(5):977-84. doi: 10.1038/sj.bjp.0704329.
30. Activation of activin/Smad2 and 3 signaling pathway and the potential involvement of endothelial‑mesenchymal transition in the valvular damage due to rheumatic heart disease. Xian S, etal., Mol Med Rep. 2021 Jan;23(1):10. doi: 10.3892/mmr.2020.11648. Epub 2020 Nov 12.
31. microRNA-29b Mediates the Antifibrotic Effect of Tanshinone IIA in Postinfarct Cardiac Remodeling. Yang F, etal., J Cardiovasc Pharmacol. 2015 May;65(5):456-64. doi: 10.1097/FJC.0000000000000214.
32. Association of gene polymorphisms with chronic kidney disease in high- or low-risk subjects defined by conventional risk factors. Yoshida T, etal., Int J Mol Med. 2009 Jun;23(6):785-92.
33. Lipopolysaccharide induced activin A-follistatin imbalance affects cardiac fibrosis. Zhang WQ, etal., Chin Med J (Engl). 2012 Jun;125(12):2205-12.
Additional References at PubMed
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Genomics

Comparative Map Data
COL3A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382188,974,373 - 189,012,746 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)EnsemblGRCh38hg38GRCh38
GRCh372189,839,099 - 189,877,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362189,547,344 - 189,585,717 (+)NCBINCBI36Build 36hg18NCBI36
Build 342189,664,604 - 189,702,978NCBI
Celera2183,433,958 - 183,472,272 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2181,698,732 - 181,737,119 (+)NCBIHuRef
CHM1_12189,845,032 - 189,883,377 (+)NCBICHM1_1
T2T-CHM13v2.02189,463,283 - 189,501,589 (+)NCBIT2T-CHM13v2.0
Col3a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39145,350,698 - 45,388,866 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl145,350,698 - 45,388,866 (+)EnsemblGRCm39 Ensembl
GRCm38145,311,538 - 45,349,706 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl145,311,538 - 45,349,706 (+)EnsemblGRCm38mm10GRCm38
MGSCv37145,368,383 - 45,406,551 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36145,256,192 - 45,293,566 (+)NCBIMGSCv36mm8
Celera145,612,466 - 45,650,861 (+)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map123.67NCBI
Col3a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8954,866,646 - 54,902,578 (+)NCBIGRCr8
mRatBN7.2947,374,611 - 47,410,547 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl947,374,593 - 47,410,547 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx955,898,776 - 55,934,650 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0961,021,593 - 61,057,467 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0959,317,605 - 59,353,483 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0952,023,295 - 52,059,221 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl952,023,295 - 52,059,217 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0951,689,492 - 51,725,418 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4944,281,582 - 44,317,831 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1944,310,161 - 44,319,243 (+)NCBI
Celera945,061,755 - 45,097,754 (+)NCBICelera
RH 3.4 Map9388.09RGD
Cytogenetic Map9q22NCBI
Col3a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554039,721,114 - 9,757,887 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554039,720,831 - 9,758,019 (-)NCBIChiLan1.0ChiLan1.0
COL3A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21391,670,594 - 91,708,230 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B91,685,668 - 91,723,897 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B76,285,115 - 76,322,703 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B194,204,613 - 194,242,956 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B194,204,613 - 194,242,956 (+)Ensemblpanpan1.1panPan2
COL3A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13630,488,250 - 30,526,367 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3630,488,488 - 30,536,765 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3630,394,214 - 30,431,773 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03630,718,700 - 30,756,283 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3630,718,908 - 30,756,954 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13630,779,325 - 30,816,837 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03630,715,289 - 30,752,838 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03630,884,313 - 30,921,873 (+)NCBIUU_Cfam_GSD_1.0
Col3a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303147,914,117 - 147,951,851 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365068,886,494 - 8,923,930 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365068,886,494 - 8,923,921 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL3A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1593,526,603 - 93,596,363 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11593,556,914 - 93,595,678 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215104,067,018 - 104,105,776 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COL3A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11074,455,133 - 74,493,392 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040124,979,692 - 125,017,963 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col3a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248991,192,360 - 1,230,404 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248991,192,078 - 1,230,528 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL3A1
2648 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000090.4(COL3A1):c.2762G>A (p.Gly921Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000547036] Chr2:189004082 [GRCh38]
Chr2:189868808 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1128C>T (p.His376=) single nucleotide variant COL3A1-related disorder [RCV004537921]|Connective tissue disorder [RCV000659414]|Ehlers-Danlos syndrome, type 4 [RCV000549662]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771858]|not provided [RCV002227179] Chr2:188993438 [GRCh38]
Chr2:189858164 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000544700]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772102]|not provided [RCV002275058]|not specified [RCV001420832] Chr2:189009051 [GRCh38]
Chr2:189873777 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.873C>T (p.Gly291=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001408993]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189162]|not provided [RCV000519510] Chr2:188991507 [GRCh38]
Chr2:189856233 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3077G>T (p.Gly1026Val) single nucleotide variant not provided [RCV000519588] Chr2:189006243 [GRCh38]
Chr2:189870969 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser) single nucleotide variant Cardiovascular phenotype [RCV000590473]|Ehlers-Danlos syndrome, type 4 [RCV000527120]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314960] Chr2:189006354 [GRCh38]
Chr2:189871080 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.479dup (p.Lys161fs) duplication Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000022485] Chr2:188987089..188987090 [GRCh38]
Chr2:189851815..189851816 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1293+15T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000342921]|Familial aortopathy [RCV000029617]|not specified [RCV000124399] Chr2:188994347 [GRCh38]
Chr2:189859073 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala) single nucleotide variant Familial aortopathy [RCV000029618] Chr2:188996426 [GRCh38]
Chr2:189861152 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1816-19T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659419]|Ehlers-Danlos syndrome, type 4 [RCV002496447]|Familial aortopathy [RCV000029619]|not provided [RCV001811204]|not specified [RCV000124403] Chr2:188997317 [GRCh38]
Chr2:189862043 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) single nucleotide variant Ehlers-Danlos syndrome [RCV002276583]|Ehlers-Danlos syndrome, type 4 [RCV000205824]|Ehlers-Danlos syndrome, type 4 [RCV002496448]|Familial aortopathy [RCV000029620]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769570]|not provided [RCV001311567]|not specified [RCV000181054] Chr2:188999297 [GRCh38]
Chr2:189864023 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) single nucleotide variant Ehlers-Danlos syndrome [RCV002276584]|Ehlers-Danlos syndrome, type 4 [RCV001481766]|Familial aortopathy [RCV000029621]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362596] Chr2:188990101 [GRCh38]
Chr2:189854827 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1456-82_1977+177del deletion Ehlers-Danlos syndrome, type 4 [RCV000087371] Chr2:188994961..188998493 [GRCh38]
Chr2:189859687..189863219 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087448]   pathogenic
NM_000090.4(COL3A1):c.582+5_582+11delinsACA indel Ehlers-Danlos syndrome, type 4 [RCV000087464] Chr2:188988139..188988145 [GRCh38]
Chr2:189852865..189852871 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2284-667_3256-44del deletion Ehlers-Danlos syndrome, type 4 [RCV000087465] Chr2:189000730..189007456 [GRCh38]
Chr2:189865456..189872182 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1701_2392-342del deletion Ehlers-Danlos syndrome, type 4 [RCV000087467] Chr2:188996435..189001955 [GRCh38]
Chr2:189861161..189866681 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK) indel Ehlers-Danlos syndrome, type 4 [RCV000087509] Chr2:2q32.2 pathogenic
NM_000090.4(COL3A1):c.2338-31_3040-194del deletion Ehlers-Danlos syndrome, type 4 [RCV000087513] Chr2:189001502..189006009 [GRCh38]
Chr2:189866228..189870735 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+15_1870-100del deletion Ehlers-Danlos syndrome, type 4 [RCV000087538] Chr2:188996508..188997597 [GRCh38]
Chr2:189861234..189862323 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) indel Ehlers-Danlos syndrome, type 4 [RCV000087556] Chr2:189005368..189005369 [GRCh38]
Chr2:189870094..189870095 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+4_1761+5del deletion Ehlers-Danlos syndrome, type 4 [RCV000087568] Chr2:188996499..188996500 [GRCh38]
Chr2:189861225..189861226 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.951+4_951+5del deletion Ehlers-Danlos syndrome, type 4 [RCV000087577] Chr2:188991725..188991726 [GRCh38]
Chr2:189856451..189856452 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3040-127_3255+107del deletion Ehlers-Danlos syndrome, type 4 [RCV000087586] Chr2:189006077..189007095 [GRCh38]
Chr2:189870803..189871821 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1923+2_1923+5del deletion Ehlers-Danlos syndrome, type 4 [RCV000087595] Chr2:188997752..188997755 [GRCh38]
Chr2:189862478..189862481 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC indel Ehlers-Danlos syndrome, type 4 [RCV000087632] Chr2:188988189..188990680 [GRCh38]
Chr2:189852915..189855406 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2284-108_3490del deletion Ehlers-Danlos syndrome, type 4 [RCV000087643] Chr2:189001287..189008105 [GRCh38]
Chr2:189866013..189872831 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+4_3417+5del deletion Ehlers-Danlos syndrome, type 4 [RCV000087650] Chr2:189007942..189007943 [GRCh38]
Chr2:189872668..189872669 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3039+154_3525+223del deletion Ehlers-Danlos syndrome, type 4 [RCV000087653] Chr2:189005610..189008364 [GRCh38]
Chr2:189870336..189873090 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018739] Chr2:189002343 [GRCh38]
Chr2:189867069 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087507]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444435]|not provided [RCV001093160] Chr2:189001554 [GRCh38]
Chr2:189866280 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018741] Chr2:189006400 [GRCh38]
Chr2:189871126 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1347+1G>A single nucleotide variant COL3A1-related disorder [RCV004532389]|Ehlers-Danlos syndrome, type 4 [RCV000087697]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184539]|not provided [RCV001753421] Chr2:188994595 [GRCh38]
Chr2:189859321 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1149+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018743] Chr2:188993460 [GRCh38]
Chr2:189858186 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3093+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018744] Chr2:189006260 [GRCh38]
Chr2:189870986 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) single nucleotide variant COLLAGEN TYPE III POLYMORPHISM [RCV000018745]|Ehlers-Danlos syndrome [RCV002276559]|Ehlers-Danlos syndrome, type 4 [RCV000395000]|Ehlers-Danlos syndrome, type 4 [RCV002496406]|Familial thoracic aortic aneurysm and aortic dissection [RCV000775991]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001588818]|not provided [RCV001811188]|not specified [RCV000177438] Chr2:188999354 [GRCh38]
Chr2:189864080 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2553+5G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018746] Chr2:189003067 [GRCh38]
Chr2:189867793 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.650_1663-83del deletion Ehlers-Danlos syndrome, type 4 [RCV000018747] Chr2:188989407..188996313 [GRCh38]
Chr2:189854133..189861039 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018748]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170886] Chr2:188990308 [GRCh38]
Chr2:189855034 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018749] Chr2:189006965 [GRCh38]
Chr2:189871691 [GRCh37]
Chr2:2q32.2		 pathogenic
COL3A1, GLY373ARG variation Ehlers-Danlos syndrome, type 4 [RCV000018750] Chr2:2q31 pathogenic
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018751] Chr2:188996171 [GRCh38]
Chr2:189860897 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+5G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018752] Chr2:188996501 [GRCh38]
Chr2:189861227 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2931+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018753] Chr2:189004365 [GRCh38]
Chr2:189869091 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) deletion Ehlers-Danlos syndrome, type 4 [RCV000018754] Chr2:189002995..189003021 [GRCh38]
Chr2:189867721..189867747 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018755] Chr2:189006207 [GRCh38]
Chr2:189870933 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018756]|not provided [RCV000434900] Chr2:189008952 [GRCh38]
Chr2:189873678 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018757] Chr2:189008135 [GRCh38]
Chr2:189872861 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018758] Chr2:189008961 [GRCh38]
Chr2:189873687 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018759] Chr2:188985737 [GRCh38]
Chr2:189850463 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018760] Chr2:188988140 [GRCh38]
Chr2:189852866 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2410G>A (p.Gly804Ser) single nucleotide variant EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT [RCV000018761] Chr2:189002316 [GRCh38]
Chr2:189867042 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1869+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018762] Chr2:188997394 [GRCh38]
Chr2:189862120 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018763] Chr2:188998693 [GRCh38]
Chr2:189863419 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018764] Chr2:189004312 [GRCh38]
Chr2:189869038 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) single nucleotide variant COL3A1-related disorder [RCV004528122]|Ehlers-Danlos syndrome, type 4 [RCV000018765]|Familial thoracic aortic aneurysm and aortic dissection [RCV000616909]|not provided [RCV000181088] Chr2:188996479 [GRCh38]
Chr2:189861205 [GRCh37]
Chr2:2q32.2		 pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018766] Chr2:189007546 [GRCh38]
Chr2:189872272 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018767]|not provided [RCV003329233] Chr2:188999560 [GRCh38]
Chr2:189864286 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018768]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186047]|not provided [RCV000479050] Chr2:188988099 [GRCh38]
Chr2:189852825 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018769] Chr2:188991523 [GRCh38]
Chr2:189856249 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
COL3A1, IVS8DS, G-A, +5 single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018770]|Ehlers-Danlos syndrome, type 4 variant [RCV000018770] Chr2:2q31 pathogenic
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000018771] Chr2:189006400 [GRCh38]
Chr2:189871126 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.996+10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001494683] Chr2:188992238 [GRCh38]
Chr2:189856964 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+106_1663-95del deletion not provided [RCV001545274] Chr2:188996277..188996296 [GRCh38]
Chr2:189861003..189861022 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001859347]|Familial thoracic aortic aneurysm and aortic dissection [RCV002368537]|not provided [RCV001508125] Chr2:188989397 [GRCh38]
Chr2:189854123 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1484G>A (p.Gly495Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000546683] Chr2:188995074 [GRCh38]
Chr2:189859800 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4175T>G (p.Leu1392Arg) single nucleotide variant not provided [RCV000522379] Chr2:189010811 [GRCh38]
Chr2:189875537 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000527689]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177073]|not provided [RCV001579722] Chr2:188984866 [GRCh38]
Chr2:189849592 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000550386]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176059]|not specified [RCV001194123] Chr2:189004346 [GRCh38]
Chr2:189869072 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1525C>T (p.Arg509Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000545342]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528188] Chr2:188995707 [GRCh38]
Chr2:189860433 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001062849]|not provided [RCV000521861] Chr2:189004111 [GRCh38]
Chr2:189868837 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1870-9C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000542555] Chr2:188997691 [GRCh38]
Chr2:189862417 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087338] Chr2:189005395 [GRCh38]
Chr2:189870121 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087339] Chr2:189003457 [GRCh38]
Chr2:189868183 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087340] Chr2:188999888 [GRCh38]
Chr2:189864614 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087341] Chr2:188992923 [GRCh38]
Chr2:189857649 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087342] Chr2:188988100 [GRCh38]
Chr2:189852826 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087343] Chr2:188999570 [GRCh38]
Chr2:189864296 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087344] Chr2:188997746 [GRCh38]
Chr2:189862472 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.951+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087345] Chr2:188991727 [GRCh38]
Chr2:189856453 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.951+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087346] Chr2:188991728 [GRCh38]
Chr2:189856454 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2823+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087347]|not provided [RCV002284361] Chr2:189004144 [GRCh38]
Chr2:189868870 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.951_951+14del deletion Ehlers-Danlos syndrome, type 4 [RCV000087348] Chr2:188991717..188991731 [GRCh38]
Chr2:189856443..189856457 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.951+2T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087349] Chr2:188991724 [GRCh38]
Chr2:189856450 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087350] Chr2:188991005 [GRCh38]
Chr2:189855731 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087351] Chr2:189006346 [GRCh38]
Chr2:189871072 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2022+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087352] Chr2:188998720 [GRCh38]
Chr2:189863446 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087353] Chr2:188996479 [GRCh38]
Chr2:189861205 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1189_1194+23del deletion Ehlers-Danlos syndrome, type 4 [RCV000087354] Chr2:188994075..188994103 [GRCh38]
Chr2:189858801..189858829 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087355] Chr2:189008108 [GRCh38]
Chr2:189872834 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087356] Chr2:189004100 [GRCh38]
Chr2:189868826 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087357] Chr2:188998683 [GRCh38]
Chr2:189863409 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087358] Chr2:189004294 [GRCh38]
Chr2:189869020 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087359] Chr2:188997745 [GRCh38]
Chr2:189862471 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087360] Chr2:188988608 [GRCh38]
Chr2:189853334 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087361] Chr2:188999488 [GRCh38]
Chr2:189864214 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087362] Chr2:189004257 [GRCh38]
Chr2:189868983 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087363] Chr2:189007545 [GRCh38]
Chr2:189872271 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087364] Chr2:188991670 [GRCh38]
Chr2:189856396 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087365] Chr2:188989415 [GRCh38]
Chr2:189854141 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087366] Chr2:188999340 [GRCh38]
Chr2:189864066 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087367] Chr2:188993460 [GRCh38]
Chr2:189858186 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087368] Chr2:188991678 [GRCh38]
Chr2:189856404 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087369]|not provided [RCV000442138] Chr2:189007939 [GRCh38]
Chr2:189872665 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087370] Chr2:189007591 [GRCh38]
Chr2:189872317 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087372] Chr2:188988108 [GRCh38]
Chr2:189852834 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087373] Chr2:189004275 [GRCh38]
Chr2:189869001 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087374] Chr2:189007943 [GRCh38]
Chr2:189872669 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087375] Chr2:189005359 [GRCh38]
Chr2:189870085 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087376]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433595] Chr2:189004091 [GRCh38]
Chr2:189868817 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.951+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087377] Chr2:188991724 [GRCh38]
Chr2:189856450 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.555del (p.Gly186fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087378]|not provided [RCV000489156] Chr2:188988107 [GRCh38]
Chr2:189852833 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.951+3G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087379] Chr2:188991725 [GRCh38]
Chr2:189856451 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087380] Chr2:188991670 [GRCh38]
Chr2:189856396 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1347+3A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087381] Chr2:188994597 [GRCh38]
Chr2:189859323 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087382] Chr2:188998684 [GRCh38]
Chr2:189863410 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.766del (p.Ile256fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087383] Chr2:188990328 [GRCh38]
Chr2:189855054 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087384] Chr2:189005359 [GRCh38]
Chr2:189870085 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087385] Chr2:189005396 [GRCh38]
Chr2:189870122 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2607+5G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087386]|not provided [RCV003148648] Chr2:189003469 [GRCh38]
Chr2:189868195 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087387] Chr2:188999331 [GRCh38]
Chr2:189864057 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1194+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087388] Chr2:188994083 [GRCh38]
Chr2:189858809 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087389] Chr2:188999376 [GRCh38]
Chr2:189864102 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087390]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453417] Chr2:189001450 [GRCh38]
Chr2:189866176 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087391] Chr2:188997351..188997352 [GRCh38]
Chr2:189862077..189862078 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.798+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087392] Chr2:188990361 [GRCh38]
Chr2:189855087 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087393]|not provided [RCV003114253] Chr2:188990317 [GRCh38]
Chr2:189855043 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087394] Chr2:189008126 [GRCh38]
Chr2:189872852 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087395] Chr2:189003421 [GRCh38]
Chr2:189868147 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087396] Chr2:189004302 [GRCh38]
Chr2:189869028 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087397] Chr2:189010201 [GRCh38]
Chr2:189874927 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087398] Chr2:188990123 [GRCh38]
Chr2:189854849 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087399] Chr2:189006974 [GRCh38]
Chr2:189871700 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087400] Chr2:188989441 [GRCh38]
Chr2:189854167 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087401] Chr2:189008108 [GRCh38]
Chr2:189872834 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087402]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433596] Chr2:189004090 [GRCh38]
Chr2:189868816 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087403] Chr2:189008090 [GRCh38]
Chr2:189872816 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087404] Chr2:189008099 [GRCh38]
Chr2:189872825 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087405] Chr2:188999330 [GRCh38]
Chr2:189864056 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1974_1977+4del deletion Ehlers-Danlos syndrome, type 4 [RCV000087406] Chr2:188998315..188998322 [GRCh38]
Chr2:189863041..189863048 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087407]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162519] Chr2:188995056 [GRCh38]
Chr2:189859782 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087408] Chr2:188988099 [GRCh38]
Chr2:189852825 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087409] Chr2:188997211 [GRCh38]
Chr2:189861937 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087410]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415586] Chr2:188991014 [GRCh38]
Chr2:189855740 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087411]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313842]|not provided [RCV001268224] Chr2:189006236 [GRCh38]
Chr2:189870962 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3255+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087412] Chr2:189006991 [GRCh38]
Chr2:189871717 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087413]|not provided [RCV000788470] Chr2:188991669 [GRCh38]
Chr2:189856395 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087414]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453418]|not provided [RCV001731375] Chr2:189008125 [GRCh38]
Chr2:189872851 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087415] Chr2:189004046 [GRCh38]
Chr2:189868772 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087416] Chr2:188999551 [GRCh38]
Chr2:189864277 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087417] Chr2:188994279 [GRCh38]
Chr2:189859005 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087418] Chr2:189002991 [GRCh38]
Chr2:189867717 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087419] Chr2:189008952 [GRCh38]
Chr2:189873678 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087420] Chr2:188991715 [GRCh38]
Chr2:189856441 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087421] Chr2:189005353 [GRCh38]
Chr2:189870079 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087422]|not provided [RCV000494523] Chr2:188994577 [GRCh38]
Chr2:189859303 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087423] Chr2:189010320 [GRCh38]
Chr2:189875046 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087424] Chr2:189006373 [GRCh38]
Chr2:189871099 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087425] Chr2:189001407 [GRCh38]
Chr2:189866133 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087426] Chr2:188998675 [GRCh38]
Chr2:189863401 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087427] Chr2:189003412 [GRCh38]
Chr2:189868138 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087428] Chr2:188988099 [GRCh38]
Chr2:189852825 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087429] Chr2:189008054 [GRCh38]
Chr2:189872780 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1294-3T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087430] Chr2:188994538 [GRCh38]
Chr2:189859264 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.690+2T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087431] Chr2:188989451 [GRCh38]
Chr2:189854177 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087432]|Ehlers-Danlos syndrome, type 4 [RCV003224147]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001198513] Chr2:188993362 [GRCh38]
Chr2:189858088 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087433] Chr2:188993397 [GRCh38]
Chr2:189858123 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087434] Chr2:188995065 [GRCh38]
Chr2:189859791 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3255+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087435] Chr2:189006995 [GRCh38]
Chr2:189871721 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087436] Chr2:189008126 [GRCh38]
Chr2:189872852 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3418-2A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087437] Chr2:189008033 [GRCh38]
Chr2:189872759 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3093+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087438] Chr2:189006261 [GRCh38]
Chr2:189870987 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087439]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453419] Chr2:189008960 [GRCh38]
Chr2:189873686 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087440] Chr2:189004028 [GRCh38]
Chr2:189868754 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3039+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087441] Chr2:189005458 [GRCh38]
Chr2:189870184 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087442] Chr2:188988117 [GRCh38]
Chr2:189852843 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+1G>C single nucleotide variant Ehlers-Danlos syndrome [RCV002277149]|Ehlers-Danlos syndrome, type 4 [RCV000087443] Chr2:188988135 [GRCh38]
Chr2:189852861 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087444] Chr2:189006949..189006966 [GRCh38]
Chr2:189871675..189871692 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) indel Ehlers-Danlos syndrome, type 4 [RCV000087445] Chr2:188997166..188997172 [GRCh38]
Chr2:189861892..189861898 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087446]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313843] Chr2:188996501 [GRCh38]
Chr2:189861227 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087447] Chr2:189004321 [GRCh38]
Chr2:189869047 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087449] Chr2:188999367 [GRCh38]
Chr2:189864093 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2337+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087450] Chr2:189001452 [GRCh38]
Chr2:189866178 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2553+1del deletion Ehlers-Danlos syndrome, type 4 [RCV000087451] Chr2:189003063 [GRCh38]
Chr2:189867789 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087452] Chr2:188988636 [GRCh38]
Chr2:189853362 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.996+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087453] Chr2:188992229 [GRCh38]
Chr2:189856955 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087454] Chr2:189004258 [GRCh38]
Chr2:189868984 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087455]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362737] Chr2:188989424 [GRCh38]
Chr2:189854150 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2554-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087456] Chr2:189003410 [GRCh38]
Chr2:189868136 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1150-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087457] Chr2:188994037 [GRCh38]
Chr2:189858763 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087458] Chr2:189008134 [GRCh38]
Chr2:189872860 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087459] Chr2:188997736 [GRCh38]
Chr2:189862462 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087460] Chr2:188995091 [GRCh38]
Chr2:189859817 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+2dup duplication Ehlers-Danlos syndrome, type 4 [RCV000087461] Chr2:188988135..188988136 [GRCh38]
Chr2:189852861..189852862 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087462] Chr2:188993403..188993420 [GRCh38]
Chr2:189858129..189858146 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087463] Chr2:189003019 [GRCh38]
Chr2:189867745 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087468] Chr2:189006226..189006228 [GRCh38]
Chr2:189870952..189870954 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087469] Chr2:188996498 [GRCh38]
Chr2:189861224 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087470] Chr2:188997211 [GRCh38]
Chr2:189861937 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087471] Chr2:188991049 [GRCh38]
Chr2:189855775 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3039+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087472] Chr2:189005463 [GRCh38]
Chr2:189870189 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087473] Chr2:188989433 [GRCh38]
Chr2:189854159 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087474]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362738] Chr2:188994270 [GRCh38]
Chr2:189858996 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1662+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087475] Chr2:188996179 [GRCh38]
Chr2:189860905 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087476]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162520]|not provided [RCV003332115] Chr2:189007912 [GRCh38]
Chr2:189872638 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1662+2dup duplication Ehlers-Danlos syndrome, type 4 [RCV000087477] Chr2:188996179..188996180 [GRCh38]
Chr2:189860905..189860906 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1149+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087478]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453420] Chr2:188993464 [GRCh38]
Chr2:189858190 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.951+6T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087479] Chr2:188991728 [GRCh38]
Chr2:189856454 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087480] Chr2:188997382 [GRCh38]
Chr2:189862108 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087481]|Familial thoracic aortic aneurysm and aortic dissection [RCV002321584] Chr2:189006418 [GRCh38]
Chr2:189871144 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087482] Chr2:189001398 [GRCh38]
Chr2:189866124 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087483] Chr2:189004357 [GRCh38]
Chr2:189869083 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087484] Chr2:188999533 [GRCh38]
Chr2:189864259 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087485] Chr2:188993452 [GRCh38]
Chr2:189858178 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087486] Chr2:189006391 [GRCh38]
Chr2:189871117 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3364-2A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087487] Chr2:189007883 [GRCh38]
Chr2:189872609 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087488] Chr2:188993425 [GRCh38]
Chr2:189858151 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087489] Chr2:189005413 [GRCh38]
Chr2:189870139 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087490] Chr2:188999498 [GRCh38]
Chr2:189864224 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087491] Chr2:189004135 [GRCh38]
Chr2:189868861 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087492] Chr2:189006938 [GRCh38]
Chr2:189871664 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087493] Chr2:189005450 [GRCh38]
Chr2:189870176 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087494] Chr2:189008107 [GRCh38]
Chr2:189872833 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087495] Chr2:189006955 [GRCh38]
Chr2:189871681 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087496] Chr2:188989442 [GRCh38]
Chr2:189854168 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+6T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087497] Chr2:188988140 [GRCh38]
Chr2:189852866 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.898-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087498] Chr2:188991668 [GRCh38]
Chr2:189856394 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087499] Chr2:188989396 [GRCh38]
Chr2:189854122 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2284-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087500] Chr2:189001395 [GRCh38]
Chr2:189866121 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087501] Chr2:188990317 [GRCh38]
Chr2:189855043 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087502] Chr2:189004348 [GRCh38]
Chr2:189869074 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087503] Chr2:188999470..188999496 [GRCh38]
Chr2:189864196..189864222 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087504] Chr2:189007563 [GRCh38]
Chr2:189872289 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.690+2T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087505] Chr2:188989451 [GRCh38]
Chr2:189854177 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1662+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087506]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310654]|not provided [RCV000181086] Chr2:188996179 [GRCh38]
Chr2:189860905 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087508] Chr2:189004091 [GRCh38]
Chr2:189868817 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3418-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087510] Chr2:189008034 [GRCh38]
Chr2:189872760 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087511]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444560] Chr2:189006444 [GRCh38]
Chr2:189871170 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087512] Chr2:189001555 [GRCh38]
Chr2:189866281 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087514]|not provided [RCV000522589] Chr2:189010890 [GRCh38]
Chr2:189875616 [GRCh37]
Chr2:2q32.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087515] Chr2:189004126 [GRCh38]
Chr2:189868852 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087516] Chr2:189004266 [GRCh38]
Chr2:189868992 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3039+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087517] Chr2:189005462 [GRCh38]
Chr2:189870188 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087518] Chr2:188993434 [GRCh38]
Chr2:189858160 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087519] Chr2:188990142 [GRCh38]
Chr2:189854868 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087520] Chr2:189004330 [GRCh38]
Chr2:189869056 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2445+2dup duplication Ehlers-Danlos syndrome, type 4 [RCV000087521] Chr2:189002352..189002353 [GRCh38]
Chr2:189867078..189867079 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1923+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087522] Chr2:188997754 [GRCh38]
Chr2:189862480 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087523] Chr2:189008933 [GRCh38]
Chr2:189873659 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1870-2A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087524] Chr2:188997698 [GRCh38]
Chr2:189862424 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087525] Chr2:189005405 [GRCh38]
Chr2:189870131 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087526] Chr2:188999321 [GRCh38]
Chr2:189864047 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087527] Chr2:189008117 [GRCh38]
Chr2:189872843 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla) insertion Ehlers-Danlos syndrome, type 4 [RCV000087528] Chr2:188993372..188993373 [GRCh38]
Chr2:189858098..189858099 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087529] Chr2:189004338 [GRCh38]
Chr2:189869064 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087530] Chr2:188999516 [GRCh38]
Chr2:189864242 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1194+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087531] Chr2:188994083 [GRCh38]
Chr2:189858809 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087532] Chr2:189006355 [GRCh38]
Chr2:189871081 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087533] Chr2:188990308 [GRCh38]
Chr2:189855034 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087534]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310655] Chr2:189005377 [GRCh38]
Chr2:189870103 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087535]|not provided [RCV000181084] Chr2:188996134 [GRCh38]
Chr2:189860860 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087536]|not provided [RCV002255129] Chr2:189011667 [GRCh38]
Chr2:189876393 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087537]|not provided [RCV000423138] Chr2:188994307 [GRCh38]
Chr2:189859033 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087539] Chr2:188999313 [GRCh38]
Chr2:189864039 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087540] Chr2:188992194 [GRCh38]
Chr2:189856920 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087541] Chr2:189004001 [GRCh38]
Chr2:189868727 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC indel Ehlers-Danlos syndrome, type 4 [RCV000087542] Chr2:189003781..189003794 [GRCh38]
Chr2:189868507..189868520 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087543] Chr2:188999349 [GRCh38]
Chr2:189864075 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087544] Chr2:188988627 [GRCh38]
Chr2:189853353 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) single nucleotide variant COL3A1-related disorder [RCV004528787]|Ehlers-Danlos syndrome, type 4 [RCV000087545] Chr2:188991041 [GRCh38]
Chr2:189855767 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1808del (p.Gly603fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087546] Chr2:188997210 [GRCh38]
Chr2:189861936 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087547]|Seizure [RCV000626591] Chr2:189005351 [GRCh38]
Chr2:189870077 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087548]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162521] Chr2:188989406 [GRCh38]
Chr2:189854132 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087549] Chr2:188999286 [GRCh38]
Chr2:189864012 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.951+4A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087550] Chr2:188991726 [GRCh38]
Chr2:189856452 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087551] Chr2:189004019 [GRCh38]
Chr2:189868745 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1869+1G>C single nucleotide variant COL3A1-related disorder [RCV004529909]|Ehlers-Danlos syndrome, type 4 [RCV000087552] Chr2:188997390 [GRCh38]
Chr2:189862116 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087553] Chr2:188988599 [GRCh38]
Chr2:189853325 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087554]|Familial thoracic aortic aneurysm and aortic dissection [RCV002433597] Chr2:189004090 [GRCh38]
Chr2:189868816 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.997-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087555] Chr2:188992885 [GRCh38]
Chr2:189857611 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1977+2T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087557] Chr2:188998321 [GRCh38]
Chr2:189863047 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087558]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415587] Chr2:188990353 [GRCh38]
Chr2:189855079 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1662+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087559] Chr2:188996179 [GRCh38]
Chr2:189860905 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087560] Chr2:188990326 [GRCh38]
Chr2:189855052 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087561] Chr2:188999542 [GRCh38]
Chr2:189864268 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087562]|not provided [RCV000181122] Chr2:188992208 [GRCh38]
Chr2:189856934 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter) duplication Ehlers-Danlos syndrome, type 4 [RCV000087563] Chr2:188997175..188997176 [GRCh38]
Chr2:189861901..189861902 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087564] Chr2:189004348 [GRCh38]
Chr2:189869074 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087565]|Familial thoracic aortic aneurysm and aortic dissection [RCV002453421] Chr2:189008116 [GRCh38]
Chr2:189872842 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087566] Chr2:189007528 [GRCh38]
Chr2:189872254 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087567] Chr2:188994577 [GRCh38]
Chr2:189859303 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087569] Chr2:188997728 [GRCh38]
Chr2:189862454 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC indel Ehlers-Danlos syndrome, type 4 [RCV000087570] Chr2:188994037..188994054 [GRCh38]
Chr2:189858763..189858780 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087571] Chr2:188997336 [GRCh38]
Chr2:189862062 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087572] Chr2:189007537 [GRCh38]
Chr2:189872263 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087573] Chr2:188999561 [GRCh38]
Chr2:189864287 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087574] Chr2:188997381 [GRCh38]
Chr2:189862107 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2824-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087575] Chr2:189004256 [GRCh38]
Chr2:189868982 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087576] Chr2:189011772 [GRCh38]
Chr2:189876498 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087578] Chr2:188995065 [GRCh38]
Chr2:189859791 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087579] Chr2:189006427 [GRCh38]
Chr2:189871153 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087580]|Ehlers-Danlos syndrome, type 4 [RCV002483171] Chr2:188998303 [GRCh38]
Chr2:189863029 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087581] Chr2:188994734 [GRCh38]
Chr2:189859460 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087582] Chr2:188997382 [GRCh38]
Chr2:189862108 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087583] Chr2:189003771 [GRCh38]
Chr2:189868497 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg) single nucleotide variant Ehlers-Danlos syndrome [RCV002277150]|Ehlers-Danlos syndrome, type 4 [RCV000087584] Chr2:188999375 [GRCh38]
Chr2:189864101 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087585] Chr2:188989414 [GRCh38]
Chr2:189854140 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087587]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362739]|not provided [RCV000181072] Chr2:188990114 [GRCh38]
Chr2:189854840 [GRCh37]
Chr2:2q32.2		 pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1761+2T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087588] Chr2:188996498 [GRCh38]
Chr2:189861224 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087589]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313844] Chr2:188988618 [GRCh38]
Chr2:189853344 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087590]|not provided [RCV002509211] Chr2:189008934 [GRCh38]
Chr2:189873660 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup) duplication Ehlers-Danlos syndrome, type 4 [RCV000087591] Chr2:188988621..188988622 [GRCh38]
Chr2:189853347..189853348 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087592] Chr2:189008943 [GRCh38]
Chr2:189873669 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087593] Chr2:188999560 [GRCh38]
Chr2:189864286 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087594] Chr2:188990133 [GRCh38]
Chr2:189854859 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1149+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087596] Chr2:188993460 [GRCh38]
Chr2:189858186 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087597] Chr2:189001406 [GRCh38]
Chr2:189866132 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087598] Chr2:188989415 [GRCh38]
Chr2:189854141 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087599]|not provided [RCV000520450] Chr2:188994306 [GRCh38]
Chr2:189859032 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087600]|not provided [RCV001508126] Chr2:188999367 [GRCh38]
Chr2:189864093 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087601] Chr2:188995693 [GRCh38]
Chr2:189860419 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087602] Chr2:188991697 [GRCh38]
Chr2:189856423 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087603]|not provided [RCV003328555] Chr2:188994760 [GRCh38]
Chr2:189859486 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087604] Chr2:188997364 [GRCh38]
Chr2:189862090 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087605]|not provided [RCV000498865] Chr2:188990344 [GRCh38]
Chr2:189855070 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2445+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087606] Chr2:189002356 [GRCh38]
Chr2:189867082 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087607] Chr2:188994288 [GRCh38]
Chr2:189859014 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087608] Chr2:188999524 [GRCh38]
Chr2:189864250 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087609]|not provided [RCV000481883] Chr2:189007600 [GRCh38]
Chr2:189872326 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087610] Chr2:189004320 [GRCh38]
Chr2:189869046 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087611] Chr2:188988600 [GRCh38]
Chr2:189853326 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087612] Chr2:189003010 [GRCh38]
Chr2:189867736 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087613] Chr2:189008135 [GRCh38]
Chr2:189872861 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087614] Chr2:188998718 [GRCh38]
Chr2:189863444 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087615]|Familial thoracic aortic aneurysm and aortic dissection [RCV002444561] Chr2:189001398 [GRCh38]
Chr2:189866124 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087616] Chr2:188991032 [GRCh38]
Chr2:189855758 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087617] Chr2:189003762 [GRCh38]
Chr2:189868488 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087618] Chr2:189007939 [GRCh38]
Chr2:189872665 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087619] Chr2:189008943 [GRCh38]
Chr2:189873669 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087620] Chr2:189008113 [GRCh38]
Chr2:189872839 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087621] Chr2:189010343 [GRCh38]
Chr2:189875069 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087622] Chr2:188988100 [GRCh38]
Chr2:189852826 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087623] Chr2:189008036 [GRCh38]
Chr2:189872762 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087624] Chr2:189005413 [GRCh38]
Chr2:189870139 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.996+2T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087625] Chr2:188992230 [GRCh38]
Chr2:189856956 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087626]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310656]|not provided [RCV002243758] Chr2:188992202 [GRCh38]
Chr2:189856928 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087627] Chr2:189006408 [GRCh38]
Chr2:189871134 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087628]|not provided [RCV000435885] Chr2:188992194 [GRCh38]
Chr2:189856920 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.951+1G>A single nucleotide variant COL3A1-related disorder [RCV000844985]|Ehlers-Danlos syndrome, type 4 [RCV000087629] Chr2:188991723 [GRCh38]
Chr2:189856449 [GRCh37]
Chr2:2q32.2		 pathogenic|not provided
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087630] Chr2:188988590 [GRCh38]
Chr2:189853316 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087631]|Familial thoracic aortic aneurysm and aortic dissection [RCV002362740] Chr2:188989424 [GRCh38]
Chr2:189854150 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087633] Chr2:188999471 [GRCh38]
Chr2:189864197 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) duplication Ehlers-Danlos syndrome, type 4 [RCV000087634]|not provided [RCV001508128] Chr2:189003038..189003039 [GRCh38]
Chr2:189867764..189867765 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087635] Chr2:189004303 [GRCh38]
Chr2:189869029 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) indel Ehlers-Danlos syndrome, type 4 [RCV000087636] Chr2:188992187..188992206 [GRCh38]
Chr2:189856913..189856932 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087637] Chr2:188990106 [GRCh38]
Chr2:189854832 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del) deletion Ehlers-Danlos syndrome, type 4 [RCV000087638] Chr2:188999483..188999509 [GRCh38]
Chr2:189864209..189864235 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087639] Chr2:189010217 [GRCh38]
Chr2:189874943 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087640] Chr2:189008107 [GRCh38]
Chr2:189872833 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087641] Chr2:189005441 [GRCh38]
Chr2:189870167 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.690+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087642] Chr2:188989450 [GRCh38]
Chr2:189854176 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087644] Chr2:188998267 [GRCh38]
Chr2:189862993 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087645] Chr2:189004073 [GRCh38]
Chr2:189868799 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2607+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087647] Chr2:189003469 [GRCh38]
Chr2:189868195 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2337+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087648] Chr2:189001451 [GRCh38]
Chr2:189866177 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087649] Chr2:189004320 [GRCh38]
Chr2:189869046 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2553+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087651] Chr2:189003063 [GRCh38]
Chr2:189867789 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1410del (p.Gly471fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087652] Chr2:188994786 [GRCh38]
Chr2:189859512 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087654] Chr2:189007519 [GRCh38]
Chr2:189872245 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3256-43T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087655] Chr2:189007457 [GRCh38]
Chr2:189872183 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087656] Chr2:188999357 [GRCh38]
Chr2:189864083 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087657] Chr2:188997745 [GRCh38]
Chr2:189862471 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3093+2T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087658] Chr2:189006261 [GRCh38]
Chr2:189870987 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu) indel Ehlers-Danlos syndrome, type 4 [RCV000087659] Chr2:189008925..189008926 [GRCh38]
Chr2:189873651..189873652 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3418-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087660] Chr2:189008033 [GRCh38]
Chr2:189872759 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.997-10A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087661] Chr2:188992877 [GRCh38]
Chr2:189857603 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1870-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087662]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298138] Chr2:188997698 [GRCh38]
Chr2:189862424 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.582+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087663]|Familial thoracic aortic aneurysm and aortic dissection [RCV002354287]|not provided [RCV000788733] Chr2:188988139 [GRCh38]
Chr2:189852865 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087664] Chr2:188990326 [GRCh38]
Chr2:189855052 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087665]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189408]|not provided [RCV001269682] Chr2:189007569 [GRCh38]
Chr2:189872295 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087666] Chr2:188990133 [GRCh38]
Chr2:189854859 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087667] Chr2:189007510 [GRCh38]
Chr2:189872236 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087668] Chr2:188992888 [GRCh38]
Chr2:189857614 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087669] Chr2:189004293 [GRCh38]
Chr2:189869019 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2121+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087670] Chr2:188999384 [GRCh38]
Chr2:189864110 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.636+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087671] Chr2:188988644 [GRCh38]
Chr2:189853370 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087672]|not provided [RCV000181091] Chr2:188998684 [GRCh38]
Chr2:189863410 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087673] Chr2:188974519 [GRCh38]
Chr2:189839245 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087674] Chr2:188999489 [GRCh38]
Chr2:189864215 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087675] Chr2:188996162 [GRCh38]
Chr2:189860888 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087676] Chr2:188999534 [GRCh38]
Chr2:189864260 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA indel Ehlers-Danlos syndrome, type 4 [RCV000087677] Chr2:188988638..188988649 [GRCh38]
Chr2:189853364..189853375 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3202-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087678] Chr2:189006935 [GRCh38]
Chr2:189871661 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087679] Chr2:189008942 [GRCh38]
Chr2:189873668 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087680] Chr2:188997381 [GRCh38]
Chr2:189862107 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2553+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087681] Chr2:189003064 [GRCh38]
Chr2:189867790 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087682] Chr2:188999569 [GRCh38]
Chr2:189864295 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del) microsatellite Ehlers-Danlos syndrome, type 4 [RCV000087683] Chr2:188993413..188993415 [GRCh38]
Chr2:189858139..189858141 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087684] Chr2:189004303 [GRCh38]
Chr2:189869029 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.997-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087685]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190410]|not provided [RCV000181075] Chr2:188992886 [GRCh38]
Chr2:189857612 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.636+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087686] Chr2:188988648 [GRCh38]
Chr2:189853374 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087687] Chr2:189002308 [GRCh38]
Chr2:189867034 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087688] Chr2:189003411 [GRCh38]
Chr2:189868137 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087689]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313845] Chr2:188997166 [GRCh38]
Chr2:189861892 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087690]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170888]|not provided [RCV001560397] Chr2:188994297 [GRCh38]
Chr2:189859023 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087691] Chr2:188995738 [GRCh38]
Chr2:189860464 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087692] Chr2:189001397 [GRCh38]
Chr2:189866123 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087693]|Ehlers-Danlos syndrome, type 4 [RCV002490756]|Familial thoracic aortic aneurysm and aortic dissection [RCV002415588] Chr2:188999479 [GRCh38]
Chr2:189864205 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087694]|Ehlers-Danlos syndrome, type 4 [RCV002477259] Chr2:188993406 [GRCh38]
Chr2:189858132 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087695] Chr2:188999843 [GRCh38]
Chr2:189864569 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087696] Chr2:188999525 [GRCh38]
Chr2:189864251 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087698] Chr2:188998312 [GRCh38]
Chr2:189863038 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1923+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087699] Chr2:188997754 [GRCh38]
Chr2:189862480 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087700]|Familial thoracic aortic aneurysm and aortic dissection [RCV003162522] Chr2:189008116 [GRCh38]
Chr2:189872842 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1978-6_1981del deletion Ehlers-Danlos syndrome, type 4 [RCV000087701] Chr2:188998666..188998675 [GRCh38]
Chr2:189863392..189863401 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1456-10T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087702] Chr2:188995036 [GRCh38]
Chr2:189859762 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.3(COL3A1):c.1610delG deletion Ehlers-Danlos syndrome, type 4 [RCV000087703] Chr2:188996124 [GRCh38]
Chr2:189860850 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087704] Chr2:189008107 [GRCh38]
Chr2:189872833 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087705]|not provided [RCV001811400] Chr2:189008970 [GRCh38]
Chr2:189873696 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087706]|Familial aortopathy [RCV000781312] Chr2:189006354 [GRCh38]
Chr2:189871080 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1456-13_1499del deletion Ehlers-Danlos syndrome, type 4 [RCV000087707] Chr2:188995033..188995089 [GRCh38]
Chr2:189859759..189859815 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) single nucleotide variant COL3A1-related disorder [RCV004542805]|Ehlers-Danlos syndrome, type 4 [RCV000087708]|Familial thoracic aortic aneurysm and aortic dissection [RCV002313846]|not provided [RCV000489400] Chr2:188989433 [GRCh38]
Chr2:189854159 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087709] Chr2:188990316 [GRCh38]
Chr2:189855042 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087710]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310657] Chr2:188999358 [GRCh38]
Chr2:189864084 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087711] Chr2:189004135 [GRCh38]
Chr2:189868861 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1347+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087712] Chr2:188994595 [GRCh38]
Chr2:189859321 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.413del (p.Pro138fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000087713] Chr2:188985739 [GRCh38]
Chr2:189850465 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2023-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087714] Chr2:188999284 [GRCh38]
Chr2:189864010 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087715] Chr2:189006947 [GRCh38]
Chr2:189871673 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087716] Chr2:188988127 [GRCh38]
Chr2:189852853 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087717] Chr2:188988617 [GRCh38]
Chr2:189853343 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2553+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087718] Chr2:189003063 [GRCh38]
Chr2:189867789 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087719] Chr2:189007939 [GRCh38]
Chr2:189872665 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) insertion Ehlers-Danlos syndrome, type 4 [RCV000087720] Chr2:189008973..189008974 [GRCh38]
Chr2:189873699..189873700 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2553+3A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087721] Chr2:189003065 [GRCh38]
Chr2:189867791 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087722] Chr2:188988091 [GRCh38]
Chr2:189852817 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) single nucleotide variant COL3A1-related disorder [RCV004529910]|Ehlers-Danlos syndrome, type 4 [RCV000087723]|Loeys-Dietz syndrome [RCV000623577] Chr2:189008089 [GRCh38]
Chr2:189872815 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1869+5G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087724] Chr2:188997394 [GRCh38]
Chr2:189862120 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087725]|not provided [RCV002284362] Chr2:189004055 [GRCh38]
Chr2:189868781 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087726] Chr2:189008099 [GRCh38]
Chr2:189872825 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087727] Chr2:189003430 [GRCh38]
Chr2:189868156 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087728] Chr2:188991004 [GRCh38]
Chr2:189855730 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087729] Chr2:188998718 [GRCh38]
Chr2:189863444 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) deletion Ehlers-Danlos syndrome, type 4 [RCV000087730] Chr2:189011658..189011659 [GRCh38]
Chr2:189876384..189876385 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.582+5G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087731] Chr2:188988139 [GRCh38]
Chr2:189852865 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087732] Chr2:189007931 [GRCh38]
Chr2:189872657 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1347+5G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087733] Chr2:188994599 [GRCh38]
Chr2:189859325 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1762-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087734] Chr2:188997163 [GRCh38]
Chr2:189861889 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000087735] Chr2:189004347 [GRCh38]
Chr2:189869073 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
NM_000090.3(COL3A1):c.2089G>A (p.Gly697Arg) single nucleotide variant Malignant melanoma [RCV000065325] Chr2:188999351 [GRCh38]
Chr2:189864077 [GRCh37]
Chr2:189572322 [NCBI36]
Chr2:2q32.2		 not provided
NM_000090.3(COL3A1):c.2188G>A (p.Glu730Lys) single nucleotide variant Malignant melanoma [RCV000065326] Chr2:188999536 [GRCh38]
Chr2:189864262 [GRCh37]
Chr2:189572507 [NCBI36]
Chr2:2q32.2		 not provided
NM_000090.3(COL3A1):c.392C>T (p.Ser131Phe) single nucleotide variant Malignant melanoma [RCV000065320] Chr2:188985723 [GRCh38]
Chr2:189850449 [GRCh37]
Chr2:189558694 [NCBI36]
Chr2:2q32.2		 not provided
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001068374] Chr2:188988590 [GRCh38]
Chr2:189853316 [GRCh37]
Chr2:189561561 [NCBI36]
Chr2:2q32.2		 pathogenic|likely pathogenic|not provided
NM_000090.4(COL3A1):c.804C>T (p.Phe268=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002514316]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182054] Chr2:188991009 [GRCh38]
Chr2:189855735 [GRCh37]
Chr2:189563980 [NCBI36]
Chr2:2q32.2		 likely benign|not provided
NM_000090.3(COL3A1):c.832A>G (p.Thr278Ala) single nucleotide variant Malignant melanoma [RCV000065323] Chr2:188991037 [GRCh38]
Chr2:189855763 [GRCh37]
Chr2:189564008 [NCBI36]
Chr2:2q32.2		 not provided
NM_000090.3(COL3A1):c.974C>A (p.Ala325Asp) single nucleotide variant Malignant melanoma [RCV000065324] Chr2:188992206 [GRCh38]
Chr2:189856932 [GRCh37]
Chr2:189565177 [NCBI36]
Chr2:2q32.2		 not provided
NM_000090.4(COL3A1):c.2975G>A (p.Arg992His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659425]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182273]|not provided [RCV001592841] Chr2:189005393 [GRCh38]
Chr2:189870119 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3526-10C>T single nucleotide variant Connective tissue disorder [RCV000659431]|Ehlers-Danlos syndrome [RCV002279477]|Ehlers-Danlos syndrome, type 4 [RCV000862499]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179868]|not provided [RCV001571899] Chr2:189008914 [GRCh38]
Chr2:189873640 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1924-8C>A single nucleotide variant Connective tissue disorder [RCV000659421]|Ehlers-Danlos syndrome, type 4 [RCV003633530] Chr2:188998258 [GRCh38]
Chr2:189862984 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2824-9C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659424] Chr2:189004248 [GRCh38]
Chr2:189868974 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-16C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002055478]|not provided [RCV001812003]|not specified [RCV000124395] Chr2:188984744 [GRCh38]
Chr2:189849470 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.583-8C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000232634]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769563]|not provided [RCV000588223]|not specified [RCV000124396] Chr2:188988582 [GRCh38]
Chr2:189853308 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1150-13T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659415]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776297]|not provided [RCV001812004]|not specified [RCV000124397] Chr2:188994025 [GRCh38]
Chr2:189858751 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277189]|Ehlers-Danlos syndrome, type 4 [RCV000278608]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776100]|not provided [RCV001812005]|not specified [RCV000124398] Chr2:188994296 [GRCh38]
Chr2:189859022 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277190]|Ehlers-Danlos syndrome, type 4 [RCV000268814]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771266]|not provided [RCV001812006]|not specified [RCV000124400] Chr2:188997173 [GRCh38]
Chr2:189861899 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) single nucleotide variant Ehlers-Danlos syndrome [RCV002277191]|Ehlers-Danlos syndrome, type 4 [RCV000203161]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769567]|not provided [RCV000590111]|not specified [RCV000124401] Chr2:188997207 [GRCh38]
Chr2:189861933 [GRCh37]
Chr2:2q32.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1815+18A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002055479]|not provided [RCV001812007]|not specified [RCV000124402] Chr2:188997236 [GRCh38]
Chr2:189861962 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1816-14G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000369336]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771056]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001588974]|not specified [RCV000124404] Chr2:188997322 [GRCh38]
Chr2:189862048 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000274785]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771057]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001588975]|not provided [RCV001812008]|not specified [RCV000124405] Chr2:188997371 [GRCh38]
Chr2:189862097 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277192]|Ehlers-Danlos syndrome, type 4 [RCV000229097]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771147]|not provided [RCV000588600]|not specified [RCV000124406] Chr2:188998269 [GRCh38]
Chr2:189862995 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1977+9C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000231889]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170893]|not specified [RCV000124407] Chr2:188998328 [GRCh38]
Chr2:189863054 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1978-11C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000316377]|Familial thoracic aortic aneurysm and aortic dissection [RCV000775987]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001588976]|not specified [RCV000124408] Chr2:188998663 [GRCh38]
Chr2:189863389 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2121+18C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002514666]|not specified [RCV000124410] Chr2:188999401 [GRCh38]
Chr2:189864127 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000292059]|Familial thoracic aortic aneurysm and aortic dissection [RCV000775986]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001588977]|not provided [RCV001812009]|not specified [RCV000124411] Chr2:188999856 [GRCh38]
Chr2:189864582 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) single nucleotide variant COL3A1-related disorder [RCV004530078]|Connective tissue disorder [RCV000659423]|Ehlers-Danlos syndrome [RCV002277193]|Ehlers-Danlos syndrome, type 4 [RCV000313108]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777801]|not provided [RCV000755958]|not specified [RCV000124412] Chr2:189004125 [GRCh38]
Chr2:189868851 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3039+16T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002055480]|not provided [RCV003736586]|not specified [RCV000124413] Chr2:189005473 [GRCh38]
Chr2:189870199 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277194]|Ehlers-Danlos syndrome, type 4 [RCV000323932]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770602]|not provided [RCV000589387]|not specified [RCV000124414] Chr2:189009011 [GRCh38]
Chr2:189873737 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000378531]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771833]|not provided [RCV001093162]|not specified [RCV000124415] Chr2:189009040 [GRCh38]
Chr2:189873766 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.4059= (p.His1353=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000472808]|not specified [RCV000124416] Chr2:189010695 [GRCh38]
Chr2:189875421 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1456-16C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003770441]|not provided [RCV001812453] Chr2:188995030 [GRCh38]
Chr2:189859756 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-11T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000363335]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777783] Chr2:188997154 [GRCh38]
Chr2:189861880 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.536del (p.Pro179fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000603455] Chr2:188988083 [GRCh38]
Chr2:189852809 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3824-14T>A single nucleotide variant not specified [RCV000603370] Chr2:189010164 [GRCh38]
Chr2:189874890 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1151G>T (p.Gly384Val) single nucleotide variant not provided [RCV000175122] Chr2:188994039 [GRCh38]
Chr2:189858765 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1348-4dup duplication Ehlers-Danlos syndrome, type 4 [RCV000398775]|not specified [RCV000176028] Chr2:188994708..188994709 [GRCh38]
Chr2:189859434..189859435 [GRCh37]
Chr2:2q32.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) single nucleotide variant Connective tissue disorder [RCV000680499]|Ehlers-Danlos syndrome [RCV002277292]|Ehlers-Danlos syndrome, type 4 [RCV000148458]|Ehlers-Danlos syndrome, type 4 [RCV002505133]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769564]|not provided [RCV000514955]|not specified [RCV000181073] Chr2:188991017 [GRCh38]
Chr2:189855743 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) single nucleotide variant Aortic aneurysm [RCV000148459]|Ehlers-Danlos syndrome [RCV002277293]|Ehlers-Danlos syndrome, type 4 [RCV000325556]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771255]|not provided [RCV003430712]|not specified [RCV000181067] Chr2:188987116 [GRCh38]
Chr2:189851842 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000148460]|Familial thoracic aortic aneurysm and aortic dissection [RCV000157140]|not provided [RCV000586347]|not specified [RCV000212483] Chr2:188995732 [GRCh38]
Chr2:189860458 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) single nucleotide variant Connective tissue disorder [RCV000659433]|Ehlers-Danlos syndrome [RCV000664303]|Ehlers-Danlos syndrome, type 4 [RCV000148461]|Ehlers-Danlos syndrome, type 4 [RCV003224168]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770605]|Loeys-Dietz syndrome [RCV000157142]|not provided [RCV000514567]|not specified [RCV000417378] Chr2:189010292 [GRCh38]
Chr2:189875018 [GRCh37]
Chr2:2q32.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2633G>T (p.Arg878Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002001818] Chr2:189003759 [GRCh38]
Chr2:189868485 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.103C>A (p.Leu35Ile) single nucleotide variant Ehlers-Danlos syndrome [RCV002276918]|Ehlers-Danlos syndrome, type 4 [RCV001907873]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150463] Chr2:188984783 [GRCh38]
Chr2:189849509 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1815+5G>A single nucleotide variant Connective tissue disorder [RCV000659418]|Ehlers-Danlos syndrome [RCV002277377]|Ehlers-Danlos syndrome, type 4 [RCV000986955]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776194]|not provided [RCV000589672]|not specified [RCV000176519] Chr2:188997223 [GRCh38]
Chr2:189861949 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) single nucleotide variant Connective tissue disorder [RCV000659428]|Ehlers-Danlos syndrome [RCV002277404]|Ehlers-Danlos syndrome, type 4 [RCV000210893]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776192]|not provided [RCV000587574]|not specified [RCV000178514] Chr2:189006384 [GRCh38]
Chr2:189871110 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3699G>C (p.Glu1233Asp) single nucleotide variant not provided [RCV003221751] Chr2:189009097 [GRCh38]
Chr2:189873823 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001871698]|not provided [RCV001810573] Chr2:188996397 [GRCh38]
Chr2:189861123 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2633G>A (p.Arg878His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180997] Chr2:189003759 [GRCh38]
Chr2:189868485 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh38/hg38 2q32.2(chr2:188947503-189689613)x1 copy number loss See cases [RCV000135772] Chr2:188947503..189689613 [GRCh38]
Chr2:189812229..190554339 [GRCh37]
Chr2:189520474..190262584 [NCBI36]
Chr2:2q32.2		 pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1 copy number loss See cases [RCV000136861] Chr2:174634502..189000964 [GRCh38]
Chr2:175499230..189865690 [GRCh37]
Chr2:175207476..189573935 [NCBI36]
Chr2:2q31.1-32.2		 pathogenic
NM_000090.4(COL3A1):c.2135C>T (p.Pro712Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000202857]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179545] Chr2:188999483 [GRCh38]
Chr2:189864209 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
NM_000090.4(COL3A1):c.911C>A (p.Ala304Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000157139] Chr2:188991682 [GRCh38]
Chr2:189856408 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000687655]|Ehlers-Danlos syndrome, type 4 [RCV002492606]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189652]|Marfan syndrome [RCV000157141] Chr2:189007570 [GRCh38]
Chr2:189872296 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1869+6T>G single nucleotide variant Arterial dissection [RCV000157143]|COL3A1-related disorder [RCV004535020]|Ehlers-Danlos syndrome, type 4 [RCV001048087]|not provided [RCV000788420] Chr2:188997395 [GRCh38]
Chr2:189862121 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.3(COL3A1):c.798_799delAG deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000181117] Chr2:2q32.2 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003996593]|not provided [RCV000181101] Chr2:189004009 [GRCh38]
Chr2:189868735 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634727]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190473]|not provided [RCV001721133] Chr2:189005437 [GRCh38]
Chr2:189870163 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) single nucleotide variant COL3A1-related disorder [RCV004539700]|Ehlers-Danlos syndrome, type 4 [RCV000226013]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777792]|not specified [RCV000181104] Chr2:189006227 [GRCh38]
Chr2:189870953 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001852259]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189514] Chr2:189006352 [GRCh38]
Chr2:189871078 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000813629]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176083]|not provided [RCV000181107] Chr2:189006980 [GRCh38]
Chr2:189871706 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000817365] Chr2:189007510 [GRCh38]
Chr2:189872236 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3307G>C (p.Ala1103Pro) single nucleotide variant not provided [RCV000181109] Chr2:189007551 [GRCh38]
Chr2:189872277 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) single nucleotide variant Ehlers-Danlos syndrome [RCV002277439]|Ehlers-Danlos syndrome, type 4 [RCV000692659]|Ehlers-Danlos syndrome, type 4 [RCV002492798]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778021]|not provided [RCV000181110] Chr2:189007569 [GRCh38]
Chr2:189872295 [GRCh37]
Chr2:2q32.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3329G>A (p.Gly1110Glu) single nucleotide variant not provided [RCV000181111] Chr2:189007573 [GRCh38]
Chr2:189872299 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000515270]|Ehlers-Danlos syndrome, type 4 [RCV001087510]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771822]|not provided [RCV000725829] Chr2:189009216 [GRCh38]
Chr2:189873942 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002517768]|not provided [RCV000181113] Chr2:189010288 [GRCh38]
Chr2:189875014 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000351166]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771816]|not provided [RCV000726900]|not specified [RCV001194125] Chr2:189010657 [GRCh38]
Chr2:189875383 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002478604]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184789]|not provided [RCV000181116] Chr2:189010708 [GRCh38]
Chr2:189875434 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1205_1206delinsAA (p.Gly402Glu) indel not provided [RCV000181118] Chr2:188994244..188994245 [GRCh38]
Chr2:189858970..189858971 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.4180_4189del (p.Gly1394fs) deletion not provided [RCV000181119] Chr2:189010813..189010822 [GRCh38]
Chr2:189875539..189875548 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.101A>G (p.His34Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000709845]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190444]|not provided [RCV000181120] Chr2:188984781 [GRCh38]
Chr2:189849507 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.565G>A (p.Gly189Ser) single nucleotide variant not provided [RCV000181121] Chr2:188988117 [GRCh38]
Chr2:189852843 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000709719]|Familial aortopathy [RCV003479047]|not provided [RCV000181123] Chr2:189010723 [GRCh38]
Chr2:189875449 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) single nucleotide variant Connective tissue disorder [RCV000659409]|Ehlers-Danlos syndrome, type 4 [RCV000463884]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777600]|not provided [RCV001093157]|not specified [RCV000181045] Chr2:188984794 [GRCh38]
Chr2:189849520 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) single nucleotide variant Connective tissue disorder [RCV000659410]|Ehlers-Danlos syndrome, type 4 [RCV000355476]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188677]|not provided [RCV000766806]|not specified [RCV000181046] Chr2:188984799 [GRCh38]
Chr2:189849525 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001852258]|Ehlers-Danlos syndrome, type 4 [RCV002492796]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185489]|not provided [RCV001721132] Chr2:188984801 [GRCh38]
Chr2:189849527 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1051-13G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000396576]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188352]|not specified [RCV000181048] Chr2:188993348 [GRCh38]
Chr2:189858074 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001037428]|not specified [RCV000181049] Chr2:188994273 [GRCh38]
Chr2:189858999 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1348-4del deletion Ehlers-Danlos syndrome, type 4 [RCV000303185]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181050]|not provided [RCV001668346] Chr2:188994709 [GRCh38]
Chr2:189859435 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) single nucleotide variant Cardiovascular phenotype [RCV000248331]|Ehlers-Danlos syndrome, type 4 [RCV002500524]|Ehlers-Danlos syndrome, type 4 [RCV002515303]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170890]|not provided [RCV001678587] Chr2:188994800 [GRCh38]
Chr2:189859526 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277433]|Ehlers-Danlos syndrome, type 4 [RCV000757112]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769566]|not provided [RCV001812162]|not specified [RCV000181052] Chr2:188996175 [GRCh38]
Chr2:189860901 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2022+5T>C single nucleotide variant Ehlers-Danlos syndrome [RCV002277434]|Ehlers-Danlos syndrome, type 4 [RCV000458021]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769569]|not provided [RCV001812163]|not specified [RCV000181053] Chr2:188998723 [GRCh38]
Chr2:189863449 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001081847]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185496]|not provided [RCV000588360] Chr2:188999318 [GRCh38]
Chr2:189864044 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000477906]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189436]|not specified [RCV000181056] Chr2:188999854 [GRCh38]
Chr2:189864580 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.3(COL3A1):c.2242_2244delinsAGC (p.Gly748Ser) indel Familial thoracic aortic aneurysm and aortic dissection [RCV000181057] Chr2:188999854..188999856 [GRCh38]
Chr2:189864580..189864582 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000463723]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778018]|not provided [RCV000766809]|not specified [RCV000181058] Chr2:189003007 [GRCh38]
Chr2:189867733 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) single nucleotide variant COL3A1-related disorder [RCV004539699]|Ehlers-Danlos syndrome [RCV002277435]|Ehlers-Danlos syndrome, type 4 [RCV001086755]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777802]|not provided [RCV000457557]|not specified [RCV000181059] Chr2:189004020 [GRCh38]
Chr2:189868746 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3202-14del deletion Ehlers-Danlos syndrome, type 4 [RCV000317947]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181060]|not provided [RCV003480076]|not specified [RCV003398905] Chr2:189006923 [GRCh38]
Chr2:189871649 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.3525+19G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002054161]|not specified [RCV000181061] Chr2:189008161 [GRCh38]
Chr2:189872887 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3525+19del deletion Connective tissue disorder [RCV000659430]|Ehlers-Danlos syndrome, type 4 [RCV002054162]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181062]|not provided [RCV001812164]|not specified [RCV000242246] Chr2:189008161 [GRCh38]
Chr2:189872887 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277436]|Ehlers-Danlos syndrome, type 4 [RCV000757113]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770603]|not provided [RCV001812165]|not specified [RCV000181063] Chr2:189009052 [GRCh38]
Chr2:189873778 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000226945]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183976]|not provided [RCV001704860]|not specified [RCV003330540] Chr2:188984810 [GRCh38]
Chr2:189849536 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000541054]|Ehlers-Danlos syndrome, type 4 [RCV002478602]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771906]|not provided [RCV000709865] Chr2:188984883 [GRCh38]
Chr2:189849609 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.266C>G (p.Pro89Arg) single nucleotide variant not provided [RCV000181066] Chr2:188984946 [GRCh38]
Chr2:189849672 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.528+5G>C single nucleotide variant not provided [RCV000181068] Chr2:188987144 [GRCh38]
Chr2:189851870 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) single nucleotide variant COL3A1-related disorder [RCV004537520]|Ehlers-Danlos syndrome, type 4 [RCV000698663]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190472]|not provided [RCV000586266] Chr2:188988112 [GRCh38]
Chr2:189852838 [GRCh37]
Chr2:2q32.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) single nucleotide variant Ehlers-Danlos syndrome [RCV002277437]|Ehlers-Danlos syndrome, type 4 [RCV003633485]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185490]|not provided [RCV000181070] Chr2:188988593 [GRCh38]
Chr2:189853319 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) single nucleotide variant Connective tissue disorder [RCV000659413]|Ehlers-Danlos syndrome, type 4 [RCV001245344]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185491]|not provided [RCV000181071] Chr2:188990111 [GRCh38]
Chr2:189854837 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.842C>A (p.Pro281His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001212891]|Ehlers-Danlos syndrome, type 4 [RCV002500525]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176344]|not provided [RCV000181074] Chr2:188991047 [GRCh38]
Chr2:189855773 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001051687]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170887]|not provided [RCV000505729] Chr2:188992914 [GRCh38]
Chr2:189857640 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1028T>C (p.Phe343Ser) single nucleotide variant not provided [RCV000181077] Chr2:188992918 [GRCh38]
Chr2:189857644 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1030C>T (p.Pro344Ser) single nucleotide variant not provided [RCV000181078] Chr2:188992920 [GRCh38]
Chr2:189857646 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) single nucleotide variant COL3A1-related disorder [RCV004537521]|Ehlers-Danlos syndrome, type 4 [RCV000465133]|Ehlers-Danlos syndrome, type 4 [RCV002478603]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778019]|not provided [RCV000181079] Chr2:188994053 [GRCh38]
Chr2:189858779 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1223G>A (p.Gly408Glu) single nucleotide variant not provided [RCV000181080] Chr2:188994262 [GRCh38]
Chr2:189858988 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000533423] Chr2:188994280 [GRCh38]
Chr2:189859006 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381583]|not provided [RCV000181082] Chr2:188994541 [GRCh38]
Chr2:189859267 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003996592]|Familial thoracic aortic aneurysm and aortic dissection [RCV003298228]|not provided [RCV000181083] Chr2:188995062 [GRCh38]
Chr2:189859788 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1622G>T (p.Ser541Ile) single nucleotide variant not provided [RCV000181085] Chr2:188996138 [GRCh38]
Chr2:189860864 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1676A>C (p.Glu559Ala) single nucleotide variant not provided [RCV000181087] Chr2:188996411 [GRCh38]
Chr2:189861137 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002492797]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804910]|not provided [RCV000181089] Chr2:188997751 [GRCh38]
Chr2:189862477 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) single nucleotide variant Ehlers-Danlos syndrome [RCV002277438]|Ehlers-Danlos syndrome, type 4 [RCV000380172]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769568]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV003993864]|not provided [RCV000514205]|not specified [RCV000214945] Chr2:188998698 [GRCh38]
Chr2:189863424 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001084087]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777806]|not provided [RCV000586968]|not specified [RCV000181093] Chr2:188998698 [GRCh38]
Chr2:189863424 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.2132G>T (p.Gly711Val) single nucleotide variant not provided [RCV000181094] Chr2:188999480 [GRCh38]
Chr2:189864206 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2338-2A>G single nucleotide variant not provided [RCV000181095] Chr2:189001534 [GRCh38]
Chr2:189866260 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2464G>A (p.Gly822Ser) single nucleotide variant not provided [RCV000181096] Chr2:189002973 [GRCh38]
Chr2:189867699 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001304393]|not provided [RCV000181097] Chr2:189002994 [GRCh38]
Chr2:189867720 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000230019]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185492]|not provided [RCV000181098] Chr2:189003463 [GRCh38]
Chr2:189868189 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000810829]|Ehlers-Danlos syndrome, type 4 [RCV002485187]|Familial thoracic aortic aneurysm and aortic dissection [RCV000778020]|not provided [RCV000181099] Chr2:189003985 [GRCh38]
Chr2:189868711 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2668C>T (p.Pro890Ser) single nucleotide variant not provided [RCV000181100] Chr2:189003988 [GRCh38]
Chr2:189868714 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001394806]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175639]|not provided [RCV000586451]|not specified [RCV000179065] Chr2:189010722 [GRCh38]
Chr2:189875448 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.-80G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000259386]|not provided [RCV001570441] Chr2:188974410 [GRCh38]
Chr2:189839136 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001080848]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181041]|not provided [RCV000724608]|not specified [RCV003323427] Chr2:189003059 [GRCh38]
Chr2:189867785 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278510]|Ehlers-Danlos syndrome, type 4 [RCV000394989]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183992] Chr2:189003002 [GRCh38]
Chr2:189867728 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002278511]|Ehlers-Danlos syndrome, type 4 [RCV000400728]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176075]|not provided [RCV000521444] Chr2:189004043 [GRCh38]
Chr2:189868769 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4096C>T (p.Gln1366Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000195998] Chr2:189010732 [GRCh38]
Chr2:189875458 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000296310]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777771] Chr2:189010656 [GRCh38]
Chr2:189875382 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2110G>A (p.Glu704Lys) single nucleotide variant Abnormality of neuronal migration [RCV000201324]|Ehlers-Danlos syndrome, type 4 [RCV000462828]|Ehlers-Danlos syndrome, type 4 [RCV002500584] Chr2:188999372 [GRCh38]
Chr2:189864098 [GRCh37]
Chr2:2q32.2		 pathogenic|benign|uncertain significance
NM_000090.4(COL3A1):c.80-13A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000298229]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777773]|not provided [RCV001712060] Chr2:188984747 [GRCh38]
Chr2:189849473 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3694G>A (p.Asp1232Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000284830]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179549] Chr2:189009092 [GRCh38]
Chr2:189873818 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.432C>T (p.Cys144=) single nucleotide variant COL3A1-related disorder [RCV004530337]|Ehlers-Danlos syndrome, type 4 [RCV000270624]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182011]|not provided [RCV002510873] Chr2:188985763 [GRCh38]
Chr2:189850489 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000259314]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528167]|not provided [RCV000997619] Chr2:189008974 [GRCh38]
Chr2:189873700 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3544G>C (p.Gly1182Arg) single nucleotide variant not provided [RCV000380680] Chr2:189008942 [GRCh38]
Chr2:189873668 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000367802]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181772]|not provided [RCV002510874] Chr2:189005376 [GRCh38]
Chr2:189870102 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3755A>T (p.Asp1252Val) single nucleotide variant Disproportionate tall stature [RCV001837758] Chr2:189009153 [GRCh38]
Chr2:189873879 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002493385]|Ehlers-Danlos syndrome, type 4 [RCV003523024]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000758210] Chr2:188994321 [GRCh38]
Chr2:189859047 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.419T>C (p.Ile140Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525930]|not provided [RCV000755960] Chr2:188985750 [GRCh38]
Chr2:189850476 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001085682]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187409]|not provided [RCV000222293] Chr2:189002999 [GRCh38]
Chr2:189867725 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3626G>C (p.Gly1209Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000210901]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772065]|not provided [RCV001753633] Chr2:189009024 [GRCh38]
Chr2:189873750 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000986956]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244220]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001589110]|not provided [RCV001812219]|not specified [RCV000218509] Chr2:189010695 [GRCh38]
Chr2:189875421 [GRCh37]
Chr2:2q32.2		 pathogenic|benign
NM_000090.4(COL3A1):c.754G>T (p.Gly252Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000222891]|not provided [RCV001589122] Chr2:188990316 [GRCh38]
Chr2:189855042 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) single nucleotide variant COL3A1-related disorder [RCV004541659]|Ehlers-Danlos syndrome, type 4 [RCV000543408]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186903]|not specified [RCV001778994] Chr2:189011711 [GRCh38]
Chr2:189876437 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2843G>A (p.Gly948Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000232240]|not provided [RCV003317163] Chr2:189004276 [GRCh38]
Chr2:189869002 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2220G>A (p.Lys740=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000228434]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772066] Chr2:188999568 [GRCh38]
Chr2:189864294 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1509+5A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000357587]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177068]|not provided [RCV001718705] Chr2:188995104 [GRCh38]
Chr2:189859830 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.2713C>T (p.Pro905Ser) single nucleotide variant not provided [RCV000757114] Chr2:189004033 [GRCh38]
Chr2:189868759 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1285G>A (p.Gly429Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001377941]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170889]|not provided [RCV000757116] Chr2:188994324 [GRCh38]
Chr2:189859050 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3001C>T (p.Pro1001Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314216] Chr2:189005419 [GRCh38]
Chr2:189870145 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.898-5T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000337136]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771832]|not provided [RCV001706544] Chr2:188991664 [GRCh38]
Chr2:189856390 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1744G>T (p.Gly582Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659417] Chr2:188996479 [GRCh38]
Chr2:189861205 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278512]|Ehlers-Danlos syndrome, type 4 [RCV000345498]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183991] Chr2:189010320 [GRCh38]
Chr2:189875046 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_000090.4(COL3A1):c.3515G>C (p.Arg1172Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000546167] Chr2:189008132 [GRCh38]
Chr2:189872858 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.752A>G (p.Lys251Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000524944]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314961]|not provided [RCV001764547] Chr2:188990314 [GRCh38]
Chr2:189855040 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000548065]|Ehlers-Danlos syndrome, type 4 [RCV002476117]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528190]|not provided [RCV002461293]|not specified [RCV000780195] Chr2:188998314 [GRCh38]
Chr2:189863040 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3068G>A (p.Gly1023Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659426]|not provided [RCV001541071] Chr2:189006234 [GRCh38]
Chr2:189870960 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3009G>T (p.Leu1003=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633525]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190494]|not specified [RCV000606198] Chr2:189005427 [GRCh38]
Chr2:189870153 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.898-2A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314223] Chr2:188991667 [GRCh38]
Chr2:189856393 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.219C>T (p.Asp73=) single nucleotide variant Connective tissue disorder [RCV000659411]|Ehlers-Danlos syndrome [RCV002277601]|Ehlers-Danlos syndrome, type 4 [RCV001433214]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184768]|not specified [RCV000246001] Chr2:188984899 [GRCh38]
Chr2:189849625 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.897+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522951]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311221]|not provided [RCV001171819] Chr2:188991535 [GRCh38]
Chr2:189856261 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.283-45G>T single nucleotide variant not specified [RCV000246077] Chr2:188985152 [GRCh38]
Chr2:189849878 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*799_*800del deletion Ehlers-Danlos syndrome, type 4 [RCV000281199] Chr2:189012573..189012574 [GRCh38]
Chr2:189877299..189877300 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4003G>A (p.Gly1335Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001337142]|Ehlers-Danlos syndrome, type 4 [RCV001535494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190246]|not provided [RCV003441828] Chr2:189010357 [GRCh38]
Chr2:189875083 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) single nucleotide variant Cardiovascular phenotype [RCV000248612]|not provided [RCV000788728] Chr2:188994271 [GRCh38]
Chr2:189858997 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.531C>A (p.Gly177=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002058498]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310849]|not provided [RCV001576468] Chr2:188988083 [GRCh38]
Chr2:189852809 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1050+43G>T single nucleotide variant not specified [RCV000248746] Chr2:188992983 [GRCh38]
Chr2:189857709 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2801C>T (p.Ser934Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002503960]|Ehlers-Danlos syndrome, type 4 [RCV003995704]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183768] Chr2:189004121 [GRCh38]
Chr2:189868847 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2608-50C>T single nucleotide variant not provided [RCV000832653]|not specified [RCV000251129] Chr2:189003684 [GRCh38]
Chr2:189868410 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) single nucleotide variant Cardiovascular phenotype [RCV000251179]|Ehlers-Danlos syndrome, type 4 [RCV001859444]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181617]|not provided [RCV001553378]|not specified [RCV001000691] Chr2:189010709 [GRCh38]
Chr2:189875435 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3937A>C (p.Lys1313Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000765599]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188120]|not provided [RCV003456388] Chr2:189010291 [GRCh38]
Chr2:189875017 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2642del (p.Pro881fs) deletion Cardiovascular phenotype [RCV000246359] Chr2:189003767 [GRCh38]
Chr2:189868493 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2391+28del deletion not provided [RCV000832634]|not specified [RCV000246397] Chr2:189001617 [GRCh38]
Chr2:189866343 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1727G>A (p.Gly576Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310847] Chr2:188996462 [GRCh38]
Chr2:189861188 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.198A>G (p.Ile66Met) single nucleotide variant Cardiovascular phenotype [RCV000248865]|Ehlers-Danlos syndrome, type 4 [RCV000634706]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772093]|not provided [RCV001582895] Chr2:188984878 [GRCh38]
Chr2:189849604 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2519G>T (p.Gly840Val) single nucleotide variant Cardiovascular phenotype [RCV000251230] Chr2:189003028 [GRCh38]
Chr2:189867754 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000321117]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177066]|not provided [RCV003328577] Chr2:189009173 [GRCh38]
Chr2:189873899 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000821095]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310908]|not provided [RCV001764236]|not specified [RCV003114435] Chr2:188988106 [GRCh38]
Chr2:189852832 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2337+23T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001589225]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001589226]|not provided [RCV000830139]|not specified [RCV000253758] Chr2:189001473 [GRCh38]
Chr2:189866199 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.121G>A (p.Asp41Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001207845]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311115] Chr2:188984801 [GRCh38]
Chr2:189849527 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278225]|Ehlers-Danlos syndrome, type 4 [RCV000384960]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771758]|not provided [RCV000858537] Chr2:189009175 [GRCh38]
Chr2:189873901 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3202-40G>A single nucleotide variant not provided [RCV000832655]|not specified [RCV000246548] Chr2:189006897 [GRCh38]
Chr2:189871623 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000548509]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772103]|not provided [RCV001770419] Chr2:188996178 [GRCh38]
Chr2:189860904 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3202-36C>T single nucleotide variant not provided [RCV000832656]|not specified [RCV000241786] Chr2:189006901 [GRCh38]
Chr2:189871627 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.582+12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002055022]|not specified [RCV000244169] Chr2:188988146 [GRCh38]
Chr2:189852872 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3200G>A (p.Ser1067Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000802036]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311084] Chr2:189006451 [GRCh38]
Chr2:189871177 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4080C>G (p.Leu1360=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001396555]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180370] Chr2:189010716 [GRCh38]
Chr2:189875442 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000551017] Chr2:188988626 [GRCh38]
Chr2:189853352 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1813C>G (p.Gln605Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001048399]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179384] Chr2:188997216 [GRCh38]
Chr2:189861942 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser) single nucleotide variant Cardiovascular phenotype [RCV000249545]|Ehlers-Danlos syndrome, type 4 [RCV003999023] Chr2:189006940 [GRCh38]
Chr2:189871666 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) single nucleotide variant Cardiovascular phenotype [RCV000252013]|Ehlers-Danlos syndrome, type 4 [RCV002518690]|See cases [RCV002287399]|not provided [RCV001268024] Chr2:189006964 [GRCh38]
Chr2:189871690 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3256-28G>A single nucleotide variant not specified [RCV000249688] Chr2:189007472 [GRCh38]
Chr2:189872198 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3500_3501delinsAA (p.Gly1167Glu) indel Cardiovascular phenotype [RCV000252094] Chr2:189008117..189008118 [GRCh38]
Chr2:189872843..189872844 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) single nucleotide variant COL3A1-related disorder [RCV004542941]|Ehlers-Danlos syndrome, type 4 [RCV000477513]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187312]|not specified [RCV000424322] Chr2:188995066 [GRCh38]
Chr2:189859792 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.708C>G (p.Pro236=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002057301]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176607]|not specified [RCV000254544] Chr2:188990113 [GRCh38]
Chr2:189854839 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr) single nucleotide variant Cardiovascular phenotype [RCV000249838]|Ehlers-Danlos syndrome, type 4 [RCV000868023]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189402] Chr2:188987119 [GRCh38]
Chr2:189851845 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4011+34A>G single nucleotide variant not provided [RCV000833071]|not specified [RCV000252319] Chr2:189010399 [GRCh38]
Chr2:189875125 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3824-31C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001589227]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001589228]|not provided [RCV001689771]|not specified [RCV000247555] Chr2:189010147 [GRCh38]
Chr2:189874873 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1241G>A (p.Gly414Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003335290]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310857] Chr2:188994280 [GRCh38]
Chr2:189859006 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3806A>G (p.His1269Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002518682]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310843] Chr2:189009204 [GRCh38]
Chr2:189873930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002278235]|Ehlers-Danlos syndrome, type 4 [RCV000389469]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186234]|not provided [RCV001564374] Chr2:188987126 [GRCh38]
Chr2:189851852 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000458398]|Ehlers-Danlos syndrome, type 4 [RCV002503957]|Familial thoracic aortic aneurysm and aortic dissection [RCV004021017] Chr2:189004360 [GRCh38]
Chr2:189869086 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.52C>T (p.Pro18Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310866] Chr2:188974541 [GRCh38]
Chr2:189839267 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.528+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000464806]|Ehlers-Danlos syndrome, type 4 [RCV001535582]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310842]|not provided [RCV000512993] Chr2:188987144 [GRCh38]
Chr2:189851870 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance|not provided
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000554446]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189412]|not provided [RCV001582894]|not specified [RCV002229709] Chr2:189002998 [GRCh38]
Chr2:189867724 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2022+4G>A single nucleotide variant Cardiovascular phenotype [RCV000252523]|Ehlers-Danlos syndrome, type 4 [RCV002519951] Chr2:188998722 [GRCh38]
Chr2:189863448 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2661+22T>A single nucleotide variant not specified [RCV000242890] Chr2:189003809 [GRCh38]
Chr2:189868535 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001057358]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191119]|not provided [RCV000481073]|not specified [RCV000780197] Chr2:188994044 [GRCh38]
Chr2:189858770 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) single nucleotide variant Ehlers-Danlos syndrome [RCV002278228]|Ehlers-Danlos syndrome, type 4 [RCV000264796]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771273]|not provided [RCV000520803] Chr2:188984897 [GRCh38]
Chr2:189849623 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001078840]|Ehlers-Danlos syndrome, type 4 [RCV003224308]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777601]|not provided [RCV000757115] Chr2:188994076 [GRCh38]
Chr2:189858802 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4088G>C (p.Arg1363Pro) single nucleotide variant not provided [RCV000521966] Chr2:189010724 [GRCh38]
Chr2:189875450 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) single nucleotide variant Cardiovascular phenotype [RCV000243091]|Ehlers-Danlos syndrome, type 4 [RCV003633493]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770607]|not specified [RCV003330610] Chr2:189011673 [GRCh38]
Chr2:189876399 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2394T>C (p.Gly798=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001439386]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777868] Chr2:189002300 [GRCh38]
Chr2:189867026 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1303G>A (p.Gly435Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001854975]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310867] Chr2:188994550 [GRCh38]
Chr2:189859276 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.266C>T (p.Pro89Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000553256]|Ehlers-Danlos syndrome, type 4 [RCV002503958]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170884]|not provided [RCV001707606] Chr2:188984946 [GRCh38]
Chr2:189849672 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3859T>C (p.Leu1287=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002058499]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180831]|not provided [RCV000840251] Chr2:189010213 [GRCh38]
Chr2:189874939 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+10G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000866182]|not specified [RCV000243316] Chr2:188998329 [GRCh38]
Chr2:189863055 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-5_1348-4del deletion Ehlers-Danlos syndrome, type 4 [RCV002058496]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310839] Chr2:188994709..188994710 [GRCh38]
Chr2:189859435..189859436 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.3:c.4059T>G single nucleotide variant Thoracic aortic aneurysm and aortic dissection [RCV000244220] Chr2:2q32.2 benign
NM_000090.4(COL3A1):c.2802G>A (p.Ser934=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001495227]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183742]|not specified [RCV000610018] Chr2:189004122 [GRCh38]
Chr2:189868848 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001204079]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310838]|See cases [RCV002252067]|not provided [RCV000418506]|not specified [RCV000608441] Chr2:189003464 [GRCh38]
Chr2:189868190 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.*592T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000333234] Chr2:189012366 [GRCh38]
Chr2:189877092 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000354175]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177333]|not provided [RCV000841965] Chr2:189007911 [GRCh38]
Chr2:189872637 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1509+7A>C single nucleotide variant Ehlers-Danlos syndrome [RCV002278509]|Ehlers-Danlos syndrome, type 4 [RCV000399574]|not specified [RCV001192746] Chr2:188995106 [GRCh38]
Chr2:189859832 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.*88C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000401649] Chr2:189011862 [GRCh38]
Chr2:189876588 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.*43A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000337056]|not provided [RCV001712062] Chr2:189011817 [GRCh38]
Chr2:189876543 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.*354C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000357955] Chr2:189012128 [GRCh38]
Chr2:189876854 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1856C>T (p.Pro619Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000319906]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189166]|not provided [RCV000523302] Chr2:188997376 [GRCh38]
Chr2:189862102 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3998A>G (p.Asp1333Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000381462]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485577]|not provided [RCV001753796] Chr2:189010352 [GRCh38]
Chr2:189875078 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*406A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000381843]|Ehlers-Danlos syndrome, type 4 [RCV002504123] Chr2:189012180 [GRCh38]
Chr2:189876906 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.333+15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000383757]|not provided [RCV003736726] Chr2:188985262 [GRCh38]
Chr2:189849988 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.-101G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000361146] Chr2:188974389 [GRCh38]
Chr2:189839115 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2712C>T (p.Pro904=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000307111]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177869]|not provided [RCV001712061] Chr2:189004032 [GRCh38]
Chr2:189868758 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*622T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000387747] Chr2:189012396 [GRCh38]
Chr2:189877122 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu) single nucleotide variant COL3A1-related disorder [RCV004544614]|Ehlers-Danlos syndrome, type 4 [RCV000308672]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178574] Chr2:188996432 [GRCh38]
Chr2:189861158 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.284C>T (p.Pro95Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000329215]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188676] Chr2:188985198 [GRCh38]
Chr2:189849924 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*674G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000348594] Chr2:189012448 [GRCh38]
Chr2:189877174 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.*34T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000311610] Chr2:189011808 [GRCh38]
Chr2:189876534 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.*923A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000396584] Chr2:189012697 [GRCh38]
Chr2:189877423 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*370A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000272703] Chr2:189012144 [GRCh38]
Chr2:189876870 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2553+9C>T single nucleotide variant not provided [RCV000323767] Chr2:189003071 [GRCh38]
Chr2:189867797 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*317C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000266810] Chr2:189012091 [GRCh38]
Chr2:189876817 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*467T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000268737]|Ehlers-Danlos syndrome, type 4 [RCV002487479] Chr2:189012241 [GRCh38]
Chr2:189876967 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3935G>A (p.Arg1312Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002487200]|Ehlers-Danlos syndrome, type 4 [RCV002518871]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528164]|not provided [RCV000269491] Chr2:189010289 [GRCh38]
Chr2:189875015 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1774A>C (p.Lys592Gln) single nucleotide variant not provided [RCV002283078] Chr2:188997177 [GRCh38]
Chr2:189861903 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001269145] Chr2:189003753 [GRCh38]
Chr2:189868479 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1526G>A (p.Arg509His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000818956]|Ehlers-Danlos syndrome, type 4 [RCV002508936]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191863]|not provided [RCV000489573] Chr2:188995708 [GRCh38]
Chr2:189860434 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.200G>C (p.Cys67Ser) single nucleotide variant not provided [RCV000489656] Chr2:188984880 [GRCh38]
Chr2:189849606 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2022+17T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003096359]|not specified [RCV002283377] Chr2:188998735 [GRCh38]
Chr2:189863461 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1342G>A (p.Glu448Lys) single nucleotide variant Ehlers-Danlos syndrome [RCV002279313]|not provided [RCV000523803] Chr2:188994589 [GRCh38]
Chr2:189859315 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000090.4(COL3A1):c.3983T>G (p.Phe1328Cys) single nucleotide variant not provided [RCV000594629] Chr2:189010337 [GRCh38]
Chr2:189875063 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.898-1G>A single nucleotide variant Hereditary spastic paraplegia 4 [RCV003314535] Chr2:188991668 [GRCh38]
Chr2:189856394 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2190A>T (p.Glu730Asp) single nucleotide variant Isolated thoracic aortic aneurysm [RCV001374776] Chr2:188999538 [GRCh38]
Chr2:189864264 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2752G>A (p.Gly918Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659422]|not provided [RCV000489950] Chr2:189004072 [GRCh38]
Chr2:189868798 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2996G>T (p.Gly999Val) single nucleotide variant not provided [RCV000488931] Chr2:189005414 [GRCh38]
Chr2:189870140 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2904G>A (p.Arg968=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001406803]|Familial thoracic aortic aneurysm and aortic dissection [RCV004024951]|not specified [RCV000601736] Chr2:189004337 [GRCh38]
Chr2:189869063 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*325C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000303279] Chr2:189012099 [GRCh38]
Chr2:189876825 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000346978]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805022] Chr2:189001562 [GRCh38]
Chr2:189866288 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2678C>G (p.Pro893Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001343163]|not provided [RCV000520851] Chr2:189003998 [GRCh38]
Chr2:189868724 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*625C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000293704] Chr2:189012399 [GRCh38]
Chr2:189877125 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1338T>A (p.Arg446=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002525143]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528182]|not provided [RCV000521054] Chr2:188994585 [GRCh38]
Chr2:189859311 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.*947C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000305914] Chr2:189012721 [GRCh38]
Chr2:189877447 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2963T>A (p.Leu988His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000528621]|Ehlers-Danlos syndrome, type 4 [RCV002490974] Chr2:189005381 [GRCh38]
Chr2:189870107 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.529-5T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000295198] Chr2:188988076 [GRCh38]
Chr2:189852802 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.583-7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000385767]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180604] Chr2:188988583 [GRCh38]
Chr2:189853309 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.*818T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000336292] Chr2:189012592 [GRCh38]
Chr2:189877318 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000552040]|not provided [RCV004546514] Chr2:189006445 [GRCh38]
Chr2:189871171 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.*89G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000297171] Chr2:189011863 [GRCh38]
Chr2:189876589 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2714C>T (p.Pro905Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000371361] Chr2:189004034 [GRCh38]
Chr2:189868760 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2065G>T (p.Ala689Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000340793]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528166] Chr2:188999327 [GRCh38]
Chr2:189864053 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000531290]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190483] Chr2:189008117 [GRCh38]
Chr2:189872843 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.*692G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000375148] Chr2:189012466 [GRCh38]
Chr2:189877192 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4142A>G (p.Gln1381Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000394732] Chr2:189010778 [GRCh38]
Chr2:189875504 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1421G>T (p.Gly474Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314219] Chr2:188994797 [GRCh38]
Chr2:189859523 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.*371G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000327293] Chr2:189012145 [GRCh38]
Chr2:189876871 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1657C>T (p.Pro553Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004002713]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179397] Chr2:188996173 [GRCh38]
Chr2:189860899 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*113C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000361230] Chr2:189011887 [GRCh38]
Chr2:189876613 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) single nucleotide variant Connective tissue disorder [RCV000659427]|Ehlers-Danlos syndrome, type 4 [RCV000549007]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184754]|not provided [RCV001696934] Chr2:189006383 [GRCh38]
Chr2:189871109 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) single nucleotide variant COL3A1-related disorder [RCV004530636]|Ehlers-Danlos syndrome, type 4 [RCV001085406]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772487]|not provided [RCV000587356] Chr2:189008935 [GRCh38]
Chr2:189873661 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3532C>T (p.Pro1178Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001302811]|Ehlers-Danlos syndrome, type 4 [RCV002483748]|Inborn genetic diseases [RCV000622384] Chr2:189008930 [GRCh38]
Chr2:189873656 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2121+10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003767473]|not provided [RCV001722581] Chr2:188999393 [GRCh38]
Chr2:189864119 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4276A>G (p.Lys1426Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004002398]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180322]|not provided [RCV000587798] Chr2:189011649 [GRCh38]
Chr2:189876375 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001138890]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163303] Chr2:188984947 [GRCh38]
Chr2:189849673 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.282+13A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001138891] Chr2:188984975 [GRCh38]
Chr2:189849701 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1335A>G (p.Pro445=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000553654]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528187] Chr2:188994582 [GRCh38]
Chr2:189859308 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.645A>C (p.Pro215=) single nucleotide variant not provided [RCV000592896] Chr2:188989404 [GRCh38]
Chr2:189854130 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1061_1062insTA (p.Pro355fs) insertion not provided [RCV000627495] Chr2:188993371..188993372 [GRCh38]
Chr2:189858097..189858098 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) single nucleotide variant COL3A1-related disorder [RCV004537869]|Ehlers-Danlos syndrome, type 4 [RCV000634714]|Ehlers-Danlos syndrome, type 4 [RCV001535492]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769562]|not provided [RCV000523264]|not specified [RCV003330740] Chr2:188987083 [GRCh38]
Chr2:189851809 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.1337G>A (p.Arg446His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000531936]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184266] Chr2:188994584 [GRCh38]
Chr2:189859310 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.1586T>C (p.Val529Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002481700]|Ehlers-Danlos syndrome, type 4 [RCV002527585]|not specified [RCV000523603] Chr2:188995768 [GRCh38]
Chr2:189860494 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1510-8C>A single nucleotide variant not provided [RCV000589281] Chr2:188995684 [GRCh38]
Chr2:189860410 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3204CCCTGCTGG[3] (p.1069PAG[3]) microsatellite Ehlers-Danlos syndrome, type 4 [RCV002532691]|not specified [RCV000599604] Chr2:189006936..189006937 [GRCh38]
Chr2:189871662..189871663 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.803T>C (p.Phe268Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522987]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178831]|not provided [RCV000589600] Chr2:188991008 [GRCh38]
Chr2:189855734 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634730]|Familial thoracic aortic aneurysm and aortic dissection [RCV004024672]|not specified [RCV000590393] Chr2:188999859 [GRCh38]
Chr2:189864585 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3008T>C (p.Leu1003Pro) single nucleotide variant Aortic aneurysm, familial thoracic 2 [RCV000581426] Chr2:189005426 [GRCh38]
Chr2:189870152 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3163G>A (p.Val1055Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001860117]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189481]|not provided [RCV000589571] Chr2:189006414 [GRCh38]
Chr2:189871140 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001476799]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524472]|not provided [RCV000593829] Chr2:188990354 [GRCh38]
Chr2:189855080 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.584G>T (p.Gly195Val) single nucleotide variant not provided [RCV000585010] Chr2:188988591 [GRCh38]
Chr2:189853317 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001868118]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187545]|not provided [RCV001549742]|not specified [RCV001797764] Chr2:189011646 [GRCh38]
Chr2:189876372 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1198C>T (p.Pro400Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000555113]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772105] Chr2:188994237 [GRCh38]
Chr2:189858963 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu) indel Aortic dissection [RCV000583742] Chr2:188989397..188989398 [GRCh38]
Chr2:189854123..189854124 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4165G>T (p.Ala1389Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000803251]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190254] Chr2:189010801 [GRCh38]
Chr2:189875527 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1673_1722del (p.Gly558fs) deletion not provided [RCV000627477] Chr2:188996406..188996455 [GRCh38]
Chr2:189861132..189861181 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4254+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000794942]|Ehlers-Danlos syndrome, type 4 [RCV003224269]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187661]|not provided [RCV000414364] Chr2:189010893 [GRCh38]
Chr2:189875619 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.827G>T (p.Gly276Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000814824] Chr2:188991032 [GRCh38]
Chr2:189855758 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2399G>A (p.Arg800Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000539826]|not provided [RCV003736806] Chr2:189002305 [GRCh38]
Chr2:189867031 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1235C>T (p.Ala412Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000415680] Chr2:188994274 [GRCh38]
Chr2:189859000 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1716A>C (p.Arg572=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000534659]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181775] Chr2:188996451 [GRCh38]
Chr2:189861177 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.409C>A (p.Pro137Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000537664] Chr2:188985740 [GRCh38]
Chr2:189850466 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000539012]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179628]|not provided [RCV002473049]|not specified [RCV003488667] Chr2:188994544 [GRCh38]
Chr2:189859270 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2848G>A (p.Ala950Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000535507] Chr2:189004281 [GRCh38]
Chr2:189869007 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3345A>G (p.Pro1115=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001506646]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178162]|not provided [RCV000540500] Chr2:189007589 [GRCh38]
Chr2:189872315 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.897+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001379348]|not provided [RCV000412818] Chr2:188991532 [GRCh38]
Chr2:189856258 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1701G>A (p.Gly567=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000558766]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528189]|not specified [RCV000599896] Chr2:188996436 [GRCh38]
Chr2:189861162 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3824-14T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003995923]|not specified [RCV000413885] Chr2:189010164 [GRCh38]
Chr2:189874890 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000509138]|Familial thoracic aortic aneurysm and aortic dissection [RCV002392939]|not provided [RCV000414289] Chr2:188995061 [GRCh38]
Chr2:189859787 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|not provided
NM_000090.4(COL3A1):c.1642G>A (p.Asp548Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000533894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525935] Chr2:188996158 [GRCh38]
Chr2:189860884 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3604G>T (p.Ala1202Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000767941]|Ehlers-Danlos syndrome, type 4 [RCV003224400] Chr2:189009002 [GRCh38]
Chr2:189873728 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2675C>T (p.Pro892Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000531358]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525152] Chr2:189003995 [GRCh38]
Chr2:189868721 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3693C>A (p.Thr1231=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001433144]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776311]|not provided [RCV003431006]|not specified [RCV000420636] Chr2:189009091 [GRCh38]
Chr2:189873817 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-18A>G single nucleotide variant not specified [RCV000423663] Chr2:188995674 [GRCh38]
Chr2:189860400 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1854A>T (p.Gly618=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278655]|Ehlers-Danlos syndrome, type 4 [RCV000863277]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179778]|not provided [RCV001579639] Chr2:188997374 [GRCh38]
Chr2:189862100 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*7C>T single nucleotide variant not specified [RCV000444918] Chr2:189011781 [GRCh38]
Chr2:189876507 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.334-4T>A single nucleotide variant not specified [RCV000427579] Chr2:188985661 [GRCh38]
Chr2:189850387 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001087136]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772005]|not provided [RCV000588294] Chr2:188996133 [GRCh38]
Chr2:189860859 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000868526]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772006]|not provided [RCV001703525]|not specified [RCV000434555] Chr2:189006963 [GRCh38]
Chr2:189871689 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1461C>T (p.Ala487=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522969]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187377]|not provided [RCV000997614]|not specified [RCV000441823] Chr2:188995051 [GRCh38]
Chr2:189859777 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3963T>C (p.Ala1321=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003766393]|not provided [RCV001698196] Chr2:189010317 [GRCh38]
Chr2:189875043 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3984T>C (p.Phe1328=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522975]|not specified [RCV000418254] Chr2:189010338 [GRCh38]
Chr2:189875064 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.447+13C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002521697]|not specified [RCV000442205] Chr2:188985791 [GRCh38]
Chr2:189850517 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2608-2A>C single nucleotide variant not provided [RCV000418042] Chr2:189003732 [GRCh38]
Chr2:189868458 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.528+12T>C single nucleotide variant Connective tissue disorder [RCV000659412]|not specified [RCV000418887] Chr2:188987151 [GRCh38]
Chr2:189851877 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000458481]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769572]|not specified [RCV000424938] Chr2:189002351 [GRCh38]
Chr2:189867077 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.334-13A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004000381]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191579]|not specified [RCV000442678] Chr2:188985652 [GRCh38]
Chr2:189850378 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3630T>G (p.Gly1210=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001462077]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771988]|not provided [RCV001704531] Chr2:189009028 [GRCh38]
Chr2:189873754 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001086462]|Familial thoracic aortic aneurysm and aortic dissection [RCV002348171]|not provided [RCV000513221]|not specified [RCV003323533] Chr2:188988098 [GRCh38]
Chr2:189852824 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.123T>C (p.Asp41=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001476327]|Familial thoracic aortic aneurysm and aortic dissection [RCV000776205]|not specified [RCV000435709] Chr2:188984803 [GRCh38]
Chr2:189849529 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.552C>T (p.Pro184=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001453460]|not specified [RCV000425373] Chr2:188988104 [GRCh38]
Chr2:189852830 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3201+8C>A single nucleotide variant Ehlers-Danlos syndrome [RCV002279189]|not specified [RCV000429013] Chr2:189006460 [GRCh38]
Chr2:189871186 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4038T>C (p.Pro1346=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634725]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187372]|not provided [RCV001721296] Chr2:189010674 [GRCh38]
Chr2:189875400 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000793816]|Familial thoracic aortic aneurysm and aortic dissection [RCV002418270]|not provided [RCV000426073] Chr2:188991016 [GRCh38]
Chr2:189855742 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1484G>C (p.Gly495Ala) single nucleotide variant not provided [RCV000419548] Chr2:188995074 [GRCh38]
Chr2:189859800 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3201+9C>G single nucleotide variant not specified [RCV000429326] Chr2:189006461 [GRCh38]
Chr2:189871187 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2283+19G>A single nucleotide variant not specified [RCV000422388] Chr2:188999914 [GRCh38]
Chr2:189864640 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-17G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002062456]|not specified [RCV000422519] Chr2:189006920 [GRCh38]
Chr2:189871646 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1106G>A (p.Gly369Glu) single nucleotide variant not provided [RCV000432431] Chr2:188993416 [GRCh38]
Chr2:189858142 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2709G>A (p.Gly903=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001425539]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805054]|not provided [RCV000865179] Chr2:189004029 [GRCh38]
Chr2:189868755 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2123G>C (p.Gly708Ala) single nucleotide variant not provided [RCV000434873] Chr2:188999471 [GRCh38]
Chr2:189864197 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.18A>G (p.Gln6=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002521789]|not provided [RCV001721281] Chr2:188974507 [GRCh38]
Chr2:189839233 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2490G>C (p.Pro830=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000532878]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177340]|not provided [RCV001720111] Chr2:189002999 [GRCh38]
Chr2:189867725 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.408C>G (p.Gly136=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002064952]|not specified [RCV000440847] Chr2:188985739 [GRCh38]
Chr2:189850465 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.996+10T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000528002]|not specified [RCV000423483] Chr2:188992238 [GRCh38]
Chr2:189856964 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2337+13A>C single nucleotide variant not specified [RCV000430815] Chr2:189001463 [GRCh38]
Chr2:189866189 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3654G>A (p.Pro1218=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001465262]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187369]|not provided [RCV003437197]|not specified [RCV000437410] Chr2:189009052 [GRCh38]
Chr2:189873778 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3440C>T (p.Pro1147Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001209279]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772009]|not provided [RCV000437527] Chr2:189008057 [GRCh38]
Chr2:189872783 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_000090.4(COL3A1):c.289C>G (p.Arg97Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000458940] Chr2:188985203 [GRCh38]
Chr2:189849929 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.944G>T (p.Gly315Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000470199] Chr2:188991715 [GRCh38]
Chr2:189856441 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2312G>A (p.Gly771Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000474051] Chr2:189001425 [GRCh38]
Chr2:189866151 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000474073]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178593]|not provided [RCV001591062]|not specified [RCV002222508] Chr2:188999310 [GRCh38]
Chr2:189864036 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1820C>T (p.Pro607Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000456434]|Ehlers-Danlos syndrome, type 4 [RCV002489002]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184330]|not provided [RCV001707696] Chr2:188997340 [GRCh38]
Chr2:189862066 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3914C>G (p.Ala1305Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000470567] Chr2:189010268 [GRCh38]
Chr2:189874994 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2989C>T (p.Pro997Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000474165] Chr2:189005407 [GRCh38]
Chr2:189870133 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000474369] Chr2:189010187 [GRCh38]
Chr2:189874913 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3462T>G (p.Ser1154Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000844918]|Ehlers-Danlos syndrome, type 4 [RCV002525970]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180113]|not provided [RCV000483693] Chr2:189008079 [GRCh38]
Chr2:189872805 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.2931+8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001482760] Chr2:189004372 [GRCh38]
Chr2:189869098 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-4del deletion not specified [RCV000483883] Chr2:188984752 [GRCh38]
Chr2:189849478 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.110A>T (p.Gln37Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000459602] Chr2:188984790 [GRCh38]
Chr2:189849516 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4135A>G (p.Met1379Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000463567] Chr2:189010771 [GRCh38]
Chr2:189875497 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001486599]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805083]|not provided [RCV000470882]|not specified [RCV001260392] Chr2:189006957 [GRCh38]
Chr2:189871683 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4346T>C (p.Ile1449Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000472151]|Ehlers-Danlos syndrome, type 4 [RCV002480344]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189981] Chr2:189011719 [GRCh38]
Chr2:189876445 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2274T>C (p.Asp758=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000456226]|Familial thoracic aortic aneurysm and aortic dissection [RCV003168876] Chr2:188999886 [GRCh38]
Chr2:189864612 [GRCh37]
Chr2:2q32.2		 likely benign
NC_000002.11:g.(?_189852807)_(189855783_?)dup duplication Ehlers-Danlos syndrome, type 4 [RCV000467433] Chr2:188988081..188991057 [GRCh38]
Chr2:189852807..189855783 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.81del (p.Val28fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000474877] Chr2:188984761 [GRCh38]
Chr2:189849487 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2337+7C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001462552] Chr2:189001457 [GRCh38]
Chr2:189866183 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) single nucleotide variant COL3A1-related disorder [RCV004539964]|Ehlers-Danlos syndrome, type 4 [RCV001516621]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188147]|not specified [RCV002265773] Chr2:189007580 [GRCh38]
Chr2:189872306 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1196G>C (p.Gly399Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000460412] Chr2:188994235 [GRCh38]
Chr2:189858961 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000464302]|not provided [RCV001662417] Chr2:188996167 [GRCh38]
Chr2:189860893 [GRCh37]
Chr2:2q32.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000090.4(COL3A1):c.316G>A (p.Gly106Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000460511]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805058]|not provided [RCV002255381] Chr2:188985230 [GRCh38]
Chr2:189849956 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1294-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000468152] Chr2:188994540 [GRCh38]
Chr2:189859266 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3098A>T (p.Asp1033Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000475740]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181373] Chr2:189006349 [GRCh38]
Chr2:189871075 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000468050]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184996]|not provided [RCV000481681]|not specified [RCV000780191] Chr2:188984858 [GRCh38]
Chr2:189849584 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3499G>A (p.Gly1167Ser) single nucleotide variant not provided [RCV000484077] Chr2:189008116 [GRCh38]
Chr2:189872842 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2582G>A (p.Gly861Asp) single nucleotide variant not provided [RCV000484229] Chr2:189003439 [GRCh38]
Chr2:189868165 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4295G>T (p.Arg1432Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000475974]|Ehlers-Danlos syndrome, type 4 [RCV002480343]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188122]|not provided [RCV001574625] Chr2:189011668 [GRCh38]
Chr2:189876394 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978-1G>C single nucleotide variant not provided [RCV000484699] Chr2:188998673 [GRCh38]
Chr2:189863399 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.87A>C (p.Glu29Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002558824]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176571] Chr2:188984767 [GRCh38]
Chr2:189849493 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1200C>T (p.Pro400=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001439826]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183905] Chr2:188994239 [GRCh38]
Chr2:189858965 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.745-37_745-20del deletion not specified [RCV000481493] Chr2:188990265..188990282 [GRCh38]
Chr2:189854991..189855008 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000461180] Chr2:189007501 [GRCh38]
Chr2:189872227 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.204C>T (p.Asp68=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000472389]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189982]|not provided [RCV001584173] Chr2:188984884 [GRCh38]
Chr2:189849610 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2446-10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000476297]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188123]|not provided [RCV001508127] Chr2:189002945 [GRCh38]
Chr2:189867671 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1975C>A (p.Pro659Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002481541]|Ehlers-Danlos syndrome, type 4 [RCV004003408]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805104]|not provided [RCV000486076] Chr2:188998317 [GRCh38]
Chr2:189863043 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000468911]|Ehlers-Danlos syndrome, type 4 [RCV002502602]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189975]|not provided [RCV001584127]|not specified [RCV001192745] Chr2:188996429 [GRCh38]
Chr2:189861155 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) single nucleotide variant COL3A1-related disorder [RCV004533207]|Ehlers-Danlos syndrome, type 4 [RCV000461670]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178581]|not provided [RCV001538705] Chr2:189009172 [GRCh38]
Chr2:189873898 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.2839C>T (p.Leu947Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000458033] Chr2:189004272 [GRCh38]
Chr2:189868998 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3926A>G (p.Asn1309Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000465760]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374740] Chr2:189010280 [GRCh38]
Chr2:189875006 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1924-4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000469280]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772079] Chr2:188998262 [GRCh38]
Chr2:189862988 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3044A>G (p.Asn1015Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177920]|not provided [RCV000478002] Chr2:189006210 [GRCh38]
Chr2:189870936 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000600848]|not provided [RCV000486936] Chr2:188994243 [GRCh38]
Chr2:189858969 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2022+6A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000465933]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528173]|not provided [RCV000827200] Chr2:188998724 [GRCh38]
Chr2:189863450 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1617C>A (p.Pro539=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000462398] Chr2:188996133 [GRCh38]
Chr2:189860859 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1222G>A (p.Gly408Arg) single nucleotide variant not provided [RCV000483263] Chr2:188994261 [GRCh38]
Chr2:189858987 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.435T>A (p.Pro145=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001467498] Chr2:188985766 [GRCh38]
Chr2:189850492 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000473742]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772083]|not provided [RCV001775799] Chr2:189007934 [GRCh38]
Chr2:189872660 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000763468]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000758208]|not provided [RCV000497775] Chr2:188997189 [GRCh38]
Chr2:189861915 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2381G>A (p.Arg794His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001041011]|not provided [RCV000497823] Chr2:189001579 [GRCh38]
Chr2:189866305 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2558_2559insATTAGGTGTCAAAGGTGAACGTGGCAG (p.Pro853_Pro854insLeuGlyValLysGlyGluArgGlySer) insertion Ehlers-Danlos syndrome, type 4 [RCV000496991] Chr2:189003415..189003416 [GRCh38]
Chr2:189868141..189868142 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.175T>G (p.Ser59Ala) single nucleotide variant not specified [RCV000499758] Chr2:188984855 [GRCh38]
Chr2:189849581 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG deletion Ehlers-Danlos syndrome, type 4 [RCV003633511]|not provided [RCV000498243] Chr2:189007497..189007506 [GRCh38]
Chr2:189872223..189872232 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1459G>T (p.Ala487Ser) single nucleotide variant not specified [RCV000508227] Chr2:188995049 [GRCh38]
Chr2:189859775 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.877A>G (p.Asn293Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634708]|not provided [RCV000493441] Chr2:188991511 [GRCh38]
Chr2:189856237 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4184C>T (p.Ser1395Leu) single nucleotide variant not provided [RCV000494193] Chr2:189010820 [GRCh38]
Chr2:189875546 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2862A>T (p.Gly954=) single nucleotide variant COL3A1-related disorder [RCV004541581]|Ehlers-Danlos syndrome, type 4 [RCV003522984]|not specified [RCV000506022] Chr2:189004295 [GRCh38]
Chr2:189869021 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4357G>A (p.Asp1453Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000509367]|Ehlers-Danlos syndrome, type 4 [RCV002475974]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188961]|not provided [RCV000494257] Chr2:189011730 [GRCh38]
Chr2:189876456 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.3069C>A (p.Gly1023=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002524913]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178176]|not specified [RCV000506433] Chr2:189006235 [GRCh38]
Chr2:189870961 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000530078]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176833]|not provided [RCV001508129]|not specified [RCV000507021] Chr2:189009005 [GRCh38]
Chr2:189873731 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.13G>A (p.Val5Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000702640]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170883]|not provided [RCV003322779]|not specified [RCV000507209] Chr2:188974502 [GRCh38]
Chr2:189839228 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.282+1G>C single nucleotide variant not provided [RCV000492927] Chr2:188984963 [GRCh38]
Chr2:189849689 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314849]|not provided [RCV000492987] Chr2:188999569 [GRCh38]
Chr2:189864295 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3363+21G>C single nucleotide variant not specified [RCV000507929] Chr2:189007628 [GRCh38]
Chr2:189872354 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000624461] Chr2:189011640 [GRCh38]
Chr2:189876366 [GRCh37]
Chr2:2q32.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000090.4(COL3A1):c.3525+3A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136857]|not provided [RCV000522995] Chr2:189008145 [GRCh38]
Chr2:189872871 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000602743] Chr2:188994066 [GRCh38]
Chr2:189858792 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3040-18T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522991]|not specified [RCV000607003] Chr2:189006188 [GRCh38]
Chr2:189870914 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2823+20dup duplication not specified [RCV000603393] Chr2:189004156..189004157 [GRCh38]
Chr2:189868882..189868883 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1149+15T>C single nucleotide variant not specified [RCV000607286] Chr2:188993474 [GRCh38]
Chr2:189858200 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+10G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634736] Chr2:188988144 [GRCh38]
Chr2:189852870 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2436T>C (p.Pro812=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002064018]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524892]|not specified [RCV000604205] Chr2:189002342 [GRCh38]
Chr2:189867068 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4332T>C (p.Ile1444=) single nucleotide variant COL3A1-related disorder [RCV004544825]|Ehlers-Danlos syndrome, type 4 [RCV000634739] Chr2:189011705 [GRCh38]
Chr2:189876431 [GRCh37]
Chr2:2q32.2		 likely benign
NC_000002.12:g.(?_188974470)_(189580480_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV000634741] Chr2:188974470..189580480 [GRCh38]
Chr2:189839196..190445206 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) single nucleotide variant Ehlers-Danlos syndrome [RCV002279457]|Ehlers-Danlos syndrome, type 4 [RCV000634707] Chr2:188990126 [GRCh38]
Chr2:189854852 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.272C>T (p.Pro91Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634705]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187570]|not provided [RCV001843535] Chr2:188984952 [GRCh38]
Chr2:189849678 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1977+5G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634704] Chr2:188998324 [GRCh38]
Chr2:189863050 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2107C>T (p.Pro703Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634703]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525096] Chr2:188999369 [GRCh38]
Chr2:189864095 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1129G>A (p.Ala377Thr) single nucleotide variant COL3A1-related disorder [RCV004527696]|Ehlers-Danlos syndrome, type 4 [RCV000634720]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175699] Chr2:188993439 [GRCh38]
Chr2:189858165 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3566C>T (p.Pro1189Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634719]|Ehlers-Danlos syndrome, type 4 [RCV002492965]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525098] Chr2:189008964 [GRCh38]
Chr2:189873690 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3208G>T (p.Ala1070Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634717]|Ehlers-Danlos syndrome, type 4 [RCV002483794]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528216] Chr2:189006943 [GRCh38]
Chr2:189871669 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634713]|Familial thoracic aortic aneurysm and aortic dissection [RCV002448961] Chr2:189006206 [GRCh38]
Chr2:189870932 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1524G>A (p.Glu508=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001484680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170892]|not provided [RCV001712620] Chr2:188995706 [GRCh38]
Chr2:189860432 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2913T>A (p.Pro971=) single nucleotide variant not provided [RCV000594669] Chr2:189004346 [GRCh38]
Chr2:189869072 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1816-6T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633524]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528206]|not specified [RCV000605468] Chr2:188997330 [GRCh38]
Chr2:189862056 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000588154]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315882] Chr2:188997165 [GRCh38]
Chr2:189861891 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.4071T>G (p.Leu1357=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002125555] Chr2:189010707 [GRCh38]
Chr2:189875433 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2724G>A (p.Ala908=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000558512]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176129] Chr2:189004044 [GRCh38]
Chr2:189868770 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001860392]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170885] Chr2:188990117 [GRCh38]
Chr2:189854843 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1977+8dup duplication not specified [RCV000600575] Chr2:188998326..188998327 [GRCh38]
Chr2:189863052..189863053 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1496T>C (p.Ile499Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000556814]|Ehlers-Danlos syndrome, type 4 [RCV002506307]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176124] Chr2:188995086 [GRCh38]
Chr2:189859812 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.873C>A (p.Gly291=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000534967]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178159] Chr2:188991507 [GRCh38]
Chr2:189856233 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1509+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000608512]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179402] Chr2:188995101 [GRCh38]
Chr2:189859827 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.745-7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002062989]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525235]|not specified [RCV000607135] Chr2:188990300 [GRCh38]
Chr2:189855026 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.2773G>A (p.Asp925Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001212769]|Ehlers-Danlos syndrome, type 4 [RCV002483726]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314211]|not provided [RCV003153762] Chr2:189004093 [GRCh38]
Chr2:189868819 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2069G>A (p.Gly690Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314218] Chr2:188999331 [GRCh38]
Chr2:189864057 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4340A>G (p.Tyr1447Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001037289]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314212] Chr2:189011713 [GRCh38]
Chr2:189876439 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2241C>T (p.Gly747=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000555911]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525575] Chr2:188999853 [GRCh38]
Chr2:189864579 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3581G>A (p.Gly1194Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000556139] Chr2:189008979 [GRCh38]
Chr2:189873705 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=) single nucleotide variant COL3A1-related disorder [RCV004544809]|Ehlers-Danlos syndrome, type 4 [RCV001080398]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771286]|not provided [RCV000826942] Chr2:189001553 [GRCh38]
Chr2:189866279 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3256-18C>G single nucleotide variant not specified [RCV000615657] Chr2:189007482 [GRCh38]
Chr2:189872208 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2733T>C (p.Thr911=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000536982]|Familial thoracic aortic aneurysm and aortic dissection [RCV003302801] Chr2:189004053 [GRCh38]
Chr2:189868779 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4075C>A (p.Leu1359Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000559500]|Familial thoracic aortic aneurysm and aortic dissection [RCV003485600] Chr2:189010711 [GRCh38]
Chr2:189875437 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4394T>G (p.Phe1465Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314224] Chr2:189011767 [GRCh38]
Chr2:189876493 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3217G>A (p.Ala1073Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314220] Chr2:189006952 [GRCh38]
Chr2:189871678 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.667C>G (p.Pro223Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001229407]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314222] Chr2:188989426 [GRCh38]
Chr2:189854152 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4011+8A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002531172]|not specified [RCV000607095] Chr2:189010373 [GRCh38]
Chr2:189875099 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.4378G>A (p.Val1460Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002531814]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185758]|not provided [RCV003328608] Chr2:189011751 [GRCh38]
Chr2:189876477 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.690+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002529374]|not specified [RCV000615495] Chr2:188989452 [GRCh38]
Chr2:189854178 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4215T>C (p.Asn1405=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182932] Chr2:189010851 [GRCh38]
Chr2:189875577 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1431G>A (p.Gly477=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002529402]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186532]|not specified [RCV000612917] Chr2:188994807 [GRCh38]
Chr2:189859533 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4266G>A (p.Gly1422=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002066952]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524543] Chr2:189011639 [GRCh38]
Chr2:189876365 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3937A>G (p.Lys1313Glu) single nucleotide variant COL3A1-related disorder [RCV004527684]|Ehlers-Danlos syndrome, type 4 [RCV001860393]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190200]|not provided [RCV002223885] Chr2:189010291 [GRCh38]
Chr2:189875017 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002314215] Chr2:189010320..189010326 [GRCh38]
Chr2:189875046..189875052 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3093+16G>A single nucleotide variant not specified [RCV000610262] Chr2:189006275 [GRCh38]
Chr2:189871001 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4281A>T (p.Thr1427=) single nucleotide variant not specified [RCV000610354] Chr2:189011654 [GRCh38]
Chr2:189876380 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2931+20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002531177]|not specified [RCV000610383] Chr2:189004384 [GRCh38]
Chr2:189869110 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1923+13T>A single nucleotide variant not specified [RCV000607495] Chr2:188997766 [GRCh38]
Chr2:189862492 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2607+10G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001502784]|not specified [RCV000616504] Chr2:189003474 [GRCh38]
Chr2:189868200 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.2824-5A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002532783]|not specified [RCV000613365] Chr2:189004252 [GRCh38]
Chr2:189868978 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001079963]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176304]|not provided [RCV000863303]|not specified [RCV004525981] Chr2:188998691 [GRCh38]
Chr2:189863417 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.3066A>G (p.Pro1022=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000534096]|Ehlers-Danlos syndrome, type 4 [RCV003224321]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186891] Chr2:189006232 [GRCh38]
Chr2:189870958 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2043T>C (p.Gly681=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002063075]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771440]|not specified [RCV000616784] Chr2:188999305 [GRCh38]
Chr2:189864031 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001295340]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189446]|not provided [RCV000586552] Chr2:188997384 [GRCh38]
Chr2:189862110 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.3(COL3A1):c.1871G>T (p.Gly624Val) single nucleotide variant not specified [RCV000622877] Chr2:188997701 [GRCh38]
Chr2:189862427 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1050+6C>T single nucleotide variant Ehlers-Danlos syndrome [RCV002279343]|Ehlers-Danlos syndrome, type 4 [RCV000539446]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771854] Chr2:188992946 [GRCh38]
Chr2:189857672 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3505A>C (p.Arg1169=) single nucleotide variant Ehlers-Danlos syndrome [RCV002279413]|Ehlers-Danlos syndrome, type 4 [RCV002529689]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176352]|not specified [RCV000614499] Chr2:189008122 [GRCh38]
Chr2:189872848 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3525+17A>G single nucleotide variant not specified [RCV000614605] Chr2:189008159 [GRCh38]
Chr2:189872885 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.608del (p.Pro203fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000536397] Chr2:188988611 [GRCh38]
Chr2:189853337 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1194+9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001440337] Chr2:188994091 [GRCh38]
Chr2:189858817 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1173del (p.Pro392fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000616357] Chr2:188994061 [GRCh38]
Chr2:189858787 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3793C>A (p.Leu1265Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001346564]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314221]|not provided [RCV001591386] Chr2:189009191 [GRCh38]
Chr2:189873917 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634709]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180581]|not provided [RCV001570822]|not specified [RCV001251398] Chr2:188984906 [GRCh38]
Chr2:189849632 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2392-2A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314214] Chr2:189002296 [GRCh38]
Chr2:189867022 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1987G>A (p.Gly663Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523003]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314213] Chr2:188998683 [GRCh38]
Chr2:189863409 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2355C>T (p.Pro785=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001399625]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179322] Chr2:189001553 [GRCh38]
Chr2:189866279 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3776C>T (p.Ala1259Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001400597]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186318]|not specified [RCV000604562] Chr2:189009174 [GRCh38]
Chr2:189873900 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1585G>A (p.Val529Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000690897]|Ehlers-Danlos syndrome, type 4 [RCV002483727]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179324]|not provided [RCV001788301] Chr2:188995767 [GRCh38]
Chr2:189860493 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1303G>T (p.Gly435Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314217] Chr2:188994550 [GRCh38]
Chr2:189859276 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.290G>A (p.Arg97His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634710]|Ehlers-Danlos syndrome, type 4 [RCV002483793]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179804] Chr2:188985204 [GRCh38]
Chr2:189849930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634711] Chr2:188992185 [GRCh38]
Chr2:189856911 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.4327G>A (p.Asp1443Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634712] Chr2:189011700 [GRCh38]
Chr2:189876426 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1584C>T (p.Gly528=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634731]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175698] Chr2:188995766 [GRCh38]
Chr2:189860492 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2199T>C (p.Gly733=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634732] Chr2:188999547 [GRCh38]
Chr2:189864273 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3375T>C (p.Gly1125=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634733]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185556] Chr2:189007896 [GRCh38]
Chr2:189872622 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-8C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634734]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190672]|not provided [RCV001570688] Chr2:189007877 [GRCh38]
Chr2:189872603 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1509+7_1509+21del deletion Ehlers-Danlos syndrome, type 4 [RCV000634737]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179073]|not specified [RCV000781314] Chr2:188995104..188995118 [GRCh38]
Chr2:189859830..189859844 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.799-6del deletion Ehlers-Danlos syndrome [RCV002279459]|Ehlers-Danlos syndrome, type 4 [RCV000634738]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773230]|not provided [RCV001653962] Chr2:188990996 [GRCh38]
Chr2:189855722 [GRCh37]
Chr2:2q32.2		 benign|likely benign|uncertain significance
NM_000090.4(COL3A1):c.621G>A (p.Gly207=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634729]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175624] Chr2:188988628 [GRCh38]
Chr2:189853354 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2238A>G (p.Pro746=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634728] Chr2:188999850 [GRCh38]
Chr2:189864576 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1980T>C (p.Gly660=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634726] Chr2:188998676 [GRCh38]
Chr2:189863402 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.91G>C (p.Gly31Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634724]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525097] Chr2:188984771 [GRCh38]
Chr2:189849497 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.898-14A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634723]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179805]|not provided [RCV000837955] Chr2:188991655 [GRCh38]
Chr2:189856381 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2264C>A (p.Pro755Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634722]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV002286767] Chr2:188999876 [GRCh38]
Chr2:189864602 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3629G>A (p.Gly1210Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002279458]|Ehlers-Danlos syndrome, type 4 [RCV000634721] Chr2:189009027 [GRCh38]
Chr2:189873753 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2828del (p.Ala943fs) deletion Ehlers-Danlos syndrome, type 4 [RCV000634718] Chr2:189004261 [GRCh38]
Chr2:189868987 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1708G>A (p.Gly570Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634716] Chr2:188996443 [GRCh38]
Chr2:189861169 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4319C>T (p.Pro1440Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634715] Chr2:189011692 [GRCh38]
Chr2:189876418 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2109C>T (p.Pro703=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000634740]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179806]|not provided [RCV001584462] Chr2:188999371 [GRCh38]
Chr2:189864097 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3049G>A (p.Gly1017Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001378488]|not provided [RCV000513564] Chr2:189006215 [GRCh38]
Chr2:189870941 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1886A>G (p.Lys629Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659420] Chr2:188997716 [GRCh38]
Chr2:189862442 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659432] Chr2:189008925 [GRCh38]
Chr2:189873651 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1609-17T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659416] Chr2:188996108 [GRCh38]
Chr2:189860834 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3201+10C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000659429] Chr2:189006462 [GRCh38]
Chr2:189871188 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1924-8_1924-3del deletion not provided [RCV000658218] Chr2:188998257..188998262 [GRCh38]
Chr2:189862983..189862988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1758T>C (p.Asn586=) single nucleotide variant COL3A1-related disorder [RCV004533442]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189449]|not provided [RCV000658894] Chr2:188996493 [GRCh38]
Chr2:189861219 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000699917]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528219] Chr2:188996419 [GRCh38]
Chr2:189861145 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4012-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000700460] Chr2:189010646 [GRCh38]
Chr2:189875372 [GRCh37]
Chr2:2q32.2		 likely pathogenic
GRCh37/hg19 2q32.1-32.2(chr2:189322984-189910304)x3 copy number gain not provided [RCV000682090] Chr2:189322984..189910304 [GRCh37]
Chr2:2q32.1-32.2		 uncertain significance
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) single nucleotide variant Congenital aneurysm of ascending aorta [RCV000664467]|Ehlers-Danlos syndrome, type 4 [RCV001377183] Chr2:188997727 [GRCh38]
Chr2:189862453 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|risk factor
NM_000090.4(COL3A1):c.1815+16C>T single nucleotide variant Connective tissue disorder [RCV000680500] Chr2:188997234 [GRCh38]
Chr2:189861960 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1612A>G (p.Met538Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804436] Chr2:188996128 [GRCh38]
Chr2:189860854 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4134C>T (p.Tyr1378=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804570] Chr2:189010770 [GRCh38]
Chr2:189875496 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000680211]|not provided [RCV001771925] Chr2:188994727 [GRCh38]
Chr2:189859453 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2283+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000702928] Chr2:188999896 [GRCh38]
Chr2:189864622 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.464A>G (p.Tyr155Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000699929]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524294] Chr2:188987075 [GRCh38]
Chr2:189851801 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000686415] Chr2:189003426 [GRCh38]
Chr2:189868152 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2074C>A (p.Pro692Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000704382] Chr2:188999336 [GRCh38]
Chr2:189864062 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202G>T (p.Gly1068Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000693892] Chr2:189006937 [GRCh38]
Chr2:189871663 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1804C>G (p.Pro602Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000688885] Chr2:188997207 [GRCh38]
Chr2:189861933 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3094-10_3094delinsGT indel Ehlers-Danlos syndrome, type 4 [RCV000703223] Chr2:189006335..189006345 [GRCh38]
Chr2:189871061..189871071 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.546C>A (p.Pro182=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000705841]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805824] Chr2:188988098 [GRCh38]
Chr2:189852824 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3796A>C (p.Lys1266Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000689285]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772997] Chr2:189009194 [GRCh38]
Chr2:189873920 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2156C>G (p.Ala719Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000685976] Chr2:188999504 [GRCh38]
Chr2:189864230 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1594G>A (p.Gly532Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000692470]|Ehlers-Danlos syndrome, type 4 [RCV002493180] Chr2:188995776 [GRCh38]
Chr2:189860502 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000697608] Chr2:188984814 [GRCh38]
Chr2:189849540 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1761+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000695406]|Ehlers-Danlos syndrome, type 4 [RCV002499245]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187143]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV003147533]|not provided [RCV001756203] Chr2:188996502 [GRCh38]
Chr2:189861228 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4301G>A (p.Arg1434His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000693580]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179593]|not provided [RCV003235354] Chr2:189011674 [GRCh38]
Chr2:189876400 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000695723]|not provided [RCV000755957] Chr2:189006363 [GRCh38]
Chr2:189871089 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2819C>A (p.Pro940Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000702896]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805817]|not provided [RCV001311569] Chr2:189004139 [GRCh38]
Chr2:189868865 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189839196)_(189839314_?)dup duplication Ehlers-Danlos syndrome, type 4 [RCV000707914] Chr2:188974470..188974588 [GRCh38]
Chr2:189839196..189839314 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1201G>A (p.Ala401Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000703207]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524996] Chr2:188994240 [GRCh38]
Chr2:189858966 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000705647] Chr2:188995092 [GRCh38]
Chr2:189859818 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3100C>T (p.Arg1034Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000705896] Chr2:189006351 [GRCh38]
Chr2:189871077 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2392-3_2395del deletion Ehlers-Danlos syndrome, type 4 [RCV000703526] Chr2:189002295..189002301 [GRCh38]
Chr2:189867021..189867027 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.80-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000697120] Chr2:188984759 [GRCh38]
Chr2:189849485 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4011+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000697146] Chr2:189010366 [GRCh38]
Chr2:189875092 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3808C>A (p.Pro1270Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000703727]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524998]|not provided [RCV001759406] Chr2:189009206 [GRCh38]
Chr2:189873932 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2446-235C>T single nucleotide variant not provided [RCV001567000] Chr2:189002720 [GRCh38]
Chr2:189867446 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1057G>A (p.Val353Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008927]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806238]|not provided [RCV001548065] Chr2:188993367 [GRCh38]
Chr2:189858093 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.242T>C (p.Phe81Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000814735]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528235] Chr2:188984922 [GRCh38]
Chr2:189849648 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000816008] Chr2:188991031 [GRCh38]
Chr2:189855757 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3143A>G (p.His1048Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008951]|not provided [RCV001582289] Chr2:189006394 [GRCh38]
Chr2:189871120 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.1-32.2(chr2:189341775-189985937)x3 copy number gain not provided [RCV000740787] Chr2:189341775..189985937 [GRCh37]
Chr2:2q32.1-32.2		 benign
GRCh37/hg19 2q32.1-32.2(chr2:189342602-190024521)x3 copy number gain not provided [RCV000740788] Chr2:189342602..190024521 [GRCh37]
Chr2:2q32.1-32.2		 benign
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q32.2(chr2:189750863-189874460)x3 copy number gain not provided [RCV000740790] Chr2:189750863..189874460 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189750863-189984869)x3 copy number gain not provided [RCV000740791] Chr2:189750863..189984869 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189750863-190023331)x3 copy number gain not provided [RCV000740792] Chr2:189750863..190023331 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189750863-190024521)x3 copy number gain not provided [RCV000740793] Chr2:189750863..190024521 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189750863-190029306)x3 copy number gain not provided [RCV000740794] Chr2:189750863..190029306 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189757531-189987069)x3 copy number gain not provided [RCV000740795] Chr2:189757531..189987069 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189757531-190024521)x3 copy number gain not provided [RCV000740796] Chr2:189757531..190024521 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189784930-190029306)x3 copy number gain not provided [RCV000740797] Chr2:189784930..190029306 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189796272-189986523)x3 copy number gain not provided [RCV000740798] Chr2:189796272..189986523 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189796272-189987069)x3 copy number gain not provided [RCV000740799] Chr2:189796272..189987069 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189796272-190031055)x3 copy number gain not provided [RCV000740800] Chr2:189796272..190031055 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189821391-189856086)x3 copy number gain not provided [RCV000740801] Chr2:189821391..189856086 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189821391-189861158)x3 copy number gain not provided [RCV000740802] Chr2:189821391..189861158 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189821391-190024521)x3 copy number gain not provided [RCV000740803] Chr2:189821391..190024521 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189829688-189856471)x3 copy number gain not provided [RCV000740804] Chr2:189829688..189856471 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189829688-189856671)x3 copy number gain not provided [RCV000740805] Chr2:189829688..189856671 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189829688-189856846)x3 copy number gain not provided [RCV000740806] Chr2:189829688..189856846 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189830091-190174516)x3 copy number gain not provided [RCV000740807] Chr2:189830091..190174516 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189839498-189856086)x3 copy number gain not provided [RCV000740808] Chr2:189839498..189856086 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189839498-189856471)x4 copy number gain not provided [RCV000740809] Chr2:189839498..189856471 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189839498-189857709)x3 copy number gain not provided [RCV000740810] Chr2:189839498..189857709 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189841738-189856086)x4 copy number gain not provided [RCV000740811] Chr2:189841738..189856086 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189841738-189862890)x3 copy number gain not provided [RCV000740812] Chr2:189841738..189862890 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189841753-189857709)x1 copy number loss not provided [RCV000740813] Chr2:189841753..189857709 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189841916-189857336)x3 copy number gain not provided [RCV000740814] Chr2:189841916..189857336 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189853414-189856086)x4 copy number gain not provided [RCV000740815] Chr2:189853414..189856086 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189856471-190023331)x3 copy number gain not provided [RCV000740816] Chr2:189856471..190023331 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.2(chr2:189856471-190024521)x3 copy number gain not provided [RCV000740817] Chr2:189856471..190024521 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[5] microsatellite not provided [RCV001608807] Chr2:188997015..188997029 [GRCh38]
Chr2:189861741..189861755 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3213C>A (p.Gly1071=) single nucleotide variant not provided [RCV001532433] Chr2:189006948 [GRCh38]
Chr2:189871674 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3363+30C>T single nucleotide variant not provided [RCV001583138] Chr2:189007637 [GRCh38]
Chr2:189872363 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3102T>C (p.Arg1034=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001434539]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805930] Chr2:189006353 [GRCh38]
Chr2:189871079 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4323_4326del (p.Ile1441fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001542732] Chr2:189011696..189011699 [GRCh38]
Chr2:189876422..189876425 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.80-152_80-130dup duplication not provided [RCV001585166] Chr2:188984605..188984606 [GRCh38]
Chr2:189849331..189849332 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2284-293A>G single nucleotide variant not provided [RCV001547669] Chr2:189001104 [GRCh38]
Chr2:189865830 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.622C>T (p.Gln208Ter) single nucleotide variant not provided [RCV000760926] Chr2:188988629 [GRCh38]
Chr2:189853355 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4358A>T (p.Asp1453Val) single nucleotide variant not provided [RCV000762304] Chr2:189011731 [GRCh38]
Chr2:189876457 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs) microsatellite Ehlers-Danlos syndrome, type 4 [RCV000993799] Chr2:188997740..188997741 [GRCh38]
Chr2:189862466..189862467 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3255+107AT[20] microsatellite not provided [RCV001646029] Chr2:189007097..189007100 [GRCh38]
Chr2:189871823..189871826 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2102del (p.Pro701fs) deletion not provided [RCV000755956] Chr2:188999360 [GRCh38]
Chr2:189864086 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1977+166T>C single nucleotide variant not provided [RCV001585470] Chr2:188998485 [GRCh38]
Chr2:189863211 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.347T>G (p.Ile116Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001059153]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180915]|not provided [RCV002473183] Chr2:188985678 [GRCh38]
Chr2:189850404 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1149+28G>A single nucleotide variant not provided [RCV001575051] Chr2:188993487 [GRCh38]
Chr2:189858213 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001058086] Chr2:189005350 [GRCh38]
Chr2:189870076 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3714C>G (p.Leu1238=) single nucleotide variant not provided [RCV000997620] Chr2:189009112 [GRCh38]
Chr2:189873838 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3809C>G (p.Pro1270Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001139093]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187584]|not provided [RCV000997621] Chr2:189009207 [GRCh38]
Chr2:189873933 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.928C>T (p.Arg310Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001882718]|not provided [RCV001583673] Chr2:188991699 [GRCh38]
Chr2:189856425 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000986953] Chr2:188990129 [GRCh38]
Chr2:189854855 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.945G>A (p.Gly315=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001490883]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181240] Chr2:188991716 [GRCh38]
Chr2:189856442 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-8T>C single nucleotide variant COL3A1-related disorder [RCV004533580]|Ehlers-Danlos syndrome, type 4 [RCV000929431]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183325] Chr2:188984752 [GRCh38]
Chr2:189849478 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.708C>T (p.Pro236=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001422815]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805915] Chr2:188990113 [GRCh38]
Chr2:189854839 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2608-10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000973864]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186024] Chr2:189003724 [GRCh38]
Chr2:189868450 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1816-4T>C single nucleotide variant COL3A1-related disorder [RCV004538243]|Ehlers-Danlos syndrome [RCV002279575]|Ehlers-Danlos syndrome, type 4 [RCV000866672]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185341]|not provided [RCV001585822]|not specified [RCV003235422] Chr2:188997332 [GRCh38]
Chr2:189862058 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3363+9A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001409529] Chr2:189007616 [GRCh38]
Chr2:189872342 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3126C>T (p.Ala1042=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001453871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002320196] Chr2:189006377 [GRCh38]
Chr2:189871103 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2265A>G (p.Pro755=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001439378] Chr2:188999877 [GRCh38]
Chr2:189864603 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2096G>T (p.Gly699Val) single nucleotide variant not provided [RCV000755955] Chr2:188999358 [GRCh38]
Chr2:189864084 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1581T>C (p.Asp527=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523022]|not provided [RCV000755959] Chr2:188995763 [GRCh38]
Chr2:189860489 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001491323]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805912] Chr2:188994533 [GRCh38]
Chr2:189859259 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001481020]|not provided [RCV003736949] Chr2:188989458 [GRCh38]
Chr2:189854184 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.669A>T (p.Pro223=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001393572]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525127] Chr2:188989428 [GRCh38]
Chr2:189854154 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2358A>G (p.Gly786=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001438458] Chr2:189001556 [GRCh38]
Chr2:189866282 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1707T>C (p.Ser569=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001490878]|Familial thoracic aortic aneurysm and aortic dissection [RCV002399902] Chr2:188996442 [GRCh38]
Chr2:189861168 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2500G>A (p.Gly834Ser) single nucleotide variant not provided [RCV002280564] Chr2:189003009 [GRCh38]
Chr2:189867735 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1999G>T (p.Ala667Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001044070] Chr2:188998695 [GRCh38]
Chr2:189863421 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2690G>A (p.Gly897Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001050451] Chr2:189004010 [GRCh38]
Chr2:189868736 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1763G>T (p.Gly588Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001050761]|not provided [RCV002267069] Chr2:188997166 [GRCh38]
Chr2:189861892 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1978G>A (p.Gly660Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001067197] Chr2:188998674 [GRCh38]
Chr2:189863400 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.636+5_636+8del microsatellite not provided [RCV001810630] Chr2:188988643..188988646 [GRCh38]
Chr2:189853369..189853372 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.12:g.(?_188974480)_(189580648_?)del deletion Ehlers-Danlos syndrome, classic type [RCV001386250]|Ehlers-Danlos syndrome, type 4 [RCV001031462] Chr2:189839206..190445374 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1480G>A (p.Ala494Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001038875]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181186]|not provided [RCV001547709] Chr2:188995070 [GRCh38]
Chr2:189859796 [GRCh37]
Chr2:2q32.2		 uncertain significance
COL3A1, GLY1284GLU variation POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME [RCV000758209] Chr2:2q32.2 pathogenic
COL3A1, ARG596TER variation POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME [RCV000758208] Chr2:2q32.2 pathogenic
NM_000090.4(COL3A1):c.2678C>T (p.Pro893Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001045759]|Ehlers-Danlos syndrome, type 4 [RCV002479281]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524510]|not provided [RCV002464360] Chr2:189003998 [GRCh38]
Chr2:189868724 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2248G>C (p.Gly750Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001046767]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179183] Chr2:188999860 [GRCh38]
Chr2:189864586 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.334-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001063053] Chr2:188985663 [GRCh38]
Chr2:189850389 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1295G>A (p.Gly432Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001070841]|Familial thoracic aortic aneurysm and aortic dissection [RCV002379628] Chr2:188994542 [GRCh38]
Chr2:189859268 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.448-6C>A single nucleotide variant not specified [RCV000780194] Chr2:188987053 [GRCh38]
Chr2:189851779 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001300834]|Ehlers-Danlos syndrome, type 4 [RCV003483719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188239]|not provided [RCV001585708]|not specified [RCV000780196] Chr2:188999300 [GRCh38]
Chr2:189864026 [GRCh37]
Chr2:2q32.2		 uncertain significance|not provided
NM_000090.4(COL3A1):c.120G>A (p.Ala40=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000983887]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772988]|not provided [RCV001569503] Chr2:188984800 [GRCh38]
Chr2:189849526 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2824-7G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000773011] Chr2:189004250 [GRCh38]
Chr2:189868976 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.853-4C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000773021] Chr2:188991483 [GRCh38]
Chr2:189856209 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.86_88del (p.Glu29del) deletion Ehlers-Danlos syndrome, type 4 [RCV002477758]|Ehlers-Danlos syndrome, type 4 [RCV003633544]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773411]|not provided [RCV001570812] Chr2:188984765..188984767 [GRCh38]
Chr2:189849491..189849493 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.290G>T (p.Arg97Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001059583]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773329] Chr2:188985204 [GRCh38]
Chr2:189849930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3040-12T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523025]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773354]|not provided [RCV001560682] Chr2:189006194 [GRCh38]
Chr2:189870920 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1094C>G (p.Pro365Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001856046]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773355] Chr2:188993404 [GRCh38]
Chr2:189858130 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2568C>T (p.Pro856=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000773397] Chr2:189003425 [GRCh38]
Chr2:189868151 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.713G>A (p.Arg238Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001869096]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773424]|not provided [RCV001766605] Chr2:188990118 [GRCh38]
Chr2:189854844 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3035G>A (p.Arg1012Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000773586] Chr2:189005453 [GRCh38]
Chr2:189870179 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3418-12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002534088]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773684]|not provided [RCV001560535] Chr2:189008023 [GRCh38]
Chr2:189872749 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val) single nucleotide variant Familial aortopathy [RCV000781311] Chr2:188993416 [GRCh38]
Chr2:189858142 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4224C>T (p.Phe1408=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002061080]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773837] Chr2:189010860 [GRCh38]
Chr2:189875586 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1777A>G (p.Asn593Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003330092]|Familial thoracic aortic aneurysm and aortic dissection [RCV000773861] Chr2:188997180 [GRCh38]
Chr2:189861906 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000766237]|not provided [RCV003238201] Chr2:188990335 [GRCh38]
Chr2:189855061 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3312C>T (p.Gly1104=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000767940]|Ehlers-Danlos syndrome, type 4 [RCV003224399] Chr2:189007556 [GRCh38]
Chr2:189872282 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1870-13_1870-11del deletion Ehlers-Danlos syndrome, type 4 [RCV003523026]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774050] Chr2:188997685..188997687 [GRCh38]
Chr2:189862411..189862413 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1531G>A (p.Ala511Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002536674]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774107]|not provided [RCV003106052] Chr2:188995713 [GRCh38]
Chr2:189860439 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2530C>G (p.Pro844Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002534116]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774109] Chr2:189003039 [GRCh38]
Chr2:189867765 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.902C>T (p.Pro301Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774187] Chr2:188991673 [GRCh38]
Chr2:189856399 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3092A>C (p.Lys1031Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774194] Chr2:189006258 [GRCh38]
Chr2:189870984 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1050+7_1050+8del deletion Ehlers-Danlos syndrome, type 4 [RCV002061088]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774263]|not specified [RCV002222633] Chr2:188992947..188992948 [GRCh38]
Chr2:189857673..189857674 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4220A>C (p.Lys1407Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002534129]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774279] Chr2:189010856 [GRCh38]
Chr2:189875582 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.320C>G (p.Pro107Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774316] Chr2:188985234 [GRCh38]
Chr2:189849960 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2277C>T (p.Gly759=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001435355]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774340] Chr2:188999889 [GRCh38]
Chr2:189864615 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2723C>G (p.Ala908Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774341] Chr2:189004043 [GRCh38]
Chr2:189868769 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3764G>A (p.Arg1255His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001305235]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774351]|not provided [RCV002462127] Chr2:189009162 [GRCh38]
Chr2:189873888 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3757G>A (p.Gly1253Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002279524]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770604] Chr2:189009155 [GRCh38]
Chr2:189873881 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4229A>C (p.Tyr1410Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770606] Chr2:189010865 [GRCh38]
Chr2:189875591 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1787G>A (p.Arg596Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001063157]|Familial thoracic aortic aneurysm and aortic dissection [RCV000772938]|not provided [RCV000997615] Chr2:188997190 [GRCh38]
Chr2:189861916 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3411C>T (p.Gly1137=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068510]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774176] Chr2:189007932 [GRCh38]
Chr2:189872658 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2917C>T (p.Pro973Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000772519] Chr2:189004350 [GRCh38]
Chr2:189869076 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.528+250T>A single nucleotide variant not provided [RCV000827688] Chr2:188987389 [GRCh38]
Chr2:189852115 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2823+5G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774421] Chr2:189004148 [GRCh38]
Chr2:189868874 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3816C>T (p.Leu1272=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001856087]|Familial thoracic aortic aneurysm and aortic dissection [RCV000774459] Chr2:189009214 [GRCh38]
Chr2:189873940 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-13T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002067225]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771500]|not provided [RCV001637984] Chr2:188994711 [GRCh38]
Chr2:189859437 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.1851_1855delinsAG (p.Gly618_Pro619delinsAla) indel Ehlers-Danlos syndrome, type 4 [RCV000821553] Chr2:188997371..188997375 [GRCh38]
Chr2:189862097..189862101 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2973A>G (p.Glu991=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770599] Chr2:189005391 [GRCh38]
Chr2:189870117 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3093+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633543]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770600] Chr2:189006260 [GRCh38]
Chr2:189870986 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.4284C>A (p.Val1428=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000864021] Chr2:189011657 [GRCh38]
Chr2:189876383 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3040-6A>G single nucleotide variant not provided [RCV000926876] Chr2:189006200 [GRCh38]
Chr2:189870926 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2511C>A (p.Gly837=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001448828]|Familial thoracic aortic aneurysm and aortic dissection [RCV004029734] Chr2:189003020 [GRCh38]
Chr2:189867746 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2931+9A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000862006]|not provided [RCV001655613] Chr2:189004373 [GRCh38]
Chr2:189869099 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.853-7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000869330]|Ehlers-Danlos syndrome, type 4 [RCV002478977]|not provided [RCV001664507] Chr2:188991480 [GRCh38]
Chr2:189856206 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2688C>T (p.Ser896=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001425121]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183386] Chr2:189004008 [GRCh38]
Chr2:189868734 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1815+4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000869447]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180910]|not provided [RCV001533865] Chr2:188997222 [GRCh38]
Chr2:189861948 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2553+7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000920631] Chr2:189003069 [GRCh38]
Chr2:189867795 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3672A>G (p.Pro1224=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001506740]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176437] Chr2:189009070 [GRCh38]
Chr2:189873796 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.84T>C (p.Val28=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000867839]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188657] Chr2:188984764 [GRCh38]
Chr2:189849490 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1860A>G (p.Pro620=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001436855] Chr2:188997380 [GRCh38]
Chr2:189862106 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.897+10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001452089] Chr2:188991541 [GRCh38]
Chr2:189856267 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001253309]|POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME [RCV000758212]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000853487] Chr2:188984825 [GRCh38]
Chr2:189849551 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2057del (p.Pro686fs) deletion Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000758211] Chr2:188999318 [GRCh38]
Chr2:189864044 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu) single nucleotide variant Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV000758209] Chr2:189010205 [GRCh38]
Chr2:189874931 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770601] Chr2:189006368 [GRCh38]
Chr2:189871094 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.989G>A (p.Gly330Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000769565] Chr2:188992221 [GRCh38]
Chr2:189856947 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.447+1G>A single nucleotide variant Familial aortopathy [RCV000781313] Chr2:188985779 [GRCh38]
Chr2:189850505 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000870264]|Familial thoracic aortic aneurysm and aortic dissection [RCV000769571] Chr2:189001400 [GRCh38]
Chr2:189866126 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1450G>A (p.Glu484Lys) single nucleotide variant not specified [RCV000780192] Chr2:188994826 [GRCh38]
Chr2:189859552 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000818333]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189276]|not provided [RCV002272351]|not specified [RCV000780193] Chr2:189006237 [GRCh38]
Chr2:189870963 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.952-6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001480969] Chr2:188992178 [GRCh38]
Chr2:189856904 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2841T>C (p.Leu947=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001469375] Chr2:189004274 [GRCh38]
Chr2:189869000 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3402A>G (p.Gly1134=) single nucleotide variant not provided [RCV000828319] Chr2:189007923 [GRCh38]
Chr2:189872649 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.891A>C (p.Gly297=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000871263]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190009] Chr2:188991525 [GRCh38]
Chr2:189856251 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2445+67A>G single nucleotide variant not provided [RCV000832651] Chr2:189002418 [GRCh38]
Chr2:189867144 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2824-25G>A single nucleotide variant not provided [RCV000836023] Chr2:189004232 [GRCh38]
Chr2:189868958 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-21G>A single nucleotide variant not provided [RCV000836052] Chr2:188984739 [GRCh38]
Chr2:189849465 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.636+91A>G single nucleotide variant not provided [RCV000836053] Chr2:188988734 [GRCh38]
Chr2:189853460 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+180T>C single nucleotide variant not provided [RCV000836054] Chr2:188989629 [GRCh38]
Chr2:189854355 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.996+213C>T single nucleotide variant not provided [RCV000836055] Chr2:188992441 [GRCh38]
Chr2:189857167 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1609-124A>G single nucleotide variant not provided [RCV000836056] Chr2:188996001 [GRCh38]
Chr2:189860727 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1924-175G>C single nucleotide variant not provided [RCV000836057] Chr2:188998091 [GRCh38]
Chr2:189862817 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.3:c.898-14A>G single nucleotide variant not provided [RCV000837955] Chr2:189856381 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.691-8C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633548]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177961]|not provided [RCV000842317] Chr2:188990088 [GRCh38]
Chr2:189854814 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3823+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000795865] Chr2:189009222 [GRCh38]
Chr2:189873948 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.951+223C>T single nucleotide variant not provided [RCV000838050] Chr2:188991945 [GRCh38]
Chr2:189856671 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1836T>C (p.Gly612=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001406391]|Familial thoracic aortic aneurysm and aortic dissection [RCV002409005]|not provided [RCV000842508] Chr2:188997356 [GRCh38]
Chr2:189862082 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+173T>A single nucleotide variant not provided [RCV000834598] Chr2:188989622 [GRCh38]
Chr2:189854348 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.690+174T>C single nucleotide variant not provided [RCV000834599] Chr2:188989623 [GRCh38]
Chr2:189854349 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1608+114A>C single nucleotide variant not provided [RCV000834600] Chr2:188995904 [GRCh38]
Chr2:189860630 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1869+134G>A single nucleotide variant not provided [RCV000834601] Chr2:188997523 [GRCh38]
Chr2:189862249 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1924-184A>C single nucleotide variant not provided [RCV000834602] Chr2:188998082 [GRCh38]
Chr2:189862808 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2445+162C>T single nucleotide variant not provided [RCV000834603] Chr2:189002513 [GRCh38]
Chr2:189867239 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.582+157A>G single nucleotide variant not provided [RCV000834612] Chr2:188988291 [GRCh38]
Chr2:189853017 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1509+83C>T single nucleotide variant not provided [RCV000832629] Chr2:188995182 [GRCh38]
Chr2:189859908 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-274G>T single nucleotide variant not provided [RCV000832630] Chr2:188995418 [GRCh38]
Chr2:189860144 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1609-59T>C single nucleotide variant not provided [RCV000832631] Chr2:188996066 [GRCh38]
Chr2:189860792 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1870-74G>A single nucleotide variant not provided [RCV000832632] Chr2:188997626 [GRCh38]
Chr2:189862352 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1924-102G>A single nucleotide variant not provided [RCV000832633] Chr2:188998164 [GRCh38]
Chr2:189862890 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.3:c.2391+28delC deletion not provided [RCV000832634]   benign
NM_000090.4(COL3A1):c.333+130C>T single nucleotide variant not provided [RCV000834649] Chr2:188985377 [GRCh38]
Chr2:189850103 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.951+177C>T single nucleotide variant not provided [RCV000834650] Chr2:188991899 [GRCh38]
Chr2:189856625 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1608+141A>G single nucleotide variant not provided [RCV000834651] Chr2:188995931 [GRCh38]
Chr2:189860657 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3039+193T>C single nucleotide variant not provided [RCV000834652] Chr2:189005650 [GRCh38]
Chr2:189870376 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4026T>C (p.Asn1342=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001408641]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189205] Chr2:189010662 [GRCh38]
Chr2:189875388 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2522T>C (p.Val841Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000802503]|not provided [RCV003456433] Chr2:189003031 [GRCh38]
Chr2:189867757 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3474_3491dup (p.Ile1160_Pro1165dup) duplication Ehlers-Danlos syndrome, type 4 [RCV000794524] Chr2:189008085..189008086 [GRCh38]
Chr2:189872811..189872812 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202-90A>G single nucleotide variant not provided [RCV000832654] Chr2:189006847 [GRCh38]
Chr2:189871573 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.3:c.3202-40G>A single nucleotide variant not provided [RCV000832655] Chr2:189871623 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.3:c.3202-36C>T single nucleotide variant not provided [RCV000832656] Chr2:189871627 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.79+204T>C single nucleotide variant not provided [RCV000834794] Chr2:188974772 [GRCh38]
Chr2:189839498 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000806006] Chr2:188999313 [GRCh38]
Chr2:189864039 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) duplication Ehlers-Danlos syndrome, type 4 [RCV000806079]|Familial aortopathy [RCV001824888] Chr2:188991707..188991708 [GRCh38]
Chr2:189856433..189856434 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1435C>T (p.Pro479Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000799173] Chr2:188994811 [GRCh38]
Chr2:189859537 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.636+126C>T single nucleotide variant not provided [RCV000832897] Chr2:188988769 [GRCh38]
Chr2:189853495 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.282+85A>G single nucleotide variant not provided [RCV000833070] Chr2:188985047 [GRCh38]
Chr2:189849773 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.3:c.4011+34A>G single nucleotide variant not provided [RCV000833071] Chr2:189875125 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2284-215A>G single nucleotide variant not provided [RCV000834910] Chr2:189001182 [GRCh38]
Chr2:189865908 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.997-277A>G single nucleotide variant not provided [RCV000843522] Chr2:188992610 [GRCh38]
Chr2:189857336 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1869+88C>T single nucleotide variant not provided [RCV000830138] Chr2:188997477 [GRCh38]
Chr2:189862203 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.690+162A>G single nucleotide variant not provided [RCV000835161] Chr2:188989611 [GRCh38]
Chr2:189854337 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2445+128G>A single nucleotide variant not provided [RCV000833588] Chr2:189002479 [GRCh38]
Chr2:189867205 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1150-20T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002538256]|not provided [RCV000827214] Chr2:188994018 [GRCh38]
Chr2:189858744 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4255-224C>T single nucleotide variant not provided [RCV000839105] Chr2:189011404 [GRCh38]
Chr2:189876130 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.691-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000807317] Chr2:188990094 [GRCh38]
Chr2:189854820 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3440_3466del (p.Pro1147_Gly1155del) deletion Ehlers-Danlos syndrome, type 4 [RCV000809044] Chr2:189008048..189008074 [GRCh38]
Chr2:189872774..189872800 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.691-76G>A single nucleotide variant not provided [RCV000830232] Chr2:188990020 [GRCh38]
Chr2:189854746 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+5G>A single nucleotide variant not provided [RCV000788392] Chr2:188998324 [GRCh38]
Chr2:189863050 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1509+10T>C single nucleotide variant not provided [RCV000828360] Chr2:188995109 [GRCh38]
Chr2:189859835 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2662-92G>C single nucleotide variant not provided [RCV000835210] Chr2:189003890 [GRCh38]
Chr2:189868616 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3824-8C>T single nucleotide variant not provided [RCV000788198] Chr2:189010170 [GRCh38]
Chr2:189874896 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2042G>A (p.Gly681Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001045299]|not provided [RCV000788231] Chr2:188999304 [GRCh38]
Chr2:189864030 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.879T>A (p.Asn293Lys) single nucleotide variant not provided [RCV000788182] Chr2:188991513 [GRCh38]
Chr2:189856239 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.624A>G (p.Gln208=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000821033] Chr2:188988631 [GRCh38]
Chr2:189853357 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4382G>T (p.Gly1461Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000792537] Chr2:189011755 [GRCh38]
Chr2:189876481 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2536G>A (p.Gly846Arg) single nucleotide variant not provided [RCV000788705] Chr2:189003045 [GRCh38]
Chr2:189867771 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2445+19A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002535781]|not provided [RCV000788563] Chr2:189002370 [GRCh38]
Chr2:189867096 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.80-69A>G single nucleotide variant not provided [RCV000836051] Chr2:188984691 [GRCh38]
Chr2:189849417 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.3:c.2445+19A>G single nucleotide variant not provided [RCV000842223] Chr2:189867096 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000793216]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187007]|not specified [RCV001251344] Chr2:188974544 [GRCh38]
Chr2:189839270 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.3:c.2608-50C>T single nucleotide variant not provided [RCV000832653] Chr2:189868410 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000795126]|Ehlers-Danlos syndrome, type 4 [RCV002493453]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528234]|not provided [RCV001557694]|not specified [RCV003117583] Chr2:188997715 [GRCh38]
Chr2:189862441 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.529-318A>G single nucleotide variant not provided [RCV000829039] Chr2:188987763 [GRCh38]
Chr2:189852489 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
NM_000090.4(COL3A1):c.349C>A (p.Pro117Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000806472]|not provided [RCV001759543] Chr2:188985680 [GRCh38]
Chr2:189850406 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2823+20T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002538269]|not provided [RCV000828044] Chr2:189004163 [GRCh38]
Chr2:189868889 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000806513] Chr2:189006991 [GRCh38]
Chr2:189871717 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.853-127A>G single nucleotide variant not provided [RCV000830233] Chr2:188991360 [GRCh38]
Chr2:189856086 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1895C>T (p.Thr632Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000810365]|Ehlers-Danlos syndrome, type 4 [RCV002487757]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180745]|not provided [RCV002249522] Chr2:188997725 [GRCh38]
Chr2:189862451 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3298C>T (p.Arg1100Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136856] Chr2:189007542 [GRCh38]
Chr2:189872268 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3574G>A (p.Ala1192Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000817978] Chr2:189008972 [GRCh38]
Chr2:189873698 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3466C>T (p.His1156Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000818384]|Familial thoracic aortic aneurysm and aortic dissection [RCV002460111] Chr2:189008083 [GRCh38]
Chr2:189872809 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000792990]|Ehlers-Danlos syndrome, type 4 [RCV002501039]|Familial thoracic aortic aneurysm and aortic dissection [RCV002422679] Chr2:188998692 [GRCh38]
Chr2:189863418 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2229+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000793968]|Familial thoracic aortic aneurysm and aortic dissection [RCV002424801] Chr2:188999578 [GRCh38]
Chr2:189864304 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000826160] Chr2:188999879 [GRCh38]
Chr2:189864605 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.3(COL3A1):c.-118T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136638] Chr2:188974372 [GRCh38]
Chr2:189839098 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4255-266G>A single nucleotide variant not provided [RCV000828957] Chr2:189011362 [GRCh38]
Chr2:189876088 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1869+3A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000795672] Chr2:188997392 [GRCh38]
Chr2:189862118 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3170C>G (p.Pro1057Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000798681] Chr2:189006421 [GRCh38]
Chr2:189871147 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.3:c.2022+6A>T single nucleotide variant not provided [RCV000827200] Chr2:189863450 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.469T>A (p.Ser157Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000801588] Chr2:188987080 [GRCh38]
Chr2:189851806 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4257A>G (p.Lys1419=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000820554] Chr2:189011630 [GRCh38]
Chr2:189876356 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000822461] Chr2:188991050 [GRCh38]
Chr2:189855776 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.852+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000822877] Chr2:188991059 [GRCh38]
Chr2:189855785 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2067_2072del (p.Gly690_Ala691del) deletion Ehlers-Danlos syndrome, type 4 [RCV000823072] Chr2:188999326..188999331 [GRCh38]
Chr2:189864052..189864057 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3593G>A (p.Gly1198Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000812113]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186025]|not provided [RCV001593002] Chr2:189008991 [GRCh38]
Chr2:189873717 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.799-303C>G single nucleotide variant not provided [RCV000828686] Chr2:188990701 [GRCh38]
Chr2:189855427 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3823+276_3823+277insA insertion not provided [RCV000843515] Chr2:189009497..189009498 [GRCh38]
Chr2:189874223..189874224 [GRCh37]
Chr2:2q32.2		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_000090.3(COL3A1):c.-416A>G single nucleotide variant not provided [RCV000828901] Chr2:188974074 [GRCh38]
Chr2:189838800 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+24G>T single nucleotide variant not provided [RCV000833941] Chr2:188989473 [GRCh38]
Chr2:189854199 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.799-86A>G single nucleotide variant not provided [RCV000833942] Chr2:188990918 [GRCh38]
Chr2:189855644 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3525+23G>C single nucleotide variant not provided [RCV000833943] Chr2:189008165 [GRCh38]
Chr2:189872891 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000797790] Chr2:189011733 [GRCh38]
Chr2:189876459 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2993A>T (p.Gln998Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633547]|not provided [RCV000788269] Chr2:189005411 [GRCh38]
Chr2:189870137 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1509G>A (p.Lys503=) single nucleotide variant not provided [RCV000788846] Chr2:188995099 [GRCh38]
Chr2:189859825 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.447+190T>C single nucleotide variant not provided [RCV000834597] Chr2:188985968 [GRCh38]
Chr2:189850694 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2392-232A>G single nucleotide variant not provided [RCV000838100] Chr2:189002066 [GRCh38]
Chr2:189866792 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.838G>A (p.Ala280Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000800951]|Ehlers-Danlos syndrome, type 4 [RCV002487691]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191160] Chr2:188991043 [GRCh38]
Chr2:189855769 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1347+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000800953]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191161] Chr2:188994600 [GRCh38]
Chr2:189859326 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2283+219C>T single nucleotide variant not provided [RCV000831473] Chr2:189000114 [GRCh38]
Chr2:189864840 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1149+59_1149+85del microsatellite not provided [RCV000834814] Chr2:188993485..188993511 [GRCh38]
Chr2:189858211..189858237 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.952-218A>T single nucleotide variant not provided [RCV000835016] Chr2:188991966 [GRCh38]
Chr2:189856692 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.334-186C>T single nucleotide variant not provided [RCV000835052] Chr2:188985479 [GRCh38]
Chr2:189850205 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1239G>A (p.Arg413=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001410001] Chr2:188994278 [GRCh38]
Chr2:189859004 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.334-175G>A single nucleotide variant not provided [RCV000835105] Chr2:188985490 [GRCh38]
Chr2:189850216 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1336C>T (p.Arg446Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000806479] Chr2:188994583 [GRCh38]
Chr2:189859309 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2351C>A (p.Ala784Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000808306] Chr2:189001549 [GRCh38]
Chr2:189866275 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.799-56T>A single nucleotide variant not provided [RCV000830134] Chr2:188990948 [GRCh38]
Chr2:189855674 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1510-290C>T single nucleotide variant not provided [RCV000830137] Chr2:188995402 [GRCh38]
Chr2:189860128 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.3:c.2337+23T>A single nucleotide variant not provided [RCV000830139] Chr2:189866199 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.952-18G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002064394]|not provided [RCV000842330] Chr2:188992166 [GRCh38]
Chr2:189856892 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2159G>A (p.Gly720Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000809935] Chr2:188999507 [GRCh38]
Chr2:189864233 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2608-79G>A single nucleotide variant not provided [RCV000832652] Chr2:189003655 [GRCh38]
Chr2:189868381 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2608-19A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002067505]|not provided [RCV000836087] Chr2:189003715 [GRCh38]
Chr2:189868441 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.637-243G>A single nucleotide variant not provided [RCV000839593] Chr2:188989153 [GRCh38]
Chr2:189853879 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1071G>C (p.Gly357=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559785]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181494] Chr2:188993381 [GRCh38]
Chr2:189858107 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_000090.4(COL3A1):c.3510T>C (p.Gly1170=) single nucleotide variant not provided [RCV000997618] Chr2:189008127 [GRCh38]
Chr2:189872853 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3093+3A>G single nucleotide variant not provided [RCV000997617] Chr2:189006262 [GRCh38]
Chr2:189870988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.898-8C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001500022]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524448] Chr2:188991661 [GRCh38]
Chr2:189856387 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1891G>A (p.Asp631Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001053563] Chr2:188997721 [GRCh38]
Chr2:189862447 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3007C>T (p.Leu1003=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178522] Chr2:189005425 [GRCh38]
Chr2:189870151 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1745G>A (p.Gly582Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001056189] Chr2:188996480 [GRCh38]
Chr2:189861206 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000850541] Chr2:189006409 [GRCh38]
Chr2:189871135 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2521G>T (p.Val841Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001875996]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180698] Chr2:189003030 [GRCh38]
Chr2:189867756 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1570C>T (p.Pro524Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181228] Chr2:188995752 [GRCh38]
Chr2:189860478 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2553T>A (p.Ala851=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181259] Chr2:189003062 [GRCh38]
Chr2:189867788 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA microsatellite Ehlers-Danlos syndrome, type 4 [RCV000986954]|not provided [RCV001692332] Chr2:188996303..188996304 [GRCh38]
Chr2:189861029..189861030 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4066T>G (p.Phe1356Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001338238]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182131]|not specified [RCV001823762] Chr2:189010702 [GRCh38]
Chr2:189875428 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2479A>G (p.Arg827Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182133]|not provided [RCV001760134] Chr2:189002988 [GRCh38]
Chr2:189867714 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2424T>C (p.Pro808=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182187] Chr2:189002330 [GRCh38]
Chr2:189867056 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1860A>T (p.Pro620=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559811]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182818]|not provided [RCV001811686] Chr2:188997380 [GRCh38]
Chr2:189862106 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2554-6A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008329]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182826] Chr2:189003405 [GRCh38]
Chr2:189868131 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4224C>G (p.Phe1408Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001059154] Chr2:189010860 [GRCh38]
Chr2:189875586 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1850A>G (p.Gln617Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175746] Chr2:188997370 [GRCh38]
Chr2:189862096 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*3C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175880] Chr2:189011777 [GRCh38]
Chr2:189876503 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1195-6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182128] Chr2:188994228 [GRCh38]
Chr2:189858954 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1507A>G (p.Lys503Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176389] Chr2:188995097 [GRCh38]
Chr2:189859823 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.80-13del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001176686] Chr2:188984746 [GRCh38]
Chr2:189849472 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3953A>G (p.Asp1318Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182419] Chr2:189010307 [GRCh38]
Chr2:189875033 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3255T>A (p.Pro1085=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184124] Chr2:189006990 [GRCh38]
Chr2:189871716 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1150-4T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001317861]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177022] Chr2:188994034 [GRCh38]
Chr2:189858760 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559715]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177064] Chr2:188997339 [GRCh38]
Chr2:189862065 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.2531C>T (p.Pro844Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559863]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184414] Chr2:189003040 [GRCh38]
Chr2:189867766 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1976C>G (p.Pro659Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177269] Chr2:188998318 [GRCh38]
Chr2:189863044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1900C>T (p.Pro634Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002560861]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184701]|not provided [RCV001595071] Chr2:188997730 [GRCh38]
Chr2:189862456 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559068]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184706] Chr2:188996182 [GRCh38]
Chr2:189860908 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2373T>C (p.Ala791=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559880]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184911] Chr2:189001571 [GRCh38]
Chr2:189866297 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2844G>T (p.Gly948=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178004] Chr2:189004277 [GRCh38]
Chr2:189869003 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1346G>A (p.Arg449His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633560]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178391] Chr2:188994593 [GRCh38]
Chr2:189859319 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2797G>A (p.Gly933Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001233189] Chr2:189004117 [GRCh38]
Chr2:189868843 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.996A>G (p.Pro332=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001216883]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526070] Chr2:188992228 [GRCh38]
Chr2:189856954 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1322del (p.Gly441fs) deletion Ehlers-Danlos syndrome [RCV001250387] Chr2:188994568 [GRCh38]
Chr2:189859294 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4255-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001224436] Chr2:189011627 [GRCh38]
Chr2:189876353 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.448-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001223034]|Familial thoracic aortic aneurysm and aortic dissection [RCV004032462] Chr2:188987058 [GRCh38]
Chr2:189851784 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.193A>G (p.Ile65Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001227423]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806062] Chr2:188984873 [GRCh38]
Chr2:189849599 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4257A>C (p.Lys1419Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001224435] Chr2:189011630 [GRCh38]
Chr2:189876356 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3824-11T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068280]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180751]|not specified [RCV002307692] Chr2:189010167 [GRCh38]
Chr2:189874893 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2623C>T (p.Pro875Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001241768] Chr2:189003749 [GRCh38]
Chr2:189868475 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3260C>T (p.Pro1087Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001242212]|Ehlers-Danlos syndrome, type 4 [RCV002484328] Chr2:189007504 [GRCh38]
Chr2:189872230 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-13T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181727] Chr2:189011615 [GRCh38]
Chr2:189876341 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2608-15A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181729] Chr2:189003719 [GRCh38]
Chr2:189868445 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3576C>G (p.Ala1192=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180992] Chr2:189008974 [GRCh38]
Chr2:189873700 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3523G>A (p.Glu1175Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001204209] Chr2:189008140 [GRCh38]
Chr2:189872866 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3882T>C (p.Cys1294=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006769]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181932] Chr2:189010236 [GRCh38]
Chr2:189874962 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.509C>T (p.Ala170Val) single nucleotide variant Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001198094] Chr2:188987120 [GRCh38]
Chr2:189851846 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3901A>G (p.Thr1301Ala) single nucleotide variant not provided [RCV003313569] Chr2:189010255 [GRCh38]
Chr2:189874981 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1444G>C (p.Ala482Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002480586]|Ehlers-Danlos syndrome, type 4 [RCV004000301]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175913]|not provided [RCV001562576] Chr2:188994820 [GRCh38]
Chr2:189859546 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.874G>A (p.Glu292Lys) single nucleotide variant COL3A1-related disorder [RCV004538413]|Ehlers-Danlos syndrome, type 4 [RCV001876094]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183254] Chr2:188991508 [GRCh38]
Chr2:189856234 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3010G>T (p.Ala1004Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176010] Chr2:189005428 [GRCh38]
Chr2:189870154 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1307A>G (p.Lys436Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001875804]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176263] Chr2:188994554 [GRCh38]
Chr2:189859280 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1723C>T (p.Pro575Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183625] Chr2:188996458 [GRCh38]
Chr2:189861184 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.58A>G (p.Ile20Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633557]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176380] Chr2:188974547 [GRCh38]
Chr2:189839273 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1378G>A (p.Ala460Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523068]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183795] Chr2:188994754 [GRCh38]
Chr2:189859480 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.578C>T (p.Ser193Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183839] Chr2:188988130 [GRCh38]
Chr2:189852856 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+14T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143320] Chr2:188996192 [GRCh38]
Chr2:189860918 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3093+3A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001304684]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176860] Chr2:189006262 [GRCh38]
Chr2:189870988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2290A>G (p.Thr764Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002555470]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177165] Chr2:189001403 [GRCh38]
Chr2:189866129 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3693C>T (p.Thr1231=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876144]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184597] Chr2:189009091 [GRCh38]
Chr2:189873817 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3309T>G (p.Ala1103=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177285] Chr2:189007553 [GRCh38]
Chr2:189872279 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1032T>G (p.Pro344=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633571]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184692] Chr2:188992922 [GRCh38]
Chr2:189857648 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1543G>A (p.Ala515Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184912] Chr2:188995725 [GRCh38]
Chr2:189860451 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2351C>T (p.Ala784Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002561042]|Familial thoracic aortic aneurysm and aortic dissection [RCV002447041]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001195803]|not provided [RCV003319449] Chr2:189001549 [GRCh38]
Chr2:189866275 [GRCh37]
Chr2:2q32.2		 likely pathogenic|likely benign|uncertain significance
NM_000090.4(COL3A1):c.1986G>T (p.Lys662Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185150] Chr2:188998682 [GRCh38]
Chr2:189863408 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001362078]|not specified [RCV001192747] Chr2:189001560 [GRCh38]
Chr2:189866286 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4156G>A (p.Val1386Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001330977]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178506] Chr2:189010792 [GRCh38]
Chr2:189875518 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.393C>T (p.Ser131=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002067890]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178514] Chr2:188985724 [GRCh38]
Chr2:189850450 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.303T>C (p.Gly101=) single nucleotide variant not specified [RCV001194124] Chr2:188985217 [GRCh38]
Chr2:189849943 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-12G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003104828] Chr2:188994529 [GRCh38]
Chr2:189859255 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4255-10T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003104671] Chr2:189011618 [GRCh38]
Chr2:189876344 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3		 uncertain significance|no classifications from unflagged records
NM_000090.4(COL3A1):c.690+284C>A single nucleotide variant not provided [RCV001574922] Chr2:188989733 [GRCh38]
Chr2:189854459 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[7] microsatellite not provided [RCV001567977] Chr2:188997014..188997015 [GRCh38]
Chr2:189861740..189861741 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1595G>A (p.Gly532Asp) single nucleotide variant not provided [RCV001553500] Chr2:188995777 [GRCh38]
Chr2:189860503 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3255+84G>C single nucleotide variant not provided [RCV001695405] Chr2:189007074 [GRCh38]
Chr2:189871800 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.80-131T>C single nucleotide variant not provided [RCV001560642] Chr2:188984629 [GRCh38]
Chr2:189849355 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2501G>C (p.Gly834Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001706946] Chr2:189003010 [GRCh38]
Chr2:189867736 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3255+172GATA[13] microsatellite not provided [RCV001561259] Chr2:189007161..189007162 [GRCh38]
Chr2:189871887..189871888 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+172GATA[10] microsatellite not provided [RCV001713480] Chr2:189007162..189007169 [GRCh38]
Chr2:189871888..189871895 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2931+75T>A single nucleotide variant not provided [RCV001648609] Chr2:189004439 [GRCh38]
Chr2:189869165 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-92AC[13] microsatellite not provided [RCV001556698] Chr2:188996305..188996306 [GRCh38]
Chr2:189861031..189861032 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2445+234T>C single nucleotide variant not provided [RCV001640931] Chr2:189002585 [GRCh38]
Chr2:189867311 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-94_1663-93insCACA insertion not provided [RCV001681664] Chr2:188996303..188996304 [GRCh38]
Chr2:189861029..189861030 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1923+174T>C single nucleotide variant not provided [RCV001586922] Chr2:188997927 [GRCh38]
Chr2:189862653 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1609-118A>G single nucleotide variant not provided [RCV001685639] Chr2:188996007 [GRCh38]
Chr2:189860733 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2554-4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001963937] Chr2:189003407 [GRCh38]
Chr2:189868133 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1293+22C>T single nucleotide variant not provided [RCV001575155] Chr2:188994354 [GRCh38]
Chr2:189859080 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.637-11C>T single nucleotide variant not provided [RCV001551848] Chr2:188989385 [GRCh38]
Chr2:189854111 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2607+35C>A single nucleotide variant not provided [RCV001563252] Chr2:189003499 [GRCh38]
Chr2:189868225 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1177G>C (p.Gly393Arg) single nucleotide variant not provided [RCV001579346] Chr2:188994065 [GRCh38]
Chr2:189858791 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3202-188C>T single nucleotide variant not provided [RCV001674730] Chr2:189006749 [GRCh38]
Chr2:189871475 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002324137]|not provided [RCV001558708] Chr2:189006417 [GRCh38]
Chr2:189871143 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1663-59A>G single nucleotide variant not provided [RCV001588067] Chr2:188996339 [GRCh38]
Chr2:189861065 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+181A>G single nucleotide variant not provided [RCV001677738] Chr2:188990541 [GRCh38]
Chr2:189855267 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-108_1663-101del deletion not provided [RCV001552445] Chr2:188996289..188996296 [GRCh38]
Chr2:189861015..189861022 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+107AT[21] microsatellite not provided [RCV001552451] Chr2:189007097..189007098 [GRCh38]
Chr2:189871823..189871824 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2023-175C>A single nucleotide variant not provided [RCV001559651] Chr2:188999110 [GRCh38]
Chr2:189863836 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-3C>T single nucleotide variant not provided [RCV001574035] Chr2:189007882 [GRCh38]
Chr2:189872608 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.405T>C (p.Pro135=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001425735]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183528] Chr2:188985736 [GRCh38]
Chr2:189850462 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4176G>A (p.Leu1392=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001461239]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182049]|not provided [RCV000951602] Chr2:189010812 [GRCh38]
Chr2:189875538 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3522T>A (p.Ser1174=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001400247] Chr2:189008139 [GRCh38]
Chr2:189872865 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001138889] Chr2:188984863 [GRCh38]
Chr2:189849589 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1473A>C (p.Arg491=) single nucleotide variant COL3A1-related disorder [RCV004541740]|Ehlers-Danlos syndrome, type 4 [RCV001401008]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179354] Chr2:188995063 [GRCh38]
Chr2:189859789 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4386T>C (p.Pro1462=) single nucleotide variant not provided [RCV000875872] Chr2:189011759 [GRCh38]
Chr2:189876485 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3993C>T (p.Ser1331=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002065901] Chr2:189010347 [GRCh38]
Chr2:189875073 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2838A>T (p.Pro946=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001499786] Chr2:189004271 [GRCh38]
Chr2:189868997 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136854] Chr2:189006416 [GRCh38]
Chr2:189871142 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000863850]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189197]|not provided [RCV001772159]|not specified [RCV003489947] Chr2:188985203 [GRCh38]
Chr2:189849929 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.528+9A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001475907] Chr2:188987148 [GRCh38]
Chr2:189851874 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4368T>A (p.Phe1456Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001207202] Chr2:189011741 [GRCh38]
Chr2:189876467 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2823+1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001221963] Chr2:189004144 [GRCh38]
Chr2:189868870 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.41C>G (p.Ala14Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006593]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179685] Chr2:188974530 [GRCh38]
Chr2:189839256 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1609-4T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187008] Chr2:188996121 [GRCh38]
Chr2:189860847 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559967]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187100]|not specified [RCV001375574] Chr2:189006396 [GRCh38]
Chr2:189871122 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1261G>A (p.Ala421Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523074]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187149]|not provided [RCV002286818] Chr2:188994300 [GRCh38]
Chr2:189859026 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.776T>C (p.Phe259Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633579]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192157] Chr2:188990338 [GRCh38]
Chr2:189855064 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4143G>C (p.Gln1381His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192241] Chr2:189010779 [GRCh38]
Chr2:189875505 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1855C>T (p.Pro619Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192248] Chr2:188997375 [GRCh38]
Chr2:189862101 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.997G>C (p.Gly333Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001249343] Chr2:188992887 [GRCh38]
Chr2:189857613 [GRCh37]
Chr2:2q32.2		 not provided
NM_000090.4(COL3A1):c.2980C>A (p.Pro994Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182577] Chr2:189005398 [GRCh38]
Chr2:189870124 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4295G>A (p.Arg1432Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876192]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187252] Chr2:189011668 [GRCh38]
Chr2:189876394 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2540G>T (p.Gly847Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002480621]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187451] Chr2:189003049 [GRCh38]
Chr2:189867775 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-286A>G single nucleotide variant not provided [RCV001582291] Chr2:188989810 [GRCh38]
Chr2:189854536 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.40G>T (p.Ala14Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008349]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183081] Chr2:188974529 [GRCh38]
Chr2:189839255 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2236C>A (p.Pro746Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180199] Chr2:188999848 [GRCh38]
Chr2:189864574 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1580A>G (p.Asp527Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187534] Chr2:188995762 [GRCh38]
Chr2:189860488 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2230-7T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180398] Chr2:188999835 [GRCh38]
Chr2:189864561 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.300T>G (p.Asn100Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008733]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187758] Chr2:188985214 [GRCh38]
Chr2:189849940 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.222C>T (p.Cys74=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559135]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187760] Chr2:188984902 [GRCh38]
Chr2:189849628 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2726G>A (p.Gly909Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001207884] Chr2:189004046 [GRCh38]
Chr2:189868772 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.119C>G (p.Ala40Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001862964]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187824] Chr2:188984799 [GRCh38]
Chr2:189849525 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.923G>A (p.Arg308Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002484026]|Ehlers-Danlos syndrome, type 4 [RCV003523075]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187872]|not provided [RCV001760142] Chr2:188991694 [GRCh38]
Chr2:189856420 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2003C>T (p.Pro668Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188048] Chr2:188998699 [GRCh38]
Chr2:189863425 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4226C>G (p.Thr1409Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188049] Chr2:189010862 [GRCh38]
Chr2:189875588 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001222730] Chr2:189007499 [GRCh38]
Chr2:189872225 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2108C>T (p.Pro703Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001244932] Chr2:188999370 [GRCh38]
Chr2:189864096 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3551C>G (p.Pro1184Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188485] Chr2:189008949 [GRCh38]
Chr2:189873675 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.79+2_79+3dup duplication Ehlers-Danlos syndrome, type 4 [RCV001069512] Chr2:188974568..188974569 [GRCh38]
Chr2:189839294..189839295 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.531C>T (p.Gly177=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189001] Chr2:188988083 [GRCh38]
Chr2:189852809 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-5C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002069057]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189016] Chr2:189006932 [GRCh38]
Chr2:189871658 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3484C>T (p.Pro1162Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010331]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189073] Chr2:189008101 [GRCh38]
Chr2:189872827 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3390C>A (p.Ile1130=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002069060]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189097]|not provided [RCV001565161] Chr2:189007911 [GRCh38]
Chr2:189872637 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1667G>A (p.Ser556Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523076]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189241] Chr2:188996402 [GRCh38]
Chr2:189861128 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.39C>T (p.Leu13=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001486997]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189300] Chr2:188974528 [GRCh38]
Chr2:189839254 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+10G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171063] Chr2:189007000 [GRCh38]
Chr2:189871726 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001223695] Chr2:189009133..189009136 [GRCh38]
Chr2:189873859..189873862 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.553C>G (p.Pro185Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001245286]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001330978] Chr2:188988105 [GRCh38]
Chr2:189852831 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1976C>T (p.Pro659Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001248344]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183753]|not provided [RCV001751330] Chr2:188998318 [GRCh38]
Chr2:189863044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.80C>A (p.Ala27Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184192] Chr2:188984760 [GRCh38]
Chr2:189849486 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2530C>T (p.Pro844Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176966] Chr2:189003039 [GRCh38]
Chr2:189867765 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.-10A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006349]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176984] Chr2:188974480 [GRCh38]
Chr2:189839206 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1660C>G (p.Pro554Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189748] Chr2:188996176 [GRCh38]
Chr2:189860902 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1494C>A (p.Gly498=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189809] Chr2:188995084 [GRCh38]
Chr2:189859810 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.902C>G (p.Pro301Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001224146] Chr2:188991673 [GRCh38]
Chr2:189856399 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4330A>G (p.Ile1444Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177952] Chr2:189011703 [GRCh38]
Chr2:189876429 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3678T>C (p.Asp1226=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002069100]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190028] Chr2:189009076 [GRCh38]
Chr2:189873802 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-6C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190056] Chr2:188994535 [GRCh38]
Chr2:189859261 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2023-15A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002069104]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190063] Chr2:188999270 [GRCh38]
Chr2:189863996 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.617C>G (p.Pro206Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190065] Chr2:188988624 [GRCh38]
Chr2:189853350 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.784A>G (p.Met262Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001226764]|Ehlers-Danlos syndrome, type 4 [RCV002497663]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190093] Chr2:188990346 [GRCh38]
Chr2:189855072 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1207A>G (p.Ile403Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002480631]|Ehlers-Danlos syndrome, type 4 [RCV003633577]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190225] Chr2:188994246 [GRCh38]
Chr2:189858972 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3207T>G (p.Pro1069=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006457]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178261]|not provided [RCV003326548] Chr2:189006942 [GRCh38]
Chr2:189871668 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3323A>G (p.His1108Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633559]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178388] Chr2:189007567 [GRCh38]
Chr2:189872293 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-12T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190275] Chr2:188990084 [GRCh38]
Chr2:189854810 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1216G>C (p.Ala406Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190535] Chr2:188994255 [GRCh38]
Chr2:189858981 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3235G>T (p.Ala1079Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190563] Chr2:189006970 [GRCh38]
Chr2:189871696 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4275C>A (p.Ser1425Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001339245]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190568] Chr2:189011648 [GRCh38]
Chr2:189876374 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1118C>T (p.Pro373Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182647] Chr2:188993428 [GRCh38]
Chr2:189858154 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3852A>G (p.Gly1284=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633567]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182694] Chr2:189010206 [GRCh38]
Chr2:189874932 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.785T>C (p.Met262Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002491530]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182872] Chr2:188990347 [GRCh38]
Chr2:189855073 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4254+10A>G single nucleotide variant not specified [RCV001194121] Chr2:189010900 [GRCh38]
Chr2:189875626 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2409T>C (p.Thr803=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186016] Chr2:189002315 [GRCh38]
Chr2:189867041 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3940C>T (p.His1314Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190693] Chr2:189010294 [GRCh38]
Chr2:189875020 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1334C>T (p.Pro445Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143318] Chr2:188994581 [GRCh38]
Chr2:189859307 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001210034]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183250]|not provided [RCV001732066]|not specified [RCV001194122] Chr2:189007543 [GRCh38]
Chr2:189872269 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.4178T>G (p.Met1393Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175939] Chr2:189010814 [GRCh38]
Chr2:189875540 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2127T>A (p.Ala709=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175968] Chr2:188999475 [GRCh38]
Chr2:189864201 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1652C>T (p.Pro551Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176219]|not provided [RCV001772360] Chr2:188996168 [GRCh38]
Chr2:189860894 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1249G>C (p.Gly417Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001209569] Chr2:188994288 [GRCh38]
Chr2:189859014 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4012-13T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181713] Chr2:189010635 [GRCh38]
Chr2:189875361 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2256T>C (p.Asp752=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180781] Chr2:188999868 [GRCh38]
Chr2:189864594 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3027A>G (p.Glu1009=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180954] Chr2:189005445 [GRCh38]
Chr2:189870171 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3801C>G (p.Phe1267Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008589]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186202] Chr2:189009199 [GRCh38]
Chr2:189873925 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1197T>C (p.Gly399=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001505833]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186279] Chr2:188994236 [GRCh38]
Chr2:189858962 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3415A>G (p.Arg1139Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191059] Chr2:189007936 [GRCh38]
Chr2:189872662 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3364-9del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001191269] Chr2:189007874 [GRCh38]
Chr2:189872600 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.*508T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143528] Chr2:189012282 [GRCh38]
Chr2:189877008 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1465G>T (p.Gly489Trp) single nucleotide variant Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001196008] Chr2:188995055 [GRCh38]
Chr2:189859781 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3687C>T (p.Ile1229=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008413]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183788]|not provided [RCV001200439] Chr2:189009085 [GRCh38]
Chr2:189873811 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1872G>A (p.Gly624=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068171]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176715] Chr2:188997702 [GRCh38]
Chr2:189862428 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2392-8C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186389] Chr2:189002290 [GRCh38]
Chr2:189867016 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-13T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179177] Chr2:189007487 [GRCh38]
Chr2:189872213 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4118A>G (p.Lys1373Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001875927]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179223]|not provided [RCV001760132] Chr2:189010754 [GRCh38]
Chr2:189875480 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.667C>T (p.Pro223Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001359548]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179229] Chr2:188989426 [GRCh38]
Chr2:189854152 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-7T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179263] Chr2:188994031 [GRCh38]
Chr2:189858757 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1281G>A (p.Leu427=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633561]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179267] Chr2:188994320 [GRCh38]
Chr2:189859046 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2414C>G (p.Pro805Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191448] Chr2:189002320 [GRCh38]
Chr2:189867046 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4311G>C (p.Val1437=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002069152]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191455] Chr2:189011684 [GRCh38]
Chr2:189876410 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4088G>A (p.Arg1363Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001863038]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191499]|not provided [RCV001799742] Chr2:189010724 [GRCh38]
Chr2:189875450 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3290C>G (p.Thr1097Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010524]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191567] Chr2:189007534 [GRCh38]
Chr2:189872260 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.79+7A>T single nucleotide variant not specified [RCV002302614] Chr2:188974575 [GRCh38]
Chr2:189839301 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1283G>A (p.Arg428Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001873461]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806023]|not provided [RCV001093158] Chr2:188994322 [GRCh38]
Chr2:189859048 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002393351]|not provided [RCV001093159] Chr2:188995047 [GRCh38]
Chr2:189859773 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1201G>C (p.Ala401Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001875838]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177207]|not provided [RCV003142104] Chr2:188994240 [GRCh38]
Chr2:189858966 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001369968]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184689]|not specified [RCV001194120] Chr2:188999473 [GRCh38]
Chr2:189864199 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1609-11C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184900] Chr2:188996114 [GRCh38]
Chr2:189860840 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3258T>A (p.Gly1086=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177773] Chr2:189007502 [GRCh38]
Chr2:189872228 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3868A>C (p.Ile1290Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001065787]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806011] Chr2:189010222 [GRCh38]
Chr2:189874948 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3841C>G (p.Pro1281Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001241660]|not provided [RCV003325554] Chr2:189010195 [GRCh38]
Chr2:189874921 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1665A>T (p.Gly555=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186708] Chr2:188996400 [GRCh38]
Chr2:189861126 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2134C>T (p.Pro712Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179463] Chr2:188999482 [GRCh38]
Chr2:189864208 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.637-15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002067899]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179316] Chr2:188989381 [GRCh38]
Chr2:189854107 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.194T>C (p.Ile65Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191755] Chr2:188984874 [GRCh38]
Chr2:189849600 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.204C>A (p.Asp68Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192004] Chr2:188984884 [GRCh38]
Chr2:189849610 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.40G>A (p.Ala14Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002290616]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177894] Chr2:188974529 [GRCh38]
Chr2:189839255 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001228142] Chr2:189004321 [GRCh38]
Chr2:189869047 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3819G>A (p.Lys1273=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001469770] Chr2:189009217 [GRCh38]
Chr2:189873943 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001431917]|not provided [RCV003736939]|not specified [RCV001280642] Chr2:189004086 [GRCh38]
Chr2:189868812 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.840T>A (p.Ala280=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001472438] Chr2:188991045 [GRCh38]
Chr2:189855771 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.759A>G (p.Pro253=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV000934999]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182358] Chr2:188990321 [GRCh38]
Chr2:189855047 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2284-140A>G single nucleotide variant not provided [RCV001577176] Chr2:189001257 [GRCh38]
Chr2:189865983 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3525+203_3525+204del deletion not provided [RCV001556799] Chr2:189008342..189008343 [GRCh38]
Chr2:189873068..189873069 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.996+23T>C single nucleotide variant not provided [RCV001562316] Chr2:188992251 [GRCh38]
Chr2:189856977 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+97del deletion not provided [RCV001562381] Chr2:188989538 [GRCh38]
Chr2:189854264 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+107AT[23] microsatellite not provided [RCV001572496] Chr2:189007096..189007097 [GRCh38]
Chr2:189871822..189871823 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3039+63A>C single nucleotide variant not provided [RCV001677198] Chr2:189005520 [GRCh38]
Chr2:189870246 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.745-47G>C single nucleotide variant not provided [RCV001551615] Chr2:188990260 [GRCh38]
Chr2:189854986 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3836T>C (p.Val1279Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002466813] Chr2:189010190 [GRCh38]
Chr2:189874916 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1042G>A (p.Gly348Ser) single nucleotide variant not provided [RCV003231752] Chr2:188992932 [GRCh38]
Chr2:189857658 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3255+172GATA[9] microsatellite not provided [RCV001717862] Chr2:189007162..189007173 [GRCh38]
Chr2:189871888..189871899 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.996+94TA[6] microsatellite not provided [RCV001693598] Chr2:188992321..188992322 [GRCh38]
Chr2:189857047..189857048 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3255+172GATA[8] microsatellite not provided [RCV001560558] Chr2:189007162..189007177 [GRCh38]
Chr2:189871888..189871903 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.528+22C>T single nucleotide variant not provided [RCV001676395] Chr2:188987161 [GRCh38]
Chr2:189851887 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.635C>T (p.Ser212Leu) single nucleotide variant not provided [RCV001568911] Chr2:188988642 [GRCh38]
Chr2:189853368 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.951+23C>T single nucleotide variant not provided [RCV001569079] Chr2:188991745 [GRCh38]
Chr2:189856471 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.997-238C>T single nucleotide variant not provided [RCV001556114] Chr2:188992649 [GRCh38]
Chr2:189857375 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1859dup (p.Gly621fs) duplication not provided [RCV001008347] Chr2:188997374..188997375 [GRCh38]
Chr2:189862100..189862101 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACACA microsatellite not provided [RCV001541264] Chr2:188996303..188996304 [GRCh38]
Chr2:189861029..189861030 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.80-156A>G single nucleotide variant not provided [RCV001716852] Chr2:188984604 [GRCh38]
Chr2:189849330 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4254+79T>G single nucleotide variant not provided [RCV001674727] Chr2:189010969 [GRCh38]
Chr2:189875695 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.528+228C>A single nucleotide variant not provided [RCV001723239] Chr2:188987367 [GRCh38]
Chr2:189852093 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1662+106_1662+109del deletion not provided [RCV001687929] Chr2:188996281..188996284 [GRCh38]
Chr2:189861007..189861010 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-102_1663-99del deletion not provided [RCV001608421] Chr2:188996293..188996296 [GRCh38]
Chr2:189861019..189861022 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.753del (p.Gly252fs) deletion not provided [RCV001579563] Chr2:188990313 [GRCh38]
Chr2:189855039 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1662+95T>C single nucleotide variant not provided [RCV001620177] Chr2:188996273 [GRCh38]
Chr2:189860999 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1761+172TG[3] microsatellite not provided [RCV001637369] Chr2:188996668..188996669 [GRCh38]
Chr2:189861394..189861395 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-91C>T single nucleotide variant not provided [RCV001596047] Chr2:188996307 [GRCh38]
Chr2:189861033 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.690+256A>G single nucleotide variant not provided [RCV001596073] Chr2:188989705 [GRCh38]
Chr2:189854431 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1761+174T>A single nucleotide variant not provided [RCV001620217] Chr2:188996670 [GRCh38]
Chr2:189861396 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1662+106_1662+107del deletion not provided [RCV001620691] Chr2:188996283..188996284 [GRCh38]
Chr2:189861009..189861010 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-93T>C single nucleotide variant not provided [RCV001620230] Chr2:188996305 [GRCh38]
Chr2:189861031 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1662+72GT[9] microsatellite not provided [RCV001657040] Chr2:188996250..188996253 [GRCh38]
Chr2:189860976..189860979 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3407C>T (p.Ala1136Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633592]|not provided [RCV001658818] Chr2:189007928 [GRCh38]
Chr2:189872654 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2553+56T>A single nucleotide variant not provided [RCV001596028] Chr2:189003118 [GRCh38]
Chr2:189867844 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.4012-137T>G single nucleotide variant not provided [RCV001657345] Chr2:189010511 [GRCh38]
Chr2:189875237 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.997-1G>A single nucleotide variant not provided [RCV001659051] Chr2:188992886 [GRCh38]
Chr2:189857612 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3255+172GATA[5] microsatellite not provided [RCV001638475] Chr2:189007162..189007189 [GRCh38]
Chr2:189871888..189871915 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.429A>T (p.Ser143=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176368] Chr2:188985760 [GRCh38]
Chr2:189850486 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2148T>C (p.Pro716=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006324]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176750] Chr2:188999496 [GRCh38]
Chr2:189864222 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3570T>C (p.Pro1190=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184398] Chr2:189008968 [GRCh38]
Chr2:189873694 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.499GGA[1] (p.Gly168del) microsatellite Ehlers-Danlos syndrome, type 4 [RCV001876139]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184519]|not provided [RCV003225154] Chr2:188987109..188987111 [GRCh38]
Chr2:189851835..189851837 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.958C>T (p.Arg320Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006378]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177276] Chr2:188992190 [GRCh38]
Chr2:189856916 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2588G>A (p.Arg863His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001258143]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177385] Chr2:189003445 [GRCh38]
Chr2:189868171 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4089A>G (p.Arg1363=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180410] Chr2:189010725 [GRCh38]
Chr2:189875451 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2844G>A (p.Gly948=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001434073]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180432] Chr2:189004277 [GRCh38]
Chr2:189869003 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3114C>T (p.Gly1038=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001466680]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180433] Chr2:189006365 [GRCh38]
Chr2:189871091 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2614G>C (p.Ala872Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633562]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180436]|See cases [RCV002287479] Chr2:189003740 [GRCh38]
Chr2:189868466 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4100A>G (p.Asn1367Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559134]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187732] Chr2:189010736 [GRCh38]
Chr2:189875462 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1609-10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008734]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187765] Chr2:188996115 [GRCh38]
Chr2:189860841 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1801G>A (p.Gly601Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008737]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187796] Chr2:188997204 [GRCh38]
Chr2:189861930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.507C>G (p.Leu169=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002558856]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177660]|not provided [RCV003142106] Chr2:188987118 [GRCh38]
Chr2:189851844 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.283C>A (p.Pro95Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177790] Chr2:188985197 [GRCh38]
Chr2:189849923 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1176T>C (p.Pro392=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068492]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188137] Chr2:188994064 [GRCh38]
Chr2:189858790 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-13A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633575]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188223] Chr2:188997152 [GRCh38]
Chr2:189861878 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3102T>G (p.Arg1034=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143421] Chr2:189006353 [GRCh38]
Chr2:189871079 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3577C>T (p.Pro1193Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002226517]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185185] Chr2:189008975 [GRCh38]
Chr2:189873701 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.528+4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523069]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185300] Chr2:188987143 [GRCh38]
Chr2:189851869 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.825G>A (p.Lys275=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178028] Chr2:188991030 [GRCh38]
Chr2:189855756 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-11T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010271]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188260] Chr2:188994713 [GRCh38]
Chr2:189859439 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1003C>T (p.Pro335Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010272]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188271] Chr2:188992893 [GRCh38]
Chr2:189857619 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3837T>G (p.Val1279=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188478] Chr2:189010191 [GRCh38]
Chr2:189874917 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1225C>G (p.Leu409Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001304642]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188539] Chr2:188994264 [GRCh38]
Chr2:189858990 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1189G>T (p.Glu397Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001253763] Chr2:188994077 [GRCh38]
Chr2:189858803 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2310T>G (p.Pro770=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559738]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178143] Chr2:189001423 [GRCh38]
Chr2:189866149 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4255-5dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001185449] Chr2:189011617..189011618 [GRCh38]
Chr2:189876343..189876344 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2187A>G (p.Gly729=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001502266]|Familial thoracic aortic aneurysm and aortic dissection [RCV001188830] Chr2:188999535 [GRCh38]
Chr2:189864261 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.216A>G (p.Leu72=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189030] Chr2:188984896 [GRCh38]
Chr2:189849622 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val) single nucleotide variant not provided [RCV001093161] Chr2:189008925 [GRCh38]
Chr2:189873651 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3846C>T (p.Asn1282=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185611] Chr2:189010200 [GRCh38]
Chr2:189874926 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1456-15T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523071]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185711] Chr2:188995031 [GRCh38]
Chr2:189859757 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4341T>C (p.Tyr1447=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001401124]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185762] Chr2:189011714 [GRCh38]
Chr2:189876440 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3461G>C (p.Ser1154Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001862989]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189190]|not provided [RCV001773441] Chr2:189008078 [GRCh38]
Chr2:189872804 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3604G>A (p.Ala1202Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001068746] Chr2:189009002 [GRCh38]
Chr2:189873728 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1010C>T (p.Pro337Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178536] Chr2:188992900 [GRCh38]
Chr2:189857626 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.235A>G (p.Ile79Val) single nucleotide variant COL3A1-related disorder [RCV004528406]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185837] Chr2:188984915 [GRCh38]
Chr2:189849641 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1609-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185875] Chr2:188996120 [GRCh38]
Chr2:189860846 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3824-13T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185881] Chr2:189010165 [GRCh38]
Chr2:189874891 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3869T>C (p.Ile1290Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876177]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185925]|not provided [RCV003227926] Chr2:189010223 [GRCh38]
Chr2:189874949 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1229T>C (p.Met410Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185926] Chr2:188994268 [GRCh38]
Chr2:189858994 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.853-4C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181875] Chr2:188991483 [GRCh38]
Chr2:189856209 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.725G>A (p.Arg242Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633566]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181893] Chr2:188990130 [GRCh38]
Chr2:189854856 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202-5C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136855] Chr2:189006932 [GRCh38]
Chr2:189871658 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*600G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136952] Chr2:189012374 [GRCh38]
Chr2:189877100 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*740A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136954] Chr2:189012514 [GRCh38]
Chr2:189877240 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*828G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136955] Chr2:189012602 [GRCh38]
Chr2:189877328 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1455+4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001027814]|Ehlers-Danlos syndrome, type 4 [RCV003224509] Chr2:188994835 [GRCh38]
Chr2:189859561 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3255T>C (p.Pro1085=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178785] Chr2:189006990 [GRCh38]
Chr2:189871716 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.911C>T (p.Ala304Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184865] Chr2:188991682 [GRCh38]
Chr2:189856408 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3754G>A (p.Asp1252Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006430]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177996] Chr2:189009152 [GRCh38]
Chr2:189873878 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+4T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002560054]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189527] Chr2:188996182 [GRCh38]
Chr2:189860908 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1746T>C (p.Gly582=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001410325]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189682] Chr2:188996481 [GRCh38]
Chr2:189861207 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.205G>T (p.Asp69Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189701] Chr2:188984885 [GRCh38]
Chr2:189849611 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-9del deletion Ehlers-Danlos syndrome, type 4 [RCV004008582]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186139] Chr2:188996384 [GRCh38]
Chr2:189861110 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3093+5A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523072]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186200] Chr2:189006264 [GRCh38]
Chr2:189870990 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.716C>A (p.Pro239His) single nucleotide variant not specified [RCV001192744] Chr2:188990121 [GRCh38]
Chr2:189854847 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4143G>T (p.Gln1381His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559912]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185663] Chr2:189010779 [GRCh38]
Chr2:189875505 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4365A>G (p.Glu1455=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523070]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185667] Chr2:189011738 [GRCh38]
Chr2:189876464 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3344C>G (p.Pro1115Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010382]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189807] Chr2:189007588 [GRCh38]
Chr2:189872314 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1536A>C (p.Pro512=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010406]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190089] Chr2:188995718 [GRCh38]
Chr2:189860444 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.952-8C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190293] Chr2:188992176 [GRCh38]
Chr2:189856902 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2298T>G (p.Pro766=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523062]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170894] Chr2:189001411 [GRCh38]
Chr2:189866137 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3492G>A (p.Gly1164=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006518]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178972] Chr2:189008109 [GRCh38]
Chr2:189872835 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2353C>T (p.Pro785Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178990] Chr2:189001551 [GRCh38]
Chr2:189866277 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2230-5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633572]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186334] Chr2:188999837 [GRCh38]
Chr2:189864563 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1558G>A (p.Ala520Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006526]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179023] Chr2:188995740 [GRCh38]
Chr2:189860466 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2499A>T (p.Lys833Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186379] Chr2:189003008 [GRCh38]
Chr2:189867734 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3172G>A (p.Ala1058Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182646] Chr2:189006423 [GRCh38]
Chr2:189871149 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2117G>A (p.Gly706Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876222]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190319] Chr2:188999379 [GRCh38]
Chr2:189864105 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.607C>T (p.Pro203Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190320] Chr2:188988614 [GRCh38]
Chr2:189853340 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3816C>G (p.Leu1272=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190337] Chr2:189009214 [GRCh38]
Chr2:189873940 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3478A>G (p.Ile1160Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190355] Chr2:189008095 [GRCh38]
Chr2:189872821 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1712C>A (p.Pro571His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190532] Chr2:188996447 [GRCh38]
Chr2:189861173 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.982A>G (p.Ser328Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010446]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190599] Chr2:188992214 [GRCh38]
Chr2:189856940 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2305C>T (p.Pro769Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190763] Chr2:189001418 [GRCh38]
Chr2:189866144 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1329C>T (p.Pro443=) single nucleotide variant Ehlers-Danlos syndrome [RCV002276655]|Ehlers-Danlos syndrome, type 4 [RCV003633570]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184013] Chr2:188994576 [GRCh38]
Chr2:189859302 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4353T>C (p.Gly1451=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006373]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177221] Chr2:189011726 [GRCh38]
Chr2:189876452 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.884C>T (p.Ala295Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002290622]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186412]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001197892] Chr2:188991518 [GRCh38]
Chr2:189856244 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3658T>A (p.Tyr1220Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179178] Chr2:189009056 [GRCh38]
Chr2:189873782 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4174C>T (p.Leu1392=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002560887]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186502] Chr2:189010810 [GRCh38]
Chr2:189875536 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1195-3T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183009] Chr2:188994231 [GRCh38]
Chr2:189858957 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3321A>G (p.Gly1107=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559825]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183203] Chr2:189007565 [GRCh38]
Chr2:189872291 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1590T>C (p.Pro530=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008375]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183381] Chr2:188995772 [GRCh38]
Chr2:189860498 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3565C>T (p.Pro1189Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001243505]|Familial thoracic aortic aneurysm and aortic dissection [RCV001190771] Chr2:189008963 [GRCh38]
Chr2:189873689 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1729G>A (p.Val577Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190999] Chr2:188996464 [GRCh38]
Chr2:189861190 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.819A>G (p.Gly273=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001439837]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191170] Chr2:188991024 [GRCh38]
Chr2:189855750 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3637G>C (p.Ala1213Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184654] Chr2:189009035 [GRCh38]
Chr2:189873761 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.956C>T (p.Ala319Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523064]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179246] Chr2:188992188 [GRCh38]
Chr2:189856914 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.118G>A (p.Ala40Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633573]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186553] Chr2:188984798 [GRCh38]
Chr2:189849524 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3964G>C (p.Glu1322Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179417] Chr2:189010318 [GRCh38]
Chr2:189875044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.659C>T (p.Ala220Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183621] Chr2:188989418 [GRCh38]
Chr2:189854144 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3800T>C (p.Phe1267Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002497625]|Ehlers-Danlos syndrome, type 4 [RCV004006481]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178461] Chr2:189009198 [GRCh38]
Chr2:189873924 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3596G>T (p.Gly1199Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010494]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191217] Chr2:189008994 [GRCh38]
Chr2:189873720 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.885T>C (p.Ala295=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191246] Chr2:188991519 [GRCh38]
Chr2:189856245 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3821G>A (p.Ser1274Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191259] Chr2:189009219 [GRCh38]
Chr2:189873945 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3224C>T (p.Ala1075Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523077]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191263]|not provided [RCV001773444] Chr2:189006959 [GRCh38]
Chr2:189871685 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1294-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191432] Chr2:188994538 [GRCh38]
Chr2:189859264 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2756T>G (p.Val919Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191435] Chr2:189004076 [GRCh38]
Chr2:189868802 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4131A>C (p.Ala1377=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633578]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191438] Chr2:189010767 [GRCh38]
Chr2:189875493 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.3(COL3A1):c.2933del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001171062] Chr2:189005349 [GRCh38]
Chr2:189870075 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3057T>C (p.Asp1019=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633565]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181590]|not provided [RCV004546610] Chr2:189006223 [GRCh38]
Chr2:189870949 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2766A>C (p.Pro922=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002067900]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179456] Chr2:189004086 [GRCh38]
Chr2:189868812 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.229C>T (p.Pro77Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002558911]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179457] Chr2:188984909 [GRCh38]
Chr2:189849635 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068245]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179483] Chr2:189007488 [GRCh38]
Chr2:189872214 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.431G>A (p.Cys144Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001186791] Chr2:188985762 [GRCh38]
Chr2:189850488 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3643G>A (p.Gly1215Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001875965]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179996] Chr2:189009041 [GRCh38]
Chr2:189873767 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1480G>T (p.Ala494Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179998] Chr2:188995070 [GRCh38]
Chr2:189859796 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3745A>G (p.Ile1249Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001242390]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180063] Chr2:189009143 [GRCh38]
Chr2:189873869 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2565T>C (p.Gly855=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523065]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180143] Chr2:189003422 [GRCh38]
Chr2:189868148 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.929G>A (p.Arg310Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002504214]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191694]|not provided [RCV001760148] Chr2:188991700 [GRCh38]
Chr2:189856426 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.497T>A (p.Val166Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002560992]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191970] Chr2:188987108 [GRCh38]
Chr2:189851834 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3975C>T (p.His1325=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633574]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186848] Chr2:189010329 [GRCh38]
Chr2:189875055 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1043G>C (p.Gly348Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002483976]|Familial thoracic aortic aneurysm and aortic dissection [RCV001179687] Chr2:188992933 [GRCh38]
Chr2:189857659 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3430C>T (p.Pro1144Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008335]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182911] Chr2:189008047 [GRCh38]
Chr2:189872773 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978-13G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523078]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192069] Chr2:188998661 [GRCh38]
Chr2:189863387 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.280G>T (p.Ala94Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876244]|Familial thoracic aortic aneurysm and aortic dissection [RCV001192143] Chr2:188984960 [GRCh38]
Chr2:189849686 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3101G>T (p.Arg1034Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176661] Chr2:189006352 [GRCh38]
Chr2:189871078 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1765G>A (p.Ala589Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633558]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176695] Chr2:188997168 [GRCh38]
Chr2:189861894 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3873G>A (p.Lys1291=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001479696]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176755] Chr2:189010227 [GRCh38]
Chr2:189874953 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4253C>T (p.Thr1418Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006350]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176992] Chr2:189010889 [GRCh38]
Chr2:189875615 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.607C>G (p.Pro203Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184449] Chr2:188988614 [GRCh38]
Chr2:189853340 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2229+6G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001366714]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182191] Chr2:188999583 [GRCh38]
Chr2:189864309 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3425T>G (p.Val1142Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179721] Chr2:189008042 [GRCh38]
Chr2:189872768 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1609G>A (p.Gly537Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187041] Chr2:188996125 [GRCh38]
Chr2:189860851 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4025A>G (p.Asn1342Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002484023]|Ehlers-Danlos syndrome, type 4 [RCV002559963]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187043] Chr2:189010661 [GRCh38]
Chr2:189875387 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.50A>T (p.His17Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001337496]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187073] Chr2:188974539 [GRCh38]
Chr2:189839265 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3845A>G (p.Asn1282Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008665]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187085] Chr2:189010199 [GRCh38]
Chr2:189874925 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1652C>G (p.Pro551Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523073]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187093] Chr2:188996168 [GRCh38]
Chr2:189860894 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1545A>G (p.Ala515=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001438227]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177270] Chr2:188995727 [GRCh38]
Chr2:189860453 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1513C>G (p.Pro505Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184614] Chr2:188995695 [GRCh38]
Chr2:189860421 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.799-11A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001141480]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180060] Chr2:188990993 [GRCh38]
Chr2:189855719 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.969C>T (p.Asp323=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068318]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182518] Chr2:188992201 [GRCh38]
Chr2:189856927 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1513C>T (p.Pro505Ser) single nucleotide variant COL3A1-related disorder [RCV004538418]|Ehlers-Danlos syndrome, type 4 [RCV004008674]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187142] Chr2:188995695 [GRCh38]
Chr2:189860421 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.605C>T (p.Pro202Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179927] Chr2:188988612 [GRCh38]
Chr2:189853338 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2720C>T (p.Pro907Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187183] Chr2:189004040 [GRCh38]
Chr2:189868766 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.529-4C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187197] Chr2:188988077 [GRCh38]
Chr2:189852803 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2440G>A (p.Ala814Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008681]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187200] Chr2:189002346 [GRCh38]
Chr2:189867072 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.74A>G (p.Gln25Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002559122]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187218] Chr2:188974563 [GRCh38]
Chr2:189839289 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3676G>A (p.Asp1226Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180157] Chr2:189009074 [GRCh38]
Chr2:189873800 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.300T>A (p.Asn100Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180158] Chr2:188985214 [GRCh38]
Chr2:189849940 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4233A>G (p.Thr1411=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180174] Chr2:189010869 [GRCh38]
Chr2:189875595 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4080C>A (p.Leu1360=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180179] Chr2:189010716 [GRCh38]
Chr2:189875442 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2461C>A (p.Pro821Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001141595]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186777] Chr2:189002970 [GRCh38]
Chr2:189867696 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2023-12T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182691] Chr2:188999273 [GRCh38]
Chr2:189863999 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1125A>T (p.Gly375=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182849] Chr2:188993435 [GRCh38]
Chr2:189858161 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+96A>G single nucleotide variant not provided [RCV001682516] Chr2:188996274 [GRCh38]
Chr2:189861000 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3732A>G (p.Gln1244=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001061710] Chr2:189009130 [GRCh38]
Chr2:189873856 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1195-32C>T single nucleotide variant not provided [RCV001588603] Chr2:188994202 [GRCh38]
Chr2:189858928 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1870-49T>C single nucleotide variant not provided [RCV001671837] Chr2:188997651 [GRCh38]
Chr2:189862377 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3497G>A (p.Arg1166Gln) single nucleotide variant Ehlers-Danlos syndrome [RCV002276609]|Ehlers-Danlos syndrome, type 4 [RCV001067126]|Ehlers-Danlos syndrome, type 4 [RCV002480426]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187699]|not provided [RCV001732033] Chr2:189008114 [GRCh38]
Chr2:189872840 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1051-94T>C single nucleotide variant not provided [RCV001683990] Chr2:188993267 [GRCh38]
Chr2:189857993 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3537C>T (p.Gly1179=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181508] Chr2:189008935 [GRCh38]
Chr2:189873661 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.853-10A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181657] Chr2:188991477 [GRCh38]
Chr2:189856203 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3418-5C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001063263] Chr2:189008030 [GRCh38]
Chr2:189872756 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3913G>T (p.Ala1305Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523067]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181702] Chr2:189010267 [GRCh38]
Chr2:189874993 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-216A>C single nucleotide variant not provided [RCV001713449] Chr2:189011412 [GRCh38]
Chr2:189876138 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2553+94C>T single nucleotide variant not provided [RCV001611365] Chr2:189003156 [GRCh38]
Chr2:189867882 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.528+227dup duplication not provided [RCV001724991] Chr2:188987355..188987356 [GRCh38]
Chr2:189852081..189852082 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1978-124T>C single nucleotide variant not provided [RCV001584802] Chr2:188998550 [GRCh38]
Chr2:189863276 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+92G>A single nucleotide variant not provided [RCV001679291] Chr2:188996270 [GRCh38]
Chr2:189860996 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_000090.4(COL3A1):c.3255+107AT[15] microsatellite not provided [RCV001650714] Chr2:189007097..189007110 [GRCh38]
Chr2:189871823..189871836 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-92AC[12] microsatellite not provided [RCV001614984] Chr2:188996305..188996306 [GRCh38]
Chr2:189861031..189861032 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002568159]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528309]|not provided [RCV001529094] Chr2:188991026 [GRCh38]
Chr2:189855752 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1133G>A (p.Gly378Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001219405] Chr2:188993443 [GRCh38]
Chr2:189858169 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.333+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001039328]|Familial thoracic aortic aneurysm and aortic dissection [RCV004031097] Chr2:188985251 [GRCh38]
Chr2:189849977 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs) duplication Ehlers-Danlos syndrome, type 4 [RCV001204750] Chr2:189011694..189011695 [GRCh38]
Chr2:189876420..189876421 [GRCh37]
Chr2:2q32.2		 pathogenic|uncertain significance
NM_000090.4(COL3A1):c.913C>T (p.Pro305Ser) single nucleotide variant COL3A1-related disorder [RCV004536093]|Ehlers-Danlos syndrome, type 4 [RCV001048245] Chr2:188991684 [GRCh38]
Chr2:189856410 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1288G>A (p.Gly430Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001235918]|not provided [RCV001773534] Chr2:188994327 [GRCh38]
Chr2:189859053 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1873C>T (p.Pro625Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001049697]|not provided [RCV001824407] Chr2:188997703 [GRCh38]
Chr2:189862429 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001049776] Chr2:189006372 [GRCh38]
Chr2:189871098 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.862G>T (p.Gly288Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001249611] Chr2:188991496 [GRCh38]
Chr2:189856222 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.*643G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136953] Chr2:189012417 [GRCh38]
Chr2:189877143 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3476C>T (p.Pro1159Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001202520]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528278] Chr2:189008093 [GRCh38]
Chr2:189872819 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001050941] Chr2:188996170 [GRCh38]
Chr2:189860896 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.*72A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001141705] Chr2:189011846 [GRCh38]
Chr2:189876572 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3992C>A (p.Ser1331Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001235003] Chr2:189010346 [GRCh38]
Chr2:189875072 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2240G>A (p.Gly747Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001043150] Chr2:188999852 [GRCh38]
Chr2:189864578 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3763C>T (p.Arg1255Cys) single nucleotide variant COL3A1-related disorder [RCV004538410]|Ehlers-Danlos syndrome, type 4 [RCV004006717]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181091] Chr2:189009161 [GRCh38]
Chr2:189873887 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.1870-14T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523066]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181253] Chr2:188997686 [GRCh38]
Chr2:189862412 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_000090.4(COL3A1):c.2981C>T (p.Pro994Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633563]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181217]|not provided [RCV001799740] Chr2:189005399 [GRCh38]
Chr2:189870125 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2338-7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004006747]|Familial thoracic aortic aneurysm and aortic dissection [RCV001181587] Chr2:189001529 [GRCh38]
Chr2:189866255 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.591A>G (p.Pro197=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182046] Chr2:188988598 [GRCh38]
Chr2:189853324 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1923+3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181601] Chr2:188997756 [GRCh38]
Chr2:189862482 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3964G>A (p.Glu1322Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633568]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183868] Chr2:189010318 [GRCh38]
Chr2:189875044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2980C>G (p.Pro994Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001243247]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183890] Chr2:189005398 [GRCh38]
Chr2:189870124 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1895C>A (p.Thr632Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001214729]|Ehlers-Danlos syndrome, type 4 [RCV002484174]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806053] Chr2:188997725 [GRCh38]
Chr2:189862451 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2749C>T (p.Pro917Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143420] Chr2:189004069 [GRCh38]
Chr2:189868795 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4189G>A (p.Glu1397Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001218480] Chr2:189010825 [GRCh38]
Chr2:189875551 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3214C>T (p.Pro1072Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001038448] Chr2:189006949 [GRCh38]
Chr2:189871675 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4043A>G (p.Asp1348Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001236529]|Ehlers-Danlos syndrome, type 4 [RCV002480774] Chr2:189010679 [GRCh38]
Chr2:189875405 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1550C>G (p.Pro517Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001046993]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184705]|not provided [RCV001540793] Chr2:188995732 [GRCh38]
Chr2:189860458 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3262C>G (p.Gln1088Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001047155]|Familial thoracic aortic aneurysm and aortic dissection [RCV001189774] Chr2:189007506 [GRCh38]
Chr2:189872232 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2900C>A (p.Pro967His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181418] Chr2:189004333 [GRCh38]
Chr2:189869059 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.305A>T (p.Gln102Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182162] Chr2:188985219 [GRCh38]
Chr2:189849945 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1A>T (p.Met1Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001231945] Chr2:188974490 [GRCh38]
Chr2:189839216 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2433C>T (p.Phe811=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002068327]|Familial thoracic aortic aneurysm and aortic dissection [RCV001182669] Chr2:189002339 [GRCh38]
Chr2:189867065 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln) single nucleotide variant not specified [RCV001175532] Chr2:188974565 [GRCh38]
Chr2:189839291 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3642C>T (p.Gly1214=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182873] Chr2:189009040 [GRCh38]
Chr2:189873766 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3764G>T (p.Arg1255Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002497611]|Ehlers-Danlos syndrome, type 4 [RCV002559682]|Familial thoracic aortic aneurysm and aortic dissection [RCV001175709] Chr2:189009162 [GRCh38]
Chr2:189873888 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1980T>A (p.Gly660=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001027818]|Ehlers-Danlos syndrome, type 4 [RCV003224511] Chr2:188998676 [GRCh38]
Chr2:189863402 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-14G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008380]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183423] Chr2:189011614 [GRCh38]
Chr2:189876340 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1264A>G (p.Asn422Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004000330]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176227] Chr2:188994303 [GRCh38]
Chr2:189859029 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3803G>C (p.Cys1268Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176964] Chr2:189009201 [GRCh38]
Chr2:189873927 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-11C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184427] Chr2:189011617 [GRCh38]
Chr2:189876343 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.*906C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001136956] Chr2:189012680 [GRCh38]
Chr2:189877406 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2098C>T (p.Pro700Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001876155]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184816] Chr2:188999360 [GRCh38]
Chr2:189864086 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4384C>T (p.Pro1462Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171064] Chr2:189011757 [GRCh38]
Chr2:189876483 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.739C>A (p.Pro247Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185195] Chr2:188990144 [GRCh38]
Chr2:189854870 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.474T>C (p.Tyr158=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177943] Chr2:188987085 [GRCh38]
Chr2:189851811 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4356T>C (p.Pro1452=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178220] Chr2:189011729 [GRCh38]
Chr2:189876455 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2605C>A (p.Pro869Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001239669]|Familial thoracic aortic aneurysm and aortic dissection [RCV001185767] Chr2:189003462 [GRCh38]
Chr2:189868188 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.946G>T (p.Ala316Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001042766]|Familial thoracic aortic aneurysm and aortic dissection [RCV001191595]|not provided [RCV003106092]|not specified [RCV001002455] Chr2:188991717 [GRCh38]
Chr2:189856443 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2823+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180525] Chr2:189004148 [GRCh38]
Chr2:189868874 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser) single nucleotide variant Ehlers-Danlos syndrome, dominant type 4 [RCV003994240]|Ehlers-Danlos syndrome, type 4 [RCV001233702]|Ehlers-Danlos syndrome, type 4 [RCV002497798]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528280] Chr2:189007515 [GRCh38]
Chr2:189872241 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1442del (p.Ala481fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001233148] Chr2:188994818 [GRCh38]
Chr2:189859544 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143319]|Familial thoracic aortic aneurysm and aortic dissection [RCV001183793] Chr2:188994594 [GRCh38]
Chr2:189859320 [GRCh37]
Chr2:2q32.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.*413T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001143527] Chr2:189012187 [GRCh38]
Chr2:189876913 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1437A>G (p.Pro479=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001455484]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170891] Chr2:188994813 [GRCh38]
Chr2:189859539 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2114_2121+2del deletion Inborn genetic diseases [RCV001265832] Chr2:188999376..188999385 [GRCh38]
Chr2:189864102..189864111 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001254944] Chr2:189003992 [GRCh38]
Chr2:189868718 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1244C>A (p.Pro415His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001258142] Chr2:188994283 [GRCh38]
Chr2:189859009 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_000090.4(COL3A1):c.1815+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001294889] Chr2:188997224 [GRCh38]
Chr2:189861950 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3369T>C (p.Pro1123=) single nucleotide variant not provided [RCV001311570] Chr2:189007890 [GRCh38]
Chr2:189872616 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2259_2260delinsGA (p.Val754Ile) indel Familial thoracic aortic aneurysm and aortic dissection [RCV001804360] Chr2:188999871..188999872 [GRCh38]
Chr2:189864597..189864598 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1359T>C (p.Gly453=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633599]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804363] Chr2:188994735 [GRCh38]
Chr2:189859461 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_000090.4(COL3A1):c.1022C>A (p.Ala341Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001258141] Chr2:188992912 [GRCh38]
Chr2:189857638 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
NM_000090.4(COL3A1):c.959G>A (p.Arg320Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002542381]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804351] Chr2:188992191 [GRCh38]
Chr2:189856917 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4306G>C (p.Ala1436Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001301326]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525421]|not provided [RCV001560494] Chr2:189011679 [GRCh38]
Chr2:189876405 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2317G>T (p.Ala773Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001351048] Chr2:189001430 [GRCh38]
Chr2:189866156 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2962C>T (p.Leu988Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001295886] Chr2:189005380 [GRCh38]
Chr2:189870106 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.625G>A (p.Ala209Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001314300] Chr2:188988632 [GRCh38]
Chr2:189853358 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3690C>G (p.Asn1230Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001340467]|not provided [RCV001762565] Chr2:189009088 [GRCh38]
Chr2:189873814 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2539G>A (p.Gly847Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001340953] Chr2:189003048 [GRCh38]
Chr2:189867774 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1904C>T (p.Pro635Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002476544]|Ehlers-Danlos syndrome, type 4 [RCV002546432]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV001330975] Chr2:188997734 [GRCh38]
Chr2:189862460 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2963T>C (p.Leu988Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001330976] Chr2:189005381 [GRCh38]
Chr2:189870107 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.707C>G (p.Pro236Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001324538] Chr2:188990112 [GRCh38]
Chr2:189854838 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1011T>A (p.Pro337=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002341622]|not provided [RCV001311565] Chr2:188992901 [GRCh38]
Chr2:189857627 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.990T>C (p.Gly330=) single nucleotide variant not provided [RCV001311564] Chr2:188992222 [GRCh38]
Chr2:189856948 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2172G>T (p.Leu724=) single nucleotide variant not provided [RCV001311568] Chr2:188999520 [GRCh38]
Chr2:189864246 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2121+4del deletion Ehlers-Danlos syndrome, type 4 [RCV001374292] Chr2:188999386 [GRCh38]
Chr2:189864112 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2418A>G (p.Pro806=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001414538] Chr2:189002324 [GRCh38]
Chr2:189867050 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3872A>C (p.Lys1291Thr) single nucleotide variant Isolated thoracic aortic aneurysm [RCV001374777] Chr2:189010226 [GRCh38]
Chr2:189874952 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.386C>T (p.Pro129Leu) single nucleotide variant Isolated thoracic aortic aneurysm [RCV001374774] Chr2:188985717 [GRCh38]
Chr2:189850443 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1029C>G (p.Phe343Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001359547] Chr2:188992919 [GRCh38]
Chr2:189857645 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3201+10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001413879] Chr2:189006462 [GRCh38]
Chr2:189871188 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001382921] Chr2:189003003 [GRCh38]
Chr2:189867729 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2784A>C (p.Gln928His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001359116] Chr2:189004104 [GRCh38]
Chr2:189868830 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2237C>G (p.Pro746Arg) single nucleotide variant not specified [RCV001358767] Chr2:188999849 [GRCh38]
Chr2:189864575 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1139A>G (p.Gln380Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001333195] Chr2:188993449 [GRCh38]
Chr2:189858175 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.334-3T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001360492] Chr2:188985662 [GRCh38]
Chr2:189850388 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3001C>G (p.Pro1001Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001359511]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525458] Chr2:189005419 [GRCh38]
Chr2:189870145 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4011+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001303874] Chr2:189010368 [GRCh38]
Chr2:189875094 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1608+6G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001344687] Chr2:188995796 [GRCh38]
Chr2:189860522 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2181G>A (p.Met727Ile) single nucleotide variant Isolated thoracic aortic aneurysm [RCV001374775] Chr2:188999529 [GRCh38]
Chr2:189864255 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3259C>T (p.Pro1087Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001321582] Chr2:189007503 [GRCh38]
Chr2:189872229 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1235C>A (p.Ala412Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001314544] Chr2:188994274 [GRCh38]
Chr2:189859000 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2983C>T (p.Pro995Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001309510] Chr2:189005401 [GRCh38]
Chr2:189870127 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3446G>A (p.Gly1149Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001289546] Chr2:189008063 [GRCh38]
Chr2:189872789 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.80-489_3525+120del deletion Megacolon [RCV001290045] Chr2:188984271..189008262 [GRCh38]
Chr2:189848997..189872988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3529T>A (p.Ser1177Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001337977] Chr2:189008927 [GRCh38]
Chr2:189873653 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4351G>C (p.Gly1451Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001349502] Chr2:189011724 [GRCh38]
Chr2:189876450 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3451G>A (p.Asp1151Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001346057] Chr2:189008068 [GRCh38]
Chr2:189872794 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3093G>A (p.Lys1031=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001298151] Chr2:189006259 [GRCh38]
Chr2:189870985 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3839A>C (p.Asp1280Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001369129] Chr2:189010193 [GRCh38]
Chr2:189874919 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4205C>A (p.Ala1402Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001341546] Chr2:189010841 [GRCh38]
Chr2:189875567 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1238G>A (p.Arg413Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001323698]|Ehlers-Danlos syndrome, type 4 [RCV002476524]|not provided [RCV001586127]|not specified [RCV003994266] Chr2:188994277 [GRCh38]
Chr2:189859003 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4108T>C (p.Tyr1370His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001366552] Chr2:189010744 [GRCh38]
Chr2:189875470 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1149+7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633582]|not provided [RCV001812483] Chr2:188993466 [GRCh38]
Chr2:189858192 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2716G>A (p.Gly906Ser) single nucleotide variant not provided [RCV001269981] Chr2:189004036 [GRCh38]
Chr2:189868762 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4345A>C (p.Ile1449Leu) single nucleotide variant not provided [RCV001355341] Chr2:189011718 [GRCh38]
Chr2:189876444 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.24G>A (p.Gly8=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001396212]|not provided [RCV003438758] Chr2:188974513 [GRCh38]
Chr2:189839239 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.948T>A (p.Ala316=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001317474] Chr2:188991719 [GRCh38]
Chr2:189856445 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.96T>C (p.Cys32=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524212] Chr2:188984776 [GRCh38]
Chr2:189849502 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3418-15A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002568083]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524932] Chr2:189008020 [GRCh38]
Chr2:189872746 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.209A>G (p.Gln70Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525156] Chr2:188984889 [GRCh38]
Chr2:189849615 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2371G>T (p.Ala791Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525160]|not provided [RCV001762716] Chr2:189001569 [GRCh38]
Chr2:189866295 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1762-6C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001501956] Chr2:188997159 [GRCh38]
Chr2:189861885 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1590T>A (p.Pro530=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525258] Chr2:188995772 [GRCh38]
Chr2:189860498 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4384C>A (p.Pro1462Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008856]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525584] Chr2:189011757 [GRCh38]
Chr2:189876483 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4275C>G (p.Ser1425Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002295345]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525588] Chr2:189011648 [GRCh38]
Chr2:189876374 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3281A>G (p.Lys1094Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525650] Chr2:189007525 [GRCh38]
Chr2:189872251 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3418-5C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525676] Chr2:189008030 [GRCh38]
Chr2:189872756 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3221G>A (p.Gly1074Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001378374] Chr2:189006956 [GRCh38]
Chr2:189871682 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1164T>C (p.Ile388=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001475342] Chr2:188994052 [GRCh38]
Chr2:189858778 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1383_1384delinsTA (p.Lys461_Gly462delinsAsnSer) indel Familial thoracic aortic aneurysm and aortic dissection [RCV001526135] Chr2:188994759..188994760 [GRCh38]
Chr2:189859485..189859486 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2397G>A (p.Glu799=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001425430] Chr2:189002303 [GRCh38]
Chr2:189867029 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+9C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001486235] Chr2:188998328 [GRCh38]
Chr2:189863054 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2284-4C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001430923] Chr2:189001393 [GRCh38]
Chr2:189866119 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3696T>C (p.Asp1232=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001469297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002350955] Chr2:189009094 [GRCh38]
Chr2:189873820 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.542C>T (p.Pro181Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633587]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524236] Chr2:188988094 [GRCh38]
Chr2:189852820 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2152_2153delinsTT (p.Ala718Phe) indel Ehlers-Danlos syndrome, type 4 [RCV003633588]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524237] Chr2:188999500..188999501 [GRCh38]
Chr2:189864226..189864227 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.748A>G (p.Ile250Val) single nucleotide variant not provided [RCV001536207] Chr2:188990310 [GRCh38]
Chr2:189855036 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.561A>C (p.Thr187=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524559] Chr2:188988113 [GRCh38]
Chr2:189852839 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1149+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001872045]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524690] Chr2:188993462 [GRCh38]
Chr2:189858188 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.599A>C (p.Gln200Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002568792]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524694] Chr2:188988606 [GRCh38]
Chr2:189853332 [GRCh37]
Chr2:2q32.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.3525+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008802]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524875]|not provided [RCV001847295] Chr2:189008147 [GRCh38]
Chr2:189872873 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1038C>T (p.Ser346=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008808]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524944] Chr2:188992928 [GRCh38]
Chr2:189857654 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1090G>T (p.Ala364Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524945] Chr2:188993400 [GRCh38]
Chr2:189858126 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1978-12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002568084]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524985] Chr2:188998662 [GRCh38]
Chr2:189863388 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001390725] Chr2:189001397 [GRCh38]
Chr2:189866123 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1023C>T (p.Ala341=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002070319]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525166] Chr2:188992913 [GRCh38]
Chr2:189857639 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1924-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525182] Chr2:188998261 [GRCh38]
Chr2:189862987 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2932-6A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001491835] Chr2:189005344 [GRCh38]
Chr2:189870070 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1152C>T (p.Gly384=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001478118]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528306] Chr2:188994040 [GRCh38]
Chr2:189858766 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.947C>T (p.Ala316Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526257] Chr2:188991718 [GRCh38]
Chr2:189856444 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189856193)_(189856974_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV001388020] Chr2:189856193..189856974 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys) single nucleotide variant Ehlers-Danlos syndrome [RCV002276721]|Ehlers-Danlos syndrome, type 4 [RCV001384794] Chr2:188999306 [GRCh38]
Chr2:189864032 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1762-150ATATATATATGAGAC[4] microsatellite not provided [RCV001539995] Chr2:188997015..188997044 [GRCh38]
Chr2:189861741..189861770 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.972T>C (p.Gly324=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001407070] Chr2:188992204 [GRCh38]
Chr2:189856930 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+94A>G single nucleotide variant not provided [RCV001540435] Chr2:188996272 [GRCh38]
Chr2:189860998 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1548G>A (p.Gly516=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001402234] Chr2:188995730 [GRCh38]
Chr2:189860456 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del) deletion Ehlers-Danlos syndrome, type 4 [RCV001376803] Chr2:188989404..188989421 [GRCh38]
Chr2:189854130..189854147 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001399440]|Familial thoracic aortic aneurysm and aortic dissection [RCV003169990]|not specified [RCV001797838] Chr2:188995739 [GRCh38]
Chr2:189860465 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001449190] Chr2:188995688 [GRCh38]
Chr2:189860414 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg) single nucleotide variant not specified [RCV001532982] Chr2:189005368 [GRCh38]
Chr2:189870094 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189852801)_(189855789_?)dup duplication Ehlers-Danlos syndrome, type 4 [RCV001378512] Chr2:189852801..189855789 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.691-9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001419311] Chr2:188990087 [GRCh38]
Chr2:189854813 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1322G>A (p.Gly441Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001378557] Chr2:188994569 [GRCh38]
Chr2:189859295 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3492G>T (p.Gly1164=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001427181] Chr2:189008109 [GRCh38]
Chr2:189872835 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1329C>A (p.Pro443=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001448244] Chr2:188994576 [GRCh38]
Chr2:189859302 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2928C>A (p.Val976=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001438358] Chr2:189004361 [GRCh38]
Chr2:189869087 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4377C>T (p.Asp1459=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001427553]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329474] Chr2:189011750 [GRCh38]
Chr2:189876476 [GRCh37]
Chr2:2q32.2		 likely benign
NC_000002.11:g.(?_189839206)_(189950508_?)del deletion Ehlers-Danlos syndrome, classic type, 1 [RCV003154027]|Ehlers-Danlos syndrome, type 4 [RCV001388019] Chr2:189839206..189950508 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3531C>T (p.Ser1177=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001409365] Chr2:189008929 [GRCh38]
Chr2:189873655 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4155T>C (p.Asn1385=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004039246]|not provided [RCV001538734] Chr2:189010791 [GRCh38]
Chr2:189875517 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.507C>T (p.Leu169=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523094]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525040] Chr2:188987118 [GRCh38]
Chr2:189851844 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2072C>T (p.Ala691Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002495843]|Ehlers-Danlos syndrome, type 4 [RCV004008847]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525468] Chr2:188999334 [GRCh38]
Chr2:189864060 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3255+107AT[9] microsatellite not provided [RCV001714877] Chr2:189007097..189007122 [GRCh38]
Chr2:189871823..189871848 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1662+91_1662+92insAT insertion not provided [RCV001695168] Chr2:188996268..188996269 [GRCh38]
Chr2:189860994..189860995 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2974C>A (p.Arg992Ser) single nucleotide variant COL3A1-related disorder [RCV004541978]|Ehlers-Danlos syndrome, type 4 [RCV002488346]|Ehlers-Danlos syndrome, type 4 [RCV004008892]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526156] Chr2:189005392 [GRCh38]
Chr2:189870118 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4135A>T (p.Met1379Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008894]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526166] Chr2:189010771 [GRCh38]
Chr2:189875497 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.567T>C (p.Gly189=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002071887]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526168] Chr2:188988119 [GRCh38]
Chr2:189852845 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001526391] Chr2:188985227..188985234 [GRCh38]
Chr2:189849953..189849960 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3249T>G (p.Gly1083=) single nucleotide variant not provided [RCV001586521] Chr2:189006984 [GRCh38]
Chr2:189871710 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+172GATA[11] microsatellite not provided [RCV001640804] Chr2:189007162..189007165 [GRCh38]
Chr2:189871888..189871891 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3702T>C (p.Ile1234=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001503203] Chr2:189009100 [GRCh38]
Chr2:189873826 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+80A>G single nucleotide variant not provided [RCV001651768] Chr2:188990440 [GRCh38]
Chr2:189855166 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.852+160G>A single nucleotide variant not provided [RCV001675239] Chr2:188991217 [GRCh38]
Chr2:189855943 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.1663-108_1663-99del deletion not provided [RCV001667402] Chr2:188996287..188996296 [GRCh38]
Chr2:189861013..189861022 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2230-10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001500489] Chr2:188999832 [GRCh38]
Chr2:189864558 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2391+130A>G single nucleotide variant not provided [RCV001590903] Chr2:189001719 [GRCh38]
Chr2:189866445 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+72GT[10] microsatellite not provided [RCV001685003] Chr2:188996250..188996251 [GRCh38]
Chr2:189860976..189860977 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2301T>C (p.Ile767=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001466878]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528304] Chr2:189001414 [GRCh38]
Chr2:189866140 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3201+20A>G single nucleotide variant not specified [RCV001582403] Chr2:189006472 [GRCh38]
Chr2:189871198 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2022+227G>A single nucleotide variant not provided [RCV001590008] Chr2:188998945 [GRCh38]
Chr2:189863671 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.639C>A (p.Gly213=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007256]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524136] Chr2:188989398 [GRCh38]
Chr2:189854124 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.129T>C (p.Asp43=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001498629] Chr2:188984809 [GRCh38]
Chr2:189849535 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1870-12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002539728]|Familial thoracic aortic aneurysm and aortic dissection [RCV001806250]|not provided [RCV001714543] Chr2:188997688 [GRCh38]
Chr2:189862414 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2391T>C (p.Pro797=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525220] Chr2:189001589 [GRCh38]
Chr2:189866315 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4253C>A (p.Thr1418Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008826]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525223] Chr2:189010889 [GRCh38]
Chr2:189875615 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2023-4A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525316] Chr2:188999281 [GRCh38]
Chr2:189864007 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1387G>A (p.Glu463Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001873697]|Familial thoracic aortic aneurysm and aortic dissection [RCV001526243] Chr2:188994763 [GRCh38]
Chr2:189859489 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1275T>A (p.Pro425=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526304] Chr2:188994314 [GRCh38]
Chr2:189859040 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3422C>T (p.Pro1141Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526312] Chr2:189008039 [GRCh38]
Chr2:189872765 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2122-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525425] Chr2:188999465 [GRCh38]
Chr2:189864191 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3383G>T (p.Gly1128Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001378290] Chr2:189007904 [GRCh38]
Chr2:189872630 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1077T>C (p.Pro359=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525785] Chr2:188993387 [GRCh38]
Chr2:189858113 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1855C>A (p.Pro619Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525850] Chr2:188997375 [GRCh38]
Chr2:189862101 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1073C>A (p.Ser358Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525878] Chr2:188993383 [GRCh38]
Chr2:189858109 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.196A>C (p.Ile66Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001873685]|Ehlers-Danlos syndrome, type 4 [RCV002501854]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525997] Chr2:188984876 [GRCh38]
Chr2:189849602 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978-25_1978-11del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001526025] Chr2:188998646..188998660 [GRCh38]
Chr2:189863372..189863386 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.816T>G (p.Asn272Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526028] Chr2:188991021 [GRCh38]
Chr2:189855747 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3903A>T (p.Thr1301=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526158] Chr2:189010257 [GRCh38]
Chr2:189874983 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1857C>G (p.Pro619=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001399973] Chr2:188997377 [GRCh38]
Chr2:189862103 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002568854]|not specified [RCV001526914] Chr2:188996177 [GRCh38]
Chr2:189860903 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1743C>T (p.Pro581=) single nucleotide variant COL3A1-related disorder [RCV004540286]|Ehlers-Danlos syndrome, type 4 [RCV001417869]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524032] Chr2:188996478 [GRCh38]
Chr2:189861204 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3824-6A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001496905] Chr2:189010172 [GRCh38]
Chr2:189874898 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2355C>A (p.Pro785=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523861] Chr2:189001553 [GRCh38]
Chr2:189866279 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3250G>T (p.Ala1084Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523934] Chr2:189006985 [GRCh38]
Chr2:189871711 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1348-10T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001393314] Chr2:188994714 [GRCh38]
Chr2:189859440 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1429G>T (p.Gly477Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001379925] Chr2:188994805 [GRCh38]
Chr2:189859531 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2119_2121+11del deletion Ehlers-Danlos syndrome, type 4 [RCV001378894] Chr2:188999380..188999393 [GRCh38]
Chr2:189864106..189864119 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.781G>C (p.Gly261Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001378708] Chr2:188990343 [GRCh38]
Chr2:189855069 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2943G>A (p.Gly981=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001479219] Chr2:189005361 [GRCh38]
Chr2:189870087 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1051G>A (p.Gly351Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001379054] Chr2:188993361 [GRCh38]
Chr2:189858087 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.839C>T (p.Ala280Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524314] Chr2:188991044 [GRCh38]
Chr2:189855770 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3969G>C (p.Lys1323Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003771585]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524430] Chr2:189010323 [GRCh38]
Chr2:189875049 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.300T>C (p.Asn100=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001402330]|Familial thoracic aortic aneurysm and aortic dissection [RCV001525022] Chr2:188985214 [GRCh38]
Chr2:189849940 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.530G>T (p.Gly177Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001865935]|not provided [RCV001508124] Chr2:188988082 [GRCh38]
Chr2:189852808 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1]) microsatellite Ehlers-Danlos syndrome, type 4 [RCV001377514] Chr2:189006937..189006945 [GRCh38]
Chr2:189871663..189871671 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.952-2del deletion Ehlers-Danlos syndrome, type 4 [RCV001377545] Chr2:188992182 [GRCh38]
Chr2:189856908 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3478A>T (p.Ile1160Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524704] Chr2:189008095 [GRCh38]
Chr2:189872821 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1348-4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001452617] Chr2:188994720 [GRCh38]
Chr2:189859446 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.931C>T (p.Pro311Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008797]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524809] Chr2:188991702 [GRCh38]
Chr2:189856428 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1685G>A (p.Arg562Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008810]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524959] Chr2:188996420 [GRCh38]
Chr2:189861146 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3276T>C (p.Gly1092=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001472523] Chr2:189007520 [GRCh38]
Chr2:189872246 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.952-7T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001430859] Chr2:188992177 [GRCh38]
Chr2:189856903 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3256-8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001456670] Chr2:189007492 [GRCh38]
Chr2:189872218 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1919T>C (p.Leu640Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525017] Chr2:188997749 [GRCh38]
Chr2:189862475 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.38T>C (p.Leu13Pro) single nucleotide variant not provided [RCV001756507] Chr2:188974527 [GRCh38]
Chr2:189839253 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1051-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003771887]|not provided [RCV001732438] Chr2:188993360 [GRCh38]
Chr2:189858086 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1668T>G (p.Ser556Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009020]|not provided [RCV001755054] Chr2:188996403 [GRCh38]
Chr2:189861129 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.263G>A (p.Cys88Tyr) single nucleotide variant not provided [RCV001755155] Chr2:188984943 [GRCh38]
Chr2:189849669 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2345G>C (p.Gly782Ala) single nucleotide variant not provided [RCV001756472] Chr2:189001543 [GRCh38]
Chr2:189866269 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4303A>G (p.Lys1435Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001730080] Chr2:189011676 [GRCh38]
Chr2:189876402 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3458C>G (p.Thr1153Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002277985] Chr2:189008075 [GRCh38]
Chr2:189872801 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4049T>C (p.Leu1350Pro) single nucleotide variant Ehlers-Danlos syndrome [RCV002277986] Chr2:189010685 [GRCh38]
Chr2:189875411 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1462C>T (p.Pro488Ser) single nucleotide variant not specified [RCV002247096] Chr2:188995052 [GRCh38]
Chr2:189859778 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2122G>A (p.Gly708Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002277983] Chr2:188999470 [GRCh38]
Chr2:189864196 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4255-8T>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277987] Chr2:189011620 [GRCh38]
Chr2:189876346 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.488G>T (p.Gly163Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003104296] Chr2:188987099 [GRCh38]
Chr2:189851825 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189839216)_(190044330_?)del deletion Ehlers-Danlos syndrome, classic type, 1 [RCV003109227]|Ehlers-Danlos syndrome, type 4 [RCV003119290] Chr2:189839216..190044330 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4134C>G (p.Tyr1378Ter) single nucleotide variant not provided [RCV003237564] Chr2:189010770 [GRCh38]
Chr2:189875496 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3326G>C (p.Arg1109Pro) single nucleotide variant not provided [RCV002256952] Chr2:189007570 [GRCh38]
Chr2:189872296 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2809G>A (p.Ala937Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002488599]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528330]|not provided [RCV001772918] Chr2:189004129 [GRCh38]
Chr2:189868855 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1102A>G (p.Arg368Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001806254]|not provided [RCV001752238] Chr2:188993412 [GRCh38]
Chr2:189858138 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.536dup (p.Gly180fs) duplication not provided [RCV001732783] Chr2:188988082..188988083 [GRCh38]
Chr2:189852808..189852809 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3145C>G (p.Pro1049Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003289077]|not provided [RCV001767911] Chr2:189006396 [GRCh38]
Chr2:189871122 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.724C>G (p.Arg242Gly) single nucleotide variant Ehlers-Danlos syndrome [RCV002276881]|Ehlers-Danlos syndrome, type 4 [RCV002032845]|not provided [RCV001767123] Chr2:188990129 [GRCh38]
Chr2:189854855 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2107C>G (p.Pro703Ala) single nucleotide variant not provided [RCV001767125] Chr2:188999369 [GRCh38]
Chr2:189864095 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2587C>T (p.Arg863Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009001]|not provided [RCV001772668] Chr2:189003444 [GRCh38]
Chr2:189868170 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4070T>C (p.Leu1357Pro) single nucleotide variant not provided [RCV001767331] Chr2:189010706 [GRCh38]
Chr2:189875432 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3424G>A (p.Val1142Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008992]|not provided [RCV001752060] Chr2:189008041 [GRCh38]
Chr2:189872767 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3442C>T (p.Pro1148Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001868581]|not provided [RCV001769080] Chr2:189008059 [GRCh38]
Chr2:189872785 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2273A>G (p.Asp758Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001868587]|not provided [RCV001769294] Chr2:188999885 [GRCh38]
Chr2:189864611 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978-9A>G single nucleotide variant not provided [RCV001763126] Chr2:188998665 [GRCh38]
Chr2:189863391 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2617G>T (p.Gly873Cys) single nucleotide variant not provided [RCV001780814] Chr2:189003743 [GRCh38]
Chr2:189868469 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.95G>A (p.Cys32Tyr) single nucleotide variant not provided [RCV001768715] Chr2:188984775 [GRCh38]
Chr2:189849501 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009059]|Familial thoracic aortic aneurysm and aortic dissection [RCV003163933]|not specified [RCV001797971] Chr2:189008050 [GRCh38]
Chr2:189872776 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.402T>G (p.Ser134=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009113]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805252] Chr2:188985733 [GRCh38]
Chr2:189850459 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1189G>A (p.Glu397Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001869548]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805489] Chr2:188994077 [GRCh38]
Chr2:189858803 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1608G>T (p.Arg536Ser) single nucleotide variant not provided [RCV001794835] Chr2:188995790 [GRCh38]
Chr2:189860516 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3124G>A (p.Ala1042Thr) single nucleotide variant not provided [RCV001812575] Chr2:189006375 [GRCh38]
Chr2:189871101 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.601G>T (p.Gly201Ter) single nucleotide variant not provided [RCV001786807] Chr2:188988608 [GRCh38]
Chr2:189853334 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2506G>A (p.Gly836Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009062]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799389] Chr2:189003015 [GRCh38]
Chr2:189867741 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.258A>T (p.Ala86=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002074141]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799390] Chr2:188984938 [GRCh38]
Chr2:189849664 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4:c.-46_4368del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001799391]   likely pathogenic
NM_000090.4(COL3A1):c.511G>A (p.Gly171Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003772198]|Familial thoracic aortic aneurysm and aortic dissection [RCV001799392]|not provided [RCV003128814] Chr2:188987122 [GRCh38]
Chr2:189851848 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2446-5T>A single nucleotide variant not provided [RCV001786969] Chr2:189002950 [GRCh38]
Chr2:189867676 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4197A>G (p.Glu1399=) single nucleotide variant not provided [RCV001797302] Chr2:189010833 [GRCh38]
Chr2:189875559 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3928G>A (p.Val1310Ile) single nucleotide variant COL3A1-related disorder [RCV004536291]|Ehlers-Danlos syndrome, type 4 [RCV003633595]|not provided [RCV001758352] Chr2:189010282 [GRCh38]
Chr2:189875008 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1457G>A (p.Gly486Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001733848] Chr2:188995047 [GRCh38]
Chr2:189859773 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.23G>A (p.Gly8Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002540409]|not provided [RCV001758487] Chr2:188974512 [GRCh38]
Chr2:189839238 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3637G>T (p.Ala1213Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002542377]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804270] Chr2:189009035 [GRCh38]
Chr2:189873761 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1109A>G (p.Glu370Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002541415]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804601] Chr2:188993419 [GRCh38]
Chr2:189858145 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2047C>T (p.Arg683Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633601]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805462] Chr2:188999309 [GRCh38]
Chr2:189864035 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3574_3582del (p.Ala1192_Gly1194del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001805352] Chr2:189008966..189008974 [GRCh38]
Chr2:189873692..189873700 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.111G>C (p.Gln37His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003120695]|not provided [RCV001811785] Chr2:188984791 [GRCh38]
Chr2:189849517 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804358] Chr2:188996184 [GRCh38]
Chr2:189860910 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1408C>T (p.Pro470Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009082]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804297]|not provided [RCV002307763] Chr2:188994784 [GRCh38]
Chr2:189859510 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3595G>A (p.Gly1199Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805276] Chr2:189008993 [GRCh38]
Chr2:189873719 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202-12T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804367] Chr2:189006925 [GRCh38]
Chr2:189871651 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.369T>A (p.Pro123=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805550] Chr2:188985700 [GRCh38]
Chr2:189850426 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.4065A>G (p.Ala1355=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003772248]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805594] Chr2:189010701 [GRCh38]
Chr2:189875427 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.537A>G (p.Pro179=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002541432]|Familial thoracic aortic aneurysm and aortic dissection [RCV001805437] Chr2:188988089 [GRCh38]
Chr2:189852815 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2136T>A (p.Pro712=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805369] Chr2:188999484 [GRCh38]
Chr2:189864210 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1464T>C (p.Pro488=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002542387]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804590] Chr2:188995054 [GRCh38]
Chr2:189859780 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1442C>G (p.Ala481Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805502] Chr2:188994818 [GRCh38]
Chr2:189859544 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-43T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805530] Chr2:189007457 [GRCh38]
Chr2:189872183 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1146T>C (p.Pro382=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804532] Chr2:188993456 [GRCh38]
Chr2:189858182 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3141T>A (p.Gly1047=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002541412]|Familial thoracic aortic aneurysm and aortic dissection [RCV001804559] Chr2:189006392 [GRCh38]
Chr2:189871118 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1230G>T (p.Met410Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804417] Chr2:188994269 [GRCh38]
Chr2:189858995 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2824-10T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805272] Chr2:189004247 [GRCh38]
Chr2:189868973 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2318C>G (p.Ala773Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805513] Chr2:189001431 [GRCh38]
Chr2:189866157 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2743G>A (p.Gly915Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002025767] Chr2:189004063 [GRCh38]
Chr2:189868789 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001950659] Chr2:189007533..189007534 [GRCh38]
Chr2:189872259..189872260 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4359T>G (p.Asp1453Glu) single nucleotide variant not provided [RCV001837643] Chr2:189011732 [GRCh38]
Chr2:189876458 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.745G>A (p.Gly249Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001988663] Chr2:188990307 [GRCh38]
Chr2:189855033 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1550C>A (p.Pro517His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001929031] Chr2:188995732 [GRCh38]
Chr2:189860458 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1070G>A (p.Gly357Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001971122] Chr2:188993380 [GRCh38]
Chr2:189858106 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.275C>T (p.Pro92Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001895885] Chr2:188984955 [GRCh38]
Chr2:189849681 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.14T>A (p.Val5Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001911406]|not provided [RCV003438891] Chr2:188974503 [GRCh38]
Chr2:189839229 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2491G>C (p.Gly831Arg) single nucleotide variant not provided [RCV001843971] Chr2:189003000 [GRCh38]
Chr2:189867726 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4159A>G (p.Lys1387Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001948029] Chr2:189010795 [GRCh38]
Chr2:189875521 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001927493] Chr2:188989433 [GRCh38]
Chr2:189854159 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1223G>T (p.Gly408Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002006837] Chr2:188994262 [GRCh38]
Chr2:189858988 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2393G>A (p.Gly798Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002020816] Chr2:189002299 [GRCh38]
Chr2:189867025 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001966500] Chr2:189007528 [GRCh38]
Chr2:189872254 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3417+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002040976] Chr2:189007944 [GRCh38]
Chr2:189872670 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.278C>A (p.Thr93Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001983856] Chr2:188984958 [GRCh38]
Chr2:189849684 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002542768]|not specified [RCV001825142] Chr2:189003009 [GRCh38]
Chr2:189867735 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3364-9T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001967047] Chr2:189007876 [GRCh38]
Chr2:189872602 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4394T>C (p.Phe1465Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001985190] Chr2:189011767 [GRCh38]
Chr2:189876493 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.22G>A (p.Gly8Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001890835] Chr2:188974511 [GRCh38]
Chr2:189839237 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1050+7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002006384]|not provided [RCV003481237] Chr2:188992947 [GRCh38]
Chr2:189857673 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2104G>C (p.Gly702Arg) single nucleotide variant not provided [RCV001843968] Chr2:188999366 [GRCh38]
Chr2:189864092 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002003555]|Familial thoracic aortic aneurysm and aortic dissection [RCV002441161] Chr2:189005404 [GRCh38]
Chr2:189870130 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1105G>C (p.Gly369Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001968693] Chr2:188993415 [GRCh38]
Chr2:189858141 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001949481] Chr2:189004302 [GRCh38]
Chr2:189869028 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002040389] Chr2:188996489 [GRCh38]
Chr2:189861215 [GRCh37]
Chr2:2q32.2		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_000090.4(COL3A1):c.1658C>T (p.Pro553Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001945594] Chr2:188996174 [GRCh38]
Chr2:189860900 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.530G>C (p.Gly177Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002002610] Chr2:188988082 [GRCh38]
Chr2:189852808 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002543342]|not specified [RCV001844785] Chr2:189010830 [GRCh38]
Chr2:189875556 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.1662+72GT[12] microsatellite not provided [RCV002052347] Chr2:188996249..188996250 [GRCh38]
Chr2:189860975..189860976 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-1G>A single nucleotide variant not provided [RCV001837102] Chr2:188994540 [GRCh38]
Chr2:189859266 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1859del (p.Pro620fs) deletion Ehlers-Danlos syndrome, type 4 [RCV002007456] Chr2:188997375 [GRCh38]
Chr2:189862101 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3494C>T (p.Pro1165Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001836679] Chr2:189008111 [GRCh38]
Chr2:189872837 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1004C>A (p.Pro335His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001986058] Chr2:188992894 [GRCh38]
Chr2:189857620 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2305CCT[1] (p.Pro770del) microsatellite Ehlers-Danlos syndrome, type 4 [RCV001843970] Chr2:189001417..189001419 [GRCh38]
Chr2:189866143..189866145 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001968629] Chr2:189008987 [GRCh38]
Chr2:189873713 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3616G>T (p.Ala1206Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002023706] Chr2:189009014 [GRCh38]
Chr2:189873740 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.495A>G (p.Ala165=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001911068] Chr2:188987106 [GRCh38]
Chr2:189851832 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001947052] Chr2:189007506 [GRCh38]
Chr2:189872232 [GRCh37]
Chr2:2q32.2		 pathogenic
NC_000002.11:g.(?_189860831)_(189861242_?)dup duplication Ehlers-Danlos syndrome, type 4 [RCV001913407] Chr2:189860831..189861242 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3082C>T (p.Pro1028Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002002624] Chr2:189006248 [GRCh38]
Chr2:189870974 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1333C>T (p.Pro445Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001946245]|Ehlers-Danlos syndrome, type 4 [RCV002484655]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528346] Chr2:188994580 [GRCh38]
Chr2:189859306 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3040-3C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001910485] Chr2:189006203 [GRCh38]
Chr2:189870929 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001963686]|Familial thoracic aortic aneurysm and aortic dissection [RCV002407201] Chr2:188997701 [GRCh38]
Chr2:189862427 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter) duplication Ehlers-Danlos syndrome, type 4 [RCV001972628] Chr2:189005371..189005372 [GRCh38]
Chr2:189870097..189870098 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2981C>A (p.Pro994His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002015681] Chr2:189005399 [GRCh38]
Chr2:189870125 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1075C>G (p.Pro359Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001901879]|not provided [RCV003136224] Chr2:188993385 [GRCh38]
Chr2:189858111 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2456G>A (p.Gly819Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002038971]|not provided [RCV003225221] Chr2:189002965 [GRCh38]
Chr2:189867691 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1609-2A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001995564] Chr2:188996123 [GRCh38]
Chr2:189860849 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.80-2A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001977052] Chr2:188984758 [GRCh38]
Chr2:189849484 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3154C>T (p.Pro1052Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001961993]|Familial thoracic aortic aneurysm and aortic dissection [RCV004040341] Chr2:189006405 [GRCh38]
Chr2:189871131 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001951249] Chr2:188990103 [GRCh38]
Chr2:189854829 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs) duplication Ehlers-Danlos syndrome, type 4 [RCV001942160] Chr2:188995727..188995728 [GRCh38]
Chr2:189860453..189860454 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2668C>G (p.Pro890Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001943739] Chr2:189003988 [GRCh38]
Chr2:189868714 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1834G>A (p.Gly612Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001973787] Chr2:188997354 [GRCh38]
Chr2:189862080 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2070G>A (p.Gly690=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001975301] Chr2:188999332 [GRCh38]
Chr2:189864058 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2734G>A (p.Gly912Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001976628] Chr2:189004054 [GRCh38]
Chr2:189868780 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3971A>G (p.Lys1324Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001937056] Chr2:189010325 [GRCh38]
Chr2:189875051 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.616C>T (p.Pro206Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001878860] Chr2:188988623 [GRCh38]
Chr2:189853349 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3533C>A (p.Pro1178Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002016934] Chr2:189008931 [GRCh38]
Chr2:189873657 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3712C>T (p.Leu1238Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001979210] Chr2:189009110 [GRCh38]
Chr2:189873836 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1103G>A (p.Arg368Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001904361] Chr2:188993413 [GRCh38]
Chr2:189858139 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.880G>A (p.Gly294Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001993916] Chr2:188991514 [GRCh38]
Chr2:189856240 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3277G>A (p.Asp1093Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001956599] Chr2:189007521 [GRCh38]
Chr2:189872247 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3583C>T (p.Pro1195Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001879254] Chr2:189008981 [GRCh38]
Chr2:189873707 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2876C>T (p.Ala959Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001866535] Chr2:189004309 [GRCh38]
Chr2:189869035 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1013C>T (p.Pro338Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001973379] Chr2:188992903 [GRCh38]
Chr2:189857629 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3524A>C (p.Glu1175Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002028789] Chr2:189008141 [GRCh38]
Chr2:189872867 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1313G>A (p.Gly438Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002048883] Chr2:188994560 [GRCh38]
Chr2:189859286 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.961G>A (p.Gly321Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002033223] Chr2:188992193 [GRCh38]
Chr2:189856919 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2101C>G (p.Pro701Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002026599]|not provided [RCV003313263] Chr2:188999363 [GRCh38]
Chr2:189864089 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001972578] Chr2:188988100 [GRCh38]
Chr2:189852826 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001957591] Chr2:188999842 [GRCh38]
Chr2:189864568 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.205G>A (p.Asp69Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002018184]|Ehlers-Danlos syndrome, type 4 [RCV002498047]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528349] Chr2:188984885 [GRCh38]
Chr2:189849611 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.862G>A (p.Gly288Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002017124] Chr2:188991496 [GRCh38]
Chr2:189856222 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2023-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002034276] Chr2:188999284 [GRCh38]
Chr2:189864010 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.181del (p.Leu61fs) deletion Ehlers-Danlos syndrome, type 4 [RCV001885729] Chr2:188984861 [GRCh38]
Chr2:189849587 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002033739] Chr2:189007518 [GRCh38]
Chr2:189872244 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001998849]|Ehlers-Danlos syndrome, type 4 [RCV002497955] Chr2:189003420 [GRCh38]
Chr2:189868146 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1430G>A (p.Gly477Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002036805] Chr2:188994806 [GRCh38]
Chr2:189859532 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3160C>T (p.Pro1054Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001992628] Chr2:189006411 [GRCh38]
Chr2:189871137 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2105G>C (p.Gly702Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001976925] Chr2:188999367 [GRCh38]
Chr2:189864093 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.187G>A (p.Asp63Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001999404] Chr2:188984867 [GRCh38]
Chr2:189849593 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3559C>T (p.Pro1187Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002011999] Chr2:189008957 [GRCh38]
Chr2:189873683 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.113C>A (p.Ser38Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002012109] Chr2:188984793 [GRCh38]
Chr2:189849519 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001997918]|Familial thoracic aortic aneurysm and aortic dissection [RCV003289315]|not specified [RCV002236193] Chr2:188985674 [GRCh38]
Chr2:189850400 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4102A>G (p.Ile1368Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002028892] Chr2:189010738 [GRCh38]
Chr2:189875464 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2993A>G (p.Gln998Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001958246] Chr2:189005411 [GRCh38]
Chr2:189870137 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.997-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002018017] Chr2:188992886 [GRCh38]
Chr2:189857612 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2661T>C (p.Asn887=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001972201] Chr2:189003787 [GRCh38]
Chr2:189868513 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1709G>A (p.Gly570Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001980462]|Familial thoracic aortic aneurysm and aortic dissection [RCV002398064] Chr2:188996444 [GRCh38]
Chr2:189861170 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2261T>A (p.Val754Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001933424] Chr2:188999873 [GRCh38]
Chr2:189864599 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3370G>T (p.Ala1124Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001866922]|Ehlers-Danlos syndrome, type 4 [RCV002478120] Chr2:189007891 [GRCh38]
Chr2:189872617 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1357G>T (p.Gly453Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001990760] Chr2:188994733 [GRCh38]
Chr2:189859459 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001923828] Chr2:188991022 [GRCh38]
Chr2:189855748 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.313C>G (p.Gln105Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001898860] Chr2:188985227 [GRCh38]
Chr2:189849953 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3292G>C (p.Gly1098Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001979605] Chr2:189007536 [GRCh38]
Chr2:189872262 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4370G>A (p.Gly1457Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001961311] Chr2:189011743 [GRCh38]
Chr2:189876469 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2369T>C (p.Ile790Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001924379] Chr2:189001567 [GRCh38]
Chr2:189866293 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3847C>G (p.Gln1283Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001939199] Chr2:189010201 [GRCh38]
Chr2:189874927 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) duplication Ehlers-Danlos syndrome, type 4 [RCV001925950]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528344] Chr2:189008076..189008077 [GRCh38]
Chr2:189872802..189872803 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3092A>G (p.Lys1031Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001951866] Chr2:189006258 [GRCh38]
Chr2:189870984 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662C>G (p.Pro554=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001925273]|Familial thoracic aortic aneurysm and aortic dissection [RCV002397876] Chr2:188996178 [GRCh38]
Chr2:189860904 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.2030C>G (p.Ala677Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002036459] Chr2:188999292 [GRCh38]
Chr2:189864018 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1761+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001956322] Chr2:188996497 [GRCh38]
Chr2:189861223 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2023G>A (p.Gly675Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002050634] Chr2:188999285 [GRCh38]
Chr2:189864011 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2567C>T (p.Pro856Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001878399] Chr2:189003424 [GRCh38]
Chr2:189868150 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.380G>A (p.Gly127Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002012580] Chr2:188985711 [GRCh38]
Chr2:189850437 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1277G>A (p.Gly426Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002028498] Chr2:188994316 [GRCh38]
Chr2:189859042 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.473A>G (p.Tyr158Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001976964] Chr2:188987084 [GRCh38]
Chr2:189851810 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2257G>T (p.Gly753Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002017187] Chr2:188999869 [GRCh38]
Chr2:189864595 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) duplication Ehlers-Danlos syndrome, type 4 [RCV001955112] Chr2:188985738..188985739 [GRCh38]
Chr2:189850464..189850465 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV001897839] Chr2:188999340 [GRCh38]
Chr2:189864066 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2022+12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002126543] Chr2:188998730 [GRCh38]
Chr2:189863456 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1254A>G (p.Pro418=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002187900] Chr2:188994293 [GRCh38]
Chr2:189859019 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002090231] Chr2:188998326 [GRCh38]
Chr2:189863052 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4255-20C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002165164] Chr2:189011608 [GRCh38]
Chr2:189876334 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+16G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002107292] Chr2:188988150 [GRCh38]
Chr2:189852876 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2337+16A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002146944] Chr2:189001466 [GRCh38]
Chr2:189866192 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.747T>C (p.Gly249=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002207390] Chr2:188990309 [GRCh38]
Chr2:189855035 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2662-6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002186901] Chr2:189003976 [GRCh38]
Chr2:189868702 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.997-4T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002205056] Chr2:188992883 [GRCh38]
Chr2:189857609 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.79+10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002087975] Chr2:188974578 [GRCh38]
Chr2:189839304 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1806T>A (p.Pro602=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002089145] Chr2:188997209 [GRCh38]
Chr2:189861935 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2553+11T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002167529] Chr2:189003073 [GRCh38]
Chr2:189867799 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1383A>G (p.Lys461=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002210242] Chr2:188994759 [GRCh38]
Chr2:189859485 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2103T>C (p.Pro701=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002187120] Chr2:188999365 [GRCh38]
Chr2:189864091 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3530C>T (p.Ser1177Phe) single nucleotide variant not provided [RCV002223674] Chr2:189008928 [GRCh38]
Chr2:189873654 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3219T>G (p.Ala1073=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002208579] Chr2:189006954 [GRCh38]
Chr2:189871680 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2824-5A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002109689] Chr2:189004252 [GRCh38]
Chr2:189868978 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.366C>T (p.Asp122=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002210714] Chr2:188985697 [GRCh38]
Chr2:189850423 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3526-7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002112174] Chr2:189008917 [GRCh38]
Chr2:189873643 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+9T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002124385] Chr2:189006999 [GRCh38]
Chr2:189871725 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3040-7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002085924] Chr2:189006199 [GRCh38]
Chr2:189870925 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1455+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633604]|not provided [RCV002224567] Chr2:188994836 [GRCh38]
Chr2:189859562 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1080T>C (p.Gly360=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002106585] Chr2:188993390 [GRCh38]
Chr2:189858116 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2457T>C (p.Gly819=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002187279] Chr2:189002966 [GRCh38]
Chr2:189867692 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3526-16G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002165478] Chr2:189008908 [GRCh38]
Chr2:189873634 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1893C>T (p.Asp631=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002089381]|Familial thoracic aortic aneurysm and aortic dissection [RCV003161326] Chr2:188997723 [GRCh38]
Chr2:189862449 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.360T>C (p.Asn120=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002168324] Chr2:188985691 [GRCh38]
Chr2:189850417 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3823+10G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002185264] Chr2:189009231 [GRCh38]
Chr2:189873957 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1566A>G (p.Gly522=) single nucleotide variant not provided [RCV002227386] Chr2:188995748 [GRCh38]
Chr2:189860474 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-8_1294-2dup duplication Ehlers-Danlos syndrome, type 4 [RCV002111529] Chr2:188994529..188994530 [GRCh38]
Chr2:189859255..189859256 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.963T>C (p.Gly321=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002167653] Chr2:188992195 [GRCh38]
Chr2:189856921 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3823+17_3823+18del deletion Ehlers-Danlos syndrome, type 4 [RCV002075074] Chr2:189009237..189009238 [GRCh38]
Chr2:189873963..189873964 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.570T>C (p.His190=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002124392] Chr2:188988122 [GRCh38]
Chr2:189852848 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.997-9T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002105198] Chr2:188992878 [GRCh38]
Chr2:189857604 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.448-11C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002146705] Chr2:188987048 [GRCh38]
Chr2:189851774 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+19T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002152011] Chr2:188998338 [GRCh38]
Chr2:189863064 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3606C>T (p.Ala1202=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277003]|Ehlers-Danlos syndrome, type 4 [RCV002194754]|Familial thoracic aortic aneurysm and aortic dissection [RCV002454378] Chr2:189009004 [GRCh38]
Chr2:189873730 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.114C>T (p.Ser38=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002215318] Chr2:188984794 [GRCh38]
Chr2:189849520 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2022+10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002165502] Chr2:188998728 [GRCh38]
Chr2:189863454 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1161G>A (p.Gly387=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002170970] Chr2:188994049 [GRCh38]
Chr2:189858775 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.448-19A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002131434] Chr2:188987040 [GRCh38]
Chr2:189851766 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.448-5C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002131435] Chr2:188987054 [GRCh38]
Chr2:189851780 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.915T>G (p.Pro305=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002079694] Chr2:188991686 [GRCh38]
Chr2:189856412 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.324G>A (p.Lys108=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002113585] Chr2:188985238 [GRCh38]
Chr2:189849964 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.898-20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002129564] Chr2:188991649 [GRCh38]
Chr2:189856375 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3418-4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002096906] Chr2:189008031 [GRCh38]
Chr2:189872757 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1410T>C (p.Pro470=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002172432]|Familial thoracic aortic aneurysm and aortic dissection [RCV003348786] Chr2:188994786 [GRCh38]
Chr2:189859512 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-5T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002188546] Chr2:188994719 [GRCh38]
Chr2:189859445 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.318C>T (p.Gly106=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002078657] Chr2:188985232 [GRCh38]
Chr2:189849958 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.690+15C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002094280] Chr2:188989464 [GRCh38]
Chr2:189854190 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2319T>C (p.Ala773=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002195342] Chr2:189001432 [GRCh38]
Chr2:189866158 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-20A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002194077] Chr2:189006917 [GRCh38]
Chr2:189871643 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2610T>C (p.Gly870=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002149744] Chr2:189003736 [GRCh38]
Chr2:189868462 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1740C>T (p.Phe580=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002185510] Chr2:188996475 [GRCh38]
Chr2:189861201 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3444T>C (p.Pro1148=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002117129] Chr2:189008061 [GRCh38]
Chr2:189872787 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2553+23_2553+26del deletion Ehlers-Danlos syndrome, type 4 [RCV002115292] Chr2:189003082..189003085 [GRCh38]
Chr2:189867808..189867811 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.897+16dup duplication Ehlers-Danlos syndrome, type 4 [RCV002174704] Chr2:188991546..188991547 [GRCh38]
Chr2:189856272..189856273 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.414T>G (p.Pro138=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002086080] Chr2:188985745 [GRCh38]
Chr2:189850471 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1617C>G (p.Pro539=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002151036] Chr2:188996133 [GRCh38]
Chr2:189860859 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1609-14C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002095418] Chr2:188996111 [GRCh38]
Chr2:189860837 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1347+4A>G single nucleotide variant not provided [RCV002223440] Chr2:188994598 [GRCh38]
Chr2:189859324 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1816-14G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002109623] Chr2:188997322 [GRCh38]
Chr2:189862048 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-17G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002129375] Chr2:188997148 [GRCh38]
Chr2:189861874 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1150-19C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002078202] Chr2:188994019 [GRCh38]
Chr2:189858745 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2621T>G (p.Phe874Cys) single nucleotide variant not provided [RCV002224282] Chr2:189003747 [GRCh38]
Chr2:189868473 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.853-20C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002131756] Chr2:188991467 [GRCh38]
Chr2:189856193 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-18A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002078539] Chr2:188984742 [GRCh38]
Chr2:189849468 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.79+16T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002172708] Chr2:188974584 [GRCh38]
Chr2:189839310 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2547A>G (p.Gly849=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002137895] Chr2:189003056 [GRCh38]
Chr2:189867782 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3418-9C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002139763] Chr2:189008026 [GRCh38]
Chr2:189872752 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-17T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002122422] Chr2:188995675 [GRCh38]
Chr2:189860401 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1068A>G (p.Ala356=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002182008] Chr2:188993378 [GRCh38]
Chr2:189858104 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.390G>T (p.Gly130=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002218257] Chr2:188985721 [GRCh38]
Chr2:189850447 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.1870-18A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002175619] Chr2:188997682 [GRCh38]
Chr2:189862408 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+15A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002181514] Chr2:188998334 [GRCh38]
Chr2:189863060 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.258A>C (p.Ala86=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002198170] Chr2:188984938 [GRCh38]
Chr2:189849664 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.852+20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002162555] Chr2:188991077 [GRCh38]
Chr2:189855803 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1347+11C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002142254] Chr2:188994605 [GRCh38]
Chr2:189859331 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1663-15A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002157477] Chr2:188996383 [GRCh38]
Chr2:189861109 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.997-8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002199521] Chr2:188992879 [GRCh38]
Chr2:189857605 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1455+12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002184620]|not specified [RCV003226529] Chr2:188994843 [GRCh38]
Chr2:189859569 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3465A>G (p.Gly1155=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002219044] Chr2:189008082 [GRCh38]
Chr2:189872808 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2392-16A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002084128] Chr2:189002282 [GRCh38]
Chr2:189867008 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.952-14A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002104063] Chr2:188992170 [GRCh38]
Chr2:189856896 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.711A>G (p.Gly237=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002084364] Chr2:188990116 [GRCh38]
Chr2:189854842 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002084434] Chr2:189006930 [GRCh38]
Chr2:189871656 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2604A>T (p.Gly868=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002101092] Chr2:189003461 [GRCh38]
Chr2:189868187 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-18A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002199565] Chr2:188994706 [GRCh38]
Chr2:189859432 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.39C>G (p.Leu13=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002197818] Chr2:188974528 [GRCh38]
Chr2:189839254 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4053T>C (p.Asp1351=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002119570] Chr2:189010689 [GRCh38]
Chr2:189875415 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+19dup duplication Ehlers-Danlos syndrome, type 4 [RCV002140664] Chr2:189007003..189007004 [GRCh38]
Chr2:189871729..189871730 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.690+7T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002154307] Chr2:188989456 [GRCh38]
Chr2:189854182 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1587C>T (p.Val529=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002137654] Chr2:188995769 [GRCh38]
Chr2:189860495 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.744+11A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002203846] Chr2:188990160 [GRCh38]
Chr2:189854886 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1761+16A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002156618] Chr2:188996512 [GRCh38]
Chr2:189861238 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.282+9A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002183689] Chr2:188984971 [GRCh38]
Chr2:189849697 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1086T>C (p.Asn362=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002098688] Chr2:188993396 [GRCh38]
Chr2:189858122 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1224A>C (p.Gly408=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002082677] Chr2:188994263 [GRCh38]
Chr2:189858989 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3459C>G (p.Thr1153=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002176850] Chr2:189008076 [GRCh38]
Chr2:189872802 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.744+15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002102831] Chr2:188990164 [GRCh38]
Chr2:189854890 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2481A>G (p.Arg827=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002102902] Chr2:189002990 [GRCh38]
Chr2:189867716 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.225C>A (p.Pro75=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002122473]|Familial thoracic aortic aneurysm and aortic dissection [RCV002443179] Chr2:188984905 [GRCh38]
Chr2:189849631 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.517C>G (p.Pro173Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009558]|not provided [RCV003110021] Chr2:188987128 [GRCh38]
Chr2:189851854 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1816-17A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003118202] Chr2:188997319 [GRCh38]
Chr2:189862045 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter) single nucleotide variant Ehlers-Danlos syndrome [RCV004017969]|Ehlers-Danlos syndrome, type 4 [RCV003112138]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528437] Chr2:188996449 [GRCh38]
Chr2:189861175 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.1294-9A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003115023] Chr2:188994532 [GRCh38]
Chr2:189859258 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003118493]|not provided [RCV003443166] Chr2:189006979 [GRCh38]
Chr2:189871705 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NC_000002.11:g.(?_189839216)_(189839314_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV003119287] Chr2:189839216..189839314 [GRCh37]
Chr2:2q32.2		 pathogenic
NC_000002.11:g.(?_189860841)_(189861232_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV003119288] Chr2:189860841..189861232 [GRCh37]
Chr2:2q32.2		 pathogenic
NC_000002.11:g.(?_189849903)_(189957166_?)dup duplication Ehlers-Danlos syndrome, type 4 [RCV003119289] Chr2:189849903..189957166 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.895A>G (p.Met299Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003120072] Chr2:188991529 [GRCh38]
Chr2:189856255 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4372G>A (p.Val1458Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003101358]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528358]|not provided [RCV002248222] Chr2:189011745 [GRCh38]
Chr2:189876471 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.745-10T>C single nucleotide variant not specified [RCV002266221] Chr2:188990297 [GRCh38]
Chr2:189855023 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2887G>A (p.Gly963Ser) single nucleotide variant not provided [RCV002293037] Chr2:189004320 [GRCh38]
Chr2:189869046 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2815G>C (p.Gly939Arg) single nucleotide variant Ehlers-Danlos syndrome [RCV002277984] Chr2:189004135 [GRCh38]
Chr2:189868861 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4080C>T (p.Leu1360=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003164402]|not provided [RCV002275542] Chr2:189010716 [GRCh38]
Chr2:189875442 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3411C>G (p.Gly1137=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452164] Chr2:189007932 [GRCh38]
Chr2:189872658 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2381G>C (p.Arg794Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002290170] Chr2:189001579 [GRCh38]
Chr2:189866305 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.743C>T (p.Pro248Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002385064] Chr2:188990148 [GRCh38]
Chr2:189854874 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1958A>G (p.Asn653Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002416542]|not provided [RCV002261723] Chr2:188998300 [GRCh38]
Chr2:189863026 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.550C>A (p.Pro184Thr) single nucleotide variant not provided [RCV002281230] Chr2:188988102 [GRCh38]
Chr2:189852828 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.529-10C>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277988] Chr2:188988071 [GRCh38]
Chr2:189852797 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1194+5G>C single nucleotide variant Connective tissue disorder [RCV002278838] Chr2:188994087 [GRCh38]
Chr2:189858813 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3203G>A (p.Gly1068Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002288244] Chr2:189006938 [GRCh38]
Chr2:189871664 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.992A>T (p.Gln331Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003097721]|Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome [RCV002287297] Chr2:188992224 [GRCh38]
Chr2:189856950 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.3333C>A (p.Phe1111Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003774806]|not provided [RCV002261724] Chr2:189007577 [GRCh38]
Chr2:189872303 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.331C>A (p.Pro111Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002290402] Chr2:188985245 [GRCh38]
Chr2:189849971 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.658G>A (p.Ala220Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002289150] Chr2:188989417 [GRCh38]
Chr2:189854143 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.971G>T (p.Gly324Val) single nucleotide variant Ehlers-Danlos syndrome [RCV002277989] Chr2:188992203 [GRCh38]
Chr2:189856929 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2269A>G (p.Lys757Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002289198] Chr2:188999881 [GRCh38]
Chr2:189864607 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3209C>G (p.Ala1070Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003108006]|not provided [RCV002288180] Chr2:189006944 [GRCh38]
Chr2:189871670 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.805G>A (p.Asp269Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002419353] Chr2:188991010 [GRCh38]
Chr2:189855736 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1957A>T (p.Asn653Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002421635] Chr2:188998299 [GRCh38]
Chr2:189863025 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3074A>C (p.Asp1025Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002297425]|not provided [RCV003232602] Chr2:189006240 [GRCh38]
Chr2:189870966 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-3T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452714] Chr2:188994035 [GRCh38]
Chr2:189858761 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2899C>A (p.Pro967Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002438002] Chr2:189004332 [GRCh38]
Chr2:189869058 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3565C>G (p.Pro1189Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002454948] Chr2:189008963 [GRCh38]
Chr2:189873689 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2717G>A (p.Gly906Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437459] Chr2:189004037 [GRCh38]
Chr2:189868763 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.491T>C (p.Val164Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351262] Chr2:188987102 [GRCh38]
Chr2:189851828 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.582+2T>C single nucleotide variant See cases [RCV002287688] Chr2:188988136 [GRCh38]
Chr2:189852862 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1862_1869+5del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002414938] Chr2:188997380..188997392 [GRCh38]
Chr2:189862106..189862118 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.458C>G (p.Pro153Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004005666]|Familial thoracic aortic aneurysm and aortic dissection [RCV002342265] Chr2:188987069 [GRCh38]
Chr2:189851795 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1733T>A (p.Met578Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002466778] Chr2:188996468 [GRCh38]
Chr2:189861194 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.2(chr2:189846654-189953960)x3 copy number gain not provided [RCV002472689] Chr2:189846654..189953960 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1		 pathogenic
NM_000090.4(COL3A1):c.274C>G (p.Pro92Ala) single nucleotide variant not provided [RCV002467152] Chr2:188984954 [GRCh38]
Chr2:189849680 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.183C>G (p.Leu61=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002412801] Chr2:188984863 [GRCh38]
Chr2:189849589 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1853G>A (p.Gly618Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003097299]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413063] Chr2:188997373 [GRCh38]
Chr2:189862099 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.253T>C (p.Cys85Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002303267] Chr2:188984933 [GRCh38]
Chr2:189849659 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2123G>A (p.Gly708Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002417651] Chr2:188999471 [GRCh38]
Chr2:189864197 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3560C>A (p.Pro1187His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002304415] Chr2:189008958 [GRCh38]
Chr2:189873684 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2226C>T (p.Asp742=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002428148] Chr2:188999574 [GRCh38]
Chr2:189864300 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4032A>G (p.Glu1344=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359564] Chr2:189010668 [GRCh38]
Chr2:189875394 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4290A>G (p.Glu1430=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330206] Chr2:189011663 [GRCh38]
Chr2:189876389 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4296A>G (p.Arg1432=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330241] Chr2:189011669 [GRCh38]
Chr2:189876395 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3227C>G (p.Pro1076Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003099139]|not provided [RCV002308997] Chr2:189006962 [GRCh38]
Chr2:189871688 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3982_3986dup (p.Glu1330fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002375549] Chr2:189010329..189010330 [GRCh38]
Chr2:189875055..189875056 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.436A>G (p.Thr146Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002300096] Chr2:188985767 [GRCh38]
Chr2:189850493 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1604T>G (p.Met535Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002398762]|not provided [RCV003096992] Chr2:188995786 [GRCh38]
Chr2:189860512 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2924G>C (p.Gly975Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002439992] Chr2:189004357 [GRCh38]
Chr2:189869083 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002380919] Chr2:188994551 [GRCh38]
Chr2:189859277 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633664]|Familial thoracic aortic aneurysm and aortic dissection [RCV002428247] Chr2:188999842 [GRCh38]
Chr2:189864568 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.3119C>T (p.Pro1040Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002300508] Chr2:189006370 [GRCh38]
Chr2:189871096 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.9C>A (p.Ser3Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002383130] Chr2:188974498 [GRCh38]
Chr2:189839224 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1287T>C (p.Gly429=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007297]|Familial thoracic aortic aneurysm and aortic dissection [RCV002383221] Chr2:188994326 [GRCh38]
Chr2:189859052 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.333+2T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002326485] Chr2:188985249 [GRCh38]
Chr2:189849975 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1079G>A (p.Gly360Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424091] Chr2:188993389 [GRCh38]
Chr2:189858115 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4275C>T (p.Ser1425=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330061] Chr2:189011648 [GRCh38]
Chr2:189876374 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1280T>A (p.Leu427Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376651] Chr2:188994319 [GRCh38]
Chr2:189859045 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1186G>A (p.Gly396Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340306]|not provided [RCV003128861] Chr2:188994074 [GRCh38]
Chr2:189858800 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2484G>T (p.Gly828=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003101871]|Familial thoracic aortic aneurysm and aortic dissection [RCV002430836] Chr2:189002993 [GRCh38]
Chr2:189867719 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+4_582+7dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002353155] Chr2:188988134..188988135 [GRCh38]
Chr2:189852860..189852861 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1706C>G (p.Ser569Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002298242] Chr2:188996441 [GRCh38]
Chr2:189861167 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1819C>A (p.Pro607Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002410309] Chr2:188997339 [GRCh38]
Chr2:189862065 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003098032]|not specified [RCV002302615] Chr2:189010841 [GRCh38]
Chr2:189875567 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3374G>A (p.Gly1125Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002451769] Chr2:189007895 [GRCh38]
Chr2:189872621 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2489C>G (p.Pro830Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002430896] Chr2:189002998 [GRCh38]
Chr2:189867724 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1500A>G (p.Pro500=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633655]|Familial thoracic aortic aneurysm and aortic dissection [RCV002389920] Chr2:188995090 [GRCh38]
Chr2:189859816 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3740G>C (p.Ser1247Thr) single nucleotide variant not specified [RCV002302613] Chr2:189009138 [GRCh38]
Chr2:189873864 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4261A>T (p.Thr1421Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329950] Chr2:189011634 [GRCh38]
Chr2:189876360 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1608+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394784] Chr2:188995791 [GRCh38]
Chr2:189860517 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.576T>C (p.Gly192=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359654] Chr2:188988128 [GRCh38]
Chr2:189852854 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2284G>T (p.Gly762Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002446141] Chr2:189001397 [GRCh38]
Chr2:189866123 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1056dup (p.Val353fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002398942] Chr2:188993364..188993365 [GRCh38]
Chr2:189858090..189858091 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2212G>C (p.Gly738Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002425885] Chr2:188999560 [GRCh38]
Chr2:189864286 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1676A>T (p.Glu559Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002405942]|not provided [RCV003138249] Chr2:188996411 [GRCh38]
Chr2:189861137 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4097A>G (p.Gln1366Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002303176] Chr2:189010733 [GRCh38]
Chr2:189875459 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.941C>G (p.Pro314Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002443400] Chr2:188991712 [GRCh38]
Chr2:189856438 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.77A>G (p.Glu26Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409894] Chr2:188974566 [GRCh38]
Chr2:189839292 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3689del (p.Asn1230fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002346718] Chr2:189009086 [GRCh38]
Chr2:189873812 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2661+14A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002615292] Chr2:189003801 [GRCh38]
Chr2:189868527 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3617C>T (p.Ala1206Val) single nucleotide variant not provided [RCV002462634] Chr2:189009015 [GRCh38]
Chr2:189873741 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3907A>T (p.Ile1303Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002751484] Chr2:189010261 [GRCh38]
Chr2:189874987 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1187G>A (p.Gly396Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002771278] Chr2:188994075 [GRCh38]
Chr2:189858801 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.977G>A (p.Arg326Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002970884] Chr2:188992209 [GRCh38]
Chr2:189856935 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2823+10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002727297] Chr2:189004153 [GRCh38]
Chr2:189868879 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1079G>T (p.Gly360Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002972038] Chr2:188993389 [GRCh38]
Chr2:189858115 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.18A>C (p.Gln6His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003095544] Chr2:188974507 [GRCh38]
Chr2:189839233 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3697G>A (p.Glu1233Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003076253] Chr2:189009095 [GRCh38]
Chr2:189873821 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3363+18G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003076005] Chr2:189007625 [GRCh38]
Chr2:189872351 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4046T>G (p.Val1349Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002818966] Chr2:189010682 [GRCh38]
Chr2:189875408 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3143_3160dup (p.Gly1053_Pro1054insHisProGlyProProGly) duplication Ehlers-Danlos syndrome, type 4 [RCV002837721] Chr2:189006386..189006387 [GRCh38]
Chr2:189871112..189871113 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2299A>G (p.Ile767Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003076387] Chr2:189001412 [GRCh38]
Chr2:189866138 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.777C>G (p.Phe259Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003016837] Chr2:188990339 [GRCh38]
Chr2:189855065 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002618859] Chr2:188994034 [GRCh38]
Chr2:189858760 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.507C>A (p.Leu169=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002865962] Chr2:188987118 [GRCh38]
Chr2:189851844 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4283T>C (p.Val1428Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002618598]|Familial thoracic aortic aneurysm and aortic dissection [RCV004065917] Chr2:189011656 [GRCh38]
Chr2:189876382 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2236C>T (p.Pro746Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002756232] Chr2:188999848 [GRCh38]
Chr2:189864574 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202-17G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002775609] Chr2:189006920 [GRCh38]
Chr2:189871646 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2628T>C (p.Gly876=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002993631] Chr2:189003754 [GRCh38]
Chr2:189868480 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.568C>T (p.His190Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002907744] Chr2:188988120 [GRCh38]
Chr2:189852846 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3885T>G (p.Asn1295Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002838895] Chr2:189010239 [GRCh38]
Chr2:189874965 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2391+16A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002971861] Chr2:189001605 [GRCh38]
Chr2:189866331 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3039+8G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003033705] Chr2:189005465 [GRCh38]
Chr2:189870191 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3749G>A (p.Ser1250Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003075476] Chr2:189009147 [GRCh38]
Chr2:189873873 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.500dup (p.Gly168fs) duplication Ehlers-Danlos syndrome, type 4 [RCV003012068] Chr2:188987109..188987110 [GRCh38]
Chr2:189851835..189851836 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1348-16del deletion Ehlers-Danlos syndrome, type 4 [RCV002881472] Chr2:188994708 [GRCh38]
Chr2:189859434 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002510237] Chr2:188984797 [GRCh38]
Chr2:189849523 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.448-6C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002613995] Chr2:188987053 [GRCh38]
Chr2:189851779 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2886A>G (p.Pro962=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002880624] Chr2:189004319 [GRCh38]
Chr2:189869045 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2304T>C (p.Gly768=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002862988] Chr2:189001417 [GRCh38]
Chr2:189866143 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2084G>A (p.Arg695Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003074660] Chr2:188999346 [GRCh38]
Chr2:189864072 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2122-9T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002947133] Chr2:188999461 [GRCh38]
Chr2:189864187 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.53C>G (p.Pro18Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002618001] Chr2:188974542 [GRCh38]
Chr2:189839268 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1905del (p.Gly636fs) deletion Ehlers-Danlos syndrome, type 4 [RCV002837577] Chr2:188997735 [GRCh38]
Chr2:189862461 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2226C>A (p.Asp742Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002846315] Chr2:188999574 [GRCh38]
Chr2:189864300 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2867G>T (p.Arg956Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002927577] Chr2:189004300 [GRCh38]
Chr2:189869026 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4254+10A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002871383] Chr2:189010900 [GRCh38]
Chr2:189875626 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-15T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002740000] Chr2:188994709 [GRCh38]
Chr2:189859435 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3570T>A (p.Pro1190=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002871002] Chr2:189008968 [GRCh38]
Chr2:189873694 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.745-18T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002572089] Chr2:188990289 [GRCh38]
Chr2:189855015 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2389C>T (p.Pro797Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002619884] Chr2:189001587 [GRCh38]
Chr2:189866313 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+16A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003002405] Chr2:188996194 [GRCh38]
Chr2:189860920 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.302G>A (p.Gly101Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003077279]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528420]|not provided [RCV003108144] Chr2:188985216 [GRCh38]
Chr2:189849942 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1869+9A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002780398] Chr2:188997398 [GRCh38]
Chr2:189862124 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1354G>T (p.Ala452Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002636538] Chr2:188994730 [GRCh38]
Chr2:189859456 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.785_786insTTT (p.Met262delinsIleLeu) insertion Ehlers-Danlos syndrome, type 4 [RCV003035571] Chr2:188990346..188990347 [GRCh38]
Chr2:189855072..189855073 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.690+12A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002866775] Chr2:188989461 [GRCh38]
Chr2:189854187 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-14_80-6dup duplication Ehlers-Danlos syndrome, type 4 [RCV002949132] Chr2:188984744..188984745 [GRCh38]
Chr2:189849470..189849471 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.55A>T (p.Thr19Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002796601]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528413] Chr2:188974544 [GRCh38]
Chr2:189839270 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3417+7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002690591] Chr2:189007945 [GRCh38]
Chr2:189872671 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3532C>G (p.Pro1178Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002999080] Chr2:189008930 [GRCh38]
Chr2:189873656 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2541T>C (p.Gly847=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002637167] Chr2:189003050 [GRCh38]
Chr2:189867776 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1977+16T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003036509] Chr2:188998335 [GRCh38]
Chr2:189863061 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1923+9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003077868] Chr2:188997762 [GRCh38]
Chr2:189862488 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2321G>A (p.Gly774Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002848091] Chr2:189001434 [GRCh38]
Chr2:189866160 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.997-15A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002976405] Chr2:188992872 [GRCh38]
Chr2:189857598 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2153C>T (p.Ala718Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002795512] Chr2:188999501 [GRCh38]
Chr2:189864227 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2554-6A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002885866] Chr2:189003405 [GRCh38]
Chr2:189868131 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4396T>C (p.Leu1466=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002591730] Chr2:189011769 [GRCh38]
Chr2:189876495 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4007T>G (p.Phe1336Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002952387] Chr2:189010361 [GRCh38]
Chr2:189875087 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.447G>A (p.Gln149=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003020753] Chr2:188985778 [GRCh38]
Chr2:189850504 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3694G>C (p.Asp1232His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002591991] Chr2:189009092 [GRCh38]
Chr2:189873818 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.951+19A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002952804] Chr2:188991741 [GRCh38]
Chr2:189856467 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.529-8C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003080870]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528427] Chr2:188988073 [GRCh38]
Chr2:189852799 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.335G>A (p.Gly112Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003054814] Chr2:188985666 [GRCh38]
Chr2:189850392 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1194+15C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003021635] Chr2:188994097 [GRCh38]
Chr2:189858823 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3392G>T (p.Gly1131Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002848070] Chr2:189007913 [GRCh38]
Chr2:189872639 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs) deletion Ehlers-Danlos syndrome, type 4 [RCV002913395] Chr2:189010860..189010867 [GRCh38]
Chr2:189875586..189875593 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2932-8G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002952904] Chr2:189005342 [GRCh38]
Chr2:189870068 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4011+17del deletion Ehlers-Danlos syndrome, type 4 [RCV002760698] Chr2:189010381 [GRCh38]
Chr2:189875107 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002923153] Chr2:189001450 [GRCh38]
Chr2:189866176 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1116A>G (p.Gly372=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002621181] Chr2:188993426 [GRCh38]
Chr2:189858152 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3876A>G (p.Val1292=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002870951] Chr2:189010230 [GRCh38]
Chr2:189874956 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3885T>C (p.Asn1295=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003019326] Chr2:189010239 [GRCh38]
Chr2:189874965 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3040-8T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003040412] Chr2:189006198 [GRCh38]
Chr2:189870924 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2253T>C (p.Ala751=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002624618] Chr2:188999865 [GRCh38]
Chr2:189864591 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1064C>A (p.Pro355His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003086017] Chr2:188993374 [GRCh38]
Chr2:189858100 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3314T>G (p.Ile1105Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002668026] Chr2:189007558 [GRCh38]
Chr2:189872284 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1608+20T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002872006] Chr2:188995810 [GRCh38]
Chr2:189860536 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002876309] Chr2:189006917 [GRCh38]
Chr2:189871643 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2446-12T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002791136] Chr2:189002943 [GRCh38]
Chr2:189867669 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.636+11A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003084504] Chr2:188988654 [GRCh38]
Chr2:189853380 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3640G>A (p.Gly1214Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003043359] Chr2:189009038 [GRCh38]
Chr2:189873764 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003059573] Chr2:188990316 [GRCh38]
Chr2:189855042 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1924-13_1924-2del deletion Ehlers-Danlos syndrome, type 4 [RCV003042133] Chr2:188998251..188998262 [GRCh38]
Chr2:189862977..189862988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1816G>T (p.Gly606Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003057843] Chr2:188997336 [GRCh38]
Chr2:189862062 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2034T>C (p.Gly678=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003005604] Chr2:188999296 [GRCh38]
Chr2:189864022 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.515A>G (p.Tyr172Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002574454] Chr2:188987126 [GRCh38]
Chr2:189851852 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2283+15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002595778] Chr2:188999910 [GRCh38]
Chr2:189864636 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1454G>A (p.Arg485Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003056050] Chr2:188994830 [GRCh38]
Chr2:189859556 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3824-18T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003084159] Chr2:189010160 [GRCh38]
Chr2:189874886 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4011G>T (p.Gln1337His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003023170] Chr2:189010365 [GRCh38]
Chr2:189875091 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.876A>G (p.Glu292=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002786689]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528412] Chr2:188991510 [GRCh38]
Chr2:189856236 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+18T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002595837] Chr2:189007008 [GRCh38]
Chr2:189871734 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4078C>A (p.Leu1360Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002574041] Chr2:189010714 [GRCh38]
Chr2:189875440 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-13T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003082266] Chr2:188996385 [GRCh38]
Chr2:189861111 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1093C>T (p.Pro365Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002572887] Chr2:188993403 [GRCh38]
Chr2:189858129 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2023-17A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002875817] Chr2:188999268 [GRCh38]
Chr2:189863994 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1072T>C (p.Ser358Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002740609] Chr2:188993382 [GRCh38]
Chr2:189858108 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1348-8T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002595475] Chr2:188994716 [GRCh38]
Chr2:189859442 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.678T>C (p.Pro226=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003082517] Chr2:188989437 [GRCh38]
Chr2:189854163 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003022385] Chr2:188984830 [GRCh38]
Chr2:189849556 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3752C>T (p.Pro1251Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002917566] Chr2:189009150 [GRCh38]
Chr2:189873876 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1761+7T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002918262] Chr2:188996503 [GRCh38]
Chr2:189861229 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1869+13A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002624689] Chr2:188997402 [GRCh38]
Chr2:189862128 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3497G>C (p.Arg1166Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003005984] Chr2:189008114 [GRCh38]
Chr2:189872840 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1905T>C (p.Pro635=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002575946]|Familial thoracic aortic aneurysm and aortic dissection [RCV004064324] Chr2:188997735 [GRCh38]
Chr2:189862461 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002720861]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528410] Chr2:188995682 [GRCh38]
Chr2:189860408 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1455+18C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003090593] Chr2:188994849 [GRCh38]
Chr2:189859575 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+4A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002811429] Chr2:188990364 [GRCh38]
Chr2:189855090 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.745-3T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003091768] Chr2:188990304 [GRCh38]
Chr2:189855030 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.662T>C (p.Ile221Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003009868] Chr2:188989421 [GRCh38]
Chr2:189854147 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-18T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002811712] Chr2:189011610 [GRCh38]
Chr2:189876336 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2085A>G (p.Arg695=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003065056] Chr2:188999347 [GRCh38]
Chr2:189864073 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3412C>T (p.Pro1138Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002938974] Chr2:189007933 [GRCh38]
Chr2:189872659 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1270G>T (p.Ala424Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003065689] Chr2:188994309 [GRCh38]
Chr2:189859035 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002651576] Chr2:188999366 [GRCh38]
Chr2:189864092 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1438G>A (p.Gly480Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003011215] Chr2:188994814 [GRCh38]
Chr2:189859540 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3957T>C (p.Ser1319=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002835123] Chr2:189010311 [GRCh38]
Chr2:189875037 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2230-18T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002581355] Chr2:188999824 [GRCh38]
Chr2:189864550 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2888del (p.Gly963fs) deletion Ehlers-Danlos syndrome, type 4 [RCV003030618] Chr2:189004320 [GRCh38]
Chr2:189869046 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3989A>G (p.Glu1330Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004122126] Chr2:189010343 [GRCh38]
Chr2:189875069 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3656A>G (p.Tyr1219Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002807247] Chr2:189009054 [GRCh38]
Chr2:189873780 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1050+12T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003044381] Chr2:188992952 [GRCh38]
Chr2:189857678 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1366G>A (p.Gly456Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002877536] Chr2:188994742 [GRCh38]
Chr2:189859468 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4012-6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004092316] Chr2:189010642 [GRCh38]
Chr2:189875368 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978-18A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002933627] Chr2:188998656 [GRCh38]
Chr2:189863382 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1675G>A (p.Glu559Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003088400]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528425] Chr2:188996410 [GRCh38]
Chr2:189861136 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1213G>A (p.Gly405Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002856505] Chr2:188994252 [GRCh38]
Chr2:189858978 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002649397] Chr2:189008978 [GRCh38]
Chr2:189873704 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.745-3T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002988544] Chr2:188990304 [GRCh38]
Chr2:189855030 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3911G>C (p.Ser1304Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003061499] Chr2:189010265 [GRCh38]
Chr2:189874991 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2931+3G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002877484] Chr2:189004367 [GRCh38]
Chr2:189869093 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-27_691-8del deletion Ehlers-Danlos syndrome, type 4 [RCV002834162] Chr2:188990068..188990087 [GRCh38]
Chr2:189854794..189854813 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2234A>T (p.Glu745Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002963112]|Familial thoracic aortic aneurysm and aortic dissection [RCV003274117] Chr2:188999846 [GRCh38]
Chr2:189864572 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1009C>T (p.Pro337Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003061149]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528421] Chr2:188992899 [GRCh38]
Chr2:189857625 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.87A>G (p.Glu29=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002671338] Chr2:188984767 [GRCh38]
Chr2:189849493 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2023-17A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002714909] Chr2:188999268 [GRCh38]
Chr2:189863994 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1348-5_1348-4dup duplication Ehlers-Danlos syndrome, type 4 [RCV002922435] Chr2:188994708..188994709 [GRCh38]
Chr2:189859434..189859435 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3418-19T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002576869] Chr2:189008016 [GRCh38]
Chr2:189872742 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2685C>T (p.Pro895=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002857075] Chr2:189004005 [GRCh38]
Chr2:189868731 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3729A>G (p.Gly1243=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002598830] Chr2:189009127 [GRCh38]
Chr2:189873853 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2745C>T (p.Gly915=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003087286] Chr2:189004065 [GRCh38]
Chr2:189868791 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003009770] Chr2:189011644 [GRCh38]
Chr2:189876370 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2283+9T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002599149] Chr2:188999904 [GRCh38]
Chr2:189864630 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4298C>T (p.Thr1433Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003046286] Chr2:189011671 [GRCh38]
Chr2:189876397 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.447+7C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003029297] Chr2:188985785 [GRCh38]
Chr2:189850511 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.727G>C (p.Gly243Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003044221] Chr2:188990132 [GRCh38]
Chr2:189854858 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.555T>C (p.Pro185=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003063948] Chr2:188988107 [GRCh38]
Chr2:189852833 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-14C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003089944] Chr2:188997151 [GRCh38]
Chr2:189861877 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2544T>C (p.Ser848=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002581854] Chr2:189003053 [GRCh38]
Chr2:189867779 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.314A>G (p.Gln105Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004152630] Chr2:188985228 [GRCh38]
Chr2:189849954 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1865C>T (p.Pro622Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002900150] Chr2:188997385 [GRCh38]
Chr2:189862111 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4367T>C (p.Phe1456Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002933752]|not provided [RCV003138406] Chr2:189011740 [GRCh38]
Chr2:189876466 [GRCh37]
Chr2:2q32.2		 likely pathogenic|uncertain significance
NM_000090.4(COL3A1):c.2149G>C (p.Gly717Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002899290] Chr2:188999497 [GRCh38]
Chr2:189864223 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1789G>A (p.Gly597Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002811384] Chr2:188997192 [GRCh38]
Chr2:189861918 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.869C>T (p.Pro290Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003089747] Chr2:188991503 [GRCh38]
Chr2:189856229 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2801del (p.Ser934fs) deletion Ehlers-Danlos syndrome, type 4 [RCV003030570] Chr2:189004121 [GRCh38]
Chr2:189868847 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3417+9C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003028870] Chr2:189007947 [GRCh38]
Chr2:189872673 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1321G>A (p.Gly441Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002899010] Chr2:188994568 [GRCh38]
Chr2:189859294 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.347T>C (p.Ile116Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002833033] Chr2:188985678 [GRCh38]
Chr2:189850404 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2283+5G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002651577] Chr2:188999900 [GRCh38]
Chr2:189864626 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4011+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002651579] Chr2:189010366 [GRCh38]
Chr2:189875092 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1237C>T (p.Arg413Trp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002632620] Chr2:188994276 [GRCh38]
Chr2:189859002 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.690+11A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002603397] Chr2:188989460 [GRCh38]
Chr2:189854186 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3824-13T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002944153] Chr2:189010165 [GRCh38]
Chr2:189874891 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.973G>T (p.Ala325Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004098503] Chr2:188992205 [GRCh38]
Chr2:189856931 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2932-10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003066565] Chr2:189005340 [GRCh38]
Chr2:189870066 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2601T>C (p.Gly867=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002584187]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528406] Chr2:189003458 [GRCh38]
Chr2:189868184 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.996+13C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002943272] Chr2:188992241 [GRCh38]
Chr2:189856967 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2446-10T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002633238] Chr2:189002945 [GRCh38]
Chr2:189867671 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.448-17T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002608256] Chr2:188987042 [GRCh38]
Chr2:189851768 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2079A>T (p.Gly693=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002607493] Chr2:188999341 [GRCh38]
Chr2:189864067 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1509+18C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003072793] Chr2:188995117 [GRCh38]
Chr2:189859843 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2268G>A (p.Gly756=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002585022] Chr2:188999880 [GRCh38]
Chr2:189864606 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.283-20_283-17del deletion Ehlers-Danlos syndrome, type 4 [RCV003069484] Chr2:188985175..188985178 [GRCh38]
Chr2:189849901..189849904 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3202-9dup duplication Ehlers-Danlos syndrome, type 4 [RCV002586194] Chr2:189006924..189006925 [GRCh38]
Chr2:189871650..189871651 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2850T>C (p.Ala950=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002588077] Chr2:189004283 [GRCh38]
Chr2:189869009 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2445+14T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002603608] Chr2:189002365 [GRCh38]
Chr2:189867091 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1345C>T (p.Arg449Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003050774]|Familial thoracic aortic aneurysm and aortic dissection [RCV003150582] Chr2:188994592 [GRCh38]
Chr2:189859318 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002588472] Chr2:188990095 [GRCh38]
Chr2:189854821 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1517C>T (p.Ala506Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002612800]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528407] Chr2:188995699 [GRCh38]
Chr2:189860425 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.319C>A (p.Pro107Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150743] Chr2:188985233 [GRCh38]
Chr2:189849959 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.283-10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002588517] Chr2:188985187 [GRCh38]
Chr2:189849913 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.414T>C (p.Pro138=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002609227] Chr2:188985745 [GRCh38]
Chr2:189850471 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.166G>A (p.Asp56Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003068230] Chr2:188984846 [GRCh38]
Chr2:189849572 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3887T>C (p.Met1296Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003070160] Chr2:189010241 [GRCh38]
Chr2:189874967 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2824-8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002610093] Chr2:189004249 [GRCh38]
Chr2:189868975 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.898-4G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002612143]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528430] Chr2:188991665 [GRCh38]
Chr2:189856391 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_000090.4(COL3A1):c.3619G>A (p.Gly1207Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002587934] Chr2:189009017 [GRCh38]
Chr2:189873743 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1128C>A (p.His376Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV002589990] Chr2:188993438 [GRCh38]
Chr2:189858164 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.329A>T (p.Asp110Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150744] Chr2:188985243 [GRCh38]
Chr2:189849969 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1701G>T (p.Gly567=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633703]|Familial thoracic aortic aneurysm and aortic dissection [RCV003278139] Chr2:188996436 [GRCh38]
Chr2:189861162 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1818T>G (p.Gly606=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172425] Chr2:188997338 [GRCh38]
Chr2:189862064 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2199del (p.Gly735fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003172426] Chr2:188999547 [GRCh38]
Chr2:189864273 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2853G>A (p.Gly951=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009644]|Familial thoracic aortic aneurysm and aortic dissection [RCV003172427] Chr2:189004286 [GRCh38]
Chr2:189869012 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.528+5G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172428] Chr2:188987144 [GRCh38]
Chr2:189851870 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1826G>A (p.Gly609Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633695]|not provided [RCV003223067] Chr2:188997346 [GRCh38]
Chr2:189862072 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3590G>C (p.Cys1197Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003274358]|not provided [RCV003228289] Chr2:189008988 [GRCh38]
Chr2:189873714 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1940G>A (p.Gly647Asp) single nucleotide variant not provided [RCV003141689] Chr2:188998282 [GRCh38]
Chr2:189863008 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.841C>G (p.Pro281Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523145]|not provided [RCV003141690] Chr2:188991046 [GRCh38]
Chr2:189855772 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.245G>A (p.Gly82Glu) single nucleotide variant not provided [RCV003141692] Chr2:188984925 [GRCh38]
Chr2:189849651 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1857C>T (p.Pro619=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003140414] Chr2:188997377 [GRCh38]
Chr2:189862103 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.396del (p.Gly133fs) deletion Ehlers-Danlos syndrome, type 4 [RCV003228667] Chr2:188985727 [GRCh38]
Chr2:189850453 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2671G>A (p.Gly891Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523157]|not provided [RCV003321445] Chr2:189003991 [GRCh38]
Chr2:189868717 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003777324]|not provided [RCV003322034] Chr2:188991693 [GRCh38]
Chr2:189856419 [GRCh37]
Chr2:2q32.2		 pathogenic|likely pathogenic
NM_000090.4(COL3A1):c.660T>C (p.Ala220=) single nucleotide variant not specified [RCV003324172] Chr2:188989419 [GRCh38]
Chr2:189854145 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2607+1G>T single nucleotide variant not provided [RCV003322211] Chr2:189003465 [GRCh38]
Chr2:189868191 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.334-11C>G single nucleotide variant not specified [RCV003324159] Chr2:188985654 [GRCh38]
Chr2:189850380 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1275T>C (p.Pro425=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003310349] Chr2:188994314 [GRCh38]
Chr2:189859040 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3198A>C (p.Glu1066Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003306669] Chr2:189006449 [GRCh38]
Chr2:189871175 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2012C>T (p.Pro671Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003306670] Chr2:188998708 [GRCh38]
Chr2:189863434 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.690T>C (p.Asp230=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003306671] Chr2:188989449 [GRCh38]
Chr2:189854175 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3850G>A (p.Gly1284Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003777311]|not provided [RCV003319760] Chr2:189010204 [GRCh38]
Chr2:189874930 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2607+14C>T single nucleotide variant not specified [RCV003324178] Chr2:189003478 [GRCh38]
Chr2:189868204 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1923+1G>T single nucleotide variant not provided [RCV003322171] Chr2:188997754 [GRCh38]
Chr2:189862480 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.283-7T>G single nucleotide variant not provided [RCV003318841] Chr2:188985190 [GRCh38]
Chr2:189849916 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_000090.4(COL3A1):c.3094G>A (p.Gly1032Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003326323] Chr2:189006345 [GRCh38]
Chr2:189871071 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4344C>T (p.Asp1448=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003341831] Chr2:189011717 [GRCh38]
Chr2:189876443 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1867A>G (p.Thr623Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011271]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341828] Chr2:188997387 [GRCh38]
Chr2:189862113 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1386C>T (p.Gly462=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633708]|Familial thoracic aortic aneurysm and aortic dissection [RCV003341829]|not provided [RCV003436019] Chr2:188994762 [GRCh38]
Chr2:189859488 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2109C>A (p.Pro703=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003341830] Chr2:188999371 [GRCh38]
Chr2:189864097 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2967T>C (p.Ser989=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003341832] Chr2:189005385 [GRCh38]
Chr2:189870111 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+2_582+16del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003358413] Chr2:188988134..188988148 [GRCh38]
Chr2:189852860..189852874 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3248G>A (p.Gly1083Asp) single nucleotide variant not provided [RCV003332472] Chr2:189006983 [GRCh38]
Chr2:189871709 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3379C>T (p.Gln1127Ter) single nucleotide variant not provided [RCV003331517] Chr2:189007900 [GRCh38]
Chr2:189872626 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3252T>C (p.Ala1084=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003387038] Chr2:189006987 [GRCh38]
Chr2:189871713 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3488C>T (p.Pro1163Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003455842] Chr2:189008105 [GRCh38]
Chr2:189872831 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2524G>A (p.Ala842Thr) single nucleotide variant not provided [RCV003457315] Chr2:189003033 [GRCh38]
Chr2:189867759 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633728]|not specified [RCV003479844] Chr2:189010818 [GRCh38]
Chr2:189875544 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1974A>G (p.Glu658=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003874207] Chr2:188998316 [GRCh38]
Chr2:189863042 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.707C>T (p.Pro236Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003875122] Chr2:188990112 [GRCh38]
Chr2:189854838 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2824-6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003874546] Chr2:189004251 [GRCh38]
Chr2:189868977 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1662+9A>G single nucleotide variant not provided [RCV003481670] Chr2:188996187 [GRCh38]
Chr2:189860913 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1316C>T (p.Ala439Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003875386] Chr2:188994563 [GRCh38]
Chr2:189859289 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1138C>T (p.Gln380Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003485914] Chr2:188993448 [GRCh38]
Chr2:189858174 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.661A>G (p.Ile221Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633731]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528733] Chr2:188989420 [GRCh38]
Chr2:189854146 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2308C>T (p.Pro770Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633732]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528758] Chr2:189001421 [GRCh38]
Chr2:189866147 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1762-18C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003872678] Chr2:188997147 [GRCh38]
Chr2:189861873 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3823+15C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003872704] Chr2:189009236 [GRCh38]
Chr2:189873962 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1651C>A (p.Pro551Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011337]|not provided [RCV003481669] Chr2:188996167 [GRCh38]
Chr2:189860893 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2608-17A>G single nucleotide variant not specified [RCV003479706] Chr2:189003717 [GRCh38]
Chr2:189868443 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1924-14A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003779191]|not specified [RCV003479707] Chr2:188998252 [GRCh38]
Chr2:189862978 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2092_2098delinsACTGTT (p.Ala698fs) indel not provided [RCV003480462] Chr2:188999354..188999360 [GRCh38]
Chr2:189864080..189864086 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3378G>C (p.Gln1126His) single nucleotide variant not provided [RCV003481672] Chr2:189007899 [GRCh38]
Chr2:189872625 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2330G>A (p.Gly777Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003447757] Chr2:189001443 [GRCh38]
Chr2:189866169 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2458G>A (p.Glu820Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003482904] Chr2:189002967 [GRCh38]
Chr2:189867693 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2822C>T (p.Pro941Leu) single nucleotide variant not provided [RCV003481671] Chr2:189004142 [GRCh38]
Chr2:189868868 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2095G>T (p.Gly699Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003412535] Chr2:188999357 [GRCh38]
Chr2:189864083 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.126A>C (p.Arg42Ser) single nucleotide variant COL3A1-related disorder [RCV004528749] Chr2:188984806 [GRCh38]
Chr2:189849532 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3144T>A (p.His1048Gln) single nucleotide variant COL3A1-related disorder [RCV004531640] Chr2:189006395 [GRCh38]
Chr2:189871121 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1609-5_1615del deletion COL3A1-related disorder [RCV004528600] Chr2:188996119..188996130 [GRCh38]
Chr2:189860845..189860856 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4023C>T (p.Gly1341=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003388231] Chr2:189010659 [GRCh38]
Chr2:189875385 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2057C>A (p.Pro686His) single nucleotide variant COL3A1-related disorder [RCV004534278] Chr2:188999319 [GRCh38]
Chr2:189864045 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1817G>A (p.Gly606Asp) single nucleotide variant COL3A1-related disorder [RCV004536680] Chr2:188997337 [GRCh38]
Chr2:189862063 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2092_2097delinsACTGG (p.Ala698fs) indel COL3A1-related disorder [RCV004529355] Chr2:188999354..188999359 [GRCh38]
Chr2:189864080..189864085 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.636+1G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003447664] Chr2:188988644 [GRCh38]
Chr2:189853370 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2125G>A (p.Ala709Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003486437] Chr2:188999473 [GRCh38]
Chr2:189864199 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2126C>A (p.Ala709Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003876625] Chr2:188999474 [GRCh38]
Chr2:189864200 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3202-15A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525049] Chr2:189006922 [GRCh38]
Chr2:189871648 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1294-12G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525153] Chr2:188994529 [GRCh38]
Chr2:189859255 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2053C>T (p.Pro685Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525166] Chr2:188999315 [GRCh38]
Chr2:189864041 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3094-8G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525233] Chr2:189006337 [GRCh38]
Chr2:189871063 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.729A>G (p.Gly243=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525239] Chr2:188990134 [GRCh38]
Chr2:189854860 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1150G>C (p.Gly384Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525256] Chr2:188994038 [GRCh38]
Chr2:189858764 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1150-11del deletion Ehlers-Danlos syndrome, type 4 [RCV003824555] Chr2:188994022 [GRCh38]
Chr2:189858748 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.679G>T (p.Ala227Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528734] Chr2:188989438 [GRCh38]
Chr2:189854164 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.904A>G (p.Arg302Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011596]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528736] Chr2:188991675 [GRCh38]
Chr2:189856401 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1622G>C (p.Ser541Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528748] Chr2:188996138 [GRCh38]
Chr2:189860864 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2284-13T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528757] Chr2:189001384 [GRCh38]
Chr2:189866110 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2867G>A (p.Arg956Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011600]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528767] Chr2:189004300 [GRCh38]
Chr2:189869026 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3100C>A (p.Arg1034Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528774] Chr2:189006351 [GRCh38]
Chr2:189871077 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3393C>T (p.Gly1131=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528786] Chr2:189007914 [GRCh38]
Chr2:189872640 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3526-4C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528788] Chr2:189008920 [GRCh38]
Chr2:189873646 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.740C>T (p.Pro247Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003848961] Chr2:188990145 [GRCh38]
Chr2:189854871 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.540C>A (p.Gly180=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528729] Chr2:188988092 [GRCh38]
Chr2:189852818 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1401T>C (p.Asp467=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528743] Chr2:188994777 [GRCh38]
Chr2:189859503 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1978-6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528755] Chr2:188998668 [GRCh38]
Chr2:189863394 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2344G>A (p.Gly782Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528759] Chr2:189001542 [GRCh38]
Chr2:189866268 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2372C>T (p.Ala791Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528760] Chr2:189001570 [GRCh38]
Chr2:189866296 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2824-12T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528766] Chr2:189004245 [GRCh38]
Chr2:189868971 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2903G>A (p.Arg968Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011601]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528769] Chr2:189004336 [GRCh38]
Chr2:189869062 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2992C>G (p.Gln998Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528773] Chr2:189005410 [GRCh38]
Chr2:189870136 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3341A>G (p.Asn1114Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528782] Chr2:189007585 [GRCh38]
Chr2:189872311 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3771C>T (p.Asn1257=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528792] Chr2:189009169 [GRCh38]
Chr2:189873895 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1663-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003485915] Chr2:188996397 [GRCh38]
Chr2:189861123 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525280] Chr2:188996426 [GRCh38]
Chr2:189861152 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525283] Chr2:189005414 [GRCh38]
Chr2:189870140 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4012-11C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003876106] Chr2:189010637 [GRCh38]
Chr2:189875363 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.3525+10C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003486438] Chr2:189008152 [GRCh38]
Chr2:189872878 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1347+10A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003880022] Chr2:188994604 [GRCh38]
Chr2:189859330 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2553+21_2553+22del microsatellite Ehlers-Danlos syndrome, type 4 [RCV003524609] Chr2:189003080..189003081 [GRCh38]
Chr2:189867806..189867807 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524644] Chr2:189005432 [GRCh38]
Chr2:189870158 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3710C>T (p.Ser1237Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524705] Chr2:189009108 [GRCh38]
Chr2:189873834 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.493G>C (p.Ala165Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528726] Chr2:188987104 [GRCh38]
Chr2:189851830 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.522A>T (p.Gly174=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528728] Chr2:188987133 [GRCh38]
Chr2:189851859 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2266G>A (p.Gly756Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524757] Chr2:188999878 [GRCh38]
Chr2:189864604 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.598C>A (p.Gln200Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011593]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528730] Chr2:188988605 [GRCh38]
Chr2:189853331 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.627T>A (p.Ala209=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011595]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528731] Chr2:188988634 [GRCh38]
Chr2:189853360 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.852G>A (p.Lys284=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528735] Chr2:188991057 [GRCh38]
Chr2:189855783 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.927A>G (p.Gly309=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528737] Chr2:188991698 [GRCh38]
Chr2:189856424 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1050+3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528738] Chr2:188992943 [GRCh38]
Chr2:189857669 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1091C>T (p.Ala364Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528739] Chr2:188993401 [GRCh38]
Chr2:189858127 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1149+6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528740] Chr2:188993465 [GRCh38]
Chr2:189858191 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1265A>G (p.Asn422Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528742] Chr2:188994304 [GRCh38]
Chr2:189859030 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1472G>C (p.Arg491Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528746] Chr2:188995062 [GRCh38]
Chr2:189859788 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1508A>T (p.Lys503Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528747] Chr2:188995098 [GRCh38]
Chr2:189859824 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-9T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528751] Chr2:188996389 [GRCh38]
Chr2:189861115 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1856C>G (p.Pro619Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528752] Chr2:188997376 [GRCh38]
Chr2:189862102 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1975C>T (p.Pro659Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528754] Chr2:188998317 [GRCh38]
Chr2:189863043 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2737G>C (p.Ala913Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528763] Chr2:189004057 [GRCh38]
Chr2:189868783 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2791G>C (p.Glu931Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528764] Chr2:189004111 [GRCh38]
Chr2:189868837 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2823+5_2823+8del microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV003528765] Chr2:189004143..189004146 [GRCh38]
Chr2:189868869..189868872 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3134C>T (p.Ala1045Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528775] Chr2:189006385 [GRCh38]
Chr2:189871111 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3186T>C (p.Gly1062=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011602]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528776] Chr2:189006437 [GRCh38]
Chr2:189871163 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3363+4A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528783] Chr2:189007611 [GRCh38]
Chr2:189872337 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3367C>G (p.Pro1123Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011604]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528784] Chr2:189007888 [GRCh38]
Chr2:189872614 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3628G>A (p.Gly1210Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528790] Chr2:189009026 [GRCh38]
Chr2:189873752 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3907A>G (p.Ile1303Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528795] Chr2:189010261 [GRCh38]
Chr2:189874987 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3996G>A (p.Met1332Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528796] Chr2:189010350 [GRCh38]
Chr2:189875076 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4321A>G (p.Ile1441Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011606]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528799] Chr2:189011694 [GRCh38]
Chr2:189876420 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1873C>G (p.Pro625Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524898] Chr2:188997703 [GRCh38]
Chr2:189862429 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3089G>A (p.Gly1030Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524014]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528840] Chr2:189006255 [GRCh38]
Chr2:189870981 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.498A>T (p.Val166=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003879335] Chr2:188987109 [GRCh38]
Chr2:189851835 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3746T>C (p.Ile1249Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523857]|Familial thoracic aortic aneurysm and aortic dissection [RCV003529738] Chr2:189009144 [GRCh38]
Chr2:189873870 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3823+11T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525131] Chr2:189009232 [GRCh38]
Chr2:189873958 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2797G>T (p.Gly933Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003485917] Chr2:189004117 [GRCh38]
Chr2:189868843 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.257C>T (p.Ala86Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525223] Chr2:188984937 [GRCh38]
Chr2:189849663 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1151G>A (p.Gly384Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525279] Chr2:188994039 [GRCh38]
Chr2:189858765 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1718G>A (p.Gly573Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525281] Chr2:188996453 [GRCh38]
Chr2:189861179 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4017C>G (p.Ser1339Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003880426] Chr2:189010653 [GRCh38]
Chr2:189875379 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3824-13dup duplication Ehlers-Danlos syndrome, type 4 [RCV003878507] Chr2:189010159..189010160 [GRCh38]
Chr2:189874885..189874886 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.2745C>A (p.Gly915=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003829611] Chr2:189004065 [GRCh38]
Chr2:189868791 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.348T>C (p.Ile116=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528723] Chr2:188985679 [GRCh38]
Chr2:189850405 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.416G>C (p.Gly139Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528724] Chr2:188985747 [GRCh38]
Chr2:189850473 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.446A>T (p.Gln149Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011592]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528725] Chr2:188985777 [GRCh38]
Chr2:189850503 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.494C>T (p.Ala165Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528727] Chr2:188987105 [GRCh38]
Chr2:189851831 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.637-4T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528732] Chr2:188989392 [GRCh38]
Chr2:189854118 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1195-9T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528741] Chr2:188994225 [GRCh38]
Chr2:189858951 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1455+4C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528744] Chr2:188994835 [GRCh38]
Chr2:189859561 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1460C>T (p.Ala487Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528745] Chr2:188995050 [GRCh38]
Chr2:189859776 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1643A>T (p.Asp548Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011597]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528749] Chr2:188996159 [GRCh38]
Chr2:189860885 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1656G>T (p.Gly552=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011598]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528750] Chr2:188996172 [GRCh38]
Chr2:189860898 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1924-14A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528753] Chr2:188998252 [GRCh38]
Chr2:189862978 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2023-3C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528756] Chr2:188999282 [GRCh38]
Chr2:189864008 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2387G>T (p.Ser796Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528761] Chr2:189001585 [GRCh38]
Chr2:189866311 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2540G>A (p.Gly847Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528762] Chr2:189003049 [GRCh38]
Chr2:189867775 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2899C>T (p.Pro967Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528768] Chr2:189004332 [GRCh38]
Chr2:189869058 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2932-6A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528770] Chr2:189005344 [GRCh38]
Chr2:189870070 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2982C>T (p.Pro994=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528772] Chr2:189005400 [GRCh38]
Chr2:189870126 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3190A>G (p.Arg1064Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528777] Chr2:189006441 [GRCh38]
Chr2:189871167 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3201+3G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528778] Chr2:189006455 [GRCh38]
Chr2:189871181 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3255+11_3255+20dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003528779] Chr2:189006995..189006996 [GRCh38]
Chr2:189871721..189871722 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3272G>A (p.Arg1091His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011603]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528780] Chr2:189007516 [GRCh38]
Chr2:189872242 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3317A>G (p.Lys1106Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528781] Chr2:189007561 [GRCh38]
Chr2:189872287 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3388A>G (p.Ile1130Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528785] Chr2:189007909 [GRCh38]
Chr2:189872635 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3526-6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528787] Chr2:189008918 [GRCh38]
Chr2:189873644 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3601_3602delinsTT (p.Gly1201Leu) indel Familial thoracic aortic aneurysm and aortic dissection [RCV003528789] Chr2:189008999..189009000 [GRCh38]
Chr2:189873725..189873726 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3670C>T (p.Pro1224Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528791] Chr2:189009068 [GRCh38]
Chr2:189873794 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3868A>G (p.Ile1290Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011605]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528793] Chr2:189010222 [GRCh38]
Chr2:189874948 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3873G>C (p.Lys1291Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528794] Chr2:189010227 [GRCh38]
Chr2:189874953 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4046T>C (p.Val1349Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528797] Chr2:189010682 [GRCh38]
Chr2:189875408 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-5del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528798] Chr2:189011618 [GRCh38]
Chr2:189876344 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.583-14A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522446]|Familial thoracic aortic aneurysm and aortic dissection [RCV003529194] Chr2:188988576 [GRCh38]
Chr2:189853302 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000090.4(COL3A1):c.1158T>C (p.Pro386=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524734] Chr2:188994046 [GRCh38]
Chr2:189858772 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1778A>T (p.Asn593Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524836] Chr2:188997181 [GRCh38]
Chr2:189861907 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1762-12CTT[5] microsatellite Ehlers-Danlos syndrome, type 4 [RCV003525013] Chr2:188997152..188997153 [GRCh38]
Chr2:189861878..189861879 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2982C>G (p.Pro994=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633733]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528771] Chr2:189005400 [GRCh38]
Chr2:189870126 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-1G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003485916] Chr2:188997164 [GRCh38]
Chr2:189861890 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1051-8A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003878487] Chr2:188993353 [GRCh38]
Chr2:189858079 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.818G>A (p.Gly273Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522569]|not provided [RCV003738483] Chr2:188991023 [GRCh38]
Chr2:189855749 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1095T>C (p.Pro365=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525116] Chr2:188993405 [GRCh38]
Chr2:189858131 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4011+10del deletion not specified [RCV003489673] Chr2:189010374 [GRCh38]
Chr2:189875100 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3852A>T (p.Gly1284=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524695] Chr2:189010206 [GRCh38]
Chr2:189874932 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3985G>C (p.Gly1329Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524550] Chr2:189010339 [GRCh38]
Chr2:189875065 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2575G>A (p.Val859Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003525188] Chr2:189003432 [GRCh38]
Chr2:189868158 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.951+18C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003882655] Chr2:188991740 [GRCh38]
Chr2:189856466 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3291A>G (p.Thr1097=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524801] Chr2:189007535 [GRCh38]
Chr2:189872261 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2958_2959insCGT (p.Asn986_Gly987insArg) insertion Ehlers-Danlos syndrome, type 4 [RCV003524665] Chr2:189005376..189005377 [GRCh38]
Chr2:189870102..189870103 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-16T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003824995] Chr2:189011612 [GRCh38]
Chr2:189876338 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1771G>T (p.Gly591Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524837] Chr2:188997174 [GRCh38]
Chr2:189861900 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2716G>C (p.Gly906Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524929] Chr2:189004036 [GRCh38]
Chr2:189868762 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1840A>G (p.Thr614Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003875980] Chr2:188997360 [GRCh38]
Chr2:189862086 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4180G>C (p.Gly1394Arg) single nucleotide variant not provided [RCV003490598] Chr2:189010816 [GRCh38]
Chr2:189875542 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.79+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634724] Chr2:188974572 [GRCh38]
Chr2:189839298 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-19T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633413] Chr2:188996379 [GRCh38]
Chr2:189861105 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2445+15_2445+18del deletion Ehlers-Danlos syndrome, type 4 [RCV003634747] Chr2:189002363..189002366 [GRCh38]
Chr2:189867089..189867092 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2388C>G (p.Ser796Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524146] Chr2:189001586 [GRCh38]
Chr2:189866312 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.401C>T (p.Ser134Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633431] Chr2:188985732 [GRCh38]
Chr2:189850458 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2284-15T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633439] Chr2:189001382 [GRCh38]
Chr2:189866108 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.494C>A (p.Ala165Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633473] Chr2:188987105 [GRCh38]
Chr2:189851831 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3075T>C (p.Asp1025=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524175] Chr2:189006241 [GRCh38]
Chr2:189870967 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1872G>C (p.Gly624=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633478] Chr2:188997702 [GRCh38]
Chr2:189862428 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.62T>A (p.Ile21Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634847] Chr2:188974551 [GRCh38]
Chr2:189839277 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4015A>G (p.Ser1339Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003832798] Chr2:189010651 [GRCh38]
Chr2:189875377 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.852+1G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524223] Chr2:188991058 [GRCh38]
Chr2:189855784 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs) microsatellite Ehlers-Danlos syndrome, type 4 [RCV003634824] Chr2:189002301..189002304 [GRCh38]
Chr2:189867027..189867030 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2122-11C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523263] Chr2:188999459 [GRCh38]
Chr2:189864185 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1425A>T (p.Ala475=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634885] Chr2:188994801 [GRCh38]
Chr2:189859527 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2824-14A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634990] Chr2:189004243 [GRCh38]
Chr2:189868969 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter) microsatellite Ehlers-Danlos syndrome, type 4 [RCV003634954] Chr2:188989418..188989419 [GRCh38]
Chr2:189854144..189854145 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.443C>T (p.Pro148Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523355] Chr2:188985774 [GRCh38]
Chr2:189850500 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.582+20G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523302] Chr2:188988154 [GRCh38]
Chr2:189852880 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4011+16C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524319] Chr2:189010381 [GRCh38]
Chr2:189875107 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2906G>A (p.Gly969Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634946] Chr2:189004339 [GRCh38]
Chr2:189869065 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2631T>C (p.Ala877=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523311] Chr2:189003757 [GRCh38]
Chr2:189868483 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.333+14C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523313] Chr2:188985261 [GRCh38]
Chr2:189849987 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2824-15C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633738] Chr2:189004242 [GRCh38]
Chr2:189868968 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.637-13T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524371] Chr2:188989383 [GRCh38]
Chr2:189854109 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2230-18T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523426] Chr2:188999824 [GRCh38]
Chr2:189864550 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3025G>C (p.Glu1009Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633775] Chr2:189005443 [GRCh38]
Chr2:189870169 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.962_963insAAATGACGGTGCTCGAGG (p.Gly327_Ser328insAsnAspGlyAlaArgGly) insertion Ehlers-Danlos syndrome, type 4 [RCV003523432] Chr2:188992192..188992193 [GRCh38]
Chr2:189856918..189856919 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-9TA[3] microsatellite Ehlers-Danlos syndrome, type 4 [RCV003635147] Chr2:188994028..188994029 [GRCh38]
Chr2:189858754..189858755 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3065C>T (p.Pro1022Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523411] Chr2:189006231 [GRCh38]
Chr2:189870957 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1602A>C (p.Gly534=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524469] Chr2:188995784 [GRCh38]
Chr2:189860510 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3695A>G (p.Asp1232Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635125] Chr2:189009093 [GRCh38]
Chr2:189873819 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1455+12A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523446] Chr2:188994843 [GRCh38]
Chr2:189859569 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.852+16A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633923] Chr2:188991073 [GRCh38]
Chr2:189855799 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs) duplication Ehlers-Danlos syndrome, type 4 [RCV003635235] Chr2:189010358..189010359 [GRCh38]
Chr2:189875084..189875085 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2098C>A (p.Pro700Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523443] Chr2:188999360 [GRCh38]
Chr2:189864086 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1971G>A (p.Gly657=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523451] Chr2:188998313 [GRCh38]
Chr2:189863039 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1257C>G (p.Ala419=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523456] Chr2:188994296 [GRCh38]
Chr2:189859022 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1311T>C (p.Asn437=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524480]|Familial thoracic aortic aneurysm and aortic dissection [RCV004369403] Chr2:188994558 [GRCh38]
Chr2:189859284 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.529G>A (p.Gly177Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633926] Chr2:188988081 [GRCh38]
Chr2:189852807 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2554-11A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524522] Chr2:189003400 [GRCh38]
Chr2:189868126 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.583-4C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635034] Chr2:188988586 [GRCh38]
Chr2:189853312 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-9T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633981] Chr2:189011619 [GRCh38]
Chr2:189876345 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1293+19T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633966] Chr2:188994351 [GRCh38]
Chr2:189859077 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2661+9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634005] Chr2:189003796 [GRCh38]
Chr2:189868522 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635257] Chr2:189005443 [GRCh38]
Chr2:189870169 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.282+20_282+21del deletion Ehlers-Danlos syndrome, type 4 [RCV003635293] Chr2:188984981..188984982 [GRCh38]
Chr2:189849707..189849708 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.641C>T (p.Pro214Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633971] Chr2:188989400 [GRCh38]
Chr2:189854126 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3040-7dup duplication Ehlers-Danlos syndrome, type 4 [RCV003522169] Chr2:189006193..189006194 [GRCh38]
Chr2:189870919..189870920 [GRCh37]
Chr2:2q32.2		 benign
NM_000090.4(COL3A1):c.3823+4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634074] Chr2:189009225 [GRCh38]
Chr2:189873951 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.897+12T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635149] Chr2:188991543 [GRCh38]
Chr2:189856269 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-16C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634111] Chr2:189007869 [GRCh38]
Chr2:189872595 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs) deletion Ehlers-Danlos syndrome, type 4 [RCV003522258] Chr2:189008053 [GRCh38]
Chr2:189872779 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.636+12_636+15del deletion Ehlers-Danlos syndrome, type 4 [RCV003522269] Chr2:188988653..188988656 [GRCh38]
Chr2:189853379..189853382 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2283+17A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634072] Chr2:188999912 [GRCh38]
Chr2:189864638 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4373T>G (p.Val1458Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522253] Chr2:189011746 [GRCh38]
Chr2:189876472 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1348-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634140] Chr2:188994722 [GRCh38]
Chr2:189859448 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.4290A>C (p.Glu1430Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634078] Chr2:189011663 [GRCh38]
Chr2:189876389 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1486C>T (p.Pro496Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634155] Chr2:188995076 [GRCh38]
Chr2:189859802 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2021A>G (p.Lys674Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634165] Chr2:188998717 [GRCh38]
Chr2:189863443 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-4C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522469] Chr2:188990092 [GRCh38]
Chr2:189854818 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3823+16T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523675] Chr2:189009237 [GRCh38]
Chr2:189873963 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3477C>A (p.Pro1159=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523709] Chr2:189008094 [GRCh38]
Chr2:189872820 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3417+2T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634223] Chr2:189007940 [GRCh38]
Chr2:189872666 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.852+20A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634238] Chr2:188991077 [GRCh38]
Chr2:189855803 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.153A>G (p.Gln51=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634299] Chr2:188984833 [GRCh38]
Chr2:189849559 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2299A>T (p.Ile767Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003632992] Chr2:189001412 [GRCh38]
Chr2:189866138 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3823+8T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523687] Chr2:189009229 [GRCh38]
Chr2:189873955 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3009G>A (p.Leu1003=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634258] Chr2:189005427 [GRCh38]
Chr2:189870153 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3150C>T (p.Gly1050=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003810696] Chr2:189006401 [GRCh38]
Chr2:189871127 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.583-11C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634334] Chr2:188988579 [GRCh38]
Chr2:189853305 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2284-17A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522499] Chr2:189001380 [GRCh38]
Chr2:189866106 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.951+7A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634338] Chr2:188991729 [GRCh38]
Chr2:189856455 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1967C>G (p.Pro656Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634340] Chr2:188998309 [GRCh38]
Chr2:189863035 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3093+18G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634279] Chr2:189006277 [GRCh38]
Chr2:189871003 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2224G>T (p.Asp742Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003836223] Chr2:188999572 [GRCh38]
Chr2:189864298 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.447+14G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634327] Chr2:188985792 [GRCh38]
Chr2:189850518 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.677C>T (p.Pro226Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634358] Chr2:188989436 [GRCh38]
Chr2:189854162 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2959G>T (p.Gly987Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522572] Chr2:189005377 [GRCh38]
Chr2:189870103 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1294-13del deletion Ehlers-Danlos syndrome, type 4 [RCV003633157] Chr2:188994526 [GRCh38]
Chr2:189859252 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.951+10G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634271] Chr2:188991732 [GRCh38]
Chr2:189856458 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1240G>A (p.Gly414Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634472] Chr2:188994279 [GRCh38]
Chr2:189859005 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.853-19A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634483] Chr2:188991468 [GRCh38]
Chr2:189856194 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.952G>T (p.Gly318Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633258] Chr2:188992184 [GRCh38]
Chr2:189856910 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3363+12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523892] Chr2:189007619 [GRCh38]
Chr2:189872345 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1531G>C (p.Ala511Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633253] Chr2:188995713 [GRCh38]
Chr2:189860439 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3411C>A (p.Gly1137=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522801] Chr2:189007932 [GRCh38]
Chr2:189872658 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2483G>A (p.Gly828Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633314] Chr2:189002992 [GRCh38]
Chr2:189867718 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.36T>G (p.Leu12=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633315] Chr2:188974525 [GRCh38]
Chr2:189839251 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-3T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633324] Chr2:188997162 [GRCh38]
Chr2:189861888 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4001G>T (p.Gly1334Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634629] Chr2:189010355 [GRCh38]
Chr2:189875081 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2662-16A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522733] Chr2:189003966 [GRCh38]
Chr2:189868692 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633344] Chr2:189006251 [GRCh38]
Chr2:189870977 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1412G>A (p.Gly471Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634622] Chr2:188994788 [GRCh38]
Chr2:189859514 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1663G>A (p.Gly555Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634658] Chr2:188996398 [GRCh38]
Chr2:189861124 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2554-10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633405] Chr2:189003401 [GRCh38]
Chr2:189868127 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1154C>T (p.Pro385Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633349] Chr2:188994042 [GRCh38]
Chr2:189858768 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.815A>G (p.Asn272Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633397] Chr2:188991020 [GRCh38]
Chr2:189855746 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.897+15T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524102] Chr2:188991546 [GRCh38]
Chr2:189856272 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3417+17G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522485] Chr2:189007955 [GRCh38]
Chr2:189872681 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2403T>C (p.Gly801=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524256] Chr2:189002309 [GRCh38]
Chr2:189867035 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634901] Chr2:188990366 [GRCh38]
Chr2:189855092 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633080] Chr2:188988626 [GRCh38]
Chr2:189853352 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1195-20T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524297] Chr2:188994214 [GRCh38]
Chr2:189858940 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1179T>C (p.Gly393=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634930] Chr2:188994067 [GRCh38]
Chr2:189858793 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3028C>T (p.Pro1010Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522564] Chr2:189005446 [GRCh38]
Chr2:189870172 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3831C>T (p.Tyr1277=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522619] Chr2:189010185 [GRCh38]
Chr2:189874911 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+14C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523294] Chr2:188990374 [GRCh38]
Chr2:189855100 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1816-15T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633146] Chr2:188997321 [GRCh38]
Chr2:189862047 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3093+20A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633743] Chr2:189006279 [GRCh38]
Chr2:189871005 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-6T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633749] Chr2:189007879 [GRCh38]
Chr2:189872605 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.301G>T (p.Gly101Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635064] Chr2:188985215 [GRCh38]
Chr2:189849941 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2932-15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635072] Chr2:189005335 [GRCh38]
Chr2:189870061 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2022+19del deletion Ehlers-Danlos syndrome, type 4 [RCV003854484] Chr2:188998737 [GRCh38]
Chr2:189863463 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-12T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523358] Chr2:188995680 [GRCh38]
Chr2:189860406 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1197T>A (p.Gly399=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633813] Chr2:188994236 [GRCh38]
Chr2:189858962 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1761+9C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003810845] Chr2:188996505 [GRCh38]
Chr2:189861231 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.981C>G (p.Gly327=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635105] Chr2:188992213 [GRCh38]
Chr2:189856939 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.350C>T (p.Pro117Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635110] Chr2:188985681 [GRCh38]
Chr2:189850407 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.636+12T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523924] Chr2:188988655 [GRCh38]
Chr2:189853381 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.744+20T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633858] Chr2:188990169 [GRCh38]
Chr2:189854895 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1762-16A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633884] Chr2:188997149 [GRCh38]
Chr2:189861875 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4334C>A (p.Ala1445Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523946] Chr2:189011707 [GRCh38]
Chr2:189876433 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.852+19C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633785] Chr2:188991076 [GRCh38]
Chr2:189855802 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1455+12A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003834543] Chr2:188994843 [GRCh38]
Chr2:189859569 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1470C>T (p.Phe490=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635203]|Familial thoracic aortic aneurysm and aortic dissection [RCV004371803] Chr2:188995060 [GRCh38]
Chr2:189859786 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.149G>C (p.Cys50Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523230] Chr2:188984829 [GRCh38]
Chr2:189849555 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.582+14T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633263] Chr2:188988148 [GRCh38]
Chr2:189852874 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.825G>C (p.Lys275Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633265] Chr2:188991030 [GRCh38]
Chr2:189855756 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2255A>G (p.Asp752Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635231] Chr2:188999867 [GRCh38]
Chr2:189864593 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1978G>C (p.Gly660Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635256] Chr2:188998674 [GRCh38]
Chr2:189863400 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1541C>A (p.Pro514His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634001] Chr2:188995723 [GRCh38]
Chr2:189860449 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2438G>T (p.Gly813Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522213] Chr2:189002344 [GRCh38]
Chr2:189867070 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2359C>A (p.Leu787Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524012] Chr2:189001557 [GRCh38]
Chr2:189866283 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1816-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633313] Chr2:188997334 [GRCh38]
Chr2:189862060 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.43C>G (p.Leu15Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633316] Chr2:188974532 [GRCh38]
Chr2:189839258 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4392C>T (p.Cys1464=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524030] Chr2:189011765 [GRCh38]
Chr2:189876491 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.798+8G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634046] Chr2:188990368 [GRCh38]
Chr2:189855094 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+19G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634631] Chr2:188988153 [GRCh38]
Chr2:189852879 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4148G>A (p.Ser1383Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634672] Chr2:189010784 [GRCh38]
Chr2:189875510 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1636G>A (p.Gly546Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635309] Chr2:188996152 [GRCh38]
Chr2:189860878 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1051-14G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634700] Chr2:188993347 [GRCh38]
Chr2:189858073 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635366] Chr2:188999340 [GRCh38]
Chr2:189864066 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.2607+19A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524078] Chr2:189003483 [GRCh38]
Chr2:189868209 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2662-4G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633398] Chr2:189003978 [GRCh38]
Chr2:189868704 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2662-11A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634013] Chr2:189003971 [GRCh38]
Chr2:189868697 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.144A>T (p.Glu48Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633450] Chr2:188984824 [GRCh38]
Chr2:189849550 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2262C>T (p.Val754=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633461] Chr2:188999874 [GRCh38]
Chr2:189864600 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.691-15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633470] Chr2:188990081 [GRCh38]
Chr2:189854807 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2419G>A (p.Gly807Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634807] Chr2:189002325 [GRCh38]
Chr2:189867051 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.4255-13T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633003] Chr2:189011615 [GRCh38]
Chr2:189876341 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.910G>T (p.Ala304Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524212] Chr2:188991681 [GRCh38]
Chr2:189856407 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.897+20del deletion Ehlers-Danlos syndrome, type 4 [RCV003634872] Chr2:188991551 [GRCh38]
Chr2:189856277 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3255+20G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003854654] Chr2:189007010 [GRCh38]
Chr2:189871736 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635354] Chr2:189007873 [GRCh38]
Chr2:189872599 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3353C>T (p.Pro1118Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633972] Chr2:189007597 [GRCh38]
Chr2:189872323 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2446-15T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635276] Chr2:189002940 [GRCh38]
Chr2:189867666 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2593A>G (p.Ser865Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635313] Chr2:189003450 [GRCh38]
Chr2:189868176 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1761+13A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633976] Chr2:188996509 [GRCh38]
Chr2:189861235 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3381G>T (p.Gln1127His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003851633] Chr2:189007902 [GRCh38]
Chr2:189872628 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2607+16C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003854664] Chr2:189003480 [GRCh38]
Chr2:189868206 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4151G>A (p.Gly1384Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003813881] Chr2:189010787 [GRCh38]
Chr2:189875513 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3526-17T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522375] Chr2:189008907 [GRCh38]
Chr2:189873633 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1663-19T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522486] Chr2:188996379 [GRCh38]
Chr2:189861105 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2525C>T (p.Ala842Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522508] Chr2:189003034 [GRCh38]
Chr2:189867760 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2186G>C (p.Gly729Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523862] Chr2:188999534 [GRCh38]
Chr2:189864260 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1762-12CTT[2] microsatellite Ehlers-Danlos syndrome, type 4 [RCV003634298] Chr2:188997153..188997155 [GRCh38]
Chr2:189861879..189861881 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.409C>T (p.Pro137Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523944] Chr2:188985740 [GRCh38]
Chr2:189850466 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3592G>A (p.Gly1198Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634578] Chr2:189008990 [GRCh38]
Chr2:189873716 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.583-16A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634583] Chr2:188988574 [GRCh38]
Chr2:189853300 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3185G>A (p.Gly1062Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522736] Chr2:189006436 [GRCh38]
Chr2:189871162 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1293+13G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633279] Chr2:188994345 [GRCh38]
Chr2:189859071 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1194+16T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633327] Chr2:188994098 [GRCh38]
Chr2:189858824 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.321C>T (p.Pro107=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633386] Chr2:188985235 [GRCh38]
Chr2:189849961 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2391+18T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634909] Chr2:189001607 [GRCh38]
Chr2:189866333 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2661+11G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003815802] Chr2:189003798 [GRCh38]
Chr2:189868524 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4254+16C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634987] Chr2:189010906 [GRCh38]
Chr2:189875632 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.80-9G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523296] Chr2:188984751 [GRCh38]
Chr2:189849477 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3890A>C (p.Glu1297Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635075] Chr2:189010244 [GRCh38]
Chr2:189874970 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1662+20C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635134] Chr2:188996198 [GRCh38]
Chr2:189860924 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2337+15T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635136] Chr2:189001465 [GRCh38]
Chr2:189866191 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2022+10C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003838337] Chr2:188998728 [GRCh38]
Chr2:189863454 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.529-8del deletion Ehlers-Danlos syndrome, type 4 [RCV003634775] Chr2:188988073 [GRCh38]
Chr2:189852799 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer) deletion Ehlers-Danlos syndrome, type 4 [RCV003634844] Chr2:188974493 [GRCh38]
Chr2:189839219 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.636+17T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522368] Chr2:188988660 [GRCh38]
Chr2:189853386 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2350G>A (p.Ala784Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524224] Chr2:189001548 [GRCh38]
Chr2:189866274 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3823+13G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003833824] Chr2:189009234 [GRCh38]
Chr2:189873960 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2554-14T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634893] Chr2:189003397 [GRCh38]
Chr2:189868123 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1195-5C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524306] Chr2:188994229 [GRCh38]
Chr2:189858955 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2302G>C (p.Gly768Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523790] Chr2:189001415 [GRCh38]
Chr2:189866141 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2499A>G (p.Lys833=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634401] Chr2:189003008 [GRCh38]
Chr2:189867734 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.676C>T (p.Pro226Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635342] Chr2:188989435 [GRCh38]
Chr2:189854161 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3338G>A (p.Gly1113Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635361] Chr2:189007582 [GRCh38]
Chr2:189872308 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1762-12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633754] Chr2:188997153 [GRCh38]
Chr2:189861879 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3006T>C (p.Gly1002=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524378] Chr2:189005424 [GRCh38]
Chr2:189870150 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1728T>G (p.Gly576=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635046] Chr2:188996463 [GRCh38]
Chr2:189861189 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3135T>G (p.Ala1045=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522625] Chr2:189006386 [GRCh38]
Chr2:189871112 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3256-17A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633207] Chr2:189007483 [GRCh38]
Chr2:189872209 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.630T>A (p.Gly210=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635365] Chr2:188988637 [GRCh38]
Chr2:189853363 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1421G>A (p.Gly474Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524443] Chr2:188994797 [GRCh38]
Chr2:189859523 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.898-19T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633867] Chr2:188991650 [GRCh38]
Chr2:189856376 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635217] Chr2:188999536 [GRCh38]
Chr2:189864262 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.1870-20G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633040] Chr2:188997680 [GRCh38]
Chr2:189862406 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2384G>A (p.Gly795Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634556] Chr2:189001582 [GRCh38]
Chr2:189866308 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1667G>T (p.Ser556Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523463] Chr2:188996402 [GRCh38]
Chr2:189861128 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2553+17_2553+22del deletion Ehlers-Danlos syndrome, type 4 [RCV003523994] Chr2:189003075..189003080 [GRCh38]
Chr2:189867801..189867806 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3184G>A (p.Gly1062Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524010] Chr2:189006435 [GRCh38]
Chr2:189871161 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2396A>T (p.Glu799Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524013] Chr2:189002302 [GRCh38]
Chr2:189867028 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.477T>C (p.Asp159=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522212] Chr2:188987088 [GRCh38]
Chr2:189851814 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2647_2655dup (p.Gly885_Ser886insProProGly) duplication Ehlers-Danlos syndrome, type 4 [RCV003634059] Chr2:189003765..189003766 [GRCh38]
Chr2:189868491..189868492 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2060G>C (p.Gly687Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524031] Chr2:188999322 [GRCh38]
Chr2:189864048 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1294-8T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003811076] Chr2:188994533 [GRCh38]
Chr2:189859259 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3538C>T (p.His1180Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003834191] Chr2:189008936 [GRCh38]
Chr2:189873662 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2416C>T (p.Pro806Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634106] Chr2:189002322 [GRCh38]
Chr2:189867048 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1115_1117del (p.Gly372_Pro373delinsAla) deletion Ehlers-Danlos syndrome, type 4 [RCV003524106] Chr2:188993425..188993427 [GRCh38]
Chr2:189858151..189858153 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1938A>G (p.Thr646=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524128] Chr2:188998280 [GRCh38]
Chr2:189863006 [GRCh37]
Chr2:2q32.2		 likely benign|conflicting interpretations of pathogenicity
NM_000090.4(COL3A1):c.2283+8T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634784] Chr2:188999903 [GRCh38]
Chr2:189864629 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.582+6dup duplication Ehlers-Danlos syndrome, type 4 [RCV003634167] Chr2:188988139..188988140 [GRCh38]
Chr2:189852865..189852866 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1149+11T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634192] Chr2:188993470 [GRCh38]
Chr2:189858196 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2391+12del deletion Ehlers-Danlos syndrome, type 4 [RCV003522872] Chr2:189001599 [GRCh38]
Chr2:189866325 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3129T>C (p.Pro1043=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003632995] Chr2:189006380 [GRCh38]
Chr2:189871106 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.852+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523704] Chr2:188991060 [GRCh38]
Chr2:189855786 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4254+20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634261] Chr2:189010910 [GRCh38]
Chr2:189875636 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1978-4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634300] Chr2:188998670 [GRCh38]
Chr2:189863396 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4255-11C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633184] Chr2:189011617 [GRCh38]
Chr2:189876343 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4254+15T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633816] Chr2:189010905 [GRCh38]
Chr2:189875631 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2229+10T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633877] Chr2:188999587 [GRCh38]
Chr2:189864313 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1103G>C (p.Arg368Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635151] Chr2:188993413 [GRCh38]
Chr2:189858139 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1195-13G>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635166] Chr2:188994221 [GRCh38]
Chr2:189858947 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.691-13T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633229] Chr2:188990083 [GRCh38]
Chr2:189854809 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2554-2A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635252] Chr2:189003409 [GRCh38]
Chr2:189868135 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2711C>T (p.Pro904Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633967] Chr2:189004031 [GRCh38]
Chr2:189868757 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1725T>G (p.Pro575=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634007] Chr2:188996460 [GRCh38]
Chr2:189861186 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2662-16A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635315] Chr2:189003966 [GRCh38]
Chr2:189868692 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1608+12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003635323] Chr2:188995802 [GRCh38]
Chr2:189860528 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4047C>T (p.Val1349=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633335]|not provided [RCV003886636] Chr2:189010683 [GRCh38]
Chr2:189875409 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.897+17T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633357] Chr2:188991548 [GRCh38]
Chr2:189856274 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.447+12dup duplication Ehlers-Danlos syndrome, type 4 [RCV003524066] Chr2:188985789..188985790 [GRCh38]
Chr2:189850515..189850516 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2932-16A>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522232] Chr2:189005334 [GRCh38]
Chr2:189870060 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4254+18C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003523609] Chr2:189010908 [GRCh38]
Chr2:189875634 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3756T>G (p.Asp1252Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634076] Chr2:189009154 [GRCh38]
Chr2:189873880 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3753T>C (p.Pro1251=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003634088] Chr2:189009151 [GRCh38]
Chr2:189873877 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1347C>G (p.Arg449=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003522832] Chr2:188994594 [GRCh38]
Chr2:189859320 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3795G>T (p.Leu1265=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633371] Chr2:189009193 [GRCh38]
Chr2:189873919 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3526-1G>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003524083] Chr2:189008923 [GRCh38]
Chr2:189873649 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2205A>C (p.Gly735=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633385] Chr2:188999553 [GRCh38]
Chr2:189864279 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.873C>G (p.Gly291=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633407] Chr2:188991507 [GRCh38]
Chr2:189856233 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-20T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003633410] Chr2:189007865 [GRCh38]
Chr2:189872591 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1592G>C (p.Gly531Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003864826] Chr2:188995774 [GRCh38]
Chr2:189860500 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.1608+13A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003843151] Chr2:188995803 [GRCh38]
Chr2:189860529 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2283+12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003846742] Chr2:188999907 [GRCh38]
Chr2:189864633 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2121+13C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003864173] Chr2:188999396 [GRCh38]
Chr2:189864122 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1761+8C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003818656] Chr2:188996504 [GRCh38]
Chr2:189861230 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2023-4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003857742] Chr2:188999281 [GRCh38]
Chr2:189864007 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.799-14T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003822066] Chr2:188990990 [GRCh38]
Chr2:189855716 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3885T>A (p.Asn1295Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870687] Chr2:189010239 [GRCh38]
Chr2:189874965 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.532C>T (p.Pro178Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003871439] Chr2:188988084 [GRCh38]
Chr2:189852810 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.751A>G (p.Lys251Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003866225] Chr2:188990313 [GRCh38]
Chr2:189855039 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3575C>T (p.Ala1192Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003871552] Chr2:189008973 [GRCh38]
Chr2:189873699 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2622C>T (p.Phe874=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003872136] Chr2:189003748 [GRCh38]
Chr2:189868474 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3417+18A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870819] Chr2:189007956 [GRCh38]
Chr2:189872682 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.897+20A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003869915] Chr2:188991551 [GRCh38]
Chr2:189856277 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2932-10T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870523] Chr2:189005340 [GRCh38]
Chr2:189870066 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2122-19A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870736] Chr2:188999451 [GRCh38]
Chr2:189864177 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2661+13T>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870097] Chr2:189003800 [GRCh38]
Chr2:189868526 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3094-4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003870786] Chr2:189006341 [GRCh38]
Chr2:189871067 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1389A>C (p.Glu463Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003862210] Chr2:188994765 [GRCh38]
Chr2:189859491 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.156A>G (p.Ile52Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003818162] Chr2:188984836 [GRCh38]
Chr2:189849562 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.744+10C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003845986] Chr2:188990159 [GRCh38]
Chr2:189854885 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2022+14T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV003861148] Chr2:188998732 [GRCh38]
Chr2:189863458 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.590C>A (p.Pro197Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008175] Chr2:188988597 [GRCh38]
Chr2:189853323 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1795C>A (p.Pro599Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008207] Chr2:188997198 [GRCh38]
Chr2:189861924 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-6C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007867] Chr2:189007494 [GRCh38]
Chr2:189872220 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3893C>A (p.Thr1298Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007911] Chr2:189010247 [GRCh38]
Chr2:189874973 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1719T>A (p.Gly573=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520442] Chr2:188996454 [GRCh38]
Chr2:189861180 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2832A>G (p.Pro944=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520444] Chr2:189004265 [GRCh38]
Chr2:189868991 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3070C>G (p.Arg1024Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520445] Chr2:189006236 [GRCh38]
Chr2:189870962 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3240T>C (p.Gly1080=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520447] Chr2:189006975 [GRCh38]
Chr2:189871701 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3915C>T (p.Ala1305=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520449] Chr2:189010269 [GRCh38]
Chr2:189874995 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.834A>T (p.Thr278=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520452] Chr2:188991039 [GRCh38]
Chr2:189855765 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.399T>G (p.Gly133=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010124] Chr2:188985730 [GRCh38]
Chr2:189850456 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2971G>A (p.Glu991Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007951] Chr2:189005389 [GRCh38]
Chr2:189870115 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.30G>C (p.Trp10Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007992] Chr2:188974519 [GRCh38]
Chr2:189839245 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.644C>G (p.Pro215Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008004] Chr2:188989403 [GRCh38]
Chr2:189854129 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2608-16_2608-12del deletion Ehlers-Danlos syndrome, type 4 [RCV004009807] Chr2:189003716..189003720 [GRCh38]
Chr2:189868442..189868446 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.331C>T (p.Pro111Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009827] Chr2:188985245 [GRCh38]
Chr2:189849971 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2241C>A (p.Gly747=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009838] Chr2:188999853 [GRCh38]
Chr2:189864579 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2776G>A (p.Ala926Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009899] Chr2:189004096 [GRCh38]
Chr2:189868822 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.205G>C (p.Asp69His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009898] Chr2:188984885 [GRCh38]
Chr2:189849611 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.569A>C (p.His190Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007964] Chr2:188988121 [GRCh38]
Chr2:189852847 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.218A>G (p.Asp73Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008144] Chr2:188984898 [GRCh38]
Chr2:189849624 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1694_1697del (p.Pro565fs) deletion Ehlers-Danlos syndrome, type 4 [RCV004556985] Chr2:188996428..188996431 [GRCh38]
Chr2:189861154..189861157 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2556T>C (p.Gly852=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520443] Chr2:189003413 [GRCh38]
Chr2:189868139 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3558T>C (p.Pro1186=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520448] Chr2:189008956 [GRCh38]
Chr2:189873682 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3683A>T (p.Lys1228Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008083] Chr2:189009081 [GRCh38]
Chr2:189873807 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3115T>G (p.Ser1039Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007979] Chr2:189006366 [GRCh38]
Chr2:189871092 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1111C>A (p.Pro371Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008112] Chr2:188993421 [GRCh38]
Chr2:189858147 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2984C>G (p.Pro995Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008202] Chr2:189005402 [GRCh38]
Chr2:189870128 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.958C>G (p.Arg320Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008230] Chr2:188992190 [GRCh38]
Chr2:189856916 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.368C>A (p.Pro123His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009996] Chr2:188985699 [GRCh38]
Chr2:189850425 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3990G>A (p.Glu1330=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520450] Chr2:189010344 [GRCh38]
Chr2:189875070 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2802G>T (p.Ser934=) single nucleotide variant not provided [RCV004546944] Chr2:189004122 [GRCh38]
Chr2:189868848 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2441C>T (p.Ala814Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007848] Chr2:189002347 [GRCh38]
Chr2:189867073 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-10G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010211] Chr2:188994028 [GRCh38]
Chr2:189858754 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1416A>G (p.Glu472=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010237] Chr2:188994792 [GRCh38]
Chr2:189859518 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1443T>C (p.Ala481=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009913] Chr2:188994819 [GRCh38]
Chr2:189859545 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2282_2446-52del deletion Familial aortopathy [RCV003988193] Chr2:188999890..189002899 [GRCh38]
Chr2:189864616..189867625 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.853-18T>C single nucleotide variant not specified [RCV004527146] Chr2:188991469 [GRCh38]
Chr2:189856195 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4352G>A (p.Gly1451Asp) single nucleotide variant COL3A1-related disorder [RCV004544197] Chr2:189011725 [GRCh38]
Chr2:189876451 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2503G>C (p.Glu835Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004527552] Chr2:189003012 [GRCh38]
Chr2:189867738 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1983A>G (p.Pro661=) single nucleotide variant not specified [RCV004527167] Chr2:188998679 [GRCh38]
Chr2:189863405 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1347C>A (p.Arg449=) single nucleotide variant not provided [RCV003887004] Chr2:188994594 [GRCh38]
Chr2:189859320 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1392T>C (p.Asp464=) single nucleotide variant COL3A1-related disorder [RCV004542489] Chr2:188994768 [GRCh38]
Chr2:189859494 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2282_2446-56del deletion Familial aortopathy [RCV003988568] Chr2:188999894..189002899 [GRCh38]
Chr2:189864620..189867625 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.178G>C (p.Val60Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012321] Chr2:188984858 [GRCh38]
Chr2:189849584 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3361C>G (p.Pro1121Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012402] Chr2:189007605 [GRCh38]
Chr2:189872331 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1405T>A (p.Ser469Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011792] Chr2:188994781 [GRCh38]
Chr2:189859507 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.758C>G (p.Pro253Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012762] Chr2:188990320 [GRCh38]
Chr2:189855046 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2998C>T (p.Leu1000Phe) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012827] Chr2:189005416 [GRCh38]
Chr2:189870142 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2662-12A>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004008136] Chr2:189003970 [GRCh38]
Chr2:189868696 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3611C>T (p.Ala1204Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011935] Chr2:189009009 [GRCh38]
Chr2:189873735 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3200G>T (p.Ser1067Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012841] Chr2:189006451 [GRCh38]
Chr2:189871177 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1089T>C (p.Gly363=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011972] Chr2:188993399 [GRCh38]
Chr2:189858125 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3683A>C (p.Lys1228Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012051] Chr2:189009081 [GRCh38]
Chr2:189873807 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3219T>C (p.Ala1073=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004520446] Chr2:189006954 [GRCh38]
Chr2:189871680 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2867G>C (p.Arg956Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012125] Chr2:189004300 [GRCh38]
Chr2:189869026 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1761T>A (p.Asp587Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012242] Chr2:188996496 [GRCh38]
Chr2:189861222 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-8A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012246] Chr2:188994030 [GRCh38]
Chr2:189858756 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2657G>C (p.Ser886Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011741] Chr2:189003783 [GRCh38]
Chr2:189868509 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3125C>T (p.Ala1042Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011751] Chr2:189006376 [GRCh38]
Chr2:189871102 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2939G>C (p.Ser980Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012132] Chr2:189005357 [GRCh38]
Chr2:189870083 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3046C>A (p.Pro1016Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012294] Chr2:189006212 [GRCh38]
Chr2:189870938 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3542C>G (p.Pro1181Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012492] Chr2:189008940 [GRCh38]
Chr2:189873666 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2296C>G (p.Pro766Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012564] Chr2:189001409 [GRCh38]
Chr2:189866135 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.939T>C (p.Leu313=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004009800] Chr2:188991710 [GRCh38]
Chr2:189856436 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4255-5T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011779] Chr2:189011623 [GRCh38]
Chr2:189876349 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1510-14C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011816] Chr2:188995678 [GRCh38]
Chr2:189860404 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.670T>C (p.Ser224Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012238] Chr2:188989429 [GRCh38]
Chr2:189854155 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4076T>A (p.Leu1359His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012510] Chr2:189010712 [GRCh38]
Chr2:189875438 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.997-4T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012579] Chr2:188992883 [GRCh38]
Chr2:189857609 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2587C>A (p.Arg863Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011761] Chr2:189003444 [GRCh38]
Chr2:189868170 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2188G>C (p.Glu730Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010031] Chr2:188999536 [GRCh38]
Chr2:189864262 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.338C>T (p.Pro113Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012207] Chr2:188985669 [GRCh38]
Chr2:189850395 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1624C>A (p.Pro542Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012201] Chr2:188996140 [GRCh38]
Chr2:189860866 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.723G>T (p.Glu241Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012627] Chr2:188990128 [GRCh38]
Chr2:189854854 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.310C>G (p.Pro104Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012658] Chr2:188985224 [GRCh38]
Chr2:189849950 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1663-4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012795] Chr2:188996394 [GRCh38]
Chr2:189861120 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.286A>G (p.Thr96Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004010047] Chr2:188985200 [GRCh38]
Chr2:189849926 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1863G>A (p.Gly621=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004011933] Chr2:188997383 [GRCh38]
Chr2:189862109 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2462C>T (p.Pro821Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012642] Chr2:189002971 [GRCh38]
Chr2:189867697 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1878T>A (p.Gly626=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012285] Chr2:188997708 [GRCh38]
Chr2:189862434 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2669C>T (p.Pro890Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012618] Chr2:189003989 [GRCh38]
Chr2:189868715 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.40G>C (p.Ala14Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012678] Chr2:188974529 [GRCh38]
Chr2:189839255 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3922T>C (p.Leu1308=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012695] Chr2:189010276 [GRCh38]
Chr2:189875002 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3994A>G (p.Met1332Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012058] Chr2:189010348 [GRCh38]
Chr2:189875074 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.963T>G (p.Gly321=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012713] Chr2:188992195 [GRCh38]
Chr2:189856921 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2804C>G (p.Pro935Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012719] Chr2:189004124 [GRCh38]
Chr2:189868850 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2515C>T (p.Pro839Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007819] Chr2:189003024 [GRCh38]
Chr2:189867750 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1108G>C (p.Glu370Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012732] Chr2:188993418 [GRCh38]
Chr2:189858144 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3823+3A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012596] Chr2:189009224 [GRCh38]
Chr2:189873950 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2062T>A (p.Leu688Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012617] Chr2:188999324 [GRCh38]
Chr2:189864050 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1765G>T (p.Ala589Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004007932] Chr2:188997168 [GRCh38]
Chr2:189861894 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3364G>A (p.Gly1122Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016139] Chr2:189007885 [GRCh38]
Chr2:189872611 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3073G>A (p.Asp1025Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014621] Chr2:189006239 [GRCh38]
Chr2:189870965 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2071G>A (p.Ala691Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016029] Chr2:188999333 [GRCh38]
Chr2:189864059 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2498A>T (p.Lys833Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014867] Chr2:189003007 [GRCh38]
Chr2:189867733 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2967T>G (p.Ser989Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014819] Chr2:189005385 [GRCh38]
Chr2:189870111 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.508G>T (p.Ala170Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015547] Chr2:188987119 [GRCh38]
Chr2:189851845 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.888T>G (p.Pro296=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016403] Chr2:188991522 [GRCh38]
Chr2:189856248 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3457A>C (p.Thr1153Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013159] Chr2:189008074 [GRCh38]
Chr2:189872800 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3256-44A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016161] Chr2:189007456 [GRCh38]
Chr2:189872182 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2381G>T (p.Arg794Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013407] Chr2:189001579 [GRCh38]
Chr2:189866305 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.412C>T (p.Pro138Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016454] Chr2:188985743 [GRCh38]
Chr2:189850469 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1577G>A (p.Arg526Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016508] Chr2:188995759 [GRCh38]
Chr2:189860485 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3796A>G (p.Lys1266Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013513] Chr2:189009194 [GRCh38]
Chr2:189873920 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.322A>G (p.Lys108Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013534] Chr2:188985236 [GRCh38]
Chr2:189849962 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1900C>A (p.Pro634Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013383] Chr2:188997730 [GRCh38]
Chr2:189862456 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1017A>T (p.Gly339=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016392] Chr2:188992907 [GRCh38]
Chr2:189857633 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2415T>G (p.Pro805=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013441] Chr2:189002321 [GRCh38]
Chr2:189867047 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.636A>G (p.Ser212=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016563] Chr2:188988643 [GRCh38]
Chr2:189853369 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4247G>T (p.Gly1416Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015061] Chr2:189010883 [GRCh38]
Chr2:189875609 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.485C>G (p.Ser162Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016618] Chr2:188987096 [GRCh38]
Chr2:189851822 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.80-3C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016672] Chr2:188984757 [GRCh38]
Chr2:189849483 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1957A>C (p.Asn653His) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013773] Chr2:188998299 [GRCh38]
Chr2:189863025 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.731T>C (p.Leu244Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013388] Chr2:188990136 [GRCh38]
Chr2:189854862 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2769A>G (p.Lys923=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014235] Chr2:189004089 [GRCh38]
Chr2:189868815 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.940C>G (p.Pro314Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016697] Chr2:188991711 [GRCh38]
Chr2:189856437 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.307G>A (p.Gly103Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016808] Chr2:188985221 [GRCh38]
Chr2:189849947 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3094-8G>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013892] Chr2:189006337 [GRCh38]
Chr2:189871063 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1505A>G (p.Glu502Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013916] Chr2:188995095 [GRCh38]
Chr2:189859821 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3818A>T (p.Lys1273Met) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016901] Chr2:189009216 [GRCh38]
Chr2:189873942 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2146C>T (p.Pro716Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013484] Chr2:188999494 [GRCh38]
Chr2:189864220 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3469C>A (p.Pro1157Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015270] Chr2:189008086 [GRCh38]
Chr2:189872812 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.526G>T (p.Ala176Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016762] Chr2:188987137 [GRCh38]
Chr2:189851863 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2703G>C (p.Lys901Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013951] Chr2:189004023 [GRCh38]
Chr2:189868749 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2982C>A (p.Pro994=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015436] Chr2:189005400 [GRCh38]
Chr2:189870126 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2282G>A (p.Arg761Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014322] Chr2:188999894 [GRCh38]
Chr2:189864620 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1910C>T (p.Pro637Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016809] Chr2:188997740 [GRCh38]
Chr2:189862466 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1324G>C (p.Glu442Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016767] Chr2:188994571 [GRCh38]
Chr2:189859297 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3451G>T (p.Asp1151Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015403] Chr2:189008068 [GRCh38]
Chr2:189872794 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2392-5T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014052] Chr2:189002293 [GRCh38]
Chr2:189867019 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4280C>T (p.Thr1427Ile) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013555] Chr2:189011653 [GRCh38]
Chr2:189876379 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1150-5C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014364] Chr2:188994033 [GRCh38]
Chr2:189858759 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2075C>T (p.Pro692Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015414] Chr2:188999337 [GRCh38]
Chr2:189864063 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2434C>T (p.Pro812Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013604] Chr2:189002340 [GRCh38]
Chr2:189867066 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.387A>T (p.Pro129=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015309] Chr2:188985718 [GRCh38]
Chr2:189850444 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2823+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014012] Chr2:189004147 [GRCh38]
Chr2:189868873 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3403C>A (p.Pro1135Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014078] Chr2:189007924 [GRCh38]
Chr2:189872650 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3417+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014537] Chr2:189007942 [GRCh38]
Chr2:189872668 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1697C>G (p.Pro566Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015635] Chr2:188996432 [GRCh38]
Chr2:189861158 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3615T>C (p.Ile1205=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013046] Chr2:189009013 [GRCh38]
Chr2:189873739 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3421C>T (p.Pro1141Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015393] Chr2:189008038 [GRCh38]
Chr2:189872764 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1794C>T (p.Gly598=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015705] Chr2:188997197 [GRCh38]
Chr2:189861923 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3779del (p.Arg1260fs) deletion Ehlers-Danlos syndrome, type 4 [RCV003991516] Chr2:189009177 [GRCh38]
Chr2:189873903 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_000090.4(COL3A1):c.3142C>T (p.His1048Tyr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014440] Chr2:189006393 [GRCh38]
Chr2:189871119 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2511C>T (p.Gly837=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015433] Chr2:189003020 [GRCh38]
Chr2:189867746 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2786C>A (p.Pro929Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016185] Chr2:189004106 [GRCh38]
Chr2:189868832 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3697G>C (p.Glu1233Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014336] Chr2:189009095 [GRCh38]
Chr2:189873821 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2824-3T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015815] Chr2:189004254 [GRCh38]
Chr2:189868980 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2742T>C (p.Pro914=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015913] Chr2:189004062 [GRCh38]
Chr2:189868788 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1092C>T (p.Ala364=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004012996] Chr2:188993402 [GRCh38]
Chr2:189858128 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3734T>C (p.Ile1245Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013017] Chr2:189009132 [GRCh38]
Chr2:189873858 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3477C>T (p.Pro1159=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016209] Chr2:189008094 [GRCh38]
Chr2:189872820 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2115A>T (p.Gly705=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014481] Chr2:188999377 [GRCh38]
Chr2:189864103 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3555C>A (p.Gly1185=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014611] Chr2:189008953 [GRCh38]
Chr2:189873679 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1608+4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016059] Chr2:188995794 [GRCh38]
Chr2:189860520 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3364-8C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016087] Chr2:189007877 [GRCh38]
Chr2:189872603 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.356G>A (p.Arg119Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013834] Chr2:188985687 [GRCh38]
Chr2:189850413 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2392-4T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013887] Chr2:189002294 [GRCh38]
Chr2:189867020 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3917A>G (p.Asn1306Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014762] Chr2:189010271 [GRCh38]
Chr2:189874997 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.952-11T>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014782] Chr2:188992173 [GRCh38]
Chr2:189856899 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.55A>C (p.Thr19Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013489] Chr2:188974544 [GRCh38]
Chr2:189839270 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3525G>A (p.Glu1175=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004018422] Chr2:189008142 [GRCh38]
Chr2:189872868 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.80C>G (p.Ala27Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013891] Chr2:188984760 [GRCh38]
Chr2:189849486 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3349G>T (p.Ala1117Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014155] Chr2:189007593 [GRCh38]
Chr2:189872319 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1976C>A (p.Pro659Gln) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014205] Chr2:188998318 [GRCh38]
Chr2:189863044 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3748A>G (p.Ser1250Gly) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015883] Chr2:189009146 [GRCh38]
Chr2:189873872 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2138C>T (p.Pro713Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015945] Chr2:188999486 [GRCh38]
Chr2:189864212 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3064C>T (p.Pro1022Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014410] Chr2:189006230 [GRCh38]
Chr2:189870956 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2632C>T (p.Arg878Cys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016048] Chr2:189003758 [GRCh38]
Chr2:189868484 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4041A>C (p.Glu1347Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013006] Chr2:189010677 [GRCh38]
Chr2:189875403 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3602G>T (p.Gly1201Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016210] Chr2:189009000 [GRCh38]
Chr2:189873726 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1268G>C (p.Gly423Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004437396] Chr2:188994307 [GRCh38]
Chr2:189859033 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2373T>G (p.Ala791=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013043] Chr2:189001571 [GRCh38]
Chr2:189866297 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.999C>A (p.Gly333=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013056] Chr2:188992889 [GRCh38]
Chr2:189857615 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4204G>C (p.Ala1402Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016290] Chr2:189010840 [GRCh38]
Chr2:189875566 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2383G>C (p.Gly795Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004437397] Chr2:189001581 [GRCh38]
Chr2:189866307 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.3079T>G (p.Ser1027Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016438] Chr2:189006245 [GRCh38]
Chr2:189870971 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2533C>A (p.Pro845Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016444] Chr2:189003042 [GRCh38]
Chr2:189867768 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3638C>T (p.Ala1213Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016800] Chr2:189009036 [GRCh38]
Chr2:189873762 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2142G>A (p.Gly714=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013542] Chr2:188999490 [GRCh38]
Chr2:189864216 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.570del (p.Pro191fs) deletion Ehlers-Danlos syndrome, type 4 [RCV004018368] Chr2:188988122 [GRCh38]
Chr2:189852848 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.2530C>A (p.Pro844Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013846] Chr2:189003039 [GRCh38]
Chr2:189867765 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.366C>A (p.Asp122Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015420] Chr2:188985697 [GRCh38]
Chr2:189850423 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3313A>G (p.Ile1105Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014132] Chr2:189007557 [GRCh38]
Chr2:189872283 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2507G>A (p.Gly836Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014209] Chr2:189003016 [GRCh38]
Chr2:189867742 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2835C>T (p.Gly945=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014527] Chr2:189004268 [GRCh38]
Chr2:189868994 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.283-12del deletion Ehlers-Danlos syndrome, type 4 [RCV004016074] Chr2:188985182 [GRCh38]
Chr2:189849908 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1489A>G (p.Asn497Asp) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013023] Chr2:188995079 [GRCh38]
Chr2:189859805 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3516A>G (p.Arg1172=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013051] Chr2:189008133 [GRCh38]
Chr2:189872859 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.496G>C (p.Val166Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014587] Chr2:188987107 [GRCh38]
Chr2:189851833 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2446-3T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013095] Chr2:189002952 [GRCh38]
Chr2:189867678 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.109C>G (p.Gln37Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014757] Chr2:188984789 [GRCh38]
Chr2:189849515 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1058T>C (p.Val353Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016274] Chr2:188993368 [GRCh38]
Chr2:189858094 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1108G>A (p.Glu370Lys) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013166] Chr2:188993418 [GRCh38]
Chr2:189858144 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2020A>G (p.Lys674Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016300] Chr2:188998716 [GRCh38]
Chr2:189863442 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.24G>C (p.Gly8=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014900] Chr2:188974513 [GRCh38]
Chr2:189839239 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2122-3C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016496] Chr2:188999467 [GRCh38]
Chr2:189864193 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.4374G>A (p.Val1458=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014995] Chr2:189011747 [GRCh38]
Chr2:189876473 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.197T>G (p.Ile66Arg) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016552] Chr2:188984877 [GRCh38]
Chr2:189849603 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2446-5T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015033] Chr2:189002950 [GRCh38]
Chr2:189867676 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3364-4C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013448] Chr2:189007881 [GRCh38]
Chr2:189872607 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3093+4T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014909] Chr2:189006263 [GRCh38]
Chr2:189870989 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.3089G>T (p.Gly1030Val) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014912] Chr2:189006255 [GRCh38]
Chr2:189870981 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.687A>T (p.Lys229Asn) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016700] Chr2:188989446 [GRCh38]
Chr2:189854172 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1869+4A>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013510] Chr2:188997393 [GRCh38]
Chr2:189862119 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2152G>T (p.Ala718Ser) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015158] Chr2:188999500 [GRCh38]
Chr2:189864226 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2588G>T (p.Arg863Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016740] Chr2:189003445 [GRCh38]
Chr2:189868171 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.4012-10C>G single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013466] Chr2:189010638 [GRCh38]
Chr2:189875364 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1234G>A (p.Ala412Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013605] Chr2:188994273 [GRCh38]
Chr2:189858999 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1435C>G (p.Pro479Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013923] Chr2:188994811 [GRCh38]
Chr2:189859537 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.637-12C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004013984] Chr2:188989384 [GRCh38]
Chr2:189854110 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.2639T>C (p.Leu880Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014000] Chr2:189003765 [GRCh38]
Chr2:189868491 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1712C>T (p.Pro571Leu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015416] Chr2:188996447 [GRCh38]
Chr2:189861173 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.910G>C (p.Ala304Pro) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015665] Chr2:188991681 [GRCh38]
Chr2:189856407 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.583-4C>T single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015683] Chr2:188988586 [GRCh38]
Chr2:189853312 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.1491T>C (p.Asn497=) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014225] Chr2:188995081 [GRCh38]
Chr2:189859807 [GRCh37]
Chr2:2q32.2		 likely benign
NM_000090.4(COL3A1):c.3077G>C (p.Gly1026Ala) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004015823] Chr2:189006243 [GRCh38]
Chr2:189870969 [GRCh37]
Chr2:2q32.2		 likely pathogenic
NM_000090.4(COL3A1):c.-9T>C single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004014391] Chr2:188974481 [GRCh38]
Chr2:189839207 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.583-6C>A single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016114] Chr2:188988584 [GRCh38]
Chr2:189853310 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.1445C>A (p.Ala482Glu) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016207] Chr2:188994821 [GRCh38]
Chr2:189859547 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_000090.4(COL3A1):c.2155G>A (p.Ala719Thr) single nucleotide variant Ehlers-Danlos syndrome, type 4 [RCV004016247] Chr2:188999503 [GRCh38]
Chr2:189864229 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189839216)_(189923639_?)del deletion Ehlers-Danlos syndrome, classic type, 1 [RCV004582436] Chr2:189839216..189923639 [GRCh37] pathogenic
NC_000002.11:g.(?_189839216)_(190445186_?)del deletion Ehlers-Danlos syndrome, type 4 [RCV004582437] Chr2:189839216..190445186 [GRCh37] pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Chsa-miR-29c-3pMirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI18390668
MIR29Chsa-miR-29c-3pMirecordsexternal_info{changed}NA18390668
MIR29Ahsa-miR-29a-3pMirecordsexternal_info{changed}NA20201077

Predicted Target Of
Summary Value
Count of predictions:1387
Count of miRNA genes:644
Interacting mature miRNAs:709
Transcripts:ENST00000304636, ENST00000317840, ENST00000450867, ENST00000467886, ENST00000470167, ENST00000487010
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH99230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,868,447 - 189,868,567UniSTSGRCh37
Build 362189,576,692 - 189,576,812RGDNCBI36
Celera2183,463,253 - 183,463,373RGD
Cytogenetic Map2q31UniSTS
HuRef2181,728,129 - 181,728,249UniSTS
GeneMap99-GB4 RH Map2598.57UniSTS
X57983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,876,571 - 189,876,747UniSTSGRCh37
Build 362189,584,816 - 189,584,992RGDNCBI36
Celera2183,471,372 - 183,471,548RGD
HuRef2181,736,220 - 181,736,396UniSTS
GDB:178183  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,863,882 - 189,864,175UniSTSGRCh37
Build 362189,572,127 - 189,572,420RGDNCBI36
Celera2183,458,688 - 183,458,981RGD
Cytogenetic Map2q31UniSTS
HuRef2181,723,564 - 181,723,857UniSTS
GDB:178412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,864,364 - 189,864,684UniSTSGRCh37
Build 362189,572,609 - 189,572,929RGDNCBI36
Celera2183,459,170 - 183,459,490RGD
Cytogenetic Map2q31UniSTS
HuRef2181,724,046 - 181,724,366UniSTS
GDB:180981  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,860,936 - 189,861,220UniSTSGRCh37
Build 362189,569,181 - 189,569,465RGDNCBI36
Celera2183,455,742 - 183,456,026RGD
Cytogenetic Map2q31UniSTS
HuRef2181,720,490 - 181,720,932UniSTS
GDB:181238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,875,399 - 189,876,459UniSTSGRCh37
Build 362189,583,644 - 189,584,704RGDNCBI36
Celera2183,470,200 - 183,471,260RGD
Cytogenetic Map2q31UniSTS
HuRef2181,735,048 - 181,736,108UniSTS
RH134399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,876,385 - 189,876,589UniSTSGRCh37
Build 362189,584,630 - 189,584,834RGDNCBI36
Celera2183,471,186 - 183,471,390RGD
HuRef2181,736,034 - 181,736,238UniSTS
COL3A1_428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,876,836 - 189,877,502UniSTSGRCh37
Build 362189,585,081 - 189,585,747RGDNCBI36
Celera2183,471,637 - 183,472,302RGD
HuRef2181,736,485 - 181,737,149UniSTS
COL3A1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,877,341 - 189,877,401UniSTSGRCh37
Build 362189,585,586 - 189,585,646RGDNCBI36
Celera2183,472,141 - 183,472,201RGD
HuRef2181,736,988 - 181,737,048UniSTS
WI-16343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,877,316 - 189,877,442UniSTSGRCh37
Build 362189,585,561 - 189,585,687RGDNCBI36
Celera2183,472,116 - 183,472,242RGD
Cytogenetic Map2q31UniSTS
HuRef2181,736,963 - 181,737,089UniSTS
GeneMap99-GB4 RH Map2598.78UniSTS
Whitehead-RH Map2927.4UniSTS
NCBI RH Map21492.4UniSTS
MARC_23660-23661:1029504961:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,874,927 - 189,875,558UniSTSGRCh37
Build 362189,583,172 - 189,583,803RGDNCBI36
Celera2183,469,728 - 183,470,359RGD
HuRef2181,734,576 - 181,735,207UniSTS
COL3A1-95  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,875,423 - 189,875,609UniSTSGRCh37
Celera2183,470,224 - 183,470,410UniSTS
HuRef2181,735,072 - 181,735,258UniSTS
RH69964  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q31UniSTS
GeneMap99-GB4 RH Map2598.67UniSTS
NCBI RH Map21494.0UniSTS
GDB:178182  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q31UniSTS
GDB:178411  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q31UniSTS
D2S2587  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q31UniSTS
Whitehead-YAC Contig Map2 UniSTS
COL3A1-379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372189,874,972 - 189,875,609UniSTSGRCh37
Celera2183,469,773 - 183,470,410UniSTS
HuRef2181,734,621 - 181,735,258UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 104 302 21 8 13 9 271 19 21 30 167 111 3 1 131 161 2
Medium 2223 1909 1549 554 539 391 3563 1801 952 310 1205 1322 163 1073 2311 2 2
Low 16 379 143 56 391 55 454 362 2209 45 25 39 7 316
Below cutoff 22 392 5 3 583 4 30 10 548 9 22 50 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC066694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI755052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP374999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU143397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC567894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LJII02000005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M55603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X01742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X07240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000304636   ⟹   ENSP00000304408
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)Ensembl
Ensembl Acc Id: ENST00000317840   ⟹   ENSP00000315243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,386 - 189,012,051 (+)Ensembl
Ensembl Acc Id: ENST00000450867   ⟹   ENSP00000415346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)Ensembl
Ensembl Acc Id: ENST00000467886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,003,423 - 189,003,917 (+)Ensembl
Ensembl Acc Id: ENST00000470167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,394 - 188,985,212 (+)Ensembl
Ensembl Acc Id: ENST00000487010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,008,302 - 189,012,048 (+)Ensembl
Ensembl Acc Id: ENST00000713744   ⟹   ENSP00000519048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)Ensembl
Ensembl Acc Id: ENST00000713745   ⟹   ENSP00000519049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2188,974,373 - 189,012,746 (+)Ensembl
RefSeq Acc Id: NM_000090   ⟹   NP_000081
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382188,974,373 - 189,012,746 (+)NCBI
GRCh372189,839,099 - 189,877,472 (+)ENTREZGENE
Build 362189,547,344 - 189,585,717 (+)NCBI Archive
HuRef2181,698,732 - 181,737,119 (+)ENTREZGENE
CHM1_12189,845,032 - 189,883,377 (+)NCBI
T2T-CHM13v2.02189,463,283 - 189,501,589 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000081 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51999 (Get FASTA)   NCBI Sequence Viewer  
  AAA52000 (Get FASTA)   NCBI Sequence Viewer  
  AAA52001 (Get FASTA)   NCBI Sequence Viewer  
  AAA52002 (Get FASTA)   NCBI Sequence Viewer  
  AAA52003 (Get FASTA)   NCBI Sequence Viewer  
  AAA52004 (Get FASTA)   NCBI Sequence Viewer  
  AAA52040 (Get FASTA)   NCBI Sequence Viewer  
  AAA52041 (Get FASTA)   NCBI Sequence Viewer  
  AAB35615 (Get FASTA)   NCBI Sequence Viewer  
  AAB59383 (Get FASTA)   NCBI Sequence Viewer  
  AAD13937 (Get FASTA)   NCBI Sequence Viewer  
  AAH28178 (Get FASTA)   NCBI Sequence Viewer  
  AAL13167 (Get FASTA)   NCBI Sequence Viewer  
  AAY24164 (Get FASTA)   NCBI Sequence Viewer  
  ACZ58371 (Get FASTA)   NCBI Sequence Viewer  
  AGL34959 (Get FASTA)   NCBI Sequence Viewer  
  CAA25821 (Get FASTA)   NCBI Sequence Viewer  
  CAA25878 (Get FASTA)   NCBI Sequence Viewer  
  CAA25879 (Get FASTA)   NCBI Sequence Viewer  
  CAA29886 (Get FASTA)   NCBI Sequence Viewer  
  CAA30229 (Get FASTA)   NCBI Sequence Viewer  
  CAA32583 (Get FASTA)   NCBI Sequence Viewer  
  CAA33387 (Get FASTA)   NCBI Sequence Viewer  
  CDM55397 (Get FASTA)   NCBI Sequence Viewer  
  CDM55578 (Get FASTA)   NCBI Sequence Viewer  
  EAX10909 (Get FASTA)   NCBI Sequence Viewer  
  EAX10910 (Get FASTA)   NCBI Sequence Viewer  
  EAX10911 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000304408
  ENSP00000304408.4
  ENSP00000415346.2
GenBank Protein P02461 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000081   ⟸   NM_000090
- Peptide Label: preproprotein
- UniProtKB: R4N3C5 (UniProtKB/Swiss-Prot),   Q9UC91 (UniProtKB/Swiss-Prot),   Q9UC90 (UniProtKB/Swiss-Prot),   Q9UC89 (UniProtKB/Swiss-Prot),   Q9UC88 (UniProtKB/Swiss-Prot),   Q8N6U4 (UniProtKB/Swiss-Prot),   Q7KZ56 (UniProtKB/Swiss-Prot),   Q6LDJ3 (UniProtKB/Swiss-Prot),   Q6LDJ2 (UniProtKB/Swiss-Prot),   Q6LDB3 (UniProtKB/Swiss-Prot),   Q541P8 (UniProtKB/Swiss-Prot),   Q53S91 (UniProtKB/Swiss-Prot),   Q16403 (UniProtKB/Swiss-Prot),   Q15112 (UniProtKB/Swiss-Prot),   P78429 (UniProtKB/Swiss-Prot),   P02461 (UniProtKB/Swiss-Prot),   D3DPH4 (UniProtKB/Swiss-Prot),   D2JYH5 (UniProtKB/Swiss-Prot),   V9GZI1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000415346   ⟸   ENST00000450867
Ensembl Acc Id: ENSP00000315243   ⟸   ENST00000317840
Ensembl Acc Id: ENSP00000304408   ⟸   ENST00000304636
Ensembl Acc Id: ENSP00000519048   ⟸   ENST00000713744
Ensembl Acc Id: ENSP00000519049   ⟸   ENST00000713745
Protein Domains
Fibrillar collagen NC1   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02461-F1-model_v2 AlphaFold P02461 1-1466 view protein structure

Promoters
RGD ID:6862300
Promoter ID:EPDNEW_H4315
Type:initiation region
Name:COL3A1_1
Description:collagen type III 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
GRCh382188,974,373 - 188,974,433EPDNEW
RGD ID:6849508
Promoter ID:EP25041
Type:single initiation site
Name:HS_COL3A1
Description:alpha 1 type III collagen.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 142; Mammalian alpha 1 type III collagen
Tissues & Cell Lines:fibroblasts
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder; experiments; performed with closely related gene
Position:
Human AssemblyChrPosition (strand)Source
Build 362189,547,341 - 189,547,401EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2201 AgrOrtholog
COSMIC COL3A1 COSMIC
Ensembl Genes ENSG00000168542 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000304636 ENTREZGENE
  ENST00000304636.9 UniProtKB/Swiss-Prot
  ENST00000450867.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168542 GTEx
HGNC ID HGNC:2201 ENTREZGENE
Human Proteome Map COL3A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fib_collagen_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1281 UniProtKB/Swiss-Prot
NCBI Gene 1281 ENTREZGENE
OMIM 120180 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(III) CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COLFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26716 PharmGKB
PROSITE NC1_FIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART COLFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt CO3A1_HUMAN UniProtKB/Swiss-Prot
  D2JYH5 ENTREZGENE
  D3DPH4 ENTREZGENE
  H7C435_HUMAN UniProtKB/TrEMBL
  P02461 ENTREZGENE
  P78429 ENTREZGENE
  Q15112 ENTREZGENE
  Q16403 ENTREZGENE
  Q53S91 ENTREZGENE
  Q541P8 ENTREZGENE
  Q6LDB3 ENTREZGENE
  Q6LDJ2 ENTREZGENE
  Q6LDJ3 ENTREZGENE
  Q7KZ56 ENTREZGENE
  Q8N6U4 ENTREZGENE
  Q9UC88 ENTREZGENE
  Q9UC89 ENTREZGENE
  Q9UC90 ENTREZGENE
  Q9UC91 ENTREZGENE
  R4N3C5 ENTREZGENE
  V9GZG2_HUMAN UniProtKB/TrEMBL
  V9GZI1 ENTREZGENE
  V9GZL2_HUMAN UniProtKB/TrEMBL
  V9GZM1_HUMAN UniProtKB/TrEMBL
  V9GZS3_HUMAN UniProtKB/TrEMBL
UniProt Secondary D2JYH5 UniProtKB/Swiss-Prot
  D3DPH4 UniProtKB/Swiss-Prot
  P78429 UniProtKB/Swiss-Prot
  Q15112 UniProtKB/Swiss-Prot
  Q16403 UniProtKB/Swiss-Prot
  Q53S91 UniProtKB/Swiss-Prot
  Q541P8 UniProtKB/Swiss-Prot
  Q6LDB3 UniProtKB/Swiss-Prot
  Q6LDJ2 UniProtKB/Swiss-Prot
  Q6LDJ3 UniProtKB/Swiss-Prot
  Q7KZ56 UniProtKB/Swiss-Prot
  Q8N6U4 UniProtKB/Swiss-Prot
  Q9UC88 UniProtKB/Swiss-Prot
  Q9UC89 UniProtKB/Swiss-Prot
  Q9UC90 UniProtKB/Swiss-Prot
  Q9UC91 UniProtKB/Swiss-Prot
  R4N3C5 UniProtKB/Swiss-Prot
  V9GZI1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL3A1  collagen type III alpha 1 chain  COL3A1  collagen type III alpha 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL3A1  collagen type III alpha 1  COL3A1  collagen, type III, alpha 1  Symbol and/or name change 5135510 APPROVED