COL2A1 (collagen type II alpha 1 chain) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: COL2A1 (collagen type II alpha 1 chain) Homo sapiens
Analyze
Symbol: COL2A1
Name: collagen type II alpha 1 chain
RGD ID: 734037
HGNC Page HGNC:2200
Description: Enables several functions, including MHC class II protein binding activity; platelet-derived growth factor binding activity; and protein homodimerization activity. Involved in several processes, including collagen fibril organization; embryonic skeletal joint morphogenesis; and sensory perception of sound. Located in extracellular space. Part of collagen type II trimer. Implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-1 type II collagen; ANFH; AOM; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; chondrocalcin; COL11A3; collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II alpha 1; collagen, type II, alpha 1; MGC131516; SEDC; STL1
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
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,366,750 - 48,398,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
achondrogenesis type II  (EXP,IAGP,ISS)
Animal Disease Models  (EXP)
arthritis  (EXP)
asphyxiating thoracic dystrophy  (IAGP)
bone resorption disease  (EXP)
Bronchial Fistula  (ISO)
cartilage disease  (EXP)
cataract  (EXP)
chondrosarcoma  (EXP,IAGP)
chorioretinitis  (IAGP)
cleft palate  (EXP,IAGP)
Collagenopathy, Type 2 Alpha 1  (IAGP)
congenital heart disease  (IAGP)
connective tissue disease  (IAGP)
Craniofacial Abnormalities  (EXP)
Czech Dysplasia, Metatarsal Type  (EXP,IAGP)
degenerative disc disease  (ISO)
developmental dysplasia of the hip  (IAGP)
Dwarfism  (IAGP,ISO)
Edema  (EXP)
Erythema  (EXP)
Experimental Arthritis  (EXP)
eye disease  (IAGP)
Familial Thoracic Aortic Aneurysm 1  (IAGP)
Femur Head Necrosis  (EXP,IAGP,ISO)
Fetal Growth Retardation  (ISO)
fundus dystrophy  (IAGP)
genetic disease  (IAGP)
Hearing Loss  (IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
High Myopia  (IAGP)
Hyaloideoretinal Degeneration of Wagner  (EXP,IAGP)
Hyperplasia  (EXP)
hypochondrogenesis  (IAGP,ISS)
hypothyroidism  (ISO)
Inflammation  (EXP)
intellectual disability  (IAGP)
Kniest dysplasia  (EXP,IAGP)
Legg-Calve-Perthes disease  (EXP,IAGP)
Maffucci syndrome  (IAGP)
Marfan syndrome  (IAGP)
MASS Syndrome  (IAGP)
melanoma  (EXP)
multiple epiphyseal dysplasia with myopia and deafness  (EXP,IAGP)
myopia  (EXP,IAGP)
orofacial cleft 1  (IAGP)
osteoarthritis  (EXP,IAGP,ISO)
Osteoarthritis with Mild Chondrodysplasia  (EXP,IAGP)
osteochondrodysplasia  (EXP,IAGP,IMP,ISO)
otospondylomegaepiphyseal dysplasia, autosomal dominant  (IAGP)
otospondylomegaepiphyseal dysplasia, autosomal recessive  (EXP,IAGP)
Prognathism  (IAGP)
retinal detachment  (EXP,IAGP)
retinitis pigmentosa  (IAGP)
Rhegmatogenous Retinal Detachment, Autosomal Dominant  (IAGP)
rheumatoid arthritis  (EXP)
sensorineural hearing loss  (EXP)
spondyloarthropathy  (IAGP)
spondyloepimetaphyseal dysplasia  (ISS)
spondyloepimetaphyseal dysplasia, Strudwick type  (EXP,IAGP)
spondyloepiphyseal dysplasia congenita  (EXP,IAGP,ISO,ISS)
spondyloepiphyseal dysplasia Stanescu type  (IAGP)
spondylometaphyseal dysplasia  (IAGP)
spondylometaphyseal dysplasia corner fracture type  (IAGP)
spondyloperipheral dysplasia  (IAGP)
Stargardt disease  (IAGP)
Stickler syndrome  (IAGP)
Stickler syndrome 1  (EXP,IAGP,ISO)
Stickler Syndrome, Type I, Nonsyndromic Ocular  (EXP,IAGP)
synovitis  (EXP)
thoracic aortic aneurysm  (IAGP)
Torrance type platyspondylic dysplasia  (EXP,IAGP,ISO)
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  (IAGP)
Weight Loss  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (ISO)
(R)-carnitine  (ISO)
(R)-pantothenic acid  (ISO)
(S)-magnoflorine  (ISO)
(S)-nicotine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP,ISO)
2-butoxyethanol  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-(indol-3-yl)lactic acid  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-pyridoxic acid  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
acetaldehyde  (ISO)
acetic acid  (ISO)
aldehydo-D-glucosamine  (EXP,ISO)
alendronic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
allantoin  (ISO)
alpha-amanitin  (ISO)
amiloride  (ISO)
amino acid  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
astaxanthin  (ISO)
atrazine  (ISO)
Bavachinin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (EXP)
benzoic acid  (ISO)
berberine  (EXP)
beta-D-glucosamine  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromochloroacetic acid  (ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
carbamazepine  (ISO)
chlorogenic acid  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
citric acid  (ISO)
corticosterone  (ISO)
creatine  (ISO)
creatinine  (ISO)
crocin-1  (ISO)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP,ISO)
diethyl malate  (ISO)
dioxygen  (EXP)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (ISO)
entinostat  (EXP,ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
ferrostatin-1  (ISO)
fisetin  (ISO)
flavonoids  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
Fulvic acid  (ISO)
furan  (ISO)
gallic acid  (ISO)
Geniposide  (ISO)
genistein  (ISO)
graphite  (ISO)
hyaluronic acid  (ISO)
hydroquinone  (ISO)
immunological adjuvant  (ISO)
Indeno[1,2,3-cd]pyrene  (EXP)
indole-3-carboxylic acid  (ISO)
indometacin  (EXP,ISO)
irigenin  (EXP)
isoprenaline  (ISO)
kaempferol  (ISO)
keto-phenylpyruvic acid  (ISO)
kynurenic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
L-cysteine  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
lupeol  (ISO)
LY-2157299  (ISO)
mercaptopurine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methylparaben  (ISO)
mevalonic acid  (ISO)
mifepristone  (EXP,ISO)
Mofezolac (TN)  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
montelukast  (ISO)
morin  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-benzoylglycine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nicotine  (ISO)
O-acetyl-L-carnitine  (ISO)
O-palmitoylcarnitine  (ISO)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
p-aminohippuric acid  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
Phellodendrine  (ISO)
phenylacetylglycine  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
propranolol  (ISO)
prostaglandin E2  (ISO)
prostaglandin F2alpha  (ISO)
Ptaquiloside  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
simvastatin  (ISO)
sirolimus  (ISO)
sirtinol  (ISO)
sodium arsenite  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
spermidine  (ISO)
succinic acid  (ISO)
sulfamethoxazole  (ISO)
T-2 toxin  (ISO)
taurine  (ISO)
tetraphene  (EXP)
Theaflavin 3,3'-digallate  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
urethane  (EXP)
uridine  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP,ISO)
xanthurenic acid  (ISO)
yohimbine  (ISO)
zileuton  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (IEA)
anterior head development  (IEA,ISO)
bone development  (IEA,ISO)
cartilage condensation  (IEA,ISO)
cartilage development  (IEA,ISO,TAS)
cartilage development involved in endochondral bone morphogenesis  (IEA,ISO)
cellular response to BMP stimulus  (IEA,ISO)
cellular response to insulin-like growth factor stimulus  (ISO)
cellular response to mechanical stimulus  (ISO)
cellular response to nicotine  (ISO)
cellular response to parathyroid hormone stimulus  (ISO)
cellular response to peptide hormone stimulus  (ISO)
cellular response to retinoic acid  (ISO)
cellular response to tumor necrosis factor  (ISO)
cellular response to vitamin E  (ISO)
central nervous system development  (IEA)
chondrocyte differentiation  (IEA,ISO)
collagen fibril organization  (IBA,IEA,IMP,ISO)
embryonic skeletal joint morphogenesis  (IMP)
endochondral ossification  (IEA,ISO)
extrinsic apoptotic signaling pathway in absence of ligand  (IEA,ISO)
growth plate cartilage development  (ISO)
heart morphogenesis  (IEA,ISO)
inner ear development  (IEA,ISO)
inner ear morphogenesis  (IEA,ISO)
limb bud formation  (IEA)
limb morphogenesis  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IEA,ISO)
notochord development  (IBA,IEA)
ossification  (IEA)
otic vesicle development  (IEA)
proteoglycan metabolic process  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
response to fibroblast growth factor  (ISO)
response to mechanical stimulus  (ISO)
response to X-ray  (ISO)
roof of mouth development  (IEA,ISO)
sensory perception of sound  (IMP)
skeletal system development  (IBA,IMP)
skeletal system morphogenesis  (IEA,ISO)
tissue homeostasis  (IEA,ISO)
visual perception  (IMP)

Cellular Component

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

Human Phenotype
Abdominal distention  (IAGP)
Abnormal antitragus morphology  (IAGP)
Abnormal bone ossification  (IAGP)
Abnormal bone structure  (IAGP)
Abnormal carpal morphology  (IAGP)
Abnormal cartilage collagen  (IAGP)
Abnormal circulating osteocalcin level  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal epiphysis morphology of the phalanges of the hand  (IAGP)
Abnormal femoral epiphysis morphology  (IAGP)
Abnormal femoral neck/head morphology  (IAGP)
Abnormal fibula morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal ilium morphology  (IAGP)
Abnormal joint morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Abnormal retinal morphology  (IAGP)
Abnormal ulnar metaphysis morphology  (IAGP)
Abnormal vertebral epiphysis morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormal vitreous humor morphology  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the epiphysis of the femoral head  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Abnormality of the vertebral column  (IAGP)
Abnormality of the vertebral endplates  (IAGP)
Abnormality of the wrist  (IAGP)
Abnormally large globe  (IAGP)
Abnormally ossified vertebrae  (IAGP)
Absent styloid process of ulna  (IAGP)
Absent vertebral body mineralization  (IAGP)
Acetabular dysplasia  (IAGP)
Acetabular spurs  (IAGP)
Anisospondyly  (IAGP)
Anterior rib cupping  (IAGP)
Anterior vertebral fusion  (IAGP)
Anteverted nares  (IAGP)
Aplasia/hypoplasia involving bones of the extremities  (IAGP)
Aplasia/hypoplasia of the extremities  (IAGP)
Aplasia/Hypoplasia of the lens  (IAGP)
Arachnodactyly  (IAGP)
Arthralgia  (IAGP)
Arthralgia of the hip  (IAGP)
Arthritis  (IAGP)
Arthropathy  (IAGP)
Asteroid hyalosis  (IAGP)
Atlantoaxial instability  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Back pain  (IAGP)
Barrel-shaped chest  (IAGP)
Beaking of vertebral bodies  (IAGP)
Bell-shaped thorax  (IAGP)
Biconcave vertebral bodies  (IAGP)
Biconvex vertebral bodies  (IAGP)
Bifid uvula  (IAGP)
Bilateral ptosis  (IAGP)
Blindness  (IAGP)
Bowing of the long bones  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad hallux  (IAGP)
Broad long bones  (IAGP)
Broad palm  (IAGP)
Broad thumb  (IAGP)
C1-C2 subluxation  (IAGP)
C1-C2 vertebral abnormality  (IAGP)
Cardiorespiratory arrest  (IAGP)
Carious teeth  (IAGP)
Cartilage destruction  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Cervical instability  (IAGP)
Cervical myelopathy  (IAGP)
Cervical spine instability  (IAGP)
Childhood onset  (IAGP)
Cleft palate  (IAGP)
Cleft soft palate  (IAGP)
Clinodactyly  (IAGP)
Club-shaped proximal femur  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Congenital onset  (IAGP)
Corner fracture of metaphysis  (IAGP)
Coronal cleft vertebrae  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Crescent-shaped iliac bone  (IAGP)
Cystic hygroma  (IAGP)
Decreased cranial base ossification  (IAGP)
Degenerative vitreoretinopathy  (IAGP)
Delayed calcaneal ossification  (IAGP)
Delayed distal femoral epiphyseal ossification  (IAGP)
Delayed epiphyseal ossification  (IAGP)
Delayed gross motor development  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Delayed patellar ossification  (IAGP)
Delayed proximal femoral epiphyseal ossification  (IAGP)
Delayed pubic bone ossification  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed tibial epiphyseal ossification  (IAGP)
Delayed vertebral ossification  (IAGP)
Depressed nasal bridge  (IAGP)
Disc-like vertebral bodies  (IAGP)
Disproportionate short stature  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Disproportionate tall stature  (IAGP)
Dumbbell-shaped femur  (IAGP)
Dumbbell-shaped long bone  (IAGP)
Dysplasia of the femoral head  (IAGP)
Early young adult onset  (IAGP)
Edema  (IAGP)
Enlarged epiphyses  (IAGP)
Enlarged joints  (IAGP)
Enlarged metaphyses  (IAGP)
Epiphyseal dysplasia  (IAGP)
Erythematous plaque  (IAGP)
Exostoses  (IAGP)
Facial asymmetry  (IAGP)
Flared metaphysis  (IAGP)
Flat acetabular roof  (IAGP)
Flat capital femoral epiphysis  (IAGP)
Flat face  (IAGP)
Flattened epiphysis  (IAGP)
Flattened femoral head  (IAGP)
Flattened, squared-off epiphyses of tubular bones  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of finger  (IAGP)
Frontal bossing  (IAGP)
Fused cervical vertebrae  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized joint hypermobility  (IAGP)
Generalized osteoporosis  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Glaucoma  (IAGP)
Glossoptosis  (IAGP)
Groin pain  (IAGP)
Growth abnormality  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Heberden's node  (IAGP)
High myopia  (IAGP)
High palate  (IAGP)
Hip contracture  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hip osteoarthritis  (IAGP)
Hip pain  (IAGP)
Horizontal ribs  (IAGP)
Hydrops fetalis  (IAGP)
Hyperconvex vertebral body endplates  (IAGP)
Hyperlordosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplasia of the odontoid process  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic ischia  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypoplastic pubic bone  (IAGP)
Hypoplastic scapulae  (IAGP)
Hypotonia  (IAGP)
Impairment of activities of daily living  (IAGP)
Increased head circumference  (IAGP)
Increased susceptibility to fractures  (IAGP)
Increased urinary type 1 collagen N-terminal telopeptide level  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Internal tibial torsion  (IAGP)
Intervertebral space narrowing  (IAGP)
Iron deficiency anemia  (IAGP)
Irregular acetabular roof  (IAGP)
Irregular epiphyses  (IAGP)
Irregular femoral epiphysis  (IAGP)
Irregular iliac crest  (IAGP)
Irregular vertebral endplates  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Joint stiffness  (IAGP)
Juvenile onset  (IAGP)
Keratan sulfate excretion in urine  (IAGP)
Knee osteoarthritis  (IAGP)
Knee pain  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Laryngotracheomalacia  (IAGP)
Lattice retinal degeneration  (IAGP)
Lens luxation  (IAGP)
Lens subluxation  (IAGP)
Lethal skeletal dysplasia  (IAGP)
Limb pain  (IAGP)
Limb undergrowth  (IAGP)
Limitation of joint mobility  (IAGP)
Limitation of knee mobility  (IAGP)
Limited elbow extension  (IAGP)
Limited elbow movement  (IAGP)
Limited hip movement  (IAGP)
Long fingers  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Lower limb asymmetry  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lumbar kyphoscoliosis  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Maternal diabetes  (IAGP)
Membranous vitreous appearance  (IAGP)
Metaphyseal cupping  (IAGP)
Metaphyseal dappling  (IAGP)
Metaphyseal dysplasia  (IAGP)
Metaphyseal enchondromatosis  (IAGP)
Metaphyseal irregularity  (IAGP)
Metaphyseal widening  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Mitral valve prolapse  (IAGP)
Morbus Scheuermann  (IAGP)
Motor delay  (IAGP)
Multiple enchondromatosis  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Narrow femoral neck  (IAGP)
Narrow greater sciatic notch  (IAGP)
Narrow iliac wing  (IAGP)
Narrow mouth  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Neonatal short-limb short stature  (IAGP)
Neonatal short-trunk short stature  (IAGP)
Non-Mendelian inheritance  (IAGP)
Ocular hypertension  (IAGP)
Optically empty vitreous  (IAGP)
Osteoarthritis  (IAGP)
Osteochondroma  (IAGP)
Osteoporosis  (IAGP)
Ovoid vertebral bodies  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Pierre-Robin sequence  (IAGP)
Platyspondyly  (IAGP)
Pointed chin  (IAGP)
Polyhydramnios  (IAGP)
Poor suck  (IAGP)
Posteriorly rotated ears  (IAGP)
Preauricular skin tag  (IAGP)
Premature osteoarthritis  (IAGP)
Pretibial blistering  (IAGP)
Prominent forehead  (IAGP)
Proptosis  (IAGP)
Protruding ear  (IAGP)
Protuberant abdomen  (IAGP)
Pugilistic facies  (IAGP)
Pulmonary hypoplasia  (IAGP)
Radial bowing  (IAGP)
Recurrent otitis media  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory distress  (IAGP)
Restricted large joint movement  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal detachment  (IAGP)
Retinal dystrophy  (IAGP)
Retinal hole  (IAGP)
Retinal thinning  (IAGP)
Rhegmatogenous retinal detachment  (IAGP)
Rhizomelia  (IAGP)
Rhizomelic arm shortening  (IAGP)
Rhizomelic leg shortening  (IAGP)
Rod-cone dystrophy  (IAGP)
Round face  (IAGP)
Schmorl's node  (IAGP)
Scoliosis  (IAGP)
Second trimester onset  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe limb shortening  (IAGP)
Severe platyspondyly  (IAGP)
Severe short stature  (IAGP)
Short distal phalanx of finger  (IAGP)
Short distal phalanx of the 2nd finger  (IAGP)
Short distal phalanx of the 3rd finger  (IAGP)
Short distal phalanx of the 4th finger  (IAGP)
Short distal phalanx of the 5th finger  (IAGP)
Short femoral neck  (IAGP)
Short femur  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short iliac bones  (IAGP)
Short long bone  (IAGP)
Short lower limbs  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short stepped shuffling gait  (IAGP)
Short thorax  (IAGP)
Short thumb  (IAGP)
Short toe  (IAGP)
Short tubular bones of the hand  (IAGP)
Shortening of all middle phalanges of the fingers  (IAGP)
Shortening of all proximal phalanges of the fingers  (IAGP)
Skeletal dysplasia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin erosion  (IAGP)
Small earlobe  (IAGP)
Small epiphyses  (IAGP)
Spinal cord compression  (IAGP)
Spinal rigidity  (IAGP)
Splayed epiphyses  (IAGP)
Spondyloepimetaphyseal dysplasia  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Spondylolisthesis  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Stiff neck  (IAGP)
Stillbirth  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Thin ribs  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Thoracic hypoplasia  (IAGP)
Thoracic kyphosis  (IAGP)
Thoracolumbar kyphosis  (IAGP)
Tibial bowing  (IAGP)
Tracheomalacia  (IAGP)
Trismus  (IAGP)
Type E brachydactyly  (IAGP)
Umbilical hernia  (IAGP)
Underfolded helix  (IAGP)
Unossified sacrum  (IAGP)
Upper limb undergrowth  (IAGP)
Vertebral fusion  (IAGP)
Vertebral hypoplasia  (IAGP)
Vertebral segmentation defect  (IAGP)
Vertebral wedging  (IAGP)
Visual impairment  (IAGP)
Visual loss  (IAGP)
Vitreoretinopathy  (IAGP)
Waddling gait  (IAGP)
Wafer-thin platyspondyly  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Ahmad NN, etal., Arch Ophthalmol. 1995 Nov;113(11):1454-7.
2. PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. Ahmad NN, etal., J Med Genet. 1996 Aug;33(8):678-81.
3. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Ahmad NN, etal., Proc Natl Acad Sci U S A. 1991 Aug 1;88(15):6624-7.
4. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Ballo R, etal., Am J Med Genet. 1998 Oct 30;80(1):6-11.
5. Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. Cao LH, etal., Genet Mol Res. 2012 Dec 3;11(4):4130-7. doi: 10.4238/2012.September.27.1.
6. Precocious osteoarthritis in a family with recurrent COL2A1 mutation. Carlson KM, etal., J Rheumatol. 2006 Jun;33(6):1133-6.
7. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. Donahue LR, etal., J Bone Miner Res 2003 Sep;18(9):1612-21.
8. Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Edwards TL, etal., Clin Experiment Ophthalmol. 2012 Jul;40(5):476-83. doi: 10.1111/j.1442-9071.2012.02804.x. Epub 2012 Jun 19.
9. ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type. Furuichi T, etal., Mamm Genome. 2011 Jun;22(5-6):318-28. doi: 10.1007/s00335-011-9329-3. Epub 2011 May 3.
10. A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Gupta SK, etal., Am J Ophthalmol. 2002 Feb;133(2):203-10.
11. A rat tail temporary static compression model reproduces different stages of intervertebral disc degeneration with decreased notochordal cell phenotype. Hirata H, etal., J Orthop Res. 2014 Mar;32(3):455-63. doi: 10.1002/jor.22533. Epub 2013 Nov 28.
12. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP, etal., Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24.
13. [Preventive and therapeutic effects of Yiqi Huayu Recipe on degeneration of articular cartilage in rats with osteoarthritis]. Hou W, etal., Zhong Xi Yi Jie He Xue Bao. 2009 Feb;7(2):163-8.
14. Host genetic and epigenetic factors in toxoplasmosis. Jamieson SE, etal., Mem Inst Oswaldo Cruz. 2009 Mar;104(2):162-9.
15. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis. Jamieson SE, etal., PLoS One. 2008 Jun 4;3(6):e2285. doi: 10.1371/journal.pone.0002285.
16. Mechanism of Yiqi Huayu Bushen Recipe in treating cervical syndrome with kidney deficiency in rats Jiang JC, etal., Zhong Xi Yi Jie He Xue Bao. 2008 Dec;6(12):1280-5. doi: 10.3736/jcim200812114.
17. A mouse model for Stickler's syndrome: ocular phenotype of mice carrying a targeted heterozygous inactivation of type II (pro)collagen gene (Col2a1). Kaarniranta K, etal., Exp Eye Res. 2006 Aug;83(2):297-303. Epub 2006 Mar 20.
18. Premature arthritis is a distinct type II collagen phenotype. Kannu P, etal., Arthritis Rheum. 2010 May;62(5):1421-30. doi: 10.1002/art.27354.
19. New insights into the pathogenesis of glucocorticoid-induced avascular necrosis: microarray analysis of gene expression in a rat model. Kerachian MA, etal., Arthritis Res Ther. 2010;12(3):R124. doi: 10.1186/ar3062. Epub 2010 Jun 25.
20. Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy) Korkko J, etal., Am J Hum Genet. 1993 Jul;53(1):55-61.
21. Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model. Liang G, etal., PLoS One. 2014 Jan 27;9(1):e86894. doi: 10.1371/journal.pone.0086894. eCollection 2014.
22. Prolonged upright posture induces degenerative changes in intervertebral discs of rat cervical spine. Liang QQ, etal., Spine (Phila Pa 1976). 2011 Jan 1;36(1):E14-9. doi: 10.1097/BRS.0b013e3181d2dec2.
23. Stem cells protect the bronchial stump in rat, increasing sox6, col2a1, and agc1 expression. Llontop P, etal., Lung. 2014 Jun;192(3):441-8. doi: 10.1007/s00408-014-9569-6. Epub 2014 Mar 20.
24. Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. Mark PR, etal., Am J Med Genet A. 2011 Jan;155A(1):174-9. doi: 10.1002/ajmg.a.33762.
25. Endochondral bone formation in toothless (osteopetrotic) rats: failures of chondrocyte patterning and type X collagen expression. Marks SC Jr, etal., Int J Dev Biol 2000 Apr;44(3):309-16.
26. Czech dysplasia occurring in a Japanese family. Matsui Y, etal., Am J Med Genet A. 2009 Oct;149A(10):2285-9. doi: 10.1002/ajmg.a.33010.
27. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Metlapally R, etal., Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4080-6. doi: 10.1167/iovs.08-3346. Epub 2009 Apr 22.
28. Candidate gene and locus analysis of myopia. Mutti DO, etal., Mol Vis. 2007 Jun 28;13:1012-9.
29. Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. Nikopensius T, etal., Birth Defects Res A Clin Mol Teratol. 2010 Sep;88(9):748-56. doi: 10.1002/bdra.20700.
30. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
31. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
32. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
33. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. Richards AJ, etal., Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8.
38. Localization and thyroid hormone influenced expression of collagen II in ovarian tissue. Saha S, etal., Cell Physiol Biochem. 2007;19(1-4):67-76.
39. A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice. Sahlman J, etal., Arthritis Rheum. 2004 Oct;50(10):3153-60.
40. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype. Seegmiller RE, etal., J Histochem Cytochem. 2008 Nov;56(11):1003-11. doi: 10.1369/jhc.2008.951673. Epub 2008 Aug 4.
41. Caffeine-induced fetal rat over-exposure to maternal glucocorticoid and histone methylation of liver IGF-1 might cause skeletal growth retardation. Tan Y, etal., Toxicol Lett. 2012 Nov 15;214(3):279-87. doi: 10.1016/j.toxlet.2012.09.007. Epub 2012 Sep 17.
42. Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. Tarpey PS, etal., Nat Genet. 2013 Aug;45(8):923-6. doi: 10.1038/ng.2668. Epub 2013 Jun 16.
43. Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes. Tran-Viet KN, etal., Mol Vis. 2013 Apr 5;19:759-66. Print 2013.
44. Czech dysplasia: report of a large family and further delineation of the phenotype. Tzschach A, etal., Am J Med Genet A. 2008 Jul 15;146A(14):1859-64. doi: 10.1002/ajmg.a.32389.
45. Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome. Van Der Hout AH, etal., Hum Mutat. 2002 Sep;20(3):236.
46. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. Vu CD, etal., Ophthalmology. 2003 Jan;110(1):70-7.
47. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. Williams CJ, etal., Am J Med Genet. 1996 Jun 14;63(3):461-7.
48. Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation. Winterpacht A, etal., Hum Mutat. 1994;4(4):257-62.
49. Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population. Xue F, etal., Orthod Craniofac Res. 2014 Aug;17(3):144-9. doi: 10.1111/ocr.12038. Epub 2014 Jan 5.
50. Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis. Zechi-Ceide RM, etal., Eur J Med Genet. 2008 May-Jun;51(3):183-96. doi: 10.1016/j.ejmg.2007.12.008. Epub 2008 Jan 9.
Additional References at PubMed
PMID:1374906   PMID:1397263   PMID:1429602   PMID:1439770   PMID:1444917   PMID:1544908   PMID:1556676   PMID:1621990   PMID:1637314   PMID:1905723   PMID:1971141   PMID:1975693  
PMID:1985108   PMID:1999183   PMID:2010058   PMID:2059554   PMID:2081599   PMID:2229073   PMID:2300123   PMID:2339128   PMID:2355003   PMID:2446864   PMID:2543071   PMID:2572591  
PMID:2587267   PMID:2714801   PMID:2745554   PMID:2753125   PMID:2803268   PMID:2825137   PMID:2987845   PMID:3002437   PMID:3004202   PMID:3011107   PMID:3021582   PMID:3571333  
PMID:3800925   PMID:3840017   PMID:3857598   PMID:3997552   PMID:6320112   PMID:7520045   PMID:7550321   PMID:7699294   PMID:7757081   PMID:7757086   PMID:7829510   PMID:7847372  
PMID:7874117   PMID:7977371   PMID:7981752   PMID:8019561   PMID:8024616   PMID:8244341   PMID:8325895   PMID:8406454   PMID:8423604   PMID:8486375   PMID:8507190   PMID:8529631  
PMID:8609233   PMID:8660302   PMID:8723096   PMID:8723097   PMID:8723098   PMID:8778019   PMID:8863156   PMID:8900172   PMID:8948452   PMID:9061001   PMID:9066888   PMID:9101290  
PMID:9334230   PMID:9354468   PMID:9409248   PMID:9468540   PMID:9659900   PMID:9685393   PMID:9711874   PMID:9811967   PMID:10085302   PMID:10196235   PMID:10382266   PMID:10406661  
PMID:10486316   PMID:10678662   PMID:10706362   PMID:10729292   PMID:10745044   PMID:10772239   PMID:10797431   PMID:10982970   PMID:11007540   PMID:11121411   PMID:11292829   PMID:11368302  
PMID:11406351   PMID:11445564   PMID:11447232   PMID:11705992   PMID:11708863   PMID:11716775   PMID:11724554   PMID:11746045   PMID:11847210   PMID:11973338   PMID:12011698   PMID:12096843  
PMID:12186868   PMID:12200454   PMID:12205109   PMID:12223098   PMID:12360016   PMID:12393877   PMID:12429249   PMID:12429250   PMID:12477932   PMID:12485997   PMID:12544472   PMID:12637574  
PMID:12713737   PMID:12732631   PMID:12847218   PMID:12935820   PMID:12939326   PMID:14299791   PMID:14644246   PMID:14729840   PMID:15054848   PMID:15082485   PMID:15101818   PMID:15102076  
PMID:15179599   PMID:15316962   PMID:15466413   PMID:15489334   PMID:15522781   PMID:15643621   PMID:15713743   PMID:15731776   PMID:15895462   PMID:15922184   PMID:15930420   PMID:16001263  
PMID:16076844   PMID:16088915   PMID:16133074   PMID:16192646   PMID:16329077   PMID:16395149   PMID:16650379   PMID:16752401   PMID:16877351   PMID:16978902   PMID:17009260   PMID:17163530  
PMID:17195216   PMID:17217840   PMID:17335825   PMID:17394019   PMID:17437277   PMID:17509551   PMID:17568421   PMID:17580305   PMID:17683641   PMID:17721977   PMID:17876790   PMID:17994563  
PMID:18023161   PMID:18040638   PMID:18065760   PMID:18177466   PMID:18288556   PMID:18383211   PMID:18512791   PMID:18636947   PMID:18655132   PMID:18799084   PMID:18978274   PMID:19019890  
PMID:19180518   PMID:19433093   PMID:19473573   PMID:19756630   PMID:19790048   PMID:19814628   PMID:19913121   PMID:20204389   PMID:20301479   PMID:20529846   PMID:20569194   PMID:20592578  
PMID:20603131   PMID:20628086   PMID:20634891   PMID:21044884   PMID:21088911   PMID:21221577   PMID:21332586   PMID:21442341   PMID:21655647   PMID:21777803   PMID:21843649   PMID:21853276  
PMID:21853455   PMID:21873635   PMID:21924244   PMID:21940677   PMID:21988832   PMID:21993774   PMID:22049074   PMID:22068351   PMID:22189268   PMID:22241609   PMID:22319617   PMID:22495950  
PMID:22496037   PMID:22689318   PMID:22711552   PMID:22750747   PMID:22791362   PMID:22863613   PMID:22965811   PMID:23116329   PMID:23331625   PMID:23370687   PMID:23545312   PMID:23546968  
PMID:23618358   PMID:23631855   PMID:23658023   PMID:23851124   PMID:23873758   PMID:23882137   PMID:23918474   PMID:23928235   PMID:23932928   PMID:24014797   PMID:24088220   PMID:24164106  
PMID:24164447   PMID:24375478   PMID:24641900   PMID:24728947   PMID:24736929   PMID:24949742   PMID:24971869   PMID:25008205   PMID:25024164   PMID:25050885   PMID:25124518   PMID:25436060  
PMID:25521223   PMID:25735649   PMID:25818544   PMID:25863096   PMID:25900302   PMID:26030151   PMID:26037341   PMID:26183434   PMID:26186194   PMID:26250472   PMID:26311224   PMID:26345137  
PMID:26443184   PMID:26545783   PMID:26583473   PMID:26586363   PMID:26626311   PMID:26656045   PMID:26709265   PMID:27059630   PMID:27068509   PMID:27109135   PMID:27183340   PMID:27310669  
PMID:27390512   PMID:27406592   PMID:27408751   PMID:27428952   PMID:27559042   PMID:27569273   PMID:27881681   PMID:27888646   PMID:27991836   PMID:28059113   PMID:28095098   PMID:28302318  
PMID:28327460   PMID:28344315   PMID:28514442   PMID:28559201   PMID:28612031   PMID:28675934   PMID:28728848   PMID:28738883   PMID:28961166   PMID:29030641   PMID:29068597   PMID:29104872  
PMID:29439465   PMID:29750297   PMID:30015854   PMID:30130436   PMID:30181686   PMID:30187277   PMID:30575818   PMID:30740902   PMID:31021589   PMID:31302913   PMID:31486735   PMID:31736238  
PMID:31755234   PMID:31758797   PMID:31809639   PMID:31854518   PMID:31899252   PMID:31908402   PMID:31958497   PMID:31972903   PMID:32071555   PMID:32196734   PMID:32200603   PMID:32296183  
PMID:32427345   PMID:32756486   PMID:32814053   PMID:32896647   PMID:33181847   PMID:33961781   PMID:34004386   PMID:34088323   PMID:34182999   PMID:34238052   PMID:34298017   PMID:34349018  
PMID:34405586   PMID:34492360   PMID:34680973   PMID:35052477   PMID:35064646   PMID:35296718   PMID:35473494   PMID:35810711   PMID:36244648   PMID:36400164   PMID:36607699   PMID:37071682  
PMID:37107605   PMID:37278761   PMID:38246255   PMID:39238192  


Genomics

Comparative Map Data
COL2A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh371248,366,750 - 48,398,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36Build 36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBICelera
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBIT2T-CHM13v2.0
Col2a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391597,873,483 - 97,902,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1597,873,483 - 97,902,576 (-)EnsemblGRCm39 Ensembl
GRCm381597,975,602 - 98,004,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1597,975,602 - 98,004,695 (-)EnsemblGRCm38mm10GRCm38
MGSCv371597,806,033 - 97,835,155 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361597,803,005 - 97,832,679 (-)NCBIMGSCv36mm8
Celera15100,100,464 - 100,129,552 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1553.97NCBI
Col2a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87130,977,561 - 131,006,627 (-)NCBIGRCr8
mRatBN7.27129,098,489 - 129,127,560 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,098,786 - 129,127,546 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7130,895,443 - 130,924,189 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,120,981 - 133,149,729 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,033,447 - 133,062,197 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07139,454,945 - 139,484,403 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7139,455,242 - 139,483,997 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07139,646,698 - 139,675,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47136,679,219 - 136,707,976 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17136,755,655 - 136,784,413 (-)NCBI
Celera7125,589,749 - 125,618,504 (-)NCBICelera
RH 3.4 Map71096.2RGD
Cytogenetic Map7q36NCBI
Col2a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555006,860,771 - 6,885,473 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555006,860,771 - 6,885,466 (-)NCBIChiLan1.0ChiLan1.0
COL2A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21046,160,541 - 46,192,087 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11246,157,299 - 46,188,845 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01240,726,137 - 40,757,690 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11241,600,206 - 41,631,789 (+)NCBIpanpan1.1PanPan1.1panPan2
COL2A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1276,756,994 - 6,787,733 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl276,756,994 - 6,787,733 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2739,518,936 - 39,549,645 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0276,824,733 - 6,855,569 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl276,824,865 - 6,855,569 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,762,038 - 6,792,716 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0276,796,986 - 6,827,666 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02739,807,429 - 39,838,181 (-)NCBIUU_Cfam_GSD_1.0
Col2a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494567,272,043 - 67,302,897 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365125,861,933 - 5,892,853 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365125,861,933 - 5,894,898 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL2A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl578,350,137 - 78,380,718 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1578,350,131 - 78,380,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2581,530,406 - 81,554,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL2A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11144,196,213 - 44,227,718 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1144,196,094 - 44,227,468 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037202,151,602 - 202,183,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col2a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248164,274,219 - 4,304,513 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248164,273,969 - 4,304,519 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL2A1
2448 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) single nucleotide variant Achondrogenesis type II [RCV001805138]|not provided [RCV000520302] Chr12:47974271 [GRCh38]
Chr12:48368054 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3274-9_3274-6del microsatellite COL2A1-related disorder [RCV000709797]|not provided [RCV000523288] Chr12:47977161..47977164 [GRCh38]
Chr12:48370944..48370947 [GRCh37]
Chr12:12q13.11		 uncertain significance|not provided
NM_001844.5(COL2A1):c.1897G>A (p.Gly633Ser) single nucleotide variant not provided [RCV000521936] Chr12:47984131 [GRCh38]
Chr12:48377914 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3489+163_3597+2del deletion Spondyloepiphyseal dysplasia congenita [RCV000018894] Chr12:47975961..47976351 [GRCh38]
Chr12:48369744..48370134 [GRCh37]
Chr12:12q13.11-q13.2		 pathogenic
NM_001844.5(COL2A1):c.3510_3554dup (p.Pro1186_Pro1187insSerGlyLysAspGlyAlaAsnGlyIleProGlyProIleGlyPro) duplication Spondyloepiphyseal dysplasia congenita [RCV000018898] Chr12:47976005..47976006 [GRCh38]
Chr12:48369788..48369789 [GRCh37]
Chr12:12q13.11		 pathogenic
COL2A1 variation Spondyloepiphyseal dysplasia, namaqualand type [RCV000018900] Chr12:12q13.11-q13.2 pathogenic
NM_001844.5(COL2A1):c.2751del (p.Gly918fs) deletion Stickler syndrome type 1 [RCV000018902]|not provided [RCV002513111] Chr12:47978741 [GRCh38]
Chr12:48372524 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.906_924+9del deletion Kniest dysplasia [RCV000018906]|not provided [RCV003330396] Chr12:47993800..47993827 [GRCh38]
Chr12:48387583..48387610 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1420-2A>G single nucleotide variant Kniest dysplasia [RCV000018913]|Stickler syndrome type 1 [RCV002247359]|not provided [RCV002513112] Chr12:47986445 [GRCh38]
Chr12:48380228 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3978del (p.Asn1327fs) deletion Stickler syndrome type 1 [RCV000018916]|not provided [RCV001851924] Chr12:47974771 [GRCh38]
Chr12:48368554 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1222-2A>G single nucleotide variant Stickler syndrome type 1 [RCV000018917]|not provided [RCV002513113] Chr12:47987315 [GRCh38]
Chr12:48381098 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1266+1del deletion Kniest dysplasia [RCV000018918] Chr12:47987268 [GRCh38]
Chr12:48381051 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1581+5G>A single nucleotide variant Kniest dysplasia [RCV000018919] Chr12:47985907 [GRCh38]
Chr12:48379690 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4287_4291dup (p.Tyr1431fs) duplication Spondyloperipheral dysplasia [RCV000018923] Chr12:47974114..47974115 [GRCh38]
Chr12:48367897..48367898 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1680+1G>A single nucleotide variant Stickler syndrome type 1 [RCV000018925]|not provided [RCV001851925] Chr12:47985727 [GRCh38]
Chr12:48379510 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.171_172del (p.Cys57_Asp58delinsTer) microsatellite Stickler syndrome, type I, nonsyndromic ocular [RCV000018929]|not provided [RCV003556044] Chr12:48000039..48000040 [GRCh38]
Chr12:48393822..48393823 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4413_4416del (p.Gly1472fs) deletion Platyspondylic dysplasia, Torrance type [RCV000018932] Chr12:47973455..47973458 [GRCh38]
Chr12:48367238..48367241 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4337del (p.Gly1446fs) deletion Spondyloperipheral dysplasia [RCV000018933]|Stickler syndrome, type I, nonsyndromic ocular [RCV003338384] Chr12:47973534 [GRCh38]
Chr12:48367317 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.2149G>A (p.Gly717Ser) single nucleotide variant Avascular necrosis of femoral head, primary, 1 [RCV000018937] Chr12:47982892 [GRCh38]
Chr12:48376675 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.709-2A>G single nucleotide variant Stickler syndrome type 1 [RCV000018942] Chr12:47995310 [GRCh38]
Chr12:48389093 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3886+2T>C single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV000018943] Chr12:47975315 [GRCh38]
Chr12:48369098 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) single nucleotide variant Stickler syndrome type 1 [RCV001114314]|Type II Collagenopathies [RCV001112960]|not provided [RCV000728040] Chr12:47994442 [GRCh38]
Chr12:48388225 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2410-7C>T single nucleotide variant not provided [RCV000728047] Chr12:47981403 [GRCh38]
Chr12:48375186 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3111+2T>C single nucleotide variant Type 2 collagenopathy [RCV001788433] Chr12:47978008 [GRCh38]
Chr12:48371791 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2132G>A (p.Gly711Asp) single nucleotide variant not provided [RCV001564624] Chr12:47982909 [GRCh38]
Chr12:48376692 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) single nucleotide variant Connective tissue disorder [RCV002279503]|Stickler syndrome type 1 [RCV001109851]|Type II Collagenopathies [RCV001109850]|not provided [RCV000729624] Chr12:47974290 [GRCh38]
Chr12:48368073 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) single nucleotide variant not provided [RCV000729129] Chr12:47974116 [GRCh38]
Chr12:48367899 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.309+20T>A single nucleotide variant not provided [RCV002062915]|not specified [RCV000602788] Chr12:47998395 [GRCh38]
Chr12:48392178 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1129G>T (p.Ala377Ser) single nucleotide variant not provided [RCV000521575] Chr12:47987703 [GRCh38]
Chr12:48381486 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) single nucleotide variant Stickler syndrome type 1 [RCV001110114]|Type II Collagenopathies [RCV001110115]|not provided [RCV000950442] Chr12:47982911 [GRCh38]
Chr12:48376694 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2671G>C (p.Gly891Arg) single nucleotide variant Achondrogenesis type II [RCV000022480] Chr12:47980017 [GRCh38]
Chr12:48373800 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1547G>A (p.Gly516Asp) single nucleotide variant Achondrogenesis type II [RCV000022481] Chr12:47985946 [GRCh38]
Chr12:48379729 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1637G>T (p.Gly546Val) single nucleotide variant Achondrogenesis type II [RCV000022483] Chr12:47985771 [GRCh38]
Chr12:48379554 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) single nucleotide variant Avascular necrosis of femoral head, primary, 1 [RCV000022484]|COL2A1-related disorder [RCV004532397]|not provided [RCV000523016] Chr12:47974258 [GRCh38]
Chr12:48368041 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3220G>A (p.Gly1074Ser) single nucleotide variant Hypochondrogenesis [RCV000018895] Chr12:47977373 [GRCh38]
Chr12:48371156 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2155C>T (p.Arg719Cys) single nucleotide variant Namaqualand hip dysplasia [RCV000018896]|not provided [RCV001390123] Chr12:47982886 [GRCh38]
Chr12:48376669 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter) single nucleotide variant Stickler syndrome type 1 [RCV000018899]|not provided [RCV000726311] Chr12:47978698 [GRCh38]
Chr12:48372481 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2320G>A (p.Gly774Ser) single nucleotide variant Hypochondrogenesis [RCV000018901] Chr12:47982142 [GRCh38]
Chr12:48375925 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3158G>A (p.Gly1053Glu) single nucleotide variant Hypochondrogenesis [RCV000018903] Chr12:47977607 [GRCh38]
Chr12:48371390 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter) single nucleotide variant Stickler syndrome type 1 [RCV000018904]|not provided [RCV000579130] Chr12:47995904 [GRCh38]
Chr12:48389687 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser) single nucleotide variant Connective tissue disorder [RCV002276564]|Namaqualand hip dysplasia [RCV002272023]|Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001729352]|Spondyloepiphyseal dysplasia congenita [RCV000018905]|Spondyloperipheral dysplasia [RCV003152666]|Stickler syndrome type 1 [RCV002247358]|Type 2 collagenopathy [RCV003320353]|not provided [RCV000484896] Chr12:47975971 [GRCh38]
Chr12:48369754 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1060G>A (p.Gly354Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV002280862] Chr12:47989769 [GRCh38]
Chr12:48383552 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV000018908] Chr12:47994440 [GRCh38]
Chr12:48388223 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3138del (p.Gly1047fs) deletion Stickler syndrome type 1 [RCV000018909]|not provided [RCV000725373] Chr12:47977627 [GRCh38]
Chr12:48371410 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys) single nucleotide variant Achondrogenesis type II [RCV000762895]|Spondyloepiphyseal dysplasia congenita [RCV000018910]|Spondyloperipheral dysplasia [RCV000995718]|not provided [RCV000478360] Chr12:47978329 [GRCh38]
Chr12:48372112 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV002509163] Chr12:47979519 [GRCh38]
Chr12:48373302 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys) single nucleotide variant Acetabular dysplasia [RCV003228897]|Achondrogenesis type II [RCV003323361]|Spondyloepiphyseal dysplasia with metatarsal shortening [RCV000018912]|Stickler syndrome type 1 [RCV000988828]|not provided [RCV001385337] Chr12:47994041 [GRCh38]
Chr12:48387824 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp) single nucleotide variant Kniest dysplasia [RCV000018914]|not provided [RCV000724305] Chr12:47993825 [GRCh38]
Chr12:48387608 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2905G>A (p.Gly969Ser) single nucleotide variant Achondrogenesis type II [RCV000018915] Chr12:47978389 [GRCh38]
Chr12:48372172 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV002509164]|not provided [RCV000380315] Chr12:47986353 [GRCh38]
Chr12:48380136 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1475G>T (p.Gly492Val) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV002509165] Chr12:47986388 [GRCh38]
Chr12:48380171 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys) single nucleotide variant Multiple epiphyseal dysplasia, Beighton type [RCV000018922]|Myopia [RCV000414959]|Stickler syndrome type 1 [RCV004595885]|not provided [RCV000513905] Chr12:47979534 [GRCh38]
Chr12:48373317 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3517G>C (p.Gly1173Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV000018924] Chr12:47976043 [GRCh38]
Chr12:48369826 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys) single nucleotide variant Achondrogenesis type II [RCV001197973]|COL2A1-related disorder [RCV004528123]|Retinal dystrophy [RCV001074673]|Stickler syndrome type 1 [RCV000018926]|Stickler syndrome, type I, nonsyndromic ocular [RCV001807733]|not provided [RCV000413561] Chr12:47985575 [GRCh38]
Chr12:48379358 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe) single nucleotide variant Stickler syndrome type 1 [RCV000144727]|Stickler syndrome, type I, nonsyndromic ocular [RCV000018927] Chr12:47983435 [GRCh38]
Chr12:48377218 [GRCh37]
Chr12:12q13.11		 pathogenic|not provided
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) single nucleotide variant COL2A1-related disorder [RCV004734525]|Spondyloepiphyseal dysplasia congenita [RCV000018928]|Spondyloperipheral dysplasia [RCV000190574]|not provided [RCV001299254] Chr12:47974090 [GRCh38]
Chr12:48367873 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp) single nucleotide variant Vitreoretinopathy with phalangeal epiphyseal dysplasia [RCV000018930] Chr12:47974835 [GRCh38]
Chr12:48368618 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4172A>G (p.Tyr1391Cys) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV000018931]|Spondyloperipheral dysplasia [RCV000022482]|not provided [RCV001377068] Chr12:47974234 [GRCh38]
Chr12:48368017 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4314C>A (p.Cys1438Ter) single nucleotide variant Spondyloperipheral dysplasia [RCV000018934] Chr12:47974092 [GRCh38]
Chr12:48367875 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3508G>A (p.Gly1170Ser) single nucleotide variant Avascular necrosis of femoral head, primary, 1 [RCV000018935]|Legg-Calve-Perthes disease [RCV000018936]|not provided [RCV001382419] Chr12:47976052 [GRCh38]
Chr12:48369835 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) single nucleotide variant Achondrogenesis type II [RCV000762896]|Autosomal dominant rhegmatogenous retinal detachment [RCV000018939]|Stickler syndrome [RCV004689424]|Stickler syndrome type 1 [RCV000018938]|not provided [RCV000481275] Chr12:47983721 [GRCh38]
Chr12:48377504 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.952G>A (p.Gly318Arg) single nucleotide variant Autosomal dominant rhegmatogenous retinal detachment [RCV000018940]|not provided [RCV001851926] Chr12:47993475 [GRCh38]
Chr12:48387258 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2974A>G (p.Arg992Gly) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV002509166]|not provided [RCV001851927] Chr12:47978320 [GRCh38]
Chr12:48372103 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV000018944] Chr12:48000070 [GRCh38]
Chr12:48393853 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter) single nucleotide variant COL2A1-related disorder [RCV004532390]|Stickler syndrome type 1 [RCV002470714]|Stickler syndrome, type I, nonsyndromic ocular [RCV000018945]|not provided [RCV000657640] Chr12:48000019 [GRCh38]
Chr12:48393802 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV000018946] Chr12:48000041 [GRCh38]
Chr12:48393824 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.4(COL2A1):c.4131C>T (p.Phe1377=) single nucleotide variant Malignant melanoma [RCV000062509] Chr12:47974275 [GRCh38]
Chr12:48368058 [GRCh37]
Chr12:46654325 [NCBI36]
Chr12:12q13.11		 not provided
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) single nucleotide variant Connective tissue disorder [RCV000659405]|Stickler syndrome type 1 [RCV001113968]|Type II Collagenopathies [RCV001112622]|not provided [RCV001511229] Chr12:47975480 [GRCh38]
Chr12:48369263 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.969+13A>G single nucleotide variant Connective tissue disorder [RCV000659388]|not provided [RCV000827348] Chr12:47993445 [GRCh38]
Chr12:48387228 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2049+1G>A single nucleotide variant Stickler syndrome type 1 [RCV000659394] Chr12:47983384 [GRCh38]
Chr12:48377167 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2355+2del deletion Stickler syndrome type 1 [RCV000659398] Chr12:47982105 [GRCh38]
Chr12:48375888 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.4(COL2A1):c.971delG deletion Stickler syndrome type 1 [RCV000659389] Chr12:47992930 [GRCh38]
Chr12:48386713 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=) single nucleotide variant Connective tissue disorder [RCV000659397]|Stickler syndrome type 1 [RCV002470945]|not provided [RCV002066958] Chr12:47982158 [GRCh38]
Chr12:48375941 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4149G>T (p.Thr1383=) single nucleotide variant Connective tissue disorder [RCV000659408] Chr12:47974257 [GRCh38]
Chr12:48368040 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1052del (p.Gly351fs) deletion not provided [RCV000175162] Chr12:47989777 [GRCh38]
Chr12:48383560 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) single nucleotide variant Stickler syndrome type 1 [RCV000316658]|Type II Collagenopathies [RCV000371359]|not provided [RCV001513960]|not specified [RCV000079724] Chr12:47981785 [GRCh38]
Chr12:48375568 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) single nucleotide variant Stickler syndrome type 1 [RCV000406531]|Type II Collagenopathies [RCV000342882]|not provided [RCV001512353]|not specified [RCV000079725] Chr12:48004297 [GRCh38]
Chr12:48398080 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) single nucleotide variant Connective tissue disorder [RCV002277142]|Stickler syndrome type 1 [RCV000344233]|Type II Collagenopathies [RCV000394303]|not provided [RCV001521628]|not specified [RCV000079726] Chr12:47980015 [GRCh38]
Chr12:48373798 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) single nucleotide variant Inborn genetic diseases [RCV003242977]|Stickler syndrome type 1 [RCV000283561]|Type II Collagenopathies [RCV000378068]|not provided [RCV000079727] Chr12:47974685 [GRCh38]
Chr12:48368468 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.85+18C>G single nucleotide variant not provided [RCV001511426]|not specified [RCV000079728] Chr12:48004219 [GRCh38]
Chr12:48398002 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3435+19G>A single nucleotide variant not provided [RCV001813088] Chr12:47976793 [GRCh38]
Chr12:48370576 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3648T>C (p.Pro1216=) single nucleotide variant not provided [RCV001812330] Chr12:47975555 [GRCh38]
Chr12:48369338 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.762+1G>A single nucleotide variant not provided [RCV000174056] Chr12:47995254 [GRCh38]
Chr12:48389037 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3230G>T (p.Gly1077Val) single nucleotide variant not provided [RCV000171212] Chr12:47977363 [GRCh38]
Chr12:48371146 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1056del (p.Ala353fs) deletion not provided [RCV000175163] Chr12:47989773 [GRCh38]
Chr12:48383556 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) single nucleotide variant COL2A1-related disorder [RCV004533444]|Inborn genetic diseases [RCV004609480]|Stickler syndrome type 1 [RCV000659383]|not provided [RCV001387827] Chr12:48000055 [GRCh38]
Chr12:48393838 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1114G>A (p.Gly372Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV000659390] Chr12:47989236 [GRCh38]
Chr12:48383019 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser) single nucleotide variant Stickler syndrome type 1 [RCV000659391]|not provided [RCV001868174] Chr12:47987655 [GRCh38]
Chr12:48381438 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2236C>T (p.Pro746Ser) single nucleotide variant Connective tissue disorder [RCV000659396] Chr12:47982567 [GRCh38]
Chr12:48376350 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3635G>C (p.Gly1212Ala) single nucleotide variant Stickler syndrome type 1 [RCV000659404] Chr12:47975568 [GRCh38]
Chr12:48369351 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1214del (p.Gly405fs) deletion not provided [RCV000175420] Chr12:47987618 [GRCh38]
Chr12:48381401 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) single nucleotide variant Achondrogenesis type II [RCV000762897]|not provided [RCV000255165] Chr12:47999953 [GRCh38]
Chr12:48393736 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) single nucleotide variant Connective tissue disorder [RCV002277364]|Stickler syndrome type 1 [RCV000325313]|Type II Collagenopathies [RCV000291237]|not provided [RCV000953314]|not specified [RCV000175701] Chr12:47999998 [GRCh38]
Chr12:48393781 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3357_3358insCT (p.Glu1120fs) insertion Stickler syndrome [RCV000149457] Chr12:47976889..47976890 [GRCh38]
Chr12:48370672..48370673 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1191_1199dup (p.Ser400_Gly402dup) duplication Stickler syndrome [RCV000149458] Chr12:47987632..47987633 [GRCh38]
Chr12:48381415..48381416 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1358G>C (p.Gly453Ala) single nucleotide variant not provided [RCV000176186] Chr12:47987085 [GRCh38]
Chr12:48380868 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1799G>T (p.Gly600Val) single nucleotide variant not provided [RCV000176730] Chr12:47985029 [GRCh38]
Chr12:48378812 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1861G>A (p.Gly621Arg) single nucleotide variant not provided [RCV000176855] Chr12:47984572 [GRCh38]
Chr12:48378355 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1924G>T (p.Gly642Ter) single nucleotide variant not provided [RCV000176926] Chr12:47984104 [GRCh38]
Chr12:48377887 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) single nucleotide variant Inborn genetic diseases [RCV000622876]|Spondyloperipheral dysplasia [RCV000985160]|not provided [RCV000176384] Chr12:47986353 [GRCh38]
Chr12:48380136 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1420-2A>C single nucleotide variant not provided [RCV000176387] Chr12:47986445 [GRCh38]
Chr12:48380228 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) single nucleotide variant Connective tissue disorder [RCV002277373]|not provided [RCV000962471]|not specified [RCV000176388] Chr12:47986430 [GRCh38]
Chr12:48380213 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) single nucleotide variant Stickler syndrome type 1 [RCV000988819]|not provided [RCV000479858] Chr12:47978015 [GRCh38]
Chr12:48371798 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) single nucleotide variant not provided [RCV000178624] Chr12:47977154 [GRCh38]
Chr12:48370937 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4447_4450del (p.Pro1483fs) deletion not provided [RCV000179141] Chr12:47973421..47973424 [GRCh38]
Chr12:48367204..48367207 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3464G>A (p.Gly1155Asp) single nucleotide variant not provided [RCV001812434] Chr12:47976539 [GRCh38]
Chr12:48370322 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2428G>T (p.Gly810Cys) single nucleotide variant not provided [RCV000177904] Chr12:47981378 [GRCh38]
Chr12:48375161 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2530C>T (p.Gln844Ter) single nucleotide variant not provided [RCV000177979] Chr12:47980649 [GRCh38]
Chr12:48374432 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3791_3794del (p.Asn1264fs) deletion not provided [RCV000179086] Chr12:47975409..47975412 [GRCh38]
Chr12:48369192..48369195 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) single nucleotide variant Connective tissue disorder [RCV002277419]|Stickler syndrome type 1 [RCV001109852]|Type II Collagenopathies [RCV001109853]|not provided [RCV000952979]|not specified [RCV000179120] Chr12:47974302 [GRCh38]
Chr12:48368085 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) single nucleotide variant Stickler syndrome type 1 [RCV000260987]|Type II Collagenopathies [RCV000332793]|not provided [RCV001512352]|not specified [RCV000179829] Chr12:47997633 [GRCh38]
Chr12:48391416 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2690G>T (p.Gly897Val) single nucleotide variant not provided [RCV001810560] Chr12:47979554 [GRCh38]
Chr12:48373337 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2492G>T (p.Gly831Val) single nucleotide variant not provided [RCV000515111] Chr12:47980940 [GRCh38]
Chr12:48374723 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3160G>A (p.Val1054Ile) single nucleotide variant Achondrogenesis type II [RCV001332047]|COL2A1-related disorder [RCV004734105]|not provided [RCV001300288] Chr12:47977605 [GRCh38]
Chr12:48371388 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) deletion Connective tissue disorder [RCV002277280]|not provided [RCV000132770] Chr12:47973482..47973484 [GRCh38]
Chr12:48367265..48367267 [GRCh37]
Chr12:12q13.11		 likely pathogenic|not provided
NM_001844.5(COL2A1):c.3980A>G (p.Asn1327Ser) single nucleotide variant not provided [RCV001348996] Chr12:47974769 [GRCh38]
Chr12:48368552 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.870+5G>A single nucleotide variant COL2A1-related disorder [RCV004537369]|not provided [RCV000174511] Chr12:47993989 [GRCh38]
Chr12:48387772 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) single nucleotide variant not provided [RCV000259706] Chr12:47989235 [GRCh38]
Chr12:48383018 [GRCh37]
Chr12:12q13.11		 likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) single nucleotide variant Achondrogenesis type II [RCV002483325]|COL2A1-related disorder [RCV004532721]|Connective tissue disorder [RCV000680495]|Stickler syndrome type 1 [RCV000330779]|Type II Collagenopathies [RCV000276831]|not provided [RCV000961069]|not specified [RCV000153077] Chr12:47982128 [GRCh38]
Chr12:48375911 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.85+1G>C single nucleotide variant not provided [RCV000173262] Chr12:48004236 [GRCh38]
Chr12:48398019 [GRCh37]
Chr12:12q13.11		 pathogenic
COL2A1, GLY207ARG variation SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE [RCV000193419]|Spondyloepiphyseal dysplasia, stanescu type [RCV000193419]   pathogenic
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001194467]|Type 2 collagenopathy [RCV002272197]|not provided [RCV000254943]|not specified [RCV002248493] Chr12:47978659 [GRCh38]
Chr12:48372442 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance|not provided
NM_001844.5(COL2A1):c.2709C>T (p.Gly903=) single nucleotide variant not provided [RCV000178458] Chr12:47979535 [GRCh38]
Chr12:48373318 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2680-9C>T single nucleotide variant COL2A1-related disorder [RCV004537465]|Stickler syndrome type 1 [RCV001110028]|Type II Collagenopathies [RCV001110029]|not provided [RCV000723611] Chr12:47979573 [GRCh38]
Chr12:48373356 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4306G>A (p.Asp1436Asn) single nucleotide variant not provided [RCV000179119] Chr12:47974100 [GRCh38]
Chr12:48367883 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) single nucleotide variant not provided [RCV000179142] Chr12:47973457 [GRCh38]
Chr12:48367240 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) single nucleotide variant COL2A1-related disorder [RCV004734793]|not provided [RCV000177457] Chr12:47983716 [GRCh38]
Chr12:48377499 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2015G>C (p.Gly672Ala) single nucleotide variant not provided [RCV000290485] Chr12:47983419 [GRCh38]
Chr12:48377202 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2156G>T (p.Arg719Leu) single nucleotide variant not provided [RCV000177735] Chr12:47982885 [GRCh38]
Chr12:48376668 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) single nucleotide variant Stickler syndrome type 1 [RCV000382831]|Type II Collagenopathies [RCV000328306]|not provided [RCV000177768] Chr12:47982517 [GRCh38]
Chr12:48376300 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3943T>G (p.Cys1315Gly) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV000190277] Chr12:47974806 [GRCh38]
Chr12:48368589 [GRCh37]
Chr12:12q13.11		 not provided
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) single nucleotide variant Stickler syndrome type 1 [RCV000373035]|Type II Collagenopathies [RCV000278404]|not provided [RCV000322902] Chr12:47985774 [GRCh38]
Chr12:48379557 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3301G>A (p.Gly1101Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV000205306] Chr12:47977128 [GRCh38]
Chr12:48370911 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2813del (p.Pro938fs) deletion COL2A1-related disorder [RCV004529456]|not provided [RCV000255509] Chr12:47978679 [GRCh38]
Chr12:48372462 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1369G>T (p.Glu457Ter) single nucleotide variant not provided [RCV000579316] Chr12:47986885 [GRCh38]
Chr12:48380668 [GRCh37]
Chr12:12q13.11		 pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_001844.5(COL2A1):c.1717G>A (p.Gly573Ser) single nucleotide variant not provided [RCV000755952] Chr12:47985551 [GRCh38]
Chr12:48379334 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.905C>T (p.Ala302Val) single nucleotide variant Abnormality of the skeletal system [RCV001814182]|Achondrogenesis type II [RCV002506265]|Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001027723]|Spondyloepiphyseal dysplasia congenita [RCV001254635]|Type II Collagenopathies [RCV003403225]|not provided [RCV000518971] Chr12:47993828 [GRCh38]
Chr12:48387611 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3597+1G>A single nucleotide variant not provided [RCV000519873] Chr12:47975962 [GRCh38]
Chr12:48369745 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.619G>A (p.Gly207Arg) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV000210454]|not provided [RCV001385339] Chr12:47995910 [GRCh38]
Chr12:48389693 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2752G>C (p.Gly918Arg) single nucleotide variant not provided [RCV000757108] Chr12:47978740 [GRCh38]
Chr12:48372523 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) single nucleotide variant Connective tissue disorder [RCV000659400]|Stickler syndrome type 1 [RCV001110809]|Type II Collagenopathies [RCV001110810]|not provided [RCV000959727]|not specified [RCV000239357] Chr12:47980605 [GRCh38]
Chr12:48374388 [GRCh37]
Chr12:12q13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3274-17G>A single nucleotide variant not specified [RCV000599814] Chr12:47977172 [GRCh38]
Chr12:48370955 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) single nucleotide variant COL2A1-related disorder [RCV004535396]|Connective tissue disorder [RCV000659407]|Stickler syndrome type 1 [RCV000313638]|Type II Collagenopathies [RCV000404529]|not provided [RCV000726063] Chr12:47975417 [GRCh38]
Chr12:48369200 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1267-19C>A single nucleotide variant not provided [RCV003767705]|not specified [RCV000601003] Chr12:47987195 [GRCh38]
Chr12:48380978 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.255C>T (p.Cys85=) single nucleotide variant Connective tissue disorder [RCV000659385] Chr12:47999956 [GRCh38]
Chr12:48393739 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) single nucleotide variant Connective tissue disorder [RCV000659393] Chr12:47985937 [GRCh38]
Chr12:48379720 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2582G>A (p.Gly861Asp) single nucleotide variant Skeletal dysplasia [RCV000584780] Chr12:47980597 [GRCh38]
Chr12:48374380 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) single nucleotide variant Connective tissue disorder [RCV000659386]|Stickler syndrome type 1 [RCV001111049]|Type II Collagenopathies [RCV001111050]|not provided [RCV001433646] Chr12:47996607 [GRCh38]
Chr12:48390390 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2381del (p.Pro794fs) deletion Stickler syndrome type 1 [RCV000659399]|not provided [RCV001269590] Chr12:47981804 [GRCh38]
Chr12:48375587 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2819G>C (p.Arg940Pro) single nucleotide variant Connective tissue disorder [RCV000659401]|Inborn genetic diseases [RCV003278978] Chr12:47978673 [GRCh38]
Chr12:48372456 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2094+12G>C single nucleotide variant Stickler syndrome type 1 [RCV000339656]|Type II Collagenopathies [RCV000406323]|not provided [RCV001515350]|not specified [RCV000243645] Chr12:47983081 [GRCh38]
Chr12:48376864 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1680+17C>T single nucleotide variant not provided [RCV001518053]|not specified [RCV000246066] Chr12:47985711 [GRCh38]
Chr12:48379494 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) single nucleotide variant Connective tissue disorder [RCV002277619]|Stickler syndrome type 1 [RCV001110952]|Type II Collagenopathies [RCV001110953]|not provided [RCV000948887]|not specified [RCV000248531] Chr12:47987611 [GRCh38]
Chr12:48381394 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.762+15G>A single nucleotide variant Stickler syndrome type 1 [RCV000387581]|Type II Collagenopathies [RCV000290907]|not provided [RCV001521969]|not specified [RCV000253329] Chr12:47995240 [GRCh38]
Chr12:48389023 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp) single nucleotide variant Hearing impairment [RCV001375460]|not provided [RCV000487637] Chr12:47975485 [GRCh38]
Chr12:48369268 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1123-35TTC[2] microsatellite not specified [RCV000243774] Chr12:47987736..47987738 [GRCh38]
Chr12:48381519..48381521 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+7G>A single nucleotide variant Achondrogenesis type II [RCV002500884]|Connective tissue disorder [RCV002277620]|Stickler syndrome type 1 [RCV000360578]|Type II Collagenopathies [RCV000305901]|not provided [RCV000991606]|not specified [RCV000243800] Chr12:47987262 [GRCh38]
Chr12:48381045 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2409+9C>T single nucleotide variant not provided [RCV001402124]|not specified [RCV000246271] Chr12:47981767 [GRCh38]
Chr12:48375550 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-4C>G single nucleotide variant not provided [RCV001465006]|not specified [RCV000248629] Chr12:47993866 [GRCh38]
Chr12:48387649 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+19del deletion not provided [RCV001518546]|not specified [RCV000253628] Chr12:47987250 [GRCh38]
Chr12:48381033 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1681-38G>A single nucleotide variant not provided [RCV001636767]|not specified [RCV000251199] Chr12:47985625 [GRCh38]
Chr12:48379408 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1366-11C>T single nucleotide variant Stickler syndrome type 1 [RCV000309381]|Type II Collagenopathies [RCV000395917]|not provided [RCV001521968]|not specified [RCV000253720] Chr12:47986899 [GRCh38]
Chr12:48380682 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2193+32G>A single nucleotide variant not provided [RCV001689831]|not specified [RCV000244042] Chr12:47982816 [GRCh38]
Chr12:48376599 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) single nucleotide variant Stickler syndrome type 1 [RCV000325373]|Type II Collagenopathies [RCV000270221]|not provided [RCV001521247]|not specified [RCV000246569] Chr12:47984597 [GRCh38]
Chr12:48378380 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) single nucleotide variant Connective tissue disorder [RCV000680497]|Stickler syndrome type 1 [RCV001110201]|Type II Collagenopathies [RCV001110202]|not provided [RCV000893948]|not specified [RCV000248974] Chr12:47987156 [GRCh38]
Chr12:48380939 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2302-32T>C single nucleotide variant not provided [RCV000834168]|not specified [RCV000253952] Chr12:47982192 [GRCh38]
Chr12:48375975 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) single nucleotide variant Achondrogenesis type II [RCV002500885]|Connective tissue disorder [RCV002277622]|Stickler syndrome type 1 [RCV000364743]|Type II Collagenopathies [RCV000328788]|not provided [RCV000885233]|not specified [RCV000246694] Chr12:47984115 [GRCh38]
Chr12:48377898 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) single nucleotide variant Stickler syndrome type 1 [RCV000385327]|Type II Collagenopathies [RCV000292068]|not provided [RCV001513961]|not specified [RCV000249196] Chr12:47982508 [GRCh38]
Chr12:48376291 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1888-47T>C single nucleotide variant not provided [RCV000834165]|not specified [RCV000241915] Chr12:47984187 [GRCh38]
Chr12:48377970 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4317+43C>T single nucleotide variant not provided [RCV001640516]|not specified [RCV000244448] Chr12:47974046 [GRCh38]
Chr12:48367829 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2376C>A (p.Gly792=) single nucleotide variant not specified [RCV000249288] Chr12:47981809 [GRCh38]
Chr12:48375592 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2050-49G>T single nucleotide variant not provided [RCV000834312]|not specified [RCV000251851] Chr12:47983186 [GRCh38]
Chr12:48376969 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) single nucleotide variant Orofacial cleft 1 [RCV003320624]|Stickler syndrome type 1 [RCV000988827]|not provided [RCV000894899]|not specified [RCV000254258] Chr12:47985759 [GRCh38]
Chr12:48379542 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) single nucleotide variant Connective tissue disorder [RCV002277624]|Stickler syndrome type 1 [RCV000347942]|Type II Collagenopathies [RCV000292885]|not provided [RCV000710792]|not specified [RCV000242062] Chr12:47978294 [GRCh38]
Chr12:48372077 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2356-5C>T single nucleotide variant not provided [RCV001455777]|not specified [RCV000244531] Chr12:47981834 [GRCh38]
Chr12:48375617 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2094+7A>G single nucleotide variant Stickler syndrome type 1 [RCV000300057]|Type II Collagenopathies [RCV000354643]|not provided [RCV001521246]|not specified [RCV000247079] Chr12:47983086 [GRCh38]
Chr12:48376869 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) single nucleotide variant Stickler syndrome type 1 [RCV000323378]|Type II Collagenopathies [RCV000268382]|not provided [RCV001514376]|not specified [RCV000242215] Chr12:47974681 [GRCh38]
Chr12:48368464 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.4075-14C>G single nucleotide variant Stickler syndrome type 1 [RCV000326997]|Type II Collagenopathies [RCV000381592]|not provided [RCV001515343]|not specified [RCV000247424] Chr12:47974345 [GRCh38]
Chr12:48368128 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1888-24C>A single nucleotide variant not provided [RCV001658208]|not specified [RCV000249712] Chr12:47984164 [GRCh38]
Chr12:48377947 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) single nucleotide variant Connective tissue disorder [RCV000680490]|Inborn genetic diseases [RCV004609335]|not provided [RCV000724913]|not specified [RCV000252185] Chr12:47974311 [GRCh38]
Chr12:48368094 [GRCh37]
Chr12:12q13.11		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) single nucleotide variant Stickler syndrome type 1 [RCV000300435]|Type II Collagenopathies [RCV000261606]|not provided [RCV001513959]|not specified [RCV000247508] Chr12:47974193 [GRCh38]
Chr12:48367976 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) single nucleotide variant Stickler syndrome type 1 [RCV001114065]|Type II Collagenopathies [RCV001114064]|not provided [RCV000918676]|not specified [RCV000249904] Chr12:47978345 [GRCh38]
Chr12:48372128 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3328-20G>T single nucleotide variant not provided [RCV001517961]|not specified [RCV000245246] Chr12:47976939 [GRCh38]
Chr12:48370722 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1735-24T>C single nucleotide variant not provided [RCV001683028]|not specified [RCV000243008] Chr12:47985117 [GRCh38]
Chr12:48378900 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) single nucleotide variant Connective tissue disorder [RCV002277625]|Stickler syndrome type 1 [RCV000274081]|Type II Collagenopathies [RCV000371064]|not provided [RCV001519145]|not specified [RCV000252660] Chr12:47997874 [GRCh38]
Chr12:48391657 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.532-27T>A single nucleotide variant not provided [RCV001557733]|not specified [RCV000252788] Chr12:47996652 [GRCh38]
Chr12:48390435 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) single nucleotide variant Stickler syndrome type 1 [RCV000338563]|Type II Collagenopathies [RCV000374372]|not provided [RCV001512351]|not specified [RCV000250399] Chr12:47974758 [GRCh38]
Chr12:47974758..47974759 [GRCh38]
Chr12:48368541 [GRCh37]
Chr12:48368541..48368542 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2625+9C>T single nucleotide variant Connective tissue disorder [RCV002277623]|Stickler syndrome type 1 [RCV000304657]|Type II Collagenopathies [RCV000359644]|not provided [RCV001517711]|not specified [RCV000252913] Chr12:47980545 [GRCh38]
Chr12:48374328 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.654+15T>G single nucleotide variant Stickler syndrome type 1 [RCV000308476]|Type II Collagenopathies [RCV000342215]|not provided [RCV001521970]|not specified [RCV000248143] Chr12:47995860 [GRCh38]
Chr12:48389643 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) single nucleotide variant not provided [RCV000522118] Chr12:47997629 [GRCh38]
Chr12:48391412 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.610-34T>C single nucleotide variant not provided [RCV001696193]|not specified [RCV000243382] Chr12:47995953 [GRCh38]
Chr12:48389736 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) single nucleotide variant Achondrogenesis type II [RCV002494733]|Connective tissue disorder [RCV002277621]|Stickler syndrome type 1 [RCV000352106]|Type II Collagenopathies [RCV000404668]|not provided [RCV000957669]|not specified [RCV000245960] Chr12:47985948 [GRCh38]
Chr12:48379731 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) single nucleotide variant not provided [RCV000959925]|not specified [RCV000250715] Chr12:47985773 [GRCh38]
Chr12:48379556 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=) single nucleotide variant Stickler syndrome type 1 [RCV000282098]|Type II Collagenopathies [RCV000337083]|not provided [RCV003765810] Chr12:47985749 [GRCh38]
Chr12:48379532 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1680+8G>T single nucleotide variant COL2A1-related disorder [RCV004544530]|Stickler syndrome type 1 [RCV000376050]|Type II Collagenopathies [RCV000321992] Chr12:47985720 [GRCh38]
Chr12:48379503 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) single nucleotide variant Stickler syndrome type 1 [RCV000353706]|Type II Collagenopathies [RCV000301158]|not provided [RCV000893469]|not specified [RCV000424353] Chr12:47997630 [GRCh38]
Chr12:48391413 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) single nucleotide variant Connective tissue disorder [RCV002278392]|Stickler syndrome type 1 [RCV000301269]|Type II Collagenopathies [RCV000394297]|not provided [RCV000962253]|not specified [RCV000428707] Chr12:47980948 [GRCh38]
Chr12:48374731 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1077C>G (p.Val359=) single nucleotide variant Stickler syndrome type 1 [RCV000265928]|Type II Collagenopathies [RCV000321211]|not provided [RCV002056298] Chr12:47989273 [GRCh38]
Chr12:48383056 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) single nucleotide variant Connective tissue disorder [RCV002278394]|Stickler syndrome type 1 [RCV000283912]|Type II Collagenopathies [RCV000337148]|not provided [RCV000896145] Chr12:48004305 [GRCh38]
Chr12:48398088 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.2095-4G>A single nucleotide variant Achondrogenesis type II [RCV002502212]|Connective tissue disorder [RCV000659395]|Stickler syndrome type 1 [RCV000284682]|Type II Collagenopathies [RCV000405439]|not provided [RCV000906542]|not specified [RCV000435560] Chr12:47982950 [GRCh38]
Chr12:48376733 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.610-7G>A single nucleotide variant Connective tissue disorder [RCV002278393]|Stickler syndrome type 1 [RCV000403778]|Type II Collagenopathies [RCV000302564]|not provided [RCV000954140]|not specified [RCV000444838] Chr12:47995926 [GRCh38]
Chr12:48389709 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.85+10C>G single nucleotide variant Connective tissue disorder [RCV000680498]|Stickler syndrome type 1 [RCV000285542]|Type II Collagenopathies [RCV000382203]|not provided [RCV000919210]|not specified [RCV000611318] Chr12:48004227 [GRCh38]
Chr12:48398010 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1366-13C>A single nucleotide variant Connective tissue disorder [RCV000659392]|Stickler syndrome type 1 [RCV000269517]|Type II Collagenopathies [RCV000364110]|not provided [RCV001398631] Chr12:47986901 [GRCh38]
Chr12:48380684 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr) single nucleotide variant Stickler syndrome type 1 [RCV000343300]|Type II Collagenopathies [RCV000288414]|not provided [RCV002262963] Chr12:47982522 [GRCh38]
Chr12:48376305 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln) single nucleotide variant Stickler syndrome type 1 [RCV000289195]|Stickler syndrome, type I, nonsyndromic ocular [RCV004549667]|Type II Collagenopathies [RCV000406174]|not provided [RCV002056296] Chr12:47978673 [GRCh38]
Chr12:48372456 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.*4C>T single nucleotide variant Connective tissue disorder [RCV002278391]|Stickler syndrome type 1 [RCV000346811]|Type II Collagenopathies [RCV000289542]|not provided [RCV000991605]|not specified [RCV000425247] Chr12:47973403 [GRCh38]
Chr12:48367186 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=) single nucleotide variant Stickler Syndrome, Dominant [RCV000306779]|Type II Collagenopathies [RCV000270293]|not provided [RCV001697751] Chr12:47975999 [GRCh38]
Chr12:48369782 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile) single nucleotide variant Stickler syndrome type 1 [RCV000357617]|Type II Collagenopathies [RCV000272004]|not provided [RCV001850629] Chr12:47974289 [GRCh38]
Chr12:48368072 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) single nucleotide variant Stickler syndrome type 1 [RCV000273727]|Type II Collagenopathies [RCV000369857]|not provided [RCV002056297] Chr12:47984090 [GRCh38]
Chr12:48377873 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.*295C>T single nucleotide variant Stickler syndrome type 1 [RCV000274868]|Type II Collagenopathies [RCV000332272]|not provided [RCV001672470] Chr12:47973112 [GRCh38]
Chr12:48366895 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.532-3C>A single nucleotide variant Stickler syndrome type 1 [RCV000262332]|Type II Collagenopathies [RCV000359599]|not provided [RCV001531782] Chr12:47996628 [GRCh38]
Chr12:48390411 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.*158C>A single nucleotide variant Stickler syndrome type 1 [RCV000370531]|Type II Collagenopathies [RCV000260035] Chr12:47973249 [GRCh38]
Chr12:48367032 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.-119C>T single nucleotide variant Stickler syndrome type 1 [RCV000314719]|Type II Collagenopathies [RCV000367182]|not provided [RCV000834161] Chr12:48004440 [GRCh38]
Chr12:48398223 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) single nucleotide variant Stickler syndrome type 1 [RCV000354121]|Type II Collagenopathies [RCV000315540]|not provided [RCV001582948] Chr12:47974156 [GRCh38]
Chr12:48367939 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) single nucleotide variant Stickler syndrome type 1 [RCV000372933]|Type II Collagenopathies [RCV000278323]|not provided [RCV000421509]|not specified [RCV000601826] Chr12:47977614 [GRCh38]
Chr12:48371397 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu) single nucleotide variant Achondrogenesis type II [RCV000763850]|COL2A1-related disorder [RCV004537733]|Stickler syndrome type 1 [RCV000351659]|Type II Collagenopathies [RCV000296689]|not provided [RCV000976095] Chr12:47994437 [GRCh38]
Chr12:48388220 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu) single nucleotide variant Stickler syndrome type 1 [RCV000266329]|Type II Collagenopathies [RCV000361437]|not provided [RCV001850630] Chr12:47976066 [GRCh38]
Chr12:48369849 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1680+9C>A single nucleotide variant COL2A1-related disorder [RCV004544529]|Stickler syndrome type 1 [RCV000379960]|Type II Collagenopathies [RCV000266835] Chr12:47985719 [GRCh38]
Chr12:48379502 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.*28C>T single nucleotide variant Stickler syndrome type 1 [RCV000343084]|Type II Collagenopathies [RCV000381692]|not provided [RCV001555878] Chr12:47973379 [GRCh38]
Chr12:48367162 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2618G>A (p.Gly873Glu) single nucleotide variant not provided [RCV000271693] Chr12:47980561 [GRCh38]
Chr12:48374344 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1771G>C (p.Gly591Arg) single nucleotide variant not provided [RCV000271173] Chr12:47985057 [GRCh38]
Chr12:48378840 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2382del (p.Gly795fs) deletion not provided [RCV000270407] Chr12:47981803 [GRCh38]
Chr12:48375586 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser) single nucleotide variant See cases [RCV003155144]|not provided [RCV000274274] Chr12:47985947 [GRCh38]
Chr12:48379730 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) single nucleotide variant COL2A1-related disorder [RCV004535312]|Connective tissue disorder [RCV000659384]|Stickler syndrome type 1 [RCV001114415]|Type II Collagenopathies [RCV001114416]|not provided [RCV000725382] Chr12:48000016 [GRCh38]
Chr12:48393799 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3327+3G>A single nucleotide variant Stickler syndrome type 1 [RCV000321444]|Type II Collagenopathies [RCV000376139]|not provided [RCV000904844] Chr12:47977099 [GRCh38]
Chr12:48370882 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1340G>A (p.Gly447Asp) single nucleotide variant not provided [RCV000284452] Chr12:47987103 [GRCh38]
Chr12:48380886 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2825G>A (p.Gly942Asp) single nucleotide variant not provided [RCV000285557] Chr12:47978667 [GRCh38]
Chr12:48372450 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1636G>A (p.Gly546Ser) single nucleotide variant Achondrogenesis type II [RCV003987496]|Inborn genetic diseases [RCV000622408]|not provided [RCV000489443] Chr12:47985772 [GRCh38]
Chr12:48379555 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2536G>A (p.Gly846Arg) single nucleotide variant not provided [RCV000293167] Chr12:47980643 [GRCh38]
Chr12:48374426 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3382G>C (p.Gly1128Arg) single nucleotide variant not provided [RCV000292504] Chr12:47976865 [GRCh38]
Chr12:48370648 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1802T>C (p.Val601Ala) single nucleotide variant not provided [RCV000341487] Chr12:47985026 [GRCh38]
Chr12:48378809 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.*131C>T single nucleotide variant Stickler syndrome type 1 [RCV000282394]|Type II Collagenopathies [RCV000320892] Chr12:47973276 [GRCh38]
Chr12:48367059 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) single nucleotide variant not provided [RCV001855082]|not specified [RCV000345266] Chr12:47974788 [GRCh38]
Chr12:48368571 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.709-8G>T single nucleotide variant Stickler syndrome type 1 [RCV000348180]|Type II Collagenopathies [RCV000402925]|not provided [RCV000897306]|not specified [RCV000609771] Chr12:47995316 [GRCh38]
Chr12:48389099 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.2490_2491delinsAA (p.Gly831Arg) indel not provided [RCV000307527] Chr12:47980941..47980942 [GRCh38]
Chr12:48374724..48374725 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.4(COL2A1):c.2465delG (p.Gly822Valfs) deletion not provided [RCV000310911] Chr12:47980967 [GRCh38]
Chr12:48374750 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2788G>C (p.Gly930Arg) single nucleotide variant not provided [RCV000312846] Chr12:47978704 [GRCh38]
Chr12:48372487 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1681-6A>G single nucleotide variant not provided [RCV000279448] Chr12:47985593 [GRCh38]
Chr12:48379376 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2410-11C>T single nucleotide variant Stickler syndrome type 1 [RCV000356094]|Type II Collagenopathies [RCV000261465]|not provided [RCV001469152] Chr12:47981407 [GRCh38]
Chr12:48375190 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser) single nucleotide variant Connective tissue disorder [RCV000680493]|Stickler syndrome type 1 [RCV000397377]|Type II Collagenopathies [RCV000349799]|not provided [RCV000893653]|not specified [RCV000438916] Chr12:47975467 [GRCh38]
Chr12:48369250 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1816G>C (p.Gly606Arg) single nucleotide variant not provided [RCV000317249] Chr12:47985012 [GRCh38]
Chr12:48378795 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.708+8C>T single nucleotide variant Stickler syndrome type 1 [RCV001110298]|Type II Collagenopathies [RCV001110297]|not provided [RCV000957058]|not specified [RCV000313602] Chr12:47995702 [GRCh38]
Chr12:48389485 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) single nucleotide variant COL2A1-related disorder [RCV004535387]|not provided [RCV000349535] Chr12:47985085 [GRCh38]
Chr12:48378868 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1049C>T (p.Pro350Leu) single nucleotide variant Stickler syndrome type 1 [RCV000262592]|Type II Collagenopathies [RCV000375862] Chr12:47989780 [GRCh38]
Chr12:48383563 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp) single nucleotide variant Stickler syndrome type 1 [RCV000396722]|Type II Collagenopathies [RCV000350564]|not provided [RCV001344740] Chr12:47974142 [GRCh38]
Chr12:48367925 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1071del (p.Pro358fs) deletion not provided [RCV000330199] Chr12:47989279 [GRCh38]
Chr12:48383062 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1717G>C (p.Gly573Arg) single nucleotide variant not provided [RCV000334874] Chr12:47985551 [GRCh38]
Chr12:48379334 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp) single nucleotide variant Stickler syndrome type 1 [RCV002248504]|not provided [RCV000335506] Chr12:47980562 [GRCh38]
Chr12:48374345 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) single nucleotide variant COL2A1-related disorder [RCV004543038]|not provided [RCV000385344] Chr12:47975317 [GRCh38]
Chr12:48369100 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3244A>G (p.Thr1082Ala) single nucleotide variant Stickler syndrome type 1 [RCV000263200]|Type II Collagenopathies [RCV000318331]|not provided [RCV002520809] Chr12:47977349 [GRCh38]
Chr12:48371132 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1996-1G>A single nucleotide variant not provided [RCV000337191] Chr12:47983439 [GRCh38]
Chr12:48377222 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.*305G>A single nucleotide variant Stickler syndrome type 1 [RCV000309876]|Type II Collagenopathies [RCV000366892]|not provided [RCV003391102] Chr12:47973102 [GRCh38]
Chr12:48366885 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) single nucleotide variant COL2A1-related disorder [RCV004544531]|Stickler syndrome type 1 [RCV000383362]|Type II Collagenopathies [RCV000331550]|not provided [RCV000757109] Chr12:47999965 [GRCh38]
Chr12:48393748 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter) single nucleotide variant COL2A1-related disorder [RCV004734925]|Spondyloepiphyseal dysplasia congenita [RCV001849362]|not provided [RCV000357221] Chr12:47975986 [GRCh38]
Chr12:48369769 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) single nucleotide variant COL2A1-related disorder [RCV004542989]|not provided [RCV000287149] Chr12:47989761 [GRCh38]
Chr12:48383544 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.297del (p.Gln99fs) deletion not provided [RCV000358878] Chr12:47998427 [GRCh38]
Chr12:48392210 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) single nucleotide variant Stickler syndrome type 1 [RCV000312017]|Type II Collagenopathies [RCV000402928]|not provided [RCV001235510] Chr12:47973496 [GRCh38]
Chr12:48367279 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) single nucleotide variant Stickler syndrome type 1 [RCV000312447]|Type II Collagenopathies [RCV000349004]|not provided [RCV001764277] Chr12:47986365 [GRCh38]
Chr12:48380148 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) single nucleotide variant COL2A1-related disorder [RCV004544528]|Mendelian syndromes with cleft lip/palate [RCV003314586]|Stickler syndrome type 1 [RCV000387243]|Type II Collagenopathies [RCV000333414]|not provided [RCV001403750] Chr12:47978074 [GRCh38]
Chr12:48371857 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter) single nucleotide variant Stickler syndrome type 1 [RCV003380537]|not provided [RCV000579307] Chr12:47982109 [GRCh38]
Chr12:48375892 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.714dup (p.Met239fs) duplication not provided [RCV000377412] Chr12:47995302..47995303 [GRCh38]
Chr12:48389085..48389086 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2609G>T (p.Gly870Val) single nucleotide variant not provided [RCV000379858] Chr12:47980570 [GRCh38]
Chr12:48374353 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu) single nucleotide variant Spondyloperipheral dysplasia [RCV003152704]|Stickler syndrome type 1 [RCV000988818]|not provided [RCV000377732] Chr12:47977118 [GRCh38]
Chr12:48370901 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2600G>T (p.Gly867Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787094]|not provided [RCV000393415] Chr12:47980579 [GRCh38]
Chr12:48374362 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1023+1G>A single nucleotide variant not provided [RCV000393700] Chr12:47992877 [GRCh38]
Chr12:48386660 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3003+9G>A single nucleotide variant Stickler syndrome type 1 [RCV001112708]|Type II Collagenopathies [RCV001114063]|not provided [RCV000841352]|not specified [RCV000329102] Chr12:47978282 [GRCh38]
Chr12:48372065 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) single nucleotide variant Stickler syndrome type 1 [RCV000315203]|Type II Collagenopathies [RCV000397416]|not provided [RCV000897305]|not specified [RCV000616798] Chr12:47983388 [GRCh38]
Chr12:48377171 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter) single nucleotide variant not provided [RCV000405387] Chr12:47996613 [GRCh38]
Chr12:48390396 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) single nucleotide variant not provided [RCV000366271] Chr12:47975361 [GRCh38]
Chr12:48369144 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.*136C>T single nucleotide variant Stickler syndrome type 1 [RCV000374460]|Type II Collagenopathies [RCV000317625]|not provided [RCV001636878] Chr12:47973271 [GRCh38]
Chr12:48367054 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) single nucleotide variant COL2A1-related disorder [RCV004734972]|Stickler Syndrome, Dominant [RCV000372472]|Type II Collagenopathies [RCV000317732]|not provided [RCV001753770] Chr12:47992897 [GRCh38]
Chr12:48386680 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2679+6T>G single nucleotide variant not provided [RCV000298378] Chr12:47980003 [GRCh38]
Chr12:48373786 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1543C>T (p.Arg515Cys) single nucleotide variant not provided [RCV000332539] Chr12:47985950 [GRCh38]
Chr12:48379733 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3808C>T (p.Arg1270Cys) single nucleotide variant Stickler syndrome type 1 [RCV000334965]|Type II Collagenopathies [RCV000279838]|not provided [RCV001230106] Chr12:47975395 [GRCh38]
Chr12:48369178 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) single nucleotide variant not provided [RCV000369223]|not specified [RCV002229850] Chr12:47980009 [GRCh38]
Chr12:48373792 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2638G>A (p.Val880Met) single nucleotide variant Achondrogenesis type II [RCV001535711]|Inborn genetic diseases [RCV004021246]|not provided [RCV000407780] Chr12:47980050 [GRCh38]
Chr12:48373833 [GRCh37]
Chr12:12q13.11		 uncertain significance|not provided
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) single nucleotide variant Connective tissue disorder [RCV002279382]|not provided [RCV000962455]|not specified [RCV000597223] Chr12:47973544 [GRCh38]
Chr12:48367327 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.626G>A (p.Arg209Gln) single nucleotide variant Spondyloperipheral dysplasia [RCV002283954]|not provided [RCV003097658] Chr12:47995903 [GRCh38]
Chr12:48389686 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3328-13G>T single nucleotide variant not provided [RCV001545135] Chr12:47976932 [GRCh38]
Chr12:48370715 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1708G>C (p.Gly570Arg) single nucleotide variant not provided [RCV000487933] Chr12:47985560 [GRCh38]
Chr12:48379343 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) single nucleotide variant not provided [RCV001760761] Chr12:47974688 [GRCh38]
Chr12:48368471 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) single nucleotide variant COL2A1-related disorder [RCV004543335]|not provided [RCV000726818] Chr12:47989273 [GRCh38]
Chr12:48383056 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) single nucleotide variant not provided [RCV001269669] Chr12:47975970 [GRCh38]
Chr12:48369753 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1528-2del deletion Stickler syndrome type 1 [RCV003315133] Chr12:47985967 [GRCh38]
Chr12:48379750 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) single nucleotide variant Connective tissue disorder [RCV002279261]|Heart, malformation of [RCV002264702]|See cases [RCV003155213]|Stickler syndrome type 1 [RCV002286574]|not provided [RCV000489991] Chr12:47985811 [GRCh38]
Chr12:48379594 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1105G>C (p.Gly369Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV002470878]|not provided [RCV000490025] Chr12:47989245 [GRCh38]
Chr12:48383028 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.635dup (p.Gly213fs) duplication not provided [RCV001269769] Chr12:47995893..47995894 [GRCh38]
Chr12:48389676..48389677 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2763_2771del (p.Pro922_Gly924del) deletion not provided [RCV001269851] Chr12:47978721..47978729 [GRCh38]
Chr12:48372504..48372512 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.609+4del deletion Stickler syndrome type 1 [RCV000623544] Chr12:47996544 [GRCh38]
Chr12:48390327 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.*406A>G single nucleotide variant Stickler syndrome type 1 [RCV000394084]|Type II Collagenopathies [RCV000363275] Chr12:47973001 [GRCh38]
Chr12:48366784 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.4(COL2A1):c.-187G>A single nucleotide variant Stickler Syndrome, Dominant [RCV000351784]|Type II Collagenopathies [RCV000398340]|not provided [RCV000835298] Chr12:48004508 [GRCh38]
Chr12:48398291 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.*120C>G single nucleotide variant Stickler syndrome type 1 [RCV000285756]|Type II Collagenopathies [RCV000377787] Chr12:47973287 [GRCh38]
Chr12:48367070 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.12C>T (p.Leu4=) single nucleotide variant Stickler syndrome type 1 [RCV000406112]|Type II Collagenopathies [RCV000297282] Chr12:48004310 [GRCh38]
Chr12:48398093 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.-15G>T single nucleotide variant Stickler syndrome type 1 [RCV000354551]|Type II Collagenopathies [RCV000397426] Chr12:48004336 [GRCh38]
Chr12:48398119 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr) single nucleotide variant Stickler syndrome type 1 [RCV000310097]|Type II Collagenopathies [RCV000364949] Chr12:47975544 [GRCh38]
Chr12:48369327 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.310-17A>G single nucleotide variant not provided [RCV002532762]|not specified [RCV000600034] Chr12:47998218 [GRCh38]
Chr12:48392001 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) single nucleotide variant not provided [RCV000727249]|not specified [RCV004689805] Chr12:47982155 [GRCh38]
Chr12:48375938 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3591C>T (p.Gly1197=) single nucleotide variant not specified [RCV000606347] Chr12:47975969 [GRCh38]
Chr12:48369752 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) single nucleotide variant not provided [RCV000730088] Chr12:47995885 [GRCh38]
Chr12:48389668 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1681-1dup duplication not provided [RCV000598581] Chr12:47985585..47985586 [GRCh38]
Chr12:48379368..48379369 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.350G>C (p.Gly117Ala) single nucleotide variant not provided [RCV000522522] Chr12:47998057 [GRCh38]
Chr12:48391840 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4449G>A (p.Pro1483=) single nucleotide variant Connective tissue disorder [RCV002279432]|not provided [RCV000971587]|not specified [RCV000599850] Chr12:47973422 [GRCh38]
Chr12:48367205 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3624del (p.Gly1209fs) deletion COL2A1-related disorder [RCV004530726]|not provided [RCV000598983] Chr12:47975579 [GRCh38]
Chr12:48369362 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) single nucleotide variant not provided [RCV000593043] Chr12:47982898 [GRCh38]
Chr12:48376681 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) single nucleotide variant not provided [RCV000593064] Chr12:47975504 [GRCh38]
Chr12:48369287 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4328del (p.Gly1443fs) deletion not provided [RCV000597827] Chr12:47973543 [GRCh38]
Chr12:48367326 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.511_512delinsCT (p.Gly171Leu) indel COL2A1-related disorder [RCV004735657]|not provided [RCV001053960] Chr12:47997625..47997626 [GRCh38]
Chr12:48391408..48391409 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1299_1302del (p.Phe433fs) deletion not provided [RCV000599181] Chr12:47987141..47987144 [GRCh38]
Chr12:48380924..48380927 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1556del (p.Gly519fs) deletion not provided [RCV000599434] Chr12:47985937 [GRCh38]
Chr12:48379720 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1268G>A (p.Gly423Asp) single nucleotide variant not provided [RCV000521567] Chr12:47987175 [GRCh38]
Chr12:48380958 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2159G>A (p.Gly720Asp) single nucleotide variant not provided [RCV000593344] Chr12:47982882 [GRCh38]
Chr12:48376665 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2355+5G>A single nucleotide variant not provided [RCV000593415] Chr12:47982102 [GRCh38]
Chr12:48375885 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2490dup (p.Gly831fs) duplication not provided [RCV000599314] Chr12:47980941..47980942 [GRCh38]
Chr12:48374724..48374725 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1119_1122+16delinsACCCTGTTGC indel not provided [RCV000523723] Chr12:47989212..47989231 [GRCh38]
Chr12:48382995..48383014 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4195_4205delinsAGCATTGCC (p.Tyr1399fs) indel not provided [RCV000596206] Chr12:47974201..47974211 [GRCh38]
Chr12:48367984..48367994 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg) single nucleotide variant Inborn genetic diseases [RCV000623740] Chr12:47977328 [GRCh38]
Chr12:48371111 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4363C>T (p.Gln1455Ter) single nucleotide variant not provided [RCV000522004] Chr12:47973508 [GRCh38]
Chr12:48367291 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter) single nucleotide variant Stickler syndrome type 1 [RCV000988825]|not provided [RCV000522045] Chr12:47982940 [GRCh38]
Chr12:48376723 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1122+4C>T single nucleotide variant not provided [RCV002528534]|not specified [RCV000603033] Chr12:47989224 [GRCh38]
Chr12:48383007 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) single nucleotide variant not provided [RCV000727503] Chr12:47987656 [GRCh38]
Chr12:48381439 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) single nucleotide variant not provided [RCV000728409] Chr12:47974270 [GRCh38]
Chr12:48368053 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.310G>T (p.Gly104Ter) single nucleotide variant not provided [RCV000732165] Chr12:47998201 [GRCh38]
Chr12:48391984 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2620C>A (p.Pro874Thr) single nucleotide variant not provided [RCV000595545] Chr12:47980559 [GRCh38]
Chr12:48374342 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) single nucleotide variant not provided [RCV000731341] Chr12:47977371 [GRCh38]
Chr12:48371154 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) single nucleotide variant Short stature [RCV000415092]|not provided [RCV003144254] Chr12:47984112 [GRCh38]
Chr12:48377895 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2946C>T (p.Ile982=) single nucleotide variant not provided [RCV000416084] Chr12:47978348 [GRCh38]
Chr12:48372131 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1581+4_1581+7del deletion Kniest dysplasia [RCV000735695] Chr12:47985905..47985908 [GRCh38]
Chr12:48379688..48379691 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3472G>C (p.Gly1158Arg) single nucleotide variant Achondrogenesis type II [RCV001196300]|Narrow chest [RCV000415337] Chr12:47976531 [GRCh38]
Chr12:48370314 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.591A>T (p.Gly197=) single nucleotide variant not provided [RCV000733967] Chr12:47996566 [GRCh38]
Chr12:48390349 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3639C>T (p.Pro1213=) single nucleotide variant not provided [RCV001564722] Chr12:47975564 [GRCh38]
Chr12:48369347 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2219dup (p.Gly741fs) duplication not provided [RCV000734152] Chr12:47982583..47982584 [GRCh38]
Chr12:48376366..48376367 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1123-1G>A single nucleotide variant not provided [RCV000732636] Chr12:47987710 [GRCh38]
Chr12:48381493 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) single nucleotide variant COL2A1-related disorder [RCV004535857]|Stickler syndrome type 1 [RCV001110721]|Type II Collagenopathies [RCV001109934]|not provided [RCV001511230]|not specified [RCV000732662] Chr12:47976863 [GRCh38]
Chr12:48370646 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3887-1G>C single nucleotide variant not provided [RCV000732663] Chr12:47974863 [GRCh38]
Chr12:48368646 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4453T>C (p.Cys1485Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV000853298]|not provided [RCV000733654] Chr12:47973418 [GRCh38]
Chr12:48367201 [GRCh37]
Chr12:12q13.11		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter) single nucleotide variant Stickler syndrome type 1 [RCV000735218] Chr12:47983399 [GRCh38]
Chr12:48377182 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) deletion Achondrogenesis type II [RCV000505580]|not provided [RCV001857237] Chr12:47978042..47978059 [GRCh38]
Chr12:48371825..48371842 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3023G>T (p.Gly1008Val) single nucleotide variant Achondrogenesis type II [RCV001196261]|Short ribs [RCV000415214]|not provided [RCV002524665] Chr12:47978098 [GRCh38]
Chr12:48371881 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3156dup (p.Gly1053fs) duplication not provided [RCV000414107] Chr12:47977608..47977609 [GRCh38]
Chr12:48371391..48371392 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2407_2409del (p.Lys803del) deletion not provided [RCV000414483] Chr12:47981776..47981778 [GRCh38]
Chr12:48375559..48375561 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3490-18G>A single nucleotide variant not provided [RCV002060071]|not specified [RCV000423765] Chr12:47976088 [GRCh38]
Chr12:48369871 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.610-8C>T single nucleotide variant COL2A1-related disorder [RCV004539901]|not provided [RCV001704542] Chr12:47995927 [GRCh38]
Chr12:48389710 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3566C>A (p.Pro1189His) single nucleotide variant not provided [RCV000445267] Chr12:47975994 [GRCh38]
Chr12:48369777 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) single nucleotide variant Connective tissue disorder [RCV002278671]|Stickler syndrome type 1 [RCV001112707]|Type II Collagenopathies [RCV001112706]|not provided [RCV000962470]|not specified [RCV000434701] Chr12:47978019 [GRCh38]
Chr12:48371802 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) single nucleotide variant not provided [RCV000727461]|not specified [RCV000427970] Chr12:47974797 [GRCh38]
Chr12:48368580 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3969C>T (p.Cys1323=) single nucleotide variant COL2A1-related disorder [RCV004533110]|not provided [RCV000885891] Chr12:47974780 [GRCh38]
Chr12:48368563 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2355+15G>A single nucleotide variant not provided [RCV002525393]|not specified [RCV000439197] Chr12:47982092 [GRCh38]
Chr12:48375875 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1734+3A>C single nucleotide variant not provided [RCV000422960] Chr12:47985531 [GRCh38]
Chr12:48379314 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1680+1G>C single nucleotide variant not provided [RCV000426239] Chr12:47985727 [GRCh38]
Chr12:48379510 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) single nucleotide variant not provided [RCV000429122] Chr12:47975548 [GRCh38]
Chr12:48369331 [GRCh37]
Chr12:12q13.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1925G>T (p.Gly642Val) single nucleotide variant not provided [RCV000430070] Chr12:47984103 [GRCh38]
Chr12:48377886 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2552A>C (p.Gln851Pro) single nucleotide variant not provided [RCV000422721] Chr12:47980627 [GRCh38]
Chr12:48374410 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1787G>A (p.Arg596His) single nucleotide variant not provided [RCV000433038] Chr12:47985041 [GRCh38]
Chr12:48378824 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2655A>T (p.Gly885=) single nucleotide variant not provided [RCV001861561]|not specified [RCV000443965] Chr12:47980033 [GRCh38]
Chr12:48373816 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4265G>A (p.Arg1422Gln) single nucleotide variant Inborn genetic diseases [RCV002525526]|not provided [RCV000422902] Chr12:47974141 [GRCh38]
Chr12:48367924 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4228G>A (p.Ala1410Thr) single nucleotide variant not provided [RCV000436848] Chr12:47974178 [GRCh38]
Chr12:48367961 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3621C>T (p.Pro1207=) single nucleotide variant not provided [RCV003105906]|not specified [RCV000444627] Chr12:47975582 [GRCh38]
Chr12:48369365 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter) single nucleotide variant COL2A1-related disorder [RCV004533123]|Stickler syndrome type 1 [RCV001526694]|not provided [RCV000438911] Chr12:47978674 [GRCh38]
Chr12:48372457 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1221+20G>C single nucleotide variant not provided [RCV001522129]|not specified [RCV000427055] Chr12:47987591 [GRCh38]
Chr12:48381374 [GRCh37]
Chr12:12q13.11		 benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_001844.5(COL2A1):c.1452C>T (p.Pro484=) single nucleotide variant Stickler syndrome type 1 [RCV000456586]|not provided [RCV002522754] Chr12:47986411 [GRCh38]
Chr12:48380194 [GRCh37]
Chr12:12q13.11		 pathogenic|likely benign
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) single nucleotide variant COL2A1-related disorder [RCV004535536]|Hearing impairment [RCV001375461]|Stickler syndrome type 1 [RCV001110199]|Type II Collagenopathies [RCV001110200]|not provided [RCV000723634] Chr12:47987143 [GRCh38]
Chr12:48380926 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2260G>A (p.Glu754Lys) single nucleotide variant not provided [RCV000480768] Chr12:47982543 [GRCh38]
Chr12:48376326 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) single nucleotide variant not provided [RCV000483696] Chr12:48000072 [GRCh38]
Chr12:48393855 [GRCh37]
Chr12:12q13.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1330G>A (p.Gly444Ser) single nucleotide variant not provided [RCV000483756] Chr12:47987113 [GRCh38]
Chr12:48380896 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1709dup (p.Pro571fs) duplication not provided [RCV000484169] Chr12:47985558..47985559 [GRCh38]
Chr12:48379341..48379342 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.647G>A (p.Gly216Asp) single nucleotide variant not provided [RCV000484205] Chr12:47995882 [GRCh38]
Chr12:48389665 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3205G>C (p.Ala1069Pro) single nucleotide variant not specified [RCV000455425] Chr12:47977388 [GRCh38]
Chr12:48371171 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.310G>A (p.Gly104Arg) single nucleotide variant not provided [RCV000485870] Chr12:47998201 [GRCh38]
Chr12:48391984 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1266+5G>A single nucleotide variant not provided [RCV000478289] Chr12:47987264 [GRCh38]
Chr12:48381047 [GRCh37]
Chr12:12q13.11		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) single nucleotide variant not provided [RCV000485567] Chr12:47980941 [GRCh38]
Chr12:48374724 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4166_4168del (p.Ile1389del) deletion not provided [RCV000478499] Chr12:47974238..47974240 [GRCh38]
Chr12:48368021..48368023 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2047C>A (p.Gln683Lys) single nucleotide variant not provided [RCV000523152] Chr12:47983387 [GRCh38]
Chr12:48377170 [GRCh37]
Chr12:12q13.11		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001844.5(COL2A1):c.2814del (p.Gly939fs) deletion Achondrogenesis type II [RCV003330729]|Stickler syndrome type 1 [RCV003985087]|not provided [RCV000497484] Chr12:47978678 [GRCh38]
Chr12:48372461 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3286C>T (p.Pro1096Ser) single nucleotide variant not provided [RCV000497777] Chr12:47977143 [GRCh38]
Chr12:48370926 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1941+1G>A single nucleotide variant not provided [RCV000498015] Chr12:47984086 [GRCh38]
Chr12:48377869 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.86-5T>A single nucleotide variant not provided [RCV000498287] Chr12:48000130 [GRCh38]
Chr12:48393913 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.817-6T>G single nucleotide variant not provided [RCV000498505] Chr12:47994053 [GRCh38]
Chr12:48387836 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) single nucleotide variant COL2A1-related disorder [RCV004535640]|not provided [RCV000755494]|not specified [RCV000508472] Chr12:47978661 [GRCh38]
Chr12:48372444 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.25_26delinsTA (p.Thr9Ter) indel not provided [RCV000493711] Chr12:48004296..48004297 [GRCh38]
Chr12:48398079..48398080 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1958G>A (p.Arg653Gln) single nucleotide variant not provided [RCV000494109] Chr12:47983720 [GRCh38]
Chr12:48377503 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3626G>T (p.Gly1209Val) single nucleotide variant not provided [RCV000494173] Chr12:47975577 [GRCh38]
Chr12:48369360 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1367G>T (p.Gly456Val) single nucleotide variant not specified [RCV000506133] Chr12:47986887 [GRCh38]
Chr12:48380670 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp) single nucleotide variant Stickler syndrome type 1 [RCV003988849]|not specified [RCV000506248] Chr12:47982900 [GRCh38]
Chr12:48376683 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg) single nucleotide variant COL2A1-related disorder [RCV004527601]|Stickler syndrome type 1 [RCV001089571]|not provided [RCV000494511] Chr12:47995763 [GRCh38]
Chr12:48389546 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) single nucleotide variant COL2A1-related disorder [RCV004735582]|Kniest dysplasia [RCV001253129]|not provided [RCV001361814]|not specified [RCV000506554] Chr12:47986410 [GRCh38]
Chr12:48380193 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.655-1G>C single nucleotide variant not provided [RCV000578775] Chr12:47995764 [GRCh38]
Chr12:48389547 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3157G>A (p.Gly1053Arg) single nucleotide variant not specified [RCV000507036] Chr12:47977608 [GRCh38]
Chr12:48371391 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3139G>A (p.Gly1047Ser) single nucleotide variant Achondrogenesis type II [RCV001198649]|not specified [RCV000507539] Chr12:47977626 [GRCh38]
Chr12:48371409 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1537G>A (p.Gly513Ser) single nucleotide variant not provided [RCV001093221]|not specified [RCV000508041] Chr12:47985956 [GRCh38]
Chr12:48379739 [GRCh37]
Chr12:12q13.11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001844.5(COL2A1):c.4075-3C>G single nucleotide variant not provided [RCV000493322] Chr12:47974334 [GRCh38]
Chr12:48368117 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_001844.5(COL2A1):c.1061G>T (p.Gly354Val) single nucleotide variant Inborn genetic diseases [RCV000624737] Chr12:47989768 [GRCh38]
Chr12:48383551 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.870+11C>T single nucleotide variant Achondrogenesis type II [RCV002498936]|not provided [RCV002065395]|not specified [RCV000601627] Chr12:47993983 [GRCh38]
Chr12:48387766 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) single nucleotide variant COL2A1-related disorder [RCV004530768]|Stickler syndrome type 1 [RCV001110113]|Type II Collagenopathies [RCV001114152]|not provided [RCV000954867] Chr12:47982878 [GRCh38]
Chr12:48376661 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.870+12G>A single nucleotide variant not provided [RCV002063951]|not specified [RCV000607336] Chr12:47993982 [GRCh38]
Chr12:48387765 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu) single nucleotide variant Achondrogenesis type II [RCV000578377] Chr12:47983699 [GRCh38]
Chr12:48377482 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3435+18C>T single nucleotide variant not provided [RCV000594686] Chr12:47976794 [GRCh38]
Chr12:48370577 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1107T>A (p.Gly369=) single nucleotide variant not specified [RCV000605975] Chr12:47989243 [GRCh38]
Chr12:48383026 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp) single nucleotide variant Inborn genetic diseases [RCV000622409] Chr12:47978703 [GRCh38]
Chr12:48372486 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3655G>C (p.Asp1219His) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV000515452]|not provided [RCV001269915] Chr12:47975548 [GRCh38]
Chr12:48369331 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3806T>C (p.Ile1269Thr) single nucleotide variant Inborn genetic diseases [RCV003274704]|not provided [RCV003779912] Chr12:47975397 [GRCh38]
Chr12:48369180 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.816+13G>A single nucleotide variant not provided [RCV001505282]|not specified [RCV000601962] Chr12:47994411 [GRCh38]
Chr12:48388194 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3356del (p.Gly1119fs) deletion not provided [RCV000627444] Chr12:47976891 [GRCh38]
Chr12:48370674 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2895+20C>T single nucleotide variant not specified [RCV000609527] Chr12:47978577 [GRCh38]
Chr12:48372360 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.762+13G>A single nucleotide variant not provided [RCV001416447]|not specified [RCV000609561] Chr12:47995242 [GRCh38]
Chr12:48389025 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-10C>T single nucleotide variant not provided [RCV001482095] Chr12:47978768 [GRCh38]
Chr12:48372551 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-7C>A single nucleotide variant not provided [RCV001860326]|not specified [RCV000615099] Chr12:47994484 [GRCh38]
Chr12:48388267 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1023+3G>A single nucleotide variant Stickler syndrome type 1 [RCV001112956]|Type II Collagenopathies [RCV001112957]|not provided [RCV001697443] Chr12:47992875 [GRCh38]
Chr12:48386658 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.293-17T>C single nucleotide variant not provided [RCV002063949]|not specified [RCV000609714] Chr12:47998448 [GRCh38]
Chr12:48392231 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3735C>T (p.Ala1245=) single nucleotide variant not provided [RCV002063228]|not specified [RCV000615103] Chr12:47975468 [GRCh38]
Chr12:48369251 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter) single nucleotide variant Inborn genetic diseases [RCV000624506] Chr12:47975324 [GRCh38]
Chr12:48369107 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1388_1996-108del deletion Inborn genetic diseases [RCV000624699] Chr12:47983546..47986866 [GRCh38]
Chr12:48377329..48380649 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1365+12A>G single nucleotide variant not provided [RCV003669156]|not specified [RCV000612593] Chr12:47987066 [GRCh38]
Chr12:48380849 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.-41_-40delinsTT indel not specified [RCV000615833] Chr12:48004361..48004362 [GRCh38]
Chr12:48398144..48398145 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) single nucleotide variant Stickler syndrome type 1 [RCV001113973]|Type II Collagenopathies [RCV001109929]|not provided [RCV000923815]|not specified [RCV000600402] Chr12:47976026 [GRCh38]
Chr12:48369809 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.969+6T>C single nucleotide variant COL2A1-related disorder [RCV004530783]|Connective tissue disorder [RCV002279409]|not provided [RCV000940547] Chr12:47993452 [GRCh38]
Chr12:48387235 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2404G>A (p.Glu802Lys) single nucleotide variant not provided [RCV000523996] Chr12:47981781 [GRCh38]
Chr12:48375564 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3644G>C (p.Gly1215Ala) single nucleotide variant not provided [RCV000594099] Chr12:47975559 [GRCh38]
Chr12:48369342 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) single nucleotide variant COL2A1-related disorder [RCV004543416]|not provided [RCV000729977] Chr12:47973545 [GRCh38]
Chr12:48367328 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) single nucleotide variant not provided [RCV000594675] Chr12:47978351 [GRCh38]
Chr12:48372134 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) single nucleotide variant COL2A1-related disorder [RCV004544754]|Stickler syndrome type 1 [RCV001112704]|Type II Collagenopathies [RCV001112705]|not provided [RCV001481593]|not specified [RCV001729657] Chr12:47977645 [GRCh38]
Chr12:48371428 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.1941+14C>T single nucleotide variant not provided [RCV002064286]|not specified [RCV000610739] Chr12:47984073 [GRCh38]
Chr12:48377856 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3166-8C>T single nucleotide variant not provided [RCV001855242]|not specified [RCV000613581] Chr12:47977435 [GRCh38]
Chr12:48371218 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2160C>A (p.Gly720=) single nucleotide variant Achondrogenesis type II [RCV002491291]|Connective tissue disorder [RCV002279431]|not provided [RCV000971588]|not specified [RCV000613592] Chr12:47982881 [GRCh38]
Chr12:48376664 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.575del (p.Gly192fs) deletion Stickler syndrome type 1 [RCV003314404] Chr12:47996582 [GRCh38]
Chr12:48390365 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3077G>C (p.Gly1026Ala) single nucleotide variant Inborn genetic diseases [RCV000623306] Chr12:47978044 [GRCh38]
Chr12:48371827 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2712C>T (p.Arg904=) single nucleotide variant COL2A1-related disorder [RCV004533243]|not provided [RCV000940125] Chr12:47979532 [GRCh38]
Chr12:48373315 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=) single nucleotide variant COL2A1-related disorder [RCV004544744]|Stickler syndrome type 1 [RCV001109933]|Type II Collagenopathies [RCV001109932]|not provided [RCV001474367]|not specified [RCV000614112] Chr12:47976862 [GRCh38]
Chr12:48370645 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.4407C>T (p.Asp1469=) single nucleotide variant not provided [RCV001704770] Chr12:47973464 [GRCh38]
Chr12:48367247 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys) single nucleotide variant Inborn genetic diseases [RCV000623786] Chr12:47985965 [GRCh38]
Chr12:48379748 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2499G>A (p.Ala833=) single nucleotide variant not provided [RCV001707824] Chr12:47980933 [GRCh38]
Chr12:48374716 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.3490-19C>A single nucleotide variant Connective tissue disorder [RCV000659403]|not provided [RCV002065272]|not specified [RCV000611502] Chr12:47976089 [GRCh38]
Chr12:48369872 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.135T>C (p.Asp45=) single nucleotide variant not provided [RCV001429601] Chr12:48000076 [GRCh38]
Chr12:48393859 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3927C>T (p.Asp1309=) single nucleotide variant COL2A1-related disorder [RCV004735665]|not provided [RCV002065214]|not specified [RCV000608995] Chr12:47974822 [GRCh38]
Chr12:48368605 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2193+13G>A single nucleotide variant not provided [RCV002064024]|not specified [RCV000611789] Chr12:47982835 [GRCh38]
Chr12:48376618 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2301+5G>A single nucleotide variant not provided [RCV001698068] Chr12:47982497 [GRCh38]
Chr12:48376280 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.4194C>T (p.Ala1398=) single nucleotide variant not provided [RCV001698073] Chr12:47974212 [GRCh38]
Chr12:48367995 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.655-17C>T single nucleotide variant not provided [RCV001422745]|not specified [RCV000599775] Chr12:47995780 [GRCh38]
Chr12:48389563 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) single nucleotide variant Achondrogenesis type II [RCV002491292]|Connective tissue disorder [RCV002279438]|Stickler syndrome type 1 [RCV001112538]|Type II Collagenopathies [RCV001112537]|not provided [RCV000894564]|not specified [RCV000604855] Chr12:47973527 [GRCh38]
Chr12:48367310 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3598-19T>G single nucleotide variant not provided [RCV001518465]|not specified [RCV000603444] Chr12:47975624 [GRCh38]
Chr12:48369407 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) single nucleotide variant Achondrogenesis type II [RCV001822860]|not provided [RCV000593974] Chr12:47977616 [GRCh38]
Chr12:48371399 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3597+17del deletion not provided [RCV001493323]|not specified [RCV000600586] Chr12:47975946 [GRCh38]
Chr12:48369729 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-18C>T single nucleotide variant not provided [RCV002063240]|not specified [RCV000606346] Chr12:47977173 [GRCh38]
Chr12:48370956 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2484G>A (p.Gly828=) single nucleotide variant not provided [RCV003767487]|not specified [RCV000601546] Chr12:47980948 [GRCh38]
Chr12:48374731 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1648C>T (p.Arg550Cys) single nucleotide variant COL2A1-related disorder [RCV004527718]|not provided [RCV000657960] Chr12:47985760 [GRCh38]
Chr12:48379543 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3731del (p.Ala1244fs) deletion Stickler syndrome type 1 [RCV000659406] Chr12:47975472 [GRCh38]
Chr12:48369255 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2195G>A (p.Gly732Asp) single nucleotide variant not provided [RCV000658409] Chr12:47982608 [GRCh38]
Chr12:48376391 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2618G>T (p.Gly873Val) single nucleotide variant Achondrogenesis type II [RCV000660367] Chr12:47980561 [GRCh38]
Chr12:48374344 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.762+20C>A single nucleotide variant Connective tissue disorder [RCV000659387]|not provided [RCV001459333] Chr12:47995235 [GRCh38]
Chr12:48389018 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3166-1G>A single nucleotide variant Stickler syndrome type 1 [RCV000659402] Chr12:47977428 [GRCh38]
Chr12:48371211 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3203G>A (p.Gly1068Glu) single nucleotide variant not provided [RCV000658381] Chr12:47977390 [GRCh38]
Chr12:48371173 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3663del (p.Ala1222fs) deletion not provided [RCV001231080] Chr12:47975540 [GRCh38]
Chr12:48369323 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1420-7_1430del deletion Otospondylomegaepiphyseal dysplasia, autosomal recessive [RCV000679956] Chr12:47986433..47986450 [GRCh38]
Chr12:48380216..48380233 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2194-10C>T single nucleotide variant Connective tissue disorder [RCV000680496]|not provided [RCV001490732] Chr12:47982619 [GRCh38]
Chr12:48376402 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3756C>T (p.Asp1252=) single nucleotide variant Connective tissue disorder [RCV000680492]|not provided [RCV001432331] Chr12:47975447 [GRCh38]
Chr12:48369230 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3150C>T (p.Gly1050=) single nucleotide variant Connective tissue disorder [RCV000680494]|not provided [RCV001811438] Chr12:47977615 [GRCh38]
Chr12:48371398 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3914G>C (p.Gly1305Ala) single nucleotide variant Connective tissue disorder [RCV000680491]|not provided [RCV002544697] Chr12:47974835 [GRCh38]
Chr12:48368618 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1527+155T>C single nucleotide variant not provided [RCV000710789] Chr12:47986181 [GRCh38]
Chr12:48379964 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1527+158T>G single nucleotide variant not provided [RCV000710790] Chr12:47986178 [GRCh38]
Chr12:48379961 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser) single nucleotide variant not provided [RCV000710793] Chr12:47995898 [GRCh38]
Chr12:48389681 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1527+88T>C single nucleotide variant not provided [RCV000710791] Chr12:47986248 [GRCh38]
Chr12:48380031 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4318-91C>T single nucleotide variant not provided [RCV001638031]|not specified [RCV001000213] Chr12:47973644 [GRCh38]
Chr12:48367427 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln) single nucleotide variant Intellectual disability [RCV001251954]|not provided [RCV001309564] Chr12:48000053 [GRCh38]
Chr12:48393836 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001844.5(COL2A1):c.708+160G>C single nucleotide variant not provided [RCV001541504] Chr12:47995550 [GRCh38]
Chr12:48389333 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter) single nucleotide variant COL2A1-related disorder [RCV004528523]|Stickler syndrome type 1 [RCV001591924]|not provided [RCV003234087] Chr12:47974853 [GRCh38]
Chr12:48368636 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.816+8C>T single nucleotide variant not provided [RCV000979205] Chr12:47994416 [GRCh38]
Chr12:48388199 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2679+222C>A single nucleotide variant not provided [RCV001724945] Chr12:47979787 [GRCh38]
Chr12:48373570 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.897G>A (p.Lys299=) single nucleotide variant not provided [RCV000914060] Chr12:47993836 [GRCh38]
Chr12:48387619 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3508G>C (p.Gly1170Arg) single nucleotide variant not provided [RCV001596849] Chr12:47976052 [GRCh38]
Chr12:48369835 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV003389070]|not provided [RCV001812387] Chr12:47989777 [GRCh38]
Chr12:48383560 [GRCh37]
Chr12:12q13.11		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1907G>A (p.Gly636Asp) single nucleotide variant not provided [RCV001596857] Chr12:47984121 [GRCh38]
Chr12:48377904 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3436G>T (p.Gly1146Cys) single nucleotide variant not provided [RCV001596860] Chr12:47976567 [GRCh38]
Chr12:48370350 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2563G>C (p.Gly855Arg) single nucleotide variant not provided [RCV001596873] Chr12:47980616 [GRCh38]
Chr12:48374399 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4326_4330delinsTGTTTCT (p.Gly1443fs) indel not provided [RCV001597459] Chr12:47973541..47973545 [GRCh38]
Chr12:48367324..48367328 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2276G>T (p.Gly759Val) single nucleotide variant not provided [RCV001597463] Chr12:47982527 [GRCh38]
Chr12:48376310 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) single nucleotide variant COL2A1-related skeletal dysplasia [RCV000853367]|not specified [RCV001002357] Chr12:47984104 [GRCh38]
Chr12:48377887 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.970-205T>C single nucleotide variant not provided [RCV001667690] Chr12:47993136 [GRCh38]
Chr12:48386919 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.910G>T (p.Ala304Ser) single nucleotide variant not provided [RCV001546302] Chr12:47993823 [GRCh38]
Chr12:48387606 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3165+39G>C single nucleotide variant not provided [RCV001565720] Chr12:47977561 [GRCh38]
Chr12:48371344 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.609+115G>A single nucleotide variant not provided [RCV001535261] Chr12:47996433 [GRCh38]
Chr12:48390216 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-3C>T single nucleotide variant not provided [RCV001573692] Chr12:47982163 [GRCh38]
Chr12:48375946 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.580_581del (p.Ala194fs) microsatellite Stickler syndrome type 1 [RCV000761288] Chr12:47996576..47996577 [GRCh38]
Chr12:48390359..48390360 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1122+1G>C single nucleotide variant Kniest dysplasia [RCV000761423] Chr12:47989227 [GRCh38]
Chr12:48383010 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2083G>A (p.Val695Met) single nucleotide variant not provided [RCV000761824] Chr12:47983104 [GRCh38]
Chr12:48376887 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3817G>A (p.Glu1273Lys) single nucleotide variant Inborn genetic diseases [RCV003353131]|not provided [RCV001052839] Chr12:47975386 [GRCh38]
Chr12:48369169 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1030C>T (p.Arg344Ter) single nucleotide variant not provided [RCV000760401] Chr12:47989799 [GRCh38]
Chr12:48383582 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2566C>T (p.Gln856Ter) single nucleotide variant not provided [RCV000760572] Chr12:47980613 [GRCh38]
Chr12:48374396 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4008G>A (p.Trp1336Ter) single nucleotide variant not provided [RCV000760586] Chr12:47974741 [GRCh38]
Chr12:48368524 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1399C>T (p.Gln467Ter) single nucleotide variant not provided [RCV000760602] Chr12:47986855 [GRCh38]
Chr12:48380638 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) single nucleotide variant Inborn genetic diseases [RCV002550668]|not provided [RCV000994903] Chr12:47974851 [GRCh38]
Chr12:48368634 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1000C>T (p.Arg334Trp) single nucleotide variant not provided [RCV000994906] Chr12:47992901 [GRCh38]
Chr12:48386684 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) single nucleotide variant Stickler syndrome type 1 [RCV000988817]|not provided [RCV001858697] Chr12:47973528 [GRCh38]
Chr12:48367311 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2679+69dup duplication Stickler syndrome type 1 [RCV000988821]|not provided [RCV001712844] Chr12:47979935..47979936 [GRCh38]
Chr12:48373718..48373719 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2933del (p.Gly978fs) deletion not provided [RCV001060132] Chr12:47978361 [GRCh38]
Chr12:48372144 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2934del (p.Gln979fs) deletion not provided [RCV001060136] Chr12:47978360 [GRCh38]
Chr12:48372143 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4061A>T (p.Asn1354Ile) single nucleotide variant Inborn genetic diseases [RCV002570666]|not provided [RCV001544906] Chr12:47974688 [GRCh38]
Chr12:48368471 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.85C>T (p.Gln29Ter) single nucleotide variant not provided [RCV001090712] Chr12:48004237 [GRCh38]
Chr12:48398020 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) single nucleotide variant not provided [RCV001569921] Chr12:47974131 [GRCh38]
Chr12:48367914 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.472C>T (p.Pro158Ser) single nucleotide variant not provided [RCV001963976] Chr12:47997665 [GRCh38]
Chr12:48391448 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) single nucleotide variant COL2A1-related disorder [RCV004527771]|not provided [RCV000755954] Chr12:47980559 [GRCh38]
Chr12:48374342 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.968T>A (p.Met323Lys) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002466686]|not provided [RCV001566761] Chr12:47993459 [GRCh38]
Chr12:48387242 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3106C>G (p.Arg1036Gly) single nucleotide variant not provided [RCV001057583] Chr12:47978015 [GRCh38]
Chr12:48371798 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) single nucleotide variant not provided [RCV001575236] Chr12:47973495 [GRCh38]
Chr12:48367278 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2733+118C>T single nucleotide variant not provided [RCV001567901] Chr12:47979393 [GRCh38]
Chr12:48373176 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4229C>A (p.Ala1410Asp) single nucleotide variant not provided [RCV001596870] Chr12:47974177 [GRCh38]
Chr12:48367960 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2483G>C (p.Gly828Ala) single nucleotide variant not provided [RCV001597514] Chr12:47980949 [GRCh38]
Chr12:48374732 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1735-43G>A single nucleotide variant not provided [RCV001709307] Chr12:47985136 [GRCh38]
Chr12:48378919 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser) single nucleotide variant See cases [RCV003155420]|not provided [RCV001586411] Chr12:47978605 [GRCh38]
Chr12:48372388 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3111+9T>C single nucleotide variant not provided [RCV000927950] Chr12:47978001 [GRCh38]
Chr12:48371784 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2095-5C>T single nucleotide variant not provided [RCV000927951] Chr12:47982951 [GRCh38]
Chr12:48376734 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1011T>C (p.Pro337=) single nucleotide variant not provided [RCV000981803] Chr12:47992890 [GRCh38]
Chr12:48386673 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) single nucleotide variant Stickler syndrome type 1 [RCV001114068]|Type II Collagenopathies [RCV001110025]|not provided [RCV000928529] Chr12:47978638 [GRCh38]
Chr12:48372421 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2727C>T (p.Gly909=) single nucleotide variant not provided [RCV000943298] Chr12:47979517 [GRCh38]
Chr12:48373300 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003+10G>A single nucleotide variant not provided [RCV000925119] Chr12:47978281 [GRCh38]
Chr12:48372064 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) single nucleotide variant not provided [RCV000755953] Chr12:47987085 [GRCh38]
Chr12:48380868 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.763-19TC[5] microsatellite COL2A1-related disorder [RCV004530890]|not provided [RCV000879352] Chr12:47994485..47994486 [GRCh38]
Chr12:48388268..48388269 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1464A>G (p.Glu488=) single nucleotide variant not provided [RCV000881259] Chr12:47986399 [GRCh38]
Chr12:48380182 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2280C>T (p.Ile760=) single nucleotide variant not provided [RCV000976648] Chr12:47982523 [GRCh38]
Chr12:48376306 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4185C>T (p.Asn1395=) single nucleotide variant not provided [RCV000884740] Chr12:47974221 [GRCh38]
Chr12:48368004 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.662A>C (p.Gln221Pro) single nucleotide variant Inborn genetic diseases [RCV004031358]|not provided [RCV001044381] Chr12:47995756 [GRCh38]
Chr12:48389539 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2490del (p.Gly831fs) deletion not provided [RCV001050836] Chr12:47980942 [GRCh38]
Chr12:48374725 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) single nucleotide variant Inborn genetic diseases [RCV004030495]|not provided [RCV001063513] Chr12:47981817 [GRCh38]
Chr12:48375600 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.526G>A (p.Gly176Ser) single nucleotide variant not provided [RCV001039790] Chr12:47997611 [GRCh38]
Chr12:48391394 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.2679+6T>C single nucleotide variant not provided [RCV001045309] Chr12:47980003 [GRCh38]
Chr12:48373786 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1886G>A (p.Arg629Lys) single nucleotide variant not provided [RCV001061975] Chr12:47984547 [GRCh38]
Chr12:48378330 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3376G>A (p.Glu1126Lys) single nucleotide variant not provided [RCV001046892] Chr12:47976871 [GRCh38]
Chr12:48370654 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2193_2193+1inv inversion Retinal dystrophy [RCV001074046] Chr12:47982847..47982848 [GRCh38]
Chr12:48376630..48376631 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3446G>A (p.Gly1149Glu) single nucleotide variant not provided [RCV001813128] Chr12:47976557 [GRCh38]
Chr12:48370340 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1694G>A (p.Arg565His) single nucleotide variant not provided [RCV001048534] Chr12:47985574 [GRCh38]
Chr12:48379357 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1122+2T>A single nucleotide variant not provided [RCV001049188] Chr12:47989226 [GRCh38]
Chr12:48383009 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.816+6C>A single nucleotide variant not provided [RCV001043651] Chr12:47994418 [GRCh38]
Chr12:48388201 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr) single nucleotide variant Otospondylomegaepiphyseal dysplasia, autosomal dominant [RCV000856812] Chr12:47987703 [GRCh38]
Chr12:48381486 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1681-2_1681-1del deletion Stickler syndrome [RCV000826159] Chr12:47985588..47985589 [GRCh38]
Chr12:48379371..48379372 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.709-16C>A single nucleotide variant not provided [RCV000827201] Chr12:47995324 [GRCh38]
Chr12:48389107 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1680+2T>G single nucleotide variant Achondrogenesis type II [RCV000781309] Chr12:47985726 [GRCh38]
Chr12:48379509 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2024G>A (p.Gly675Asp) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV000770981]|not provided [RCV001387556] Chr12:47983410 [GRCh38]
Chr12:48377193 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.942G>A (p.Pro314=) single nucleotide variant COL2A1-related disorder [RCV004735875]|not provided [RCV000901270] Chr12:47993485 [GRCh38]
Chr12:48387268 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.279C>T (p.Leu93=) single nucleotide variant not provided [RCV000925312] Chr12:47999932 [GRCh38]
Chr12:48393715 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2415A>G (p.Glu805=) single nucleotide variant not provided [RCV000979681] Chr12:47981391 [GRCh38]
Chr12:48375174 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3887-10C>T single nucleotide variant not provided [RCV000938767] Chr12:47974872 [GRCh38]
Chr12:48368655 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2356-4G>T single nucleotide variant not provided [RCV000928530] Chr12:47981833 [GRCh38]
Chr12:48375616 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+10C>T single nucleotide variant not provided [RCV000980267] Chr12:47997596 [GRCh38]
Chr12:48391379 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2562C>T (p.Ala854=) single nucleotide variant not provided [RCV000922833] Chr12:47980617 [GRCh38]
Chr12:48374400 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1996-10C>T single nucleotide variant COL2A1-related disorder [RCV004533611]|not provided [RCV000944038]|not specified [RCV003396554] Chr12:47983448 [GRCh38]
Chr12:48377231 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu) single nucleotide variant Achondrogenesis type II [RCV000781310] Chr12:47986343 [GRCh38]
Chr12:48380126 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4074+50_4074+51del microsatellite not provided [RCV000834461] Chr12:47974624..47974625 [GRCh38]
Chr12:48368407..48368408 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.293-219T>C single nucleotide variant not provided [RCV000837408] Chr12:47998650 [GRCh38]
Chr12:47998650..47998651 [GRCh38]
Chr12:48392433 [GRCh37]
Chr12:48392433..48392434 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.292+176C>T single nucleotide variant not provided [RCV000837417] Chr12:47999743 [GRCh38]
Chr12:48393526 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.762+182T>G single nucleotide variant not provided [RCV000837418] Chr12:47995073 [GRCh38]
Chr12:48388856 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.762+208G>A single nucleotide variant not provided [RCV000837419] Chr12:47995047 [GRCh38]
Chr12:48388830 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.969+189T>G single nucleotide variant not provided [RCV000837420] Chr12:47993269 [GRCh38]
Chr12:48387052 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.969+216A>T single nucleotide variant not provided [RCV000837421] Chr12:47993242 [GRCh38]
Chr12:48387025 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1024-226C>T single nucleotide variant not provided [RCV000837433] Chr12:47990031 [GRCh38]
Chr12:48383814 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1024-209C>A single nucleotide variant not provided [RCV000837434] Chr12:47990014 [GRCh38]
Chr12:48383797 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2626-183A>G single nucleotide variant not provided [RCV000837476] Chr12:47980245 [GRCh38]
Chr12:48374028 [GRCh37]
Chr12:12q13.11		 benign
NC_000012.12:g.47978282C>T single nucleotide variant not provided [RCV000841352] Chr12:48372065 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter) single nucleotide variant Otospondylomegaepiphyseal dysplasia, autosomal dominant [RCV000856777] Chr12:47975489 [GRCh38]
Chr12:48369272 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1942-134A>T single nucleotide variant not provided [RCV000839489] Chr12:47983870 [GRCh38]
Chr12:48377653 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+295G>A single nucleotide variant not provided [RCV000827922] Chr12:47997311 [GRCh38]
Chr12:48391094 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1314C>A (p.Gly438=) single nucleotide variant not provided [RCV000828042] Chr12:47987129 [GRCh38]
Chr12:48380912 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.4(COL2A1):c.-246G>T single nucleotide variant not provided [RCV000834160] Chr12:48004567 [GRCh38]
Chr12:48398350 [GRCh37]
Chr12:12q13.11		 benign
NC_000012.12:g.47986248A>G single nucleotide variant not provided [RCV000834162] Chr12:48380031 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1528-108A>G single nucleotide variant not provided [RCV000834163] Chr12:47986073 [GRCh38]
Chr12:48379856 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1528-62C>T single nucleotide variant not provided [RCV000834164] Chr12:47986027 [GRCh38]
Chr12:48379810 [GRCh37]
Chr12:12q13.11		 benign
NC_000012.12:g.47984187A>G single nucleotide variant not provided [RCV000834165] Chr12:48377970 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2193+101G>T single nucleotide variant not provided [RCV000834166] Chr12:47982747 [GRCh38]
Chr12:48376530 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2194-111G>A single nucleotide variant not provided [RCV000834167] Chr12:47982720 [GRCh38]
Chr12:48376503 [GRCh37]
Chr12:12q13.11		 benign
NC_000012.12:g.47982192A>G single nucleotide variant not provided [RCV000834168] Chr12:48375975 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2302-22G>A single nucleotide variant not provided [RCV000834169] Chr12:47982182 [GRCh38]
Chr12:48375965 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2409+84G>C single nucleotide variant not provided [RCV000834170] Chr12:47981692 [GRCh38]
Chr12:47981692..47981693 [GRCh38]
Chr12:48375475 [GRCh37]
Chr12:48375475..48375476 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.762+42del deletion not provided [RCV000834358] Chr12:47995213 [GRCh38]
Chr12:48388996 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3886+111T>G single nucleotide variant not provided [RCV000834360] Chr12:47975206 [GRCh38]
Chr12:48368989 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2193+57C>T single nucleotide variant not provided [RCV000834455] Chr12:47982791 [GRCh38]
Chr12:48376574 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2355+68G>A single nucleotide variant not provided [RCV000834456] Chr12:47982039 [GRCh38]
Chr12:48375822 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2409+108C>T single nucleotide variant not provided [RCV000834457] Chr12:47981668 [GRCh38]
Chr12:48375451 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2517+82A>G single nucleotide variant not provided [RCV000834458] Chr12:47980833 [GRCh38]
Chr12:48374616 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3273+58T>C single nucleotide variant not provided [RCV000834459] Chr12:47977262 [GRCh38]
Chr12:48371045 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3436-73T>C single nucleotide variant not provided [RCV000836163] Chr12:47976640 [GRCh38]
Chr12:48370423 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3597+62C>T single nucleotide variant not provided [RCV000836164]|not specified [RCV001000261] Chr12:47975901 [GRCh38]
Chr12:48369684 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2518-91C>T single nucleotide variant not provided [RCV000836167] Chr12:47980752 [GRCh38]
Chr12:48374535 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2734-269G>A single nucleotide variant not provided [RCV000828844] Chr12:47979027 [GRCh38]
Chr12:48372810 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.719G>A (p.Gly240Asp) single nucleotide variant not provided [RCV000821665] Chr12:47995298 [GRCh38]
Chr12:48389081 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1527+44C>T single nucleotide variant not provided [RCV000838617] Chr12:47986292 [GRCh38]
Chr12:48380075 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser) single nucleotide variant Stickler syndrome type 1 [RCV000988826] Chr12:47983709 [GRCh38]
Chr12:48377492 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.85+96C>G single nucleotide variant not provided [RCV000835304] Chr12:48004141 [GRCh38]
Chr12:48397924 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3327+15G>A single nucleotide variant not provided [RCV000827163] Chr12:47977087 [GRCh38]
Chr12:48370870 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2679+30C>T single nucleotide variant not provided [RCV000839094] Chr12:47979979 [GRCh38]
Chr12:48373762 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2680-164A>G single nucleotide variant not provided [RCV000839095] Chr12:47979728 [GRCh38]
Chr12:48373511 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2680-132A>C single nucleotide variant not provided [RCV000839096] Chr12:47979696 [GRCh38]
Chr12:48373479 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+193C>T single nucleotide variant not provided [RCV000839097] Chr12:47979318 [GRCh38]
Chr12:48373101 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+197A>C single nucleotide variant not provided [RCV000839098] Chr12:47979314 [GRCh38]
Chr12:48373097 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+209C>T single nucleotide variant not provided [RCV000839099] Chr12:47979302 [GRCh38]
Chr12:48373085 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+220T>C single nucleotide variant not provided [RCV000839100] Chr12:47979291 [GRCh38]
Chr12:48373074 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+239G>C single nucleotide variant not provided [RCV000839101] Chr12:47979272 [GRCh38]
Chr12:48373055 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2734-199T>A single nucleotide variant not provided [RCV000839102] Chr12:47978957 [GRCh38]
Chr12:48372740 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3489+221_3489+222insGACCCCTGG insertion not provided [RCV000839103] Chr12:47976292..47976293 [GRCh38]
Chr12:48370075..48370076 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3490-152A>T single nucleotide variant not provided [RCV000839104] Chr12:47976222 [GRCh38]
Chr12:48370005 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2475A>G (p.Gly825=) single nucleotide variant not provided [RCV000840878] Chr12:47980957 [GRCh38]
Chr12:48374740 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.292+258del deletion not provided [RCV000831641] Chr12:47999661 [GRCh38]
Chr12:48393444 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.531+334C>T single nucleotide variant not provided [RCV000827664] Chr12:47997272 [GRCh38]
Chr12:48391055 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3642del (p.Gly1215fs) deletion Stickler syndrome type 1 [RCV000787022]|not provided [RCV002535748] Chr12:47975561 [GRCh38]
Chr12:48369344 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2464-75A>C single nucleotide variant not provided [RCV000834183] Chr12:47981043 [GRCh38]
Chr12:48374826 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2518-69T>C single nucleotide variant not provided [RCV000834184] Chr12:47980730 [GRCh38]
Chr12:48374513 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4254C>G (p.Asp1418Glu) single nucleotide variant not provided [RCV000788646] Chr12:47974152 [GRCh38]
Chr12:48367935 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1023+84C>A single nucleotide variant not provided [RCV000834310] Chr12:47992794 [GRCh38]
Chr12:48386577 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1023+108T>C single nucleotide variant not provided [RCV000834311] Chr12:47992770 [GRCh38]
Chr12:48386553 [GRCh37]
Chr12:12q13.11		 benign
NC_000012.12:g.47983186C>A single nucleotide variant not provided [RCV000834312] Chr12:48376969 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2301+72C>T single nucleotide variant not provided [RCV000834313] Chr12:47982430 [GRCh38]
Chr12:48376213 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+113T>C single nucleotide variant not provided [RCV000834314] Chr12:47979398 [GRCh38]
Chr12:48373181 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3886+75A>C single nucleotide variant not provided [RCV000834460] Chr12:47975242 [GRCh38]
Chr12:48369025 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2356-111G>A single nucleotide variant not provided [RCV000834558] Chr12:47981940 [GRCh38]
Chr12:48375723 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3454G>C (p.Gly1152Arg) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV000824844] Chr12:47976549 [GRCh38]
Chr12:48370332 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV000789039] Chr12:47977629 [GRCh38]
Chr12:48371412 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2961G>A (p.Gly987=) single nucleotide variant COL2A1-related disorder [RCV004540143]|not provided [RCV000842162] Chr12:47978333 [GRCh38]
Chr12:48372116 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-248G>A single nucleotide variant not provided [RCV000837478] Chr12:47979006 [GRCh38]
Chr12:48372789 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4074+162G>A single nucleotide variant not provided [RCV000837479] Chr12:47974513 [GRCh38]
Chr12:48368296 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.292+258G>T single nucleotide variant not provided [RCV000829881] Chr12:47999661 [GRCh38]
Chr12:48393444 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.292+258G>A single nucleotide variant not provided [RCV000830187] Chr12:47999661 [GRCh38]
Chr12:48393444 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2005G>A (p.Gly669Ser) single nucleotide variant COL2A1-related disorder [RCV004528383]|Connective tissue disorder [RCV002276622]|Spondyloepiphyseal dysplasia congenita [RCV001787123]|not provided [RCV002555977] Chr12:47983429 [GRCh38]
Chr12:48377212 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2679+1G>A single nucleotide variant Stickler syndrome type 1 [RCV000988822] Chr12:47980008 [GRCh38]
Chr12:48373791 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter) single nucleotide variant Stickler syndrome type 1 [RCV000988823] Chr12:47980583 [GRCh38]
Chr12:48374366 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.85+77G>C single nucleotide variant not provided [RCV000836144] Chr12:48004160 [GRCh38]
Chr12:48397943 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2626-94C>T single nucleotide variant not provided [RCV000836156] Chr12:47980156 [GRCh38]
Chr12:48373939 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3111+26G>A single nucleotide variant not provided [RCV000836157] Chr12:47977984 [GRCh38]
Chr12:48371767 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3111+73A>C single nucleotide variant not provided [RCV000836158] Chr12:47977937 [GRCh38]
Chr12:48371720 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3111+114G>A single nucleotide variant not provided [RCV000836159] Chr12:47977896 [GRCh38]
Chr12:48371679 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3165+43A>G single nucleotide variant not provided [RCV000836160] Chr12:47977557 [GRCh38]
Chr12:48371340 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3274-73A>G single nucleotide variant not provided [RCV000836161] Chr12:47977228 [GRCh38]
Chr12:48371011 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3328-89T>G single nucleotide variant not provided [RCV000836162] Chr12:47977008 [GRCh38]
Chr12:48370791 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.609+251A>G single nucleotide variant not provided [RCV000843499] Chr12:47996297 [GRCh38]
Chr12:48390080 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1123-264C>G single nucleotide variant not provided [RCV000843504] Chr12:47987973 [GRCh38]
Chr12:48381756 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2409+121dup duplication not provided [RCV000837435] Chr12:47981654..47981655 [GRCh38]
Chr12:48375437..48375438 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3886+207G>A single nucleotide variant not provided [RCV000837436] Chr12:47975110 [GRCh38]
Chr12:48368893 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2302-133C>T single nucleotide variant not provided [RCV000837475] Chr12:47982293 [GRCh38]
Chr12:48376076 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2626-166T>C single nucleotide variant not provided [RCV000837477] Chr12:47980228 [GRCh38]
Chr12:47980228..47980229 [GRCh38]
Chr12:48374011 [GRCh37]
Chr12:48374011..48374012 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4318-130del deletion not provided [RCV000837480] Chr12:47973683 [GRCh38]
Chr12:48367466 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3003+22C>G single nucleotide variant not provided [RCV000834472] Chr12:47978269 [GRCh38]
Chr12:48372052 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.734C>T (p.Pro245Leu) single nucleotide variant Achondrogenesis type II [RCV000844889] Chr12:47995283 [GRCh38]
Chr12:48389066 [GRCh37]
Chr12:12q13.11		 likely benign
NC_000012.12:g.48004508C>T single nucleotide variant not provided [RCV000835298] Chr12:48398291 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.816+57C>T single nucleotide variant not provided [RCV000839047] Chr12:47994367 [GRCh38]
Chr12:48388150 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2734-45_2734-43del deletion not provided [RCV000834477] Chr12:47978801..47978803 [GRCh38]
Chr12:48372584..48372586 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.871-18T>C single nucleotide variant not provided [RCV000842301] Chr12:47993880 [GRCh38]
Chr12:48387663 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1267-20C>T single nucleotide variant not provided [RCV000842311] Chr12:47987196 [GRCh38]
Chr12:48380979 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+262G>A single nucleotide variant not provided [RCV000827916] Chr12:47997344 [GRCh38]
Chr12:48391127 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1832A>G (p.Asn611Ser) single nucleotide variant not provided [RCV000788595] Chr12:47984996 [GRCh38]
Chr12:48378779 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001194465] Chr12:47996616 [GRCh38]
Chr12:48390399 [GRCh37]
Chr12:12q13.11		 pathogenic|not provided
NM_001844.5(COL2A1):c.4225A>G (p.Lys1409Glu) single nucleotide variant not provided [RCV001060292] Chr12:47974181 [GRCh38]
Chr12:48367964 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser) single nucleotide variant COL2A1-related disorder [RCV004734019]|Connective tissue disorder [RCV002276626]|Stickler syndrome type 1 [RCV001113969]|Type II Collagenopathies [RCV001113970]|not provided [RCV001320848] Chr12:47975490 [GRCh38]
Chr12:48369273 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.491dup (p.Gly165fs) duplication Achondrogenesis type II [RCV002265925]|Stickler syndrome type 1 [RCV003151262]|not provided [RCV001008464] Chr12:47997645..47997646 [GRCh38]
Chr12:48391428..48391429 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4274G>C (p.Gly1425Ala) single nucleotide variant not provided [RCV001062149] Chr12:47974132 [GRCh38]
Chr12:48367915 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4041C>A (p.Ile1347=) single nucleotide variant not provided [RCV000915307] Chr12:47974708 [GRCh38]
Chr12:48368491 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.491del (p.Pro164fs) deletion Stickler syndrome type 1 [RCV000850370]|not provided [RCV001056922] Chr12:47997646 [GRCh38]
Chr12:48391429 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser) single nucleotide variant Stickler syndrome type 1 [RCV000988820]|not provided [RCV003558623] Chr12:47978108 [GRCh38]
Chr12:48371891 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV001029739] Chr12:47975997 [GRCh38]
Chr12:48369780 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.*331G>A single nucleotide variant Stickler syndrome type 1 [RCV001113788]|Type II Collagenopathies [RCV001113787] Chr12:47973076 [GRCh38]
Chr12:48366859 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3375C>T (p.Gly1125=) single nucleotide variant not provided [RCV000994905] Chr12:47976872 [GRCh38]
Chr12:48370655 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.519del (p.Gly174fs) deletion not provided [RCV000994907] Chr12:47997618 [GRCh38]
Chr12:48391401 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) single nucleotide variant Stickler syndrome type 1 [RCV001112534]|Type II Collagenopathies [RCV001110554]|not provided [RCV001772326] Chr12:47973423 [GRCh38]
Chr12:48367206 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4317+9G>C single nucleotide variant Stickler syndrome type 1 [RCV001113866]|Type II Collagenopathies [RCV001112539] Chr12:47974080 [GRCh38]
Chr12:48367863 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1525_1527delinsTGTGACC (p.Arg509fs) indel not provided [RCV001009016] Chr12:47986336..47986338 [GRCh38]
Chr12:48380119..48380121 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4409T>C (p.Ile1470Thr) single nucleotide variant not provided [RCV001213670] Chr12:47973462 [GRCh38]
Chr12:48367245 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.511G>C (p.Gly171Arg) single nucleotide variant Stickler syndrome type 1 [RCV001113033]|Type II Collagenopathies [RCV001113034] Chr12:47997626 [GRCh38]
Chr12:48391409 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.501C>A (p.Pro167=) single nucleotide variant not provided [RCV001171887] Chr12:47997636 [GRCh38]
Chr12:48391419 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1934G>A (p.Gly645Asp) single nucleotide variant not provided [RCV001571337] Chr12:47984094 [GRCh38]
Chr12:48377877 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2594del (p.Pro865fs) deletion Stickler syndrome type 1 [RCV001564051] Chr12:47980585 [GRCh38]
Chr12:48374368 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1221+5G>C single nucleotide variant not provided [RCV001231442] Chr12:47987606 [GRCh38]
Chr12:48381389 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) single nucleotide variant Inborn genetic diseases [RCV003365428]|Spondyloperipheral dysplasia [RCV002466684]|not provided [RCV001544991] Chr12:47997691 [GRCh38]
Chr12:48391474 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3381_3382del (p.Gly1128fs) microsatellite not provided [RCV001008255] Chr12:47976865..47976866 [GRCh38]
Chr12:48370648..48370649 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) single nucleotide variant not provided [RCV001226631] Chr12:47978392 [GRCh38]
Chr12:48372175 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2356-16_2359del deletion not provided [RCV001234676] Chr12:47981826..47981845 [GRCh38]
Chr12:48375609..48375628 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) single nucleotide variant COL2A1-related disorder [RCV004734057]|not provided [RCV001223432] Chr12:47986358 [GRCh38]
Chr12:48380141 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3137del (p.Pro1046fs) deletion not provided [RCV001237729] Chr12:47977628 [GRCh38]
Chr12:48371411 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.11T>C (p.Leu4Pro) single nucleotide variant not provided [RCV001240505] Chr12:48004311 [GRCh38]
Chr12:48398094 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.247G>A (p.Gly83Arg) single nucleotide variant not provided [RCV001238519] Chr12:47999964 [GRCh38]
Chr12:48393747 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.410G>A (p.Arg137His) single nucleotide variant COL2A1-related disorder [RCV004734056]|Inborn genetic diseases [RCV002563023]|not provided [RCV001221874] Chr12:47997890 [GRCh38]
Chr12:48391673 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2678dup (p.Ala895fs) duplication Stickler syndrome type 1 [RCV001263467]|not provided [RCV001241102] Chr12:47980009..47980010 [GRCh38]
Chr12:48373792..48373793 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1746_1749dup (p.Asp584Ter) duplication not provided [RCV001226104] Chr12:47985078..47985079 [GRCh38]
Chr12:48378861..48378862 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2509G>C (p.Gly837Arg) single nucleotide variant not provided [RCV001247185] Chr12:47980923 [GRCh38]
Chr12:48374706 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.578G>A (p.Gly193Asp) single nucleotide variant COL2A1-related disorder [RCV004734052]|Hereditary breast ovarian cancer syndrome [RCV001374535]|not provided [RCV001212399] Chr12:47996579 [GRCh38]
Chr12:48390362 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2111dup (p.Gly705fs) duplication Achondrogenesis type II [RCV001197392] Chr12:47982929..47982930 [GRCh38]
Chr12:48376712..48376713 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1187G>A (p.Gly396Asp) single nucleotide variant COL2A1-related phenotype [RCV000985043] Chr12:47987645 [GRCh38]
Chr12:48381428 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4011G>A (p.Trp1337Ter) single nucleotide variant not provided [RCV003318068] Chr12:47974738 [GRCh38]
Chr12:48368521 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4397C>T (p.Ala1466Val) single nucleotide variant not provided [RCV003312228] Chr12:47973474 [GRCh38]
Chr12:48367257 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2194-55T>C single nucleotide variant Stickler syndrome type 1 [RCV000988824]|not provided [RCV001644872] Chr12:47982664 [GRCh38]
Chr12:48376447 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3084G>T (p.Thr1028=) single nucleotide variant not provided [RCV000991607] Chr12:47978037 [GRCh38]
Chr12:48371820 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3598-1G>A single nucleotide variant Stickler syndrome type 1 [RCV000995717]|not provided [RCV003708556] Chr12:47975606 [GRCh38]
Chr12:48369389 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) single nucleotide variant Inborn genetic diseases [RCV002555076]|Intellectual disability [RCV001251955]|Stickler syndrome type 1 [RCV001110723]|Type II Collagenopathies [RCV001110722]|not provided [RCV002556166] Chr12:47977121 [GRCh38]
Chr12:48370904 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3719G>A (p.Arg1240Gln) single nucleotide variant Inborn genetic diseases [RCV002563735]|not provided [RCV001230216] Chr12:47975484 [GRCh38]
Chr12:48369267 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3690G>C (p.Glu1230Asp) single nucleotide variant Achondrogenesis type II [RCV001195744] Chr12:47975513 [GRCh38]
Chr12:48369296 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2355+1G>A single nucleotide variant Achondrogenesis type II [RCV001199202]|not provided [RCV001876285] Chr12:47982106 [GRCh38]
Chr12:48375889 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1596G>T (p.Glu532Asp) single nucleotide variant not provided [RCV001053176] Chr12:47985812 [GRCh38]
Chr12:48379595 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.40A>T (p.Thr14Ser) single nucleotide variant not provided [RCV001247688] Chr12:48004282 [GRCh38]
Chr12:48398065 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2198C>A (p.Ala733Glu) single nucleotide variant not provided [RCV001246957] Chr12:47982605 [GRCh38]
Chr12:48376388 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr) single nucleotide variant Stickler syndrome type 1 [RCV001109854]|Type II Collagenopathies [RCV001109855]|not provided [RCV001245820] Chr12:47974313 [GRCh38]
Chr12:48368096 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) single nucleotide variant Stickler syndrome type 1 [RCV001110026]|Type II Collagenopathies [RCV001110027]|not provided [RCV001413346] Chr12:47978687 [GRCh38]
Chr12:48372470 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) single nucleotide variant Stickler syndrome type 1 [RCV001114316]|Type II Collagenopathies [RCV001114315]|not provided [RCV003679035] Chr12:47994462 [GRCh38]
Chr12:48388245 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3363dup (p.Gly1122fs) duplication Stickler syndrome type 1 [RCV003236625] Chr12:47976883..47976884 [GRCh38]
Chr12:48370666..48370667 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2071G>T (p.Ala691Ser) single nucleotide variant not provided [RCV003233224] Chr12:47983116 [GRCh38]
Chr12:48376899 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4075-57C>A single nucleotide variant not provided [RCV001576251] Chr12:47974388 [GRCh38]
Chr12:48368171 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1679G>C (p.Arg560Pro) single nucleotide variant Achondrogenesis type II [RCV003325999]|not provided [RCV001568822] Chr12:47985729 [GRCh38]
Chr12:48379512 [GRCh37]
Chr12:12q13.11		 uncertain significance|not provided
NM_001844.5(COL2A1):c.1092T>C (p.Gly364=) single nucleotide variant not provided [RCV001568945] Chr12:47989258 [GRCh38]
Chr12:48383041 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1024-264G>A single nucleotide variant not provided [RCV001565990] Chr12:47990069 [GRCh38]
Chr12:48383852 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-50C>T single nucleotide variant not provided [RCV001547173] Chr12:47977205 [GRCh38]
Chr12:48370988 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1586C>A (p.Ala529Asp) single nucleotide variant COL2A1-related disorder [RCV004536176]|not provided [RCV001551789] Chr12:47985822 [GRCh38]
Chr12:48379605 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NC_000012.11:g.(?_48380099)_(48380246_?)dup duplication not provided [RCV003107487] Chr12:48380099..48380246 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2131G>C (p.Gly711Arg) single nucleotide variant not provided [RCV003318208] Chr12:47982910 [GRCh38]
Chr12:48376693 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2895+47G>A single nucleotide variant not provided [RCV001548155] Chr12:47978550 [GRCh38]
Chr12:48372333 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1735-57G>C single nucleotide variant not provided [RCV001671273] Chr12:47985150 [GRCh38]
Chr12:48378933 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2356-56G>T single nucleotide variant not provided [RCV001619011] Chr12:47981885 [GRCh38]
Chr12:48375668 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2798G>A (p.Gly933Glu) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV001645002]|not provided [RCV002546239] Chr12:47978694 [GRCh38]
Chr12:48372477 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4075-148C>T single nucleotide variant not provided [RCV001549632] Chr12:47974479 [GRCh38]
Chr12:48368262 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2626-234C>T single nucleotide variant not provided [RCV001553486] Chr12:47980296 [GRCh38]
Chr12:48374079 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1942-116T>C single nucleotide variant not provided [RCV001695602] Chr12:47983852 [GRCh38]
Chr12:48377635 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3490-70C>T single nucleotide variant not provided [RCV001698877] Chr12:47976140 [GRCh38]
Chr12:48369923 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1844_1846del (p.Gly615_Lys616delinsGlu) deletion not provided [RCV001596887] Chr12:47984587..47984589 [GRCh38]
Chr12:48378370..48378372 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1309C>T (p.Arg437Trp) single nucleotide variant not provided [RCV001596899] Chr12:47987134 [GRCh38]
Chr12:48380917 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.156C>T (p.Cys52=) single nucleotide variant not provided [RCV001556325] Chr12:48000055 [GRCh38]
Chr12:48393838 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1435C>T (p.Gln479Ter) single nucleotide variant COL2A1-related disorder [RCV004542095]|not provided [RCV001723421] Chr12:47986428 [GRCh38]
Chr12:48380211 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1024-221C>A single nucleotide variant not provided [RCV001717480] Chr12:47990026 [GRCh38]
Chr12:48383809 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2680-105G>A single nucleotide variant not provided [RCV001594081] Chr12:47979669 [GRCh38]
Chr12:48373452 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2356-4G>A single nucleotide variant not provided [RCV001700557] Chr12:47981833 [GRCh38]
Chr12:48375616 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1703_1705dup (p.Asp568dup) duplication Type 2 collagenopathy [RCV004594614]|not provided [RCV001964106] Chr12:47985562..47985563 [GRCh38]
Chr12:48379345..48379346 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3057T>G (p.Pro1019=) single nucleotide variant not provided [RCV001572553] Chr12:47978064 [GRCh38]
Chr12:48371847 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser) single nucleotide variant Stickler syndrome type 1 [RCV001564047] Chr12:47980968 [GRCh38]
Chr12:48374751 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val) single nucleotide variant Stickler syndrome type 1 [RCV001564048]|not provided [RCV001865988] Chr12:47985002 [GRCh38]
Chr12:48378785 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1331_1340del (p.Gly444fs) deletion not provided [RCV001545956] Chr12:47987103..47987112 [GRCh38]
Chr12:48380886..48380895 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2014G>T (p.Gly672Cys) single nucleotide variant not provided [RCV001665205] Chr12:47983420 [GRCh38]
Chr12:48377203 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1941+114A>G single nucleotide variant not provided [RCV001617284] Chr12:47983973 [GRCh38]
Chr12:48377756 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4068dup (p.Phe1357fs) duplication not provided [RCV001574303] Chr12:47974680..47974681 [GRCh38]
Chr12:48368463..48368464 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3662C>T (p.Ser1221Phe) single nucleotide variant Abnormal cartilage collagen [RCV001541896] Chr12:47975541 [GRCh38]
Chr12:48369324 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs) duplication Stickler syndrome type 1 [RCV000853283] Chr12:47978384..47978385 [GRCh38]
Chr12:48372167..48372168 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.312A>G (p.Gly104=) single nucleotide variant Achondrogenesis type II [RCV002487983]|not provided [RCV000909812] Chr12:47998199 [GRCh38]
Chr12:48391982 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3887-6del deletion COL2A1-related disorder [RCV004531008]|not provided [RCV000897080] Chr12:47974868 [GRCh38]
Chr12:48368651 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3432T>C (p.Pro1144=) single nucleotide variant not provided [RCV000896848] Chr12:47976815 [GRCh38]
Chr12:48370598 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2050-8T>C single nucleotide variant not provided [RCV000919332] Chr12:47983145 [GRCh38]
Chr12:48376928 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3490-15CT[4] microsatellite COL2A1-related disorder [RCV004735878]|not provided [RCV000904414] Chr12:47976076..47976077 [GRCh38]
Chr12:48369859..48369860 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.509dup (p.Gly171fs) duplication not provided [RCV001093222] Chr12:47997627..47997628 [GRCh38]
Chr12:48391410..48391411 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3173G>A (p.Arg1058His) single nucleotide variant not provided [RCV001241925] Chr12:47977420 [GRCh38]
Chr12:48371203 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1365G>A (p.Thr455=) single nucleotide variant not provided [RCV001241956] Chr12:47987078 [GRCh38]
Chr12:48380861 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4357C>T (p.Arg1453Trp) single nucleotide variant not provided [RCV001244254] Chr12:47973514 [GRCh38]
Chr12:48367297 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.25_26delinsTG (p.Thr9Trp) indel not provided [RCV001244285] Chr12:48004296..48004297 [GRCh38]
Chr12:48398079..48398080 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1855G>A (p.Glu619Lys) single nucleotide variant Achondrogenesis type II [RCV002480678]|not provided [RCV001207459] Chr12:47984578 [GRCh38]
Chr12:48378361 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu) single nucleotide variant Stickler syndrome type 1 [RCV002471053]|not provided [RCV001238938] Chr12:47975501 [GRCh38]
Chr12:48369284 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) single nucleotide variant COL2A1-related disorder [RCV004538482]|not provided [RCV001230190] Chr12:47975376 [GRCh38]
Chr12:48369159 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=) single nucleotide variant Stickler syndrome type 1 [RCV001113971]|Type II Collagenopathies [RCV001113972]|not provided [RCV001517493] Chr12:47975540 [GRCh38]
Chr12:48369323 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.512G>T (p.Gly171Val) single nucleotide variant Inborn genetic diseases [RCV002556170]|Stickler syndrome type 1 [RCV001111051]|Type II Collagenopathies [RCV001113032] Chr12:47997625 [GRCh38]
Chr12:48391408 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3064G>A (p.Val1022Met) single nucleotide variant COL2A1-related disorder [RCV004545132]|not provided [RCV001227411] Chr12:47978057 [GRCh38]
Chr12:48371840 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.*373G>C single nucleotide variant Stickler syndrome type 1 [RCV001113785]|Type II Collagenopathies [RCV001113786] Chr12:47973034 [GRCh38]
Chr12:48366817 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2354G>A (p.Arg785Gln) single nucleotide variant not provided [RCV001236914] Chr12:47982108 [GRCh38]
Chr12:48375891 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser) single nucleotide variant not provided [RCV001063208] Chr12:47985763 [GRCh38]
Chr12:48379546 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2403C>T (p.Gly801=) single nucleotide variant not provided [RCV001057429] Chr12:47981782 [GRCh38]
Chr12:48375565 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp) single nucleotide variant Spondylometaphyseal dysplasia - Sutcliffe type [RCV001194466]|not provided [RCV001231441] Chr12:47989795 [GRCh38]
Chr12:48383578 [GRCh37]
Chr12:12q13.11		 pathogenic|not provided
NM_001844.5(COL2A1):c.903G>T (p.Glu301Asp) single nucleotide variant not provided [RCV001238050] Chr12:47993830 [GRCh38]
Chr12:48387613 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4205A>T (p.Glu1402Val) single nucleotide variant not provided [RCV001228021] Chr12:47974201 [GRCh38]
Chr12:48367984 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3511C>T (p.Pro1171Ser) single nucleotide variant not provided [RCV001229531] Chr12:47976049 [GRCh38]
Chr12:48369832 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.969+8T>G single nucleotide variant not provided [RCV000935332] Chr12:47993450 [GRCh38]
Chr12:48387233 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2742T>C (p.Pro914=) single nucleotide variant not provided [RCV000935840] Chr12:47978750 [GRCh38]
Chr12:48372533 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.86-8T>C single nucleotide variant not provided [RCV000912241] Chr12:48000133 [GRCh38]
Chr12:48393916 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2194-54dup duplication not provided [RCV001656703] Chr12:47982660..47982661 [GRCh38]
Chr12:48376443..48376444 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4056C>T (p.Thr1352=) single nucleotide variant not provided [RCV001551263] Chr12:47974693 [GRCh38]
Chr12:48368476 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4343C>T (p.Thr1448Ile) single nucleotide variant not provided [RCV003231937] Chr12:47973528 [GRCh38]
Chr12:48367311 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3597+162G>A single nucleotide variant not provided [RCV001563054] Chr12:47975801 [GRCh38]
Chr12:48369584 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.709-1G>A single nucleotide variant not provided [RCV001563163] Chr12:47995309 [GRCh38]
Chr12:48389092 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1148_1165dup (p.Arg383_Ala388dup) duplication not provided [RCV001567715] Chr12:47987666..47987667 [GRCh38]
Chr12:48381449..48381450 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4238del (p.Ile1413fs) deletion See cases [RCV003232929] Chr12:47974168 [GRCh38]
Chr12:48367951 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2288_2290delinsTCT (p.Pro763_Lys764delinsLeuTer) indel not provided [RCV001593748] Chr12:47982513..47982515 [GRCh38]
Chr12:48376296..48376298 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2440A>T (p.Ser814Cys) single nucleotide variant not provided [RCV003108254] Chr12:47981366 [GRCh38]
Chr12:48375149 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2962C>T (p.Gln988Ter) single nucleotide variant not provided [RCV003108258] Chr12:47978332 [GRCh38]
Chr12:48372115 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3527G>A (p.Gly1176Asp) single nucleotide variant not provided [RCV000994904] Chr12:47976033 [GRCh38]
Chr12:48369816 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1420-105dup duplication not provided [RCV001559494] Chr12:47986547..47986548 [GRCh38]
Chr12:48380330..48380331 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2950G>A (p.Gly984Ser) single nucleotide variant not provided [RCV001555111] Chr12:47978344 [GRCh38]
Chr12:48372127 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1024-241G>A single nucleotide variant not provided [RCV001560880] Chr12:47990046 [GRCh38]
Chr12:48383829 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.342+3_342+6dup duplication not provided [RCV001594262] Chr12:47998162..47998163 [GRCh38]
Chr12:48391945..48391946 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) single nucleotide variant not provided [RCV001566529] Chr12:47978328 [GRCh38]
Chr12:48372111 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1123-161G>A single nucleotide variant not provided [RCV001556140] Chr12:47987870 [GRCh38]
Chr12:48381653 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2625+41G>A single nucleotide variant not provided [RCV001561494] Chr12:47980513 [GRCh38]
Chr12:48374296 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.925-49C>A single nucleotide variant not provided [RCV001561530] Chr12:47993551 [GRCh38]
Chr12:48387334 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1132G>A (p.Gly378Ser) single nucleotide variant not provided [RCV001556257] Chr12:47987700 [GRCh38]
Chr12:48381483 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1807G>C (p.Gly603Arg) single nucleotide variant COL2A1-related disorder [RCV004529146] Chr12:47985021 [GRCh38]
Chr12:48378804 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter) single nucleotide variant Stickler syndrome type 1 [RCV002471635] Chr12:47986858 [GRCh38]
Chr12:48380641 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2920del (p.Gln974fs) deletion Stickler syndrome type 1 [RCV002471648] Chr12:47978374 [GRCh38]
Chr12:48372157 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.121T>C (p.Tyr41His) single nucleotide variant not provided [RCV002464907] Chr12:48000090 [GRCh38]
Chr12:48393873 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.925-1G>A single nucleotide variant Stickler syndrome type 1 [RCV002471691] Chr12:47993503 [GRCh38]
Chr12:48387286 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2355+5G>T single nucleotide variant not provided [RCV001053462] Chr12:47982102 [GRCh38]
Chr12:48375885 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.261dup (p.Ile88fs) duplication not provided [RCV001008173] Chr12:47999949..47999950 [GRCh38]
Chr12:48393732..48393733 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1888-34G>A single nucleotide variant not provided [RCV001537441] Chr12:47984174 [GRCh38]
Chr12:48377957 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.375+46G>A single nucleotide variant not provided [RCV001654342] Chr12:47997986 [GRCh38]
Chr12:48391769 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4075-1G>C single nucleotide variant not provided [RCV001723311] Chr12:47974332 [GRCh38]
Chr12:48368115 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1528-157del deletion not provided [RCV001593669] Chr12:47986122 [GRCh38]
Chr12:48379905 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+1G>T single nucleotide variant not provided [RCV001549506] Chr12:48004236 [GRCh38]
Chr12:48398019 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.504_505delinsA (p.Pro170fs) indel not provided [RCV001009325] Chr12:47997632..47997633 [GRCh38]
Chr12:48391415..48391416 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2734-99C>T single nucleotide variant not provided [RCV001677720] Chr12:47978857 [GRCh38]
Chr12:48372640 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1069-171T>C single nucleotide variant not provided [RCV001678535] Chr12:47989452 [GRCh38]
Chr12:48383235 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.709-154G>A single nucleotide variant not provided [RCV001673514] Chr12:47995462 [GRCh38]
Chr12:48389245 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3886+220C>A single nucleotide variant not provided [RCV001594287] Chr12:47975097 [GRCh38]
Chr12:48368880 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2295C>G (p.Gly765=) single nucleotide variant not provided [RCV001591578] Chr12:47982508 [GRCh38]
Chr12:48376291 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2410-79C>A single nucleotide variant not provided [RCV001594780] Chr12:47981475 [GRCh38]
Chr12:48375258 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) single nucleotide variant Stickler syndrome type 1 [RCV002291290]|not provided [RCV001008652] Chr12:47980029 [GRCh38]
Chr12:48373812 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3599G>A (p.Gly1200Asp) single nucleotide variant not provided [RCV001093220] Chr12:47975604 [GRCh38]
Chr12:48369387 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2141G>T (p.Gly714Val) single nucleotide variant not provided [RCV001068484] Chr12:47982900 [GRCh38]
Chr12:48376683 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) single nucleotide variant not provided [RCV001384787] Chr12:47987112 [GRCh38]
Chr12:48380895 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2410-13T>G single nucleotide variant Stickler syndrome type 1 [RCV001112797]|Type II Collagenopathies [RCV001112798]|not provided [RCV002069818] Chr12:47981409 [GRCh38]
Chr12:48375192 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.302G>T (p.Gly101Val) single nucleotide variant not provided [RCV001054505] Chr12:47998422 [GRCh38]
Chr12:48392205 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3971T>G (p.Val1324Gly) single nucleotide variant Short stature [RCV001175298] Chr12:47974778 [GRCh38]
Chr12:48368561 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) single nucleotide variant Stickler syndrome type 1 [RCV001109931]|Type II Collagenopathies [RCV001109930]|not provided [RCV001337220] Chr12:47976055 [GRCh38]
Chr12:48369838 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.708+14C>T single nucleotide variant Stickler syndrome type 1 [RCV001110295]|Type II Collagenopathies [RCV001110296]|not provided [RCV001415618] Chr12:47995696 [GRCh38]
Chr12:48389479 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4074+12G>T single nucleotide variant Stickler syndrome type 1 [RCV001110643]|Type II Collagenopathies [RCV001110644]|not provided [RCV001811662] Chr12:47974663 [GRCh38]
Chr12:48368446 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.2633C>T (p.Thr878Ile) single nucleotide variant Stickler syndrome type 1 [RCV001110807]|Type II Collagenopathies [RCV001110808] Chr12:47980055 [GRCh38]
Chr12:48373838 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1995+5G>A single nucleotide variant Stickler syndrome type 1 [RCV001110874]|Type II Collagenopathies [RCV001110873]|not provided [RCV003769124] Chr12:47983678 [GRCh38]
Chr12:48377461 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) single nucleotide variant Stickler syndrome type 1 [RCV001110954]|Type II Collagenopathies [RCV001110955]|not provided [RCV003727861] Chr12:47987694 [GRCh38]
Chr12:48381477 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1735-206C>T single nucleotide variant not provided [RCV001574967] Chr12:47985299 [GRCh38]
Chr12:48379082 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.969+184C>G single nucleotide variant not provided [RCV001645750] Chr12:47993274 [GRCh38]
Chr12:48387057 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2213G>T (p.Gly738Val) single nucleotide variant not provided [RCV001548395] Chr12:47982590 [GRCh38]
Chr12:48376373 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) single nucleotide variant not provided [RCV001337622]|not specified [RCV001000802] Chr12:47974117 [GRCh38]
Chr12:48367900 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.532-177A>T single nucleotide variant not provided [RCV001614228] Chr12:47996802 [GRCh38]
Chr12:48390585 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1085_1096del (p.Ala362_Pro365del) deletion Stickler syndrome, type I, nonsyndromic ocular [RCV001533421] Chr12:47989254..47989265 [GRCh38]
Chr12:48383037..48383048 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1742del (p.Pro581fs) deletion not provided [RCV001583213] Chr12:47985086 [GRCh38]
Chr12:48378869 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1518del (p.Gly507fs) deletion not provided [RCV001584705] Chr12:47986345 [GRCh38]
Chr12:48380128 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.326C>G (p.Pro109Arg) single nucleotide variant not provided [RCV001699642] Chr12:47998185 [GRCh38]
Chr12:48391968 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1941+152A>G single nucleotide variant not provided [RCV001648871] Chr12:47983935 [GRCh38]
Chr12:48377718 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.709-141C>G single nucleotide variant not provided [RCV001724934] Chr12:47995449 [GRCh38]
Chr12:48389232 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2301+148C>T single nucleotide variant not provided [RCV001724946] Chr12:47982354 [GRCh38]
Chr12:48376137 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2464-181T>A single nucleotide variant not provided [RCV001708686] Chr12:47981149 [GRCh38]
Chr12:48374932 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3886+213C>T single nucleotide variant not provided [RCV001672288] Chr12:47975104 [GRCh38]
Chr12:48368887 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3112-87del deletion not provided [RCV001583533] Chr12:47977740 [GRCh38]
Chr12:48371523 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2789G>C (p.Gly930Ala) single nucleotide variant not provided [RCV001596847] Chr12:47978703 [GRCh38]
Chr12:48372486 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1204G>T (p.Gly402Trp) single nucleotide variant not provided [RCV001596861] Chr12:47987628 [GRCh38]
Chr12:48381411 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.970-11G>A single nucleotide variant not provided [RCV001564827] Chr12:47992942 [GRCh38]
Chr12:48386725 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1528G>C (p.Gly510Arg) single nucleotide variant not provided [RCV001596878] Chr12:47985965 [GRCh38]
Chr12:48379748 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3121G>A (p.Gly1041Ser) single nucleotide variant Achondrogenesis type II [RCV003323909]|Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001806243]|Type 2 collagenopathy [RCV003985103]|not provided [RCV001596880] Chr12:47977644 [GRCh38]
Chr12:48371427 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3113G>A (p.Gly1038Glu) single nucleotide variant not provided [RCV001596908] Chr12:47977652 [GRCh38]
Chr12:48371435 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu) single nucleotide variant not provided [RCV001597467] Chr12:47977378 [GRCh38]
Chr12:48371161 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2572G>A (p.Gly858Ser) single nucleotide variant not provided [RCV001597487] Chr12:47980607 [GRCh38]
Chr12:48374390 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3606_3632del (p.Asn1204_Gly1212del) deletion not provided [RCV001597460] Chr12:47975571..47975597 [GRCh38]
Chr12:48369354..48369380 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1357G>A (p.Gly453Ser) single nucleotide variant not provided [RCV001597541] Chr12:47987086 [GRCh38]
Chr12:48380869 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3263GAG[1] (p.Gly1089del) microsatellite not provided [RCV001597531] Chr12:47977325..47977327 [GRCh38]
Chr12:48371108..48371110 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.816+105C>T single nucleotide variant not provided [RCV001710104] Chr12:47994319 [GRCh38]
Chr12:48388102 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4388T>C (p.Ile1463Thr) single nucleotide variant not provided [RCV001061528] Chr12:47973483 [GRCh38]
Chr12:48367266 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln) single nucleotide variant Achondrogenesis type II [RCV001196430]|not provided [RCV002560221] Chr12:47975985 [GRCh38]
Chr12:48369768 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4420G>A (p.Glu1474Lys) single nucleotide variant Inborn genetic diseases [RCV004033670]|not provided [RCV001206377] Chr12:47973451 [GRCh38]
Chr12:48367234 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1221+1G>A single nucleotide variant COL2A1-related disorder [RCV004734006]|Retinal dystrophy [RCV001073695]|not provided [RCV001377071] Chr12:47987610 [GRCh38]
Chr12:48381393 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1841C>T (p.Pro614Leu) single nucleotide variant not provided [RCV001207569] Chr12:47984592 [GRCh38]
Chr12:48378375 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47997708del deletion not provided [RCV001235844] Chr12:47997706 [GRCh38]
Chr12:48391489 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3328-2A>G single nucleotide variant not provided [RCV001207604] Chr12:47976921 [GRCh38]
Chr12:48370704 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1833+1G>A single nucleotide variant Retinal dystrophy [RCV001074728]|Stickler syndrome type 1 [RCV002290588]|not provided [RCV001387557] Chr12:47984994 [GRCh38]
Chr12:48378777 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1581+16G>A single nucleotide variant not provided [RCV001408952]|not specified [RCV001002547] Chr12:47985896 [GRCh38]
Chr12:48379679 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1941+18C>T single nucleotide variant Achondrogenesis type II [RCV001198617]|not provided [RCV002560251] Chr12:47984069 [GRCh38]
Chr12:48377852 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2301+8_2301+9delinsA indel Retinal dystrophy [RCV001075692] Chr12:47982493..47982494 [GRCh38]
Chr12:48376276..48376277 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.157C>T (p.Arg53Trp) single nucleotide variant not provided [RCV001041293] Chr12:48000054 [GRCh38]
Chr12:48393837 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=) single nucleotide variant COL2A1-related disorder [RCV004538334]|Stickler syndrome type 1 [RCV001112536]|Type II Collagenopathies [RCV001112535]|not provided [RCV001410869] Chr12:47973521 [GRCh38]
Chr12:48367304 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.924+14A>C single nucleotide variant Stickler syndrome type 1 [RCV001112958]|Type II Collagenopathies [RCV001112959] Chr12:47993795 [GRCh38]
Chr12:48387578 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1934G>C (p.Gly645Ala) single nucleotide variant not specified [RCV001000706] Chr12:47984094 [GRCh38]
Chr12:48377877 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter) single nucleotide variant Inborn genetic diseases [RCV001266759]|not provided [RCV001213799] Chr12:48000096 [GRCh38]
Chr12:48393879 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2120G>A (p.Arg707His) single nucleotide variant not provided [RCV001044128] Chr12:47982921 [GRCh38]
Chr12:48376704 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1486G>C (p.Glu496Gln) single nucleotide variant not provided [RCV001044752] Chr12:47986377 [GRCh38]
Chr12:48380160 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4034A>C (p.Lys1345Thr) single nucleotide variant not provided [RCV001204884] Chr12:47974715 [GRCh38]
Chr12:48368498 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2194G>C (p.Gly732Arg) single nucleotide variant not provided [RCV001171886] Chr12:47982609 [GRCh38]
Chr12:48376392 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3166-3C>T single nucleotide variant not provided [RCV001234508] Chr12:47977430 [GRCh38]
Chr12:48371213 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.506C>A (p.Pro169His) single nucleotide variant not provided [RCV001213167] Chr12:47997631 [GRCh38]
Chr12:48391414 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1342C>T (p.Pro448Ser) single nucleotide variant not provided [RCV001203857] Chr12:47987101 [GRCh38]
Chr12:48380884 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.151C>T (p.Pro51Ser) single nucleotide variant not provided [RCV001232295] Chr12:48000060 [GRCh38]
Chr12:48393843 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1148G>A (p.Arg383His) single nucleotide variant not provided [RCV001248248] Chr12:47987684 [GRCh38]
Chr12:48381467 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.112G>A (p.Gly38Arg) single nucleotide variant not provided [RCV001235397] Chr12:48000099 [GRCh38]
Chr12:48393882 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) single nucleotide variant MASS syndrome [RCV001731194]|not provided [RCV001046146] Chr12:48000018 [GRCh38]
Chr12:48393801 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.214G>A (p.Val72Met) single nucleotide variant not provided [RCV001230757] Chr12:47999997 [GRCh38]
Chr12:48393780 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3436-2A>G single nucleotide variant Spondyloperipheral dysplasia [RCV001029820] Chr12:47976569 [GRCh38]
Chr12:48370352 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) single nucleotide variant Stickler syndrome type 1 [RCV001114317]|Type II Collagenopathies [RCV001114318]|not provided [RCV002556237] Chr12:47995306 [GRCh38]
Chr12:48389089 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.941C>T (p.Pro314Leu) single nucleotide variant Inborn genetic diseases [RCV003160248]|not provided [RCV001039132] Chr12:47993486 [GRCh38]
Chr12:48387269 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.842_843insT (p.Gly282fs) insertion Retinal detachment [RCV001002985] Chr12:47994021..47994022 [GRCh38]
Chr12:48387804..48387805 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1527+135G>A single nucleotide variant Stargardt disease [RCV001002986]|not provided [RCV001571488] Chr12:47986201 [GRCh38]
Chr12:48379984 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2518-3T>C single nucleotide variant not provided [RCV001064319] Chr12:47980664 [GRCh38]
Chr12:48374447 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) single nucleotide variant not provided [RCV001064726] Chr12:47975520 [GRCh38]
Chr12:48369303 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) single nucleotide variant Connective tissue disorder [RCV002276596]|Stickler syndrome type 1 [RCV001114066]|Type II Collagenopathies [RCV001114067]|not provided [RCV001041428] Chr12:47978385 [GRCh38]
Chr12:48372168 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2753dup (p.Pro919fs) duplication not provided [RCV001212112] Chr12:47978738..47978739 [GRCh38]
Chr12:48372521..48372522 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001251152]|not provided [RCV001879814] Chr12:47986406 [GRCh38]
Chr12:48380189 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3553G>C (p.Gly1185Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001257162] Chr12:47976007 [GRCh38]
Chr12:48369790 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2302-2A>G single nucleotide variant Inborn genetic diseases [RCV001266332] Chr12:47982162 [GRCh38]
Chr12:48375945 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3442_3444del (p.Ser1148del) deletion COL2A1-related skeletal dysplasia [RCV001265585]|Spondyloepiphyseal dysplasia congenita [RCV001787128] Chr12:47976559..47976561 [GRCh38]
Chr12:48370342..48370344 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.659C>T (p.Pro220Leu) single nucleotide variant Inborn genetic diseases [RCV004608109] Chr12:47995759 [GRCh38]
Chr12:48389542 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1682G>T (p.Gly561Val) single nucleotide variant not provided [RCV001268744] Chr12:47985586 [GRCh38]
Chr12:48379369 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.610-17_617del deletion Stickler syndrome type 1 [RCV001543669]|not provided [RCV002570662] Chr12:47995912..47995936 [GRCh38]
Chr12:48389695..48389719 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3165+2_3166-84del deletion Stickler syndrome type 1 [RCV001269479] Chr12:47977511..47977598 [GRCh38]
Chr12:48371294..48371381 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3437G>A (p.Gly1146Asp) single nucleotide variant not provided [RCV001269677] Chr12:47976566 [GRCh38]
Chr12:48370349 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) single nucleotide variant Spondyloepiphyseal dysplasia with metatarsal shortening [RCV001332046]|Stickler syndrome type 1 [RCV003989668]|not provided [RCV001270004] Chr12:47983128 [GRCh38]
Chr12:48376911 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3062CCGTGGGTCCTCCTGGCC[4] (p.1021PVGPPG[4]) microsatellite Inborn genetic diseases [RCV001267581] Chr12:47978041..47978042 [GRCh38]
Chr12:48371824..48371825 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.541G>T (p.Ala181Ser) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV001262891] Chr12:47996616 [GRCh38]
Chr12:48390399 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4256T>C (p.Val1419Ala) single nucleotide variant not provided [RCV001341787] Chr12:47974150 [GRCh38]
Chr12:48367933 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.1057G>A (p.Ala353Thr) single nucleotide variant Achondrogenesis type II [RCV002486158]|COL2A1-related disorder [RCV004531082]|not provided [RCV001300487] Chr12:47989772 [GRCh38]
Chr12:48383555 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1023+4A>G single nucleotide variant not provided [RCV001320195] Chr12:47992874 [GRCh38]
Chr12:48386657 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1679G>A (p.Arg560Gln) single nucleotide variant not provided [RCV001325630] Chr12:47985729 [GRCh38]
Chr12:48379512 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2733+19A>G single nucleotide variant not provided [RCV001319320] Chr12:47979492 [GRCh38]
Chr12:48373275 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.959C>T (p.Pro320Leu) single nucleotide variant not provided [RCV001296399] Chr12:47993468 [GRCh38]
Chr12:48387251 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3843C>T (p.Arg1281=) single nucleotide variant not provided [RCV001298279] Chr12:47975360 [GRCh38]
Chr12:48369143 [GRCh37]
Chr12:12q13.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2570A>G (p.Lys857Arg) single nucleotide variant not provided [RCV001299198] Chr12:47980609 [GRCh38]
Chr12:48374392 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1833C>T (p.Asn611=) single nucleotide variant not provided [RCV001314503] Chr12:47984995 [GRCh38]
Chr12:48378778 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2119C>G (p.Arg707Gly) single nucleotide variant not provided [RCV001326347] Chr12:47982922 [GRCh38]
Chr12:48376705 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.8G>T (p.Arg3Leu) single nucleotide variant not provided [RCV001317703] Chr12:48004314 [GRCh38]
Chr12:48398097 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001293670] Chr12:47978632 [GRCh38]
Chr12:48372415 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.388G>C (p.Glu130Gln) single nucleotide variant not provided [RCV001315678] Chr12:47997912 [GRCh38]
Chr12:48391695 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4149G>A (p.Thr1383=) single nucleotide variant not provided [RCV001342344] Chr12:47974257 [GRCh38]
Chr12:48368040 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn) single nucleotide variant not provided [RCV001325892] Chr12:48000015 [GRCh38]
Chr12:48393798 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4291T>C (p.Tyr1431His) single nucleotide variant not provided [RCV001311809] Chr12:47974115 [GRCh38]
Chr12:48367898 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.436C>T (p.Pro146Ser) single nucleotide variant not provided [RCV001321614] Chr12:47997701 [GRCh38]
Chr12:48391484 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4348A>G (p.Ile1450Val) single nucleotide variant not provided [RCV001318454] Chr12:47973523 [GRCh38]
Chr12:48367306 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) single nucleotide variant not provided [RCV001318541] Chr12:47974151 [GRCh38]
Chr12:48367934 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4102C>T (p.Pro1368Ser) single nucleotide variant not provided [RCV001337629] Chr12:47974304 [GRCh38]
Chr12:48368087 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3084G>A (p.Thr1028=) single nucleotide variant not provided [RCV001319303] Chr12:47978037 [GRCh38]
Chr12:48371820 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NC_000012.11:g.(?_48240430)_(48539491_?)dup duplication not provided [RCV001319329] Chr12:48240430..48539491 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3172C>T (p.Arg1058Cys) single nucleotide variant COL2A1-related disorder [RCV004734118]|not provided [RCV001315606] Chr12:47977421 [GRCh38]
Chr12:48371204 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1497C>T (p.Gly499=) single nucleotide variant not provided [RCV001415128] Chr12:47986366 [GRCh38]
Chr12:48380149 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2629C>T (p.Pro877Ser) single nucleotide variant not provided [RCV001361305] Chr12:47980059 [GRCh38]
Chr12:48373842 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3115A>G (p.Ser1039Gly) single nucleotide variant Inborn genetic diseases [RCV002547796]|not provided [RCV001362427] Chr12:47977650 [GRCh38]
Chr12:48371433 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1680+8_1680+9delinsTA indel not provided [RCV001433823]|not specified [RCV004690105] Chr12:47985719..47985720 [GRCh38]
Chr12:48379502..48379503 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1681-7A>G single nucleotide variant not provided [RCV001415165] Chr12:47985594 [GRCh38]
Chr12:48379377 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser) single nucleotide variant Stickler syndrome type 1 [RCV002246366]|not provided [RCV001382420] Chr12:47976070 [GRCh38]
Chr12:48369853 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3328G>T (p.Gly1110Cys) single nucleotide variant not provided [RCV001810664] Chr12:47976919 [GRCh38]
Chr12:48370702 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1661C>T (p.Pro554Leu) single nucleotide variant not provided [RCV001372616] Chr12:47985747 [GRCh38]
Chr12:48379530 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.276C>T (p.Asp92=) single nucleotide variant not provided [RCV001422604] Chr12:47999935 [GRCh38]
Chr12:48393718 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3328-13G>A single nucleotide variant not provided [RCV001412954] Chr12:47976932 [GRCh38]
Chr12:48370715 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2166C>T (p.Pro722=) single nucleotide variant not provided [RCV001412899] Chr12:47982875 [GRCh38]
Chr12:48376658 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2756C>T (p.Pro919Leu) single nucleotide variant Spondyloepiphyseal dysplasia, Namaqualand type [RCV001375853] Chr12:47978736 [GRCh38]
Chr12:48372519 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2150del (p.Gly717fs) deletion not provided [RCV001382379] Chr12:47982891 [GRCh38]
Chr12:48376674 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4221C>G (p.Leu1407=) single nucleotide variant not provided [RCV001422692] Chr12:47974185 [GRCh38]
Chr12:48367968 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3478T>G (p.Ser1160Ala) single nucleotide variant not provided [RCV001369270] Chr12:47976525 [GRCh38]
Chr12:48370308 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1421_1426del (p.Gly474_Pro475del) deletion Kniest dysplasia [RCV001787260] Chr12:47986437..47986442 [GRCh38]
Chr12:48380220..48380225 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2671G>A (p.Gly891Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787263] Chr12:47980017 [GRCh38]
Chr12:48373800 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787264] Chr12:47976901 [GRCh38]
Chr12:48370684 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3554G>A (p.Gly1185Glu) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001787266] Chr12:47976006 [GRCh38]
Chr12:48369789 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.620G>T (p.Gly207Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787268] Chr12:47995909 [GRCh38]
Chr12:48389692 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3897G>T (p.Trp1299Cys) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787269] Chr12:47974852 [GRCh38]
Chr12:48368635 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3950T>G (p.Met1317Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787270] Chr12:47974799 [GRCh38]
Chr12:48368582 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1069G>A (p.Gly357Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787278] Chr12:47989281 [GRCh38]
Chr12:48383064 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1090G>T (p.Gly364Cys) single nucleotide variant Spondyloperipheral dysplasia [RCV001787279] Chr12:47989260 [GRCh38]
Chr12:48383043 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1348G>C (p.Gly450Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001787282] Chr12:47987095 [GRCh38]
Chr12:48380878 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2942dup (p.Ile982fs) duplication not provided [RCV001382951] Chr12:47978351..47978352 [GRCh38]
Chr12:48372134..48372135 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1880G>A (p.Gly627Asp) single nucleotide variant not provided [RCV001305957] Chr12:47984553 [GRCh38]
Chr12:48378336 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs) duplication Stickler syndrome, type I, nonsyndromic ocular [RCV001376371] Chr12:47975445..47975446 [GRCh38]
Chr12:48369228..48369229 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3235G>A (p.Ala1079Thr) single nucleotide variant COL2A1-related disorder [RCV004531266]|not provided [RCV001415016] Chr12:47977358 [GRCh38]
Chr12:48371141 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.4323_4324del (p.Thr1442fs) deletion not provided [RCV001382933] Chr12:47973547..47973548 [GRCh38]
Chr12:48367330..48367331 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3827G>T (p.Arg1276Leu) single nucleotide variant not provided [RCV001349079] Chr12:47975376 [GRCh38]
Chr12:48369159 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2491G>C (p.Gly831Arg) single nucleotide variant not provided [RCV001383250] Chr12:47980941 [GRCh38]
Chr12:48374724 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2551C>G (p.Gln851Glu) single nucleotide variant not provided [RCV001295064] Chr12:47980628 [GRCh38]
Chr12:48374411 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2219C>A (p.Pro740His) single nucleotide variant not provided [RCV001373636] Chr12:47982584 [GRCh38]
Chr12:48376367 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3756C>A (p.Asp1252Glu) single nucleotide variant COL2A1-related disorder [RCV004531162]|not provided [RCV001362196] Chr12:47975447 [GRCh38]
Chr12:48369230 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4020G>C (p.Lys1340Asn) single nucleotide variant not provided [RCV001301279] Chr12:47974729 [GRCh38]
Chr12:48368512 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1372C>T (p.Pro458Ser) single nucleotide variant not provided [RCV001368761] Chr12:47986882 [GRCh38]
Chr12:48380665 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.224G>T (p.Cys75Phe) single nucleotide variant not provided [RCV001364844] Chr12:47999987 [GRCh38]
Chr12:48393770 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1996-10C>A single nucleotide variant not provided [RCV001346650] Chr12:47983448 [GRCh38]
Chr12:48377231 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser) single nucleotide variant Spondyloperipheral dysplasia [RCV001293715] Chr12:47986861 [GRCh38]
Chr12:48380644 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) single nucleotide variant not provided [RCV001297636] Chr12:48000054 [GRCh38]
Chr12:48393837 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3757G>A (p.Ala1253Thr) single nucleotide variant not provided [RCV001339898] Chr12:47975446 [GRCh38]
Chr12:48369229 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2678C>T (p.Pro893Leu) single nucleotide variant not provided [RCV001301680] Chr12:47980010 [GRCh38]
Chr12:48373793 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3287C>T (p.Pro1096Leu) single nucleotide variant not provided [RCV001360899] Chr12:47977142 [GRCh38]
Chr12:48370925 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2452C>T (p.Arg818Cys) single nucleotide variant not provided [RCV001338761] Chr12:47981354 [GRCh38]
Chr12:48375137 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.919G>A (p.Val307Met) single nucleotide variant not provided [RCV001361140] Chr12:47993814 [GRCh38]
Chr12:48387597 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=) single nucleotide variant Stickler syndrome type 1 [RCV002294450]|not provided [RCV001269946] Chr12:47978630 [GRCh38]
Chr12:48372413 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2165C>G (p.Pro722Arg) single nucleotide variant not provided [RCV001323115] Chr12:47982876 [GRCh38]
Chr12:48376659 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3760G>A (p.Glu1254Lys) single nucleotide variant Inborn genetic diseases [RCV003263959]|not provided [RCV001324180] Chr12:47975443 [GRCh38]
Chr12:48369226 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2147A>G (p.Gln716Arg) single nucleotide variant not provided [RCV001311810] Chr12:47982894 [GRCh38]
Chr12:48376677 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=) single nucleotide variant not provided [RCV001323273]|not specified [RCV003331114] Chr12:47981373 [GRCh38]
Chr12:48375156 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.73G>A (p.Gly25Ser) single nucleotide variant not provided [RCV001347380] Chr12:48004249 [GRCh38]
Chr12:48398032 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3080T>C (p.Leu1027Pro) single nucleotide variant not provided [RCV001372469] Chr12:47978041 [GRCh38]
Chr12:48371824 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3317G>A (p.Arg1106Gln) single nucleotide variant not provided [RCV001352389] Chr12:47977112 [GRCh38]
Chr12:48370895 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1735G>A (p.Gly579Arg) single nucleotide variant not provided [RCV001342706] Chr12:47985093 [GRCh38]
Chr12:48378876 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.7C>G (p.Arg3Gly) single nucleotide variant not provided [RCV001324415] Chr12:48004315 [GRCh38]
Chr12:48398098 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.581C>T (p.Ala194Val) single nucleotide variant not provided [RCV001361736] Chr12:47996576 [GRCh38]
Chr12:48390359 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4247C>T (p.Ser1416Phe) single nucleotide variant not provided [RCV001359246] Chr12:47974159 [GRCh38]
Chr12:48367942 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1888G>A (p.Gly630Ser) single nucleotide variant not provided [RCV001311811] Chr12:47984140 [GRCh38]
Chr12:48377923 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.623C>T (p.Pro208Leu) single nucleotide variant not provided [RCV001311812] Chr12:47995906 [GRCh38]
Chr12:48389689 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.430-23_441del deletion not provided [RCV001311813] Chr12:47997696..47997730 [GRCh38]
Chr12:48391479..48391513 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3344G>A (p.Arg1115Lys) single nucleotide variant not provided [RCV001342865] Chr12:47976903 [GRCh38]
Chr12:48370686 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3511C>G (p.Pro1171Ala) single nucleotide variant not provided [RCV001339281] Chr12:47976049 [GRCh38]
Chr12:48369832 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3119C>T (p.Pro1040Leu) single nucleotide variant not provided [RCV001322568] Chr12:47977646 [GRCh38]
Chr12:48371429 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3439C>G (p.Pro1147Ala) single nucleotide variant COL2A1-related disorder [RCV004531113]|not provided [RCV001323608] Chr12:47976564 [GRCh38]
Chr12:48370347 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1400A>G (p.Gln467Arg) single nucleotide variant not provided [RCV001373186] Chr12:47986854 [GRCh38]
Chr12:48380637 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.3400G>A (p.Gly1134Ser) single nucleotide variant not provided [RCV001963858] Chr12:47976847 [GRCh38]
Chr12:48370630 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3165+4_3165+7del deletion COL2A1-related disorder [RCV004531139]|not provided [RCV001345519] Chr12:47977593..47977596 [GRCh38]
Chr12:48371376..48371379 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2947G>A (p.Val983Ile) single nucleotide variant not provided [RCV001309320] Chr12:47978347 [GRCh38]
Chr12:48372130 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2458G>A (p.Ala820Thr) single nucleotide variant not provided [RCV001343384] Chr12:47981348 [GRCh38]
Chr12:48375131 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.2812C>A (p.Pro938Thr) single nucleotide variant not provided [RCV001315377] Chr12:47978680 [GRCh38]
Chr12:48372463 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4397C>A (p.Ala1466Glu) single nucleotide variant not provided [RCV001298943] Chr12:47973474 [GRCh38]
Chr12:48367257 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3007G>A (p.Glu1003Lys) single nucleotide variant Achondrogenesis type II [RCV002493673]|not provided [RCV001319757] Chr12:47978114 [GRCh38]
Chr12:48371897 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.376-1G>A single nucleotide variant not provided [RCV001311814] Chr12:47997925 [GRCh38]
Chr12:48391708 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2018C>T (p.Pro673Leu) single nucleotide variant COL2A1-related disorder [RCV004528481]|not provided [RCV001359763] Chr12:47983416 [GRCh38]
Chr12:48377199 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2309T>G (p.Val770Gly) single nucleotide variant not provided [RCV001340184] Chr12:47982153 [GRCh38]
Chr12:48375936 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4091A>C (p.Asp1364Ala) single nucleotide variant not provided [RCV001360110] Chr12:47974315 [GRCh38]
Chr12:48368098 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2410-9C>T single nucleotide variant not provided [RCV001396004] Chr12:47981405 [GRCh38]
Chr12:48375188 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2490C>T (p.Pro830=) single nucleotide variant not provided [RCV001448534] Chr12:47980942 [GRCh38]
Chr12:48374725 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.553GGA[1] (p.Gly186del) microsatellite not provided [RCV001318326] Chr12:47996599..47996601 [GRCh38]
Chr12:48390382..48390384 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3241C>T (p.Pro1081Ser) single nucleotide variant not provided [RCV001371477] Chr12:47977352 [GRCh38]
Chr12:48371135 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1678C>T (p.Arg560Trp) single nucleotide variant not provided [RCV001352020] Chr12:47985730 [GRCh38]
Chr12:48379513 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1929C>A (p.Pro643=) single nucleotide variant not provided [RCV001396414] Chr12:47984099 [GRCh38]
Chr12:48377882 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1023+1G>C single nucleotide variant Kniest dysplasia [RCV001787131]|Multiple epiphyseal dysplasia, Beighton type [RCV001353381] Chr12:47992877 [GRCh38]
Chr12:48386660 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.320G>C (p.Gly107Ala) single nucleotide variant not provided [RCV001315103] Chr12:47998191 [GRCh38]
Chr12:48391974 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met) single nucleotide variant Stickler syndrome [RCV001375161]|not provided [RCV001568263] Chr12:47987079 [GRCh38]
Chr12:48380862 [GRCh37]
Chr12:12q13.11		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1830C>T (p.Ala610=) single nucleotide variant not provided [RCV001412427] Chr12:47984998 [GRCh38]
Chr12:48378781 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3328-20G>A single nucleotide variant not provided [RCV001368923] Chr12:47976939 [GRCh38]
Chr12:48370722 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3259G>C (p.Asp1087His) single nucleotide variant Inborn genetic diseases [RCV003284177]|not provided [RCV001314855] Chr12:47977334 [GRCh38]
Chr12:48371117 [GRCh37]
Chr12:12q13.11		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_001844.5(COL2A1):c.4325C>A (p.Thr1442Asn) single nucleotide variant not provided [RCV001361021] Chr12:47973546 [GRCh38]
Chr12:48367329 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3165+20G>T single nucleotide variant not provided [RCV001413403] Chr12:47977580 [GRCh38]
Chr12:48371363 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.445C>T (p.Arg149Cys) single nucleotide variant not provided [RCV001327770] Chr12:47997692 [GRCh38]
Chr12:48391475 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.2463G>A (p.Pro821=) single nucleotide variant not provided [RCV001359553] Chr12:47981343 [GRCh38]
Chr12:48375126 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NC_000012.11:g.(?_48390321)_(48391857_?)del deletion not provided [RCV001308443] Chr12:48390321..48391857 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys) single nucleotide variant Stickler syndrome type 1 [RCV001333975]|not provided [RCV002546662] Chr12:47983137 [GRCh38]
Chr12:48376920 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.3588C>T (p.Thr1196=) single nucleotide variant not provided [RCV001440867] Chr12:47975972 [GRCh38]
Chr12:48369755 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2652A>G (p.Lys884=) single nucleotide variant not provided [RCV001402087] Chr12:47980036 [GRCh38]
Chr12:48373819 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1332T>C (p.Gly444=) single nucleotide variant not provided [RCV001470015] Chr12:47987111 [GRCh38]
Chr12:48380894 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1866G>A (p.Leu622=) single nucleotide variant not provided [RCV001454867] Chr12:47984567 [GRCh38]
Chr12:48378350 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.75C>G (p.Gly25=) single nucleotide variant not provided [RCV001420088] Chr12:48004247 [GRCh38]
Chr12:48398030 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1017C>T (p.Gly339=) single nucleotide variant not provided [RCV001441081] Chr12:47992884 [GRCh38]
Chr12:48386667 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+10C>A single nucleotide variant not provided [RCV001468596] Chr12:48004227 [GRCh38]
Chr12:48398010 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.528T>A (p.Gly176=) single nucleotide variant COL2A1-related disorder [RCV004533931]|not provided [RCV001514679] Chr12:47997609 [GRCh38]
Chr12:48391392 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.1142G>A (p.Gly381Asp) single nucleotide variant not provided [RCV001385336] Chr12:47987690 [GRCh38]
Chr12:48381473 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.709-1G>C single nucleotide variant not provided [RCV001385338] Chr12:47995309 [GRCh38]
Chr12:48389092 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.51C>T (p.Val17=) single nucleotide variant not provided [RCV001436576] Chr12:48004271 [GRCh38]
Chr12:48398054 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.883del (p.Leu295fs) deletion not provided [RCV001390122] Chr12:47993850 [GRCh38]
Chr12:48387633 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3234C>T (p.Pro1078=) single nucleotide variant not provided [RCV001455312] Chr12:47977359 [GRCh38]
Chr12:48371142 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.376-4T>G single nucleotide variant not provided [RCV001474040] Chr12:47997928 [GRCh38]
Chr12:48391711 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-10del deletion not provided [RCV001425826] Chr12:47982170 [GRCh38]
Chr12:48375953 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2726G>C (p.Gly909Ala) single nucleotide variant not provided [RCV001378814] Chr12:47979518 [GRCh38]
Chr12:48373301 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2094+8T>A single nucleotide variant not provided [RCV001500359] Chr12:47983085 [GRCh38]
Chr12:48376868 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3887-8C>T single nucleotide variant not provided [RCV001483108] Chr12:47974870 [GRCh38]
Chr12:48368653 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3426C>T (p.Pro1142=) single nucleotide variant COL2A1-related disorder [RCV004533875]|not provided [RCV001492949] Chr12:47976821 [GRCh38]
Chr12:48370604 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1420-13T>C single nucleotide variant not provided [RCV001466098] Chr12:47986456 [GRCh38]
Chr12:48380239 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.762+20_762+21delinsAC indel not provided [RCV001475800] Chr12:47995234..47995235 [GRCh38]
Chr12:48389017..48389018 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2892C>T (p.Pro964=) single nucleotide variant Connective tissue disorder [RCV002276741]|not provided [RCV001456634] Chr12:47978600 [GRCh38]
Chr12:48372383 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4075-1G>T single nucleotide variant not provided [RCV001379467] Chr12:47974332 [GRCh38]
Chr12:48368115 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.261C>T (p.Pro87=) single nucleotide variant not provided [RCV001406281] Chr12:47999950 [GRCh38]
Chr12:48393733 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2752G>T (p.Gly918Cys) single nucleotide variant not provided [RCV001377070] Chr12:47978740 [GRCh38]
Chr12:48372523 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2943C>G (p.Gly981=) single nucleotide variant not provided [RCV001493332] Chr12:47978351 [GRCh38]
Chr12:48372134 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1509C>T (p.Ile503=) single nucleotide variant not provided [RCV001403938] Chr12:47986354 [GRCh38]
Chr12:48380137 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2410-1G>A single nucleotide variant not provided [RCV001379817] Chr12:47981397 [GRCh38]
Chr12:48375180 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2485C>A (p.Pro829Thr) single nucleotide variant not provided [RCV001381930] Chr12:47980947 [GRCh38]
Chr12:48374730 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2610A>G (p.Gly870=) single nucleotide variant not provided [RCV001467871] Chr12:47980569 [GRCh38]
Chr12:48374352 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3112-159C>T single nucleotide variant not provided [RCV001538752] Chr12:47977812 [GRCh38]
Chr12:48371595 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.709-4del deletion not provided [RCV001581940] Chr12:47995312 [GRCh38]
Chr12:48389095 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1038C>T (p.Asn346=) single nucleotide variant not provided [RCV001394114] Chr12:47989791 [GRCh38]
Chr12:48383574 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1015G>A (p.Gly339Ser) single nucleotide variant not provided [RCV001378962] Chr12:47992886 [GRCh38]
Chr12:48386669 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3490-2A>G single nucleotide variant not provided [RCV001377706] Chr12:47976072 [GRCh38]
Chr12:48369855 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.376-1G>C single nucleotide variant not provided [RCV001379039] Chr12:47997925 [GRCh38]
Chr12:48391708 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.817-10T>C single nucleotide variant not provided [RCV001407166] Chr12:47994057 [GRCh38]
Chr12:48387840 [GRCh37]
Chr12:12q13.11		 likely benign
NC_000012.12:g.47976568del deletion not provided [RCV001388155] Chr12:47976566 [GRCh38]
Chr12:48370349 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4317+15C>T single nucleotide variant not provided [RCV001412057] Chr12:47974074 [GRCh38]
Chr12:48367857 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1259G>A (p.Gly420Glu) single nucleotide variant not provided [RCV001387558] Chr12:47987276 [GRCh38]
Chr12:48381059 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.501C>T (p.Pro167=) single nucleotide variant not provided [RCV001402237] Chr12:47997636 [GRCh38]
Chr12:48391419 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3966_3967del (p.Cys1323fs) deletion not provided [RCV001381270] Chr12:47974782..47974783 [GRCh38]
Chr12:48368565..48368566 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.509del (p.Pro170fs) deletion not provided [RCV001389545] Chr12:47997628 [GRCh38]
Chr12:48391411 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2886C>T (p.Asp962=) single nucleotide variant Achondrogenesis type II [RCV002501540]|not provided [RCV001436523] Chr12:47978606 [GRCh38]
Chr12:48372389 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del) deletion Achondrogenesis type II [RCV003388006]|not provided [RCV001379358] Chr12:47978376..47978384 [GRCh38]
Chr12:48372159..48372167 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NC_000012.11:g.(?_48377202)_48380607del deletion not provided [RCV001389616]   pathogenic
NM_001844.5(COL2A1):c.531+16T>C single nucleotide variant not provided [RCV001449091] Chr12:47997590 [GRCh38]
Chr12:48391373 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4405G>T (p.Asp1469Tyr) single nucleotide variant not provided [RCV001389965] Chr12:47973466 [GRCh38]
Chr12:48367249 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3922T>C (p.Leu1308=) single nucleotide variant not provided [RCV001436092] Chr12:47974827 [GRCh38]
Chr12:48368610 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1941+2_1941+7dup duplication not provided [RCV001444243] Chr12:47984079..47984080 [GRCh38]
Chr12:48377862..48377863 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2381dup (p.Gly795fs) duplication not provided [RCV001390121] Chr12:47981803..47981804 [GRCh38]
Chr12:48375586..48375587 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.333C>T (p.Asp111=) single nucleotide variant not provided [RCV001403089] Chr12:47998178 [GRCh38]
Chr12:48391961 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.398C>A (p.Pro133His) single nucleotide variant COL2A1-related disorder [RCV004734169]|not provided [RCV001399791] Chr12:47997902 [GRCh38]
Chr12:48391685 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.310-8T>C single nucleotide variant not provided [RCV001423235] Chr12:47998209 [GRCh38]
Chr12:48391992 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1043del (p.Gly348fs) deletion not provided [RCV001388189] Chr12:47989786 [GRCh38]
Chr12:48383569 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser) single nucleotide variant Stickler syndrome type 1 [RCV002286578]|not provided [RCV001377044] Chr12:47978686 [GRCh38]
Chr12:48372469 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.683G>A (p.Gly228Asp) single nucleotide variant not provided [RCV001378412] Chr12:47995735 [GRCh38]
Chr12:48389518 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1996-9G>A single nucleotide variant COL2A1-related disorder [RCV004545218]|not provided [RCV001378414]|not specified [RCV002246357] Chr12:47983447 [GRCh38]
Chr12:48377230 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1728C>T (p.Gly576=) single nucleotide variant not provided [RCV001399947] Chr12:47985540 [GRCh38]
Chr12:48379323 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4159C>T (p.Gln1387Ter) single nucleotide variant not provided [RCV001388681] Chr12:47974247 [GRCh38]
Chr12:48368030 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2356-1G>A single nucleotide variant not provided [RCV001378506] Chr12:47981830 [GRCh38]
Chr12:48375613 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3436-7T>C single nucleotide variant not provided [RCV001437899] Chr12:47976574 [GRCh38]
Chr12:48370357 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3132C>T (p.Gly1044=) single nucleotide variant not provided [RCV001403912] Chr12:47977633 [GRCh38]
Chr12:48371416 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3266G>A (p.Gly1089Glu) single nucleotide variant not provided [RCV001376983] Chr12:47977327 [GRCh38]
Chr12:48371110 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2788G>A (p.Gly930Ser) single nucleotide variant Spondyloperipheral dysplasia [RCV002250755]|not provided [RCV001379612] Chr12:47978704 [GRCh38]
Chr12:48372487 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3122_3125dup (p.Asp1043fs) duplication not provided [RCV001381544] Chr12:47977639..47977640 [GRCh38]
Chr12:48371422..48371423 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3645C>T (p.Gly1215=) single nucleotide variant not provided [RCV001447737] Chr12:47975558 [GRCh38]
Chr12:48369341 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4317+8G>A single nucleotide variant not provided [RCV001411135] Chr12:47974081 [GRCh38]
Chr12:48367864 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1331G>A (p.Gly444Asp) single nucleotide variant Spondyloperipheral dysplasia [RCV001375980] Chr12:47987112 [GRCh38]
Chr12:48380895 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1007G>A (p.Gly336Asp) single nucleotide variant not provided [RCV001378604] Chr12:47992894 [GRCh38]
Chr12:48386677 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.579C>T (p.Gly193=) single nucleotide variant Inborn genetic diseases [RCV004611811]|not provided [RCV001411049] Chr12:47996578 [GRCh38]
Chr12:48390361 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-2A>G single nucleotide variant not provided [RCV001377069] Chr12:47977157 [GRCh38]
Chr12:48370940 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3165+16C>G single nucleotide variant not provided [RCV001401355] Chr12:47977584 [GRCh38]
Chr12:48371367 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3435+7G>A single nucleotide variant not provided [RCV001442850] Chr12:47976805 [GRCh38]
Chr12:48370588 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2518-13C>T single nucleotide variant not provided [RCV001424137] Chr12:47980674 [GRCh38]
Chr12:48374457 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.510del (p.Gly171fs) deletion not provided [RCV001387774] Chr12:47997627 [GRCh38]
Chr12:48391410 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001387776] Chr12:48004321 [GRCh38]
Chr12:48398104 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1528-4T>G single nucleotide variant not provided [RCV001424138] Chr12:47985969 [GRCh38]
Chr12:48379752 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-10C>T single nucleotide variant not provided [RCV001411463] Chr12:47982170 [GRCh38]
Chr12:48375953 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1385del (p.Gly462fs) deletion not provided [RCV001381980] Chr12:47986869 [GRCh38]
Chr12:48380652 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3004-10G>C single nucleotide variant not provided [RCV001431746] Chr12:47978127 [GRCh38]
Chr12:48371910 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3968G>C (p.Cys1323Ser) single nucleotide variant not provided [RCV001391017] Chr12:47974781 [GRCh38]
Chr12:48368564 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3222C>G (p.Gly1074=) single nucleotide variant not provided [RCV001435256] Chr12:47977371 [GRCh38]
Chr12:48371154 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3166-6T>C single nucleotide variant not provided [RCV001398713] Chr12:47977433 [GRCh38]
Chr12:48371216 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.343-7C>G single nucleotide variant not provided [RCV001448132] Chr12:47998071 [GRCh38]
Chr12:48391854 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.709-7T>C single nucleotide variant not provided [RCV001432201] Chr12:47995315 [GRCh38]
Chr12:48389098 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-221G>C single nucleotide variant not provided [RCV001581657] Chr12:47973774 [GRCh38]
Chr12:48367557 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3319G>A (p.Gly1107Arg) single nucleotide variant not provided [RCV001378900] Chr12:47977110 [GRCh38]
Chr12:48370893 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1420-114dup duplication not provided [RCV001708979] Chr12:47986548..47986549 [GRCh38]
Chr12:48380331..48380332 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2033G>A (p.Gly678Glu) single nucleotide variant not provided [RCV001596885] Chr12:47983401 [GRCh38]
Chr12:48377184 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3270_3273delinsCAGCAAGGAGACAAGGAGACAGAG (p.Glu1090fs) indel Stickler syndrome type 1 [RCV001526714] Chr12:47977320..47977323 [GRCh38]
Chr12:48371103..48371106 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1056C>T (p.Pro352=) single nucleotide variant COL2A1-related disorder [RCV004540459]|not provided [RCV001502042] Chr12:47989773 [GRCh38]
Chr12:48383556 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) single nucleotide variant not provided [RCV001597506] Chr12:47979530 [GRCh38]
Chr12:48373313 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1024-50C>T single nucleotide variant not provided [RCV001588062] Chr12:47989855 [GRCh38]
Chr12:48383638 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1377T>C (p.Gly459=) single nucleotide variant not provided [RCV001451008] Chr12:47986877 [GRCh38]
Chr12:48380660 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.292+258G>C single nucleotide variant not provided [RCV001698906] Chr12:47999661 [GRCh38]
Chr12:48393444 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1681-4A>T single nucleotide variant not provided [RCV001473938] Chr12:47985591 [GRCh38]
Chr12:48379374 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2781T>C (p.Gly927=) single nucleotide variant not provided [RCV001499526] Chr12:47978711 [GRCh38]
Chr12:48372494 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1024-202del deletion not provided [RCV001619073] Chr12:47990007 [GRCh38]
Chr12:48383790 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2194-30C>T single nucleotide variant not provided [RCV001713331] Chr12:47982639 [GRCh38]
Chr12:48376422 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2457C>T (p.Gly819=) single nucleotide variant COL2A1-related disorder [RCV004540393]|not provided [RCV001469614] Chr12:47981349 [GRCh38]
Chr12:48375132 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-1G>A single nucleotide variant not provided [RCV001592251] Chr12:47978118 [GRCh38]
Chr12:48371901 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.*235C>T single nucleotide variant not provided [RCV001528043] Chr12:47973172 [GRCh38]
Chr12:48366955 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1407C>T (p.Pro469=) single nucleotide variant not provided [RCV001487366] Chr12:47986847 [GRCh38]
Chr12:48380630 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3516T>G (p.Ser1172=) single nucleotide variant not provided [RCV001487367] Chr12:47976044 [GRCh38]
Chr12:48369827 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.375+16A>G single nucleotide variant not provided [RCV001500418] Chr12:47998016 [GRCh38]
Chr12:48391799 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1068+51G>A single nucleotide variant not provided [RCV001714474] Chr12:47989710 [GRCh38]
Chr12:48383493 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2896-5C>T single nucleotide variant not provided [RCV001478013] Chr12:47978403 [GRCh38]
Chr12:48372186 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.760G>T (p.Asp254Tyr) single nucleotide variant not provided [RCV001589946] Chr12:47995257 [GRCh38]
Chr12:48389040 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1545C>T (p.Arg515=) single nucleotide variant not provided [RCV001501162] Chr12:47985948 [GRCh38]
Chr12:48379731 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.709-20C>T single nucleotide variant not provided [RCV001518534] Chr12:47995328 [GRCh38]
Chr12:48389111 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.485del (p.Gly162fs) deletion not provided [RCV001587645] Chr12:47997652 [GRCh38]
Chr12:48391435 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3598-4G>T single nucleotide variant not provided [RCV001463836] Chr12:47975609 [GRCh38]
Chr12:48369392 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4419C>T (p.Pro1473=) single nucleotide variant Achondrogenesis type II [RCV002501602]|COL2A1-related disorder [RCV004540366]|not provided [RCV001456916] Chr12:47973452 [GRCh38]
Chr12:48367235 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3582C>G (p.Gly1194=) single nucleotide variant not provided [RCV001501638] Chr12:47975978 [GRCh38]
Chr12:48369761 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1016G>A (p.Gly339Asp) single nucleotide variant not provided [RCV001379830] Chr12:47992885 [GRCh38]
Chr12:48386668 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.441A>G (p.Gly147=) single nucleotide variant not provided [RCV001431151] Chr12:47997696 [GRCh38]
Chr12:48391479 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4075-16C>T single nucleotide variant not provided [RCV001456729] Chr12:47974347 [GRCh38]
Chr12:48368130 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2901C>T (p.Ala967=) single nucleotide variant not provided [RCV001468949] Chr12:47978393 [GRCh38]
Chr12:48372176 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.970-5T>C single nucleotide variant not provided [RCV001469561] Chr12:47992936 [GRCh38]
Chr12:48386719 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1409del (p.Lys470fs) deletion not provided [RCV001387972] Chr12:47986845 [GRCh38]
Chr12:48380628 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.709-9T>C single nucleotide variant not provided [RCV001436066] Chr12:47995317 [GRCh38]
Chr12:48389100 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1896T>C (p.Pro632=) single nucleotide variant not provided [RCV001485880] Chr12:47984132 [GRCh38]
Chr12:48377915 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3237T>G (p.Ala1079=) single nucleotide variant not provided [RCV001473451] Chr12:47977356 [GRCh38]
Chr12:48371139 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2625+13G>A single nucleotide variant not provided [RCV001399619] Chr12:47980541 [GRCh38]
Chr12:48374324 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.888C>T (p.Asp296=) single nucleotide variant not provided [RCV001477863] Chr12:47993845 [GRCh38]
Chr12:48387628 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3706C>T (p.Leu1236=) single nucleotide variant COL2A1-related disorder [RCV004533911]|not provided [RCV001504771] Chr12:47975497 [GRCh38]
Chr12:48369280 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) single nucleotide variant COL2A1-related disorder [RCV004540404]|Stickler syndrome type 1 [RCV002286579]|not provided [RCV001473962] Chr12:48000064 [GRCh38]
Chr12:48393847 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.3870C>T (p.His1290=) single nucleotide variant not provided [RCV001459722] Chr12:47975333 [GRCh38]
Chr12:48369116 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.123T>C (p.Tyr41=) single nucleotide variant not provided [RCV001431726] Chr12:48000088 [GRCh38]
Chr12:48393871 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+13C>T single nucleotide variant not provided [RCV001481691] Chr12:47987256 [GRCh38]
Chr12:48381039 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1023+10T>G single nucleotide variant not provided [RCV001469468] Chr12:47992868 [GRCh38]
Chr12:48386651 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-6C>T single nucleotide variant not provided [RCV001406269] Chr12:47993868 [GRCh38]
Chr12:48387651 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2095-8T>C single nucleotide variant not provided [RCV001460730] Chr12:47982954 [GRCh38]
Chr12:48376737 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4254C>T (p.Asp1418=) single nucleotide variant Achondrogenesis type II [RCV002501628]|not provided [RCV001471364] Chr12:47974152 [GRCh38]
Chr12:48367935 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1887+17G>A single nucleotide variant not provided [RCV001488756] Chr12:47984529 [GRCh38]
Chr12:48378312 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4293C>A (p.Tyr1431Ter) single nucleotide variant not provided [RCV001388790] Chr12:47974113 [GRCh38]
Chr12:48367896 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4203C>T (p.Asp1401=) single nucleotide variant not provided [RCV001502577] Chr12:47974203 [GRCh38]
Chr12:48367986 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1214G>A (p.Gly405Asp) single nucleotide variant not provided [RCV001385335] Chr12:47987618 [GRCh38]
Chr12:48381401 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4206A>G (p.Glu1402=) single nucleotide variant not provided [RCV001498645] Chr12:47974200 [GRCh38]
Chr12:48367983 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3047_3056dup (p.Gly1020fs) duplication not provided [RCV001527343] Chr12:47978064..47978065 [GRCh38]
Chr12:48371847..48371848 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.960G>A (p.Pro320=) single nucleotide variant COL2A1-related disorder [RCV004533774]|not provided [RCV001456024] Chr12:47993467 [GRCh38]
Chr12:48387250 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1789G>A (p.Gly597Arg) single nucleotide variant not provided [RCV001376946] Chr12:47985039 [GRCh38]
Chr12:48378822 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2094+1G>C single nucleotide variant Stickler syndrome type 1 [RCV003493854]|not provided [RCV001385790] Chr12:47983092 [GRCh38]
Chr12:48376875 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4119C>T (p.Val1373=) single nucleotide variant not provided [RCV001400463] Chr12:47974287 [GRCh38]
Chr12:48368070 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3996del (p.Lys1333fs) deletion not provided [RCV001384170] Chr12:47974753 [GRCh38]
Chr12:48368536 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2832C>T (p.Pro944=) single nucleotide variant not provided [RCV001398143] Chr12:47978660 [GRCh38]
Chr12:48372443 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3436G>A (p.Gly1146Ser) single nucleotide variant not provided [RCV001378815] Chr12:47976567 [GRCh38]
Chr12:48370350 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3166-2_3166-1del deletion not provided [RCV001377190] Chr12:47977428..47977429 [GRCh38]
Chr12:48371211..48371212 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1996G>A (p.Gly666Arg) single nucleotide variant not provided [RCV001377342] Chr12:47983438 [GRCh38]
Chr12:48377221 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2455G>A (p.Gly819Ser) single nucleotide variant not provided [RCV001379145] Chr12:47981351 [GRCh38]
Chr12:48375134 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2042G>T (p.Gly681Val) single nucleotide variant not provided [RCV001377700] Chr12:47983392 [GRCh38]
Chr12:48377175 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3759C>T (p.Ala1253=) single nucleotide variant not provided [RCV001472175] Chr12:47975444 [GRCh38]
Chr12:48369227 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3623del (p.Pro1208fs) deletion COL2A1-related disorder [RCV004734165]|not provided [RCV001389966] Chr12:47975580 [GRCh38]
Chr12:48369363 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2478_2479del (p.Glu826fs) microsatellite not provided [RCV001389967] Chr12:47980953..47980954 [GRCh38]
Chr12:48374736..48374737 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4014C>T (p.Ser1338=) single nucleotide variant Achondrogenesis type II [RCV002488241]|not provided [RCV001430832] Chr12:47974735 [GRCh38]
Chr12:48368518 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.9C>T (p.Arg3=) single nucleotide variant not provided [RCV001416805] Chr12:48004313 [GRCh38]
Chr12:48398096 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.402dup (p.Gly135fs) duplication not provided [RCV001538980] Chr12:47997897..47997898 [GRCh38]
Chr12:48391680..48391681 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4103C>T (p.Pro1368Leu) single nucleotide variant Inborn genetic diseases [RCV002568927]|not provided [RCV001536928] Chr12:47974303 [GRCh38]
Chr12:48368086 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly) single nucleotide variant Maffucci syndrome [RCV002227902] Chr12:47983723 [GRCh38]
Chr12:48377506 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) single nucleotide variant MASS syndrome [RCV001731208] Chr12:47974813 [GRCh38]
Chr12:48368596 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1887+1G>A single nucleotide variant Stickler syndrome type 1 [RCV001731124] Chr12:47984545 [GRCh38]
Chr12:48378328 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1023+2T>A single nucleotide variant Spondyloperipheral dysplasia [RCV001729973] Chr12:47992876 [GRCh38]
Chr12:48386659 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) single nucleotide variant MASS syndrome [RCV001731209]|not provided [RCV003679066] Chr12:47974736 [GRCh38]
Chr12:48368519 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2453G>C (p.Arg818Pro) single nucleotide variant not provided [RCV001730428] Chr12:47981353 [GRCh38]
Chr12:48375136 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.505C>A (p.Pro169Thr) single nucleotide variant not provided [RCV001732570] Chr12:47997632 [GRCh38]
Chr12:48391415 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1283C>G (p.Ala428Gly) single nucleotide variant not provided [RCV001755241] Chr12:47987160 [GRCh38]
Chr12:48380943 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1058_1068dup (p.Gly357fs) duplication Stickler syndrome type 1 [RCV001730026] Chr12:47989760..47989761 [GRCh38]
Chr12:48383543..48383544 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp) single nucleotide variant not provided [RCV003560890]|not specified [RCV002247095] Chr12:47976548 [GRCh38]
Chr12:48370331 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.4432G>A (p.Gly1478Ser) single nucleotide variant Spondyloperipheral dysplasia [RCV001730092]|not provided [RCV002539786] Chr12:47973439 [GRCh38]
Chr12:48367222 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1544G>A (p.Arg515His) single nucleotide variant not provided [RCV001732281] Chr12:47985949 [GRCh38]
Chr12:48379732 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3814C>T (p.Pro1272Ser) single nucleotide variant not provided [RCV001763391] Chr12:47975389 [GRCh38]
Chr12:48369172 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.569del (p.Lys190fs) deletion Stickler syndrome type 1 [RCV002273253] Chr12:47996588 [GRCh38]
Chr12:48390371 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1528-10G>A single nucleotide variant not provided [RCV001767630] Chr12:47985975 [GRCh38]
Chr12:48379758 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4204G>A (p.Glu1402Lys) single nucleotide variant not provided [RCV001762785] Chr12:47974202 [GRCh38]
Chr12:48367985 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2748CCCTGGTCC[3] (p.Pro922_Ser923insProGlyPro) microsatellite Avascular necrosis of femoral head, primary, 1 [RCV002272655] Chr12:47978726..47978727 [GRCh38]
Chr12:48372509..48372510 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp) single nucleotide variant Stickler syndrome type 1 [RCV002249000] Chr12:47980660 [GRCh38]
Chr12:48374443 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu) single nucleotide variant Stickler syndrome type 1 [RCV002249003] Chr12:47986379 [GRCh38]
Chr12:48380162 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val) single nucleotide variant Stickler syndrome type 1 [RCV002249380] Chr12:47995280 [GRCh38]
Chr12:48389063 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2602C>T (p.Pro868Ser) single nucleotide variant not provided [RCV001763500] Chr12:47980577 [GRCh38]
Chr12:48374360 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1527+4A>C single nucleotide variant not provided [RCV001758520] Chr12:47986332 [GRCh38]
Chr12:48380115 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2939G>C (p.Arg980Thr) single nucleotide variant not provided [RCV001767093] Chr12:47978355 [GRCh38]
Chr12:48372138 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1001G>A (p.Arg334Gln) single nucleotide variant not provided [RCV001764069] Chr12:47992900 [GRCh38]
Chr12:48386683 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.409C>T (p.Arg137Cys) single nucleotide variant not provided [RCV001762933] Chr12:47997891 [GRCh38]
Chr12:48391674 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2462C>T (p.Pro821Leu) single nucleotide variant COL2A1-related disorder [RCV004734250]|not provided [RCV001732959] Chr12:47981344 [GRCh38]
Chr12:48375127 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2632A>G (p.Thr878Ala) single nucleotide variant not provided [RCV001772722] Chr12:47980056 [GRCh38]
Chr12:48373839 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) single nucleotide variant not provided [RCV001772731] Chr12:48000036 [GRCh38]
Chr12:48393819 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2167G>A (p.Gly723Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV001775391]|Type 2 collagenopathy [RCV004594588]|not provided [RCV002034501] Chr12:47982874 [GRCh38]
Chr12:48376657 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2126C>G (p.Ser709Cys) single nucleotide variant not provided [RCV001771310] Chr12:47982915 [GRCh38]
Chr12:48376698 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1969G>T (p.Gly657Cys) single nucleotide variant not provided [RCV001732679] Chr12:47983709 [GRCh38]
Chr12:48377492 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1018G>A (p.Ala340Thr) single nucleotide variant not provided [RCV001732856] Chr12:47992883 [GRCh38]
Chr12:48386666 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4436T>C (p.Val1479Ala) single nucleotide variant Inborn genetic diseases [RCV002539132]|not provided [RCV001767600] Chr12:47973435 [GRCh38]
Chr12:48367218 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4318A>G (p.Lys1440Glu) single nucleotide variant not provided [RCV001752804] Chr12:47973553 [GRCh38]
Chr12:48367336 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4177T>G (p.Cys1393Gly) single nucleotide variant not provided [RCV001763887] Chr12:47974229 [GRCh38]
Chr12:48368012 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.654+4dup duplication Stickler syndrome type 1 [RCV001787259] Chr12:47995870..47995871 [GRCh38]
Chr12:48389653..48389654 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4133T>A (p.Leu1378Gln) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787271] Chr12:47974273 [GRCh38]
Chr12:48368056 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.817-1G>A single nucleotide variant Spondyloperipheral dysplasia [RCV001787273] Chr12:47994048 [GRCh38]
Chr12:48387831 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4074+1G>A single nucleotide variant Stickler syndrome type 1 [RCV001787274]|not provided [RCV002541256] Chr12:47974674 [GRCh38]
Chr12:48368457 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1068+1G>C single nucleotide variant Kniest dysplasia [RCV001787275] Chr12:47989760 [GRCh38]
Chr12:48383543 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1266+5G>C single nucleotide variant Kniest dysplasia [RCV001787281] Chr12:47987264 [GRCh38]
Chr12:48381047 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1175G>A (p.Arg392His) single nucleotide variant not provided [RCV001767192] Chr12:47987657 [GRCh38]
Chr12:48381440 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.35T>C (p.Leu12Pro) single nucleotide variant not provided [RCV001754481] Chr12:48004287 [GRCh38]
Chr12:48398070 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.466G>A (p.Gly156Arg) single nucleotide variant not provided [RCV001768713] Chr12:47997671 [GRCh38]
Chr12:48391454 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2259C>T (p.Gly753=) single nucleotide variant not provided [RCV001766873] Chr12:47982544 [GRCh38]
Chr12:48376327 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4356C>T (p.Tyr1452=) single nucleotide variant not provided [RCV001767714] Chr12:47973515 [GRCh38]
Chr12:48367298 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3770C>A (p.Ala1257Asp) single nucleotide variant not provided [RCV001768862] Chr12:47975433 [GRCh38]
Chr12:48369216 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1031G>A (p.Arg344Gln) single nucleotide variant Inborn genetic diseases [RCV004611862]|not provided [RCV001768888] Chr12:47989798 [GRCh38]
Chr12:48383581 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.953G>T (p.Gly318Val) single nucleotide variant not provided [RCV001768946] Chr12:47993474 [GRCh38]
Chr12:48387257 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs) duplication Kniest dysplasia [RCV001775492] Chr12:47984090..47984091 [GRCh38]
Chr12:48377873..48377874 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1610G>A (p.Gly537Asp) single nucleotide variant not provided [RCV001780547] Chr12:47985798 [GRCh38]
Chr12:48379581 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3305C>T (p.Pro1102Leu) single nucleotide variant not provided [RCV001765170] Chr12:47977124 [GRCh38]
Chr12:48370907 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2257G>A (p.Gly753Ser) single nucleotide variant not provided [RCV001780548] Chr12:47982546 [GRCh38]
Chr12:48376329 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2946C>G (p.Ile982Met) single nucleotide variant not provided [RCV001752575] Chr12:47978348 [GRCh38]
Chr12:48372131 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3652A>G (p.Ile1218Val) single nucleotide variant not provided [RCV002001452] Chr12:47975551 [GRCh38]
Chr12:48369334 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.14G>C (p.Gly5Ala) single nucleotide variant not provided [RCV001774296] Chr12:48004308 [GRCh38]
Chr12:48398091 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser) single nucleotide variant not provided [RCV001761053] Chr12:47983703 [GRCh38]
Chr12:48377486 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.4078A>G (p.Ser1360Gly) single nucleotide variant not provided [RCV001770804] Chr12:47974328 [GRCh38]
Chr12:48368111 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2406G>T (p.Glu802Asp) single nucleotide variant not provided [RCV001774619] Chr12:47981779 [GRCh38]
Chr12:48375562 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser) single nucleotide variant not provided [RCV001774719] Chr12:47978728 [GRCh38]
Chr12:48372511 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2380C>T (p.Pro794Ser) single nucleotide variant not provided [RCV001765829] Chr12:47981805 [GRCh38]
Chr12:48375588 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3568C>T (p.Arg1190Cys) single nucleotide variant COL2A1-related disorder [RCV004542098]|not provided [RCV001733339] Chr12:47975992 [GRCh38]
Chr12:48369775 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV003238537] Chr12:48000117 [GRCh38]
Chr12:48393900 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4018A>G (p.Lys1340Glu) single nucleotide variant Type 2 collagenopathy [RCV001825033]|not provided [RCV001765880] Chr12:47974731 [GRCh38]
Chr12:48368514 [GRCh37]
Chr12:12q13.11		 uncertain significance|not provided
NM_001844.5(COL2A1):c.3656A>G (p.Asp1219Gly) single nucleotide variant not provided [RCV001771356] Chr12:47975547 [GRCh38]
Chr12:48369330 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.342+5G>A single nucleotide variant not provided [RCV001769044] Chr12:47998164 [GRCh38]
Chr12:48391947 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) single nucleotide variant Stickler syndrome type 1 [RCV001814855]|not provided [RCV001869629] Chr12:47977149 [GRCh38]
Chr12:48370932 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2522C>T (p.Ala841Val) single nucleotide variant Spondyloperipheral dysplasia [RCV001771791] Chr12:47980657 [GRCh38]
Chr12:48374440 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.970-8T>G single nucleotide variant Kniest dysplasia [RCV001787276] Chr12:47992939 [GRCh38]
Chr12:48386722 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3463G>C (p.Gly1155Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787265] Chr12:47976540 [GRCh38]
Chr12:48370323 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3589G>C (p.Gly1197Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787267]|not provided [RCV001885207] Chr12:47975971 [GRCh38]
Chr12:48369754 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1195G>A (p.Gly399Arg) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787280]|not provided [RCV003708611] Chr12:47987637 [GRCh38]
Chr12:48381420 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1780G>A (p.Gly594Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV003444064]|Spondyloepiphyseal dysplasia congenita [RCV001787261]|not provided [RCV003679073] Chr12:47985048 [GRCh38]
Chr12:48378831 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2095G>T (p.Gly699Cys) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787262] Chr12:47982946 [GRCh38]
Chr12:48376729 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.4317+1G>T single nucleotide variant Stickler syndrome type 1 [RCV001787272] Chr12:47974088 [GRCh38]
Chr12:48367871 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.980G>T (p.Gly327Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV001787277] Chr12:47992921 [GRCh38]
Chr12:48386704 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4012A>G (p.Ser1338Gly) single nucleotide variant not provided [RCV001795725] Chr12:47974737 [GRCh38]
Chr12:48368520 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.805C>T (p.Pro269Ser) single nucleotide variant not provided [RCV001795735] Chr12:47994435 [GRCh38]
Chr12:48388218 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3950T>C (p.Met1317Thr) single nucleotide variant Inborn genetic diseases [RCV004611869]|not provided [RCV001757193] Chr12:47974799 [GRCh38]
Chr12:48368582 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1122+2T>C single nucleotide variant COL2A1-related disorder [RCV004528538] Chr12:47989226 [GRCh38]
Chr12:48383009 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3491G>A (p.Gly1164Asp) single nucleotide variant COL2A1-related disorder [RCV004536325]|Platyspondylic dysplasia, Torrance type [RCV001808048]|not provided [RCV002541465] Chr12:47976069 [GRCh38]
Chr12:48369852 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2485C>G (p.Pro829Ala) single nucleotide variant not provided [RCV001758343] Chr12:47980947 [GRCh38]
Chr12:48374730 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3597+6T>C single nucleotide variant not provided [RCV001757210] Chr12:47975957 [GRCh38]
Chr12:48369740 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.754G>A (p.Gly252Ser) single nucleotide variant Spondyloperipheral dysplasia [RCV001807960] Chr12:47995263 [GRCh38]
Chr12:48389046 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2719C>T (p.Pro907Ser) single nucleotide variant Stickler syndrome type 1 [RCV001809091] Chr12:47979525 [GRCh38]
Chr12:48373308 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2625+1del deletion Stickler syndrome type 1 [RCV001814910] Chr12:47980553 [GRCh38]
Chr12:48374336 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2419G>A (p.Gly807Arg) single nucleotide variant not provided [RCV001812543] Chr12:47981387 [GRCh38]
Chr12:48375170 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2464-19A>C single nucleotide variant not provided [RCV001812561] Chr12:47980987 [GRCh38]
Chr12:48374770 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1250G>T (p.Gly417Val) single nucleotide variant Kniest dysplasia [RCV001806419] Chr12:47987285 [GRCh38]
Chr12:48381068 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2095G>C (p.Gly699Arg) single nucleotide variant not provided [RCV001815739] Chr12:47982946 [GRCh38]
Chr12:48376729 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) single nucleotide variant Achondrogenesis type II [RCV001808940] Chr12:47987303 [GRCh38]
Chr12:48381086 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1169G>T (p.Gly390Val) single nucleotide variant not provided [RCV001811798] Chr12:47987663 [GRCh38]
Chr12:48381446 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1680+2dup duplication Kniest dysplasia [RCV001806408]|not provided [RCV001869569] Chr12:47985725..47985726 [GRCh38]
Chr12:48379508..48379509 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3960C>T (p.Gly1320=) single nucleotide variant not provided [RCV001889107] Chr12:47974789 [GRCh38]
Chr12:48368572 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.787G>A (p.Ala263Thr) single nucleotide variant not provided [RCV001806552] Chr12:47994453 [GRCh38]
Chr12:48388236 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4415G>A (p.Gly1472Glu) single nucleotide variant not provided [RCV002008392] Chr12:47973456 [GRCh38]
Chr12:48367239 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3326A>C (p.Gln1109Pro) single nucleotide variant not provided [RCV002044831] Chr12:47977103 [GRCh38]
Chr12:48370886 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1887+1G>T single nucleotide variant not provided [RCV001988783] Chr12:47984545 [GRCh38]
Chr12:48378328 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3278C>T (p.Ala1093Val) single nucleotide variant Inborn genetic diseases [RCV004611957]|not provided [RCV001891054] Chr12:47977151 [GRCh38]
Chr12:48370934 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2678del (p.Pro893fs) deletion not provided [RCV001946678] Chr12:47980010 [GRCh38]
Chr12:48373793 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.74G>C (p.Gly25Ala) single nucleotide variant not provided [RCV001894948] Chr12:48004248 [GRCh38]
Chr12:48398031 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4232T>C (p.Leu1411Pro) single nucleotide variant not provided [RCV002008488] Chr12:47974174 [GRCh38]
Chr12:48367957 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3316C>T (p.Arg1106Trp) single nucleotide variant not provided [RCV002025226] Chr12:47977113 [GRCh38]
Chr12:48370896 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.816+6C>T single nucleotide variant COL2A1-related disorder [RCV004538701]|not provided [RCV001971224] Chr12:47994418 [GRCh38]
Chr12:48388201 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.280G>A (p.Ala94Thr) single nucleotide variant not provided [RCV001896702] Chr12:47999931 [GRCh38]
Chr12:48393714 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1043G>A (p.Gly348Asp) single nucleotide variant Kniest dysplasia [RCV002243470]|not provided [RCV002041834] Chr12:47989786 [GRCh38]
Chr12:48383569 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2748CCCTGGTCC[1] (p.914PGP[2]) microsatellite Stickler syndrome type 1 [RCV001822886]|not provided [RCV002511097] Chr12:47978727..47978735 [GRCh38]
Chr12:48372510..48372518 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3802A>G (p.Ser1268Gly) single nucleotide variant not provided [RCV002025230] Chr12:47975401 [GRCh38]
Chr12:48369184 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3507C>T (p.Val1169=) single nucleotide variant not provided [RCV001824530] Chr12:47976053 [GRCh38]
Chr12:48369836 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3637C>A (p.Pro1213Thr) single nucleotide variant not provided [RCV001896731] Chr12:47975566 [GRCh38]
Chr12:48369349 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1231G>A (p.Gly411Arg) single nucleotide variant not provided [RCV001971550] Chr12:47987304 [GRCh38]
Chr12:48381087 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3262A>G (p.Arg1088Gly) single nucleotide variant not provided [RCV001987930] Chr12:47977331 [GRCh38]
Chr12:48371114 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3887-2A>G single nucleotide variant Spondyloperipheral dysplasia [RCV002271681] Chr12:47974864 [GRCh38]
Chr12:48368647 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1348G>A (p.Gly450Ser) single nucleotide variant not provided [RCV001969991] Chr12:47987095 [GRCh38]
Chr12:48380878 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3808del (p.Arg1270fs) deletion not provided [RCV001874366] Chr12:47975395 [GRCh38]
Chr12:48369178 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.430-1G>A single nucleotide variant not provided [RCV001971269] Chr12:47997708 [GRCh38]
Chr12:48391491 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3212G>A (p.Gly1071Glu) single nucleotide variant not provided [RCV002025446] Chr12:47977381 [GRCh38]
Chr12:48371164 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1162G>A (p.Ala388Thr) single nucleotide variant not provided [RCV001988487] Chr12:47987670 [GRCh38]
Chr12:48381453 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1312G>T (p.Gly438Cys) single nucleotide variant not provided [RCV002009434] Chr12:47987131 [GRCh38]
Chr12:48380914 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3117C>A (p.Ser1039Arg) single nucleotide variant not provided [RCV001983546] Chr12:47977648 [GRCh38]
Chr12:48371431 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1009C>T (p.Pro337Ser) single nucleotide variant not provided [RCV001985883] Chr12:47992892 [GRCh38]
Chr12:48386675 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3903C>A (p.Asp1301Glu) single nucleotide variant not provided [RCV002008768] Chr12:47974846 [GRCh38]
Chr12:48368629 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3597+1G>C single nucleotide variant COL2A1-related disorder [RCV004538681]|not provided [RCV002002522] Chr12:47975962 [GRCh38]
Chr12:48369745 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1848A>C (p.Lys616Asn) single nucleotide variant not provided [RCV001892569] Chr12:47984585 [GRCh38]
Chr12:48378368 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1582-8C>A single nucleotide variant not provided [RCV001986152] Chr12:47985834 [GRCh38]
Chr12:48379617 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1995+5del deletion not provided [RCV001874578] Chr12:47983678 [GRCh38]
Chr12:48377461 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3935A>C (p.Lys1312Thr) single nucleotide variant not provided [RCV001914053] Chr12:47974814 [GRCh38]
Chr12:48368597 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2355+12C>T single nucleotide variant not provided [RCV002008977] Chr12:47982095 [GRCh38]
Chr12:48375878 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys) single nucleotide variant not provided [RCV001966943] Chr12:47989787 [GRCh38]
Chr12:48383570 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3994C>T (p.Pro1332Ser) single nucleotide variant not provided [RCV001871043] Chr12:47974755 [GRCh38]
Chr12:48368538 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.917G>A (p.Gly306Asp) single nucleotide variant not provided [RCV001863654] Chr12:47993816 [GRCh38]
Chr12:48387599 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2660G>A (p.Arg887Gln) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002290793]|not provided [RCV001915153] Chr12:47980028 [GRCh38]
Chr12:48373811 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2944A>T (p.Ile982Phe) single nucleotide variant not provided [RCV001894656] Chr12:47978350 [GRCh38]
Chr12:48372133 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.3659T>G (p.Met1220Arg) single nucleotide variant not provided [RCV001971700] Chr12:47975544 [GRCh38]
Chr12:48369327 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2380C>G (p.Pro794Ala) single nucleotide variant not provided [RCV001890737] Chr12:47981805 [GRCh38]
Chr12:48375588 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2435C>T (p.Ala812Val) single nucleotide variant not provided [RCV001970438] Chr12:47981371 [GRCh38]
Chr12:48375154 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.816+4A>C single nucleotide variant not provided [RCV001929353] Chr12:47994420 [GRCh38]
Chr12:48388203 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1253C>A (p.Ala418Asp) single nucleotide variant not provided [RCV002044858] Chr12:47987282 [GRCh38]
Chr12:48381065 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2800G>C (p.Asp934His) single nucleotide variant not provided [RCV001988582] Chr12:47978692 [GRCh38]
Chr12:48372475 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1726G>A (p.Gly576Ser) single nucleotide variant not provided [RCV002040181] Chr12:47985542 [GRCh38]
Chr12:48379325 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2759del (p.Pro920fs) deletion not provided [RCV002021920] Chr12:47978733 [GRCh38]
Chr12:48372516 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3063del (p.Val1022fs) deletion not provided [RCV001872115] Chr12:47978058 [GRCh38]
Chr12:48371841 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2642C>T (p.Thr881Ile) single nucleotide variant not provided [RCV002040106] Chr12:47980046 [GRCh38]
Chr12:48373829 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1960G>A (p.Gly654Ser) single nucleotide variant not provided [RCV002005483] Chr12:47983718 [GRCh38]
Chr12:48377501 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.340G>A (p.Asp114Asn) single nucleotide variant not provided [RCV002006663] Chr12:47998171 [GRCh38]
Chr12:48391954 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2051G>T (p.Gly684Val) single nucleotide variant not provided [RCV002040531] Chr12:47983136 [GRCh38]
Chr12:48376919 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3358G>A (p.Glu1120Lys) single nucleotide variant not provided [RCV001837698] Chr12:47976889 [GRCh38]
Chr12:48370672 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1760del (p.Pro587fs) deletion not provided [RCV001945376] Chr12:47985068 [GRCh38]
Chr12:48378851 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2168G>A (p.Gly723Asp) single nucleotide variant not provided [RCV002020730] Chr12:47982873 [GRCh38]
Chr12:48376656 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1942-2A>G single nucleotide variant not provided [RCV002006494] Chr12:47983738 [GRCh38]
Chr12:48377521 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1123-1G>C single nucleotide variant not provided [RCV002003322] Chr12:47987710 [GRCh38]
Chr12:48381493 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2382T>A (p.Pro794=) single nucleotide variant COL2A1-related disorder [RCV004538576]|not provided [RCV001892770]|not specified [RCV004690156] Chr12:47981803 [GRCh38]
Chr12:48375586 [GRCh37]
Chr12:12q13.11		 benign|likely benign|uncertain significance
NM_001844.5(COL2A1):c.870+4_870+7del microsatellite not provided [RCV001908071] Chr12:47993987..47993990 [GRCh38]
Chr12:48387770..48387773 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2188C>T (p.Pro730Ser) single nucleotide variant not provided [RCV001947233] Chr12:47982853 [GRCh38]
Chr12:48376636 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1523A>G (p.Glu508Gly) single nucleotide variant not provided [RCV002022474] Chr12:47986340 [GRCh38]
Chr12:48380123 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3283G>T (p.Gly1095Cys) single nucleotide variant not provided [RCV001908379] Chr12:47977146 [GRCh38]
Chr12:48370929 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2896-3C>T single nucleotide variant not provided [RCV001908387] Chr12:47978401 [GRCh38]
Chr12:48372184 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV003444066]|Stickler syndrome type 1 [RCV003339826]|not provided [RCV001945651] Chr12:47986350 [GRCh38]
Chr12:48380133 [GRCh37]
Chr12:12q13.11		 likely pathogenic|likely benign|uncertain significance
NM_001844.5(COL2A1):c.498_515del (p.163PPG[2]) deletion not provided [RCV002022514] Chr12:47997622..47997639 [GRCh38]
Chr12:48391405..48391422 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3026C>T (p.Ala1009Val) single nucleotide variant not provided [RCV001985119] Chr12:47978095 [GRCh38]
Chr12:48371878 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) single nucleotide variant not provided [RCV001908791] Chr12:47989772 [GRCh38]
Chr12:48383555 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3365G>A (p.Gly1122Glu) single nucleotide variant not provided [RCV002041602] Chr12:47976882 [GRCh38]
Chr12:48370665 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2193+6T>G single nucleotide variant not provided [RCV001912192] Chr12:47982842 [GRCh38]
Chr12:48376625 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1819C>T (p.Pro607Ser) single nucleotide variant not provided [RCV001968427] Chr12:47985009 [GRCh38]
Chr12:48378792 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.619G>C (p.Gly207Arg) single nucleotide variant not provided [RCV001908812] Chr12:47995910 [GRCh38]
Chr12:48389693 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.85+5G>A single nucleotide variant not provided [RCV002042693] Chr12:48004232 [GRCh38]
Chr12:48398015 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.708+2_708+3del microsatellite not provided [RCV002006361] Chr12:47995707..47995708 [GRCh38]
Chr12:48389490..48389491 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.887A>G (p.Asp296Gly) single nucleotide variant not provided [RCV001967198] Chr12:47993846 [GRCh38]
Chr12:48387629 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.763G>A (p.Gly255Ser) single nucleotide variant not provided [RCV001908313] Chr12:47994477 [GRCh38]
Chr12:48388260 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.3165+1G>T single nucleotide variant not provided [RCV001970092] Chr12:47977599 [GRCh38]
Chr12:48371382 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3637C>T (p.Pro1213Ser) single nucleotide variant COL2A1-related disorder [RCV004542141]|not provided [RCV002039984] Chr12:47975566 [GRCh38]
Chr12:48369349 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.299C>G (p.Pro100Arg) single nucleotide variant not provided [RCV002041606] Chr12:47998425 [GRCh38]
Chr12:48392208 [GRCh37]
Chr12:12q13.11		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_001844.5(COL2A1):c.1365+1G>A single nucleotide variant not provided [RCV002003635] Chr12:47987077 [GRCh38]
Chr12:48380860 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1734+3A>G single nucleotide variant not provided [RCV001909847] Chr12:47985531 [GRCh38]
Chr12:48379314 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4387A>G (p.Ile1463Val) single nucleotide variant not provided [RCV001909923] Chr12:47973484 [GRCh38]
Chr12:48367267 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3892del (p.Tyr1298fs) deletion not provided [RCV001894019] Chr12:47974857 [GRCh38]
Chr12:48368640 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1838A>G (p.Glu613Gly) single nucleotide variant not provided [RCV002041398] Chr12:47984595 [GRCh38]
Chr12:48378378 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3436-1G>A single nucleotide variant Stickler syndrome type 1 [RCV004565180]|not provided [RCV002023134] Chr12:47976568 [GRCh38]
Chr12:48370351 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2245C>T (p.Gln749Ter) single nucleotide variant not provided [RCV001949166] Chr12:47982558 [GRCh38]
Chr12:48376341 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.415G>A (p.Asp139Asn) single nucleotide variant not provided [RCV001983499] Chr12:47997885 [GRCh38]
Chr12:48391668 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.610G>C (p.Gly204Arg) single nucleotide variant not provided [RCV002004108] Chr12:47995919 [GRCh38]
Chr12:48389702 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2604del (p.Ser869fs) deletion not provided [RCV002007519] Chr12:47980575 [GRCh38]
Chr12:48374358 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2029_2030delinsAA (p.Gly677Asn) indel not provided [RCV001969581] Chr12:47983404..47983405 [GRCh38]
Chr12:48377187..48377188 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.542C>T (p.Ala181Val) single nucleotide variant not provided [RCV002041328] Chr12:47996615 [GRCh38]
Chr12:48390398 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.733C>A (p.Pro245Thr) single nucleotide variant not provided [RCV001895380] Chr12:47995284 [GRCh38]
Chr12:48389067 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) single nucleotide variant Achondrogenesis type II [RCV001822977]|COL2A1-related disorder [RCV004728836] Chr12:47982927 [GRCh38]
Chr12:48376710 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1068+4del deletion Spondyloepiphyseal dysplasia, Stanescu type [RCV002052141] Chr12:47989757 [GRCh38]
Chr12:48383540 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.244T>G (p.Phe82Val) single nucleotide variant not provided [RCV002002856] Chr12:47999967 [GRCh38]
Chr12:48393750 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3427G>A (p.Gly1143Ser) single nucleotide variant COL2A1-related disorder [RCV004542134]|not provided [RCV001823335] Chr12:47976820 [GRCh38]
Chr12:48370603 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1435del (p.Gln479fs) deletion not provided [RCV001890391] Chr12:47986428 [GRCh38]
Chr12:48380211 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2754del (p.Pro920fs) deletion not provided [RCV001970046] Chr12:47978738 [GRCh38]
Chr12:48372521 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1132G>C (p.Gly378Arg) single nucleotide variant not provided [RCV001986450] Chr12:47987700 [GRCh38]
Chr12:48381483 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3083C>T (p.Thr1028Met) single nucleotide variant not provided [RCV001970401] Chr12:47978038 [GRCh38]
Chr12:48371821 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu) single nucleotide variant Stickler syndrome type 1 [RCV002246638]|not provided [RCV002003098] Chr12:47980570 [GRCh38]
Chr12:48374353 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1837G>A (p.Glu613Lys) single nucleotide variant not provided [RCV001892135] Chr12:47984596 [GRCh38]
Chr12:48378379 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3715A>G (p.Met1239Val) single nucleotide variant not provided [RCV001965608] Chr12:47975488 [GRCh38]
Chr12:48369271 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.86-7G>A single nucleotide variant not provided [RCV001947855] Chr12:48000132 [GRCh38]
Chr12:48393915 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1972G>A (p.Ala658Thr) single nucleotide variant not provided [RCV001986475] Chr12:47983706 [GRCh38]
Chr12:48377489 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2699del (p.Gly900fs) deletion not provided [RCV001872459] Chr12:47979545 [GRCh38]
Chr12:48373328 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2577dup (p.Ala860fs) duplication not provided [RCV001985364] Chr12:47980601..47980602 [GRCh38]
Chr12:48374384..48374385 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.271A>G (p.Thr91Ala) single nucleotide variant not provided [RCV002041192] Chr12:47999940 [GRCh38]
Chr12:48393723 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1301C>A (p.Pro434His) single nucleotide variant not provided [RCV001894817] Chr12:47987142 [GRCh38]
Chr12:48380925 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.96C>T (p.Gly32=) single nucleotide variant not provided [RCV001871248] Chr12:48000115 [GRCh38]
Chr12:48393898 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1501G>A (p.Gly501Arg) single nucleotide variant COL2A1-related disorder [RCV004728915]|not provided [RCV001893544] Chr12:47986362 [GRCh38]
Chr12:48380145 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1670C>T (p.Pro557Leu) single nucleotide variant not provided [RCV001968243] Chr12:47985738 [GRCh38]
Chr12:48379521 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.715A>G (p.Met239Val) single nucleotide variant not provided [RCV001947403] Chr12:47995302 [GRCh38]
Chr12:48389085 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3721G>A (p.Ala1241Thr) single nucleotide variant not provided [RCV001893975] Chr12:47975482 [GRCh38]
Chr12:48369265 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3700G>A (p.Asp1234Asn) single nucleotide variant not provided [RCV001966994] Chr12:47975503 [GRCh38]
Chr12:48369286 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2215C>T (p.Pro739Ser) single nucleotide variant not provided [RCV001894448] Chr12:47982588 [GRCh38]
Chr12:48376371 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NC_000012.11:g.(?_48367190)_(48398104_?)del deletion not provided [RCV001946630] Chr12:48367190..48398104 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.725G>A (p.Arg242His) single nucleotide variant not provided [RCV001890084] Chr12:47995292 [GRCh38]
Chr12:48389075 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1675G>A (p.Ala559Thr) single nucleotide variant not provided [RCV002004209] Chr12:47985733 [GRCh38]
Chr12:48379516 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1832A>C (p.Asn611Thr) single nucleotide variant not provided [RCV001961794] Chr12:47984996 [GRCh38]
Chr12:48378779 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV001888025] Chr12:47986382 [GRCh38]
Chr12:48380165 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3172C>A (p.Arg1058Ser) single nucleotide variant not provided [RCV001943058] Chr12:47977421 [GRCh38]
Chr12:48371204 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1995+1G>A single nucleotide variant not provided [RCV002037847] Chr12:47983682 [GRCh38]
Chr12:48377465 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3188C>T (p.Ala1063Val) single nucleotide variant not provided [RCV001919066] Chr12:47977405 [GRCh38]
Chr12:48371188 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.580G>A (p.Ala194Thr) single nucleotide variant COL2A1-related disorder [RCV004734378]|Connective tissue disorder [RCV002276972]|not provided [RCV002000324] Chr12:47996577 [GRCh38]
Chr12:48390360 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2711G>A (p.Arg904His) single nucleotide variant not provided [RCV002036664] Chr12:47979533 [GRCh38]
Chr12:48373316 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2137C>T (p.Gln713Ter) single nucleotide variant not provided [RCV002037889] Chr12:47982904 [GRCh38]
Chr12:48376687 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2095-16G>A single nucleotide variant not provided [RCV001931071] Chr12:47982962 [GRCh38]
Chr12:48376745 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1996-1G>C single nucleotide variant not provided [RCV001999748] Chr12:47983439 [GRCh38]
Chr12:48377222 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2094_2094+1dup duplication not provided [RCV002037638] Chr12:47983091..47983092 [GRCh38]
Chr12:48376874..48376875 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2392G>A (p.Gly798Ser) single nucleotide variant not provided [RCV002038912] Chr12:47981793 [GRCh38]
Chr12:48375576 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2068G>A (p.Gly690Arg) single nucleotide variant not provided [RCV001972813] Chr12:47983119 [GRCh38]
Chr12:48376902 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1377dup (p.Ile460fs) duplication not provided [RCV001999828] Chr12:47986876..47986877 [GRCh38]
Chr12:48380659..48380660 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.988G>A (p.Gly330Ser) single nucleotide variant not provided [RCV002038983] Chr12:47992913 [GRCh38]
Chr12:48386696 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3214C>G (p.Pro1072Ala) single nucleotide variant Inborn genetic diseases [RCV004611899]|not provided [RCV001876347] Chr12:47977379 [GRCh38]
Chr12:48371162 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.530G>A (p.Gly177Glu) single nucleotide variant not provided [RCV001933943] Chr12:47997607 [GRCh38]
Chr12:48391390 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3526G>A (p.Gly1176Ser) single nucleotide variant not provided [RCV001882153] Chr12:47976034 [GRCh38]
Chr12:48369817 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2837T>C (p.Leu946Pro) single nucleotide variant not provided [RCV001999641] Chr12:47978655 [GRCh38]
Chr12:48372438 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3598-2A>G single nucleotide variant not provided [RCV001980282] Chr12:47975607 [GRCh38]
Chr12:48369390 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3655G>A (p.Asp1219Asn) single nucleotide variant Stickler syndrome type 1 [RCV003989728]|not provided [RCV001886801] Chr12:47975548 [GRCh38]
Chr12:48369331 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1824_1832del (p.Lys608_Ala610del) deletion not provided [RCV002037216] Chr12:47984996..47985004 [GRCh38]
Chr12:48378779..48378787 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1862G>T (p.Gly621Val) single nucleotide variant not provided [RCV002028504] Chr12:47984571 [GRCh38]
Chr12:48378354 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.281C>T (p.Ala94Val) single nucleotide variant not provided [RCV001903815] Chr12:47999930 [GRCh38]
Chr12:48393713 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3676T>A (p.Leu1226Ile) single nucleotide variant not provided [RCV001961198] Chr12:47975527 [GRCh38]
Chr12:48369310 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1467C>T (p.Gly489=) single nucleotide variant not provided [RCV002000864] Chr12:47986396 [GRCh38]
Chr12:48380179 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1100del (p.Phe367fs) deletion not provided [RCV002035382] Chr12:47989250 [GRCh38]
Chr12:48383033 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.32del (p.Val11fs) deletion not provided [RCV001932796] Chr12:48004290 [GRCh38]
Chr12:48398073 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2050-1G>T single nucleotide variant not provided [RCV001940572] Chr12:47983138 [GRCh38]
Chr12:48376921 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3122del (p.Gly1041fs) deletion not provided [RCV002037782] Chr12:47977643 [GRCh38]
Chr12:48371426 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1180G>A (p.Glu394Lys) single nucleotide variant not provided [RCV002033579] Chr12:47987652 [GRCh38]
Chr12:48381435 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.342+1G>A single nucleotide variant not provided [RCV001956233] Chr12:47998168 [GRCh38]
Chr12:48391951 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2713G>A (p.Val905Ile) single nucleotide variant not provided [RCV001979459] Chr12:47979531 [GRCh38]
Chr12:48373314 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4438G>A (p.Asp1480Asn) single nucleotide variant not provided [RCV002018882] Chr12:47973433 [GRCh38]
Chr12:48367216 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.728G>T (p.Gly243Val) single nucleotide variant not provided [RCV002039129] Chr12:47995289 [GRCh38]
Chr12:48389072 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1364_1365+2dup duplication not provided [RCV002026136] Chr12:47987075..47987076 [GRCh38]
Chr12:48380858..48380859 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4310_4313dup (p.Cys1438fs) duplication not provided [RCV001953691] Chr12:47974092..47974093 [GRCh38]
Chr12:48367875..48367876 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1258G>A (p.Gly420Arg) single nucleotide variant COL2A1-related disorder [RCV004529024]|not provided [RCV002037279] Chr12:47987277 [GRCh38]
Chr12:48381060 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4317+1del deletion not provided [RCV001999992] Chr12:47974088 [GRCh38]
Chr12:48367871 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1570_1574del (p.Ala524fs) deletion not provided [RCV002000085] Chr12:47985919..47985923 [GRCh38]
Chr12:48379702..48379706 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.932G>A (p.Ser311Asn) single nucleotide variant not provided [RCV002038717] Chr12:47993495 [GRCh38]
Chr12:48387278 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2895T>C (p.Ser965=) single nucleotide variant not provided [RCV001876974] Chr12:47978597 [GRCh38]
Chr12:48372380 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1103C>A (p.Pro368His) single nucleotide variant not provided [RCV001917342] Chr12:47989247 [GRCh38]
Chr12:48383030 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2902G>T (p.Glu968Ter) single nucleotide variant not provided [RCV001993183] Chr12:47978392 [GRCh38]
Chr12:48372175 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.430-7T>A single nucleotide variant not provided [RCV001979424] Chr12:47997714 [GRCh38]
Chr12:48391497 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3886+1G>A single nucleotide variant not provided [RCV002000153] Chr12:47975316 [GRCh38]
Chr12:48369099 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3627_3644del (p.1205PGP[2]) deletion not provided [RCV002000154] Chr12:47975559..47975576 [GRCh38]
Chr12:48369342..48369359 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.870+1G>A single nucleotide variant not provided [RCV002000166] Chr12:47993993 [GRCh38]
Chr12:48387776 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3969C>A (p.Cys1323Ter) single nucleotide variant not provided [RCV002037956] Chr12:47974780 [GRCh38]
Chr12:48368563 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2432C>T (p.Pro811Leu) single nucleotide variant not provided [RCV001888355] Chr12:47981374 [GRCh38]
Chr12:48375157 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.346_347insA (p.Val116fs) insertion not provided [RCV002000213] Chr12:47998060..47998061 [GRCh38]
Chr12:48391843..48391844 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2516C>T (p.Pro839Leu) single nucleotide variant not provided [RCV001887573] Chr12:47980916 [GRCh38]
Chr12:48374699 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4317+2T>G single nucleotide variant not provided [RCV001942593] Chr12:47974087 [GRCh38]
Chr12:48367870 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1681-2A>G single nucleotide variant not provided [RCV002010106] Chr12:47985589 [GRCh38]
Chr12:48379372 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NC_000012.12:g.47975611_47976075del deletion not provided [RCV001936427] Chr12:47975595..47976059 [GRCh38]
Chr12:48369378..48369842 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2393_2406del (p.Gly798fs) deletion not provided [RCV001979741] Chr12:47981779..47981792 [GRCh38]
Chr12:48375562..48375575 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2470C>T (p.Arg824Cys) single nucleotide variant not provided [RCV002019038] Chr12:47980962 [GRCh38]
Chr12:48374745 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.267C>A (p.Cys89Ter) single nucleotide variant not provided [RCV001960525] Chr12:47999944 [GRCh38]
Chr12:48393727 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3329G>C (p.Gly1110Ala) single nucleotide variant not provided [RCV002038033] Chr12:47976918 [GRCh38]
Chr12:48370701 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.135T>A (p.Asp45Glu) single nucleotide variant not provided [RCV001887982]|not specified [RCV004526151] Chr12:48000076 [GRCh38]
Chr12:48393859 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3398G>A (p.Arg1133His) single nucleotide variant not provided [RCV002011499] Chr12:47976849 [GRCh38]
Chr12:48370632 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2126C>T (p.Ser709Phe) single nucleotide variant not provided [RCV002031439] Chr12:47982915 [GRCh38]
Chr12:48376698 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4429T>C (p.Phe1477Leu) single nucleotide variant not provided [RCV001937535] Chr12:47973442 [GRCh38]
Chr12:48367225 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1618G>A (p.Gly540Ser) single nucleotide variant not provided [RCV002026787] Chr12:47985790 [GRCh38]
Chr12:48379573 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3978_3979insG (p.Asn1327fs) insertion not provided [RCV001951533] Chr12:47974770..47974771 [GRCh38]
Chr12:48368553..48368554 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.460G>T (p.Glu154Ter) single nucleotide variant not provided [RCV001972568] Chr12:47997677 [GRCh38]
Chr12:48391460 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2498C>T (p.Ala833Val) single nucleotide variant not provided [RCV002029286] Chr12:47980934 [GRCh38]
Chr12:48374717 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1829C>A (p.Ala610Asp) single nucleotide variant not provided [RCV002033400] Chr12:47984999 [GRCh38]
Chr12:48378782 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.3709C>T (p.Gln1237Ter) single nucleotide variant not provided [RCV001975117] Chr12:47975494 [GRCh38]
Chr12:48369277 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1189A>G (p.Thr397Ala) single nucleotide variant not provided [RCV002012806] Chr12:47987643 [GRCh38]
Chr12:48381426 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3002C>T (p.Ser1001Leu) single nucleotide variant not provided [RCV002015577] Chr12:47978292 [GRCh38]
Chr12:48372075 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3075dup (p.Gly1026fs) duplication not provided [RCV001957593] Chr12:47978045..47978046 [GRCh38]
Chr12:48371828..48371829 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2627G>A (p.Gly876Asp) single nucleotide variant not provided [RCV002014379] Chr12:47980061 [GRCh38]
Chr12:48373844 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3328G>C (p.Gly1110Arg) single nucleotide variant not provided [RCV001994450] Chr12:47976919 [GRCh38]
Chr12:48370702 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2675C>T (p.Pro892Leu) single nucleotide variant not provided [RCV001867385] Chr12:47980013 [GRCh38]
Chr12:48373796 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.926G>A (p.Gly309Asp) single nucleotide variant not provided [RCV001976754] Chr12:47993501 [GRCh38]
Chr12:48387284 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1649G>A (p.Arg550His) single nucleotide variant not provided [RCV002048374] Chr12:47985759 [GRCh38]
Chr12:48379542 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3435+83C>G single nucleotide variant not provided [RCV002012002] Chr12:47976729 [GRCh38]
Chr12:48370512 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.211G>A (p.Asp71Asn) single nucleotide variant not provided [RCV001902613] Chr12:48000000 [GRCh38]
Chr12:48393783 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4025del (p.Lys1342fs) deletion not provided [RCV001881165] Chr12:47974724 [GRCh38]
Chr12:48368507 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3647C>G (p.Pro1216Arg) single nucleotide variant not provided [RCV001903279] Chr12:47975556 [GRCh38]
Chr12:48369339 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1522_1523del (p.Glu508fs) microsatellite not provided [RCV001937189] Chr12:47986340..47986341 [GRCh38]
Chr12:48380123..48380124 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.655-2A>C single nucleotide variant not provided [RCV002009662] Chr12:47995765 [GRCh38]
Chr12:48389548 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3598-3C>G single nucleotide variant not provided [RCV001931727] Chr12:47975608 [GRCh38]
Chr12:48369391 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.119G>A (p.Arg40Lys) single nucleotide variant not provided [RCV001876802] Chr12:48000092 [GRCh38]
Chr12:48393875 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4226A>C (p.Lys1409Thr) single nucleotide variant not provided [RCV001881294] Chr12:47974180 [GRCh38]
Chr12:48367963 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.518C>G (p.Pro173Arg) single nucleotide variant not provided [RCV001975855] Chr12:47997619 [GRCh38]
Chr12:48391402 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1067C>T (p.Pro356Leu) single nucleotide variant not provided [RCV002049939] Chr12:47989762 [GRCh38]
Chr12:48383545 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1720A>C (p.Lys574Gln) single nucleotide variant not provided [RCV001930519] Chr12:47985548 [GRCh38]
Chr12:48379331 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4115A>G (p.Asn1372Ser) single nucleotide variant not provided [RCV001881353] Chr12:47974291 [GRCh38]
Chr12:48368074 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.1913C>A (p.Thr638Lys) single nucleotide variant not provided [RCV002050178] Chr12:47984115 [GRCh38]
Chr12:48377898 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2513C>A (p.Pro838His) single nucleotide variant not provided [RCV002046398] Chr12:47980919 [GRCh38]
Chr12:48374702 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3864_3865del (p.Cys1289fs) microsatellite COL2A1-related disorder [RCV004538688]|not provided [RCV001956218] Chr12:47975338..47975339 [GRCh38]
Chr12:48369121..48369122 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.743C>T (p.Pro248Leu) single nucleotide variant not provided [RCV002027949] Chr12:47995274 [GRCh38]
Chr12:48389057 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1675G>T (p.Ala559Ser) single nucleotide variant not provided [RCV001870075] Chr12:47985733 [GRCh38]
Chr12:48379516 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.85+1G>A single nucleotide variant not provided [RCV002012772] Chr12:48004236 [GRCh38]
Chr12:48398019 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2078G>A (p.Gly693Asp) single nucleotide variant not provided [RCV002026662] Chr12:47983109 [GRCh38]
Chr12:48376892 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4074+11G>A single nucleotide variant not provided [RCV002012860] Chr12:47974664 [GRCh38]
Chr12:48368447 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.767A>G (p.Glu256Gly) single nucleotide variant not provided [RCV001930901] Chr12:47994473 [GRCh38]
Chr12:48388256 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4358G>A (p.Arg1453Gln) single nucleotide variant Inborn genetic diseases [RCV004611891]|not provided [RCV002049299] Chr12:47973513 [GRCh38]
Chr12:48367296 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3694G>T (p.Gly1232Cys) single nucleotide variant not provided [RCV001926217] Chr12:47975509 [GRCh38]
Chr12:48369292 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1352C>G (p.Pro451Arg) single nucleotide variant not provided [RCV002030694] Chr12:47987091 [GRCh38]
Chr12:48380874 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2679G>A (p.Pro893=) single nucleotide variant not provided [RCV001933727] Chr12:47980009 [GRCh38]
Chr12:48373792 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2049+5G>A single nucleotide variant not provided [RCV001957665] Chr12:47983380 [GRCh38]
Chr12:48377163 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1757G>A (p.Arg586His) single nucleotide variant Achondrogenesis type II [RCV002482673]|not provided [RCV001881342] Chr12:47985071 [GRCh38]
Chr12:48378854 [GRCh37]
Chr12:12q13.11		 benign|uncertain significance
NM_001844.5(COL2A1):c.3688G>A (p.Glu1230Lys) single nucleotide variant not provided [RCV002032952] Chr12:47975515 [GRCh38]
Chr12:48369298 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2762G>A (p.Gly921Asp) single nucleotide variant not provided [RCV002018884] Chr12:47978730 [GRCh38]
Chr12:48372513 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3950T>A (p.Met1317Lys) single nucleotide variant not provided [RCV002047011] Chr12:47974799 [GRCh38]
Chr12:48368582 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2795G>A (p.Arg932Gln) single nucleotide variant Achondrogenesis type II [RCV002486789]|not provided [RCV002031900] Chr12:47978697 [GRCh38]
Chr12:48372480 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3053C>T (p.Pro1018Leu) single nucleotide variant not provided [RCV002033776] Chr12:47978068 [GRCh38]
Chr12:48371851 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2023G>C (p.Gly675Arg) single nucleotide variant not provided [RCV002013298] Chr12:47983411 [GRCh38]
Chr12:48377194 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3000_3001del (p.Ser1001fs) deletion not provided [RCV001939823] Chr12:47978293..47978294 [GRCh38]
Chr12:48372076..48372077 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3683C>G (p.Pro1228Arg) single nucleotide variant not provided [RCV001931511] Chr12:47975520 [GRCh38]
Chr12:48369303 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1068+5G>A single nucleotide variant not provided [RCV002036309] Chr12:47989756 [GRCh38]
Chr12:48383539 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2858del (p.Pro953fs) deletion Achondrogenesis type II [RCV002497877]|not provided [RCV001950786] Chr12:47978634 [GRCh38]
Chr12:48372417 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3793C>T (p.Gln1265Ter) single nucleotide variant not provided [RCV001876733] Chr12:47975410 [GRCh38]
Chr12:48369193 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2071G>A (p.Ala691Thr) single nucleotide variant not provided [RCV001971832] Chr12:47983116 [GRCh38]
Chr12:48376899 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2463+5G>A single nucleotide variant not provided [RCV001875129] Chr12:47981338 [GRCh38]
Chr12:48375121 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1392A>G (p.Lys464=) single nucleotide variant not provided [RCV001974415] Chr12:47986862 [GRCh38]
Chr12:48380645 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.102T>G (p.Cys34Trp) single nucleotide variant not provided [RCV001995990] Chr12:48000109 [GRCh38]
Chr12:48393892 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.85+5G>T single nucleotide variant not provided [RCV001981398] Chr12:48004232 [GRCh38]
Chr12:48398015 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2999C>T (p.Pro1000Leu) single nucleotide variant not provided [RCV002028708] Chr12:47978295 [GRCh38]
Chr12:48372078 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.733_753del (p.Pro245_Pro251del) deletion not provided [RCV002028759] Chr12:47995264..47995284 [GRCh38]
Chr12:48389047..48389067 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2129C>T (p.Pro710Leu) single nucleotide variant not provided [RCV001977187] Chr12:47982912 [GRCh38]
Chr12:48376695 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.874T>A (p.Tyr292Asn) single nucleotide variant not provided [RCV001925946] Chr12:47993859 [GRCh38]
Chr12:48387642 [GRCh37]
Chr12:12q13.11		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.519dup (p.Gly174fs) duplication not provided [RCV001953638] Chr12:47997617..47997618 [GRCh38]
Chr12:48391400..48391401 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.262A>G (p.Ile88Val) single nucleotide variant COL2A1-related disorder [RCV004529047]|not provided [RCV001921095] Chr12:47999949 [GRCh38]
Chr12:48393732 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.781G>T (p.Gly261Ter) single nucleotide variant not provided [RCV001953866] Chr12:47994459 [GRCh38]
Chr12:48388242 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.589G>A (p.Gly197Arg) single nucleotide variant not provided [RCV001866815] Chr12:47996568 [GRCh38]
Chr12:48390351 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3130G>A (p.Gly1044Ser) single nucleotide variant not provided [RCV002031506] Chr12:47977635 [GRCh38]
Chr12:48371418 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2156G>C (p.Arg719Pro) single nucleotide variant not provided [RCV001996221] Chr12:47982885 [GRCh38]
Chr12:48376668 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3219del (p.Gly1074fs) deletion not provided [RCV002035353] Chr12:47977374 [GRCh38]
Chr12:48371157 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1122+5G>A single nucleotide variant not provided [RCV001870147] Chr12:47989223 [GRCh38]
Chr12:48383006 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.654+1G>A single nucleotide variant not provided [RCV001951352] Chr12:47995874 [GRCh38]
Chr12:48389657 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3257G>A (p.Gly1086Glu) single nucleotide variant not provided [RCV002049151] Chr12:47977336 [GRCh38]
Chr12:48371119 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1699G>A (p.Gly567Ser) single nucleotide variant not provided [RCV002031559] Chr12:47985569 [GRCh38]
Chr12:48379352 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2003C>T (p.Pro668Leu) single nucleotide variant not provided [RCV001976506] Chr12:47983431 [GRCh38]
Chr12:48377214 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.817-2A>C single nucleotide variant not provided [RCV002034006] Chr12:47994049 [GRCh38]
Chr12:48387832 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1738G>T (p.Ala580Ser) single nucleotide variant not provided [RCV001897673] Chr12:47985090 [GRCh38]
Chr12:48378873 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1781G>A (p.Gly594Glu) single nucleotide variant not provided [RCV001956228] Chr12:47985047 [GRCh38]
Chr12:48378830 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3578C>T (p.Ser1193Leu) single nucleotide variant not provided [RCV001922046] Chr12:47975982 [GRCh38]
Chr12:48369765 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3425C>A (p.Pro1142His) single nucleotide variant not provided [RCV001958468] Chr12:47976822 [GRCh38]
Chr12:48370605 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1024-2A>G single nucleotide variant not provided [RCV001939321] Chr12:47989807 [GRCh38]
Chr12:48383590 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2275G>C (p.Gly759Arg) single nucleotide variant Type 2 collagenopathy [RCV002272538]|not provided [RCV001939515] Chr12:47982528 [GRCh38]
Chr12:48376311 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4169C>T (p.Thr1390Ile) single nucleotide variant not provided [RCV001884901] Chr12:47974237 [GRCh38]
Chr12:48368020 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2993C>T (p.Pro998Leu) single nucleotide variant not provided [RCV002017879] Chr12:47978301 [GRCh38]
Chr12:48372084 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2564G>C (p.Gly855Ala) single nucleotide variant not provided [RCV002017441] Chr12:47980615 [GRCh38]
Chr12:48374398 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1621C>T (p.Pro541Ser) single nucleotide variant not provided [RCV001938021] Chr12:47985787 [GRCh38]
Chr12:48379570 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2308G>A (p.Val770Ile) single nucleotide variant not provided [RCV001940473] Chr12:47982154 [GRCh38]
Chr12:48375937 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3216_3234dup (p.Ala1079fs) duplication not provided [RCV001924224] Chr12:47977358..47977359 [GRCh38]
Chr12:48371141..48371142 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1995+1G>T single nucleotide variant COL2A1-related disorder [RCV004529065]|not provided [RCV002035245] Chr12:47983682 [GRCh38]
Chr12:48377465 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1853G>A (p.Gly618Asp) single nucleotide variant not provided [RCV002036219] Chr12:47984580 [GRCh38]
Chr12:48378363 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1419dup (p.Gly474fs) duplication not provided [RCV001904947] Chr12:47986834..47986835 [GRCh38]
Chr12:48380617..48380618 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3970G>A (p.Val1324Ile) single nucleotide variant not provided [RCV002019871] Chr12:47974779 [GRCh38]
Chr12:48368562 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2918_2926del (p.Pro973_Gly975del) deletion not provided [RCV002019133] Chr12:47978368..47978376 [GRCh38]
Chr12:48372151..48372159 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2219del (p.Pro740fs) deletion Stickler syndrome type 1 [RCV002243492]|not provided [RCV001960634] Chr12:47982584 [GRCh38]
Chr12:48376367 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.492del (p.Gly165fs) deletion not provided [RCV001950795] Chr12:47997645 [GRCh38]
Chr12:48391428 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2048A>G (p.Gln683Arg) single nucleotide variant not provided [RCV001955436] Chr12:47983386 [GRCh38]
Chr12:48377169 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47983439del deletion not provided [RCV001960509] Chr12:47983437 [GRCh38]
Chr12:48377220 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4328G>A (p.Gly1443Asp) single nucleotide variant not provided [RCV002019569] Chr12:47973543 [GRCh38]
Chr12:48367326 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.237G>C (p.Glu79Asp) single nucleotide variant not provided [RCV002036595] Chr12:47999974 [GRCh38]
Chr12:48393757 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4414G>T (p.Gly1472Trp) single nucleotide variant not provided [RCV002009541] Chr12:47973457 [GRCh38]
Chr12:48367240 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3149G>T (p.Gly1050Val) single nucleotide variant not provided [RCV002047001] Chr12:47977616 [GRCh38]
Chr12:48371399 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4027_4029del (p.Glu1343del) deletion not provided [RCV002027127] Chr12:47974720..47974722 [GRCh38]
Chr12:48368503..48368505 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1279A>G (p.Ile427Val) single nucleotide variant not provided [RCV002047912] Chr12:47987164 [GRCh38]
Chr12:48380947 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2178C>T (p.Gly726=) single nucleotide variant not provided [RCV001870340] Chr12:47982863 [GRCh38]
Chr12:48376646 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2305_2309del (p.Asp769fs) deletion not provided [RCV001921253] Chr12:47982153..47982157 [GRCh38]
Chr12:48375936..48375940 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1142G>C (p.Gly381Ala) single nucleotide variant not provided [RCV001988889] Chr12:47987690 [GRCh38]
Chr12:48381473 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.166G>A (p.Val56Ile) single nucleotide variant not provided [RCV002009663] Chr12:48000045 [GRCh38]
Chr12:48393828 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3353A>G (p.Lys1118Arg) single nucleotide variant not provided [RCV001877418] Chr12:47976894 [GRCh38]
Chr12:48370677 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3234dup (p.Ala1079fs) duplication not provided [RCV001954654] Chr12:47977358..47977359 [GRCh38]
Chr12:48371141..48371142 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2822C>T (p.Ala941Val) single nucleotide variant not provided [RCV001864774] Chr12:47978670 [GRCh38]
Chr12:48372453 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.835G>T (p.Gly279Ter) single nucleotide variant not provided [RCV001956498] Chr12:47994029 [GRCh38]
Chr12:48387812 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3831del (p.Asn1278fs) deletion not provided [RCV001881114] Chr12:47975372 [GRCh38]
Chr12:48369155 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1241G>T (p.Gly414Val) single nucleotide variant not provided [RCV001951060] Chr12:47987294 [GRCh38]
Chr12:48381077 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3882G>T (p.Lys1294Asn) single nucleotide variant not provided [RCV001975743] Chr12:47975321 [GRCh38]
Chr12:48369104 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2007_2015del (p.670PPG[1]) deletion not provided [RCV002009637] Chr12:47983419..47983427 [GRCh38]
Chr12:48377202..48377210 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3582C>T (p.Gly1194=) single nucleotide variant not provided [RCV002029858] Chr12:47975978 [GRCh38]
Chr12:48369761 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2626-2A>T single nucleotide variant not provided [RCV002046277] Chr12:47980064 [GRCh38]
Chr12:48373847 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1703del (p.Asp568fs) deletion not provided [RCV001994663] Chr12:47985565 [GRCh38]
Chr12:48379348 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1990T>C (p.Phe664Leu) single nucleotide variant not provided [RCV002029250] Chr12:47983688 [GRCh38]
Chr12:48377471 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1365+2dup duplication not provided [RCV001991969] Chr12:47987075..47987076 [GRCh38]
Chr12:48380858..48380859 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.416A>G (p.Asp139Gly) single nucleotide variant not provided [RCV001880524] Chr12:47997884 [GRCh38]
Chr12:48391667 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2063A>G (p.Glu688Gly) single nucleotide variant not provided [RCV001989279] Chr12:47983124 [GRCh38]
Chr12:48376907 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4024A>G (p.Lys1342Glu) single nucleotide variant not provided [RCV001992952] Chr12:47974725 [GRCh38]
Chr12:48368508 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1104_1105del (p.Gly369fs) deletion not provided [RCV001921764] Chr12:47989245..47989246 [GRCh38]
Chr12:48383028..48383029 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1630G>A (p.Ala544Thr) single nucleotide variant not provided [RCV001979248] Chr12:47985778 [GRCh38]
Chr12:48379561 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2679+3G>A single nucleotide variant not provided [RCV001883116] Chr12:47980006 [GRCh38]
Chr12:48373789 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2989_2997del (p.Leu997_Gly999del) deletion not provided [RCV001877028] Chr12:47978297..47978305 [GRCh38]
Chr12:48372080..48372088 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2921A>G (p.Gln974Arg) single nucleotide variant not provided [RCV001990592] Chr12:47978373 [GRCh38]
Chr12:48372156 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.4444G>A (p.Gly1482Arg) single nucleotide variant Inborn genetic diseases [RCV003264172]|not provided [RCV001921868] Chr12:47973427 [GRCh38]
Chr12:48367210 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.11:g.(?_48368049)_(48371518_?)del deletion not provided [RCV001956137] Chr12:48368049..48371518 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.538G>A (p.Ala180Thr) single nucleotide variant not provided [RCV001883411] Chr12:47996619 [GRCh38]
Chr12:48390402 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3654C>T (p.Ile1218=) single nucleotide variant not provided [RCV002148286] Chr12:47975549 [GRCh38]
Chr12:48369332 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-6C>T single nucleotide variant not provided [RCV002170594] Chr12:47973559 [GRCh38]
Chr12:48367342 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1735-15T>C single nucleotide variant not provided [RCV002088587] Chr12:47985108 [GRCh38]
Chr12:48378891 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2517+16C>T single nucleotide variant not provided [RCV002109978] Chr12:47980899 [GRCh38]
Chr12:48374682 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1222-9C>T single nucleotide variant not provided [RCV002145524] Chr12:47987322 [GRCh38]
Chr12:48381105 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV002168458] Chr12:48004285 [GRCh38]
Chr12:48398068 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.474T>C (p.Pro158=) single nucleotide variant not provided [RCV002206959] Chr12:47997663 [GRCh38]
Chr12:48391446 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-17G>A single nucleotide variant not provided [RCV002089194] Chr12:47978775 [GRCh38]
Chr12:48372558 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.744T>G (p.Pro248=) single nucleotide variant not provided [RCV002125835] Chr12:47995273 [GRCh38]
Chr12:48389056 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.816+7G>A single nucleotide variant not provided [RCV002147463] Chr12:47994417 [GRCh38]
Chr12:48388200 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.86-14C>A single nucleotide variant not provided [RCV002148815] Chr12:48000139 [GRCh38]
Chr12:48393922 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+17C>T single nucleotide variant not provided [RCV002185098] Chr12:48004220 [GRCh38]
Chr12:48398003 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2586C>T (p.Ala862=) single nucleotide variant not provided [RCV002208965] Chr12:47980593 [GRCh38]
Chr12:48374376 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1366-17C>T single nucleotide variant not provided [RCV002124350] Chr12:47986905 [GRCh38]
Chr12:48380688 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2679+9G>T single nucleotide variant not provided [RCV002092603]|not specified [RCV004699660] Chr12:47980000 [GRCh38]
Chr12:48373783 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2478G>A (p.Glu826=) single nucleotide variant not provided [RCV002086869] Chr12:47980954 [GRCh38]
Chr12:48374737 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-19TC[7] microsatellite not provided [RCV002107606] Chr12:47994484..47994485 [GRCh38]
Chr12:48388267..48388268 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-5T>A single nucleotide variant not provided [RCV002165689] Chr12:47994482 [GRCh38]
Chr12:48388265 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.512del (p.Gly171fs) deletion Stickler syndrome type 1 [RCV002471716] Chr12:47997625 [GRCh38]
Chr12:48391408 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1941+17C>G single nucleotide variant not provided [RCV002128242] Chr12:47984070 [GRCh38]
Chr12:48377853 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1122+15G>T single nucleotide variant not provided [RCV002206651] Chr12:47989213 [GRCh38]
Chr12:48382996 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.870+20A>T single nucleotide variant not provided [RCV002076291] Chr12:47993974 [GRCh38]
Chr12:48387757 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.972T>G (p.Gly324=) single nucleotide variant not provided [RCV002092224] Chr12:47992929 [GRCh38]
Chr12:48386712 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2733+16G>C single nucleotide variant not provided [RCV002130802] Chr12:47979495 [GRCh38]
Chr12:48373278 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3598-6C>G single nucleotide variant not provided [RCV002092444] Chr12:47975611 [GRCh38]
Chr12:48369394 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.376-18C>T single nucleotide variant not provided [RCV002086504] Chr12:47997942 [GRCh38]
Chr12:48391725 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1581+20C>G single nucleotide variant not provided [RCV002148933] Chr12:47985892 [GRCh38]
Chr12:48379675 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His) single nucleotide variant Stickler syndrome type 1 [RCV002249377] Chr12:47974235 [GRCh38]
Chr12:48368018 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3327+17C>G single nucleotide variant not provided [RCV002145462] Chr12:47977085 [GRCh38]
Chr12:48370868 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1023+19C>T single nucleotide variant not provided [RCV002207511] Chr12:47992859 [GRCh38]
Chr12:48386642 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1888-14del deletion not provided [RCV002087579] Chr12:47984154 [GRCh38]
Chr12:48377937 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1266+14G>A single nucleotide variant not provided [RCV002086594] Chr12:47987255 [GRCh38]
Chr12:48381038 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1734+4del deletion Spondyloepiphyseal dysplasia, Stanescu type [RCV002226954] Chr12:47985530 [GRCh38]
Chr12:48379313 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.48C>T (p.Leu16=) single nucleotide variant not provided [RCV002127535] Chr12:48004274 [GRCh38]
Chr12:48398057 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1977T>C (p.Pro659=) single nucleotide variant not provided [RCV002168694] Chr12:47983701 [GRCh38]
Chr12:48377484 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.342+19C>T single nucleotide variant not provided [RCV002165697] Chr12:47998150 [GRCh38]
Chr12:48391933 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3123T>G (p.Gly1041=) single nucleotide variant not provided [RCV002187659] Chr12:47977642 [GRCh38]
Chr12:48371425 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2626-19C>T single nucleotide variant not provided [RCV002089759] Chr12:47980081 [GRCh38]
Chr12:48373864 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-17C>T single nucleotide variant not provided [RCV002106781] Chr12:47973570 [GRCh38]
Chr12:48367353 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter) single nucleotide variant Stickler syndrome type 1 [RCV002471749] Chr12:47987277 [GRCh38]
Chr12:48381060 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2577T>C (p.Asp859=) single nucleotide variant not provided [RCV002085818] Chr12:47980602 [GRCh38]
Chr12:48374385 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.489C>T (p.Pro163=) single nucleotide variant not provided [RCV002165298] Chr12:47997648 [GRCh38]
Chr12:48391431 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.738T>C (p.Gly246=) single nucleotide variant not provided [RCV002090040] Chr12:47995279 [GRCh38]
Chr12:48389062 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2193+16T>C single nucleotide variant not provided [RCV002092402] Chr12:47982832 [GRCh38]
Chr12:48376615 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2463+15del deletion not provided [RCV002090161] Chr12:47981328 [GRCh38]
Chr12:48375111 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3555G>C (p.Gly1185=) single nucleotide variant not provided [RCV002092134] Chr12:47976005 [GRCh38]
Chr12:48369788 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+19C>G single nucleotide variant not provided [RCV002073554] Chr12:47997587 [GRCh38]
Chr12:48391370 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1941+12C>T single nucleotide variant not provided [RCV002153489] Chr12:47984075 [GRCh38]
Chr12:48377858 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+10G>A single nucleotide variant not provided [RCV002086156] Chr12:47987259 [GRCh38]
Chr12:48381042 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1683T>A (p.Gly561=) single nucleotide variant not provided [RCV002087729] Chr12:47985585 [GRCh38]
Chr12:48379368 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.430-12C>T single nucleotide variant not provided [RCV002089253] Chr12:47997719 [GRCh38]
Chr12:48391502 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2373T>C (p.Ile791=) single nucleotide variant not provided [RCV002078470] Chr12:47981812 [GRCh38]
Chr12:48375595 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-18C>T single nucleotide variant Achondrogenesis type II [RCV002494351]|not provided [RCV002086628] Chr12:47978776 [GRCh38]
Chr12:48372559 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+11C>T single nucleotide variant not provided [RCV002206187] Chr12:48004226 [GRCh38]
Chr12:48398009 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1069-16C>T single nucleotide variant COL2A1-related disorder [RCV004531305]|not provided [RCV002212168] Chr12:47989297 [GRCh38]
Chr12:48383080 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-4C>G single nucleotide variant not provided [RCV002080576] Chr12:47973557 [GRCh38]
Chr12:48367340 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3474T>C (p.Gly1158=) single nucleotide variant not provided [RCV002213173] Chr12:47976529 [GRCh38]
Chr12:48370312 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1527+18G>C single nucleotide variant not provided [RCV002093877] Chr12:47986318 [GRCh38]
Chr12:48380101 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+17C>T single nucleotide variant not provided [RCV002093895] Chr12:47977993 [GRCh38]
Chr12:48371776 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-4C>A single nucleotide variant not provided [RCV002193569] Chr12:47978121 [GRCh38]
Chr12:48371904 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.816+12C>G single nucleotide variant not provided [RCV002130745] Chr12:47994412 [GRCh38]
Chr12:48388195 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2142C>T (p.Gly714=) single nucleotide variant not provided [RCV002151223] Chr12:47982899 [GRCh38]
Chr12:48376682 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2194-5C>T single nucleotide variant not provided [RCV002194188] Chr12:47982614 [GRCh38]
Chr12:48376397 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-6C>T single nucleotide variant not provided [RCV002194191] Chr12:47978123 [GRCh38]
Chr12:48371906 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.564T>C (p.Asp188=) single nucleotide variant not provided [RCV002188687] Chr12:47996593 [GRCh38]
Chr12:48390376 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2895+10T>C single nucleotide variant not provided [RCV002173974] Chr12:47978587 [GRCh38]
Chr12:48372370 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2518-8C>T single nucleotide variant not provided [RCV002087223] Chr12:47980669 [GRCh38]
Chr12:48374452 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.192C>T (p.Cys64=) single nucleotide variant not provided [RCV002126564] Chr12:48000019 [GRCh38]
Chr12:48393802 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1527+10dup duplication not provided [RCV002172813] Chr12:47986325..47986326 [GRCh38]
Chr12:48380108..48380109 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4239C>T (p.Ile1413=) single nucleotide variant not provided [RCV002080811] Chr12:47974167 [GRCh38]
Chr12:48367950 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2680-14C>T single nucleotide variant not provided [RCV002115102] Chr12:47979578 [GRCh38]
Chr12:48373361 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2436A>G (p.Ala812=) single nucleotide variant not provided [RCV002090258] Chr12:47981370 [GRCh38]
Chr12:48375153 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.762+8T>C single nucleotide variant not provided [RCV002073834] Chr12:47995247 [GRCh38]
Chr12:48389030 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.972T>C (p.Gly324=) single nucleotide variant not provided [RCV002075837] Chr12:47992929 [GRCh38]
Chr12:48386712 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1443C>A (p.Ala481=) single nucleotide variant not provided [RCV002078961] Chr12:47986420 [GRCh38]
Chr12:48380203 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3792C>T (p.Asn1264=) single nucleotide variant not provided [RCV002168220] Chr12:47975411 [GRCh38]
Chr12:48369194 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1002G>A (p.Arg334=) single nucleotide variant not provided [RCV002094703] Chr12:47992899 [GRCh38]
Chr12:48386682 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3873T>C (p.Pro1291=) single nucleotide variant not provided [RCV002215255] Chr12:47975330 [GRCh38]
Chr12:48369113 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2523T>C (p.Ala841=) single nucleotide variant not provided [RCV002213350] Chr12:47980656 [GRCh38]
Chr12:48374439 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-12C>T single nucleotide variant not provided [RCV002195690] Chr12:47993874 [GRCh38]
Chr12:48387657 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.375+10G>A single nucleotide variant not provided [RCV002173488] Chr12:47998022 [GRCh38]
Chr12:48391805 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+5G>A single nucleotide variant Achondrogenesis type II [RCV002496145]|not provided [RCV002210967] Chr12:47978005 [GRCh38]
Chr12:48371788 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1024-15C>T single nucleotide variant not provided [RCV002172180] Chr12:47989820 [GRCh38]
Chr12:48383603 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.816+12C>T single nucleotide variant not provided [RCV002196572] Chr12:47994412 [GRCh38]
Chr12:48388195 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3213G>A (p.Gly1071=) single nucleotide variant not provided [RCV002114509] Chr12:47977380 [GRCh38]
Chr12:48371163 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.654+5G>T single nucleotide variant not provided [RCV002211218] Chr12:47995870 [GRCh38]
Chr12:48389653 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2049+12G>A single nucleotide variant not provided [RCV002092678] Chr12:47983373 [GRCh38]
Chr12:48377156 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2355+11G>T single nucleotide variant not provided [RCV002173617] Chr12:47982096 [GRCh38]
Chr12:48375879 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.310-19T>G single nucleotide variant not provided [RCV002134310] Chr12:47998220 [GRCh38]
Chr12:48392003 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1224T>A (p.Gly408=) single nucleotide variant not provided [RCV002169131] Chr12:47987311 [GRCh38]
Chr12:48381094 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1698T>C (p.Pro566=) single nucleotide variant not provided [RCV002094779] Chr12:47985570 [GRCh38]
Chr12:48379353 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2095-15G>A single nucleotide variant not provided [RCV002144999] Chr12:47982961 [GRCh38]
Chr12:48376744 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3999G>A (p.Lys1333=) single nucleotide variant not provided [RCV002193704] Chr12:47974750 [GRCh38]
Chr12:48368533 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-14C>T single nucleotide variant not provided [RCV002186499] Chr12:47977169 [GRCh38]
Chr12:48370952 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1834-15C>G single nucleotide variant not provided [RCV002087288] Chr12:47984614 [GRCh38]
Chr12:48378397 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2928G>A (p.Leu976=) single nucleotide variant not provided [RCV002215617] Chr12:47978366 [GRCh38]
Chr12:48372149 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.375+13G>A single nucleotide variant not provided [RCV002188947] Chr12:47998019 [GRCh38]
Chr12:48391802 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3598-14G>A single nucleotide variant not provided [RCV002153115] Chr12:47975619 [GRCh38]
Chr12:48369402 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2214C>G (p.Gly738=) single nucleotide variant not provided [RCV002207208] Chr12:47982589 [GRCh38]
Chr12:48376372 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2410-19C>A single nucleotide variant not provided [RCV002132192] Chr12:47981415 [GRCh38]
Chr12:48375198 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.871-13T>C single nucleotide variant not provided [RCV002097101] Chr12:47993875 [GRCh38]
Chr12:48387658 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1833+18C>G single nucleotide variant not provided [RCV002131209] Chr12:47984977 [GRCh38]
Chr12:48378760 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1230T>G (p.Pro410=) single nucleotide variant not provided [RCV002079781] Chr12:47987305 [GRCh38]
Chr12:48381088 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1222-15T>C single nucleotide variant not provided [RCV002113795] Chr12:47987328 [GRCh38]
Chr12:48381111 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.840C>G (p.Thr280=) single nucleotide variant not provided [RCV002134843] Chr12:47994024 [GRCh38]
Chr12:48387807 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3718C>A (p.Arg1240=) single nucleotide variant not provided [RCV002197052] Chr12:47975485 [GRCh38]
Chr12:48369268 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.348A>G (p.Val116=) single nucleotide variant not provided [RCV002190803] Chr12:47998059 [GRCh38]
Chr12:48391842 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1528-16C>T single nucleotide variant not provided [RCV002193589] Chr12:47985981 [GRCh38]
Chr12:48379764 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2622T>A (p.Pro874=) single nucleotide variant not provided [RCV002114397] Chr12:47980557 [GRCh38]
Chr12:48374340 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3489+19G>A single nucleotide variant not provided [RCV002197783] Chr12:47976495 [GRCh38]
Chr12:48370278 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-12C>T single nucleotide variant not provided [RCV002197972] Chr12:47978129 [GRCh38]
Chr12:48371912 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3684G>A (p.Pro1228=) single nucleotide variant not provided [RCV002135771] Chr12:47975519 [GRCh38]
Chr12:48369302 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.970-19G>A single nucleotide variant not provided [RCV002098256] Chr12:47992950 [GRCh38]
Chr12:48386733 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.86-11C>A single nucleotide variant not provided [RCV002221084] Chr12:48000136 [GRCh38]
Chr12:48393919 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+17_85+18insGCTG insertion not provided [RCV002102312] Chr12:48004219..48004220 [GRCh38]
Chr12:48398002..48398003 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del) deletion Stickler syndrome type 1 [RCV002249001] Chr12:47985733..47985750 [GRCh38]
Chr12:48379516..48379533 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp) single nucleotide variant Stickler syndrome type 1 [RCV002249002] Chr12:47985762 [GRCh38]
Chr12:48379545 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.610-16_610-15del deletion not provided [RCV002098664] Chr12:47995934..47995935 [GRCh38]
Chr12:48389717..48389718 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4075-15T>C single nucleotide variant not provided [RCV002198577] Chr12:47974346 [GRCh38]
Chr12:48368129 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2517+19C>A single nucleotide variant not provided [RCV002136233] Chr12:47980896 [GRCh38]
Chr12:48374679 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg) single nucleotide variant Stickler syndrome type 1 [RCV002249379] Chr12:47986371 [GRCh38]
Chr12:48380154 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2733+10G>A single nucleotide variant not provided [RCV002200542] Chr12:47979501 [GRCh38]
Chr12:48373284 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4231C>T (p.Leu1411=) single nucleotide variant not provided [RCV002204356] Chr12:47974175 [GRCh38]
Chr12:48367958 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+20A>G single nucleotide variant not provided [RCV002082353] Chr12:47974655 [GRCh38]
Chr12:48368438 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3207C>G (p.Ala1069=) single nucleotide variant not provided [RCV002181935] Chr12:47977386 [GRCh38]
Chr12:48371169 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3489+8A>G single nucleotide variant not provided [RCV002176249] Chr12:47976506 [GRCh38]
Chr12:48370289 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3334C>T (p.Gln1112Ter) single nucleotide variant not provided [RCV002221741]   pathogenic
NM_001844.5(COL2A1):c.871-15T>G single nucleotide variant not provided [RCV002176343] Chr12:47993877 [GRCh38]
Chr12:48387660 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2625+10G>A single nucleotide variant not provided [RCV002155070] Chr12:47980544 [GRCh38]
Chr12:48374327 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1582-4G>A single nucleotide variant not provided [RCV002217771] Chr12:47985830 [GRCh38]
Chr12:48379613 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3107G>A (p.Arg1036Gln) single nucleotide variant not provided [RCV002158903] Chr12:47978014 [GRCh38]
Chr12:48371797 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.2376C>T (p.Gly792=) single nucleotide variant not provided [RCV002103291] Chr12:47981809 [GRCh38]
Chr12:48375592 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4075-17G>A single nucleotide variant not provided [RCV002142647] Chr12:47974348 [GRCh38]
Chr12:48368131 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1834-18G>A single nucleotide variant not provided [RCV002144293] Chr12:47984617 [GRCh38]
Chr12:48378400 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2451T>C (p.Ala817=) single nucleotide variant not provided [RCV002178847] Chr12:47981355 [GRCh38]
Chr12:48375138 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.906G>A (p.Ala302=) single nucleotide variant not provided [RCV002103815] Chr12:47993827 [GRCh38]
Chr12:48387610 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2058C>T (p.Pro686=) single nucleotide variant not provided [RCV002159822] Chr12:47983129 [GRCh38]
Chr12:48376912 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3117C>T (p.Ser1039=) single nucleotide variant not provided [RCV002155958] Chr12:47977648 [GRCh38]
Chr12:48371431 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1996-8G>T single nucleotide variant not provided [RCV002123552] Chr12:47983446 [GRCh38]
Chr12:48377229 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2826T>C (p.Gly942=) single nucleotide variant not provided [RCV002216758] Chr12:47978666 [GRCh38]
Chr12:48372449 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3165+14G>A single nucleotide variant not provided [RCV002158139] Chr12:47977586 [GRCh38]
Chr12:48371369 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1995+13A>G single nucleotide variant not provided [RCV002200225] Chr12:47983670 [GRCh38]
Chr12:48377453 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1758T>C (p.Arg586=) single nucleotide variant not provided [RCV002163720] Chr12:47985070 [GRCh38]
Chr12:48378853 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-11T>C single nucleotide variant not provided [RCV002084189] Chr12:47993873 [GRCh38]
Chr12:48387656 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1353G>A (p.Pro451=) single nucleotide variant not provided [RCV002176148] Chr12:47987090 [GRCh38]
Chr12:48380873 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1573G>A (p.Gly525Ser) single nucleotide variant Achondrogenesis type II [RCV002222289] Chr12:47985920 [GRCh38]
Chr12:48379703 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.970-13G>T single nucleotide variant not provided [RCV002164391] Chr12:47992944 [GRCh38]
Chr12:48386727 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1439G>A (p.Gly480Glu) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV002251183]|not provided [RCV003094084] Chr12:47986424 [GRCh38]
Chr12:48380207 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.655-18C>A single nucleotide variant not provided [RCV002142409] Chr12:47995781 [GRCh38]
Chr12:48389564 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1122+19A>G single nucleotide variant not provided [RCV002142487] Chr12:47989209 [GRCh38]
Chr12:48382992 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1122+12G>T single nucleotide variant not provided [RCV002176971] Chr12:47989216 [GRCh38]
Chr12:48382999 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.430-19T>C single nucleotide variant not provided [RCV002137195] Chr12:47997726 [GRCh38]
Chr12:48391509 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3598-16_3598-15insGAT insertion not provided [RCV002101645] Chr12:47975620..47975621 [GRCh38]
Chr12:48369403..48369404 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.948G>A (p.Glu316=) single nucleotide variant not provided [RCV002159236] Chr12:47993479 [GRCh38]
Chr12:48387262 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-20A>C single nucleotide variant not provided [RCV002121444] Chr12:47994497 [GRCh38]
Chr12:48388280 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3600T>G (p.Gly1200=) single nucleotide variant not provided [RCV002203180] Chr12:47975603 [GRCh38]
Chr12:48369386 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2626-15C>T single nucleotide variant not provided [RCV002203429] Chr12:47980077 [GRCh38]
Chr12:48373860 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-5C>T single nucleotide variant not provided [RCV002220744] Chr12:47993867 [GRCh38]
Chr12:48387650 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.654+12C>T single nucleotide variant not provided [RCV002102355] Chr12:47995863 [GRCh38]
Chr12:48389646 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2049+8T>C single nucleotide variant not provided [RCV002179595] Chr12:47983377 [GRCh38]
Chr12:48377160 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2490C>A (p.Pro830=) single nucleotide variant not provided [RCV002220864] Chr12:47980942 [GRCh38]
Chr12:48374725 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-12C>T single nucleotide variant not provided [RCV002136210] Chr12:47982172 [GRCh38]
Chr12:48375955 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2409+13T>A single nucleotide variant not provided [RCV002176048] Chr12:47981763 [GRCh38]
Chr12:48375546 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1221+12T>G single nucleotide variant not provided [RCV002138044] Chr12:47987599 [GRCh38]
Chr12:48381382 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-16_4318-14del deletion not provided [RCV002203796] Chr12:47973567..47973569 [GRCh38]
Chr12:48367350..48367352 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.876T>C (p.Tyr292=) single nucleotide variant not provided [RCV002136512] Chr12:47993857 [GRCh38]
Chr12:48387640 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4422G>A (p.Glu1474=) single nucleotide variant COL2A1-related disorder [RCV004543894]|not provided [RCV002136612] Chr12:47973449 [GRCh38]
Chr12:48367232 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1221+7G>C single nucleotide variant not provided [RCV002201271] Chr12:47987604 [GRCh38]
Chr12:48381387 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2301+20C>G single nucleotide variant not provided [RCV002203147] Chr12:47982482 [GRCh38]
Chr12:48376265 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2589T>C (p.Pro863=) single nucleotide variant not provided [RCV002175221] Chr12:47980590 [GRCh38]
Chr12:48374373 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1123-7T>C single nucleotide variant not provided [RCV002199542] Chr12:47987716 [GRCh38]
Chr12:48381499 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-17G>T single nucleotide variant not provided [RCV002159492] Chr12:47978775 [GRCh38]
Chr12:48372558 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2091C>G (p.Pro697=) single nucleotide variant Connective tissue disorder [RCV002277040]|not provided [RCV002203472] Chr12:47983096 [GRCh38]
Chr12:48376879 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2734-13T>A single nucleotide variant not provided [RCV002175592] Chr12:47978771 [GRCh38]
Chr12:48372554 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003+20C>T single nucleotide variant not provided [RCV002202053] Chr12:47978271 [GRCh38]
Chr12:48372054 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1623C>T (p.Pro541=) single nucleotide variant not provided [RCV002123601] Chr12:47985785 [GRCh38]
Chr12:48379568 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1365+9C>T single nucleotide variant not provided [RCV002100344] Chr12:47987069 [GRCh38]
Chr12:48380852 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.114G>A (p.Gly38=) single nucleotide variant not provided [RCV002158318] Chr12:48000097 [GRCh38]
Chr12:48393880 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.970-9G>T single nucleotide variant not provided [RCV002198520] Chr12:47992940 [GRCh38]
Chr12:48386723 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3436-17C>T single nucleotide variant not provided [RCV002217632] Chr12:47976584 [GRCh38]
Chr12:48370367 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3990C>T (p.Asn1330=) single nucleotide variant not provided [RCV002082499] Chr12:47974759 [GRCh38]
Chr12:48368542 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4431C>T (p.Phe1477=) single nucleotide variant not provided [RCV002184201] Chr12:47973440 [GRCh38]
Chr12:48367223 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.86-17C>T single nucleotide variant not provided [RCV002144228] Chr12:48000142 [GRCh38]
Chr12:48393925 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2007C>T (p.Gly669=) single nucleotide variant not provided [RCV002204696] Chr12:47983427 [GRCh38]
Chr12:48377210 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-8C>G single nucleotide variant not provided [RCV002157146] Chr12:47978125 [GRCh38]
Chr12:48371908 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.504C>T (p.Gly168=) single nucleotide variant not provided [RCV002204709] Chr12:47997633 [GRCh38]
Chr12:48391416 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.817-19C>T single nucleotide variant not provided [RCV002141959] Chr12:47994066 [GRCh38]
Chr12:48387849 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3504C>T (p.Pro1168=) single nucleotide variant not provided [RCV002155370] Chr12:47976056 [GRCh38]
Chr12:48369839 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1503G>A (p.Gly501=) single nucleotide variant not provided [RCV002184662] Chr12:47986360 [GRCh38]
Chr12:48380143 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.925-14C>T single nucleotide variant not provided [RCV002180606] Chr12:47993516 [GRCh38]
Chr12:48387299 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2759dup (p.Gly921fs) duplication not provided [RCV003110027] Chr12:47978732..47978733 [GRCh38]
Chr12:48372515..48372516 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1221+3A>C single nucleotide variant not provided [RCV003110078] Chr12:47987608 [GRCh38]
Chr12:48381391 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1988G>A (p.Gly663Glu) single nucleotide variant COL2A1-related disorder [RCV004534241] Chr12:47983690 [GRCh38]
Chr12:48377473 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.293-10dup duplication not provided [RCV003117004] Chr12:47998440..47998441 [GRCh38]
Chr12:48392223..48392224 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4157C>A (p.Ser1386Tyr) single nucleotide variant not provided [RCV003112244] Chr12:47974249 [GRCh38]
Chr12:48368032 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.610-2A>G single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV003123311] Chr12:47995921 [GRCh38]
Chr12:48389704 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1025G>T (p.Gly342Val) single nucleotide variant not provided [RCV003120340] Chr12:47989804 [GRCh38]
Chr12:48383587 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.100T>C (p.Cys34Arg) single nucleotide variant not provided [RCV003120486] Chr12:48000111 [GRCh38]
Chr12:48393894 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.638G>A (p.Gly213Asp) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV003153183] Chr12:47995891 [GRCh38]
Chr12:48389674 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.531+1G>A single nucleotide variant not provided [RCV003149219] Chr12:47997605 [GRCh38]
Chr12:48391388 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1339G>A (p.Gly447Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV003151697] Chr12:47987104 [GRCh38]
Chr12:48380887 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2941G>A (p.Gly981Ser) single nucleotide variant Achondrogenesis type II [RCV002273087] Chr12:47978353 [GRCh38]
Chr12:48372136 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs) deletion Stickler syndrome type 1 [RCV002250986] Chr12:47981798..47981816 [GRCh38]
Chr12:48375581..48375599 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2995G>T (p.Gly999Cys) single nucleotide variant Achondrogenesis type II [RCV002227895] Chr12:47978299 [GRCh38]
Chr12:48372082 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3397C>T (p.Arg1133Cys) single nucleotide variant Achondrogenesis type II [RCV003093905]|Spondyloepiphyseal dysplasia congenita [RCV002227901]|not provided [RCV003101301] Chr12:47976850 [GRCh38]
Chr12:48370633 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance|not provided
NM_001844.5(COL2A1):c.3626G>A (p.Gly1209Asp) single nucleotide variant Achondrogenesis type II [RCV003151698] Chr12:47975577 [GRCh38]
Chr12:48369360 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2173_2181del (p.722PGT[1]) deletion Stickler syndrome type 1 [RCV003151700] Chr12:47982860..47982868 [GRCh38]
Chr12:48376643..48376651 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.160A>T (p.Ile54Phe) single nucleotide variant not provided [RCV002259488] Chr12:48000051 [GRCh38]
Chr12:48393834 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2080C>T (p.Leu694Phe) single nucleotide variant not provided [RCV003235849] Chr12:47983107 [GRCh38]
Chr12:48376890 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.770C>G (p.Ala257Gly) single nucleotide variant not provided [RCV003234246] Chr12:47994470 [GRCh38]
Chr12:48388253 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1267-2_1269del deletion Achondrogenesis type II [RCV002279899] Chr12:47987174..47987178 [GRCh38]
Chr12:48380957..48380961 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.547A>G (p.Met183Val) single nucleotide variant not provided [RCV002267390] Chr12:47996610 [GRCh38]
Chr12:48390393 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3378G>C (p.Glu1126Asp) single nucleotide variant not provided [RCV002269763] Chr12:47976869 [GRCh38]
Chr12:48370652 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) single nucleotide variant not provided [RCV002273642] Chr12:47973482 [GRCh38]
Chr12:48367265 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) single nucleotide variant Connective tissue disorder [RCV002278693] Chr12:47978344 [GRCh38]
Chr12:48372127 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1862G>A (p.Gly621Glu) single nucleotide variant Avascular necrosis of femoral head, primary, 1 [RCV003444024]|Connective tissue disorder [RCV002278845] Chr12:47984571 [GRCh38]
Chr12:48378354 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) single nucleotide variant Connective tissue disorder [RCV002278846] Chr12:47983137 [GRCh38]
Chr12:48376920 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2248G>A (p.Gly750Arg) single nucleotide variant Connective tissue disorder [RCV002278848] Chr12:47982555 [GRCh38]
Chr12:48376338 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2347G>A (p.Gly783Ser) single nucleotide variant not provided [RCV002275772] Chr12:47982115 [GRCh38]
Chr12:48375898 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3687A>T (p.Arg1229Ser) single nucleotide variant not provided [RCV002267262] Chr12:47975516 [GRCh38]
Chr12:48369299 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter) single nucleotide variant Stickler syndrome type 1 [RCV002290174] Chr12:47983712 [GRCh38]
Chr12:48377495 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.86-50C>T single nucleotide variant COL2A1-related disorder [RCV004534033]|not provided [RCV002275981] Chr12:48000175 [GRCh38]
Chr12:48393958 [GRCh37]
Chr12:12q13.11		 benign|likely benign
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) single nucleotide variant Connective tissue disorder [RCV002278691] Chr12:47980633 [GRCh38]
Chr12:48374416 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4317+1G>A single nucleotide variant Connective tissue disorder [RCV002278697] Chr12:47974088 [GRCh38]
Chr12:48367871 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser) single nucleotide variant Connective tissue disorder [RCV002278830] Chr12:47986443 [GRCh38]
Chr12:48380226 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2156G>A (p.Arg719His) single nucleotide variant Connective tissue disorder [RCV002278847]|not provided [RCV003774915] Chr12:47982885 [GRCh38]
Chr12:48376668 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2895+1G>C single nucleotide variant Stickler syndrome type 1 [RCV002286619] Chr12:47978596 [GRCh38]
Chr12:48372379 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.622C>T (p.Pro208Ser) single nucleotide variant not provided [RCV002291997] Chr12:47995907 [GRCh38]
Chr12:48389690 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) single nucleotide variant Achondrogenesis type II [RCV002260533] Chr12:47983726 [GRCh38]
Chr12:48377509 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) single nucleotide variant Connective tissue disorder [RCV002278694] Chr12:47978099 [GRCh38]
Chr12:48371882 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) single nucleotide variant Connective tissue disorder [RCV002278849] Chr12:47982141 [GRCh38]
Chr12:48375924 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1744G>A (p.Gly582Ser) single nucleotide variant not provided [RCV003236121] Chr12:47985084 [GRCh38]
Chr12:48378867 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4137C>T (p.Arg1379=) single nucleotide variant not provided [RCV002262385] Chr12:47974269 [GRCh38]
Chr12:48368052 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser) single nucleotide variant Achondrogenesis type II [RCV003236501]|not provided [RCV003669369] Chr12:47987176 [GRCh38]
Chr12:48380959 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3706del (p.Leu1236fs) deletion not provided [RCV002273544] Chr12:47975497 [GRCh38]
Chr12:48369280 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3598-5T>C single nucleotide variant Connective tissue disorder [RCV002278696]|not provided [RCV003660918] Chr12:47975610 [GRCh38]
Chr12:48369393 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3435+4_3435+7del deletion Marfan syndrome [RCV003128453]|Stickler syndrome type 1 [RCV002288282]|not provided [RCV003097763] Chr12:47976805..47976808 [GRCh38]
Chr12:48370588..48370591 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.610-2A>T single nucleotide variant Stickler syndrome type 1 [RCV002283666] Chr12:47995921 [GRCh38]
Chr12:48389704 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2581G>C (p.Gly861Arg) single nucleotide variant Spondyloperipheral dysplasia [RCV002287215] Chr12:47980598 [GRCh38]
Chr12:48374381 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4055C>T (p.Thr1352Ile) single nucleotide variant not provided [RCV002265443] Chr12:47974694 [GRCh38]
Chr12:48368477 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.347T>C (p.Val116Ala) single nucleotide variant not provided [RCV002265491] Chr12:47998060 [GRCh38]
Chr12:48391843 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4464A>T (p.Ter1488Tyr) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002284025] Chr12:47973407 [GRCh38]
Chr12:48367190 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3463G>A (p.Gly1155Ser) single nucleotide variant Spondyloperipheral dysplasia [RCV002287304] Chr12:47976540 [GRCh38]
Chr12:48370323 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2104G>A (p.Gly702Ser) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV002290047] Chr12:47982937 [GRCh38]
Chr12:48376720 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.429+2T>G single nucleotide variant Stickler syndrome type 1 [RCV002290202] Chr12:47997869 [GRCh38]
Chr12:48391652 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1597C>A (p.Arg533=) single nucleotide variant not provided [RCV002269713] Chr12:47985811 [GRCh38]
Chr12:48379594 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter) single nucleotide variant Stickler syndrome type 1 [RCV002290288] Chr12:47997912 [GRCh38]
Chr12:48391695 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1064del (p.Pro355fs) deletion Stickler syndrome type 1 [RCV002290398] Chr12:47989765 [GRCh38]
Chr12:48383548 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4121A>C (p.Gln1374Pro) single nucleotide variant not provided [RCV003233429] Chr12:47974285 [GRCh38]
Chr12:48368068 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.293-2A>T single nucleotide variant Stickler syndrome type 1 [RCV002291186] Chr12:47998433 [GRCh38]
Chr12:48392216 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) single nucleotide variant Connective tissue disorder [RCV002278695] Chr12:47978071 [GRCh38]
Chr12:48371854 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4085del (p.Gly1362fs) deletion Stickler syndrome type 1 [RCV002286443] Chr12:47974321 [GRCh38]
Chr12:48368104 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1267-2A>G single nucleotide variant Connective tissue disorder [RCV002278826] Chr12:47987178 [GRCh38]
Chr12:48380961 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) single nucleotide variant Connective tissue disorder [RCV002278844] Chr12:47985735 [GRCh38]
Chr12:48379518 [GRCh37]
Chr12:12q13.11		 likely pathogenic
GRCh37/hg19 12q12-13.11(chr12:44661149-48921204)x1 copy number loss not provided [RCV002291537] Chr12:44661149..48921204 [GRCh37]
Chr12:12q12-13.11		 pathogenic
NM_001844.5(COL2A1):c.2780G>T (p.Gly927Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV002282590] Chr12:47978712 [GRCh38]
Chr12:48372495 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.970-6T>C single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV002287538]|not specified [RCV002285098] Chr12:47992937 [GRCh38]
Chr12:48386720 [GRCh37]
Chr12:12q13.11		 uncertain significance|no classifications from unflagged records
NM_001844.5(COL2A1):c.3404T>G (p.Phe1135Cys) single nucleotide variant not provided [RCV002297682] Chr12:47976843 [GRCh38]
Chr12:48370626 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4006T>C (p.Trp1336Arg) single nucleotide variant not provided [RCV002297198] Chr12:47974743 [GRCh38]
Chr12:48368526 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2680-1G>A single nucleotide variant Connective tissue disorder [RCV002278692] Chr12:47979565 [GRCh38]
Chr12:48373348 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.604_609+2del deletion Connective tissue disorder [RCV002278698] Chr12:47996546..47996553 [GRCh38]
Chr12:48390329..48390336 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3190G>T (p.Val1064Leu) single nucleotide variant not provided [RCV002303325] Chr12:47977403 [GRCh38]
Chr12:48371186 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1053C>T (p.Gly351=) single nucleotide variant not provided [RCV002858246] Chr12:47989776 [GRCh38]
Chr12:48383559 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002471956] Chr12:47996592 [GRCh38]
Chr12:48390375 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1527+1G>A single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002472045] Chr12:47986335 [GRCh38]
Chr12:48380118 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1420-1G>A single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV002466863]|not provided [RCV002571405] Chr12:47986444 [GRCh38]
Chr12:48380227 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4058T>C (p.Ile1353Thr) single nucleotide variant not provided [RCV002474217] Chr12:47974691 [GRCh38]
Chr12:48368474 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.-5G>A single nucleotide variant not provided [RCV002467355] Chr12:48004326 [GRCh38]
Chr12:48398109 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2625+2T>C single nucleotide variant Stickler syndrome type 1 [RCV002471804] Chr12:47980552 [GRCh38]
Chr12:48374335 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3617G>C (p.Gly1206Ala) single nucleotide variant Type 2 collagenopathy [RCV002471810] Chr12:47975586 [GRCh38]
Chr12:48369369 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3344G>C (p.Arg1115Thr) single nucleotide variant not provided [RCV002298076] Chr12:47976903 [GRCh38]
Chr12:48370686 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4259A>C (p.Glu1420Ala) single nucleotide variant not provided [RCV002305186] Chr12:47974147 [GRCh38]
Chr12:48367930 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.618G>A (p.Met206Ile) single nucleotide variant not provided [RCV002299850] Chr12:47995911 [GRCh38]
Chr12:48389694 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.514C>G (p.Pro172Ala) single nucleotide variant not provided [RCV002295549] Chr12:47997623 [GRCh38]
Chr12:48391406 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4123A>G (p.Met1375Val) single nucleotide variant not provided [RCV002295804] Chr12:47974283 [GRCh38]
Chr12:48368066 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2642C>G (p.Thr881Ser) single nucleotide variant not provided [RCV002296286] Chr12:47980046 [GRCh38]
Chr12:48373829 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.248G>C (p.Gly83Ala) single nucleotide variant not provided [RCV002300453] Chr12:47999963 [GRCh38]
Chr12:48393746 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1594G>C (p.Glu532Gln) single nucleotide variant not provided [RCV002296097] Chr12:47985814 [GRCh38]
Chr12:48379597 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC indel Kniest dysplasia [RCV002306436] Chr12:47993987..47993989 [GRCh38]
Chr12:48387770..48387772 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.335T>C (p.Ile112Thr) single nucleotide variant not provided [RCV002296586] Chr12:47998176 [GRCh38]
Chr12:48391959 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.164G>A (p.Cys55Tyr) single nucleotide variant not provided [RCV002296531] Chr12:48000047 [GRCh38]
Chr12:48393830 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.847C>T (p.Leu283Phe) single nucleotide variant not provided [RCV002299676] Chr12:47994017 [GRCh38]
Chr12:48387800 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1555G>A (p.Gly519Ser) single nucleotide variant not provided [RCV002302617] Chr12:47985938 [GRCh38]
Chr12:48379721 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.421G>T (p.Gly141Cys) single nucleotide variant not provided [RCV002302302] Chr12:47997879 [GRCh38]
Chr12:48391662 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2453G>T (p.Arg818Leu) single nucleotide variant not provided [RCV002993577] Chr12:47981353 [GRCh38]
Chr12:48375136 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2194-17C>G single nucleotide variant not provided [RCV002726376] Chr12:47982626 [GRCh38]
Chr12:48376409 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3289A>G (p.Met1097Val) single nucleotide variant not provided [RCV002838252] Chr12:47977140 [GRCh38]
Chr12:48370923 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4355A>G (p.Tyr1452Cys) single nucleotide variant Inborn genetic diseases [RCV002741641]|not provided [RCV002774959] Chr12:47973516 [GRCh38]
Chr12:48367299 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3347G>A (p.Gly1116Asp) single nucleotide variant not provided [RCV002816696] Chr12:47976900 [GRCh38]
Chr12:48370683 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1438G>T (p.Gly480Ter) single nucleotide variant not provided [RCV002858153] Chr12:47986425 [GRCh38]
Chr12:48380208 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.664G>C (p.Gly222Arg) single nucleotide variant not provided [RCV003013330] Chr12:47995754 [GRCh38]
Chr12:48389537 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2896-14C>T single nucleotide variant not provided [RCV002972143] Chr12:47978412 [GRCh38]
Chr12:48372195 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2000_2001del (p.Leu667fs) deletion not provided [RCV003015125] Chr12:47983433..47983434 [GRCh38]
Chr12:48377216..48377217 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2302-19T>C single nucleotide variant not provided [RCV002881509] Chr12:47982179 [GRCh38]
Chr12:48375962 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3206C>A (p.Ala1069Asp) single nucleotide variant not provided [RCV002970702] Chr12:47977387 [GRCh38]
Chr12:48371170 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2325T>C (p.Pro775=) single nucleotide variant not provided [RCV003014142] Chr12:47982137 [GRCh38]
Chr12:48375920 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4075-14C>T single nucleotide variant not provided [RCV002755049] Chr12:47974345 [GRCh38]
Chr12:48368128 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2575G>A (p.Asp859Asn) single nucleotide variant not provided [RCV002903026] Chr12:47980604 [GRCh38]
Chr12:48374387 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+13A>T single nucleotide variant not provided [RCV002613831] Chr12:47977997 [GRCh38]
Chr12:48371780 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.951C>T (p.Asn317=) single nucleotide variant not provided [RCV002681139] Chr12:47993476 [GRCh38]
Chr12:48387259 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1716A>C (p.Gln572His) single nucleotide variant not provided [RCV002862426] Chr12:47985552 [GRCh38]
Chr12:48379335 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3932T>C (p.Met1311Thr) single nucleotide variant not provided [RCV002972451] Chr12:47974817 [GRCh38]
Chr12:48368600 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.997G>C (p.Gly333Arg) single nucleotide variant not provided [RCV003012149] Chr12:47992904 [GRCh38]
Chr12:48386687 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.661del (p.Gln221fs) deletion not provided [RCV002841992] Chr12:47995757 [GRCh38]
Chr12:48389540 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.437del (p.Pro146fs) deletion not provided [RCV002839464] Chr12:47997700 [GRCh38]
Chr12:48391483 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3490-15CT[3] microsatellite not provided [RCV002861836] Chr12:47976076..47976079 [GRCh38]
Chr12:48369859..48369862 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3976C>G (p.Pro1326Ala) single nucleotide variant not provided [RCV002731326] Chr12:47974773 [GRCh38]
Chr12:48368556 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4462T>C (p.Ter1488Gln) single nucleotide variant not provided [RCV002617139] Chr12:47973409 [GRCh38]
Chr12:48367192 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.534del (p.Phe179fs) deletion not provided [RCV002975076] Chr12:47996623 [GRCh38]
Chr12:48390406 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.969+10G>A single nucleotide variant COL2A1-related disorder [RCV004534176]|not provided [RCV002726502] Chr12:47993448 [GRCh38]
Chr12:48387231 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4272G>A (p.Glu1424=) single nucleotide variant not provided [RCV002996931] Chr12:47974134 [GRCh38]
Chr12:48367917 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3598-10C>T single nucleotide variant not provided [RCV003017755] Chr12:47975615 [GRCh38]
Chr12:48369398 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1271C>T (p.Ala424Val) single nucleotide variant not provided [RCV003017431] Chr12:47987172 [GRCh38]
Chr12:48380955 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.609+15T>C single nucleotide variant not provided [RCV002820039] Chr12:47996533 [GRCh38]
Chr12:48390316 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.205T>C (p.Cys69Arg) single nucleotide variant not provided [RCV002996317] Chr12:48000006 [GRCh38]
Chr12:48393789 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1078G>A (p.Gly360Ser) single nucleotide variant not provided [RCV002617942] Chr12:47989272 [GRCh38]
Chr12:48383055 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.532-20G>A single nucleotide variant not provided [RCV002755677] Chr12:47996645 [GRCh38]
Chr12:48390428 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.980del (p.Gly327fs) deletion not provided [RCV003012252] Chr12:47992921 [GRCh38]
Chr12:48386704 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1069-16C>A single nucleotide variant not provided [RCV002996694] Chr12:47989297 [GRCh38]
Chr12:48383080 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4210G>T (p.Ala1404Ser) single nucleotide variant Inborn genetic diseases [RCV002864432] Chr12:47974196 [GRCh38]
Chr12:48367979 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.478A>C (p.Asn160His) single nucleotide variant not provided [RCV002755269] Chr12:47997659 [GRCh38]
Chr12:48391442 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4392C>T (p.Asp1464=) single nucleotide variant not provided [RCV002908663] Chr12:47973479 [GRCh38]
Chr12:48367262 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3435+5G>C single nucleotide variant not provided [RCV002996584] Chr12:47976807 [GRCh38]
Chr12:48370590 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.644C>T (p.Ala215Val) single nucleotide variant not provided [RCV003032884] Chr12:47995885 [GRCh38]
Chr12:48389668 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2841A>C (p.Gln947His) single nucleotide variant Inborn genetic diseases [RCV004614331]|not provided [RCV003076926] Chr12:47978651 [GRCh38]
Chr12:48372434 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.3340C>T (p.Pro1114Ser) single nucleotide variant not provided [RCV002881555] Chr12:47976907 [GRCh38]
Chr12:48370690 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.86-1G>A single nucleotide variant not provided [RCV003017611] Chr12:48000126 [GRCh38]
Chr12:48393909 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.292+15A>C single nucleotide variant not provided [RCV002995756] Chr12:47999904 [GRCh38]
Chr12:48393687 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1919C>T (p.Ala640Val) single nucleotide variant not provided [RCV002908658] Chr12:47984109 [GRCh38]
Chr12:48377892 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3504C>A (p.Pro1168=) single nucleotide variant COL2A1-related disorder [RCV004536539]|not provided [RCV003034835] Chr12:47976056 [GRCh38]
Chr12:48369839 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2964A>G (p.Gln988=) single nucleotide variant not provided [RCV002991771] Chr12:47978330 [GRCh38]
Chr12:48372113 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter) single nucleotide variant Stickler syndrome type 1 [RCV003151422]|not provided [RCV002862651] Chr12:47995757 [GRCh38]
Chr12:48389540 [GRCh37]
Chr12:12q13.11		 pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1502G>A (p.Gly501Glu) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV002512508] Chr12:47986361 [GRCh38]
Chr12:48380144 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4005C>T (p.Asn1335=) single nucleotide variant not provided [RCV002508664] Chr12:47974744 [GRCh38]
Chr12:48368527 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.76C>T (p.Gln26Ter) single nucleotide variant not provided [RCV002842009] Chr12:48004246 [GRCh38]
Chr12:48398029 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1735-2A>C single nucleotide variant not provided [RCV002882049] Chr12:47985095 [GRCh38]
Chr12:48378878 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.86-18T>A single nucleotide variant not provided [RCV002730649] Chr12:48000143 [GRCh38]
Chr12:48393926 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3252G>T (p.Lys1084Asn) single nucleotide variant Inborn genetic diseases [RCV002574727]|not provided [RCV002510120] Chr12:47977341 [GRCh38]
Chr12:48371124 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2559G>T (p.Glu853Asp) single nucleotide variant Inborn genetic diseases [RCV002879645]|not provided [RCV003777889] Chr12:47980620 [GRCh38]
Chr12:48374403 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1439del (p.Gly480fs) deletion not provided [RCV002838502] Chr12:47986424 [GRCh38]
Chr12:48380207 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.313C>T (p.Gln105Ter) single nucleotide variant not provided [RCV002863500] Chr12:47998198 [GRCh38]
Chr12:48391981 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2895+1G>A single nucleotide variant not provided [RCV002880358] Chr12:47978596 [GRCh38]
Chr12:48372379 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.396A>T (p.Gly132=) single nucleotide variant not provided [RCV003016131] Chr12:47997904 [GRCh38]
Chr12:48391687 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.326C>T (p.Pro109Leu) single nucleotide variant not provided [RCV002995038] Chr12:47998185 [GRCh38]
Chr12:48391968 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3177T>G (p.Gly1059=) single nucleotide variant not provided [RCV002882255] Chr12:47977416 [GRCh38]
Chr12:48371199 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.497C>T (p.Pro166Leu) single nucleotide variant not provided [RCV002837829] Chr12:47997640 [GRCh38]
Chr12:48391423 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1681-18T>C single nucleotide variant not provided [RCV002842703] Chr12:47985605 [GRCh38]
Chr12:48379388 [GRCh37]
Chr12:12q13.11		 likely benign
GRCh37/hg19 12q13.11(chr12:48380031-48542853)x3 copy number gain not provided [RCV002475846] Chr12:48380031..48542853 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3123T>A (p.Gly1041=) single nucleotide variant not provided [RCV003076007] Chr12:47977642 [GRCh38]
Chr12:48371425 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-20_2302-17del deletion not provided [RCV003017102] Chr12:47982177..47982180 [GRCh38]
Chr12:48375960..48375963 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2739C>G (p.Asn913Lys) single nucleotide variant not provided [RCV002843248] Chr12:47978753 [GRCh38]
Chr12:48372536 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2852G>A (p.Gly951Glu) single nucleotide variant Inborn genetic diseases [RCV002794492] Chr12:47978640 [GRCh38]
Chr12:48372423 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1266+2dup duplication not provided [RCV003034769] Chr12:47987266..47987267 [GRCh38]
Chr12:48381049..48381050 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4281C>G (p.Ser1427Arg) single nucleotide variant not provided [RCV002861244] Chr12:47974125 [GRCh38]
Chr12:48367908 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3274-16C>T single nucleotide variant not provided [RCV003032828] Chr12:47977171 [GRCh38]
Chr12:48370954 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2410-12C>T single nucleotide variant not provided [RCV002613564] Chr12:47981408 [GRCh38]
Chr12:48375191 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.343-15G>T single nucleotide variant not provided [RCV002882076] Chr12:47998079 [GRCh38]
Chr12:48391862 [GRCh37]
Chr12:12q13.11		 likely benign
NC_000012.12:g.47980951_47980969del deletion not provided [RCV003034666] Chr12:47980948..47980966 [GRCh38]
Chr12:48374731..48374749 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.924+2T>G single nucleotide variant not provided [RCV002858166] Chr12:47993807 [GRCh38]
Chr12:48387590 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3803G>C (p.Ser1268Thr) single nucleotide variant not provided [RCV002839122] Chr12:47975400 [GRCh38]
Chr12:48369183 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4345_4346del (p.Val1449fs) deletion Achondrogenesis type II [RCV003151699] Chr12:47973525..47973526 [GRCh38]
Chr12:48367308..48367309 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2190C>T (p.Pro730=) single nucleotide variant not provided [RCV002881710] Chr12:47982851 [GRCh38]
Chr12:48376634 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3886+17G>T single nucleotide variant not provided [RCV002843046] Chr12:47975300 [GRCh38]
Chr12:48369083 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+8C>A single nucleotide variant not provided [RCV002947723] Chr12:47974667 [GRCh38]
Chr12:48368450 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1541A>C (p.Asn514Thr) single nucleotide variant not provided [RCV002511732] Chr12:47985952 [GRCh38]
Chr12:48379735 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1420-13dup duplication not provided [RCV003016451] Chr12:47986455..47986456 [GRCh38]
Chr12:48380238..48380239 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1024-3C>T single nucleotide variant not provided [RCV003017287] Chr12:47989808 [GRCh38]
Chr12:48383591 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4074+13G>A single nucleotide variant not provided [RCV002880674] Chr12:47974662 [GRCh38]
Chr12:48368445 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3909C>T (p.Asn1303=) single nucleotide variant not provided [RCV002785766] Chr12:47974840 [GRCh38]
Chr12:48368623 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.964C>T (p.Pro322Ser) single nucleotide variant not provided [RCV003055653] Chr12:47993463 [GRCh38]
Chr12:48387246 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.672A>G (p.Gln224=) single nucleotide variant not provided [RCV002913215] Chr12:47995746 [GRCh38]
Chr12:48389529 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.33G>C (p.Val11=) single nucleotide variant not provided [RCV002846824] Chr12:48004289 [GRCh38]
Chr12:48398072 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4073A>G (p.His1358Arg) single nucleotide variant not provided [RCV002593119] Chr12:47974676 [GRCh38]
Chr12:48368459 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1394G>T (p.Gly465Val) single nucleotide variant not provided [RCV003022145] Chr12:47986860 [GRCh38]
Chr12:48380643 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1222-10C>A single nucleotide variant not provided [RCV002889871] Chr12:47987323 [GRCh38]
Chr12:48381106 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.144G>A (p.Lys48=) single nucleotide variant not provided [RCV003003277] Chr12:48000067 [GRCh38]
Chr12:48393850 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2177G>A (p.Gly726Asp) single nucleotide variant not provided [RCV003037450] Chr12:47982864 [GRCh38]
Chr12:48376647 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1029C>G (p.Ala343=) single nucleotide variant not provided [RCV003003276] Chr12:47989800 [GRCh38]
Chr12:48383583 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.1926A>T (p.Gly642=) single nucleotide variant not provided [RCV002848100] Chr12:47984102 [GRCh38]
Chr12:48377885 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.85+3A>G single nucleotide variant not provided [RCV003003124] Chr12:48004234 [GRCh38]
Chr12:48398017 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3536dup (p.Ile1180fs) duplication not provided [RCV002889717] Chr12:47976023..47976024 [GRCh38]
Chr12:48369806..48369807 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.61C>T (p.Leu21Phe) single nucleotide variant not provided [RCV003053622] Chr12:48004261 [GRCh38]
Chr12:48398044 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1069-27_1069-12dup duplication not provided [RCV002979880] Chr12:47989292..47989293 [GRCh38]
Chr12:48383075..48383076 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.881G>T (p.Gly294Val) single nucleotide variant not provided [RCV003039276] Chr12:47993852 [GRCh38]
Chr12:48387635 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.309+5G>A single nucleotide variant not provided [RCV003021966] Chr12:47998410 [GRCh38]
Chr12:48392193 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.642T>C (p.Pro214=) single nucleotide variant not provided [RCV002663085] Chr12:47995887 [GRCh38]
Chr12:48389670 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1764A>G (p.Gly588=) single nucleotide variant not provided [RCV002928160] Chr12:47985064 [GRCh38]
Chr12:48378847 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3303A>G (p.Gly1101=) single nucleotide variant not provided [RCV002871441] Chr12:47977126 [GRCh38]
Chr12:48370909 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4303A>T (p.Lys1435Ter) single nucleotide variant not provided [RCV002796412] Chr12:47974103 [GRCh38]
Chr12:48367886 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.393del (p.Gly132fs) deletion not provided [RCV003055769] Chr12:47997907 [GRCh38]
Chr12:48391690 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1876C>T (p.Pro626Ser) single nucleotide variant not provided [RCV002658489] Chr12:47984557 [GRCh38]
Chr12:48378340 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1227C>T (p.Asn409=) single nucleotide variant not provided [RCV003019567] Chr12:47987308 [GRCh38]
Chr12:48381091 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2355+13G>A single nucleotide variant not provided [RCV002740015] Chr12:47982094 [GRCh38]
Chr12:48375877 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.225C>A (p.Cys75Ter) single nucleotide variant not provided [RCV002825503] Chr12:47999986 [GRCh38]
Chr12:48393769 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2726G>A (p.Gly909Asp) single nucleotide variant not provided [RCV002871434] Chr12:47979518 [GRCh38]
Chr12:48373301 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1117G>T (p.Ala373Ser) single nucleotide variant not provided [RCV002662789] Chr12:47989233 [GRCh38]
Chr12:48383016 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3395A>G (p.His1132Arg) single nucleotide variant Inborn genetic diseases [RCV002799585] Chr12:47976852 [GRCh38]
Chr12:48370635 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2184T>C (p.Asp728=) single nucleotide variant not provided [RCV003039202] Chr12:47982857 [GRCh38]
Chr12:48376640 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4135C>A (p.Arg1379Ser) single nucleotide variant not provided [RCV002623040] Chr12:47974271 [GRCh38]
Chr12:48368054 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4143G>A (p.Leu1381=) single nucleotide variant not provided [RCV002886689] Chr12:47974263 [GRCh38]
Chr12:48368046 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3969C>G (p.Cys1323Trp) single nucleotide variant not provided [RCV003037447] Chr12:47974780 [GRCh38]
Chr12:48368563 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1581+3G>A single nucleotide variant not provided [RCV002690818] Chr12:47985909 [GRCh38]
Chr12:48379692 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3063C>T (p.Pro1021=) single nucleotide variant not provided [RCV002591308] Chr12:47978058 [GRCh38]
Chr12:48371841 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1680+15del deletion not provided [RCV002705436] Chr12:47985713 [GRCh38]
Chr12:48379496 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2491G>T (p.Gly831Ter) single nucleotide variant Type 2 collagenopathy [RCV003985110]|not provided [RCV003054316] Chr12:47980941 [GRCh38]
Chr12:48374724 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1029C>T (p.Ala343=) single nucleotide variant not provided [RCV003037765] Chr12:47989800 [GRCh38]
Chr12:48383583 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1536C>T (p.Pro512=) single nucleotide variant not provided [RCV002636814] Chr12:47985957 [GRCh38]
Chr12:48379740 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2733+19A>C single nucleotide variant not provided [RCV002760531] Chr12:47979492 [GRCh38]
Chr12:48373275 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2601C>T (p.Gly867=) single nucleotide variant not provided [RCV002923065] Chr12:47980578 [GRCh38]
Chr12:48374361 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.931A>G (p.Ser311Gly) single nucleotide variant Inborn genetic diseases [RCV002736966] Chr12:47993496 [GRCh38]
Chr12:48387279 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1423C>A (p.Pro475Thr) single nucleotide variant not provided [RCV002780463] Chr12:47986440 [GRCh38]
Chr12:48380223 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3073C>T (p.Pro1025Ser) single nucleotide variant not provided [RCV002620714] Chr12:47978048 [GRCh38]
Chr12:48371831 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4408A>G (p.Ile1470Val) single nucleotide variant not provided [RCV002619589] Chr12:47973463 [GRCh38]
Chr12:48367246 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3435+5G>A single nucleotide variant not provided [RCV002824145] Chr12:47976807 [GRCh38]
Chr12:48370590 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.646G>T (p.Gly216Cys) single nucleotide variant not provided [RCV002948635] Chr12:47995883 [GRCh38]
Chr12:48389666 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.856G>A (p.Val286Ile) single nucleotide variant not provided [RCV002705800] Chr12:47994008 [GRCh38]
Chr12:48387791 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2193+5G>C single nucleotide variant not provided [RCV002866510] Chr12:47982843 [GRCh38]
Chr12:48376626 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.762+12C>T single nucleotide variant not provided [RCV002976418] Chr12:47995243 [GRCh38]
Chr12:48389026 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2679+20C>T single nucleotide variant not provided [RCV002999875] Chr12:47979989 [GRCh38]
Chr12:48373772 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2720C>A (p.Pro907His) single nucleotide variant not provided [RCV002796955] Chr12:47979524 [GRCh38]
Chr12:48373307 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3327+19T>C single nucleotide variant not provided [RCV003018240] Chr12:47977083 [GRCh38]
Chr12:48370866 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+15C>G single nucleotide variant not provided [RCV002795965] Chr12:47977995 [GRCh38]
Chr12:48371778 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3112-2A>G single nucleotide variant not provided [RCV002866646] Chr12:47977655 [GRCh38]
Chr12:48371438 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2344_2355+5del deletion not provided [RCV003079141] Chr12:47982102..47982118 [GRCh38]
Chr12:48375885..48375901 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1043G>T (p.Gly348Val) single nucleotide variant not provided [RCV003079143] Chr12:47989786 [GRCh38]
Chr12:48383569 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2850dup (p.Gly951fs) duplication not provided [RCV002952663] Chr12:47978641..47978642 [GRCh38]
Chr12:48372424..48372425 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4340A>G (p.Lys1447Arg) single nucleotide variant not provided [RCV002825081] Chr12:47973531 [GRCh38]
Chr12:48367314 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3538A>C (p.Ile1180Leu) single nucleotide variant not provided [RCV002999398] Chr12:47976022 [GRCh38]
Chr12:48369805 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2033del (p.Gly678fs) deletion not provided [RCV002886211] Chr12:47983401 [GRCh38]
Chr12:48377184 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1450C>T (p.Pro484Ser) single nucleotide variant not provided [RCV002706004] Chr12:47986413 [GRCh38]
Chr12:48380196 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1769C>T (p.Pro590Leu) single nucleotide variant not provided [RCV003020604] Chr12:47985059 [GRCh38]
Chr12:48378842 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2517+2T>C single nucleotide variant not provided [RCV002824874] Chr12:47980913 [GRCh38]
Chr12:48374696 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.708+16G>A single nucleotide variant not provided [RCV002885694] Chr12:47995694 [GRCh38]
Chr12:48389477 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2733+9T>C single nucleotide variant not provided [RCV003000188] Chr12:47979502 [GRCh38]
Chr12:48373285 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2680-8C>T single nucleotide variant not provided [RCV003037469] Chr12:47979572 [GRCh38]
Chr12:48373355 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+5G>A single nucleotide variant not provided [RCV002975932] Chr12:47974670 [GRCh38]
Chr12:48368453 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2296G>A (p.Asp766Asn) single nucleotide variant not provided [RCV002706466] Chr12:47982507 [GRCh38]
Chr12:48376290 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV002785373] Chr12:47987091 [GRCh38]
Chr12:48380874 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1702G>A (p.Asp568Asn) single nucleotide variant not provided [RCV003036519] Chr12:47985566 [GRCh38]
Chr12:48379349 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2918C>A (p.Pro973His) single nucleotide variant not provided [RCV003054111] Chr12:47978376 [GRCh38]
Chr12:48372159 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1941+17C>A single nucleotide variant not provided [RCV002622209] Chr12:47984070 [GRCh38]
Chr12:48377853 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1765C>G (p.Pro589Ala) single nucleotide variant not provided [RCV002622393] Chr12:47985063 [GRCh38]
Chr12:48378846 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3540C>A (p.Ile1180=) single nucleotide variant not provided [RCV002761326] Chr12:47976020 [GRCh38]
Chr12:48369803 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2072C>T (p.Ala691Val) single nucleotide variant not provided [RCV002735259] Chr12:47983115 [GRCh38]
Chr12:48376898 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1012G>C (p.Ala338Pro) single nucleotide variant not provided [RCV002638818] Chr12:47992889 [GRCh38]
Chr12:48386672 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2355+20T>C single nucleotide variant not provided [RCV003020275] Chr12:47982087 [GRCh38]
Chr12:48375870 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+8C>G single nucleotide variant not provided [RCV002847951] Chr12:47974667 [GRCh38]
Chr12:48368450 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1763G>A (p.Gly588Glu) single nucleotide variant not provided [RCV003018548] Chr12:47985065 [GRCh38]
Chr12:48378848 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2355+4del deletion not provided [RCV002847964] Chr12:47982103 [GRCh38]
Chr12:48375886 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.924+19C>G single nucleotide variant not provided [RCV003021488] Chr12:47993790 [GRCh38]
Chr12:48387573 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+2T>A single nucleotide variant not provided [RCV002866207] Chr12:47978008 [GRCh38]
Chr12:48371791 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4081T>G (p.Tyr1361Asp) single nucleotide variant not provided [RCV002824033] Chr12:47974325 [GRCh38]
Chr12:48368108 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2463+13C>T single nucleotide variant not provided [RCV002848346] Chr12:47981330 [GRCh38]
Chr12:48375113 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3165+3G>A single nucleotide variant not provided [RCV002885312] Chr12:47977597 [GRCh38]
Chr12:48371380 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.451A>G (p.Arg151Gly) single nucleotide variant not provided [RCV002785493] Chr12:47997686 [GRCh38]
Chr12:48391469 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1735-7C>G single nucleotide variant COL2A1-related disorder [RCV004536400]|not provided [RCV002785495] Chr12:47985100 [GRCh38]
Chr12:48378883 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.992A>G (p.Glu331Gly) single nucleotide variant not provided [RCV003039040] Chr12:47992909 [GRCh38]
Chr12:48386692 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2674C>T (p.Pro892Ser) single nucleotide variant not provided [RCV003038326] Chr12:47980014 [GRCh38]
Chr12:48373797 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.180G>A (p.Gly60=) single nucleotide variant not provided [RCV002867085] Chr12:48000031 [GRCh38]
Chr12:48393814 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3079C>T (p.Leu1027=) single nucleotide variant not provided [RCV003018124] Chr12:47978042 [GRCh38]
Chr12:48371825 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1068+10T>C single nucleotide variant not provided [RCV003036927] Chr12:47989751 [GRCh38]
Chr12:48383534 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1024-5C>T single nucleotide variant not provided [RCV002591139] Chr12:47989810 [GRCh38]
Chr12:48383593 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1250G>A (p.Gly417Glu) single nucleotide variant not provided [RCV002889365] Chr12:47987285 [GRCh38]
Chr12:48381068 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3328-14T>C single nucleotide variant not provided [RCV002735308] Chr12:47976933 [GRCh38]
Chr12:48370716 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3826C>T (p.Arg1276Cys) single nucleotide variant not provided [RCV003037448] Chr12:47975377 [GRCh38]
Chr12:48369160 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3435+18C>A single nucleotide variant not provided [RCV003037449] Chr12:47976794 [GRCh38]
Chr12:48370577 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2094+1G>A single nucleotide variant not provided [RCV003037451] Chr12:47983092 [GRCh38]
Chr12:48376875 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3900T>C (p.Ile1300=) single nucleotide variant not provided [RCV002761472] Chr12:47974849 [GRCh38]
Chr12:48368632 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3436_3437insA (p.Gly1146fs) insertion not provided [RCV002867600] Chr12:47976566..47976567 [GRCh38]
Chr12:48370349..48370350 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.990_991del (p.Glu331fs) deletion not provided [RCV003021393] Chr12:47992910..47992911 [GRCh38]
Chr12:48386693..48386694 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3435+9C>T single nucleotide variant not provided [RCV002848438] Chr12:47976803 [GRCh38]
Chr12:48370586 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3664G>A (p.Ala1222Thr) single nucleotide variant not provided [RCV002639207] Chr12:47975539 [GRCh38]
Chr12:48369322 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.423T>G (p.Gly141=) single nucleotide variant not provided [RCV002695309] Chr12:47997877 [GRCh38]
Chr12:48391660 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-4T>G single nucleotide variant not provided [RCV003055089] Chr12:47994481 [GRCh38]
Chr12:48388264 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.763-19TC[4] microsatellite not provided [RCV002823712] Chr12:47994485..47994488 [GRCh38]
Chr12:48388268..48388271 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1681-5C>T single nucleotide variant not provided [RCV003002225] Chr12:47985592 [GRCh38]
Chr12:48379375 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1310G>A (p.Arg437Gln) single nucleotide variant not provided [RCV003037023] Chr12:47987133 [GRCh38]
Chr12:48380916 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.490C>T (p.Pro164Ser) single nucleotide variant not provided [RCV003020889] Chr12:47997647 [GRCh38]
Chr12:48391430 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.342+5del deletion not provided [RCV002797142] Chr12:47998164 [GRCh38]
Chr12:48391947 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1671T>C (p.Pro557=) single nucleotide variant not provided [RCV002847262] Chr12:47985737 [GRCh38]
Chr12:48379520 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2787dup (p.Gly930fs) duplication not provided [RCV002889338] Chr12:47978704..47978705 [GRCh38]
Chr12:48372487..48372488 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.233dup (p.Pro78_Glu79insTer) duplication not provided [RCV002976399] Chr12:47999977..47999978 [GRCh38]
Chr12:48393760..48393761 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1833+2dup duplication not provided [RCV002796900] Chr12:47984992..47984993 [GRCh38]
Chr12:48378775..48378776 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2863G>A (p.Glu955Lys) single nucleotide variant not provided [RCV002948305] Chr12:47978629 [GRCh38]
Chr12:48372412 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2406del (p.Lys803fs) deletion not provided [RCV002866889] Chr12:47981779 [GRCh38]
Chr12:48375562 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2219C>T (p.Pro740Leu) single nucleotide variant not provided [RCV002797167] Chr12:47982584 [GRCh38]
Chr12:48376367 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1231G>T (p.Gly411Ter) single nucleotide variant not provided [RCV002867448] Chr12:47987304 [GRCh38]
Chr12:48381087 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3929C>T (p.Ala1310Val) single nucleotide variant not provided [RCV002639644] Chr12:47974820 [GRCh38]
Chr12:48368603 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2718del (p.Pro908fs) deletion not provided [RCV002889259] Chr12:47979526 [GRCh38]
Chr12:48373309 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2463G>C (p.Pro821=) single nucleotide variant not provided [RCV002790766] Chr12:47981343 [GRCh38]
Chr12:48375126 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3623dup (p.Gly1209fs) duplication COL2A1-related disorder [RCV004725402]|not provided [RCV002853365] Chr12:47975579..47975580 [GRCh38]
Chr12:48369362..48369363 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.870+3A>G single nucleotide variant not provided [RCV002894475] Chr12:47993991 [GRCh38]
Chr12:48387774 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2423C>T (p.Pro808Leu) single nucleotide variant not provided [RCV002645706] Chr12:47981383 [GRCh38]
Chr12:48375166 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1334C>G (p.Ala445Gly) single nucleotide variant not provided [RCV002801334] Chr12:47987109 [GRCh38]
Chr12:48380892 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.246C>A (p.Phe82Leu) single nucleotide variant not provided [RCV002958932] Chr12:47999965 [GRCh38]
Chr12:48393748 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.837A>T (p.Gly279=) single nucleotide variant not provided [RCV003022413] Chr12:47994027 [GRCh38]
Chr12:48387810 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1911G>A (p.Glu637=) single nucleotide variant not provided [RCV002805747] Chr12:47984117 [GRCh38]
Chr12:48377900 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1941+1G>T single nucleotide variant not provided [RCV002876857] Chr12:47984086 [GRCh38]
Chr12:48377869 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.654+13A>G single nucleotide variant not provided [RCV002853010] Chr12:47995862 [GRCh38]
Chr12:48389645 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.720T>A (p.Gly240=) single nucleotide variant not provided [RCV002852419] Chr12:47995297 [GRCh38]
Chr12:48389080 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1528-18C>T single nucleotide variant not provided [RCV002805278] Chr12:47985983 [GRCh38]
Chr12:48379766 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2282C>T (p.Ala761Val) single nucleotide variant Inborn genetic diseases [RCV002854639] Chr12:47982521 [GRCh38]
Chr12:48376304 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.85+15G>A single nucleotide variant not provided [RCV002575345] Chr12:48004222 [GRCh38]
Chr12:48398005 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+2T>G single nucleotide variant not provided [RCV003008241] Chr12:47974673 [GRCh38]
Chr12:48368456 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2301+4A>T single nucleotide variant not provided [RCV002645682] Chr12:47982498 [GRCh38]
Chr12:48376281 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.251A>G (p.Glu84Gly) single nucleotide variant not provided [RCV002791595] Chr12:47999960 [GRCh38]
Chr12:48393743 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1681-5C>A single nucleotide variant not provided [RCV002711499] Chr12:47985592 [GRCh38]
Chr12:48379375 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.336C>T (p.Ile112=) single nucleotide variant not provided [RCV002894214] Chr12:47998175 [GRCh38]
Chr12:48391958 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4318-31_4318-15del deletion not provided [RCV002575469] Chr12:47973568..47973584 [GRCh38]
Chr12:48367351..48367367 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2625+1G>A single nucleotide variant not provided [RCV002853253] Chr12:47980553 [GRCh38]
Chr12:48374336 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2267G>T (p.Gly756Val) single nucleotide variant not provided [RCV002889927] Chr12:47982536 [GRCh38]
Chr12:48376319 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.310-1G>A single nucleotide variant not provided [RCV002853185] Chr12:47998202 [GRCh38]
Chr12:48391985 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.870+19A>C single nucleotide variant not provided [RCV002642403] Chr12:47993975 [GRCh38]
Chr12:48387758 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2947_2948dup (p.Gly984fs) duplication not provided [RCV002852660] Chr12:47978345..47978346 [GRCh38]
Chr12:48372128..48372129 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1598G>A (p.Arg533Gln) single nucleotide variant not provided [RCV002667798] Chr12:47985810 [GRCh38]
Chr12:48379593 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3551T>C (p.Ile1184Thr) single nucleotide variant not provided [RCV002597036] Chr12:47976009 [GRCh38]
Chr12:48369792 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.4218C>A (p.Asn1406Lys) single nucleotide variant not provided [RCV002642907] Chr12:47974188 [GRCh38]
Chr12:48367971 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2312G>C (p.Gly771Ala) single nucleotide variant not provided [RCV003058375] Chr12:47982150 [GRCh38]
Chr12:48375933 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3131G>C (p.Gly1044Ala) single nucleotide variant not provided [RCV002931922] Chr12:47977634 [GRCh38]
Chr12:48371417 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2679+20C>A single nucleotide variant not provided [RCV002711641] Chr12:47979989 [GRCh38]
Chr12:48373772 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2281G>T (p.Ala761Ser) single nucleotide variant not provided [RCV003026179] Chr12:47982522 [GRCh38]
Chr12:48376305 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2901C>G (p.Ala967=) single nucleotide variant not provided [RCV003042339] Chr12:47978393 [GRCh38]
Chr12:48372176 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.64C>A (p.Arg22=) single nucleotide variant not provided [RCV002875530] Chr12:48004258 [GRCh38]
Chr12:48398041 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2673C>T (p.Gly891=) single nucleotide variant not provided [RCV002711693] Chr12:47980015 [GRCh38]
Chr12:48373798 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2673C>A (p.Gly891=) single nucleotide variant not provided [RCV002593805] Chr12:47980015 [GRCh38]
Chr12:48373798 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3131del (p.Gly1044fs) deletion not provided [RCV003039834] Chr12:47977634 [GRCh38]
Chr12:48371417 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.717G>C (p.Met239Ile) single nucleotide variant not provided [RCV002982629] Chr12:47995300 [GRCh38]
Chr12:48389083 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3237T>C (p.Ala1079=) single nucleotide variant not provided [RCV003006326] Chr12:47977356 [GRCh38]
Chr12:48371139 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2217C>T (p.Pro739=) single nucleotide variant not provided [RCV002700505] Chr12:47982586 [GRCh38]
Chr12:48376369 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2939G>A (p.Arg980Lys) single nucleotide variant not provided [RCV002508504] Chr12:47978355 [GRCh38]
Chr12:48372138 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4318-23CCT[2] microsatellite not provided [RCV002593610] Chr12:47973568..47973570 [GRCh38]
Chr12:48367351..48367353 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1221C>G (p.Ser407=) single nucleotide variant not provided [RCV002800995] Chr12:47987611 [GRCh38]
Chr12:48381394 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.486C>A (p.Gly162=) single nucleotide variant not provided [RCV002711441] Chr12:47997651 [GRCh38]
Chr12:48391434 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2967T>C (p.Arg989=) single nucleotide variant not provided [RCV003006225] Chr12:47978327 [GRCh38]
Chr12:48372110 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.796A>G (p.Arg266Gly) single nucleotide variant not provided [RCV003042199] Chr12:47994444 [GRCh38]
Chr12:48388227 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1930C>A (p.Pro644Thr) single nucleotide variant not provided [RCV003022843] Chr12:47984098 [GRCh38]
Chr12:48377881 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.179G>C (p.Gly60Ala) single nucleotide variant not provided [RCV003005164] Chr12:48000032 [GRCh38]
Chr12:48393815 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.870+13G>T single nucleotide variant not provided [RCV002741802] Chr12:47993981 [GRCh38]
Chr12:48387764 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.609+10G>T single nucleotide variant not provided [RCV002573774] Chr12:47996538 [GRCh38]
Chr12:48390321 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.450C>G (p.Gly150=) single nucleotide variant not provided [RCV002710118] Chr12:47997687 [GRCh38]
Chr12:48391470 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2668C>T (p.Gln890Ter) single nucleotide variant not provided [RCV002872610] Chr12:47980020 [GRCh38]
Chr12:48373803 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4075-7C>T single nucleotide variant not provided [RCV002852568] Chr12:47974338 [GRCh38]
Chr12:48368121 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1957C>A (p.Arg653=) single nucleotide variant not provided [RCV003039929] Chr12:47983721 [GRCh38]
Chr12:48377504 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.250del (p.Glu84fs) deletion not provided [RCV002889942] Chr12:47999961 [GRCh38]
Chr12:48393744 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1582-2A>T single nucleotide variant not provided [RCV002890963] Chr12:47985828 [GRCh38]
Chr12:48379611 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1989G>A (p.Gly663=) single nucleotide variant not provided [RCV002852434] Chr12:47983689 [GRCh38]
Chr12:48377472 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3489+11T>C single nucleotide variant not provided [RCV002786703] Chr12:47976503 [GRCh38]
Chr12:48370286 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.813T>C (p.Pro271=) single nucleotide variant not provided [RCV003023516] Chr12:47994427 [GRCh38]
Chr12:48388210 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2863G>T (p.Glu955Ter) single nucleotide variant not provided [RCV002893942] Chr12:47978629 [GRCh38]
Chr12:48372412 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4299C>T (p.Ala1433=) single nucleotide variant not provided [RCV002957903] Chr12:47974107 [GRCh38]
Chr12:48367890 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.334A>G (p.Ile112Val) single nucleotide variant not provided [RCV003043051] Chr12:47998177 [GRCh38]
Chr12:48391960 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2072C>G (p.Ala691Gly) single nucleotide variant not provided [RCV002711375] Chr12:47983115 [GRCh38]
Chr12:48376898 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1887+16C>T single nucleotide variant not provided [RCV002700499] Chr12:47984530 [GRCh38]
Chr12:48378313 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.846C>T (p.Gly282=) single nucleotide variant not provided [RCV002766230] Chr12:47994018 [GRCh38]
Chr12:48387801 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3802A>C (p.Ser1268Arg) single nucleotide variant not provided [RCV002786544] Chr12:47975401 [GRCh38]
Chr12:48369184 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2679+13T>A single nucleotide variant not provided [RCV002801224] Chr12:47979996 [GRCh38]
Chr12:48373779 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1419+14C>T single nucleotide variant not provided [RCV003040835] Chr12:47986821 [GRCh38]
Chr12:48380604 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2545G>T (p.Gly849Cys) single nucleotide variant not provided [RCV003041744] Chr12:47980634 [GRCh38]
Chr12:48374417 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2599G>A (p.Gly867Ser) single nucleotide variant not provided [RCV002852746] Chr12:47980580 [GRCh38]
Chr12:48374363 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3513C>A (p.Pro1171=) single nucleotide variant not provided [RCV002786592] Chr12:47976047 [GRCh38]
Chr12:48369830 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3194G>A (p.Gly1065Glu) single nucleotide variant not provided [RCV003042625] Chr12:47977399 [GRCh38]
Chr12:48371182 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.86-1G>C single nucleotide variant not provided [RCV002894373] Chr12:48000126 [GRCh38]
Chr12:48393909 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4266G>A (p.Arg1422=) single nucleotide variant not provided [RCV002596917] Chr12:47974140 [GRCh38]
Chr12:48367923 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+13C>T single nucleotide variant not provided [RCV002871865] Chr12:48004224 [GRCh38]
Chr12:48398007 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003+6T>A single nucleotide variant COL2A1-related disorder [RCV004529177]|not provided [RCV002871872] Chr12:47978285 [GRCh38]
Chr12:48372068 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.827G>A (p.Gly276Asp) single nucleotide variant not provided [RCV003041151] Chr12:47994037 [GRCh38]
Chr12:48387820 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.817-9G>A single nucleotide variant not provided [RCV003041153] Chr12:47994056 [GRCh38]
Chr12:48387839 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2200T>A (p.Ser734Thr) single nucleotide variant not provided [RCV002623553] Chr12:47982603 [GRCh38]
Chr12:48376386 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2343G>A (p.Lys781=) single nucleotide variant not provided [RCV002801873] Chr12:47982119 [GRCh38]
Chr12:48375902 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2049+4_2049+5insCCAGGTGT insertion not provided [RCV003057352] Chr12:47983380..47983381 [GRCh38]
Chr12:48377163..48377164 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3928G>A (p.Ala1310Thr) single nucleotide variant not provided [RCV002985665] Chr12:47974821 [GRCh38]
Chr12:48368604 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1584A>G (p.Gly528=) single nucleotide variant not provided [RCV003057595] Chr12:47985824 [GRCh38]
Chr12:48379607 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3327+6T>C single nucleotide variant not provided [RCV002745493] Chr12:47977096 [GRCh38]
Chr12:48370879 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2409+10G>C single nucleotide variant not provided [RCV002876527] Chr12:47981766 [GRCh38]
Chr12:48375549 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4142_4143insCCACGGACGTAGA (p.Ser1382fs) insertion not provided [RCV002850968] Chr12:47974263..47974264 [GRCh38]
Chr12:48368046..48368047 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3997A>C (p.Lys1333Gln) single nucleotide variant not provided [RCV002508561] Chr12:47974752 [GRCh38]
Chr12:48368535 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4351G>A (p.Glu1451Lys) single nucleotide variant not provided [RCV002642881] Chr12:47973520 [GRCh38]
Chr12:48367303 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.969+11A>G single nucleotide variant not provided [RCV003023909] Chr12:47993447 [GRCh38]
Chr12:48387230 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3961G>T (p.Glu1321Ter) single nucleotide variant not provided [RCV003059231] Chr12:47974788 [GRCh38]
Chr12:48368571 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1870G>C (p.Gly624Arg) single nucleotide variant not provided [RCV002852947] Chr12:47984563 [GRCh38]
Chr12:48378346 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3744G>A (p.Leu1248=) single nucleotide variant not provided [RCV002790648] Chr12:47975459 [GRCh38]
Chr12:48369242 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3387G>T (p.Leu1129=) single nucleotide variant not provided [RCV002918598] Chr12:47976860 [GRCh38]
Chr12:48370643 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1795C>T (p.Pro599Ser) single nucleotide variant not provided [RCV002828654] Chr12:47985033 [GRCh38]
Chr12:48378816 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1069-2A>G single nucleotide variant not provided [RCV003058377] Chr12:47989283 [GRCh38]
Chr12:48383066 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2785A>T (p.Lys929Ter) single nucleotide variant not provided [RCV002852294] Chr12:47978707 [GRCh38]
Chr12:48372490 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1944A>T (p.Gly648=) single nucleotide variant not provided [RCV002700524] Chr12:47983734 [GRCh38]
Chr12:48377517 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.610-5T>A single nucleotide variant not provided [RCV002851941] Chr12:47995924 [GRCh38]
Chr12:48389707 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.405G>C (p.Gly135=) single nucleotide variant not provided [RCV002894093] Chr12:47997895 [GRCh38]
Chr12:48391678 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3075T>C (p.Pro1025=) single nucleotide variant not provided [RCV002765684] Chr12:47978046 [GRCh38]
Chr12:48371829 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1419+4A>G single nucleotide variant not provided [RCV002957247] Chr12:47986831 [GRCh38]
Chr12:48380614 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1222-15T>G single nucleotide variant not provided [RCV003025128] Chr12:47987328 [GRCh38]
Chr12:48381111 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1419+13C>A single nucleotide variant not provided [RCV003040511] Chr12:47986822 [GRCh38]
Chr12:48380605 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3630del (p.Pro1211fs) deletion not provided [RCV002893925] Chr12:47975573 [GRCh38]
Chr12:48369356 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.180G>C (p.Gly60=) single nucleotide variant not provided [RCV002894503] Chr12:48000031 [GRCh38]
Chr12:48393814 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2119C>T (p.Arg707Cys) single nucleotide variant not provided [RCV002929115] Chr12:47982922 [GRCh38]
Chr12:48376705 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2050G>C (p.Gly684Arg) single nucleotide variant not provided [RCV003041148] Chr12:47983137 [GRCh38]
Chr12:48376920 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1023+3_1023+6del deletion not provided [RCV003041149] Chr12:47992872..47992875 [GRCh38]
Chr12:48386655..48386658 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.817-1G>C single nucleotide variant not provided [RCV003041152] Chr12:47994048 [GRCh38]
Chr12:48387831 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2095-4G>T single nucleotide variant not provided [RCV002928192] Chr12:47982950 [GRCh38]
Chr12:48376733 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2809C>G (p.Pro937Ala) single nucleotide variant not provided [RCV003023177] Chr12:47978683 [GRCh38]
Chr12:48372466 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1183C>A (p.Pro395Thr) single nucleotide variant not provided [RCV002766802] Chr12:47987649 [GRCh38]
Chr12:48381432 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3686G>C (p.Arg1229Thr) single nucleotide variant not provided [RCV002666589] Chr12:47975517 [GRCh38]
Chr12:48369300 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1034G>T (p.Gly345Val) single nucleotide variant not provided [RCV002872229] Chr12:47989795 [GRCh38]
Chr12:48383578 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.157del (p.Arg53fs) deletion not provided [RCV002872710] Chr12:48000054 [GRCh38]
Chr12:48393837 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3707T>C (p.Leu1236Pro) single nucleotide variant not provided [RCV002572829] Chr12:47975496 [GRCh38]
Chr12:48369279 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1790G>A (p.Gly597Glu) single nucleotide variant Inborn genetic diseases [RCV002702595] Chr12:47985038 [GRCh38]
Chr12:48378821 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4240C>T (p.Gln1414Ter) single nucleotide variant not provided [RCV002877522] Chr12:47974166 [GRCh38]
Chr12:48367949 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1579A>G (p.Lys527Glu) single nucleotide variant not provided [RCV002581384] Chr12:47985914 [GRCh38]
Chr12:48379697 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1024-1G>A single nucleotide variant not provided [RCV003047161] Chr12:47989806 [GRCh38]
Chr12:48383589 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.654+15T>A single nucleotide variant not provided [RCV002721126] Chr12:47995860 [GRCh38]
Chr12:48389643 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.113G>A (p.Gly38Glu) single nucleotide variant not provided [RCV003063856] Chr12:48000098 [GRCh38]
Chr12:48393881 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2111_2112insGGGTGAACGAGGTTTCCT (p.Gly708_Ser709insPheLeuGlyGluArgGly) insertion not provided [RCV003031679] Chr12:47982929..47982930 [GRCh38]
Chr12:48376712..48376713 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3703C>A (p.Pro1235Thr) single nucleotide variant not provided [RCV002631035] Chr12:47975500 [GRCh38]
Chr12:48369283 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4170C>T (p.Thr1390=) single nucleotide variant not provided [RCV003029888] Chr12:47974236 [GRCh38]
Chr12:48368019 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2833G>C (p.Gly945Arg) single nucleotide variant not provided [RCV003009755] Chr12:47978659 [GRCh38]
Chr12:48372442 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1602G>T (p.Gly534=) single nucleotide variant not provided [RCV002810852] Chr12:47985806 [GRCh38]
Chr12:48379589 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2808C>A (p.Gly936=) single nucleotide variant not provided [RCV002967276] Chr12:47978684 [GRCh38]
Chr12:48372467 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+18A>C single nucleotide variant not provided [RCV003063949] Chr12:47987251 [GRCh38]
Chr12:48381034 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3189dup (p.Val1064fs) duplication not provided [RCV002937587] Chr12:47977403..47977404 [GRCh38]
Chr12:48371186..48371187 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3825C>T (p.Ser1275=) single nucleotide variant not provided [RCV003031329] Chr12:47975378 [GRCh38]
Chr12:48369161 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1131C>T (p.Ala377=) single nucleotide variant not provided [RCV002966275] Chr12:47987701 [GRCh38]
Chr12:48381484 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3852A>G (p.Arg1284=) single nucleotide variant not provided [RCV003027621] Chr12:47975351 [GRCh38]
Chr12:48369134 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3887-7C>G single nucleotide variant not provided [RCV002720346] Chr12:47974869 [GRCh38]
Chr12:48368652 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2506G>T (p.Ala836Ser) single nucleotide variant Inborn genetic diseases [RCV002650825]|not provided [RCV002650824] Chr12:47980926 [GRCh38]
Chr12:48374709 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.863G>A (p.Gly288Asp) single nucleotide variant not provided [RCV003049398] Chr12:47994001 [GRCh38]
Chr12:48387784 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3724G>A (p.Asp1242Asn) single nucleotide variant not provided [RCV002630345] Chr12:47975479 [GRCh38]
Chr12:48369262 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.733C>T (p.Pro245Ser) single nucleotide variant not provided [RCV002966812] Chr12:47995284 [GRCh38]
Chr12:48389067 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3137C>T (p.Pro1046Leu) single nucleotide variant not provided [RCV003049106] Chr12:47977628 [GRCh38]
Chr12:48371411 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1582-17C>G single nucleotide variant not provided [RCV002721298] Chr12:47985843 [GRCh38]
Chr12:48379626 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3107G>T (p.Arg1036Leu) single nucleotide variant not provided [RCV003064208] Chr12:47978014 [GRCh38]
Chr12:48371797 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.709-13C>T single nucleotide variant not provided [RCV002577921] Chr12:47995321 [GRCh38]
Chr12:48389104 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.135T>G (p.Asp45Glu) single nucleotide variant not provided [RCV002716389] Chr12:48000076 [GRCh38]
Chr12:48393859 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.293-18A>G single nucleotide variant not provided [RCV002721029] Chr12:47998449 [GRCh38]
Chr12:48392232 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4317+13G>T single nucleotide variant not provided [RCV002645885] Chr12:47974076 [GRCh38]
Chr12:48367859 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3699del (p.Asp1234fs) deletion not provided [RCV003026807] Chr12:47975504 [GRCh38]
Chr12:48369287 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.610-8C>A single nucleotide variant not provided [RCV003046035] Chr12:47995927 [GRCh38]
Chr12:48389710 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2704G>C (p.Ala902Pro) single nucleotide variant not provided [RCV003048843] Chr12:47979540 [GRCh38]
Chr12:48373323 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3137dup (p.Gly1047fs) duplication not provided [RCV003062493] Chr12:47977627..47977628 [GRCh38]
Chr12:48371410..48371411 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3111+1G>T single nucleotide variant not provided [RCV003062494] Chr12:47978009 [GRCh38]
Chr12:48371792 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1106G>A (p.Gly369Asp) single nucleotide variant not provided [RCV003062504] Chr12:47989244 [GRCh38]
Chr12:48383027 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.429+12G>A single nucleotide variant not provided [RCV002676189] Chr12:47997859 [GRCh38]
Chr12:48391642 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2874G>A (p.Glu958=) single nucleotide variant not provided [RCV003049015] Chr12:47978618 [GRCh38]
Chr12:48372401 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2804G>A (p.Ser935Asn) single nucleotide variant not provided [RCV002791767] Chr12:47978688 [GRCh38]
Chr12:48372471 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3631_3648dup (p.Pro1216_Gly1217insProGlyProProGlyPro) duplication not provided [RCV002857541] Chr12:47975554..47975555 [GRCh38]
Chr12:48369337..48369338 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.924+20A>G single nucleotide variant not provided [RCV002898601] Chr12:47993789 [GRCh38]
Chr12:48387572 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3373G>A (p.Gly1125Ser) single nucleotide variant not provided [RCV003045065] Chr12:47976874 [GRCh38]
Chr12:48370657 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1226A>G (p.Asn409Ser) single nucleotide variant not provided [RCV003010100] Chr12:47987309 [GRCh38]
Chr12:48381092 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.310-20G>A single nucleotide variant not provided [RCV003028022] Chr12:47998221 [GRCh38]
Chr12:48392004 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-7C>T single nucleotide variant not provided [RCV002898931] Chr12:47978124 [GRCh38]
Chr12:48371907 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.817-5T>G single nucleotide variant not provided [RCV003046620] Chr12:47994052 [GRCh38]
Chr12:48387835 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.643G>A (p.Ala215Thr) single nucleotide variant not provided [RCV002961879] Chr12:47995886 [GRCh38]
Chr12:48389669 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3021G>A (p.Gln1007=) single nucleotide variant not provided [RCV002857612] Chr12:47978100 [GRCh38]
Chr12:48371883 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.532-17G>A single nucleotide variant not provided [RCV002937401] Chr12:47996642 [GRCh38]
Chr12:48390425 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2711G>T (p.Arg904Leu) single nucleotide variant not provided [RCV002833582] Chr12:47979533 [GRCh38]
Chr12:48373316 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.924+19del deletion not provided [RCV003029336] Chr12:47993790 [GRCh38]
Chr12:48387573 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1423C>T (p.Pro475Ser) single nucleotide variant not provided [RCV003043915] Chr12:47986440 [GRCh38]
Chr12:48380223 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3810C>T (p.Arg1270=) single nucleotide variant not provided [RCV003045549] Chr12:47975393 [GRCh38]
Chr12:48369176 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.293-8C>T single nucleotide variant not provided [RCV002937164] Chr12:47998439 [GRCh38]
Chr12:48392222 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4074+16C>T single nucleotide variant not provided [RCV003046696] Chr12:47974659 [GRCh38]
Chr12:48368442 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.396A>G (p.Gly132=) single nucleotide variant not provided [RCV002597848] Chr12:47997904 [GRCh38]
Chr12:48391687 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2376C>G (p.Gly792=) single nucleotide variant not provided [RCV003045174] Chr12:47981809 [GRCh38]
Chr12:48375592 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4455CTT[1] (p.Phe1486del) microsatellite not provided [RCV003062491] Chr12:47973411..47973413 [GRCh38]
Chr12:48367194..48367196 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1120A>C (p.Lys374Gln) single nucleotide variant Inborn genetic diseases [RCV002935287] Chr12:47989230 [GRCh38]
Chr12:48383013 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2976_2977del (p.Gly993fs) microsatellite not provided [RCV003062495] Chr12:47978317..47978318 [GRCh38]
Chr12:48372100..48372101 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2813dup (p.Gly939fs) duplication not provided [RCV003062496] Chr12:47978678..47978679 [GRCh38]
Chr12:48372461..48372462 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2600G>A (p.Gly867Asp) single nucleotide variant Platyspondylic dysplasia, Torrance type [RCV003314051]|not provided [RCV003062498] Chr12:47980579 [GRCh38]
Chr12:48374362 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1681G>A (p.Gly561Ser) single nucleotide variant not provided [RCV003062499] Chr12:47985587 [GRCh38]
Chr12:48379370 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1386C>T (p.Gly462=) single nucleotide variant not provided [RCV002598334] Chr12:47986868 [GRCh38]
Chr12:48380651 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.970-7G>A single nucleotide variant not provided [RCV002578056] Chr12:47992938 [GRCh38]
Chr12:48386721 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2409+10G>A single nucleotide variant not provided [RCV002716879] Chr12:47981766 [GRCh38]
Chr12:48375549 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3702C>T (p.Asp1234=) single nucleotide variant not provided [RCV002898669] Chr12:47975501 [GRCh38]
Chr12:48369284 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-19G>T single nucleotide variant not provided [RCV003030944] Chr12:47977174 [GRCh38]
Chr12:48370957 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.430-2A>T single nucleotide variant not provided [RCV002877453] Chr12:47997709 [GRCh38]
Chr12:48391492 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2720C>T (p.Pro907Leu) single nucleotide variant not provided [RCV002670954] Chr12:47979524 [GRCh38]
Chr12:48373307 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3328-19G>A single nucleotide variant not provided [RCV002578331] Chr12:47976938 [GRCh38]
Chr12:48370721 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4075-18C>T single nucleotide variant not provided [RCV002578335] Chr12:47974349 [GRCh38]
Chr12:48368132 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.708+15G>A single nucleotide variant not provided [RCV002600522] Chr12:47995695 [GRCh38]
Chr12:48389478 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2818C>A (p.Arg940=) single nucleotide variant not provided [RCV002834578] Chr12:47978674 [GRCh38]
Chr12:48372457 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3364G>A (p.Gly1122Arg) single nucleotide variant not provided [RCV003062492] Chr12:47976883 [GRCh38]
Chr12:48370666 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2760del (p.Gly921fs) deletion not provided [RCV003062497] Chr12:47978732 [GRCh38]
Chr12:48372515 [GRCh37]
Chr12:12q13.11		 pathogenic
NC_000012.12:g.47998432del deletion not provided [RCV003062506] Chr12:47998430 [GRCh38]
Chr12:48392213 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2471G>A (p.Arg824His) single nucleotide variant not provided [RCV002578746] Chr12:47980961 [GRCh38]
Chr12:48374744 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1222-10C>G single nucleotide variant not provided [RCV003045395] Chr12:47987323 [GRCh38]
Chr12:48381106 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.163del (p.Cys55fs) deletion not provided [RCV002835382] Chr12:48000048 [GRCh38]
Chr12:48393831 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2477A>T (p.Glu826Val) single nucleotide variant not provided [RCV003047052] Chr12:47980955 [GRCh38]
Chr12:48374738 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3569G>A (p.Arg1190His) single nucleotide variant not provided [RCV002600908] Chr12:47975991 [GRCh38]
Chr12:48369774 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2755C>G (p.Pro919Ala) single nucleotide variant not provided [RCV002811601] Chr12:47978737 [GRCh38]
Chr12:48372520 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4317G>A (p.Thr1439=) single nucleotide variant not provided [RCV002598261] Chr12:47974089 [GRCh38]
Chr12:48367872 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2500_2501delinsAA (p.Gly834Lys) indel not provided [RCV002937326] Chr12:47980931..47980932 [GRCh38]
Chr12:48374714..48374715 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.3407C>T (p.Thr1136Ile) single nucleotide variant not provided [RCV002899298] Chr12:47976840 [GRCh38]
Chr12:48370623 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3343A>G (p.Arg1115Gly) single nucleotide variant not provided [RCV002810100] Chr12:47976904 [GRCh38]
Chr12:48370687 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.102T>A (p.Cys34Ter) single nucleotide variant not provided [RCV003046197] Chr12:48000109 [GRCh38]
Chr12:48393892 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.701G>A (p.Gly234Asp) single nucleotide variant not provided [RCV003046639] Chr12:47995717 [GRCh38]
Chr12:48389500 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2464-7C>G single nucleotide variant not provided [RCV002834748] Chr12:47980975 [GRCh38]
Chr12:48374758 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2647C>T (p.Pro883Ser) single nucleotide variant not provided [RCV003030465] Chr12:47980041 [GRCh38]
Chr12:48373824 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1888-18_1888-14dup duplication not provided [RCV002933939] Chr12:47984153..47984154 [GRCh38]
Chr12:48377936..48377937 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2082C>T (p.Leu694=) single nucleotide variant not provided [RCV002675821] Chr12:47983105 [GRCh38]
Chr12:48376888 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1365+20C>A single nucleotide variant not provided [RCV002899446] Chr12:47987058 [GRCh38]
Chr12:48380841 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.743del (p.Pro248fs) deletion not provided [RCV003061972] Chr12:47995274 [GRCh38]
Chr12:48389057 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.970-2A>G single nucleotide variant not provided [RCV003029646] Chr12:47992933 [GRCh38]
Chr12:48386716 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2734G>A (p.Gly912Ser) single nucleotide variant not provided [RCV002791623] Chr12:47978758 [GRCh38]
Chr12:48372541 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2302-20C>T single nucleotide variant not provided [RCV002576494] Chr12:47982180 [GRCh38]
Chr12:48375963 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2102G>A (p.Arg701Gln) single nucleotide variant not provided [RCV002647042] Chr12:47982939 [GRCh38]
Chr12:48376722 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1581+18G>A single nucleotide variant not provided [RCV002899036] Chr12:47985894 [GRCh38]
Chr12:48379677 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2563G>A (p.Gly855Ser) single nucleotide variant not provided [RCV002649449] Chr12:47980616 [GRCh38]
Chr12:48374399 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4075-17G>C single nucleotide variant not provided [RCV002811158] Chr12:47974348 [GRCh38]
Chr12:48368131 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2746_2753dup (p.Pro920fs) duplication not provided [RCV002898690] Chr12:47978738..47978739 [GRCh38]
Chr12:48372521..48372522 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2381C>T (p.Pro794Leu) single nucleotide variant not provided [RCV002627568] Chr12:47981804 [GRCh38]
Chr12:48375587 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.946G>A (p.Glu316Lys) single nucleotide variant not provided [RCV003047749] Chr12:47993481 [GRCh38]
Chr12:48387264 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2734-20C>T single nucleotide variant not provided [RCV003043945] Chr12:47978778 [GRCh38]
Chr12:48372561 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.703G>T (p.Val235Phe) single nucleotide variant not provided [RCV003028202] Chr12:47995715 [GRCh38]
Chr12:48389498 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3784C>T (p.Leu1262Phe) single nucleotide variant not provided [RCV002966170] Chr12:47975419 [GRCh38]
Chr12:48369202 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1475G>A (p.Gly492Asp) single nucleotide variant not provided [RCV003062500] Chr12:47986388 [GRCh38]
Chr12:48380171 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.1366-1G>C single nucleotide variant not provided [RCV003062503] Chr12:47986889 [GRCh38]
Chr12:48380672 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.656G>A (p.Gly219Glu) single nucleotide variant not provided [RCV003062505] Chr12:47995762 [GRCh38]
Chr12:48389545 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.123T>A (p.Tyr41Ter) single nucleotide variant not provided [RCV003062507] Chr12:48000088 [GRCh38]
Chr12:48393871 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3227del (p.Pro1076fs) deletion not provided [RCV002937226] Chr12:47977366 [GRCh38]
Chr12:48371149 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2233_2234del (p.Pro745fs) deletion not provided [RCV002898807] Chr12:47982569..47982570 [GRCh38]
Chr12:48376352..48376353 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1306C>T (p.Pro436Ser) single nucleotide variant not provided [RCV002746184] Chr12:47987137 [GRCh38]
Chr12:48380920 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.222C>G (p.Asp74Glu) single nucleotide variant not provided [RCV002937290] Chr12:47999989 [GRCh38]
Chr12:48393772 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3585A>G (p.Glu1195=) single nucleotide variant not provided [RCV002834654] Chr12:47975975 [GRCh38]
Chr12:48369758 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2494C>G (p.Pro832Ala) single nucleotide variant not provided [RCV002721031] Chr12:47980938 [GRCh38]
Chr12:48374721 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu) single nucleotide variant not provided [RCV002717097] Chr12:47996555 [GRCh38]
Chr12:48390338 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.2302-10C>G single nucleotide variant not provided [RCV002716278] Chr12:47982170 [GRCh38]
Chr12:48375953 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2219C>G (p.Pro740Arg) single nucleotide variant not provided [RCV003061876] Chr12:47982584 [GRCh38]
Chr12:48376367 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1859del (p.Lys620fs) deletion not provided [RCV002899378] Chr12:47984574 [GRCh38]
Chr12:48378357 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2589del (p.Gly864fs) deletion not provided [RCV003031616] Chr12:47980590 [GRCh38]
Chr12:48374373 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.982C>T (p.Leu328=) single nucleotide variant not provided [RCV002600320] Chr12:47992919 [GRCh38]
Chr12:48386702 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4380C>T (p.Leu1460=) single nucleotide variant not provided [RCV003061919] Chr12:47973491 [GRCh38]
Chr12:48367274 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.376-15G>A single nucleotide variant not provided [RCV003009056] Chr12:47997939 [GRCh38]
Chr12:48391722 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1995+7G>A single nucleotide variant not provided [RCV003027486] Chr12:47983676 [GRCh38]
Chr12:48377459 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4121A>T (p.Gln1374Leu) single nucleotide variant not provided [RCV002833300] Chr12:47974285 [GRCh38]
Chr12:48368068 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV003049846] Chr12:48004321 [GRCh38]
Chr12:48398104 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1101C>T (p.Phe367=) single nucleotide variant not provided [RCV003050245] Chr12:47989249 [GRCh38]
Chr12:48383032 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1944A>G (p.Gly648=) single nucleotide variant not provided [RCV002635594] Chr12:47983734 [GRCh38]
Chr12:48377517 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1887+5G>A single nucleotide variant not provided [RCV003032252] Chr12:47984541 [GRCh38]
Chr12:48378324 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.570G>A (p.Lys190=) single nucleotide variant not provided [RCV002635253] Chr12:47996587 [GRCh38]
Chr12:48390370 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.655-18C>T single nucleotide variant not provided [RCV003051649] Chr12:47995781 [GRCh38]
Chr12:48389564 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2410-20C>T single nucleotide variant not provided [RCV002604964] Chr12:47981416 [GRCh38]
Chr12:48375199 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1995+11G>A single nucleotide variant not provided [RCV002658276] Chr12:47983672 [GRCh38]
Chr12:48377455 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4082A>G (p.Tyr1361Cys) single nucleotide variant not provided [RCV002635350] Chr12:47974324 [GRCh38]
Chr12:48368107 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2131G>A (p.Gly711Ser) single nucleotide variant not provided [RCV003052477] Chr12:47982910 [GRCh38]
Chr12:48376693 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.105G>C (p.Val35=) single nucleotide variant not provided [RCV002634884] Chr12:48000106 [GRCh38]
Chr12:48393889 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4378C>T (p.Leu1460Phe) single nucleotide variant not provided [RCV003052414] Chr12:47973493 [GRCh38]
Chr12:48367276 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1833+9T>C single nucleotide variant not provided [RCV002634653] Chr12:47984986 [GRCh38]
Chr12:48378769 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3349G>C (p.Asp1117His) single nucleotide variant not provided [RCV003149300] Chr12:47976898 [GRCh38]
Chr12:48370681 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2223G>A (p.Gly741=) single nucleotide variant not provided [RCV003049616] Chr12:47982580 [GRCh38]
Chr12:48376363 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser) single nucleotide variant Stickler syndrome type 1 [RCV003989800]|not provided [RCV003050291] Chr12:47982883 [GRCh38]
Chr12:48376666 [GRCh37]
Chr12:12q13.11		 likely pathogenic|uncertain significance
NM_001844.5(COL2A1):c.1260A>C (p.Gly420=) single nucleotide variant not provided [RCV002944207] Chr12:47987275 [GRCh38]
Chr12:48381058 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.550G>T (p.Ala184Ser) single nucleotide variant not provided [RCV003070340] Chr12:47996607 [GRCh38]
Chr12:48390390 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1963G>A (p.Glu655Lys) single nucleotide variant not provided [RCV002586007] Chr12:47983715 [GRCh38]
Chr12:48377498 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4015AGCAAG[1] (p.1339SK[1]) microsatellite COL2A1-related disorder [RCV004534149]|not provided [RCV002609863] Chr12:47974723..47974728 [GRCh38]
Chr12:48368506..48368511 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3642T>C (p.Pro1214=) single nucleotide variant not provided [RCV002584392] Chr12:47975561 [GRCh38]
Chr12:48369344 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2169C>T (p.Gly723=) single nucleotide variant COL2A1-related disorder [RCV004736265]|not provided [RCV003072992] Chr12:47982872 [GRCh38]
Chr12:48376655 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1174C>T (p.Arg392Cys) single nucleotide variant not provided [RCV002610044] Chr12:47987658 [GRCh38]
Chr12:48381441 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4150G>A (p.Glu1384Lys) single nucleotide variant Inborn genetic diseases [RCV002608690]|not provided [RCV002608689] Chr12:47974256 [GRCh38]
Chr12:48368039 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2403C>G (p.Gly801=) single nucleotide variant not provided [RCV002655058] Chr12:47981782 [GRCh38]
Chr12:48375565 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2980T>C (p.Phe994Leu) single nucleotide variant not provided [RCV002657898] Chr12:47978314 [GRCh38]
Chr12:48372097 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3949A>G (p.Met1317Val) single nucleotide variant not provided [RCV002607801] Chr12:47974800 [GRCh38]
Chr12:48368583 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1999C>A (p.Leu667Ile) single nucleotide variant Inborn genetic diseases [RCV004064389]|not provided [RCV002582761] Chr12:47983435 [GRCh38]
Chr12:48377218 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg) single nucleotide variant Inborn genetic diseases [RCV004065618]|not provided [RCV002590171] Chr12:47994455 [GRCh38]
Chr12:48388238 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2200del (p.Ser734fs) deletion not provided [RCV003049719] Chr12:47982603 [GRCh38]
Chr12:48376386 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3490-16C>A single nucleotide variant not provided [RCV002814327] Chr12:47976086 [GRCh38]
Chr12:48369869 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1069-15G>A single nucleotide variant COL2A1-related disorder [RCV004545354]|not provided [RCV002609040] Chr12:47989296 [GRCh38]
Chr12:48383079 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.610-5T>C single nucleotide variant not provided [RCV002609112] Chr12:47995924 [GRCh38]
Chr12:48389707 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.990T>C (p.Gly330=) single nucleotide variant not provided [RCV002721722] Chr12:47992911 [GRCh38]
Chr12:48386694 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+18C>T single nucleotide variant not provided [RCV002658068] Chr12:47997588 [GRCh38]
Chr12:48391371 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1480C>T (p.Arg494Cys) single nucleotide variant not provided [RCV002635351] Chr12:47986383 [GRCh38]
Chr12:48380166 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2214C>T (p.Gly738=) single nucleotide variant not provided [RCV002721320] Chr12:47982589 [GRCh38]
Chr12:48376372 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2951G>A (p.Gly984Asp) single nucleotide variant See cases [RCV003155543] Chr12:47978343 [GRCh38]
Chr12:48372126 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3287_3297del (p.Pro1096fs) deletion not provided [RCV003149470] Chr12:47977132..47977142 [GRCh38]
Chr12:48370915..48370925 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2302-1G>T single nucleotide variant Achondrogenesis type II [RCV003157996] Chr12:47982161 [GRCh38]
Chr12:48375944 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.944G>A (p.Gly315Asp) single nucleotide variant Avascular necrosis of femoral head, primary, 1 [RCV003158001] Chr12:47993483 [GRCh38]
Chr12:48387266 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1262C>G (p.Ser421Cys) single nucleotide variant not provided [RCV003228443] Chr12:47987273 [GRCh38]
Chr12:48381056 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1429G>C (p.Gly477Arg) single nucleotide variant not provided [RCV003222764] Chr12:47986434 [GRCh38]
Chr12:48380217 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3238G>C (p.Gly1080Arg) single nucleotide variant not provided [RCV003143619] Chr12:47977355 [GRCh38]
Chr12:48371138 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2518G>C (p.Gly840Arg) single nucleotide variant not provided [RCV003141680] Chr12:47980661 [GRCh38]
Chr12:48374444 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1450C>A (p.Pro484Thr) single nucleotide variant not provided [RCV003141681] Chr12:47986413 [GRCh38]
Chr12:48380196 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1499T>C (p.Val500Ala) single nucleotide variant not provided [RCV003141682] Chr12:47986364 [GRCh38]
Chr12:48380147 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.353C>T (p.Pro118Leu) single nucleotide variant not provided [RCV003141684] Chr12:47998054 [GRCh38]
Chr12:48391837 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1528-81G>A single nucleotide variant not provided [RCV003141687] Chr12:47986046 [GRCh38]
Chr12:48379829 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2593C>T (p.Pro865Ser) single nucleotide variant not provided [RCV003141688] Chr12:47980586 [GRCh38]
Chr12:48374369 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1382C>G (p.Ala461Gly) single nucleotide variant not provided [RCV003141683] Chr12:47986872 [GRCh38]
Chr12:48380655 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1103C>T (p.Pro368Leu) single nucleotide variant not provided [RCV003141685] Chr12:47989247 [GRCh38]
Chr12:48383030 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1802_1833+55del deletion Stickler syndrome type 1 [RCV003157998] Chr12:47984940..47985026 [GRCh38]
Chr12:48378723..48378809 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2545G>A (p.Gly849Ser) single nucleotide variant not provided [RCV003223965] Chr12:47980634 [GRCh38]
Chr12:48374417 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4222A>G (p.Lys1408Glu) single nucleotide variant Inborn genetic diseases [RCV003218223] Chr12:47974184 [GRCh38]
Chr12:48367967 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.406del (p.Asp136fs) deletion not provided [RCV003219058] Chr12:47997894 [GRCh38]
Chr12:48391677 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTACTTC indel Stickler syndrome type 1 [RCV003157997] Chr12:47993987..47993989 [GRCh38]
Chr12:48387770..48387772 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.146C>T (p.Pro49Leu) single nucleotide variant not provided [RCV003323196] Chr12:48000065 [GRCh38]
Chr12:48393848 [GRCh37]
Chr12:12q13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001844.5(COL2A1):c.3256G>A (p.Gly1086Arg) single nucleotide variant Spondyloepiphyseal dysplasia, Stanescu type [RCV003337795] Chr12:47977337 [GRCh38]
Chr12:48371120 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2401G>A (p.Gly801Ser) single nucleotide variant Achondrogenesis type II [RCV003328140] Chr12:47981784 [GRCh38]
Chr12:48375567 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.278T>G (p.Leu93Arg) single nucleotide variant COL2A1-related disorder [RCV004536703] Chr12:47999933 [GRCh38]
Chr12:48393716 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3180_3188del (p.Glu1060_Ala1063delinsAsp) deletion Spondyloperipheral dysplasia [RCV003455896] Chr12:47977405..47977413 [GRCh38]
Chr12:48371188..48371196 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1754G>A (p.Gly585Asp) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV003459034] Chr12:47985074 [GRCh38]
Chr12:48378857 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4254del (p.Asp1418fs) deletion not provided [RCV003571180] Chr12:47974152 [GRCh38]
Chr12:48367935 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.519T>C (p.Pro173=) single nucleotide variant not provided [RCV003543686] Chr12:47997618 [GRCh38]
Chr12:48391401 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1004C>T (p.Thr335Ile) single nucleotide variant not provided [RCV003712614] Chr12:47992897 [GRCh38]
Chr12:48386680 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4352A>G (p.Glu1451Gly) single nucleotide variant not provided [RCV003875726] Chr12:47973519 [GRCh38]
Chr12:48367302 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1942-13_1942-9del microsatellite not provided [RCV003570075] Chr12:47983745..47983749 [GRCh38]
Chr12:48377528..48377532 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3277G>A (p.Ala1093Thr) single nucleotide variant not provided [RCV003543715] Chr12:47977152 [GRCh38]
Chr12:48370935 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1818C>T (p.Gly606=) single nucleotide variant not provided [RCV003874332] Chr12:47985010 [GRCh38]
Chr12:48378793 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.377_378dup (p.Pro127fs) duplication not provided [RCV003569771] Chr12:47997921..47997922 [GRCh38]
Chr12:48391704..48391705 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2095-14dup duplication not provided [RCV003543196] Chr12:47982959..47982960 [GRCh38]
Chr12:48376742..48376743 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2165C>T (p.Pro722Leu) single nucleotide variant not provided [RCV003569844] Chr12:47982876 [GRCh38]
Chr12:48376659 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3899T>C (p.Ile1300Thr) single nucleotide variant not provided [RCV003543393] Chr12:47974850 [GRCh38]
Chr12:48368633 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1666C>T (p.Leu556Phe) single nucleotide variant not provided [RCV003875406] Chr12:47985742 [GRCh38]
Chr12:48379525 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3501C>T (p.Gly1167=) single nucleotide variant not provided [RCV003571771] Chr12:47976059 [GRCh38]
Chr12:48369842 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.389A>G (p.Glu130Gly) single nucleotide variant not provided [RCV003570676] Chr12:47997911 [GRCh38]
Chr12:48391694 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47982160_47982161del deletion not provided [RCV003543753] Chr12:47982159..47982160 [GRCh38]
Chr12:48375942..48375943 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2329G>T (p.Gly777Ter) single nucleotide variant not provided [RCV003686340] Chr12:47982133 [GRCh38]
Chr12:48375916 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.140G>C (p.Trp47Ser) single nucleotide variant not provided [RCV003570181] Chr12:48000071 [GRCh38]
Chr12:48393854 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47986889del deletion not provided [RCV003543309] Chr12:47986887 [GRCh38]
Chr12:48380670 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.908G>T (p.Gly303Val) single nucleotide variant not provided [RCV003568937] Chr12:47993825 [GRCh38]
Chr12:48387608 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.890G>A (p.Gly297Asp) single nucleotide variant not provided [RCV003570613] Chr12:47993843 [GRCh38]
Chr12:48387626 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3583G>A (p.Glu1195Lys) single nucleotide variant not provided [RCV003490597] Chr12:47975977 [GRCh38]
Chr12:48369760 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1919C>A (p.Ala640Asp) single nucleotide variant not provided [RCV003482059] Chr12:47984109 [GRCh38]
Chr12:48377892 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.126del (p.Asn42fs) deletion not provided [RCV003691479] Chr12:48000085 [GRCh38]
Chr12:48393868 [GRCh37]
Chr12:12q13.11		 pathogenic
NC_000012.12:g.47987176_47987177del deletion not provided [RCV003571199] Chr12:47987175..47987176 [GRCh38]
Chr12:48380958..48380959 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2426C>T (p.Pro809Leu) single nucleotide variant not provided [RCV003571920] Chr12:47981380 [GRCh38]
Chr12:48375163 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.833C>T (p.Pro278Leu) single nucleotide variant not provided [RCV003686454] Chr12:47994031 [GRCh38]
Chr12:48387814 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3987A>C (p.Ala1329=) single nucleotide variant not provided [RCV003691163] Chr12:47974762 [GRCh38]
Chr12:48368545 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1734+9A>G single nucleotide variant not provided [RCV003569913] Chr12:47985525 [GRCh38]
Chr12:48379308 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3454G>A (p.Gly1152Ser) single nucleotide variant not provided [RCV003489341] Chr12:47976549 [GRCh38]
Chr12:48370332 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3278del (p.Ala1093fs) deletion not provided [RCV003569048] Chr12:47977151 [GRCh38]
Chr12:48370934 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.26C>G (p.Thr9Arg) single nucleotide variant Stickler syndrome type 1 [RCV004577117] Chr12:48004296 [GRCh38]
Chr12:48398079 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.86-46C>G single nucleotide variant not provided [RCV003391769] Chr12:48000171 [GRCh38]
Chr12:48393954 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.3401G>A (p.Gly1134Asp) single nucleotide variant not provided [RCV003441486] Chr12:47976846 [GRCh38]
Chr12:48370629 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2377C>T (p.Pro793Ser) single nucleotide variant not provided [RCV003441290] Chr12:47981808 [GRCh38]
Chr12:48375591 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2409+1G>A single nucleotide variant COL2A1-related disorder [RCV004531594] Chr12:47981775 [GRCh38]
Chr12:48375558 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2293G>A (p.Gly765Ser) single nucleotide variant Achondrogenesis type II [RCV003447778] Chr12:47982510 [GRCh38]
Chr12:48376293 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3919A>G (p.Thr1307Ala) single nucleotide variant not provided [RCV003691517] Chr12:47974830 [GRCh38]
Chr12:48368613 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2891C>T (p.Pro964Leu) single nucleotide variant not provided [RCV003442729] Chr12:47978601 [GRCh38]
Chr12:48372384 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.655-2A>G single nucleotide variant Stickler syndrome type 1 [RCV003388641] Chr12:47995765 [GRCh38]
Chr12:48389548 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.199A>T (p.Ile67Leu) single nucleotide variant COL2A1-related disorder [RCV004534359] Chr12:48000012 [GRCh38]
Chr12:48393795 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1524_1527del (p.Arg509fs) deletion COL2A1-related disorder [RCV004536637] Chr12:47986336..47986339 [GRCh38]
Chr12:48380119..48380122 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1834-1G>A single nucleotide variant COL2A1-related disorder [RCV004534389] Chr12:47984600 [GRCh38]
Chr12:48378383 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4400C>A (p.Pro1467His) single nucleotide variant COL2A1-related disorder [RCV004527946] Chr12:47973471 [GRCh38]
Chr12:48367254 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.494G>C (p.Gly165Ala) single nucleotide variant COL2A1-related disorder [RCV004528572] Chr12:47997643 [GRCh38]
Chr12:48391426 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1488G>T (p.Glu496Asp) single nucleotide variant COL2A1-related disorder [RCV004529773] Chr12:47986375 [GRCh38]
Chr12:48380158 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2162T>C (p.Leu721Pro) single nucleotide variant Retinitis pigmentosa [RCV003389601] Chr12:47982879 [GRCh38]
Chr12:48376662 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2679+1G>T single nucleotide variant COL2A1-related disorder [RCV004528034] Chr12:47980008 [GRCh38]
Chr12:48373791 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3165+80G>A single nucleotide variant not provided [RCV003390219] Chr12:47977520 [GRCh38]
Chr12:48371303 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1527+72G>A single nucleotide variant not provided [RCV003390220] Chr12:47986264 [GRCh38]
Chr12:48380047 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1581+1G>A single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV003444051] Chr12:47985911 [GRCh38]
Chr12:48379694 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1286G>A (p.Gly429Asp) single nucleotide variant COL2A1-related disorder [RCV004531617] Chr12:47987157 [GRCh38]
Chr12:48380940 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4152A>G (p.Glu1384=) single nucleotide variant not provided [RCV003391768] Chr12:47974254 [GRCh38]
Chr12:48368037 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2725G>A (p.Gly909Ser) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV003444081] Chr12:47979519 [GRCh38]
Chr12:48373302 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.309+1G>A single nucleotide variant COL2A1-related disorder [RCV004528020] Chr12:47998414 [GRCh38]
Chr12:48392197 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1987G>A (p.Gly663Arg) single nucleotide variant COL2A1-related disorder [RCV004528656] Chr12:47983691 [GRCh38]
Chr12:48377474 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3437G>C (p.Gly1146Ala) single nucleotide variant Type II Collagenopathies [RCV003405202] Chr12:47976566 [GRCh38]
Chr12:48370349 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1240G>A (p.Gly414Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV003444052] Chr12:47987295 [GRCh38]
Chr12:48381078 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1051G>C (p.Gly351Arg) single nucleotide variant Spondyloepimetaphyseal dysplasia, Strudwick type [RCV003444053] Chr12:47989778 [GRCh38]
Chr12:48383561 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1365+19C>A single nucleotide variant not specified [RCV003388409] Chr12:47987059 [GRCh38]
Chr12:48380842 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn) single nucleotide variant COL2A1-related disorder [RCV004529841]|not provided [RCV003699084] Chr12:47974824 [GRCh38]
Chr12:48368607 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3536G>A (p.Gly1179Glu) single nucleotide variant COL2A1-related disorder [RCV004529313] Chr12:47976024 [GRCh38]
Chr12:48369807 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1358G>T (p.Gly453Val) single nucleotide variant COL2A1-related disorder [RCV004527895] Chr12:47987085 [GRCh38]
Chr12:48380868 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.930dup (p.Ser311fs) duplication not provided [RCV003696330] Chr12:47993496..47993497 [GRCh38]
Chr12:48387279..48387280 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.970-14G>A single nucleotide variant not provided [RCV003694365] Chr12:47992945 [GRCh38]
Chr12:48386728 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3215C>A (p.Pro1072His) single nucleotide variant not provided [RCV003576869] Chr12:47977378 [GRCh38]
Chr12:48371161 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.686AACCTGGTG[3] (p.Gly234_Val235insGluProGly) microsatellite not provided [RCV003696353] Chr12:47995714..47995715 [GRCh38]
Chr12:48389497..48389498 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1739C>A (p.Ala580Asp) single nucleotide variant not provided [RCV003579394] Chr12:47985089 [GRCh38]
Chr12:48378872 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.857T>C (p.Val286Ala) single nucleotide variant not provided [RCV003579501] Chr12:47994007 [GRCh38]
Chr12:48387790 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.903G>C (p.Glu301Asp) single nucleotide variant not provided [RCV003577211] Chr12:47993830 [GRCh38]
Chr12:48387613 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3327+1G>A single nucleotide variant not provided [RCV003695800] Chr12:47977101 [GRCh38]
Chr12:48370884 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2301+2dup duplication not provided [RCV003578416] Chr12:47982499..47982500 [GRCh38]
Chr12:48376282..48376283 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.460_461del (p.Glu154fs) microsatellite not provided [RCV003696370] Chr12:47997676..47997677 [GRCh38]
Chr12:48391459..48391460 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2095-14T>C single nucleotide variant not provided [RCV003691339] Chr12:47982960 [GRCh38]
Chr12:48376743 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.894del (p.Lys299fs) deletion not provided [RCV003695873] Chr12:47993839 [GRCh38]
Chr12:48387622 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.91G>A (p.Ala31Thr) single nucleotide variant not provided [RCV003544976] Chr12:48000120 [GRCh38]
Chr12:48393903 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2301+1G>T single nucleotide variant not provided [RCV003576534] Chr12:47982501 [GRCh38]
Chr12:48376284 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2385C>T (p.Gly795=) single nucleotide variant not provided [RCV003575862] Chr12:47981800 [GRCh38]
Chr12:48375583 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3925G>C (p.Asp1309His) single nucleotide variant not provided [RCV003690198] Chr12:47974824 [GRCh38]
Chr12:48368607 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4317_4317+3dup duplication not provided [RCV003545129] Chr12:47974085..47974086 [GRCh38]
Chr12:48367868..48367869 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1996-3T>C single nucleotide variant COL2A1-related disorder [RCV004539059]|not provided [RCV003713857] Chr12:47983441 [GRCh38]
Chr12:48377224 [GRCh37]
Chr12:12q13.11		 likely benign|uncertain significance
NM_001844.5(COL2A1):c.2791G>C (p.Ala931Pro) single nucleotide variant not provided [RCV003693996] Chr12:47978701 [GRCh38]
Chr12:48372484 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3489+6T>C single nucleotide variant not provided [RCV003696553] Chr12:47976508 [GRCh38]
Chr12:48370291 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2416G>T (p.Val806Phe) single nucleotide variant not provided [RCV003849204] Chr12:47981390 [GRCh38]
Chr12:48375173 [GRCh37]
Chr12:12q13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001844.5(COL2A1):c.1188T>A (p.Gly396=) single nucleotide variant not provided [RCV003696593] Chr12:47987644 [GRCh38]
Chr12:48381427 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1323C>A (p.Gly441=) single nucleotide variant not provided [RCV003692850] Chr12:47987120 [GRCh38]
Chr12:48380903 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3111+16C>T single nucleotide variant not provided [RCV003714132] Chr12:47977994 [GRCh38]
Chr12:48371777 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1189del (p.Thr397fs) deletion not provided [RCV003544147] Chr12:47987643 [GRCh38]
Chr12:48381426 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.204C>G (p.Ile68Met) single nucleotide variant not provided [RCV003574259] Chr12:48000007 [GRCh38]
Chr12:48393790 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2089C>T (p.Pro697Ser) single nucleotide variant not provided [RCV003716636] Chr12:47983098 [GRCh38]
Chr12:48376881 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3327+7A>G single nucleotide variant not provided [RCV003577626] Chr12:47977095 [GRCh38]
Chr12:48370878 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1068_1068+2dup duplication not provided [RCV003690634] Chr12:47989758..47989759 [GRCh38]
Chr12:48383541..48383542 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1419+11G>T single nucleotide variant not provided [RCV003576421] Chr12:47986824 [GRCh38]
Chr12:48380607 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3541C>T (p.Pro1181Ser) single nucleotide variant not provided [RCV003576422] Chr12:47976019 [GRCh38]
Chr12:48369802 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4443dup (p.Gly1482fs) duplication not provided [RCV003544219] Chr12:47973427..47973428 [GRCh38]
Chr12:48367210..48367211 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3826C>G (p.Arg1276Gly) single nucleotide variant not provided [RCV003660578] Chr12:47975377 [GRCh38]
Chr12:48369160 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.689C>G (p.Pro230Arg) single nucleotide variant not provided [RCV003688261] Chr12:47995729 [GRCh38]
Chr12:48389512 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3701A>G (p.Asp1234Gly) single nucleotide variant not provided [RCV003544917] Chr12:47975502 [GRCh38]
Chr12:48369285 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4175_4176dup (p.Cys1393fs) duplication not provided [RCV003547684] Chr12:47974229..47974230 [GRCh38]
Chr12:48368012..48368013 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.429+1G>C single nucleotide variant not provided [RCV003690131] Chr12:47997870 [GRCh38]
Chr12:48391653 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1327C>T (p.Gln443Ter) single nucleotide variant not provided [RCV003691906] Chr12:47987116 [GRCh38]
Chr12:48380899 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.610-6A>T single nucleotide variant not provided [RCV003828800] Chr12:47995925 [GRCh38]
Chr12:48389708 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4073A>T (p.His1358Leu) single nucleotide variant not provided [RCV003693287] Chr12:47974676 [GRCh38]
Chr12:48368459 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2755C>T (p.Pro919Ser) single nucleotide variant not provided [RCV003828339] Chr12:47978737 [GRCh38]
Chr12:48372520 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1366-4C>T single nucleotide variant not provided [RCV003545132] Chr12:47986892 [GRCh38]
Chr12:48380675 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4099G>T (p.Ala1367Ser) single nucleotide variant not provided [RCV003688436] Chr12:47974307 [GRCh38]
Chr12:48368090 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3696C>T (p.Gly1232=) single nucleotide variant not provided [RCV003879789] Chr12:47975507 [GRCh38]
Chr12:48369290 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.376G>A (p.Gly126Arg) single nucleotide variant not provided [RCV003694799] Chr12:47997924 [GRCh38]
Chr12:48391707 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.15G>A (p.Gly5=) single nucleotide variant not provided [RCV003661405] Chr12:48004307 [GRCh38]
Chr12:48398090 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.343A>G (p.Ile115Val) single nucleotide variant not provided [RCV003546369] Chr12:47998064 [GRCh38]
Chr12:48391847 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2301+13G>T single nucleotide variant not provided [RCV003662225] Chr12:47982489 [GRCh38]
Chr12:48376272 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2701G>A (p.Ala901Thr) single nucleotide variant not provided [RCV003714749] Chr12:47979543 [GRCh38]
Chr12:48373326 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2049+1G>T single nucleotide variant not provided [RCV003572633] Chr12:47983384 [GRCh38]
Chr12:48377167 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.711T>C (p.Gly237=) single nucleotide variant not provided [RCV003827795] Chr12:47995306 [GRCh38]
Chr12:48389089 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3721del (p.Ala1241fs) deletion not provided [RCV003578093] Chr12:47975482 [GRCh38]
Chr12:48369265 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4245C>T (p.Gly1415=) single nucleotide variant not provided [RCV003662384] Chr12:47974161 [GRCh38]
Chr12:48367944 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1267-19C>G single nucleotide variant not provided [RCV003578500] Chr12:47987195 [GRCh38]
Chr12:48380978 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1979G>T (p.Gly660Val) single nucleotide variant not provided [RCV003688689] Chr12:47983699 [GRCh38]
Chr12:48377482 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.375+2T>A single nucleotide variant not provided [RCV003661526] Chr12:47998030 [GRCh38]
Chr12:48391813 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.651T>C (p.Ala217=) single nucleotide variant not provided [RCV003544405] Chr12:47995878 [GRCh38]
Chr12:48389661 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1419+18A>T single nucleotide variant not provided [RCV003694782] Chr12:47986817 [GRCh38]
Chr12:48380600 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1321G>A (p.Gly441Ser) single nucleotide variant not provided [RCV003693920] Chr12:47987122 [GRCh38]
Chr12:48380905 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3901G>C (p.Asp1301His) single nucleotide variant not provided [RCV003716140] Chr12:47974848 [GRCh38]
Chr12:48368631 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.343-6T>G single nucleotide variant not provided [RCV003687318] Chr12:47998070 [GRCh38]
Chr12:48391853 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.827del (p.Gly276fs) deletion not provided [RCV003691382] Chr12:47994037 [GRCh38]
Chr12:48387820 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3515_3516del (p.Ser1172fs) microsatellite not provided [RCV003576397] Chr12:47976044..47976045 [GRCh38]
Chr12:48369827..48369828 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.451A>T (p.Arg151Ter) single nucleotide variant not provided [RCV003691568] Chr12:47997686 [GRCh38]
Chr12:48391469 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.262A>T (p.Ile88Phe) single nucleotide variant not provided [RCV003546300] Chr12:47999949 [GRCh38]
Chr12:48393732 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.1673del (p.Gly558fs) deletion not provided [RCV003546302] Chr12:47985735 [GRCh38]
Chr12:48379518 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4127_4128dup (p.Phe1377fs) duplication not provided [RCV003690241] Chr12:47974277..47974278 [GRCh38]
Chr12:48368060..48368061 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2428G>A (p.Gly810Ser) single nucleotide variant not provided [RCV003577677] Chr12:47981378 [GRCh38]
Chr12:48375161 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.611G>A (p.Gly204Asp) single nucleotide variant not provided [RCV003572016] Chr12:47995918 [GRCh38]
Chr12:48389701 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.293-6T>G single nucleotide variant not provided [RCV003547209] Chr12:47998437 [GRCh38]
Chr12:48392220 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.532-19T>C single nucleotide variant not provided [RCV003695029] Chr12:47996644 [GRCh38]
Chr12:48390427 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.814C>T (p.Gln272Ter) single nucleotide variant not provided [RCV003691887] Chr12:47994426 [GRCh38]
Chr12:48388209 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1069-10C>T single nucleotide variant not provided [RCV003687575] Chr12:47989291 [GRCh38]
Chr12:48383074 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1074T>C (p.Pro358=) single nucleotide variant not provided [RCV003715901] Chr12:47989276 [GRCh38]
Chr12:48383059 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2302-6C>T single nucleotide variant not provided [RCV003690294] Chr12:47982166 [GRCh38]
Chr12:48375949 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2714_2715dup (p.Gly906fs) duplication not provided [RCV003578420] Chr12:47979528..47979529 [GRCh38]
Chr12:48373311..48373312 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1932del (p.Gly645fs) deletion not provided [RCV003576533] Chr12:47984096 [GRCh38]
Chr12:48377879 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1528-6C>T single nucleotide variant not provided [RCV003577450] Chr12:47985971 [GRCh38]
Chr12:48379754 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1376G>C (p.Gly459Ala) single nucleotide variant not provided [RCV003578125] Chr12:47986878 [GRCh38]
Chr12:48380661 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2578dup (p.Ala860fs) duplication not provided [RCV003545808] Chr12:47980600..47980601 [GRCh38]
Chr12:48374383..48374384 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4231_4240del (p.Leu1411fs) deletion not provided [RCV003575409] Chr12:47974166..47974175 [GRCh38]
Chr12:48367949..48367958 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.133G>T (p.Asp45Tyr) single nucleotide variant not provided [RCV003879830] Chr12:48000078 [GRCh38]
Chr12:48393861 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003+18C>T single nucleotide variant not provided [RCV003712987] Chr12:47978273 [GRCh38]
Chr12:48372056 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4370C>G (p.Thr1457Ser) single nucleotide variant not provided [RCV003547754] Chr12:47973501 [GRCh38]
Chr12:48367284 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2429G>C (p.Gly810Ala) single nucleotide variant not provided [RCV003690966] Chr12:47981377 [GRCh38]
Chr12:48375160 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1045C>G (p.Gln349Glu) single nucleotide variant not provided [RCV003687172] Chr12:47989784 [GRCh38]
Chr12:48383567 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3489+3_3489+6del deletion not provided [RCV003544408] Chr12:47976508..47976511 [GRCh38]
Chr12:48370291..48370294 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3968dup (p.Cys1323fs) duplication not provided [RCV003688437] Chr12:47974780..47974781 [GRCh38]
Chr12:48368563..48368564 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1489_1492del (p.Pro497fs) deletion not provided [RCV003547373] Chr12:47986371..47986374 [GRCh38]
Chr12:48380154..48380157 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1869del (p.Gly624fs) deletion not provided [RCV003572727] Chr12:47984564 [GRCh38]
Chr12:48378347 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2998C>A (p.Pro1000Thr) single nucleotide variant not provided [RCV003687205] Chr12:47978296 [GRCh38]
Chr12:48372079 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3903C>T (p.Asp1301=) single nucleotide variant not provided [RCV003879211] Chr12:47974846 [GRCh38]
Chr12:48368629 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1069-4C>T single nucleotide variant not provided [RCV003544696] Chr12:47989285 [GRCh38]
Chr12:48383068 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2094+5G>A single nucleotide variant not provided [RCV003715991] Chr12:47983088 [GRCh38]
Chr12:48376871 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.679C>G (p.Pro227Ala) single nucleotide variant not provided [RCV003713764] Chr12:47995739 [GRCh38]
Chr12:48389522 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1267-14_1267-12del microsatellite not provided [RCV003715128] Chr12:47987188..47987190 [GRCh38]
Chr12:48380971..48380973 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3077G>A (p.Gly1026Asp) single nucleotide variant Achondrogenesis type II [RCV003485995] Chr12:47978044 [GRCh38]
Chr12:48371827 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3328-8G>T single nucleotide variant not provided [RCV003881183] Chr12:47976927 [GRCh38]
Chr12:48370710 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3436-11C>T single nucleotide variant not provided [RCV003826786] Chr12:47976578 [GRCh38]
Chr12:48370361 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1266+1G>T single nucleotide variant Kniest dysplasia [RCV003485994] Chr12:47987268 [GRCh38]
Chr12:48381051 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3704C>T (p.Pro1235Leu) single nucleotide variant not provided [RCV003545153] Chr12:47975499 [GRCh38]
Chr12:48369282 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1181A>T (p.Glu394Val) single nucleotide variant not provided [RCV003576202] Chr12:47987651 [GRCh38]
Chr12:48381434 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.493G>C (p.Gly165Arg) single nucleotide variant not provided [RCV003715569] Chr12:47997644 [GRCh38]
Chr12:48391427 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2302-20C>G single nucleotide variant not provided [RCV003544061] Chr12:47982180 [GRCh38]
Chr12:48375963 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2644G>C (p.Gly882Arg) single nucleotide variant not provided [RCV003714330] Chr12:47980044 [GRCh38]
Chr12:48373827 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3028C>A (p.Pro1010Thr) single nucleotide variant not provided [RCV003881973] Chr12:47978093 [GRCh38]
Chr12:48371876 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2222G>A (p.Gly741Glu) single nucleotide variant not provided [RCV003686475] Chr12:47982581 [GRCh38]
Chr12:48376364 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2687C>T (p.Thr896Ile) single nucleotide variant not provided [RCV003715654] Chr12:47979557 [GRCh38]
Chr12:48373340 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2355+16C>A single nucleotide variant not provided [RCV003689611] Chr12:47982091 [GRCh38]
Chr12:48375874 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2625+18C>T single nucleotide variant not provided [RCV003575285] Chr12:47980536 [GRCh38]
Chr12:48374319 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.7C>A (p.Arg3Ser) single nucleotide variant not provided [RCV003665208] Chr12:48004315 [GRCh38]
Chr12:48398098 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4127C>A (p.Thr1376Asn) single nucleotide variant not provided [RCV003832696] Chr12:47974279 [GRCh38]
Chr12:48368062 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1053C>G (p.Gly351=) single nucleotide variant not provided [RCV003698629] Chr12:47989776 [GRCh38]
Chr12:48383559 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2777A>T (p.Asp926Val) single nucleotide variant not provided [RCV003716883] Chr12:47978715 [GRCh38]
Chr12:48372498 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1023+7A>C single nucleotide variant not provided [RCV003699956] Chr12:47992871 [GRCh38]
Chr12:48386654 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1888-11C>T single nucleotide variant not provided [RCV003849570] Chr12:47984151 [GRCh38]
Chr12:48377934 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2676C>A (p.Pro892=) single nucleotide variant not provided [RCV003548253] Chr12:47980012 [GRCh38]
Chr12:48373795 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2568G>A (p.Gln856=) single nucleotide variant not provided [RCV003835122] Chr12:47980611 [GRCh38]
Chr12:48374394 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.613C>T (p.Pro205Ser) single nucleotide variant not provided [RCV003580840] Chr12:47995916 [GRCh38]
Chr12:48389699 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.498T>A (p.Pro166=) single nucleotide variant not provided [RCV003549270] Chr12:47997639 [GRCh38]
Chr12:48391422 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3464G>T (p.Gly1155Val) single nucleotide variant not provided [RCV003557714] Chr12:47976539 [GRCh38]
Chr12:48370322 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.762+5G>A single nucleotide variant not provided [RCV003557720] Chr12:47995250 [GRCh38]
Chr12:48389033 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3042A>T (p.Gly1014=) single nucleotide variant not provided [RCV003580962] Chr12:47978079 [GRCh38]
Chr12:48371862 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3399T>C (p.Arg1133=) single nucleotide variant not provided [RCV003699313] Chr12:47976848 [GRCh38]
Chr12:48370631 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1888-2A>G single nucleotide variant not provided [RCV003557718] Chr12:47984142 [GRCh38]
Chr12:48377925 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.899G>A (p.Gly300Glu) single nucleotide variant not provided [RCV003580137] Chr12:47993834 [GRCh38]
Chr12:48387617 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2199A>T (p.Ala733=) single nucleotide variant not provided [RCV003549648] Chr12:47982604 [GRCh38]
Chr12:48376387 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.686AACCTGGTG[1] (p.229EPG[1]) microsatellite not provided [RCV003698456] Chr12:47995715..47995723 [GRCh38]
Chr12:48389498..48389506 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4074+16C>G single nucleotide variant not provided [RCV003850067] Chr12:47974659 [GRCh38]
Chr12:48368442 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.376-13T>C single nucleotide variant not provided [RCV003697545] Chr12:47997937 [GRCh38]
Chr12:48391720 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003+7G>T single nucleotide variant COL2A1-related disorder [RCV004539049]|not provided [RCV003666269] Chr12:47978284 [GRCh38]
Chr12:48372067 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1833+18C>T single nucleotide variant not provided [RCV003580359] Chr12:47984977 [GRCh38]
Chr12:48378760 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4462T>A (p.Ter1488Lys) single nucleotide variant not provided [RCV003549797] Chr12:47973409 [GRCh38]
Chr12:48367192 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4075-18C>G single nucleotide variant not provided [RCV003697618] Chr12:47974349 [GRCh38]
Chr12:48368132 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.430-10T>C single nucleotide variant not provided [RCV003673629] Chr12:47997717 [GRCh38]
Chr12:48391500 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2053G>A (p.Val685Ile) single nucleotide variant not provided [RCV003697782] Chr12:47983134 [GRCh38]
Chr12:48376917 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1732T>G (p.Ser578Ala) single nucleotide variant not provided [RCV003669697] Chr12:47985536 [GRCh38]
Chr12:48379319 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2095-19C>T single nucleotide variant not provided [RCV003723274] Chr12:47982965 [GRCh38]
Chr12:48376748 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2733+7del deletion not provided [RCV003669690] Chr12:47979504 [GRCh38]
Chr12:48373287 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2164C>T (p.Pro722Ser) single nucleotide variant not provided [RCV003856041] Chr12:47982877 [GRCh38]
Chr12:48376660 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1182_1189dup (p.Thr397fs) duplication not provided [RCV003723500] Chr12:47987642..47987643 [GRCh38]
Chr12:48381425..48381426 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.86-8T>A single nucleotide variant COL2A1-related disorder [RCV004540730]|not provided [RCV003672378] Chr12:48000133 [GRCh38]
Chr12:48393916 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1419+20C>T single nucleotide variant not provided [RCV003833071] Chr12:47986815 [GRCh38]
Chr12:48380598 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.429+8A>C single nucleotide variant not provided [RCV003834087] Chr12:47997863 [GRCh38]
Chr12:48391646 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2094+15G>A single nucleotide variant not provided [RCV003671306] Chr12:47983078 [GRCh38]
Chr12:48376861 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.924+2T>A single nucleotide variant Stickler syndrome type 1 [RCV003994740] Chr12:47993807 [GRCh38]
Chr12:48387590 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1428T>C (p.Ala476=) single nucleotide variant not provided [RCV003850055] Chr12:47986435 [GRCh38]
Chr12:48380218 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3936G>A (p.Lys1312=) single nucleotide variant not provided [RCV003664143] Chr12:47974813 [GRCh38]
Chr12:48368596 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1826G>C (p.Gly609Ala) single nucleotide variant not provided [RCV003667510] Chr12:47985002 [GRCh38]
Chr12:48378785 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2562C>A (p.Ala854=) single nucleotide variant not provided [RCV003697073] Chr12:47980617 [GRCh38]
Chr12:48374400 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2920C>T (p.Gln974Ter) single nucleotide variant not provided [RCV003855111] Chr12:47978374 [GRCh38]
Chr12:48372157 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4146C>T (p.Ser1382=) single nucleotide variant not provided [RCV003673420] Chr12:47974260 [GRCh38]
Chr12:48368043 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1879G>A (p.Gly627Ser) single nucleotide variant not provided [RCV003561582] Chr12:47984554 [GRCh38]
Chr12:48378337 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2152C>T (p.Pro718Ser) single nucleotide variant not provided [RCV003561615] Chr12:47982889 [GRCh38]
Chr12:48376672 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3841C>T (p.Arg1281Cys) single nucleotide variant not provided [RCV003664204] Chr12:47975362 [GRCh38]
Chr12:48369145 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1647C>A (p.Gly549=) single nucleotide variant not provided [RCV003702032] Chr12:47985761 [GRCh38]
Chr12:48379544 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2464-18T>C single nucleotide variant not provided [RCV003700735] Chr12:47980986 [GRCh38]
Chr12:48374769 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1520G>C (p.Gly507Ala) single nucleotide variant not provided [RCV003549266] Chr12:47986343 [GRCh38]
Chr12:48380126 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.930G>C (p.Glu310Asp) single nucleotide variant not provided [RCV003671481] Chr12:47993497 [GRCh38]
Chr12:48387280 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3965C>A (p.Thr1322Asn) single nucleotide variant not provided [RCV003557712] Chr12:47974784 [GRCh38]
Chr12:48368567 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.156_166del (p.Arg53fs) deletion not provided [RCV003701747] Chr12:48000045..48000055 [GRCh38]
Chr12:48393828..48393838 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2302-7C>T single nucleotide variant not provided [RCV003836889] Chr12:47982167 [GRCh38]
Chr12:48375950 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3887-17G>C single nucleotide variant not provided [RCV003673357] Chr12:47974879 [GRCh38]
Chr12:48368662 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.970-1G>A single nucleotide variant not provided [RCV003561806] Chr12:47992932 [GRCh38]
Chr12:48386715 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4074+15G>A single nucleotide variant not provided [RCV003663856] Chr12:47974660 [GRCh38]
Chr12:48368443 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2094+11T>C single nucleotide variant not provided [RCV003815071] Chr12:47983082 [GRCh38]
Chr12:48376865 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1436A>C (p.Gln479Pro) single nucleotide variant not provided [RCV003667672] Chr12:47986427 [GRCh38]
Chr12:48380210 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2094+3G>T single nucleotide variant not provided [RCV003698358] Chr12:47983090 [GRCh38]
Chr12:48376873 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1364C>G (p.Thr455Arg) single nucleotide variant not provided [RCV003666810] Chr12:47987079 [GRCh38]
Chr12:48380862 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2197G>A (p.Ala733Thr) single nucleotide variant not provided [RCV003701270] Chr12:47982606 [GRCh38]
Chr12:48376389 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3886+18G>A single nucleotide variant not provided [RCV003702754] Chr12:47975299 [GRCh38]
Chr12:48369082 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2872G>T (p.Glu958Ter) single nucleotide variant not provided [RCV003559624] Chr12:47978620 [GRCh38]
Chr12:48372403 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3085G>T (p.Gly1029Cys) single nucleotide variant not provided [RCV003701943] Chr12:47978036 [GRCh38]
Chr12:48371819 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2095-15G>T single nucleotide variant not provided [RCV003673717] Chr12:47982961 [GRCh38]
Chr12:48376744 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1566T>C (p.Gly522=) single nucleotide variant not provided [RCV003723760] Chr12:47985927 [GRCh38]
Chr12:48379710 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.872G>T (p.Gly291Val) single nucleotide variant not provided [RCV003557943] Chr12:47993861 [GRCh38]
Chr12:48387644 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3927C>G (p.Asp1309Glu) single nucleotide variant not provided [RCV003558024] Chr12:47974822 [GRCh38]
Chr12:48368605 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.506CCCCTGGTC[3] (p.Gly174_Leu175insProProGly) microsatellite not provided [RCV003668513] Chr12:47997613..47997614 [GRCh38]
Chr12:48391396..48391397 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.234T>A (p.Pro78=) single nucleotide variant not provided [RCV003723373] Chr12:47999977 [GRCh38]
Chr12:48393760 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.339_340delinsTT (p.Lys113_Asp114delinsAsnTyr) indel not provided [RCV003700265] Chr12:47998171..47998172 [GRCh38]
Chr12:48391954..48391955 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3978C>T (p.Pro1326=) single nucleotide variant not provided [RCV003851262] Chr12:47974771 [GRCh38]
Chr12:48368554 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4459T>A (p.Leu1487Met) single nucleotide variant not provided [RCV003671065] Chr12:47973412 [GRCh38]
Chr12:48367195 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3341C>T (p.Pro1114Leu) single nucleotide variant not provided [RCV003702357] Chr12:47976906 [GRCh38]
Chr12:48370689 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2235T>G (p.Pro745=) single nucleotide variant not provided [RCV003701488] Chr12:47982568 [GRCh38]
Chr12:48376351 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1662T>C (p.Pro554=) single nucleotide variant not provided [RCV003672771] Chr12:47985746 [GRCh38]
Chr12:48379529 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1887+9C>T single nucleotide variant not provided [RCV003668217] Chr12:47984537 [GRCh38]
Chr12:48378320 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.375+4AG[2] microsatellite not provided [RCV003667955] Chr12:47998023..47998024 [GRCh38]
Chr12:48391806..48391807 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1420-5C>T single nucleotide variant not provided [RCV003671175] Chr12:47986448 [GRCh38]
Chr12:48380231 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1751A>G (p.Asp584Gly) single nucleotide variant not provided [RCV003701632] Chr12:47985077 [GRCh38]
Chr12:48378860 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.342+2_342+7del deletion not provided [RCV003700264] Chr12:47998162..47998167 [GRCh38]
Chr12:48391945..48391950 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2625+1G>C single nucleotide variant not provided [RCV003716864] Chr12:47980553 [GRCh38]
Chr12:48374336 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2707G>A (p.Gly903Ser) single nucleotide variant not provided [RCV003557717] Chr12:47979537 [GRCh38]
Chr12:48373320 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.469A>G (p.Thr157Ala) single nucleotide variant not provided [RCV003671397] Chr12:47997668 [GRCh38]
Chr12:48391451 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2095-1G>A single nucleotide variant not provided [RCV003740521] Chr12:47982947 [GRCh38]
Chr12:48376730 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.3264_3265del (p.Gly1089fs) microsatellite COL2A1-related disorder [RCV004536871]|not provided [RCV003557715] Chr12:47977328..47977329 [GRCh38]
Chr12:48371111..48371112 [GRCh37]
Chr12:12q13.11		 pathogenic|likely pathogenic
NM_001844.5(COL2A1):c.85+14C>G single nucleotide variant not provided [RCV003838689] Chr12:48004223 [GRCh38]
Chr12:48398006 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3003G>A (p.Ser1001=) single nucleotide variant not provided [RCV003668873] Chr12:47978291 [GRCh38]
Chr12:48372074 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2858C>T (p.Pro953Leu) single nucleotide variant not provided [RCV003560698] Chr12:47978634 [GRCh38]
Chr12:48372417 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1366-18C>T single nucleotide variant not provided [RCV003669041] Chr12:47986906 [GRCh38]
Chr12:48380689 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3165+13T>A single nucleotide variant not provided [RCV003833618] Chr12:47977587 [GRCh38]
Chr12:48371370 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.868A>G (p.Arg290Gly) single nucleotide variant not provided [RCV003704540] Chr12:47993996 [GRCh38]
Chr12:48387779 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1283C>T (p.Ala428Val) single nucleotide variant not provided [RCV003566609] Chr12:47987160 [GRCh38]
Chr12:48380943 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3133C>A (p.Pro1045Thr) single nucleotide variant not provided [RCV003552069] Chr12:47977632 [GRCh38]
Chr12:48371415 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.763-7C>T single nucleotide variant not provided [RCV003680935] Chr12:47994484 [GRCh38]
Chr12:48388267 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3661_3665dup (p.Phe1223fs) duplication not provided [RCV003550312] Chr12:47975537..47975538 [GRCh38]
Chr12:48369320..48369321 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.343-11C>G single nucleotide variant not provided [RCV003709146] Chr12:47998075 [GRCh38]
Chr12:48391858 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2518-3T>G single nucleotide variant not provided [RCV003683170] Chr12:47980664 [GRCh38]
Chr12:48374447 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1123-2A>G single nucleotide variant not provided [RCV003842955] Chr12:47987711 [GRCh38]
Chr12:48381494 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.871-6C>G single nucleotide variant not provided [RCV003820541] Chr12:47993868 [GRCh38]
Chr12:48387651 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2772A>G (p.Gly924=) single nucleotide variant not provided [RCV003822098] Chr12:47978720 [GRCh38]
Chr12:48372503 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3009G>A (p.Glu1003=) single nucleotide variant not provided [RCV003710373] Chr12:47978112 [GRCh38]
Chr12:48371895 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2464-1G>T single nucleotide variant not provided [RCV003568857] Chr12:47980969 [GRCh38]
Chr12:48374752 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4386C>G (p.Ile1462Met) single nucleotide variant not provided [RCV003861747] Chr12:47973485 [GRCh38]
Chr12:48367268 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1336A>T (p.Thr446Ser) single nucleotide variant not provided [RCV003563312] Chr12:47987107 [GRCh38]
Chr12:48380890 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4315A>G (p.Thr1439Ala) single nucleotide variant not provided [RCV003845896] Chr12:47974091 [GRCh38]
Chr12:48367874 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4092C>T (p.Asp1364=) single nucleotide variant not provided [RCV003819720] Chr12:47974314 [GRCh38]
Chr12:48368097 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.430-11T>C single nucleotide variant not provided [RCV003823080] Chr12:47997718 [GRCh38]
Chr12:48391501 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2944A>G (p.Ile982Val) single nucleotide variant not provided [RCV003681178] Chr12:47978350 [GRCh38]
Chr12:48372133 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1102C>A (p.Pro368Thr) single nucleotide variant not provided [RCV003681189] Chr12:47989248 [GRCh38]
Chr12:48383031 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.230G>A (p.Ser77Asn) single nucleotide variant not provided [RCV003710417] Chr12:47999981 [GRCh38]
Chr12:48393764 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1582-14G>A single nucleotide variant not provided [RCV003861532] Chr12:47985840 [GRCh38]
Chr12:48379623 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4396_4397delinsTT (p.Ala1466Leu) indel not provided [RCV003564726] Chr12:47973474..47973475 [GRCh38]
Chr12:48367257..48367258 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1135C>T (p.Pro379Ser) single nucleotide variant not provided [RCV003844881] Chr12:47987697 [GRCh38]
Chr12:48381480 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2734-5_2734-3del deletion not provided [RCV003710551] Chr12:47978761..47978763 [GRCh38]
Chr12:48372544..48372546 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.997G>A (p.Gly333Arg) single nucleotide variant not provided [RCV003555415] Chr12:47992904 [GRCh38]
Chr12:48386687 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1680+10A>G single nucleotide variant not provided [RCV003842220] Chr12:47985718 [GRCh38]
Chr12:48379501 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.178G>A (p.Gly60Arg) single nucleotide variant not provided [RCV003551021] Chr12:48000033 [GRCh38]
Chr12:48393816 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2672G>C (p.Gly891Ala) single nucleotide variant not provided [RCV003705083] Chr12:47980016 [GRCh38]
Chr12:48373799 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4124T>C (p.Met1375Thr) single nucleotide variant not provided [RCV003861271] Chr12:47974282 [GRCh38]
Chr12:48368065 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.612C>T (p.Gly204=) single nucleotide variant not provided [RCV003707913] Chr12:47995917 [GRCh38]
Chr12:48389700 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.824G>A (p.Arg275His) single nucleotide variant not provided [RCV003846841] Chr12:47994040 [GRCh38]
Chr12:48387823 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2160C>T (p.Gly720=) single nucleotide variant not provided [RCV003679787] Chr12:47982881 [GRCh38]
Chr12:48376664 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.292+11A>G single nucleotide variant not provided [RCV003542806] Chr12:47999908 [GRCh38]
Chr12:48393691 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.343-1G>A single nucleotide variant not provided [RCV003541866] Chr12:47998065 [GRCh38]
Chr12:48391848 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3082A>T (p.Thr1028Ser) single nucleotide variant not provided [RCV003541871] Chr12:47978039 [GRCh38]
Chr12:48371822 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4319_4322dup (p.His1441fs) duplication not provided [RCV003711547] Chr12:47973548..47973549 [GRCh38]
Chr12:48367331..48367332 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2896-19C>T single nucleotide variant not provided [RCV003853977] Chr12:47978417 [GRCh38]
Chr12:48372200 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.967A>G (p.Met323Val) single nucleotide variant not provided [RCV003727594] Chr12:47993460 [GRCh38]
Chr12:48387243 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1419+11G>C single nucleotide variant not provided [RCV003564228] Chr12:47986824 [GRCh38]
Chr12:48380607 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1123-20T>C single nucleotide variant not provided [RCV003819823] Chr12:47987729 [GRCh38]
Chr12:48381512 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2194-6C>T single nucleotide variant not provided [RCV003843704] Chr12:47982615 [GRCh38]
Chr12:48376398 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.209A>G (p.Glu70Gly) single nucleotide variant not provided [RCV003706747] Chr12:48000002 [GRCh38]
Chr12:48393785 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3490-19C>G single nucleotide variant not provided [RCV003857709] Chr12:47976089 [GRCh38]
Chr12:48369872 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.606A>G (p.Pro202=) single nucleotide variant not provided [RCV003822204] Chr12:47996551 [GRCh38]
Chr12:48390334 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2361G>A (p.Leu787=) single nucleotide variant not provided [RCV003865542] Chr12:47981824 [GRCh38]
Chr12:48375607 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2301+17C>T single nucleotide variant not provided [RCV003556613] Chr12:47982485 [GRCh38]
Chr12:48376268 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+20A>G single nucleotide variant not provided [RCV003674675] Chr12:47997586 [GRCh38]
Chr12:48391369 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3004-3C>T single nucleotide variant not provided [RCV003706216] Chr12:47978120 [GRCh38]
Chr12:48371903 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1424del (p.Pro475fs) deletion not provided [RCV003677705] Chr12:47986439 [GRCh38]
Chr12:48380222 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.162C>A (p.Ile54=) single nucleotide variant not provided [RCV003680707] Chr12:48000049 [GRCh38]
Chr12:48393832 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.85+17_85+18delinsTG indel not provided [RCV003863480] Chr12:48004219..48004220 [GRCh38]
Chr12:48398002..48398003 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1643del (p.Pro548fs) deletion not provided [RCV003568325] Chr12:47985765 [GRCh38]
Chr12:48379548 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3328-17G>A single nucleotide variant not provided [RCV003677118] Chr12:47976936 [GRCh38]
Chr12:48370719 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1053C>A (p.Gly351=) single nucleotide variant not provided [RCV003705598] Chr12:47989776 [GRCh38]
Chr12:48383559 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2759C>A (p.Pro920His) single nucleotide variant not provided [RCV003567295] Chr12:47978733 [GRCh38]
Chr12:48372516 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4320A>T (p.Lys1440Asn) single nucleotide variant not provided [RCV003734313] Chr12:47973551 [GRCh38]
Chr12:48367334 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2103_2108dup (p.Gly702_Phe703insLeuGly) duplication not provided [RCV003553856] Chr12:47982932..47982933 [GRCh38]
Chr12:48376715..48376716 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4380C>G (p.Leu1460=) single nucleotide variant not provided [RCV003863699] Chr12:47973491 [GRCh38]
Chr12:48367274 [GRCh37]
Chr12:12q13.11		 benign
NM_001844.5(COL2A1):c.2049+4_2049+9del deletion not provided [RCV003680861] Chr12:47983376..47983381 [GRCh38]
Chr12:48377159..48377164 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2463+13C>A single nucleotide variant not provided [RCV003711918] Chr12:47981330 [GRCh38]
Chr12:48375113 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.250G>A (p.Glu84Lys) single nucleotide variant not provided [RCV003542555] Chr12:47999961 [GRCh38]
Chr12:48393744 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.518dup (p.Gly174fs) duplication not provided [RCV003706133] Chr12:47997618..47997619 [GRCh38]
Chr12:48391401..48391402 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2355+16C>T single nucleotide variant not provided [RCV003843085] Chr12:47982091 [GRCh38]
Chr12:48375874 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1932T>G (p.Pro644=) single nucleotide variant not provided [RCV003682192] Chr12:47984096 [GRCh38]
Chr12:48377879 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1926A>C (p.Gly642=) single nucleotide variant not provided [RCV003682193] Chr12:47984102 [GRCh38]
Chr12:48377885 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3898_3964delinsTAGT (p.Ile1300_Thr1322delinsTer) indel not provided [RCV003557415] Chr12:47974785..47974851 [GRCh38]
Chr12:48368568..48368634 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4317+19G>A single nucleotide variant not provided [RCV003719223] Chr12:47974070 [GRCh38]
Chr12:48367853 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2259C>G (p.Gly753=) single nucleotide variant not provided [RCV003844667] Chr12:47982544 [GRCh38]
Chr12:48376327 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1117_1118del (p.Ala373fs) deletion not provided [RCV003566200] Chr12:47989232..47989233 [GRCh38]
Chr12:48383015..48383016 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.126T>A (p.Asn42Lys) single nucleotide variant not provided [RCV003852842] Chr12:48000085 [GRCh38]
Chr12:48393868 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1267-11C>T single nucleotide variant not provided [RCV003861326] Chr12:47987187 [GRCh38]
Chr12:48380970 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.274G>C (p.Asp92His) single nucleotide variant not provided [RCV003685466] Chr12:47999937 [GRCh38]
Chr12:48393720 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.292+15A>G single nucleotide variant not provided [RCV003711869] Chr12:47999904 [GRCh38]
Chr12:48393687 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.391C>T (p.Gln131Ter) single nucleotide variant not provided [RCV003720964] Chr12:47997909 [GRCh38]
Chr12:48391692 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3897G>C (p.Trp1299Cys) single nucleotide variant not provided [RCV003719204] Chr12:47974852 [GRCh38]
Chr12:48368635 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1337C>T (p.Thr446Ile) single nucleotide variant not provided [RCV003674899] Chr12:47987106 [GRCh38]
Chr12:48380889 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3913G>A (p.Gly1305Ser) single nucleotide variant not provided [RCV003566810] Chr12:47974836 [GRCh38]
Chr12:48368619 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3598-20C>T single nucleotide variant not provided [RCV003733836] Chr12:47975625 [GRCh38]
Chr12:48369408 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2185G>A (p.Gly729Ser) single nucleotide variant not provided [RCV003684155] Chr12:47982856 [GRCh38]
Chr12:48376639 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.233C>T (p.Pro78Leu) single nucleotide variant not provided [RCV003820051] Chr12:47999978 [GRCh38]
Chr12:48393761 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4235T>A (p.Leu1412His) single nucleotide variant not provided [RCV003823407] Chr12:47974171 [GRCh38]
Chr12:48367954 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3822C>G (p.Gly1274=) single nucleotide variant not provided [RCV003554637] Chr12:47975381 [GRCh38]
Chr12:48369164 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1069-16C>G single nucleotide variant not provided [RCV003684442] Chr12:47989297 [GRCh38]
Chr12:48383080 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3186T>G (p.Gly1062=) single nucleotide variant not provided [RCV003541846] Chr12:47977407 [GRCh38]
Chr12:48371190 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.293-15T>A single nucleotide variant not provided [RCV003564195] Chr12:47998446 [GRCh38]
Chr12:48392229 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2268A>C (p.Gly756=) single nucleotide variant not provided [RCV003707227] Chr12:47982535 [GRCh38]
Chr12:48376318 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.531+4A>T single nucleotide variant not provided [RCV003872011] Chr12:47997602 [GRCh38]
Chr12:48391385 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1024-20C>T single nucleotide variant not provided [RCV003823809] Chr12:47989825 [GRCh38]
Chr12:48383608 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.310-2A>G single nucleotide variant not provided [RCV003685373] Chr12:47998203 [GRCh38]
Chr12:48391986 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2464-17_2464-16delinsTT indel not provided [RCV003685256] Chr12:47980984..47980985 [GRCh38]
Chr12:48374767..48374768 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3783C>T (p.Ser1261=) single nucleotide variant not provided [RCV003676712] Chr12:47975420 [GRCh38]
Chr12:48369203 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4317+10G>A single nucleotide variant COL2A1-related disorder [RCV004540720]|not provided [RCV003565787] Chr12:47974079 [GRCh38]
Chr12:48367862 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2095-16G>C single nucleotide variant not provided [RCV003707414] Chr12:47982962 [GRCh38]
Chr12:48376745 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.456T>C (p.Asp152=) single nucleotide variant not provided [RCV003551288] Chr12:47997681 [GRCh38]
Chr12:48391464 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1348G>T (p.Gly450Cys) single nucleotide variant not provided [RCV003557197] Chr12:47987095 [GRCh38]
Chr12:48380878 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.977G>A (p.Arg326His) single nucleotide variant not provided [RCV003718784] Chr12:47992924 [GRCh38]
Chr12:48386707 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.531+9C>T single nucleotide variant not provided [RCV003675351] Chr12:47997597 [GRCh38]
Chr12:48391380 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3560C>G (p.Pro1187Arg) single nucleotide variant not provided [RCV003820431] Chr12:47976000 [GRCh38]
Chr12:48369783 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2680-7C>T single nucleotide variant not provided [RCV003860630] Chr12:47979571 [GRCh38]
Chr12:48373354 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1284dup (p.Gly429fs) duplication not provided [RCV003720985] Chr12:47987158..47987159 [GRCh38]
Chr12:48380941..48380942 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3273+20del deletion not provided [RCV003676772] Chr12:47977300 [GRCh38]
Chr12:48371083 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2453G>A (p.Arg818His) single nucleotide variant not provided [RCV003846475] Chr12:47981353 [GRCh38]
Chr12:48375136 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3926A>G (p.Asp1309Gly) single nucleotide variant not provided [RCV003567805] Chr12:47974823 [GRCh38]
Chr12:48368606 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1836_1837inv (p.Glu613Lys) inversion not provided [RCV003685905] Chr12:47984596..47984597 [GRCh38]
Chr12:48378379..48378380 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2734-18C>A single nucleotide variant not provided [RCV003711270] Chr12:47978776 [GRCh38]
Chr12:48372559 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3274-3C>T single nucleotide variant not provided [RCV003841861] Chr12:47977158 [GRCh38]
Chr12:48370941 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1588C>T (p.Pro530Ser) single nucleotide variant not provided [RCV003731093] Chr12:47985820 [GRCh38]
Chr12:48379603 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1530T>C (p.Gly510=) single nucleotide variant not provided [RCV003723086] Chr12:47985963 [GRCh38]
Chr12:48379746 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1561G>A (p.Asp521Asn) single nucleotide variant not provided [RCV003723096] Chr12:47985932 [GRCh38]
Chr12:48379715 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3238G>A (p.Gly1080Ser) single nucleotide variant not provided [RCV003723108] Chr12:47977355 [GRCh38]
Chr12:48371138 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2625+17T>A single nucleotide variant not provided [RCV003723077] Chr12:47980537 [GRCh38]
Chr12:48374320 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2381C>G (p.Pro794Arg) single nucleotide variant not provided [RCV003685349] Chr12:47981804 [GRCh38]
Chr12:48375587 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1759C>T (p.Pro587Ser) single nucleotide variant not provided [RCV003870267] Chr12:47985069 [GRCh38]
Chr12:48378852 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2434G>T (p.Ala812Ser) single nucleotide variant not provided [RCV003723170] Chr12:47981372 [GRCh38]
Chr12:48375155 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2641A>T (p.Thr881Ser) single nucleotide variant not provided [RCV003723245] Chr12:47980047 [GRCh38]
Chr12:48373830 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.925-9T>C single nucleotide variant not provided [RCV003684317] Chr12:47993511 [GRCh38]
Chr12:48387294 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.452G>C (p.Arg151Thr) single nucleotide variant not provided [RCV003868804] Chr12:47997685 [GRCh38]
Chr12:48391468 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.390A>G (p.Glu130=) single nucleotide variant COL2A1-related disorder [RCV004736424]|not provided [RCV003868805] Chr12:47997910 [GRCh38]
Chr12:48391693 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3413T>A (p.Leu1138Gln) single nucleotide variant not provided [RCV003679321] Chr12:47976834 [GRCh38]
Chr12:48370617 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2615C>G (p.Pro872Arg) single nucleotide variant not provided [RCV003712437] Chr12:47980564 [GRCh38]
Chr12:48374347 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3706dup (p.Leu1236fs) duplication not provided [RCV003556500] Chr12:47975496..47975497 [GRCh38]
Chr12:48369279..48369280 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.540T>C (p.Ala180=) single nucleotide variant not provided [RCV003853959] Chr12:47996617 [GRCh38]
Chr12:48390400 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1095T>G (p.Pro365=) single nucleotide variant not provided [RCV003853980] Chr12:47989255 [GRCh38]
Chr12:48383038 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.532-17G>T single nucleotide variant not provided [RCV003552591] Chr12:47996642 [GRCh38]
Chr12:48390425 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2778T>C (p.Asp926=) single nucleotide variant not provided [RCV003681571] Chr12:47978714 [GRCh38]
Chr12:48372497 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2194-2A>G single nucleotide variant not provided [RCV003683531] Chr12:47982611 [GRCh38]
Chr12:48376394 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4268C>G (p.Ala1423Gly) single nucleotide variant not provided [RCV003683625] Chr12:47974138 [GRCh38]
Chr12:48367921 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.342+8C>T single nucleotide variant not provided [RCV003685670] Chr12:47998161 [GRCh38]
Chr12:48391944 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3797T>C (p.Ile1266Thr) single nucleotide variant not provided [RCV003848307] Chr12:47975406 [GRCh38]
Chr12:48369189 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1680+16G>T single nucleotide variant not provided [RCV003821635] Chr12:47985712 [GRCh38]
Chr12:48379495 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.717G>A (p.Met239Ile) single nucleotide variant not provided [RCV003680652] Chr12:47995300 [GRCh38]
Chr12:48389083 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47982594_47982612del deletion not provided [RCV003554234] Chr12:47982590..47982608 [GRCh38]
Chr12:48376373..48376391 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1427C>T (p.Ala476Val) single nucleotide variant not provided [RCV003542133] Chr12:47986436 [GRCh38]
Chr12:48380219 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4462T>G (p.Ter1488Glu) single nucleotide variant not provided [RCV003555462] Chr12:47973409 [GRCh38]
Chr12:48367192 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.12:g.47975606del deletion not provided [RCV003566962] Chr12:47975604 [GRCh38]
Chr12:48369387 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.897G>C (p.Lys299Asn) single nucleotide variant not provided [RCV003552433] Chr12:47993836 [GRCh38]
Chr12:48387619 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.252G>A (p.Glu84=) single nucleotide variant not provided [RCV003680679] Chr12:47999959 [GRCh38]
Chr12:48393742 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.871-2del deletion not provided [RCV003568782] Chr12:47993864 [GRCh38]
Chr12:48387647 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1403G>A (p.Gly468Asp) single nucleotide variant not provided [RCV003842954] Chr12:47986851 [GRCh38]
Chr12:48380634 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1527+17G>C single nucleotide variant not provided [RCV003678050] Chr12:47986319 [GRCh38]
Chr12:48380102 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.835G>A (p.Gly279Arg) single nucleotide variant not provided [RCV003681152] Chr12:47994029 [GRCh38]
Chr12:48387812 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3504C>G (p.Pro1168=) single nucleotide variant not provided [RCV003848751] Chr12:47976056 [GRCh38]
Chr12:48369839 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2146C>T (p.Gln716Ter) single nucleotide variant not provided [RCV003682504] Chr12:47982895 [GRCh38]
Chr12:48376678 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1132_1135dup (p.Pro379fs) duplication not provided [RCV003681202] Chr12:47987696..47987697 [GRCh38]
Chr12:48381479..48381480 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.4098G>C (p.Leu1366=) single nucleotide variant not provided [RCV003711812] Chr12:47974308 [GRCh38]
Chr12:48368091 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3707T>G (p.Leu1236Arg) single nucleotide variant not provided [RCV003706116] Chr12:47975496 [GRCh38]
Chr12:48369279 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.969+17T>C single nucleotide variant not provided [RCV003706249] Chr12:47993441 [GRCh38]
Chr12:48387224 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2665G>A (p.Ala889Thr) single nucleotide variant not provided [RCV003566133] Chr12:47980023 [GRCh38]
Chr12:48373806 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3906dup (p.Asn1303fs) duplication not provided [RCV003708994] Chr12:47974842..47974843 [GRCh38]
Chr12:48368625..48368626 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.306_309dup (p.Gly104fs) duplication not provided [RCV003567475] Chr12:47998414..47998415 [GRCh38]
Chr12:48392197..48392198 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.889G>A (p.Gly297Ser) single nucleotide variant not provided [RCV003856990] Chr12:47993844 [GRCh38]
Chr12:48387627 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.627A>G (p.Arg209=) single nucleotide variant not provided [RCV003679852] Chr12:47995902 [GRCh38]
Chr12:48389685 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.4463A>C (p.Ter1488Ser) single nucleotide variant not provided [RCV003704964] Chr12:47973408 [GRCh38]
Chr12:48367191 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.343-15G>A single nucleotide variant not provided [RCV003822455] Chr12:47998079 [GRCh38]
Chr12:48391862 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2265G>T (p.Arg755Ser) single nucleotide variant not provided [RCV003678680] Chr12:47982538 [GRCh38]
Chr12:48376321 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1995+3A>T single nucleotide variant not provided [RCV003862807] Chr12:47983680 [GRCh38]
Chr12:48377463 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3509G>C (p.Gly1170Ala) single nucleotide variant not provided [RCV003680132] Chr12:47976051 [GRCh38]
Chr12:48369834 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.4057A>G (p.Ile1353Val) single nucleotide variant not provided [RCV003562478] Chr12:47974692 [GRCh38]
Chr12:48368475 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.105G>A (p.Val35=) single nucleotide variant not provided [RCV003674831] Chr12:48000106 [GRCh38]
Chr12:48393889 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.628G>A (p.Gly210Arg) single nucleotide variant not provided [RCV003706513] Chr12:47995901 [GRCh38]
Chr12:48389684 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.127G>C (p.Asp43His) single nucleotide variant not provided [RCV003860805] Chr12:48000084 [GRCh38]
Chr12:48393867 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3144A>G (p.Arg1048=) single nucleotide variant not provided [RCV003678274] Chr12:47977621 [GRCh38]
Chr12:48371404 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3816del (p.Glu1273fs) deletion not provided [RCV003680128] Chr12:47975387 [GRCh38]
Chr12:48369170 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.430-12C>G single nucleotide variant not provided [RCV003848040] Chr12:47997719 [GRCh38]
Chr12:48391502 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1062G>A (p.Gly354=) single nucleotide variant not provided [RCV003706544] Chr12:47989767 [GRCh38]
Chr12:48383550 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.242C>G (p.Pro81Arg) single nucleotide variant not provided [RCV003680414] Chr12:47999969 [GRCh38]
Chr12:48393752 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3166-15C>T single nucleotide variant not provided [RCV003842085] Chr12:47977442 [GRCh38]
Chr12:48371225 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3782C>T (p.Ser1261Phe) single nucleotide variant not provided [RCV003824337] Chr12:47975421 [GRCh38]
Chr12:48369204 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3045C>T (p.Asp1015=) single nucleotide variant not provided [RCV003681664] Chr12:47978076 [GRCh38]
Chr12:48371859 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3722C>A (p.Ala1241Asp) single nucleotide variant not provided [RCV003704296] Chr12:47975481 [GRCh38]
Chr12:48369264 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2658C>T (p.Ala886=) single nucleotide variant not provided [RCV003853978] Chr12:47980030 [GRCh38]
Chr12:48373813 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2427T>C (p.Pro809=) single nucleotide variant not provided [RCV003853979] Chr12:47981379 [GRCh38]
Chr12:48375162 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3448G>T (p.Asp1150Tyr) single nucleotide variant not provided [RCV003680678] Chr12:47976555 [GRCh38]
Chr12:48370338 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3886+17G>C single nucleotide variant not provided [RCV003676185] Chr12:47975300 [GRCh38]
Chr12:48369083 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1928C>A (p.Pro643His) single nucleotide variant not provided [RCV003845287] Chr12:47984100 [GRCh38]
Chr12:48377883 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3009del (p.Glu1003fs) deletion not provided [RCV003680697] Chr12:47978112 [GRCh38]
Chr12:48371895 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3055C>T (p.Pro1019Ser) single nucleotide variant not provided [RCV003683355] Chr12:47978066 [GRCh38]
Chr12:48371849 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3274-6C>T single nucleotide variant not provided [RCV003866544] Chr12:47977161 [GRCh38]
Chr12:48370944 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2486C>A (p.Pro829His) single nucleotide variant not provided [RCV003706963] Chr12:47980946 [GRCh38]
Chr12:48374729 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.6dup (p.Arg3fs) duplication not provided [RCV003677733] Chr12:48004315..48004316 [GRCh38]
Chr12:48398098..48398099 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.609+13A>G single nucleotide variant not provided [RCV003677737] Chr12:47996535 [GRCh38]
Chr12:48390318 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3210_3217dup (p.Pro1073fs) duplication not provided [RCV003542139] Chr12:47977375..47977376 [GRCh38]
Chr12:48371158..48371159 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.-2C>A single nucleotide variant COL2A1-related disorder [RCV004543987] Chr12:48004323 [GRCh38]
Chr12:48398106 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.696del (p.Glu232fs) deletion Stickler syndrome, type I, nonsyndromic ocular [RCV003989461] Chr12:47995722 [GRCh38]
Chr12:48389505 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1372C>G (p.Pro458Ala) single nucleotide variant Stickler syndrome type 1 [RCV003991817] Chr12:47986882 [GRCh38]
Chr12:48380665 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2050-6C>T single nucleotide variant COL2A1-related disorder [RCV004536921] Chr12:47983143 [GRCh38]
Chr12:48376926 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.371C>G (p.Pro124Arg) single nucleotide variant COL2A1-related disorder [RCV004531833] Chr12:47998036 [GRCh38]
Chr12:48391819 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2181T>C (p.Thr727=) single nucleotide variant COL2A1-related disorder [RCV004539279] Chr12:47982860 [GRCh38]
Chr12:48376643 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1854T>C (p.Gly618=) single nucleotide variant COL2A1-related disorder [RCV004531822] Chr12:47984579 [GRCh38]
Chr12:48378362 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.2140G>C (p.Gly714Arg) single nucleotide variant not provided [RCV003887451] Chr12:47982901 [GRCh38]
Chr12:48376684 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.86-47C>G single nucleotide variant COL2A1-related disorder [RCV004539468] Chr12:48000172 [GRCh38]
Chr12:48393955 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.292+2T>A single nucleotide variant Achondrogenesis type II [RCV003988408] Chr12:47999917 [GRCh38]
Chr12:48393700 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.516C>T (p.Pro172=) single nucleotide variant COL2A1-related disorder [RCV004532054] Chr12:47997621 [GRCh38]
Chr12:48391404 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1911G>T (p.Glu637Asp) single nucleotide variant COL2A1-related disorder [RCV004534434] Chr12:47984117 [GRCh38]
Chr12:48377900 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.870+2T>C single nucleotide variant COL2A1-related disorder [RCV004534576] Chr12:47993992 [GRCh38]
Chr12:48387775 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1527+133G>A single nucleotide variant COL2A1-related disorder [RCV004545564] Chr12:47986203 [GRCh38]
Chr12:48379986 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3158G>C (p.Gly1053Ala) single nucleotide variant Achondrogenesis type II [RCV004555254] Chr12:47977607 [GRCh38]
Chr12:48371390 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2448T>C (p.Gly816=) single nucleotide variant COL2A1-related disorder [RCV004534538] Chr12:47981358 [GRCh38]
Chr12:48375141 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1527+1G>C single nucleotide variant Stickler syndrome type 1 [RCV003994720] Chr12:47986335 [GRCh38]
Chr12:48380118 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1419+25G>C single nucleotide variant COL2A1-related disorder [RCV004534679] Chr12:47986810 [GRCh38]
Chr12:48380593 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1366-1G>A single nucleotide variant not provided [RCV003887775] Chr12:47986889 [GRCh38]
Chr12:48380672 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3436-3C>A single nucleotide variant Stickler syndrome type 1 [RCV003992126] Chr12:47976570 [GRCh38]
Chr12:48370353 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3912A>G (p.Gln1304=) single nucleotide variant COL2A1-related disorder [RCV004531772] Chr12:47974837 [GRCh38]
Chr12:48368620 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.989G>A (p.Gly330Asp) single nucleotide variant Stickler syndrome type 1 [RCV003991916] Chr12:47992912 [GRCh38]
Chr12:48386695 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4093A>G (p.Asn1365Asp) single nucleotide variant not provided [RCV004588908] Chr12:47974313 [GRCh38]
Chr12:48368096 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3144A>T (p.Arg1048Ser) single nucleotide variant Congenital aneurysm of ascending aorta [RCV004555526] Chr12:47977621 [GRCh38]
Chr12:48371404 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3484_3485del (p.Gly1161_Pro1162insTer) deletion Stickler syndrome type 1 [RCV004566561] Chr12:47976518..47976519 [GRCh38]
Chr12:48370301..48370302 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1025G>A (p.Gly342Asp) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560200] Chr12:47989804 [GRCh38]
Chr12:48383587 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.1315C>T (p.Pro439Ser) single nucleotide variant Inborn genetic diseases [RCV004437392] Chr12:47987128 [GRCh38]
Chr12:48380911 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3550A>G (p.Ile1184Val) single nucleotide variant Inborn genetic diseases [RCV004437393] Chr12:47976010 [GRCh38]
Chr12:48369793 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.70C>A (p.Gln24Lys) single nucleotide variant Inborn genetic diseases [RCV004437395] Chr12:48004252 [GRCh38]
Chr12:48398035 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2645G>T (p.Gly882Val) single nucleotide variant Spondyloepiphyseal dysplasia congenita [RCV004596034] Chr12:47980043 [GRCh38]
Chr12:48373826 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1676C>A (p.Ala559Asp) single nucleotide variant not provided [RCV004592410] Chr12:47985732 [GRCh38]
Chr12:48379515 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.4175A>G (p.His1392Arg) single nucleotide variant not provided [RCV004576045] Chr12:47974231 [GRCh38]
Chr12:48368014 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2564G>T (p.Gly855Val) single nucleotide variant not provided [RCV004702111] Chr12:47980615 [GRCh38]
Chr12:48374398 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2266G>C (p.Gly756Arg) single nucleotide variant not provided [RCV004592385] Chr12:47982537 [GRCh38]
Chr12:48376320 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.692G>A (p.Gly231Asp) single nucleotide variant Type 2 collagenopathy [RCV004595386] Chr12:47995726 [GRCh38]
Chr12:48389509 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1931del (p.Pro644fs) deletion not provided [RCV004592145] Chr12:47984097 [GRCh38]
Chr12:48377880 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.85+437_531+405del deletion not provided [RCV004697800] Chr12:47997201..48003800 [GRCh38]
Chr12:48390984..48397583 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2924del (p.Gly975fs) deletion not provided [RCV004696799] Chr12:47978370 [GRCh38]
Chr12:48372153 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NC_000012.11:g.(?_48377202)_(48380607_?)del deletion not provided [RCV004578502] Chr12:48377202..48380607 [GRCh37]
Chr12:12q13.11		 pathogenic
NC_000012.11:g.(?_48388187)_(48398104_?)dup duplication not provided [RCV004578501] Chr12:48388187..48398104 [GRCh37]
Chr12:12q13.11		 uncertain significance
NC_000012.11:g.(?_48373772)_(48393928_?)del deletion not provided [RCV004578500] Chr12:48373772..48393928 [GRCh37]
Chr12:12q13.11		 pathogenic
NC_000012.11:g.(?_48238529)_(48539491_?)del deletion not provided [RCV004578499] Chr12:48238529..48539491 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2463+1G>A single nucleotide variant not provided [RCV004696800] Chr12:47981342 [GRCh38]
Chr12:48375125 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1026_1034del (p.Ala343_Gly345del) deletion COL2A1-related disorder [RCV004728593] Chr12:47989795..47989803 [GRCh38]
Chr12:48383578..48383586 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1804A>G (p.Met602Val) single nucleotide variant not provided [RCV004725842] Chr12:47985024 [GRCh38]
Chr12:48378807 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3884G>A (p.Ser1295Asn) single nucleotide variant not provided [RCV004723817] Chr12:47975319 [GRCh38]
Chr12:48369102 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1678del (p.Arg560fs) deletion not provided [RCV004726014] Chr12:47985730 [GRCh38]
Chr12:48379513 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.376-2A>G single nucleotide variant COL2A1-related disorder [RCV004726439] Chr12:47997926 [GRCh38]
Chr12:48391709 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.3886+2T>G single nucleotide variant COL2A1-related disorder [RCV004726348] Chr12:47975315 [GRCh38]
Chr12:48369098 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.3581G>A (p.Gly1194Asp) single nucleotide variant not provided [RCV004764059]   pathogenic
NM_001844.5(COL2A1):c.1278C>T (p.Gly426=) single nucleotide variant COL2A1-related disorder [RCV004724481] Chr12:47987165 [GRCh38]
Chr12:48380948 [GRCh37]
Chr12:12q13.11		 likely benign
NM_001844.5(COL2A1):c.3158G>T (p.Gly1053Val) single nucleotide variant COL2A1-related disorder [RCV004724482] Chr12:47977607 [GRCh38]
Chr12:48371390 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1379T>C (p.Ile460Thr) single nucleotide variant COL2A1-related disorder [RCV004724565] Chr12:47986875 [GRCh38]
Chr12:48380658 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.3176G>C (p.Gly1059Ala) single nucleotide variant COL2A1-related disorder [RCV004724717] Chr12:47977417 [GRCh38]
Chr12:48371200 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2848G>C (p.Ala950Pro) single nucleotide variant not provided [RCV004771855] Chr12:47978644 [GRCh38]
Chr12:48372427 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1221+4del deletion not provided [RCV004771962] Chr12:47987607 [GRCh38]
Chr12:48381390 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.617T>C (p.Met206Thr) single nucleotide variant not provided [RCV004773872] Chr12:47995912 [GRCh38]
Chr12:48389695 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2711G>C (p.Arg904Pro) single nucleotide variant COL2A1-related disorder [RCV004727868] Chr12:47979533 [GRCh38]
Chr12:48373316 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.928G>T (p.Glu310Ter) single nucleotide variant COL2A1-related disorder [RCV004730273] Chr12:47993499 [GRCh38]
Chr12:48387282 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2464G>T (p.Gly822Cys) single nucleotide variant COL2A1-related disorder [RCV004729983] Chr12:47980968 [GRCh38]
Chr12:48374751 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.434C>A (p.Ala145Asp) single nucleotide variant not provided [RCV004770927] Chr12:47997703 [GRCh38]
Chr12:48391486 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2895+1G>T single nucleotide variant Stickler syndrome type 1 [RCV004776390] Chr12:47978596 [GRCh38]
Chr12:48372379 [GRCh37]		 pathogenic
NM_001844.5(COL2A1):c.2059G>C (p.Gly687Arg) single nucleotide variant not provided [RCV004760953]   pathogenic
NM_001844.5(COL2A1):c.2050-1G>C single nucleotide variant not provided [RCV004760958]   pathogenic
NM_001844.5(COL2A1):c.4274G>T (p.Gly1425Val) single nucleotide variant not provided [RCV004761379]   uncertain significance
NM_001844.5(COL2A1):c.607A>G (p.Met203Val) single nucleotide variant COL2A1-related disorder [RCV004735380] Chr12:47996550 [GRCh38]
Chr12:48390333 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1502G>T (p.Gly501Val) single nucleotide variant COL2A1-related disorder [RCV004728358] Chr12:47986361 [GRCh38]
Chr12:48380144 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1528-1G>A single nucleotide variant COL2A1-related disorder [RCV004724555] Chr12:47985966 [GRCh38]
Chr12:48379749 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.1553C>G (p.Pro518Arg) single nucleotide variant Stickler syndrome, type I, nonsyndromic ocular [RCV004698929] Chr12:47985940 [GRCh38]
Chr12:48379723 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.2715dup (p.Gly906fs) duplication not provided [RCV004721855] Chr12:47979528..47979529 [GRCh38]
Chr12:48373311..48373312 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2014G>A (p.Gly672Ser) single nucleotide variant not provided [RCV004702112] Chr12:47983420 [GRCh38]
Chr12:48377203 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.1351C>T (p.Pro451Ser) single nucleotide variant not provided [RCV004726054] Chr12:47987092 [GRCh38]
Chr12:48380875 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.971G>A (p.Gly324Asp) single nucleotide variant not provided [RCV004726056] Chr12:47992930 [GRCh38]
Chr12:48386713 [GRCh37]
Chr12:12q13.11		 pathogenic
NM_001844.5(COL2A1):c.2513C>T (p.Pro838Leu) single nucleotide variant COL2A1-related disorder [RCV004735007] Chr12:47980919 [GRCh38]
Chr12:48374702 [GRCh37]
Chr12:12q13.11		 uncertain significance
NM_001844.5(COL2A1):c.1043dup (p.Gln349fs) duplication COL2A1-related disorder [RCV004726594] Chr12:47989785..47989786 [GRCh38]
Chr12:48383568..48383569 [GRCh37]
Chr12:12q13.11		 likely pathogenic
NM_001844.5(COL2A1):c.2026G>A (p.Glu676Lys) single nucleotide variant not provided [RCV004761516]   uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR29Ahsa-miR-29a-3pMirecordsexternal_info{changed}NA21665270

Predicted Target Of
Summary Value
Count of predictions:2302
Count of miRNA genes:903
Interacting mature miRNAs:1090
Transcripts:ENST00000337299, ENST00000380518, ENST00000465743, ENST00000466884, ENST00000474996, ENST00000483376, ENST00000490609, ENST00000493991, ENST00000546974
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407048483GWAS697459_Hxanthine measurement QTL GWAS697459 (human)0.000003xanthine measurement124797520647975207Human
406928352GWAS577328_Happendicular lean mass QTL GWAS577328 (human)5e-10appendicular lean mass124799931547999316Human
407296999GWAS945975_Hbrain measurement QTL GWAS945975 (human)3e-09brain measurementbrain measurement (CMO:0000911)124800429748004298Human
406927491GWAS576467_Hneuroimaging measurement QTL GWAS576467 (human)2e-08neuroimaging measurement124799116147991162Human
407238880GWAS887856_Hbody height QTL GWAS887856 (human)3e-108body height (VT:0001253)body height (CMO:0000106)124799865047998651Human
406910631GWAS559607_Hneuroimaging measurement QTL GWAS559607 (human)0.00001neuroimaging measurement124799116147991162Human
407175948GWAS824924_Hcortical surface area measurement QTL GWAS824924 (human)5e-11cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)124800429748004298Human
407105097GWAS754073_Hneutrophil percentage of leukocytes QTL GWAS754073 (human)9e-11neutrophil percentage of leukocytesblood neutrophil count to total leukocyte count ratio (CMO:0000370)124798169247981693Human
406927855GWAS576831_Hretinal detachment, retinal break QTL GWAS576831 (human)0.000001retinal detachment, retinal break124798073047980731Human
406984268GWAS633244_Hcortical surface area measurement, neuroimaging measurement QTL GWAS633244 (human)1e-08cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)124798418747984188Human
406983341GWAS632317_HBMI-adjusted waist circumference QTL GWAS632317 (human)1e-09BMI-adjusted waist circumference124799865047998651Human
407320343GWAS969319_HHbA1c measurement QTL GWAS969319 (human)5e-13HbA1c measurementblood hemoglobin A1c level (CMO:0002786)124799431947994320Human
407175988GWAS824964_Hprostate carcinoma QTL GWAS824964 (human)0.000006prostate carcinoma124798178547981786Human
407259927GWAS908903_Htotal cortical area measurement QTL GWAS908903 (human)4e-09total cortical area measurement124799245847992459Human
406982800GWAS631776_Htriglyceride measurement QTL GWAS631776 (human)0.0000006triglyceride measurementblood triglyceride level (CMO:0000118)124798318647983187Human
407160502GWAS809478_Hpeak expiratory flow QTL GWAS809478 (human)6e-24peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)124800524548005246Human
407294960GWAS943936_Hlymphocyte count QTL GWAS943936 (human)3e-10lymphocyte countblood lymphocyte count (CMO:0000031)124799327447993275Human
407109435GWAS758411_Hbody height QTL GWAS758411 (human)5e-21body height (VT:0001253)body height (CMO:0000106)124798397347983974Human
406984410GWAS633386_Hbrain measurement, neuroimaging measurement QTL GWAS633386 (human)4e-08brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)124798418747984188Human
407324829GWAS973805_Hbody height QTL GWAS973805 (human)2e-14body height (VT:0001253)body height (CMO:0000106)124798022847980229Human
407215262GWAS864238_Hbody height QTL GWAS864238 (human)9e-12body height (VT:0001253)body height (CMO:0000106)124797811447978115Human
406925629GWAS574605_Hbody height QTL GWAS574605 (human)2e-16body height (VT:0001253)body height (CMO:0000106)124799865047998651Human
407314329GWAS963305_Hcortical surface area measurement QTL GWAS963305 (human)1e-10cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)124800429748004298Human
407241465GWAS890441_Hbody height QTL GWAS890441 (human)6e-61body height (VT:0001253)body height (CMO:0000106)124797475847974759Human

Markers in Region
D12S85  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371247,336,723 - 47,336,847UniSTSGRCh37
Build 361245,622,990 - 45,623,114RGDNCBI36
Celera1246,133,772 - 46,133,894RGD
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map12p13.2-q24.1UniSTS
HuRef1244,367,693 - 44,367,811UniSTS
Marshfield Genetic Map1261.34UniSTS
Marshfield Genetic Map1261.34RGD
Genethon Genetic Map1262.7UniSTS
deCODE Assembly Map1260.49UniSTS
GeneMap99-GB4 RH Map12207.93UniSTS
Whitehead-RH Map12276.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12394.0UniSTS
D12S1663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371244,271,620 - 44,271,862UniSTSGRCh37
Build 361242,557,887 - 42,558,129RGDNCBI36
Celera1243,074,968 - 43,075,210RGD
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q12-q13.3UniSTS
Cytogenetic Map12q13.11UniSTS
HuRef1241,300,220 - 41,300,462UniSTS
Marshfield Genetic Map1256.38UniSTS
Marshfield Genetic Map1256.38RGD
Genethon Genetic Map1257.7UniSTS
Whitehead-YAC Contig Map12 UniSTS
D12S2021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,366,830 - 48,367,175UniSTSGRCh37
Build 361246,653,097 - 46,653,442RGDNCBI36
Celera1247,164,478 - 47,164,823RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,398,670 - 45,399,015UniSTS
TNG Radiation Hybrid Map1221371.0UniSTS
Stanford-G3 RH Map121857.0UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12361.3UniSTS
GeneMap99-G3 RH Map121803.0UniSTS
SHGC-79734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,386,719 - 48,386,911UniSTSGRCh37
Build 361246,672,986 - 46,673,178RGDNCBI36
Celera1247,184,368 - 47,184,560RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,418,561 - 45,418,753UniSTS
TNG Radiation Hybrid Map1221684.0UniSTS
GDB:177726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,155 - 48,370,408UniSTSGRCh37
Build 361246,653,422 - 46,656,675RGDNCBI36
Celera1247,164,803 - 47,168,056RGD
HuRef1245,398,995 - 45,402,248UniSTS
GDB:177727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,825 - 48,369,423UniSTSGRCh37
Build 361246,654,092 - 46,655,690RGDNCBI36
Celera1247,165,473 - 47,167,071RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,399,665 - 45,401,263UniSTS
GDB:177728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,369,682 - 48,370,408UniSTSGRCh37
Build 361246,655,949 - 46,656,675RGDNCBI36
Celera1247,167,330 - 47,168,056RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,401,522 - 45,402,248UniSTS
GDB:180356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,368,059 - 48,368,652UniSTSGRCh37
Build 361246,654,326 - 46,654,919RGDNCBI36
Celera1247,165,707 - 47,166,300RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,399,899 - 45,400,492UniSTS
GDB:180743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,375,988 - 48,376,568UniSTSGRCh37
Build 361246,662,255 - 46,662,835RGDNCBI36
Celera1247,173,637 - 47,174,217RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,407,829 - 45,408,409UniSTS
GDB:512193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,387,494 - 48,387,865UniSTSGRCh37
Build 361246,673,761 - 46,674,132RGDNCBI36
Celera1247,185,143 - 47,185,514RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,419,336 - 45,419,707UniSTS
GDB:626695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,380,090 - 48,380,266UniSTSGRCh37
Build 361246,666,357 - 46,666,533RGDNCBI36
Celera1247,177,738 - 47,177,914RGD
Cytogenetic Map12q13.11UniSTS
HuRef1245,411,931 - 45,412,107UniSTS
COL2A1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,961 - 48,368,526UniSTSGRCh37
Build 361246,654,228 - 46,654,793RGDNCBI36
Celera1247,165,609 - 47,166,174RGD
HuRef1245,399,801 - 45,400,366UniSTS
RH68551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,366,819 - 48,366,915UniSTSGRCh37
Build 361246,653,086 - 46,653,182RGDNCBI36
Celera1247,164,467 - 47,164,563RGD
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef1245,398,659 - 45,398,755UniSTS
GeneMap99-GB4 RH Map12211.47UniSTS
NCBI RH Map12357.8UniSTS
MARC_24087-24088:1040064543:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,367,010 - 48,367,967UniSTSGRCh37
Build 361246,653,277 - 46,654,234RGDNCBI36
Celera1247,164,658 - 47,165,615RGD
HuRef1245,398,850 - 45,399,807UniSTS
GDB:177260  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map7q22.1UniSTS
GDB:577666  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577655  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577659  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:577662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,379,341 - 48,380,948UniSTSGRCh37
Celera1247,176,990 - 47,178,597UniSTS
Cytogenetic Map12q13.11UniSTS
HuRef1245,411,182 - 45,412,790UniSTS
GDB:577664  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578728  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578731  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578732  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
GDB:578733  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13.11UniSTS
MARC_15881-15882:1015249633:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371248,390,365 - 48,391,476UniSTSGRCh37
Celera1247,188,014 - 47,189,125UniSTS
HuRef1245,422,207 - 45,423,318UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
931 2167 2382 1772 4758 1246 1688 6 326 1175 197 1972 5289 4842 36 3524 570 1612 1232 140 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC116449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS025620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J00116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC258754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC303393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L00977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L10347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M37126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X13783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X16711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X57011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X58709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000337299   ⟹   ENSP00000338213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,973,407 - 48,004,506 (-)Ensembl
Ensembl Acc Id: ENST00000380518   ⟹   ENSP00000369889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,972,967 - 48,004,476 (-)Ensembl
Ensembl Acc Id: ENST00000465743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,002,622 - 48,004,362 (-)Ensembl
Ensembl Acc Id: ENST00000466884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,998,169 - 47,998,859 (-)Ensembl
Ensembl Acc Id: ENST00000474996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,997,615 - 48,004,449 (-)Ensembl
Ensembl Acc Id: ENST00000483376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,981,343 - 47,983,855 (-)Ensembl
Ensembl Acc Id: ENST00000490609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,999,697 - 48,004,554 (-)Ensembl
Ensembl Acc Id: ENST00000493991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,973,201 - 47,988,471 (-)Ensembl
Ensembl Acc Id: ENST00000546974
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1247,975,353 - 47,977,445 (-)Ensembl
RefSeq Acc Id: NM_001844   ⟹   NP_001835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,004,476 (-)NCBI
GRCh371248,366,748 - 48,398,285 (-)ENTREZGENE
Build 361246,653,015 - 46,684,552 (-)NCBI Archive
HuRef1245,398,588 - 45,430,128 (-)ENTREZGENE
CHM1_11248,332,620 - 48,364,163 (-)NCBI
T2T-CHM13v2.01247,934,691 - 47,966,208 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033150   ⟹   NP_149162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,004,476 (-)NCBI
GRCh371248,366,748 - 48,398,285 (-)ENTREZGENE
Build 361246,653,015 - 46,684,552 (-)NCBI Archive
HuRef1245,398,588 - 45,430,128 (-)ENTREZGENE
CHM1_11248,332,620 - 48,364,163 (-)NCBI
T2T-CHM13v2.01247,934,691 - 47,966,208 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018828   ⟹   XP_016874317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018829   ⟹   XP_016874318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018830   ⟹   XP_016874319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,006,212 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018831   ⟹   XP_016874320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,001,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428315   ⟹   XP_047284271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,972,967 - 48,005,618 (-)NCBI
RefSeq Acc Id: XM_054371136   ⟹   XP_054227111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371137   ⟹   XP_054227112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371138   ⟹   XP_054227113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,944 (-)NCBI
RefSeq Acc Id: XM_054371139   ⟹   XP_054227114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,963,285 (-)NCBI
RefSeq Acc Id: XM_054371140   ⟹   XP_054227115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01247,934,691 - 47,967,350 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001835 (Get FASTA)   NCBI Sequence Viewer  
  NP_149162 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874317 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874318 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874319 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874320 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227115 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51997 (Get FASTA)   NCBI Sequence Viewer  
  AAA52037 (Get FASTA)   NCBI Sequence Viewer  
  AAA52038 (Get FASTA)   NCBI Sequence Viewer  
  AAA52039 (Get FASTA)   NCBI Sequence Viewer  
  AAA52051 (Get FASTA)   NCBI Sequence Viewer  
  AAA58428 (Get FASTA)   NCBI Sequence Viewer  
  AAA73873 (Get FASTA)   NCBI Sequence Viewer  
  AAB60370 (Get FASTA)   NCBI Sequence Viewer  
  AAC41772 (Get FASTA)   NCBI Sequence Viewer  
  AAD14239 (Get FASTA)   NCBI Sequence Viewer  
  AAD15286 (Get FASTA)   NCBI Sequence Viewer  
  AAH07252 (Get FASTA)   NCBI Sequence Viewer  
  AAI16450 (Get FASTA)   NCBI Sequence Viewer  
  AAP35869 (Get FASTA)   NCBI Sequence Viewer  
  CAA25092 (Get FASTA)   NCBI Sequence Viewer  
  CAA26223 (Get FASTA)   NCBI Sequence Viewer  
  CAA26224 (Get FASTA)   NCBI Sequence Viewer  
  CAA26225 (Get FASTA)   NCBI Sequence Viewer  
  CAA26226 (Get FASTA)   NCBI Sequence Viewer  
  CAA26227 (Get FASTA)   NCBI Sequence Viewer  
  CAA27041 (Get FASTA)   NCBI Sequence Viewer  
  CAA29604 (Get FASTA)   NCBI Sequence Viewer  
  CAA32030 (Get FASTA)   NCBI Sequence Viewer  
  CAA34278 (Get FASTA)   NCBI Sequence Viewer  
  CAA34279 (Get FASTA)   NCBI Sequence Viewer  
  CAA34280 (Get FASTA)   NCBI Sequence Viewer  
  CAA34281 (Get FASTA)   NCBI Sequence Viewer  
  CAA34282 (Get FASTA)   NCBI Sequence Viewer  
  CAA34283 (Get FASTA)   NCBI Sequence Viewer  
  CAA34284 (Get FASTA)   NCBI Sequence Viewer  
  CAA34488 (Get FASTA)   NCBI Sequence Viewer  
  CAA34683 (Get FASTA)   NCBI Sequence Viewer  
  CAA40330 (Get FASTA)   NCBI Sequence Viewer  
  CAI46208 (Get FASTA)   NCBI Sequence Viewer  
  CAI61687 (Get FASTA)   NCBI Sequence Viewer  
  CDM55396 (Get FASTA)   NCBI Sequence Viewer  
  CDM55577 (Get FASTA)   NCBI Sequence Viewer  
  EAW57966 (Get FASTA)   NCBI Sequence Viewer  
  EAW57967 (Get FASTA)   NCBI Sequence Viewer  
  EAW57968 (Get FASTA)   NCBI Sequence Viewer  
  EAW57969 (Get FASTA)   NCBI Sequence Viewer  
  EAW57970 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000338213
  ENSP00000338213.6
  ENSP00000369889
  ENSP00000369889.3
GenBank Protein P02458 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_149162   ⟸   NM_033150
- Peptide Label: isoform 2 precursor
- UniProtKB: P02458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001835   ⟸   NM_001844
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UE42 (UniProtKB/Swiss-Prot),   Q9UE41 (UniProtKB/Swiss-Prot),   Q9UE40 (UniProtKB/Swiss-Prot),   Q9UE39 (UniProtKB/Swiss-Prot),   Q9UE38 (UniProtKB/Swiss-Prot),   Q99227 (UniProtKB/Swiss-Prot),   Q96IT5 (UniProtKB/Swiss-Prot),   Q6LBY3 (UniProtKB/Swiss-Prot),   Q6LBY2 (UniProtKB/Swiss-Prot),   Q6LBY1 (UniProtKB/Swiss-Prot),   Q2V4X7 (UniProtKB/Swiss-Prot),   Q1JQ82 (UniProtKB/Swiss-Prot),   Q16672 (UniProtKB/Swiss-Prot),   Q14058 (UniProtKB/Swiss-Prot),   Q14056 (UniProtKB/Swiss-Prot),   Q14047 (UniProtKB/Swiss-Prot),   Q14046 (UniProtKB/Swiss-Prot),   Q14045 (UniProtKB/Swiss-Prot),   Q14044 (UniProtKB/Swiss-Prot),   Q14009 (UniProtKB/Swiss-Prot),   Q12985 (UniProtKB/Swiss-Prot),   A6NGA0 (UniProtKB/Swiss-Prot),   Q9UE43 (UniProtKB/Swiss-Prot),   P02458 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874319   ⟸   XM_017018830
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874318   ⟸   XM_017018829
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016874317   ⟸   XM_017018828
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016874320   ⟸   XM_017018831
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000338213   ⟸   ENST00000337299
Ensembl Acc Id: ENSP00000369889   ⟸   ENST00000380518
RefSeq Acc Id: XP_047284271   ⟸   XM_047428315
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227113   ⟸   XM_054371138
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054227112   ⟸   XM_054371137
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227111   ⟸   XM_054371136
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054227115   ⟸   XM_054371140
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054227114   ⟸   XM_054371139
- Peptide Label: isoform X4
Protein Domains
Fibrillar collagen NC1   VWFC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02458-F1-model_v2 AlphaFold P02458 1-1487 view protein structure

Promoters
RGD ID:7223727
Promoter ID:EPDNEW_H17609
Type:multiple initiation site
Name:COL2A1_1
Description:collagen type II alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17610  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381247,977,426 - 47,977,486EPDNEW
RGD ID:7223729
Promoter ID:EPDNEW_H17610
Type:initiation region
Name:COL2A1_2
Description:collagen type II alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17609  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,004,476 - 48,004,536EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2200 AgrOrtholog
COSMIC COL2A1 COSMIC
Ensembl Genes ENSG00000139219 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337299 ENTREZGENE
  ENST00000337299.7 UniProtKB/Swiss-Prot
  ENST00000380518 ENTREZGENE
  ENST00000380518.8 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.120.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Complement Module, domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000139219 GTEx
HGNC ID HGNC:2200 ENTREZGENE
Human Proteome Map COL2A1 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot
  Collagen_superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fib_collagen_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_dom UniProtKB/Swiss-Prot
KEGG Report hsa:1280 UniProtKB/Swiss-Prot
NCBI Gene 1280 ENTREZGENE
OMIM 120140 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-1(II) CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COLFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot
  VWC UniProtKB/Swiss-Prot
PharmGKB PA26715 PharmGKB
PROSITE NC1_FIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFC_1 UniProtKB/Swiss-Prot
  VWFC_2 UniProtKB/Swiss-Prot
SMART COLFI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWC UniProtKB/Swiss-Prot
Superfamily-SCOP FnI-like domain UniProtKB/Swiss-Prot
UniProt A6NGA0 ENTREZGENE
  CO2A1_HUMAN UniProtKB/Swiss-Prot
  L8EBB9_HUMAN UniProtKB/TrEMBL
  P02458 ENTREZGENE
  Q12985 ENTREZGENE
  Q14009 ENTREZGENE
  Q14044 ENTREZGENE
  Q14045 ENTREZGENE
  Q14046 ENTREZGENE
  Q14047 ENTREZGENE
  Q14056 ENTREZGENE
  Q14058 ENTREZGENE
  Q16561_HUMAN UniProtKB/TrEMBL
  Q16672 ENTREZGENE
  Q1JQ82 ENTREZGENE
  Q2V4X7 ENTREZGENE
  Q2V4X9_HUMAN UniProtKB/TrEMBL
  Q6LBY1 ENTREZGENE
  Q6LBY2 ENTREZGENE
  Q6LBY3 ENTREZGENE
  Q96IT5 ENTREZGENE
  Q99227 ENTREZGENE
  Q9UE38 ENTREZGENE
  Q9UE39 ENTREZGENE
  Q9UE40 ENTREZGENE
  Q9UE41 ENTREZGENE
  Q9UE42 ENTREZGENE
  Q9UE43 ENTREZGENE
UniProt Secondary A6NGA0 UniProtKB/Swiss-Prot
  Q12985 UniProtKB/Swiss-Prot
  Q14009 UniProtKB/Swiss-Prot
  Q14044 UniProtKB/Swiss-Prot
  Q14045 UniProtKB/Swiss-Prot
  Q14046 UniProtKB/Swiss-Prot
  Q14047 UniProtKB/Swiss-Prot
  Q14056 UniProtKB/Swiss-Prot
  Q14058 UniProtKB/Swiss-Prot
  Q16672 UniProtKB/Swiss-Prot
  Q1JQ82 UniProtKB/Swiss-Prot
  Q2V4X7 UniProtKB/Swiss-Prot
  Q6LBY1 UniProtKB/Swiss-Prot
  Q6LBY2 UniProtKB/Swiss-Prot
  Q6LBY3 UniProtKB/Swiss-Prot
  Q96IT5 UniProtKB/Swiss-Prot
  Q99227 UniProtKB/Swiss-Prot
  Q9UE38 UniProtKB/Swiss-Prot
  Q9UE39 UniProtKB/Swiss-Prot
  Q9UE40 UniProtKB/Swiss-Prot
  Q9UE41 UniProtKB/Swiss-Prot
  Q9UE42 UniProtKB/Swiss-Prot
  Q9UE43 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL2A1  collagen type II alpha 1 chain  COL2A1  collagen type II alpha 1  Symbol and/or name change 5135510 APPROVED
2016-04-05 COL2A1  collagen type II alpha 1  AOM  arthroophthalmopathy, progressive (Stickler syndrome)  Data merged from RGD:1343174 737654 PROVISIONAL
2016-01-26 COL2A1  collagen type II alpha 1  COL2A1  collagen, type II, alpha 1  Symbol and/or name change 5135510 APPROVED