COL6A3 (collagen type VI alpha 3 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: COL6A3 (collagen type VI alpha 3 chain) Homo sapiens
Analyze
Symbol: COL6A3
Name: collagen type VI alpha 3 chain
RGD ID: 1318630
HGNC Page HGNC:2213
Description: Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in muscle organ development. Predicted to act upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix. Implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Biomarker of several diseases, including gastrointestinal system cancer (multiple); inflammatory bowel disease (multiple); proliferative diabetic retinopathy; thoracic aortic aneurysm; and uterine fibroid.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BTHLM1; BTHLM1C; collagen alpha-3(VI) chain; collagen type VI alpha 3; collagen VI, alpha-3 polypeptide; collagen, type VI, alpha 3; DKFZp686D23123; DKFZp686K04147; DKFZp686N0262; DYT27; FLJ34702; FLJ98399; UCMD1; UCMD1C
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
GRCh382237,324,018 - 237,414,164 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,324,003 - 237,414,328 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,232,661 - 238,322,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,897,401 - 237,987,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 342238,014,661 - 238,104,820NCBI
Celera2231,946,425 - 232,036,576 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,024,688 - 230,114,910 (-)NCBIHuRef
CHM1_12238,238,749 - 238,328,955 (-)NCBICHM1_1
T2T-CHM13v2.02237,815,093 - 237,905,193 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
bucladesine  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
CGP 52608  (EXP)
choline  (ISO)
corosolic acid  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
ferric oxide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
inulin  (ISO)
isoflavones  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
methyl methanesulfonate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
nickel sulfate  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phenytoin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sotorasib  (EXP)
streptozocin  (ISO)
sulindac  (ISO)
tamoxifen  (EXP,ISO)
temozolomide  (EXP)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
trametinib  (EXP)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal ascending aorta morphology  (IAGP)
Abnormal glomerular filtration rate  (IAGP)
Abnormal intraocular pressure  (IAGP)
Abnormal muscle fiber morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormality of the dorsal column of the spinal cord  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the vertebral column  (IAGP)
Achilles tendon contracture  (IAGP)
Action tremor  (IAGP)
Adducted thumb  (IAGP)
Ankle contracture  (IAGP)
Ankle flexion contracture  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial dystonia  (IAGP)
Axial muscle weakness  (IAGP)
Camptodactyly of finger  (IAGP)
Cigarette-paper scars  (IAGP)
Congenital contracture  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Curved toe phalanx  (IAGP)
Decreased fetal movement  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Delayed ability to walk  (IAGP)
Dental malocclusion  (IAGP)
Diaphragmatic weakness  (IAGP)
Distal joint hypermobility  (IAGP)
Distal muscle weakness  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Esotropia  (IAGP)
Flexion contracture  (IAGP)
Focal dystonia  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Gowers sign  (IAGP)
Hip contracture  (IAGP)
Hip dislocation  (IAGP)
Hip subluxation  (IAGP)
Hyperkeratosis  (IAGP)
Hypotonia  (IAGP)
Hypoventilation  (IAGP)
Inability to walk  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased laxity of fingers  (IAGP)
Increased LDL cholesterol concentration  (IAGP)
Increased muscle lipid content  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Interphalangeal joint contracture of finger  (IAGP)
Joint contracture  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Keratosis pilaris  (IAGP)
Knee contracture  (IAGP)
Knee flexion contracture  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Laryngeal dystonia  (IAGP)
Limb dystonia  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long toe  (IAGP)
Lumbar hyperlordosis  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal onset  (IAGP)
Numerous nevi  (IAGP)
Oromandibular dystonia  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Pes valgus  (IAGP)
Postural tremor  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Proximal muscle weakness  (IAGP)
Quadriceps muscle weakness  (IAGP)
Reduced maximal expiratory pressure  (IAGP)
Reduced muscle collagen VI  (IAGP)
Respiratory failure  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Sensory ataxia  (IAGP)
Short neck  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender finger  (IAGP)
Spinal rigidity  (IAGP)
Tip-toe gait  (IAGP)
Torticollis  (IAGP)
Upper limb postural tremor  (IAGP)
Uterine leiomyoma  (IAGP)
Waddling gait  (IAGP)
Wrist flexion contracture  (IAGP)
Wrist hypermobility  (IAGP)
Writer's cramp  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genomic insights in ascending aortic size and distensibility. Benjamins JW, etal., EBioMedicine. 2022 Jan;75:103783. doi: 10.1016/j.ebiom.2021.103783. Epub 2021 Dec 28.
2. Knockdown of FUT11 inhibits the progression of gastric cancer via the PI3K/AKT pathway. Cao W, etal., Heliyon. 2023 Jul 7;9(7):e17600. doi: 10.1016/j.heliyon.2023.e17600. eCollection 2023 Jul.
3. Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. Dey A, etal., Front Genet. 2013 Apr 22;4:57. doi: 10.3389/fgene.2013.00057. eCollection 2013.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders. Holm Nielsen S, etal., Sci Rep. 2020 Apr 3;10(1):5910. doi: 10.1038/s41598-020-62474-1.
6. Collagen Type VI Alpha 3 Chain Promotes Epithelial-Mesenchymal Transition in Bladder Cancer Cells via Transforming Growth Factor β (TGF-β)/Smad Pathway. Huang Y, etal., Med Sci Monit. 2018 Aug 1;24:5346-5354. doi: 10.12659/MSM.909811.
7. Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing. Liu Y, etal., Hum Mol Genet. 2022 Nov 10;31(22):3769-3776. doi: 10.1093/hmg/ddac129.
8. Identification and Analysis of Key Genes Driving Gastric Cancer Through Bioinformatics. Liu Z, etal., Genet Test Mol Biomarkers. 2021 Jan;25(1):1-11. doi: 10.1089/gtmb.2020.0126.
9. Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas. Maekawa R, etal., PLoS One. 2013 Jun 20;8(6):e66632. doi: 10.1371/journal.pone.0066632. Print 2013.
10. Exploring the Immune Infiltration Landscape and M2 Macrophage-Related Biomarkers of Proliferative Diabetic Retinopathy. Meng Z, etal., Front Endocrinol (Lausanne). 2022 May 27;13:841813. doi: 10.3389/fendo.2022.841813. eCollection 2022.
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Pan TC, etal., Hum Mol Genet. 1998 May;7(5):807-12.
13. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
14. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Identification of Missense Extracellular Matrix Gene Variants in a Large Glaucoma Pedigree and Investigation of the N700S Thrombospondin-1 Variant in Normal and Glaucomatous Trabecular Meshwork Cells. Wirtz MK, etal., Curr Eye Res. 2022 Jan;47(1):79-90. doi: 10.1080/02713683.2021.1945109. Epub 2021 Jul 6.
19. Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease. Yamada Y, etal., Int J Mol Med. 2018 Nov;42(5):2415-2436. doi: 10.3892/ijmm.2018.3852. Epub 2018 Sep 4.
20. Integrated Analysis of Multiple Microarray Studies to Identify Core Gene-Expression Signatures Involved in Tubulointerstitial Injury in Diabetic Nephropathy. Zhou H, etal., Biomed Res Int. 2022 May 10;2022:9554658. doi: 10.1155/2022/9554658. eCollection 2022.
21. Circular RNA expression profile and potential function of hsa_circRNA_101238 in human thoracic aortic dissection. Zou M, etal., Oncotarget. 2017 Jul 5;8(47):81825-81837. doi: 10.18632/oncotarget.18998. eCollection 2017 Oct 10.
Additional References at PubMed
PMID:1339440   PMID:1689238   PMID:3198591   PMID:3348212   PMID:3665927   PMID:7533217   PMID:8387021   PMID:8782832   PMID:8805527   PMID:8862926   PMID:8889548   PMID:9265624  
PMID:9516440   PMID:11785962   PMID:11992252   PMID:12011280   PMID:12077460   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15563506   PMID:15965965   PMID:16141002   PMID:16335952  
PMID:16613849   PMID:17918257   PMID:18366090   PMID:18400749   PMID:19056867   PMID:19401702   PMID:19834535   PMID:19837927   PMID:19851296   PMID:20198315   PMID:20301468   PMID:20301676  
PMID:20379614   PMID:20551380   PMID:21280222   PMID:21782286   PMID:21873635   PMID:22261194   PMID:23376485   PMID:23414517   PMID:23533145   PMID:23658023   PMID:23869615   PMID:24443028  
PMID:24647224   PMID:24719315   PMID:24769233   PMID:24801232   PMID:25037231   PMID:25204870   PMID:25337653   PMID:25449070   PMID:25635128   PMID:25798074   PMID:26004199   PMID:26338966  
PMID:26460568   PMID:26687111   PMID:26872670   PMID:27068509   PMID:27559042   PMID:27729337   PMID:28327460   PMID:28403201   PMID:28675934   PMID:29066004   PMID:29465610   PMID:29620224  
PMID:29894794   PMID:30014607   PMID:30471916   PMID:30695889   PMID:30706156   PMID:30896449   PMID:31122696   PMID:31286980   PMID:31425922   PMID:32037012   PMID:32389683   PMID:32448721  
PMID:32640306   PMID:32719005   PMID:32934754   PMID:33214660   PMID:33749658   PMID:33961781   PMID:33964895   PMID:34349018   PMID:36261009   PMID:36597993   PMID:36980840   PMID:36982625  
PMID:37495603   PMID:37938972   PMID:38334954   PMID:39125689  


Genomics

Comparative Map Data
COL6A3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382237,324,018 - 237,414,164 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2237,324,003 - 237,414,328 (-)EnsemblGRCh38hg38GRCh38
GRCh372238,232,661 - 238,322,807 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362237,897,401 - 237,987,559 (-)NCBINCBI36Build 36hg18NCBI36
Build 342238,014,661 - 238,104,820NCBI
Celera2231,946,425 - 232,036,576 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2230,024,688 - 230,114,910 (-)NCBIHuRef
CHM1_12238,238,749 - 238,328,955 (-)NCBICHM1_1
T2T-CHM13v2.02237,815,093 - 237,905,193 (-)NCBIT2T-CHM13v2.0
Col6a3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39190,694,582 - 90,771,710 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl190,693,645 - 90,771,693 (-)EnsemblGRCm39 Ensembl
GRCm38190,766,860 - 90,844,001 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl190,765,923 - 90,843,971 (-)EnsemblGRCm38mm10GRCm38
MGSCv37192,663,435 - 92,740,514 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36192,597,264 - 92,674,343 (-)NCBIMGSCv36mm8
MGSCv36191,192,168 - 91,253,776 (-)NCBIMGSCv36mm8
Celera193,712,460 - 93,789,439 (-)NCBICelera
Cytogenetic Map1DNCBI
cM Map145.53NCBI
Col6a3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8998,809,171 - 98,887,060 (-)NCBIGRCr8
mRatBN7.2991,361,578 - 91,439,434 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl991,361,583 - 91,439,471 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0997,926,784 - 98,004,643 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl997,926,787 - 98,004,546 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0997,607,496 - 97,685,349 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4989,990,129 - 90,043,697 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1990,169,794 - 90,232,286 (-)NCBI
Celera988,906,089 - 88,983,949 (-)NCBICelera
Cytogenetic Map9q36NCBI
Col6a3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555422,887,723 - 2,949,062 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555422,869,183 - 2,950,569 (+)NCBIChiLan1.0ChiLan1.0
COL6A3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213139,953,644 - 140,044,998 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B139,968,611 - 140,060,569 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B124,554,478 - 124,644,482 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B243,407,786 - 243,497,700 (-)NCBIpanpan1.1PanPan1.1panPan2
COL6A3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12547,971,439 - 48,052,673 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2547,971,315 - 48,052,402 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2548,469,819 - 48,549,745 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02548,356,794 - 48,438,226 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2548,356,805 - 48,438,297 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12548,233,582 - 48,313,731 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02548,022,112 - 48,102,355 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02548,253,810 - 48,333,969 (-)NCBIUU_Cfam_GSD_1.0
Col6a3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303189,956,267 - 190,034,205 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936525921,725 - 983,377 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936525905,419 - 983,486 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL6A3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15137,011,433 - 137,103,709 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115137,011,549 - 137,103,687 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215151,450,581 - 151,542,424 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL6A3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110123,326,337 - 123,418,836 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10123,327,102 - 123,400,114 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604075,975,426 - 76,067,621 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col6a3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248472,787,319 - 2,863,853 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248472,786,560 - 2,863,800 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL6A3
3183 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys) single nucleotide variant Bethlem myopathy 1A [RCV000548423]|not provided [RCV003144371]|not specified [RCV004586792] Chr2:237381173 [GRCh38]
Chr2:238289816 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1833C>T (p.Ala611=) single nucleotide variant Bethlem myopathy 1A [RCV000542347] Chr2:237380979 [GRCh38]
Chr2:238289622 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2161T>C (p.Ser721Pro) single nucleotide variant not provided [RCV000521987] Chr2:237378972 [GRCh38]
Chr2:238287615 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7163-44G>A single nucleotide variant COL6A3-related disorder [RCV004551935]|not provided [RCV001581926] Chr2:237344996 [GRCh38]
Chr2:238253639 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6471+263T>C single nucleotide variant not provided [RCV001581938] Chr2:237358258 [GRCh38]
Chr2:238266901 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7949A>G (p.Asp2650Gly) single nucleotide variant not provided [RCV000522283] Chr2:237340967 [GRCh38]
Chr2:238249610 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2732G>T (p.Gly911Val) single nucleotide variant not provided [RCV000520917] Chr2:237377110 [GRCh38]
Chr2:238285753 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5909G>A (p.Arg1970His) single nucleotide variant Bethlem myopathy 1A [RCV000525754] Chr2:237364358 [GRCh38]
Chr2:238273001 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8218G>C (p.Val2740Leu) single nucleotide variant not provided [RCV000521103] Chr2:237340698 [GRCh38]
Chr2:238249341 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5657G>A (p.Arg1886His) single nucleotide variant Bethlem myopathy 1A [RCV000531292]|COL6A3-related disorder [RCV004553251]|Inborn genetic diseases [RCV003352926]|not provided [RCV003144374] Chr2:237365879 [GRCh38]
Chr2:238274522 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4504G>A (p.Ala1502Thr) single nucleotide variant Bethlem myopathy 1A [RCV001297709]|Collagen 6-related myopathy [RCV001141519]|not provided [RCV000523100] Chr2:237368959 [GRCh38]
Chr2:238277602 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NC_000002.12:g.(?_237362747)_(237372158_?)del deletion Bethlem myopathy 1A [RCV000551346] Chr2:237362747..237372158 [GRCh38]
Chr2:238271390..238280801 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter) single nucleotide variant Bethlem myopathy 1A [RCV000543703]|not provided [RCV001783061] Chr2:237396742 [GRCh38]
Chr2:238305385 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5734G>A (p.Glu1912Lys) single nucleotide variant Bethlem myopathy 1A [RCV000543905]|COL6A3-related disorder [RCV004737831]|Dystonia 27 [RCV001329871]|Inborn genetic diseases [RCV002526737]|not provided [RCV000593713] Chr2:237365802 [GRCh38]
Chr2:238274445 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro) single nucleotide variant Bethlem myopathy 1A [RCV000548961] Chr2:237372292 [GRCh38]
Chr2:238280935 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7256G>C (p.Gly2419Ala) single nucleotide variant Bethlem myopathy 1A [RCV000532702]|not provided [RCV002223227] Chr2:237344762 [GRCh38]
Chr2:238253405 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu) single nucleotide variant Bethlem myopathy 1A [RCV000018689]|Bethlem myopathy 1C [RCV003764588]|not provided [RCV000790696] Chr2:237367151 [GRCh38]
Chr2:238275794 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6930+5G>A single nucleotide variant Bethlem myopathy 1A [RCV003517127]|Ullrich congenital muscular dystrophy 1A [RCV000018690]|Ullrich congenital muscular dystrophy 1C [RCV003764589] Chr2:237348608 [GRCh38]
Chr2:238257251 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter) single nucleotide variant Bethlem myopathy 1A [RCV002247356]|Ullrich congenital muscular dystrophy 1C [RCV003764590] Chr2:237381419 [GRCh38]
Chr2:238290062 [GRCh37]
Chr2:2q37.3		 pathogenic
COL6A3, IVS16DS, G-A, +1 single nucleotide variant ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT [RCV000018692]|Ullrich congenital muscular dystrophy 1, autosomal dominant [RCV000018692]|Ullrich congenital muscular dystrophy, autosomal dominant [RCV000018692] Chr2:2q37 pathogenic
NM_004369.4(COL6A3):c.6156+1_6156+2delinsTC indel Bethlem myopathy 1C [RCV003764591] Chr2:237361737..237361738 [GRCh38]
Chr2:238270380..238270381 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5177T>G (p.Leu1726Arg) single nucleotide variant Bethlem myopathy 1C [RCV003764592] Chr2:237367010 [GRCh38]
Chr2:238275653 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) single nucleotide variant Bethlem myopathy 1A [RCV001862181]|not provided [RCV000729698]|not specified [RCV002469279] Chr2:237346564 [GRCh38]
Chr2:238255207 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6966+10C>G single nucleotide variant Bethlem myopathy 1A [RCV001443396]|not provided [RCV000729931] Chr2:237348339 [GRCh38]
Chr2:238256982 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8621C>T (p.Thr2874Met) single nucleotide variant Bethlem myopathy 1A [RCV000546406]|not provided [RCV003139857] Chr2:237336479 [GRCh38]
Chr2:238245122 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3852C>A (p.Phe1284Leu) single nucleotide variant Bethlem myopathy 1A [RCV000653569]|Collagen 6-related myopathy [RCV000385431]|not provided [RCV000343308] Chr2:237372165 [GRCh38]
Chr2:238280808 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) single nucleotide variant Bethlem myopathy 1A [RCV001496603]|not provided [RCV000734326] Chr2:237378646 [GRCh38]
Chr2:238287289 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4178C>G (p.Thr1393Ser) single nucleotide variant not provided [RCV000728971] Chr2:237371839 [GRCh38]
Chr2:238280482 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) single nucleotide variant Bethlem myopathy 1A [RCV000545858] Chr2:237340968 [GRCh38]
Chr2:238249611 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4066G>A (p.Ala1356Thr) single nucleotide variant Bethlem myopathy 1A [RCV001868924]|not provided [RCV000727632] Chr2:237371951 [GRCh38]
Chr2:238280594 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.9230-4A>G single nucleotide variant Bethlem myopathy 1A [RCV002536416]|not provided [RCV000728763] Chr2:237333552 [GRCh38]
Chr2:238242195 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser) single nucleotide variant Bethlem myopathy 1A [RCV000530297]|Inborn genetic diseases [RCV004609438] Chr2:237336456 [GRCh38]
Chr2:238245099 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4110C>T (p.Ala1370=) single nucleotide variant Bethlem myopathy 1A [RCV000545876] Chr2:237371907 [GRCh38]
Chr2:238280550 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg) single nucleotide variant Bethlem myopathy 1A [RCV000549430] Chr2:237350173 [GRCh38]
Chr2:238258816 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4671C>T (p.Ser1557=) single nucleotide variant Bethlem myopathy 1A [RCV000549477]|not provided [RCV000591457] Chr2:237368792 [GRCh38]
Chr2:238277435 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) single nucleotide variant Bethlem myopathy 1A [RCV000527537] Chr2:237376884 [GRCh38]
Chr2:238285527 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9344C>T (p.Pro3115Leu) single nucleotide variant Bethlem myopathy 1A [RCV000533051]|not provided [RCV000522481] Chr2:237325709 [GRCh38]
Chr2:238234352 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) single nucleotide variant Bethlem myopathy 1A [RCV000661956]|Dystonia 27 [RCV000661957]|Inborn genetic diseases [RCV003278864]|Ullrich congenital muscular dystrophy 1A [RCV000661955]|not provided [RCV000727405]|not specified [RCV004701595] Chr2:237374871 [GRCh38]
Chr2:238283514 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8337C>A (p.Asn2779Lys) single nucleotide variant not provided [RCV000519374] Chr2:237340579 [GRCh38]
Chr2:238249222 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6451G>C (p.Val2151Leu) single nucleotide variant Bethlem myopathy 1A [RCV000812792]|COL6A3-related disorder [RCV004553145]|not provided [RCV000728295] Chr2:237358541 [GRCh38]
Chr2:238267184 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2517G>A (p.Leu839=) single nucleotide variant Bethlem myopathy 1A [RCV002527930] Chr2:237377325 [GRCh38]
Chr2:238285968 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7475C>T (p.Ser2492Leu) single nucleotide variant Bethlem myopathy 1A [RCV000528355] Chr2:237344543 [GRCh38]
Chr2:238253186 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7107C>T (p.Asn2369=) single nucleotide variant Bethlem myopathy 1A [RCV000531879] Chr2:237345199 [GRCh38]
Chr2:238253842 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) single nucleotide variant Bethlem myopathy 1A [RCV000546203]|Bethlem myopathy 1A [RCV000765643]|not provided [RCV000727675] Chr2:237369154 [GRCh38]
Chr2:238277797 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser) single nucleotide variant Bethlem myopathy 1A [RCV001853072]|not provided [RCV000050245] Chr2:237361138 [GRCh38]
Chr2:238269781 [GRCh37]
Chr2:2q37.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:236043791-237379158)x3 copy number gain See cases [RCV000051126] Chr2:236043791..237379158 [GRCh38]
Chr2:236952435..238287801 [GRCh37]
Chr2:236617174..237952540 [NCBI36]
Chr2:2q37.2-37.3		 uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.5574C>T (p.Phe1858=) single nucleotide variant Bethlem myopathy 1A [RCV001870260] Chr2:237365962 [GRCh38]
Chr2:238274605 [GRCh37]
Chr2:237939344 [NCBI36]
Chr2:2q37.3		 likely benign|not provided
NM_004369.3(COL6A3):c.6673G>A (p.Gly2225Arg) single nucleotide variant Malignant melanoma [RCV000060527] Chr2:237353358 [GRCh38]
Chr2:238262001 [GRCh37]
Chr2:237926740 [NCBI36]
Chr2:2q37.3		 not provided
NM_004369.3(COL6A3):c.1936G>A (p.Gly646Arg) single nucleotide variant Malignant melanoma [RCV000060528] Chr2:237379197 [GRCh38]
Chr2:238287840 [GRCh37]
Chr2:237952579 [NCBI36]
Chr2:2q37.3		 not provided
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) single nucleotide variant Bethlem myopathy 1A [RCV000662166]|Dystonia 27 [RCV000662167]|Ullrich congenital muscular dystrophy 1A [RCV000662165] Chr2:237378897 [GRCh38]
Chr2:238287540 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3680-5C>T single nucleotide variant Bethlem myopathy 1A [RCV001084876]|not provided [RCV000724221]|not specified [RCV000116796] Chr2:237372342 [GRCh38]
Chr2:238280985 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.*7G>C single nucleotide variant Collagen 6-related myopathy [RCV000372374]|not provided [RCV004709228]|not specified [RCV000080905] Chr2:237324767 [GRCh38]
Chr2:238233410 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1024G>A (p.Val342Met) single nucleotide variant Bethlem myopathy 1A [RCV000548734]|COL6A3-related disorder [RCV004549504]|Collagen 6-related myopathy [RCV000391365]|not provided [RCV001200649]|not specified [RCV000080906] Chr2:237387870 [GRCh38]
Chr2:238296513 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) single nucleotide variant Bethlem myopathy 1A [RCV000539245]|Bethlem myopathy 1A [RCV002490705]|COL6A3-related disorder [RCV004549505]|Collagen 6-related myopathy [RCV000385251]|not provided [RCV002262621]|not specified [RCV000080907] Chr2:237387712 [GRCh38]
Chr2:238296355 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) single nucleotide variant Bethlem myopathy 1A [RCV001083886]|Collagen 6-related myopathy [RCV000334177]|not provided [RCV000658903]|not specified [RCV000080908] Chr2:237387663 [GRCh38]
Chr2:238296306 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) single nucleotide variant Bethlem myopathy 1A [RCV000544484]|COL6A3-related disorder [RCV004549506]|Collagen 6-related myopathy [RCV000373285]|Dystonia 27 [RCV002295281]|not specified [RCV000080909] Chr2:237387630 [GRCh38]
Chr2:238296273 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1313-17A>G single nucleotide variant Bethlem myopathy 1A [RCV002055182]|not provided [RCV004710482]|not specified [RCV000080910] Chr2:237381516 [GRCh38]
Chr2:238290159 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) single nucleotide variant Bethlem myopathy 1A [RCV000556953]|Collagen 6-related myopathy [RCV000263383]|not provided [RCV000991645]|not specified [RCV000080911] Chr2:237381423 [GRCh38]
Chr2:238290066 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) single nucleotide variant Bethlem myopathy 1A [RCV000537530]|Collagen 6-related myopathy [RCV000358271]|not provided [RCV001572856]|not specified [RCV000080912] Chr2:237381341 [GRCh38]
Chr2:238289984 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) single nucleotide variant Bethlem myopathy 1A [RCV000545188]|Collagen 6-related myopathy [RCV000303469]|not provided [RCV001573194]|not specified [RCV000080913] Chr2:237381337 [GRCh38]
Chr2:238289980 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1638C>T (p.Ala546=) single nucleotide variant Bethlem myopathy 1A [RCV001080101]|Collagen 6-related myopathy [RCV000408041]|not provided [RCV000828483]|not specified [RCV000080914] Chr2:237381174 [GRCh38]
Chr2:238289817 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) single nucleotide variant Bethlem myopathy 1A [RCV001080317]|COL6A3-related disorder [RCV004549507]|Collagen 6-related myopathy [RCV000349518]|not provided [RCV000585455]|not specified [RCV000080915] Chr2:237381124 [GRCh38]
Chr2:238289767 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) single nucleotide variant Bethlem myopathy 1A [RCV000319162]|Dystonia 27 [RCV000714578]|Ullrich congenital muscular dystrophy 1A [RCV000280500]|not provided [RCV000080916] Chr2:237395121 [GRCh38]
Chr2:238303764 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) single nucleotide variant Bethlem myopathy 1A [RCV001082486]|Collagen 6-related myopathy [RCV000334755]|not provided [RCV000224262]|not specified [RCV000080917] Chr2:237381026 [GRCh38]
Chr2:238289669 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.1914G>A (p.Arg638=) single nucleotide variant Bethlem myopathy 1A [RCV001083783]|Collagen 6-related myopathy [RCV000374252]|not provided [RCV000710903]|not specified [RCV000080918] Chr2:237379219 [GRCh38]
Chr2:238287862 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) single nucleotide variant Bethlem myopathy 1A [RCV001083784]|Collagen 6-related myopathy [RCV000283036]|not provided [RCV000710904]|not specified [RCV000080919] Chr2:237379157 [GRCh38]
Chr2:238287800 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) single nucleotide variant Bethlem myopathy 1A [RCV000560009]|Collagen 6-related myopathy [RCV000297693]|not provided [RCV000710906]|not specified [RCV000080920] Chr2:237378714 [GRCh38]
Chr2:238287357 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) single nucleotide variant Bethlem myopathy 1A [RCV000557238]|Collagen 6-related myopathy [RCV000336823]|not provided [RCV000710907]|not specified [RCV000080921] Chr2:237378645 [GRCh38]
Chr2:238287288 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) single nucleotide variant Bethlem myopathy 1A [RCV000551036]|COL6A3-related disorder [RCV004549508]|Collagen 6-related myopathy [RCV000285207]|not provided [RCV004710483]|not specified [RCV000080922] Chr2:237376788 [GRCh38]
Chr2:238285431 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.3071-16G>A single nucleotide variant Bethlem myopathy 1A [RCV002055183]|Bethlem myopathy 1A [RCV002490706]|not provided [RCV001795129]|not specified [RCV000080923] Chr2:237375036 [GRCh38]
Chr2:238283679 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) single nucleotide variant Bethlem myopathy 1A [RCV001085179]|COL6A3-related disorder [RCV004549509]|Collagen 6-related myopathy [RCV000379631]|not provided [RCV000416212]|not specified [RCV000080924] Chr2:237375004 [GRCh38]
Chr2:238283647 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) single nucleotide variant Bethlem myopathy 1A [RCV000532769]|COL6A3-related disorder [RCV004549510]|Collagen 6-related myopathy [RCV001139120]|not provided [RCV001573085]|not specified [RCV000080925] Chr2:237375003 [GRCh38]
Chr2:238283646 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=) single nucleotide variant Bethlem myopathy 1A [RCV001519902]|Collagen 6-related myopathy [RCV000289678]|Dystonia 27 [RCV001664358]|Ullrich congenital muscular dystrophy 1A [RCV001664357]|not provided [RCV004707922]|not specified [RCV000080926] Chr2:237374962 [GRCh38]
Chr2:238283605 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) single nucleotide variant Bethlem myopathy 1A [RCV000553968]|Collagen 6-related myopathy [RCV000329486]|Ullrich congenital muscular dystrophy 1A [RCV001258268]|not provided [RCV004710484]|not specified [RCV000193752] Chr2:237374900 [GRCh38]
Chr2:238283543 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3223C>A (p.Arg1075=) single nucleotide variant Bethlem myopathy 1A [RCV003631090]|not provided [RCV000080928] Chr2:237374868 [GRCh38]
Chr2:238283511 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) single nucleotide variant Bethlem myopathy 1A [RCV000529957]|Collagen 6-related myopathy [RCV000333047]|not provided [RCV000710908]|not specified [RCV000080929] Chr2:237374829 [GRCh38]
Chr2:238283472 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) single nucleotide variant Bethlem myopathy 1A [RCV000543347]|COL6A3-related disorder [RCV004549511]|Collagen 6-related myopathy [RCV000302215]|not provided [RCV004710485]|not specified [RCV000080930] Chr2:237374671 [GRCh38]
Chr2:238283314 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) single nucleotide variant Bethlem myopathy 1A [RCV001086342]|not provided [RCV000723511]|not specified [RCV000254019] Chr2:237372063 [GRCh38]
Chr2:238280706 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) single nucleotide variant Bethlem myopathy 1A [RCV000556151]|not provided [RCV004710486]|not specified [RCV000080932] Chr2:237371927 [GRCh38]
Chr2:238280570 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) single nucleotide variant Bethlem myopathy 1A [RCV000552548]|Collagen 6-related myopathy [RCV000319554]|not provided [RCV001531521]|not specified [RCV000080933] Chr2:237371910 [GRCh38]
Chr2:238280553 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) single nucleotide variant Bethlem myopathy 1A [RCV001079176]|Bethlem myopathy 1A [RCV002483144]|Collagen 6-related myopathy [RCV000362566]|Dystonia 27 [RCV002298466]|not provided [RCV000417628]|not specified [RCV000080934] Chr2:237371833 [GRCh38]
Chr2:238280476 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_004369.4(COL6A3):c.421G>A (p.Gly141Arg) single nucleotide variant Bethlem myopathy 1A [RCV003764762]|not provided [RCV000080935] Chr2:237394875 [GRCh38]
Chr2:238303518 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4285+17G>A single nucleotide variant Bethlem myopathy 1A [RCV002055184]|Bethlem myopathy 1A [RCV002498421]|not provided [RCV001795130]|not specified [RCV000080936] Chr2:237371715 [GRCh38]
Chr2:238280358 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4285+9G>A single nucleotide variant Bethlem myopathy 1A [RCV000533723]|COL6A3-related disorder [RCV004549512]|Collagen 6-related myopathy [RCV000307885]|not provided [RCV000224824]|not specified [RCV000080937] Chr2:237371723 [GRCh38]
Chr2:238280366 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.4311T>C (p.Ile1437=) single nucleotide variant Bethlem myopathy 1A [RCV001519901]|Collagen 6-related myopathy [RCV000405778]|Dystonia 27 [RCV001664360]|Ullrich congenital muscular dystrophy 1A [RCV001664359]|not provided [RCV004709229]|not specified [RCV000080938] Chr2:237369152 [GRCh38]
Chr2:238277795 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4399A>G (p.Asn1467Asp) single nucleotide variant Bethlem myopathy 1A [RCV001082187]|COL6A3-related disorder [RCV004737192]|Collagen 6-related myopathy [RCV001143351]|not provided [RCV000558864]|not specified [RCV000080939] Chr2:237369064 [GRCh38]
Chr2:238277707 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) single nucleotide variant Bethlem myopathy 1A [RCV001079752]|Collagen 6-related myopathy [RCV000347648]|not provided [RCV000723676]|not specified [RCV000242148] Chr2:237368960 [GRCh38]
Chr2:238277603 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4533G>T (p.Gly1511=) single nucleotide variant Bethlem myopathy 1A [RCV001519900]|Collagen 6-related myopathy [RCV000311595]|Dystonia 27 [RCV001664362]|Ullrich congenital muscular dystrophy 1A [RCV001664361]|not provided [RCV004707923]|not specified [RCV000080941] Chr2:237368930 [GRCh38]
Chr2:238277573 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) single nucleotide variant Bethlem myopathy 1A [RCV000554935]|Collagen 6-related myopathy [RCV000404373]|not provided [RCV001711239]|not specified [RCV000080942] Chr2:237368780 [GRCh38]
Chr2:238277423 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) single nucleotide variant Bethlem myopathy 1A [RCV000554445]|Bethlem myopathy 1A [RCV000576440]|Collagen 6-related myopathy [RCV000351295]|not provided [RCV001573719]|not specified [RCV000080943] Chr2:237368736 [GRCh38]
Chr2:238277379 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) single nucleotide variant Bethlem myopathy 1A [RCV002055185]|COL6A3-related disorder [RCV004549513]|not provided [RCV000080944] Chr2:237368615 [GRCh38]
Chr2:238277258 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met) single nucleotide variant Bethlem myopathy 1A [RCV001235282]|not provided [RCV000080945] Chr2:237368590 [GRCh38]
Chr2:238277233 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) single nucleotide variant Bethlem myopathy 1A [RCV000531394]|Bethlem myopathy 1A [RCV002490707]|Collagen 6-related myopathy [RCV000296401]|not provided [RCV001573622]|not specified [RCV000080946] Chr2:237368568 [GRCh38]
Chr2:238277211 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.5059C>T (p.Pro1687Ser) single nucleotide variant Bethlem myopathy 1A [RCV000545987]|Bethlem myopathy 1A [RCV002498422]|Collagen 6-related myopathy [RCV000385545]|not provided [RCV001703998]|not specified [RCV000080947] Chr2:237367128 [GRCh38]
Chr2:238275771 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) single nucleotide variant Bethlem myopathy 1A [RCV000534715]|Collagen 6-related myopathy [RCV000328532]|not provided [RCV004707924]|not specified [RCV000080948] Chr2:237367087 [GRCh38]
Chr2:238275730 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.5170G>A (p.Glu1724Lys) single nucleotide variant not provided [RCV000080949] Chr2:237367017 [GRCh38]
Chr2:238275660 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) single nucleotide variant Bethlem myopathy 1A [RCV000987065]|Collagen 6-related myopathy [RCV000324898]|not provided [RCV000514217]|not specified [RCV000080950] Chr2:237366926 [GRCh38]
Chr2:238275569 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.5418C>T (p.Ser1806=) single nucleotide variant Bethlem myopathy 1A [RCV001464406]|not provided [RCV000080951] Chr2:237366769 [GRCh38]
Chr2:238275412 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) single nucleotide variant Bethlem myopathy 1A [RCV001082869]|COL6A3-related disorder [RCV004549514]|Collagen 6-related myopathy [RCV000359943]|Inborn genetic diseases [RCV004019559]|Tip-toe gait [RCV001548748]|not provided [RCV000080952]|not specified [RCV000259065] Chr2:237365926 [GRCh38]
Chr2:238274569 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5750T>C (p.Met1917Thr) single nucleotide variant not provided [RCV000080953] Chr2:237365786 [GRCh38]
Chr2:238274429 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5917+28G>C single nucleotide variant not provided [RCV001664363]|not specified [RCV000080954] Chr2:237364322 [GRCh38]
Chr2:238272965 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6063+13dup duplication Bethlem myopathy 1A [RCV002055186]|Collagen 6-related myopathy [RCV000406783]|not provided [RCV001711371]|not specified [RCV000080955] Chr2:237363239..237363240 [GRCh38]
Chr2:238271882..238271883 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) single nucleotide variant Bethlem myopathy 1A [RCV001089100]|not provided [RCV000723664] Chr2:237361757 [GRCh38]
Chr2:238270400 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6156+4C>T single nucleotide variant Bethlem myopathy 1A [RCV000533568]|Collagen 6-related myopathy [RCV000288171]|not provided [RCV002262622]|not specified [RCV000080957] Chr2:237361735 [GRCh38]
Chr2:238270378 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.6156+5G>A single nucleotide variant Bethlem myopathy 1A [RCV003764763]|not provided [RCV000723499]|not specified [RCV000080958] Chr2:237361734 [GRCh38]
Chr2:238270377 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn) single nucleotide variant Bethlem myopathy 1A [RCV001055334]|not provided [RCV000723513] Chr2:237361739 [GRCh38]
Chr2:238270382 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.6157-16G>A single nucleotide variant Bethlem myopathy 1A [RCV002055187]|not provided [RCV001795131]|not specified [RCV000080960] Chr2:237361190 [GRCh38]
Chr2:238269833 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6210+1G>A single nucleotide variant Bethlem myopathy 1A [RCV000817699]|Ullrich congenital muscular dystrophy 1A [RCV000175056]|Ullrich congenital muscular dystrophy 1C [RCV003764764]|not provided [RCV000080961] Chr2:237361120 [GRCh38]
Chr2:238269763 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6211-3C>T single nucleotide variant Bethlem myopathy 1A [RCV000553676]|COL6A3-related disorder [RCV004549515]|Collagen 6-related myopathy [RCV000284810]|not provided [RCV003884346]|not specified [RCV000080962] Chr2:237360162 [GRCh38]
Chr2:238268805 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6211-4A>G single nucleotide variant Bethlem myopathy 1A [RCV000812112]|not provided [RCV000080963] Chr2:237360163 [GRCh38]
Chr2:238268806 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282+1G>A single nucleotide variant Bethlem myopathy 1A [RCV001854427]|Ullrich congenital muscular dystrophy 1A [RCV001775079]|not provided [RCV000080964] Chr2:237360087 [GRCh38]
Chr2:238268730 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6282+50C>T single nucleotide variant not provided [RCV001668200]|not specified [RCV000080965] Chr2:237360038 [GRCh38]
Chr2:238268681 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6309+40C>T single nucleotide variant not provided [RCV000080966] Chr2:237359322 [GRCh38]
Chr2:238267965 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6369G>A (p.Leu2123=) single nucleotide variant Bethlem myopathy 1A [RCV000576568]|Bethlem myopathy 1A [RCV001519899]|Collagen 6-related myopathy [RCV000376283]|Dystonia 27 [RCV001664365]|Ullrich congenital muscular dystrophy 1A [RCV001664364]|not provided [RCV004709230]|not specified [RCV000080967] Chr2:237359074 [GRCh38]
Chr2:238267717 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6408+44A>G single nucleotide variant not provided [RCV001571090]|not specified [RCV000080968] Chr2:237358991 [GRCh38]
Chr2:238267634 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.6592-27del deletion not provided [RCV000828573]|not specified [RCV000080969] Chr2:237354961 [GRCh38]
Chr2:238263604 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6622G>T (p.Ala2208Ser) single nucleotide variant Bethlem myopathy 1A [RCV002514420]|not provided [RCV000080970] Chr2:237354904 [GRCh38]
Chr2:238263547 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6628-47G>C single nucleotide variant not provided [RCV000080971] Chr2:237353450 [GRCh38]
Chr2:238262093 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) single nucleotide variant Bethlem myopathy 1A [RCV000560037]|Bethlem myopathy 1A [RCV000576771]|Collagen 6-related myopathy [RCV000261711]|not provided [RCV001699035]|not specified [RCV000080972] Chr2:237353378 [GRCh38]
Chr2:238262021 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6855G>C (p.Gly2285=) single nucleotide variant Bethlem myopathy 1A [RCV000576370]|Bethlem myopathy 1A [RCV001519898]|Collagen 6-related myopathy [RCV000276863]|Dystonia 27 [RCV001664367]|Ullrich congenital muscular dystrophy 1A [RCV001664366]|not provided [RCV004707925]|not specified [RCV000080973] Chr2:237350171 [GRCh38]
Chr2:238258814 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) single nucleotide variant Bethlem myopathy 1A [RCV000757920]|not provided [RCV000080974] Chr2:237350157 [GRCh38]
Chr2:238258800 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.686C>T (p.Thr229Met) single nucleotide variant Bethlem myopathy 1A [RCV000525553]|not provided [RCV000080975] Chr2:237394610 [GRCh38]
Chr2:238303253 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6879+49G>A single nucleotide variant not provided [RCV000080976] Chr2:237350098 [GRCh38]
Chr2:238258741 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6880-47T>C single nucleotide variant not provided [RCV000838882]|not specified [RCV000080977] Chr2:237348710 [GRCh38]
Chr2:238257353 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6930+28C>T single nucleotide variant not provided [RCV001668201]|not specified [RCV000080978] Chr2:237348585 [GRCh38]
Chr2:238257228 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6930+43G>C single nucleotide variant not provided [RCV001610370]|not specified [RCV000080979] Chr2:237348570 [GRCh38]
Chr2:238257213 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) single nucleotide variant Bethlem myopathy 1A [RCV000576649]|Bethlem myopathy 1A [RCV001520954]|Collagen 6-related myopathy [RCV000365938]|not provided [RCV004707926]|not specified [RCV000080980] Chr2:237348370 [GRCh38]
Chr2:238257013 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.6972C>T (p.Asn2324=) single nucleotide variant Bethlem myopathy 1A [RCV000526326]|Collagen 6-related myopathy [RCV000308898]|not provided [RCV001711190]|not specified [RCV000080981] Chr2:237347864 [GRCh38]
Chr2:238256507 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) single nucleotide variant Bethlem myopathy 1A [RCV000538887]|Bethlem myopathy 1A [RCV000576838]|Collagen 6-related myopathy [RCV000405134]|not provided [RCV001795132]|not specified [RCV000080982] Chr2:237347855 [GRCh38]
Chr2:238256498 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) single nucleotide variant Bethlem myopathy 1A [RCV000538533]|Bethlem myopathy 1A [RCV000576383]|Collagen 6-related myopathy [RCV000392872]|not provided [RCV001795133]|not specified [RCV000080983] Chr2:237346509 [GRCh38]
Chr2:238255152 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.7092+26G>A single nucleotide variant Bethlem myopathy 1A [RCV001664368]|Dystonia 27 [RCV001664370]|Ullrich congenital muscular dystrophy 1A [RCV001664369]|not provided [RCV000838885]|not specified [RCV000080984] Chr2:237346477 [GRCh38]
Chr2:238255120 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7162+48G>A single nucleotide variant not provided [RCV001588906]|not specified [RCV000080985] Chr2:237345010 [GRCh38]
Chr2:238253653 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.7174+4A>C single nucleotide variant not provided [RCV000080986] Chr2:237344937 [GRCh38]
Chr2:238253580 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7175-32G>A single nucleotide variant not provided [RCV000837098]|not specified [RCV000080987] Chr2:237344875 [GRCh38]
Chr2:238253518 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) single nucleotide variant Bethlem myopathy 1A [RCV000987061]|Collagen 6-related myopathy [RCV000282178]|Tip-toe gait [RCV002051806]|not provided [RCV000657932] Chr2:237344760 [GRCh38]
Chr2:238253403 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) single nucleotide variant Bethlem myopathy 1A [RCV000534612]|Collagen 6-related myopathy [RCV000369989]|Inborn genetic diseases [RCV002514421]|not provided [RCV001707522]|not specified [RCV000080989] Chr2:237388164 [GRCh38]
Chr2:238296807 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) single nucleotide variant Bethlem myopathy 1A [RCV000547231]|Bethlem myopathy 1A [RCV000576593]|Collagen 6-related myopathy [RCV000317444]|not provided [RCV001795134]|not specified [RCV000080990] Chr2:237344689 [GRCh38]
Chr2:238253332 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) single nucleotide variant Bethlem myopathy 1A [RCV000548028]|COL6A3-related disorder [RCV004549516]|Inborn genetic diseases [RCV004019560]|not provided [RCV004710487]|not specified [RCV000080991] Chr2:237344618 [GRCh38]
Chr2:238253261 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp) single nucleotide variant Bethlem myopathy 1A [RCV001854428]|not provided [RCV000080992] Chr2:237396744 [GRCh38]
Chr2:238305387 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) single nucleotide variant Bethlem myopathy 1A [RCV000540941]|Bethlem myopathy 1A [RCV000576861]|Collagen 6-related myopathy [RCV000332276]|not provided [RCV001573708]|not specified [RCV000080993] Chr2:237344509 [GRCh38]
Chr2:238253152 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) single nucleotide variant Bethlem myopathy 1A [RCV000576476]|Bethlem myopathy 1A [RCV001520953]|Collagen 6-related myopathy [RCV000274813]|not provided [RCV001539733]|not specified [RCV000080994] Chr2:237344506 [GRCh38]
Chr2:238253149 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.7596G>A (p.Lys2532=) single nucleotide variant Bethlem myopathy 1A [RCV000576689]|Bethlem myopathy 1A [RCV001513777]|Collagen 6-related myopathy [RCV000367078]|not provided [RCV004709231]|not specified [RCV000080995] Chr2:237344422 [GRCh38]
Chr2:238253065 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7645C>T (p.Arg2549Trp) single nucleotide variant Bethlem myopathy 1A [RCV000554357]|Bethlem myopathy 1A [RCV002477231]|COL6A3-related disorder [RCV004549517]|Collagen 6-related myopathy [RCV000271271]|not specified [RCV000080996] Chr2:237344373 [GRCh38]
Chr2:238253016 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7668+21G>C single nucleotide variant not provided [RCV000839208]|not specified [RCV000080997] Chr2:237344329 [GRCh38]
Chr2:238252972 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.7669-35C>T single nucleotide variant not provided [RCV000841642]|not specified [RCV000080998] Chr2:237342196 [GRCh38]
Chr2:238250839 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7685T>C (p.Val2562Ala) single nucleotide variant Bethlem myopathy 1A [RCV000813495]|Collagen 6-related myopathy [RCV000306466]|not provided [RCV000723496] Chr2:237342145 [GRCh38]
Chr2:238250788 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.768C>T (p.Val256=) single nucleotide variant Bethlem myopathy 1A [RCV000531081]|Collagen 6-related myopathy [RCV000260167]|not provided [RCV004707927]|not specified [RCV000081000] Chr2:237388126 [GRCh38]
Chr2:238296769 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.7779C>T (p.Ile2593=) single nucleotide variant Bethlem myopathy 1A [RCV000532449]|Collagen 6-related myopathy [RCV000302785]|not provided [RCV004710488]|not specified [RCV000081001] Chr2:237341137 [GRCh38]
Chr2:238249780 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) single nucleotide variant Bethlem myopathy 1A [RCV000576864]|Bethlem myopathy 1A [RCV001517169]|Collagen 6-related myopathy [RCV000405566]|not provided [RCV004709232]|not specified [RCV000081002] Chr2:237341074 [GRCh38]
Chr2:238249717 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.7929G>A (p.Ala2643=) single nucleotide variant Bethlem myopathy 1A [RCV001517168]|Collagen 6-related myopathy [RCV000300148]|Dystonia 27 [RCV001664372]|Ullrich congenital muscular dystrophy 1A [RCV001664371]|not provided [RCV004707928]|not specified [RCV000081003] Chr2:237340987 [GRCh38]
Chr2:237340987..237340988 [GRCh38]
Chr2:238249630 [GRCh37]
Chr2:238249630..238249631 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) single nucleotide variant Bethlem myopathy 1A [RCV000556692]|Collagen 6-related myopathy [RCV000405871]|not provided [RCV001795135]|not specified [RCV000081004] Chr2:237340921 [GRCh38]
Chr2:238249564 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.8008G>A (p.Ala2670Thr) single nucleotide variant Bethlem myopathy 1A [RCV001324707]|Inborn genetic diseases [RCV002514422]|not provided [RCV000081005] Chr2:237340908 [GRCh38]
Chr2:238249551 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) single nucleotide variant Bethlem myopathy 1A [RCV000558044]|Collagen 6-related myopathy [RCV000296731]|not specified [RCV000081006] Chr2:237340906 [GRCh38]
Chr2:238249549 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) single nucleotide variant Bethlem myopathy 1A [RCV000533664]|Collagen 6-related myopathy [RCV000384723]|not provided [RCV001795136]|not specified [RCV000081007] Chr2:237340771 [GRCh38]
Chr2:238249414 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) single nucleotide variant Bethlem myopathy 1A [RCV001517167]|Collagen 6-related myopathy [RCV000261782]|not provided [RCV000710912]|not specified [RCV000081008] Chr2:237340465 [GRCh38]
Chr2:238249108 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.8464+20G>C single nucleotide variant Bethlem myopathy 1A [RCV002055188]|not provided [RCV000081009] Chr2:237340432 [GRCh38]
Chr2:238249075 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8465-34C>T single nucleotide variant not provided [RCV004709233]|not specified [RCV000081010] Chr2:237339151 [GRCh38]
Chr2:238247794 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8491G>C (p.Asp2831His) single nucleotide variant Bethlem myopathy 1A [RCV001514704]|Collagen 6-related myopathy [RCV000297122]|not provided [RCV000710913]|not specified [RCV000081011] Chr2:237339091 [GRCh38]
Chr2:238247734 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.862G>A (p.Asp288Asn) single nucleotide variant Bethlem myopathy 1A [RCV000653661]|Collagen 6-related myopathy [RCV001141966]|not provided [RCV000081012]|not specified [RCV001818246] Chr2:237388032 [GRCh38]
Chr2:238296675 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8780T>C (p.Met2927Thr) single nucleotide variant Bethlem myopathy 1A [RCV001516616]|Collagen 6-related myopathy [RCV000382239]|Dystonia 27 [RCV001664374]|Ullrich congenital muscular dystrophy 1A [RCV001664373]|not provided [RCV004709234]|not specified [RCV000081013] Chr2:237336320 [GRCh38]
Chr2:238244963 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) single nucleotide variant Bethlem myopathy 1A [RCV001517166]|Collagen 6-related myopathy [RCV000378826]|not provided [RCV000710914]|not specified [RCV000081014] Chr2:237336280 [GRCh38]
Chr2:238244923 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) single nucleotide variant Bethlem myopathy 1A [RCV000537796]|Collagen 6-related myopathy [RCV000321850]|not provided [RCV001795137]|not specified [RCV000081015] Chr2:237336278 [GRCh38]
Chr2:238244921 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) single nucleotide variant Bethlem myopathy 1A [RCV001081017]|Collagen 6-related myopathy [RCV000340095]|not provided [RCV000710915]|not specified [RCV000081016] Chr2:237388012 [GRCh38]
Chr2:238296655 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.8868TGC[3] (p.Ala2960del) microsatellite Bethlem myopathy 1A [RCV001517165]|Collagen 6-related myopathy [RCV000264490]|not provided [RCV000710916]|not specified [RCV000081017] Chr2:237336221..237336223 [GRCh38]
Chr2:238244864..238244866 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) single nucleotide variant Bethlem myopathy 1A [RCV001517164]|Collagen 6-related myopathy [RCV000375437]|not provided [RCV000710917]|not specified [RCV000081018] Chr2:237336138 [GRCh38]
Chr2:238244781 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.9034G>C (p.Ala3012Pro) single nucleotide variant Bethlem myopathy 1A [RCV001516615]|Collagen 6-related myopathy [RCV000261014]|Dystonia 27 [RCV001664376]|Ullrich congenital muscular dystrophy 1A [RCV001664375]|not provided [RCV004707929]|not specified [RCV000081019] Chr2:237334821 [GRCh38]
Chr2:238243464 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9069C>T (p.Thr3023=) single nucleotide variant Bethlem myopathy 1A [RCV001086899]|Collagen 6-related myopathy [RCV000354521]|not provided [RCV000555527]|not specified [RCV000081020] Chr2:237334786 [GRCh38]
Chr2:238243429 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) single nucleotide variant Bethlem myopathy 1A [RCV000539443]|Collagen 6-related myopathy [RCV000332346]|not provided [RCV000710918]|not specified [RCV000081021] Chr2:237334732 [GRCh38]
Chr2:238243375 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) single nucleotide variant Bethlem myopathy 1A [RCV000551930]|Collagen 6-related myopathy [RCV000367175]|not provided [RCV000710919]|not specified [RCV000081022] Chr2:237334726 [GRCh38]
Chr2:238243369 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9206C>T (p.Thr3069Ile) single nucleotide variant Bethlem myopathy 1A [RCV001516614]|Collagen 6-related myopathy [RCV000365788]|Dystonia 27 [RCV001664378]|Ullrich congenital muscular dystrophy 1A [RCV001664377]|not provided [RCV004707930]|not specified [RCV000081023] Chr2:237334649 [GRCh38]
Chr2:238243292 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) single nucleotide variant Bethlem myopathy 1A [RCV001520952]|Collagen 6-related myopathy [RCV000306390]|not provided [RCV004707931]|not specified [RCV000081024] Chr2:237334642 [GRCh38]
Chr2:238243285 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_004369.4(COL6A3):c.9329-33C>T single nucleotide variant not provided [RCV000723448]|not specified [RCV000246392] Chr2:237325757 [GRCh38]
Chr2:238234400 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) single nucleotide variant Bethlem myopathy 1A [RCV000529429]|Collagen 6-related myopathy [RCV000404714]|not provided [RCV000991646]|not specified [RCV000081026] Chr2:237325642 [GRCh38]
Chr2:238234285 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.9494-26C>T single nucleotide variant not provided [RCV000838886]|not specified [RCV000081027] Chr2:237324840 [GRCh38]
Chr2:238233483 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) single nucleotide variant Bethlem myopathy 1A [RCV001083188]|COL6A3-related disorder [RCV004549580]|Tip-toe gait [RCV002222398]|not provided [RCV000116795]|not specified [RCV000243539] Chr2:237381199 [GRCh38]
Chr2:238289842 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) single nucleotide variant Bethlem myopathy 1A [RCV000525877]|not provided [RCV004710503]|not specified [RCV000116797] Chr2:237372012 [GRCh38]
Chr2:238280655 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) single nucleotide variant Bethlem myopathy 1A [RCV001081946]|COL6A3-related disorder [RCV004549581]|Collagen 6-related myopathy [RCV000304466]|Tip-toe gait [RCV001358668]|not provided [RCV000224823]|not specified [RCV000180594] Chr2:237371861 [GRCh38]
Chr2:238280504 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) single nucleotide variant Bethlem myopathy 1A [RCV000527660]|not specified [RCV000116799] Chr2:237361790 [GRCh38]
Chr2:238270433 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) single nucleotide variant Bethlem myopathy 1A [RCV000537754]|Bethlem myopathy 1A [RCV000576480]|Collagen 6-related myopathy [RCV000338782]|not provided [RCV001729390]|not specified [RCV000116800] Chr2:237340988 [GRCh38]
Chr2:238249631 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) single nucleotide variant Bethlem myopathy 1A [RCV000515400]|Bethlem myopathy 1A [RCV000550052]|COL6A3-related disorder [RCV004549582]|not provided [RCV000116801]|not specified [RCV004586552] Chr2:237340907 [GRCh38]
Chr2:238249550 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) single nucleotide variant Bethlem myopathy 1A [RCV000542615]|Collagen 6-related myopathy [RCV000397182]|not provided [RCV004710504]|not specified [RCV000178440] Chr2:237336528 [GRCh38]
Chr2:238245171 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.9303A>G (p.Thr3101=) single nucleotide variant Bethlem myopathy 1A [RCV002104291] Chr2:237333475 [GRCh38]
Chr2:238242118 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.710-20dup duplication Bethlem myopathy 1A [RCV002063920]|not specified [RCV000603091] Chr2:237388203..237388204 [GRCh38]
Chr2:238296846..238296847 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) single nucleotide variant Bethlem myopathy 1A [RCV000175185]|not provided [RCV000724747] Chr2:237360131 [GRCh38]
Chr2:238268774 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) single nucleotide variant Bethlem myopathy 1A [RCV002516670]|not provided [RCV000175313] Chr2:237359378 [GRCh38]
Chr2:238268021 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) single nucleotide variant Bethlem myopathy 1A [RCV001243937]|not provided [RCV000171340] Chr2:237378831 [GRCh38]
Chr2:238287474 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.6283-2A>C single nucleotide variant Bethlem myopathy 1A [RCV000190463] Chr2:237359390 [GRCh38]
Chr2:238268033 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter) single nucleotide variant Bethlem myopathy 1A [RCV001331208] Chr2:237340941 [GRCh38]
Chr2:238249584 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) single nucleotide variant Bethlem myopathy 1A [RCV000549863]|COL6A3-related disorder [RCV004553023]|Collagen 6-related myopathy [RCV000294570]|not specified [RCV000180597] Chr2:237372138 [GRCh38]
Chr2:238280781 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) single nucleotide variant Bethlem myopathy 1A [RCV000557584]|COL6A3-related disorder [RCV004553011]|Collagen 6-related myopathy [RCV000267124]|Dystonia 27 [RCV002298505]|not provided [RCV001753582]|not specified [RCV000178890] Chr2:237381334 [GRCh38]
Chr2:238289977 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) single nucleotide variant Bethlem myopathy 1A [RCV000528668]|COL6A3-related disorder [RCV004553000]|Collagen 6-related myopathy [RCV000359541]|not provided [RCV001721120]|not specified [RCV000177940] Chr2:237340570 [GRCh38]
Chr2:238249213 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.8465-7del deletion Bethlem myopathy 1A [RCV000530174]|COL6A3-related disorder [RCV004553001]|Collagen 6-related myopathy [RCV000354227]|not specified [RCV000178004] Chr2:237339124 [GRCh38]
Chr2:238247767 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) single nucleotide variant Bethlem myopathy 1A [RCV001088802]|COL6A3-related disorder [RCV004553004]|Collagen 6-related myopathy [RCV000355357]|Inborn genetic diseases [RCV002516770]|not provided [RCV000981752]|not specified [RCV000178213] Chr2:237388119 [GRCh38]
Chr2:238296762 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) single nucleotide variant Bethlem myopathy 1A [RCV000987067]|Collagen 6-related myopathy [RCV000267921]|not provided [RCV000710905]|not specified [RCV000179435] Chr2:237379103 [GRCh38]
Chr2:238287746 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) single nucleotide variant Bethlem myopathy 1A [RCV000536326]|Collagen 6-related myopathy [RCV000290174]|not provided [RCV004708078]|not specified [RCV000178439] Chr2:237336355 [GRCh38]
Chr2:238244998 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3318C>T (p.Pro1106=) single nucleotide variant not provided [RCV000597142] Chr2:237374773 [GRCh38]
Chr2:238283416 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8869G>A (p.Ala2957Thr) single nucleotide variant Inborn genetic diseases [RCV003206596] Chr2:237336231 [GRCh38]
Chr2:238244874 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.619C>A (p.His207Asn) single nucleotide variant Bethlem myopathy 1A [RCV001348310] Chr2:237394677 [GRCh38]
Chr2:238303320 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.6115C>T (p.Gln2039Ter) single nucleotide variant not provided [RCV001310784] Chr2:237361780 [GRCh38]
Chr2:238270423 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met) single nucleotide variant Bethlem myopathy 1A [RCV000256486]|Collagen 6-related myopathy [RCV000291174]|not provided [RCV000498501] Chr2:237372173 [GRCh38]
Chr2:238280816 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly) single nucleotide variant Bethlem myopathy 1A [RCV001303434] Chr2:237358568 [GRCh38]
Chr2:238267211 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6691-3C>T single nucleotide variant Bethlem myopathy 1A [RCV001349012] Chr2:237352587 [GRCh38]
Chr2:238261230 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4413T>C (p.Ser1471=) single nucleotide variant not provided [RCV000173800] Chr2:237369050 [GRCh38]
Chr2:238277693 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu) single nucleotide variant Bethlem myopathy 1A [RCV000794950]|not provided [RCV000173801] Chr2:237369027 [GRCh38]
Chr2:238277670 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5501-4C>G single nucleotide variant Bethlem myopathy 1A [RCV001085054]|not provided [RCV000174329] Chr2:237366039 [GRCh38]
Chr2:238274682 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) single nucleotide variant Bethlem myopathy 1A [RCV000653607]|not provided [RCV001530538]|not specified [RCV000174330] Chr2:237365824 [GRCh38]
Chr2:238274467 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) single nucleotide variant Bethlem myopathy 1A [RCV001852124]|not provided [RCV000174331] Chr2:237365852 [GRCh38]
Chr2:238274495 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) single nucleotide variant Bethlem myopathy 1A [RCV000547737]|Bethlem myopathy 1A [RCV000765642]|COL6A3-related disorder [RCV004737265]|not provided [RCV000174099] Chr2:237366846 [GRCh38]
Chr2:238275489 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) single nucleotide variant Bethlem myopathy 1A [RCV000699713]|Dystonia 27 [RCV000172848]|Ullrich congenital muscular dystrophy 1A [RCV001198487]|not provided [RCV004719736] Chr2:237344358 [GRCh38]
Chr2:238253001 [GRCh37]
Chr2:2q37.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) single nucleotide variant Bethlem myopathy 1A [RCV001082877]|COL6A3-related disorder [RCV004552949]|Collagen 6-related myopathy [RCV000277291]|Dystonia 27 [RCV000172849]|Tip-toe gait [RCV002227451]|not provided [RCV000653630]|not specified [RCV000374757] Chr2:237334727 [GRCh38]
Chr2:238243370 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653631]|COL6A3-related disorder [RCV004725024]|Collagen 6-related myopathy [RCV000403938]|Dystonia 27 [RCV000172850]|not provided [RCV001310783]|not specified [RCV000272249] Chr2:237333533 [GRCh38]
Chr2:238242176 [GRCh37]
Chr2:2q37.3		 pathogenic|benign|likely benign
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) single nucleotide variant Bethlem myopathy 1A [RCV001372713]|Collagen 6-related myopathy [RCV000389218]|Dystonia 27 [RCV000172852] Chr2:237344516 [GRCh38]
Chr2:238253159 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8966-1G>C single nucleotide variant Bethlem myopathy 1A [RCV000688238]|Dystonia 27 [RCV000172851]|not provided [RCV000592070] Chr2:237334890 [GRCh38]
Chr2:238243533 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 copy number loss See cases [RCV000137411] Chr2:234058757..239443690 [GRCh38]
Chr2:234967401..240365384 [GRCh37]
Chr2:234632140..240030321 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1 copy number loss See cases [RCV000137830] Chr2:235757098..239443690 [GRCh38]
Chr2:236665742..240365384 [GRCh37]
Chr2:236330481..240030321 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) single nucleotide variant Bethlem myopathy 1A [RCV001083049]|COL6A3-related disorder [RCV004553105]|not provided [RCV000539163]|not specified [RCV000202790] Chr2:237372011 [GRCh38]
Chr2:238280654 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
NM_004369.4(COL6A3):c.1826G>A (p.Arg609Gln) single nucleotide variant Bethlem myopathy 1A [RCV000795686]|Collagen 6-related myopathy [RCV001139244]|not provided [RCV000730637] Chr2:237380986 [GRCh38]
Chr2:238289629 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) single nucleotide variant Bethlem myopathy 1A [RCV000515295]|Bethlem myopathy 1A [RCV000653501]|Collagen 6-related myopathy [RCV001139121]|not provided [RCV000724543]|not specified [RCV000247969] Chr2:237376802 [GRCh38]
Chr2:238285445 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) single nucleotide variant Bethlem myopathy 1A [RCV000987066]|COL6A3-related disorder [RCV004551301]|Collagen 6-related myopathy [RCV000350868]|Dystonia 27 [RCV002295283]|not provided [RCV001719926]|not specified [RCV000174100] Chr2:237367275 [GRCh38]
Chr2:238275918 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5681C>T (p.Pro1894Leu) single nucleotide variant Bethlem myopathy 1A [RCV000701757] Chr2:237365855 [GRCh38]
Chr2:238274498 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.3(COL6A3):c.5869G>T (p.Gly1957Ter) single nucleotide variant Congenital muscular dystrophy [RCV000149953] Chr2:237364398 [GRCh38]
Chr2:238273041 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) single nucleotide variant Bethlem myopathy 1A [RCV000817834]|Collagen 6-related myopathy [RCV000369192]|not provided [RCV000725025] Chr2:237350158 [GRCh38]
Chr2:238258801 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6871G>T (p.Gly2291Trp) single nucleotide variant not provided [RCV000311114] Chr2:237350155 [GRCh38]
Chr2:238258798 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.8920G>A (p.Ala2974Thr) single nucleotide variant Bethlem myopathy 1A [RCV003518515] Chr2:237336180 [GRCh38]
Chr2:238244823 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) single nucleotide variant Bethlem myopathy 1A [RCV000804572]|Collagen 6-related myopathy [RCV000371027]|not provided [RCV000727373] Chr2:237378828 [GRCh38]
Chr2:238287471 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3470G>T (p.Arg1157Met) single nucleotide variant Bethlem myopathy 1A [RCV001938195] Chr2:237374621 [GRCh38]
Chr2:238283264 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4311T>G (p.Ile1437Met) single nucleotide variant Bethlem myopathy 1A [RCV001298713] Chr2:237369152 [GRCh38]
Chr2:238277795 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.3(COL6A3):c.5942G>T (p.Gly1981Val) single nucleotide variant Congenital muscular dystrophy [RCV000149962] Chr2:237363374 [GRCh38]
Chr2:238272017 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.3(COL6A3):c.6194G>A (p.Gly2065Asp) single nucleotide variant Congenital muscular dystrophy [RCV000149963] Chr2:237361137 [GRCh38]
Chr2:238269780 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.3(COL6A3):c.7216G>T (p.Ala2406Ser) single nucleotide variant Congenital muscular dystrophy [RCV000149964] Chr2:237344802 [GRCh38]
Chr2:238253445 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8735C>T (p.Pro2912Leu) single nucleotide variant Bethlem myopathy 1A [RCV000560301]|Collagen 6-related myopathy [RCV000347216]|not specified [RCV000153088] Chr2:237336365 [GRCh38]
Chr2:238245008 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3270C>T (p.Asp1090=) single nucleotide variant Bethlem myopathy 1A [RCV001080193]|Collagen 6-related myopathy [RCV000277957]|not provided [RCV000416096]|not specified [RCV000153098] Chr2:237374821 [GRCh38]
Chr2:238283464 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) single nucleotide variant Bethlem myopathy 1A [RCV001087660]|Collagen 6-related myopathy [RCV000278723]|not provided [RCV000153089] Chr2:237344617 [GRCh38]
Chr2:238253260 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) single nucleotide variant Bethlem myopathy 1A [RCV000525963]|COL6A3-related disorder [RCV004551318]|Collagen 6-related myopathy [RCV000344093]|Inborn genetic diseases [RCV000190770]|not provided [RCV001706016]|not specified [RCV000250883] Chr2:237347829 [GRCh38]
Chr2:238256472 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653606]|Collagen 6-related myopathy [RCV000354274]|Inborn genetic diseases [RCV002514950]|not provided [RCV001706017]|not specified [RCV000248266] Chr2:237352524 [GRCh38]
Chr2:238261167 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6157-4T>G single nucleotide variant Bethlem myopathy 1A [RCV002056028]|COL6A3-related disorder [RCV004551319]|not provided [RCV000153092] Chr2:237361178 [GRCh38]
Chr2:238269821 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5910C>T (p.Arg1970=) single nucleotide variant Bethlem myopathy 1A [RCV001497015]|not provided [RCV000153093] Chr2:237364357 [GRCh38]
Chr2:238273000 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) single nucleotide variant Bethlem myopathy 1A [RCV001079654]|Collagen 6-related myopathy [RCV000302602]|not provided [RCV000415904]|not specified [RCV000249315] Chr2:237365917 [GRCh38]
Chr2:238274560 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp) single nucleotide variant Bethlem myopathy 1A [RCV000528795]|Collagen 6-related myopathy [RCV001141518]|not provided [RCV000487673]|not specified [RCV004586573] Chr2:237368953 [GRCh38]
Chr2:238277596 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) single nucleotide variant not provided [RCV000153096] Chr2:237372035 [GRCh38]
Chr2:238280678 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3287G>A (p.Arg1096His) single nucleotide variant Bethlem myopathy 1A [RCV001087811]|not provided [RCV000153097] Chr2:237374804 [GRCh38]
Chr2:238283447 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.292A>T (p.Thr98Ser) single nucleotide variant Bethlem myopathy 1A [RCV000551535]|Collagen 6-related myopathy [RCV000381279]|not provided [RCV004710558]|not specified [RCV000153099] Chr2:237395004 [GRCh38]
Chr2:238303647 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) single nucleotide variant Bethlem myopathy 1A [RCV001086134]|Collagen 6-related myopathy [RCV000379973]|not provided [RCV000844184]|not specified [RCV000153100] Chr2:237396784 [GRCh38]
Chr2:238305427 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr) single nucleotide variant Bethlem myopathy 1A [RCV003517140]|not provided [RCV000178210] Chr2:237387747 [GRCh38]
Chr2:238296390 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) single nucleotide variant Bethlem myopathy 1A [RCV000822172]|Inborn genetic diseases [RCV002516769]|not provided [RCV000724219]|not specified [RCV001818436] Chr2:237387744 [GRCh38]
Chr2:238296387 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) single nucleotide variant Bethlem myopathy 1A [RCV001427403]|not provided [RCV000724218]|not specified [RCV000178212] Chr2:237387748 [GRCh38]
Chr2:238296391 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) single nucleotide variant Bethlem myopathy 1A [RCV000535407]|COL6A3-related disorder [RCV004553053]|not provided [RCV001547792]|not specified [RCV000193870] Chr2:237344659 [GRCh38]
Chr2:238253302 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) single nucleotide variant Bethlem myopathy 1A [RCV000557223]|Collagen 6-related myopathy [RCV000286598]|Inborn genetic diseases [RCV002516774]|not provided [RCV000178441] Chr2:237336281 [GRCh38]
Chr2:238244924 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=) single nucleotide variant Bethlem myopathy 1A [RCV001082785]|not provided [RCV000178442] Chr2:237336376 [GRCh38]
Chr2:238245019 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) single nucleotide variant Bethlem myopathy 1A [RCV001064901]|COL6A3-related disorder [RCV004553007]|not provided [RCV000178463] Chr2:237334794 [GRCh38]
Chr2:238243437 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=) single nucleotide variant Bethlem myopathy 1A [RCV000946058]|not specified [RCV000178464] Chr2:237334843 [GRCh38]
Chr2:238243486 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=) single nucleotide variant Bethlem myopathy 1A [RCV001088696]|Collagen 6-related myopathy [RCV001138503]|not provided [RCV000178465] Chr2:237334885 [GRCh38]
Chr2:238243528 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) single nucleotide variant Bethlem myopathy 1A [RCV001306900]|not provided [RCV000178501] Chr2:237333530 [GRCh38]
Chr2:238242173 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr) single nucleotide variant Bethlem myopathy 1A [RCV000818011]|not provided [RCV000178531] Chr2:237325566 [GRCh38]
Chr2:238234209 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) single nucleotide variant Bethlem myopathy 1A [RCV001088407]|Collagen 6-related myopathy [RCV000286270]|not provided [RCV000178532] Chr2:237325702 [GRCh38]
Chr2:238234345 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) single nucleotide variant Bethlem myopathy 1A [RCV000653632]|Collagen 6-related myopathy [RCV000294477]|not provided [RCV001531522]|not specified [RCV000253042] Chr2:237381051 [GRCh38]
Chr2:238289694 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4888C>T (p.Pro1630Ser) single nucleotide variant Bethlem myopathy 1A [RCV000693810]|not provided [RCV000725387]|not specified [RCV000194796] Chr2:237368575 [GRCh38]
Chr2:238277218 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile) single nucleotide variant Bethlem myopathy 1A [RCV002517751]|not provided [RCV000179433] Chr2:237379185 [GRCh38]
Chr2:238287828 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) single nucleotide variant Bethlem myopathy 1A [RCV001085540]|Collagen 6-related myopathy [RCV000390685]|not provided [RCV000724740]|not specified [RCV000250704] Chr2:237378841 [GRCh38]
Chr2:238287484 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2444C>A (p.Pro815His) single nucleotide variant Bethlem myopathy 1A [RCV000653600]|not provided [RCV000179436] Chr2:237378689 [GRCh38]
Chr2:238287332 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) single nucleotide variant Bethlem myopathy 1A [RCV000539420]|not provided [RCV000724519]|not specified [RCV000179881] Chr2:237376779 [GRCh38]
Chr2:238285422 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) single nucleotide variant Bethlem myopathy 1A [RCV001852242]|not provided [RCV000180242]|not specified [RCV003398904] Chr2:237374502 [GRCh38]
Chr2:238283145 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=) single nucleotide variant Bethlem myopathy 1A [RCV002054147]|not provided [RCV000180243] Chr2:237374953 [GRCh38]
Chr2:238283596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) single nucleotide variant Bethlem myopathy 1A [RCV000653624]|COL6A3-related disorder [RCV004553022]|Collagen 6-related myopathy [RCV001143453]|Inborn genetic diseases [RCV002516813]|not provided [RCV001697128]|not specified [RCV000180244] Chr2:237374645 [GRCh38]
Chr2:238283288 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6817-5T>C single nucleotide variant Bethlem myopathy 1A [RCV002517705]|not provided [RCV000176876] Chr2:237350214 [GRCh38]
Chr2:238258857 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) single nucleotide variant Bethlem myopathy 1A [RCV000811298]|Collagen 6-related myopathy [RCV000329032]|not provided [RCV000177196] Chr2:237394886 [GRCh38]
Chr2:238303529 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) single nucleotide variant Bethlem myopathy 1A [RCV000527934]|Collagen 6-related myopathy [RCV000374173]|not provided [RCV000724314] Chr2:237371914 [GRCh38]
Chr2:238280557 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) single nucleotide variant Bethlem myopathy 1A [RCV000653662]|Inborn genetic diseases [RCV002516823]|not provided [RCV001711471]|not specified [RCV000249892] Chr2:237371800 [GRCh38]
Chr2:238280443 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) single nucleotide variant Bethlem myopathy 1A [RCV001087271]|Collagen 6-related myopathy [RCV000358989]|not provided [RCV000865062]|not specified [RCV000180599] Chr2:237371900 [GRCh38]
Chr2:238280543 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln) single nucleotide variant Bethlem myopathy 1A [RCV000803816]|not provided [RCV000180600] Chr2:237372094 [GRCh38]
Chr2:238280737 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) single nucleotide variant Bethlem myopathy 1A [RCV000794513]|not provided [RCV000724744]|not specified [RCV003488427] Chr2:237352526 [GRCh38]
Chr2:238261169 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) single nucleotide variant Bethlem myopathy 1A [RCV001079205]|Collagen 6-related myopathy [RCV000406436]|not provided [RCV000726442]|not specified [RCV000327473] Chr2:237388108 [GRCh38]
Chr2:238296751 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2756C>T (p.Ala919Val) single nucleotide variant Bethlem myopathy 1A [RCV001209515]|Collagen 6-related myopathy [RCV000407262]|Inborn genetic diseases [RCV002518047]|not provided [RCV000332055] Chr2:237377086 [GRCh38]
Chr2:238285729 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) single nucleotide variant Bethlem myopathy 1A [RCV000352490]|Bethlem myopathy 1C [RCV004589832]|COL6A3-related disorder [RCV003387788]|not provided [RCV000177877]|not specified [RCV003114326] Chr2:237344571 [GRCh38]
Chr2:238253214 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_004369.4(COL6A3):c.7175-6C>G single nucleotide variant Bethlem myopathy 1A [RCV001085616]|not provided [RCV000177878] Chr2:237344849 [GRCh38]
Chr2:238253492 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) single nucleotide variant Bethlem myopathy 1A [RCV001852203]|Inborn genetic diseases [RCV004609316]|not provided [RCV000177879] Chr2:237344794 [GRCh38]
Chr2:238253437 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) single nucleotide variant Bethlem myopathy 1A [RCV000553572]|not provided [RCV000177880] Chr2:237344504 [GRCh38]
Chr2:238253147 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7398G>A (p.Lys2466=) single nucleotide variant not provided [RCV000177881] Chr2:237344620 [GRCh38]
Chr2:238253263 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala) single nucleotide variant Bethlem myopathy 1A [RCV000690650]|not provided [RCV000177882] Chr2:237344577 [GRCh38]
Chr2:238253220 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7706C>G (p.Pro2569Arg) single nucleotide variant not provided [RCV000177913] Chr2:237342124 [GRCh38]
Chr2:238250767 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8344G>A (p.Glu2782Lys) single nucleotide variant not provided [RCV000177939] Chr2:237340572 [GRCh38]
Chr2:238249215 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=) single nucleotide variant Bethlem myopathy 1A [RCV001088529]|Collagen 6-related myopathy [RCV001138187]|not provided [RCV000177941] Chr2:237340501 [GRCh38]
Chr2:238249144 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) single nucleotide variant Bethlem myopathy 1A [RCV001081264]|Collagen 6-related myopathy [RCV000270502]|Tip-toe gait [RCV002226459]|not provided [RCV000177942]|not specified [RCV000254307] Chr2:237340727 [GRCh38]
Chr2:238249370 [GRCh37]
Chr2:2q37.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) single nucleotide variant Bethlem myopathy 1A [RCV003765955]|Collagen 6-related myopathy [RCV000264453] Chr2:237371909 [GRCh38]
Chr2:238280552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) single nucleotide variant Bethlem myopathy 1A [RCV000815769]|Collagen 6-related myopathy [RCV000388800]|not provided [RCV000367618] Chr2:237372116 [GRCh38]
Chr2:238280759 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) single nucleotide variant Bethlem myopathy 1A [RCV000877141]|Collagen 6-related myopathy [RCV000388697]|not provided [RCV003430816]|not specified [RCV000404369] Chr2:237387666 [GRCh38]
Chr2:238296309 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4900+9C>T single nucleotide variant Bethlem myopathy 1A [RCV001084936]|COL6A3-related disorder [RCV004547705]|Collagen 6-related myopathy [RCV000389136]|Dystonia 27 [RCV002298564]|not provided [RCV000725761]|not specified [RCV000306414] Chr2:237368554 [GRCh38]
Chr2:238277197 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6355-1G>A single nucleotide variant not provided [RCV000593093] Chr2:237359089 [GRCh38]
Chr2:238267732 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3371C>T (p.Ala1124Val) single nucleotide variant Bethlem myopathy 1A [RCV000530876]|Collagen 6-related myopathy [RCV000404395]|not provided [RCV000318950] Chr2:237374720 [GRCh38]
Chr2:238283363 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu) single nucleotide variant Bethlem myopathy 1A [RCV001088919]|Collagen 6-related myopathy [RCV000404804]|not provided [RCV000585228] Chr2:237365703 [GRCh38]
Chr2:238274346 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3445C>T (p.Arg1149Trp) single nucleotide variant Bethlem myopathy 1A [RCV000689188]|Collagen 6-related myopathy [RCV000405233]|not provided [RCV000725525] Chr2:237374646 [GRCh38]
Chr2:238283289 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter) single nucleotide variant Myopathy [RCV000192833]|not provided [RCV001781568] Chr2:237361150 [GRCh38]
Chr2:238269793 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr) single nucleotide variant Bethlem myopathy 1A [RCV000543340]|Bethlem myopathy 1A [RCV002494822]|Collagen 6-related myopathy [RCV000303951]|Dystonia 27 [RCV002295295]|not specified [RCV000380084] Chr2:237387936 [GRCh38]
Chr2:238296579 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1216C>T (p.Arg406Cys) single nucleotide variant Bethlem myopathy 1A [RCV001052126]|COL6A3-related phenotype [RCV000984978]|Collagen 6-related myopathy [RCV000294221]|not provided [RCV000308759] Chr2:237387678 [GRCh38]
Chr2:238296321 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) single nucleotide variant Bethlem myopathy 1A [RCV001085464]|Collagen 6-related myopathy [RCV000298917]|not provided [RCV000365087] Chr2:237365884 [GRCh38]
Chr2:238274527 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) single nucleotide variant Bethlem myopathy 1A [RCV001084512]|Collagen 6-related myopathy [RCV000298936]|not provided [RCV000725119]|not specified [RCV000290437] Chr2:237388135 [GRCh38]
Chr2:238296778 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) single nucleotide variant Bethlem myopathy 1A [RCV000820873]|Collagen 6-related myopathy [RCV000300486]|not provided [RCV000725577]|not specified [RCV000311736] Chr2:237388118 [GRCh38]
Chr2:238296761 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2205C>T (p.Gly735=) single nucleotide variant Bethlem myopathy 1A [RCV001081675]|Collagen 6-related myopathy [RCV000272769]|not provided [RCV000841660]|not specified [RCV000350444] Chr2:237378928 [GRCh38]
Chr2:238287571 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) single nucleotide variant Bethlem myopathy 1A [RCV000653619]|Collagen 6-related myopathy [RCV000274489]|Inborn genetic diseases [RCV003165744]|not specified [RCV000259898] Chr2:237374886 [GRCh38]
Chr2:238283529 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5635G>A (p.Gly1879Ser) single nucleotide variant Bethlem myopathy 1A [RCV000542511]|Collagen 6-related myopathy [RCV000263794]|not provided [RCV000416242] Chr2:237365901 [GRCh38]
Chr2:238274544 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) single nucleotide variant Bethlem myopathy 1A [RCV001089085]|COL6A3-related disorder [RCV004547673]|Collagen 6-related myopathy [RCV000280523]|not provided [RCV000443634]|not specified [RCV000375535] Chr2:237324784 [GRCh38]
Chr2:238233427 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) single nucleotide variant Bethlem myopathy 1A [RCV001083780]|Collagen 6-related myopathy [RCV000290905]|not provided [RCV000726675]|not specified [RCV000377325] Chr2:237387763 [GRCh38]
Chr2:238296406 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8243C>T (p.Pro2748Leu) single nucleotide variant Bethlem myopathy 1A [RCV000701627]|Collagen 6-related myopathy [RCV000267267]|not provided [RCV000287956] Chr2:237340673 [GRCh38]
Chr2:238249316 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5470C>T (p.Leu1824Phe) single nucleotide variant Bethlem myopathy 1A [RCV000792240]|Collagen 6-related myopathy [RCV000267601]|not provided [RCV000347436] Chr2:237366717 [GRCh38]
Chr2:238275360 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) single nucleotide variant Bethlem myopathy 1A [RCV000538324]|COL6A3-related disorder [RCV004547703]|Collagen 6-related myopathy [RCV000291553]|Congenital contracture [RCV000449495]|not provided [RCV003430820]|not specified [RCV000301747] Chr2:237363348 [GRCh38]
Chr2:238271991 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.2529C>T (p.Asp843=) single nucleotide variant Bethlem myopathy 1A [RCV001423330]|Collagen 6-related myopathy [RCV000281760]|not provided [RCV000310702] Chr2:237377313 [GRCh38]
Chr2:238285956 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) single nucleotide variant Bethlem myopathy 1A [RCV000873764]|Collagen 6-related myopathy [RCV000259912]|not provided [RCV001718579]|not specified [RCV000406646] Chr2:237387646 [GRCh38]
Chr2:238296289 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) single nucleotide variant Bethlem myopathy 1A [RCV001085152]|Collagen 6-related myopathy [RCV000260455]|not provided [RCV000725694]|not specified [RCV000273883] Chr2:237371970 [GRCh38]
Chr2:238280613 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) single nucleotide variant Bethlem myopathy 1A [RCV000542766]|Bethlem myopathy 1C [RCV003992263]|Collagen 6-related myopathy [RCV000367426]|not provided [RCV000726195] Chr2:237378902 [GRCh38]
Chr2:238287545 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.972C>T (p.Leu324=) single nucleotide variant Bethlem myopathy 1A [RCV001482775]|COL6A3-related disorder [RCV004549604] Chr2:237387922 [GRCh38]
Chr2:238296565 [GRCh37]
Chr2:2q37.3		 likely benign|other
NM_004369.4(COL6A3):c.2147G>A (p.Gly716Asp) single nucleotide variant Bethlem myopathy 1A [RCV000653538]|Collagen 6-related myopathy [RCV000363927]|Inborn genetic diseases [RCV003165760]|not provided [RCV003488503]|not specified [RCV000291815] Chr2:237378986 [GRCh38]
Chr2:238287629 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238305415-238742983)x3 copy number gain Breast ductal adenocarcinoma [RCV000207230] Chr2:238305415..238742983 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) single nucleotide variant Bethlem myopathy 1A [RCV001081107]|Bethlem myopathy 1A [RCV002500745]|COL6A3-related disorder [RCV004547566]|not provided [RCV000224085] Chr2:237371834 [GRCh38]
Chr2:238280477 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1791C>T (p.Phe597=) single nucleotide variant Bethlem myopathy 1A [RCV001085014]|COL6A3-related disorder [RCV004547570]|Collagen 6-related myopathy [RCV000279673]|not provided [RCV000224750]|not specified [RCV000250420] Chr2:237381021 [GRCh38]
Chr2:238289664 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter) single nucleotide variant Bethlem myopathy 1A [RCV000232617]|not provided [RCV001781634] Chr2:237344754 [GRCh38]
Chr2:238253397 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) single nucleotide variant Bethlem myopathy 1A [RCV000551776]|COL6A3-related disorder [RCV004547699]|Collagen 6-related myopathy [RCV000318494]|not specified [RCV000293957] Chr2:237334838 [GRCh38]
Chr2:238243481 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) single nucleotide variant Bethlem myopathy 1A [RCV001079283]|Collagen 6-related myopathy [RCV000319329]|not provided [RCV000547480]|not specified [RCV000380662] Chr2:237354908 [GRCh38]
Chr2:238263551 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1975C>T (p.Arg659Cys) single nucleotide variant Bethlem myopathy 1A [RCV001243245]|Collagen 6-related myopathy [RCV000319603]|not provided [RCV000725122] Chr2:237379158 [GRCh38]
Chr2:238287801 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8168T>C (p.Ile2723Thr) single nucleotide variant Bethlem myopathy 1A [RCV000686686]|Collagen 6-related myopathy [RCV000327869]|not provided [RCV001589105]|not specified [RCV000233428] Chr2:237340748 [GRCh38]
Chr2:238249391 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) single nucleotide variant Bethlem myopathy 1A [RCV002517430]|not provided [RCV000726452]|not specified [RCV000234678] Chr2:237378915 [GRCh38]
Chr2:238287558 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1538G>A (p.Arg513Gln) single nucleotide variant Bethlem myopathy 1A [RCV000550927]|Collagen 6-related myopathy [RCV000361775]|not provided [RCV000390040] Chr2:237381274 [GRCh38]
Chr2:238289917 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.7446C>G (p.Ser2482=) single nucleotide variant Bethlem myopathy 1A [RCV000653658]|not provided [RCV000595796] Chr2:237344572 [GRCh38]
Chr2:238253215 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) single nucleotide variant Bethlem myopathy 1A [RCV001204637]|COL6A3-related disorder [RCV004547666]|Collagen 6-related myopathy [RCV000328641]|Ullrich congenital muscular dystrophy 1A [RCV003137882]|not provided [RCV000341324] Chr2:237344411 [GRCh38]
Chr2:238253054 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653528]|not provided [RCV000329760] Chr2:237361138 [GRCh38]
Chr2:238269781 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) single nucleotide variant Bethlem myopathy 1A [RCV001084586]|COL6A3-related disorder [RCV004549609]|Collagen 6-related myopathy [RCV000324786]|not provided [RCV000726174] Chr2:237340723 [GRCh38]
Chr2:238249366 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) single nucleotide variant Bethlem myopathy 1A [RCV000697460]|Bethlem myopathy 1A [RCV001535515]|Collagen 6-related myopathy [RCV000324975]|not provided [RCV000725699] Chr2:237374973 [GRCh38]
Chr2:238283616 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) single nucleotide variant Bethlem myopathy 1A [RCV000558809]|Collagen 6-related myopathy [RCV000312116]|not provided [RCV000725390] Chr2:237336464 [GRCh38]
Chr2:238245107 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) single nucleotide variant Bethlem myopathy 1A [RCV001089336]|COL6A3-related disorder [RCV004549612]|Collagen 6-related myopathy [RCV000312400]|not provided [RCV000726315] Chr2:237334708 [GRCh38]
Chr2:238243351 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8007C>T (p.His2669=) single nucleotide variant Bethlem myopathy 1A [RCV000537415]|Collagen 6-related myopathy [RCV000335181]|not provided [RCV001697639]|not specified [RCV000376491] Chr2:237340909 [GRCh38]
Chr2:238249552 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.8804C>T (p.Ala2935Val) single nucleotide variant Bethlem myopathy 1A [RCV000548838]|Collagen 6-related myopathy [RCV000343880]|not provided [RCV001707609]|not specified [RCV000387275] Chr2:237336296 [GRCh38]
Chr2:238244939 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4032G>A (p.Ser1344=) single nucleotide variant Bethlem myopathy 1A [RCV000653679]|COL6A3-related disorder [RCV004549608]|Collagen 6-related myopathy [RCV000315738]|not provided [RCV003884444]|not specified [RCV000378163] Chr2:237371985 [GRCh38]
Chr2:238280628 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.9494-10C>T single nucleotide variant Bethlem myopathy 1A [RCV001081267]|COL6A3-related disorder [RCV004547698]|Collagen 6-related myopathy [RCV000340262]|not provided [RCV000725664] Chr2:237324824 [GRCh38]
Chr2:238233467 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1208C>T (p.Pro403Leu) single nucleotide variant Bethlem myopathy 1A [RCV003517176]|Collagen 6-related myopathy [RCV000349130]|not provided [RCV000327015] Chr2:237387686 [GRCh38]
Chr2:238296329 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8632A>G (p.Thr2878Ala) single nucleotide variant Bethlem myopathy 1A [RCV000687574]|Collagen 6-related myopathy [RCV000350575]|not provided [RCV000289268] Chr2:237336468 [GRCh38]
Chr2:238245111 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) single nucleotide variant Bethlem myopathy 1A [RCV001082018]|COL6A3-related disorder [RCV004547683]|Collagen 6-related myopathy [RCV000309895]|not provided [RCV000329710] Chr2:237381189 [GRCh38]
Chr2:238289832 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3750C>T (p.Tyr1250=) single nucleotide variant Bethlem myopathy 1A [RCV001434039]|not specified [RCV000601101] Chr2:237372267 [GRCh38]
Chr2:238280910 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.761del (p.Gly254fs) deletion Bethlem myopathy 1A [RCV002519256]|not provided [RCV000322270] Chr2:237388133 [GRCh38]
Chr2:238296776 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) single nucleotide variant Bethlem myopathy 1A [RCV001081211]|Collagen 6-related myopathy [RCV000298696]|not provided [RCV000730383]|not specified [RCV000243650] Chr2:237374767 [GRCh38]
Chr2:238283410 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6754-9C>G single nucleotide variant Bethlem myopathy 1A [RCV002058156]|not provided [RCV000726944]|not specified [RCV000253304] Chr2:237351201 [GRCh38]
Chr2:238259844 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val) single nucleotide variant Bethlem myopathy 1A [RCV000529470] Chr2:237360140 [GRCh38]
Chr2:238268783 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.7029+10C>T single nucleotide variant Bethlem myopathy 1A [RCV001081080]|Collagen 6-related myopathy [RCV000286829]|not provided [RCV000729824]|not specified [RCV000613553] Chr2:237347797 [GRCh38]
Chr2:238256440 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) single nucleotide variant Bethlem myopathy 1A [RCV000552667]|not provided [RCV000591318] Chr2:237387601 [GRCh38]
Chr2:238296244 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) single nucleotide variant Bethlem myopathy 1A [RCV000543223]|not provided [RCV000727538]|not specified [RCV000243769] Chr2:237368614 [GRCh38]
Chr2:238277257 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.-115G>A single nucleotide variant Collagen 6-related myopathy [RCV000283087] Chr2:237414037 [GRCh38]
Chr2:238322680 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) single nucleotide variant Bethlem myopathy 1A [RCV000532892]|Collagen 6-related myopathy [RCV000268008]|not provided [RCV001722319]|not specified [RCV000251265] Chr2:237371848 [GRCh38]
Chr2:238280491 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.409C>T (p.Arg137Trp) single nucleotide variant Bethlem myopathy 1A [RCV001216065]|not provided [RCV000521063] Chr2:237394887 [GRCh38]
Chr2:238303530 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5917+27A>G single nucleotide variant not provided [RCV001567162]|not specified [RCV000241681] Chr2:237364323 [GRCh38]
Chr2:238272966 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.91+11G>C single nucleotide variant Bethlem myopathy 1A [RCV002058157]|Collagen 6-related myopathy [RCV000341958]|not specified [RCV000248923] Chr2:237396716 [GRCh38]
Chr2:238305359 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) single nucleotide variant Bethlem myopathy 1A [RCV001087220]|not provided [RCV000731459]|not specified [RCV000248967] Chr2:237372006 [GRCh38]
Chr2:238280649 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) single nucleotide variant Bethlem myopathy 1A [RCV001089254]|not provided [RCV000726380]|not specified [RCV000249031] Chr2:237367048 [GRCh38]
Chr2:238275691 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) single nucleotide variant Bethlem myopathy 1A [RCV001084055]|Collagen 6-related myopathy [RCV000277710]|not provided [RCV000725060]|not specified [RCV000249125] Chr2:237394807 [GRCh38]
Chr2:238303450 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6690+39T>C single nucleotide variant not provided [RCV000839059]|not specified [RCV000244533] Chr2:237353302 [GRCh38]
Chr2:238261945 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6156+16C>G single nucleotide variant not specified [RCV000246977] Chr2:237361723 [GRCh38]
Chr2:238270366 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) single nucleotide variant Bethlem myopathy 1A [RCV001443936]|not provided [RCV000732973]|not specified [RCV000254299] Chr2:237394720 [GRCh38]
Chr2:238303363 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5241C>T (p.Ala1747=) single nucleotide variant not specified [RCV000254417] Chr2:237366946 [GRCh38]
Chr2:238275589 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5179C>T (p.Arg1727Trp) single nucleotide variant Bethlem myopathy 1A [RCV000548120]|Collagen 6-related myopathy [RCV000271199]|not provided [RCV001571175] Chr2:237367008 [GRCh38]
Chr2:238275651 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) single nucleotide variant Bethlem myopathy 1A [RCV000531504]|Bethlem myopathy 1A [RCV002494741]|Collagen 6-related myopathy [RCV000403582]|not provided [RCV001090755]|not specified [RCV000247248] Chr2:237378670 [GRCh38]
Chr2:238287313 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) single nucleotide variant Bethlem myopathy 1A [RCV001089253]|not provided [RCV000730871]|not specified [RCV000252161] Chr2:237387838 [GRCh38]
Chr2:238296481 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5838+7G>C single nucleotide variant Bethlem myopathy 1A [RCV002058155]|not specified [RCV000249716] Chr2:237365691 [GRCh38]
Chr2:238274334 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8568-19A>G single nucleotide variant not specified [RCV000249740] Chr2:237336551 [GRCh38]
Chr2:238245194 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) single nucleotide variant Bethlem myopathy 1A [RCV000548891]|Collagen 6-related myopathy [RCV001141403]|not provided [RCV001697599]|not specified [RCV000245157] Chr2:237365716 [GRCh38]
Chr2:238274359 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.4432G>A (p.Val1478Met) single nucleotide variant Bethlem myopathy 1A [RCV000653583]|not provided [RCV000520483] Chr2:237369031 [GRCh38]
Chr2:238277674 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.*606A>T single nucleotide variant Collagen 6-related myopathy [RCV000275535]|not provided [RCV004708556] Chr2:237324168 [GRCh38]
Chr2:238232811 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) single nucleotide variant Bethlem myopathy 1A [RCV001326529]|Collagen 6-related myopathy [RCV001141744]|not provided [RCV000725228]|not specified [RCV000242993] Chr2:237377168 [GRCh38]
Chr2:238285811 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8465-7dup duplication Bethlem myopathy 1A [RCV000864289]|not provided [RCV001589259]|not specified [RCV000243037] Chr2:237339123..237339124 [GRCh38]
Chr2:238247766..238247767 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6538-13T>C single nucleotide variant Bethlem myopathy 1A [RCV003517159]|not specified [RCV000247962] Chr2:237357404 [GRCh38]
Chr2:238266047 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-6C>T single nucleotide variant Bethlem myopathy 1A [RCV000550949]|Collagen 6-related myopathy [RCV000345443]|not provided [RCV001722320]|not specified [RCV000250434] Chr2:237361837 [GRCh38]
Chr2:238270480 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.414C>T (p.Ala138=) single nucleotide variant Bethlem myopathy 1A [RCV001517180]|Collagen 6-related myopathy [RCV000271825]|not provided [RCV000598068] Chr2:237394882 [GRCh38]
Chr2:238303525 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6879+33C>T single nucleotide variant COL6A3-related disorder [RCV004547637]|not provided [RCV001534160] Chr2:237350114 [GRCh38]
Chr2:238258757 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) single nucleotide variant Bethlem myopathy 1A [RCV002519952]|Collagen 6-related myopathy [RCV000314267]|Ullrich congenital muscular dystrophy 1A [RCV003137960]|not provided [RCV001597100] Chr2:237365703 [GRCh38]
Chr2:238274346 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7308G>A (p.Glu2436=) single nucleotide variant Bethlem myopathy 1A [RCV001423320]|Collagen 6-related myopathy [RCV000374355] Chr2:237344710 [GRCh38]
Chr2:238253353 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6852C>T (p.Ile2284=) single nucleotide variant Bethlem myopathy 1A [RCV001078521]|Collagen 6-related myopathy [RCV000315661]|not provided [RCV000731920] Chr2:237350174 [GRCh38]
Chr2:238258817 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3286C>T (p.Arg1096Cys) single nucleotide variant Bethlem myopathy 1A [RCV001245096]|Collagen 6-related myopathy [RCV000353967]|not provided [RCV003137961] Chr2:237374805 [GRCh38]
Chr2:238283448 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1996G>A (p.Val666Ile) single nucleotide variant Bethlem myopathy 1A [RCV001865214]|Collagen 6-related myopathy [RCV000377726]|not provided [RCV000997706] Chr2:237379137 [GRCh38]
Chr2:238287780 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8385C>T (p.Phe2795=) single nucleotide variant Bethlem myopathy 1A [RCV003517184]|Collagen 6-related myopathy [RCV000302476] Chr2:237340531 [GRCh38]
Chr2:238249174 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1313-7C>T single nucleotide variant Bethlem myopathy 1A [RCV000951930]|Collagen 6-related myopathy [RCV000318516] Chr2:237381506 [GRCh38]
Chr2:238290149 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) single nucleotide variant Bethlem myopathy 1A [RCV001307605]|Collagen 6-related myopathy [RCV000357078]|not provided [RCV003144225] Chr2:237374679 [GRCh38]
Chr2:238283322 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6174C>T (p.Asp2058=) single nucleotide variant Bethlem myopathy 1A [RCV001476410]|Collagen 6-related myopathy [RCV000380440]|not provided [RCV000997704] Chr2:237361157 [GRCh38]
Chr2:238269800 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.91+15C>T single nucleotide variant Bethlem myopathy 1A [RCV002057681]|Collagen 6-related myopathy [RCV000289271] Chr2:237396712 [GRCh38]
Chr2:238305355 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.8189C>T (p.Ala2730Val) single nucleotide variant Collagen 6-related myopathy [RCV000381713] Chr2:237340727 [GRCh38]
Chr2:238249370 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5252C>T (p.Thr1751Met) single nucleotide variant Bethlem myopathy 1A [RCV000805218]|Collagen 6-related myopathy [RCV000381887]|Inborn genetic diseases [RCV003258771] Chr2:237366935 [GRCh38]
Chr2:238275578 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8725G>A (p.Ala2909Thr) single nucleotide variant Collagen 6-related myopathy [RCV000403874] Chr2:237336375 [GRCh38]
Chr2:238245018 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1562C>T (p.Ser521Leu) single nucleotide variant Bethlem myopathy 1A [RCV001087014]|Collagen 6-related myopathy [RCV000404863]|not provided [RCV000730387] Chr2:237381250 [GRCh38]
Chr2:238289893 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7175-11A>G single nucleotide variant Bethlem myopathy 1A [RCV002057678]|Collagen 6-related myopathy [RCV000340584] Chr2:237344854 [GRCh38]
Chr2:238253497 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) single nucleotide variant Bethlem myopathy 1A [RCV001088849]|Collagen 6-related myopathy [RCV000359862]|not provided [RCV000727109]|not specified [RCV000592983] Chr2:237342075 [GRCh38]
Chr2:238250718 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) single nucleotide variant Bethlem myopathy 1A [RCV002519955]|COL6A3-related disorder [RCV004549763]|Collagen 6-related myopathy [RCV000305882]|not provided [RCV000593615] Chr2:237372285 [GRCh38]
Chr2:238280928 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.-147G>A single nucleotide variant Collagen 6-related myopathy [RCV000340388] Chr2:237414069 [GRCh38]
Chr2:238322712 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3009A>T (p.Gly1003=) single nucleotide variant Bethlem myopathy 1A [RCV000653689]|Collagen 6-related myopathy [RCV000340165] Chr2:237376833 [GRCh38]
Chr2:238285476 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.9329-4A>T single nucleotide variant Bethlem myopathy 1A [RCV002057677]|Collagen 6-related myopathy [RCV000341538]|not specified [RCV000429560] Chr2:237325728 [GRCh38]
Chr2:238234371 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp) single nucleotide variant Bethlem myopathy 1A [RCV000686574]|Collagen 6-related myopathy [RCV000384051]|not provided [RCV000731144] Chr2:237374901 [GRCh38]
Chr2:238283544 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.-164T>G single nucleotide variant Collagen 6-related myopathy [RCV000407119] Chr2:237414086 [GRCh38]
Chr2:238322729 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1770T>C (p.Ala590=) single nucleotide variant Bethlem myopathy 1A [RCV002057680]|Collagen 6-related myopathy [RCV000408036] Chr2:237381042 [GRCh38]
Chr2:238289685 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1557C>T (p.Asp519=) single nucleotide variant Bethlem myopathy 1A [RCV001084758]|Collagen 6-related myopathy [RCV000306530]|not provided [RCV000598034] Chr2:237381255 [GRCh38]
Chr2:238289898 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2027T>G (p.Ile676Ser) single nucleotide variant Collagen 6-related myopathy [RCV000323033]|Inborn genetic diseases [RCV003372688] Chr2:237379106 [GRCh38]
Chr2:238287749 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3714C>T (p.Ile1238=) single nucleotide variant Bethlem myopathy 1A [RCV001447868]|Collagen 6-related myopathy [RCV000342016] Chr2:237372303 [GRCh38]
Chr2:238280946 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.461C>T (p.Ser154Leu) single nucleotide variant Bethlem myopathy 1A [RCV000795594]|Collagen 6-related myopathy [RCV000387185]|not provided [RCV000594149] Chr2:237394835 [GRCh38]
Chr2:238303478 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8137A>G (p.Arg2713Gly) single nucleotide variant Bethlem myopathy 1A [RCV000704197]|Collagen 6-related myopathy [RCV000293242] Chr2:237340779 [GRCh38]
Chr2:238249422 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4935T>C (p.Asp1645=) single nucleotide variant Bethlem myopathy 1A [RCV002519954]|Collagen 6-related myopathy [RCV000293578]|not specified [RCV004586686] Chr2:237367252 [GRCh38]
Chr2:238275895 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.*663T>G single nucleotide variant Collagen 6-related myopathy [RCV000365470] Chr2:237324111 [GRCh38]
Chr2:238232754 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.1063G>A (p.Ala355Thr) single nucleotide variant Bethlem myopathy 1A [RCV001235361]|Collagen 6-related myopathy [RCV000345761]|not provided [RCV003144227] Chr2:237387831 [GRCh38]
Chr2:238296474 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1574C>T (p.Thr525Met) single nucleotide variant Bethlem myopathy 1A [RCV001239780]|Collagen 6-related myopathy [RCV000346069]|Inborn genetic diseases [RCV004021805]|not provided [RCV003137962] Chr2:237381238 [GRCh38]
Chr2:238289881 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.*377C>T single nucleotide variant Collagen 6-related myopathy [RCV000389740] Chr2:237324397 [GRCh38]
Chr2:238233040 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5655G>C (p.Val1885=) single nucleotide variant Collagen 6-related myopathy [RCV000390649] Chr2:237365881 [GRCh38]
Chr2:238274524 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.*285A>G single nucleotide variant Collagen 6-related myopathy [RCV000295358] Chr2:237324489 [GRCh38]
Chr2:238233132 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2189A>G (p.His730Arg) single nucleotide variant Bethlem myopathy 1A [RCV002523126]|Collagen 6-related myopathy [RCV000327990]|Inborn genetic diseases [RCV003168508]|not provided [RCV003144226] Chr2:237378944 [GRCh38]
Chr2:238287587 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3235G>A (p.Glu1079Lys) single nucleotide variant Bethlem myopathy 1A [RCV002523125]|Collagen 6-related myopathy [RCV000369073] Chr2:237374856 [GRCh38]
Chr2:238283499 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.*665G>T single nucleotide variant Collagen 6-related myopathy [RCV000329533]|not provided [RCV004708555] Chr2:237324109 [GRCh38]
Chr2:237324109..237324110 [GRCh38]
Chr2:238232752 [GRCh37]
Chr2:238232752..238232753 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.5838+12C>A single nucleotide variant Bethlem myopathy 1A [RCV002057679]|Collagen 6-related myopathy [RCV000348854] Chr2:237365686 [GRCh38]
Chr2:238274329 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) single nucleotide variant Bethlem myopathy 1A [RCV001087853]|Collagen 6-related myopathy [RCV000392690]|See cases [RCV002252099]|not provided [RCV000733500] Chr2:237372266 [GRCh38]
Chr2:238280909 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) single nucleotide variant Bethlem myopathy 1A [RCV003517186]|Collagen 6-related myopathy [RCV000312208]|Inborn genetic diseases [RCV004021804]|not provided [RCV003430852] Chr2:237350148 [GRCh38]
Chr2:238258791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.*426G>A single nucleotide variant Collagen 6-related myopathy [RCV000330655] Chr2:237324348 [GRCh38]
Chr2:238232991 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001088712]|Collagen 6-related myopathy [RCV000330460]|not provided [RCV000734569] Chr2:237394830 [GRCh38]
Chr2:238303473 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3862G>A (p.Ala1288Thr) single nucleotide variant Bethlem myopathy 1A [RCV002523124]|Collagen 6-related myopathy [RCV000349597]|not provided [RCV003144224] Chr2:237372155 [GRCh38]
Chr2:238280798 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5778G>A (p.Thr1926=) single nucleotide variant Bethlem myopathy 1A [RCV002519953]|Collagen 6-related myopathy [RCV000371376] Chr2:237365758 [GRCh38]
Chr2:238274401 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8097G>A (p.Val2699=) single nucleotide variant Bethlem myopathy 1A [RCV000871918]|Collagen 6-related myopathy [RCV000350555]|Dystonia 27 [RCV002298573]|Inborn genetic diseases [RCV004021803]|not provided [RCV004710886]|not specified [RCV000428967] Chr2:237340819 [GRCh38]
Chr2:238249462 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.9148G>A (p.Ala3050Thr) single nucleotide variant Bethlem myopathy 1A [RCV000653682]|COL6A3-related disorder [RCV004549762]|Collagen 6-related myopathy [RCV000396697]|Dystonia 27 [RCV002298572]|not specified [RCV000428268] Chr2:237334707 [GRCh38]
Chr2:238243350 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6879+15C>T single nucleotide variant Bethlem myopathy 1A [RCV003517185]|Collagen 6-related myopathy [RCV000396716] Chr2:237350132 [GRCh38]
Chr2:238258775 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) single nucleotide variant Bethlem myopathy 1A [RCV001207298]|COL6A3-related disorder [RCV004549593]|not provided [RCV000710911] Chr2:237348653 [GRCh38]
Chr2:238257296 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs) deletion Bethlem myopathy 1A [RCV001211664]|not provided [RCV000365913] Chr2:237371893 [GRCh38]
Chr2:238280536 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653572]|not provided [RCV000271135] Chr2:237344643 [GRCh38]
Chr2:238253286 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=) single nucleotide variant Bethlem myopathy 1A [RCV001087193]|COL6A3-related disorder [RCV004547709]|not provided [RCV000271214] Chr2:237374893 [GRCh38]
Chr2:238283536 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1322T>C (p.Val441Ala) single nucleotide variant not provided [RCV000303473] Chr2:237381490 [GRCh38]
Chr2:238290133 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8406C>T (p.Thr2802=) single nucleotide variant Bethlem myopathy 1A [RCV002059255]|not provided [RCV000303909] Chr2:237340510 [GRCh38]
Chr2:238249153 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) single nucleotide variant Bethlem myopathy 1A [RCV002059194]|not provided [RCV000302928] Chr2:237336295 [GRCh38]
Chr2:238244938 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) single nucleotide variant Bethlem myopathy 1A [RCV001406880]|COL6A3-related disorder [RCV004549600]|Collagen 6-related myopathy [RCV001141742]|not provided [RCV000726087]|not specified [RCV000304441] Chr2:237377088 [GRCh38]
Chr2:238285731 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1385A>G (p.Asn462Ser) single nucleotide variant Bethlem myopathy 1A [RCV000544280]|not provided [RCV000337261] Chr2:237381427 [GRCh38]
Chr2:238290070 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) single nucleotide variant Bethlem myopathy 1A [RCV000553217]|not provided [RCV001718587]|not specified [RCV000338801] Chr2:237365927 [GRCh38]
Chr2:238274570 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=) single nucleotide variant Bethlem myopathy 1A [RCV003765631]|not provided [RCV000337801] Chr2:237366934 [GRCh38]
Chr2:238275577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) single nucleotide variant Bethlem myopathy 1A [RCV000527253]|Bethlem myopathy 1A [RCV000765646]|COL6A3-related disorder [RCV004549607]|not provided [RCV000372216] Chr2:237376787 [GRCh38]
Chr2:238285430 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7175-6C>A single nucleotide variant not provided [RCV000371185] Chr2:237344849 [GRCh38]
Chr2:238253492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8575C>A (p.Pro2859Thr) single nucleotide variant not provided [RCV000372593] Chr2:237336525 [GRCh38]
Chr2:238245168 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val) single nucleotide variant Bethlem myopathy 1A [RCV001211733]|not provided [RCV000373212] Chr2:237325635 [GRCh38]
Chr2:238234278 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1872C>A (p.Leu624=) single nucleotide variant not provided [RCV000373497] Chr2:237380940 [GRCh38]
Chr2:238289583 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5203G>T (p.Ala1735Ser) single nucleotide variant not provided [RCV000373827] Chr2:237366984 [GRCh38]
Chr2:238275627 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu) single nucleotide variant Bethlem myopathy 1A [RCV002518834]|not provided [RCV000374027] Chr2:237368677 [GRCh38]
Chr2:238277320 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del) deletion Bethlem myopathy 1A [RCV003765641]|not provided [RCV000374062] Chr2:237371763..237371765 [GRCh38]
Chr2:238280406..238280408 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5010T>A (p.Tyr1670Ter) single nucleotide variant not provided [RCV000278646] Chr2:237367177 [GRCh38]
Chr2:238275820 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7542del (p.Phe2515fs) deletion not provided [RCV000278167] Chr2:237344476 [GRCh38]
Chr2:238253119 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn) single nucleotide variant Bethlem myopathy 1A [RCV003517168]|not provided [RCV000270193] Chr2:237345183 [GRCh38]
Chr2:238253826 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1432G>A (p.Gly478Arg) single nucleotide variant Bethlem myopathy 1A [RCV001301975]|not provided [RCV000271427] Chr2:237381380 [GRCh38]
Chr2:238290023 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6538-4C>T single nucleotide variant not provided [RCV000270359] Chr2:237357395 [GRCh38]
Chr2:238266038 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1558G>A (p.Gly520Ser) single nucleotide variant not provided [RCV000270826] Chr2:237381254 [GRCh38]
Chr2:238289897 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5634C>T (p.Ser1878=) single nucleotide variant Bethlem myopathy 1A [RCV001436303]|not provided [RCV000305350] Chr2:237365902 [GRCh38]
Chr2:238274545 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1513A>G (p.Lys505Glu) single nucleotide variant not provided [RCV000306831] Chr2:237381299 [GRCh38]
Chr2:238289942 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5622G>A (p.Arg1874=) single nucleotide variant not provided [RCV000339410] Chr2:237365914 [GRCh38]
Chr2:238274557 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9180C>G (p.Cys3060Trp) single nucleotide variant Bethlem myopathy 1A [RCV001364006]|not provided [RCV000339597] Chr2:237334675 [GRCh38]
Chr2:238243318 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) single nucleotide variant Bethlem myopathy 1A [RCV000553597]|not provided [RCV004710692]|not specified [RCV000339164] Chr2:237340458 [GRCh38]
Chr2:238249101 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.2145G>A (p.Ser715=) single nucleotide variant Bethlem myopathy 1A [RCV001089158]|not provided [RCV000340558] Chr2:237378988 [GRCh38]
Chr2:238287631 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4835C>T (p.Ser1612Leu) single nucleotide variant Bethlem myopathy 1A [RCV001403783]|not provided [RCV000340601] Chr2:237368628 [GRCh38]
Chr2:238277271 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4065G>A (p.Pro1355=) single nucleotide variant Bethlem myopathy 1A [RCV003517167]|not provided [RCV000340797] Chr2:237371952 [GRCh38]
Chr2:238280595 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3331G>A (p.Ala1111Thr) single nucleotide variant Bethlem myopathy 1A [RCV000801843]|Inborn genetic diseases [RCV002519202]|not provided [RCV000725760] Chr2:237374760 [GRCh38]
Chr2:238283403 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8974T>A (p.Ser2992Thr) single nucleotide variant not provided [RCV000339682] Chr2:237334881 [GRCh38]
Chr2:238243524 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg) single nucleotide variant Bethlem myopathy 1A [RCV003137884]|not provided [RCV000375613] Chr2:237374616 [GRCh38]
Chr2:238283259 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys) single nucleotide variant Bethlem myopathy 1A [RCV001227733]|not provided [RCV000375891] Chr2:237374472 [GRCh38]
Chr2:238283115 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn) single nucleotide variant Bethlem myopathy 1A [RCV002518876]|not provided [RCV000374506] Chr2:237388136 [GRCh38]
Chr2:238296779 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp) single nucleotide variant Bethlem myopathy 1A [RCV000396169]|not provided [RCV000485229] Chr2:237360158 [GRCh38]
Chr2:238268801 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.2497+9C>T single nucleotide variant Bethlem myopathy 1A [RCV003517171]|not provided [RCV000271100] Chr2:237378627 [GRCh38]
Chr2:238287270 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2984C>T (p.Ala995Val) single nucleotide variant not provided [RCV000308540] Chr2:237376858 [GRCh38]
Chr2:238285501 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.284C>T (p.Thr95Met) single nucleotide variant Bethlem myopathy 1A [RCV001365391]|not provided [RCV000309154] Chr2:237395012 [GRCh38]
Chr2:238303655 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6966+4A>C single nucleotide variant Bethlem myopathy 1A [RCV000814755]|not provided [RCV000726503] Chr2:237348345 [GRCh38]
Chr2:238256988 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile) single nucleotide variant Bethlem myopathy 1A [RCV000707187]|not provided [RCV000342572] Chr2:237353354 [GRCh38]
Chr2:238261997 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.774C>T (p.Phe258=) single nucleotide variant Bethlem myopathy 1A [RCV001450620]|not provided [RCV000342629] Chr2:237388120 [GRCh38]
Chr2:238296763 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) single nucleotide variant Bethlem myopathy 1A [RCV000689002]|not provided [RCV000726156] Chr2:237367168 [GRCh38]
Chr2:238275811 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4697C>T (p.Ser1566Leu) single nucleotide variant Bethlem myopathy 1A [RCV001365801]|not provided [RCV000342827] Chr2:237368766 [GRCh38]
Chr2:238277409 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3934G>A (p.Val1312Met) single nucleotide variant Bethlem myopathy 1A [RCV002519336]|not provided [RCV000341791] Chr2:237372083 [GRCh38]
Chr2:238280726 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6210+5G>T single nucleotide variant not provided [RCV000377125] Chr2:237361116 [GRCh38]
Chr2:238269759 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5525G>A (p.Gly1842Glu) single nucleotide variant not provided [RCV000377304] Chr2:237366011 [GRCh38]
Chr2:238274654 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) single nucleotide variant Bethlem myopathy 1A [RCV001329867]|not provided [RCV000378139] Chr2:237378830 [GRCh38]
Chr2:238287473 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) single nucleotide variant Bethlem myopathy 1A [RCV001859710]|not provided [RCV000378475] Chr2:237372180 [GRCh38]
Chr2:238280823 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7030-4C>G single nucleotide variant Bethlem myopathy 1A [RCV001405636]|not provided [RCV000377976] Chr2:237346569 [GRCh38]
Chr2:238255212 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6354+1G>T single nucleotide variant Bethlem myopathy 1A [RCV001859603]|not provided [RCV000305531] Chr2:237359205 [GRCh38]
Chr2:238267848 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr) single nucleotide variant Bethlem myopathy 1A [RCV001232061]|not provided [RCV000274573] Chr2:237367074 [GRCh38]
Chr2:238275717 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) single nucleotide variant Bethlem myopathy 1A [RCV000817700]|Ullrich congenital muscular dystrophy 1A [RCV002227468]|not provided [RCV000494333] Chr2:237361132 [GRCh38]
Chr2:238269775 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9005A>G (p.Glu3002Gly) single nucleotide variant Bethlem myopathy 1A [RCV002521932]|not provided [RCV000276298] Chr2:237334850 [GRCh38]
Chr2:238243493 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3595C>G (p.Gln1199Glu) single nucleotide variant not provided [RCV000276844] Chr2:237374496 [GRCh38]
Chr2:238283139 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1263C>T (p.Gly421=) single nucleotide variant Bethlem myopathy 1A [RCV001082727]|Collagen 6-related myopathy [RCV001137102]|not provided [RCV000309764] Chr2:237387631 [GRCh38]
Chr2:238296274 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) single nucleotide variant Bethlem myopathy 1A [RCV001088130]|not provided [RCV000308404] Chr2:237372318 [GRCh38]
Chr2:238280961 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6180C>T (p.Tyr2060=) single nucleotide variant Bethlem myopathy 1A [RCV001483298]|not provided [RCV000311033] Chr2:237361151 [GRCh38]
Chr2:238269794 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) single nucleotide variant Bethlem myopathy 1A [RCV001360775]|Dystonia 27 [RCV002295296]|not provided [RCV000343076] Chr2:237381050 [GRCh38]
Chr2:238289693 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9459A>G (p.Gly3153=) single nucleotide variant Bethlem myopathy 1A [RCV002059251]|not provided [RCV000344356] Chr2:237325594 [GRCh38]
Chr2:238234237 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1350G>A (p.Val450=) single nucleotide variant Bethlem myopathy 1A [RCV003631106]|not provided [RCV000345310] Chr2:237381462 [GRCh38]
Chr2:238290105 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) indel Bethlem myopathy 1A [RCV001294629]|not provided [RCV000379749] Chr2:237381016..237381017 [GRCh38]
Chr2:238289659..238289660 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) single nucleotide variant Bethlem myopathy 1A [RCV002518881]|COL6A3-related disorder [RCV004547680]|not provided [RCV000379897] Chr2:237372302 [GRCh38]
Chr2:238280945 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5969G>A (p.Arg1990Gln) single nucleotide variant Bethlem myopathy 1A [RCV001203447]|COL6A3-related disorder [RCV004549631]|not provided [RCV000726678]|not specified [RCV000380316] Chr2:237363347 [GRCh38]
Chr2:238271990 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter) single nucleotide variant not provided [RCV000316987] Chr2:237334662 [GRCh38]
Chr2:238243305 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.7461G>A (p.Leu2487=) single nucleotide variant not provided [RCV000278250] Chr2:237344557 [GRCh38]
Chr2:238253200 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del) microsatellite Bethlem myopathy 1A [RCV002518842]|not provided [RCV000311995] Chr2:237395173..237395175 [GRCh38]
Chr2:238303816..238303818 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3810G>T (p.Arg1270=) single nucleotide variant not provided [RCV000310414] Chr2:237372207 [GRCh38]
Chr2:238280850 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu) single nucleotide variant Bethlem myopathy 1A [RCV000815393]|not provided [RCV000312497] Chr2:237348644 [GRCh38]
Chr2:238257287 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2324G>T (p.Cys775Phe) single nucleotide variant not provided [RCV000312880] Chr2:237378809 [GRCh38]
Chr2:238287452 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) single nucleotide variant Bethlem myopathy 1A [RCV001859611]|Collagen 6-related myopathy [RCV001139348]|not provided [RCV000313136]|not specified [RCV004586660] Chr2:237387872 [GRCh38]
Chr2:238296515 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) single nucleotide variant Bethlem myopathy 1A [RCV000653541]|Collagen 6-related myopathy [RCV001138501]|not provided [RCV000344053] Chr2:237334739 [GRCh38]
Chr2:238243382 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.7113C>T (p.Gly2371=) single nucleotide variant Bethlem myopathy 1A [RCV001078911]|not provided [RCV000346340] Chr2:237345193 [GRCh38]
Chr2:238253836 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) single nucleotide variant Bethlem myopathy 1A [RCV001204802]|COL6A3-related disorder [RCV004549630]|not provided [RCV000346399] Chr2:237381310 [GRCh38]
Chr2:238289953 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2864G>A (p.Arg955His) single nucleotide variant Bethlem myopathy 1A [RCV000689418]|not provided [RCV000347536]|not specified [RCV004701369] Chr2:237376978 [GRCh38]
Chr2:238285621 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg) single nucleotide variant Bethlem myopathy 1A [RCV001058460]|not provided [RCV000347608] Chr2:237340940 [GRCh38]
Chr2:238249583 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) single nucleotide variant Bethlem myopathy 1A [RCV001220718]|not provided [RCV000380544] Chr2:237394721 [GRCh38]
Chr2:238303364 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9508G>A (p.Gly3170Arg) single nucleotide variant Bethlem myopathy 1A [RCV001510350]|not provided [RCV000382244] Chr2:237324800 [GRCh38]
Chr2:238233443 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) single nucleotide variant Bethlem myopathy 1A [RCV001082829]|COL6A3-related disorder [RCV004547684]|not provided [RCV000658012]|not specified [RCV003488497] Chr2:237334877 [GRCh38]
Chr2:238243520 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2261A>G (p.Gln754Arg) single nucleotide variant Bethlem myopathy 1A [RCV003517165]|Collagen 6-related myopathy [RCV001136988]|not provided [RCV000382434] Chr2:237378872 [GRCh38]
Chr2:238287515 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5522T>G (p.Leu1841Arg) single nucleotide variant not provided [RCV000278642] Chr2:237366014 [GRCh38]
Chr2:238274657 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) single nucleotide variant Bethlem myopathy 1A [RCV001080968]|Collagen 6-related myopathy [RCV001143144]|not provided [RCV000280233] Chr2:237353377 [GRCh38]
Chr2:238262020 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1961A>G (p.Asn654Ser) single nucleotide variant Bethlem myopathy 1A [RCV001226883]|not provided [RCV000281298] Chr2:237379172 [GRCh38]
Chr2:238287815 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7953G>A (p.Met2651Ile) single nucleotide variant Bethlem myopathy 1A [RCV001078995]|not provided [RCV000313443] Chr2:237340963 [GRCh38]
Chr2:238249606 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3228C>G (p.Thr1076=) single nucleotide variant Bethlem myopathy 1A [RCV002519163]|not provided [RCV000314116] Chr2:237374863 [GRCh38]
Chr2:238283506 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys) single nucleotide variant Bethlem myopathy 1A [RCV000796669]|not provided [RCV000314647] Chr2:237344661 [GRCh38]
Chr2:238253304 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7908T>C (p.Asn2636=) single nucleotide variant not provided [RCV000314898] Chr2:237341008 [GRCh38]
Chr2:238249651 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=) single nucleotide variant Bethlem myopathy 1A [RCV001346967]|not provided [RCV000314936] Chr2:237359248 [GRCh38]
Chr2:238267891 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9096G>C (p.Leu3032=) single nucleotide variant not provided [RCV000348569] Chr2:237334759 [GRCh38]
Chr2:238243402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.804C>G (p.Leu268=) single nucleotide variant not provided [RCV000348585] Chr2:237388090 [GRCh38]
Chr2:238296733 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9209A>G (p.Tyr3070Cys) single nucleotide variant Bethlem myopathy 1A [RCV000689510]|not provided [RCV000349824] Chr2:237334646 [GRCh38]
Chr2:238243289 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro) single nucleotide variant Bethlem myopathy 1A [RCV001346557]|not provided [RCV000384344] Chr2:237333488 [GRCh38]
Chr2:238242131 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3045A>G (p.Ser1015=) single nucleotide variant Bethlem myopathy 1A [RCV001500521]|not provided [RCV000385097] Chr2:237376797 [GRCh38]
Chr2:238285440 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1598G>C (p.Arg533Pro) single nucleotide variant not provided [RCV000386411] Chr2:237381214 [GRCh38]
Chr2:238289857 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val) single nucleotide variant Bethlem myopathy 1A [RCV001059032]|not provided [RCV000334260] Chr2:237361173 [GRCh38]
Chr2:238269816 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.6157-2A>C single nucleotide variant not provided [RCV000336040] Chr2:237361176 [GRCh38]
Chr2:238269819 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) single nucleotide variant Bethlem myopathy 1A [RCV001399694]|COL6A3-related disorder [RCV004737424]|not provided [RCV000282955] Chr2:237344650 [GRCh38]
Chr2:238253293 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.893C>T (p.Thr298Ile) single nucleotide variant Bethlem myopathy 1A [RCV001859687]|not provided [RCV000282428] Chr2:237388001 [GRCh38]
Chr2:238296644 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) single nucleotide variant Bethlem myopathy 1A [RCV001469269]|not provided [RCV000283574] Chr2:237340933 [GRCh38]
Chr2:238249576 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) single nucleotide variant Bethlem myopathy 1A [RCV000765641]|Bethlem myopathy 1A [RCV001451134]|not provided [RCV000315447] Chr2:237365711 [GRCh38]
Chr2:238274354 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003517172]|not provided [RCV000315919] Chr2:237372158 [GRCh38]
Chr2:238280801 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2977A>G (p.Ile993Val) single nucleotide variant not provided [RCV000315993] Chr2:237376865 [GRCh38]
Chr2:238285508 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1120G>A (p.Val374Met) single nucleotide variant Bethlem myopathy 1A [RCV000526526]|not provided [RCV000316225] Chr2:237387774 [GRCh38]
Chr2:238296417 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4844C>A (p.Pro1615His) single nucleotide variant not provided [RCV000316545] Chr2:237368619 [GRCh38]
Chr2:238277262 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.374T>C (p.Ile125Thr) single nucleotide variant not provided [RCV000386801] Chr2:237394922 [GRCh38]
Chr2:238303565 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6066C>T (p.Asp2022=) single nucleotide variant Bethlem myopathy 1A [RCV003631112]|Collagen 6-related myopathy [RCV001138820]|not provided [RCV000386903] Chr2:237361829 [GRCh38]
Chr2:238270472 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1095G>C (p.Gly365=) single nucleotide variant Bethlem myopathy 1A [RCV001442110]|not provided [RCV000387229] Chr2:237387799 [GRCh38]
Chr2:238296442 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) single nucleotide variant Bethlem myopathy 1A [RCV001445695]|not provided [RCV000387686] Chr2:237344428 [GRCh38]
Chr2:238253071 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys) single nucleotide variant Bethlem myopathy 1A [RCV001367298]|not provided [RCV000387745] Chr2:237366795 [GRCh38]
Chr2:238275438 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1088G>A (p.Arg363His) single nucleotide variant Bethlem myopathy 1A [RCV001320693]|not provided [RCV000387918] Chr2:237387806 [GRCh38]
Chr2:238296449 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4524C>G (p.Leu1508=) single nucleotide variant Bethlem myopathy 1A [RCV002518015]|not provided [RCV000388036] Chr2:237368939 [GRCh38]
Chr2:238277582 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6309+1G>T single nucleotide variant Bethlem myopathy 1A [RCV002518040]|Ullrich congenital muscular dystrophy 1A [RCV000760148]|not provided [RCV000337392] Chr2:237359361 [GRCh38]
Chr2:238268004 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.5645C>T (p.Ser1882Leu) single nucleotide variant Bethlem myopathy 1A [RCV001224918]|Inborn genetic diseases [RCV004021269]|not provided [RCV000284088] Chr2:237365891 [GRCh38]
Chr2:238274534 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1939T>A (p.Ser647Thr) single nucleotide variant Bethlem myopathy 1A [RCV002521973]|not provided [RCV000284694] Chr2:237379194 [GRCh38]
Chr2:238287837 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4726C>T (p.Arg1576Trp) single nucleotide variant Bethlem myopathy 1A [RCV001855167]|not provided [RCV000285182] Chr2:237368737 [GRCh38]
Chr2:238277380 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6342G>A (p.Leu2114=) single nucleotide variant Bethlem myopathy 1A [RCV001216269]|not provided [RCV000317135] Chr2:237359218 [GRCh38]
Chr2:238267861 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) single nucleotide variant Bethlem myopathy 1A [RCV003517169]|not provided [RCV000317467] Chr2:237340540 [GRCh38]
Chr2:238249183 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1846A>G (p.Met616Val) single nucleotide variant Inborn genetic diseases [RCV004021262]|not provided [RCV000318756] Chr2:237380966 [GRCh38]
Chr2:238289609 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8966-3C>A single nucleotide variant Bethlem myopathy 1A [RCV000686838]|Ullrich congenital muscular dystrophy 1A [RCV003225058]|not provided [RCV000318990] Chr2:237334892 [GRCh38]
Chr2:238243535 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2367T>A (p.Ile789=) single nucleotide variant not provided [RCV000352899] Chr2:237378766 [GRCh38]
Chr2:238287409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) single nucleotide variant Bethlem myopathy 1A [RCV000625838]|Ullrich congenital muscular dystrophy 1A [RCV003338503]|not provided [RCV000353475] Chr2:237371896 [GRCh38]
Chr2:238280539 [GRCh37]
Chr2:2q37.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly) single nucleotide variant Bethlem myopathy 1A [RCV001859708]|not provided [RCV000354155] Chr2:237340541 [GRCh38]
Chr2:238249184 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8073C>A (p.Asp2691Glu) single nucleotide variant not provided [RCV000389241] Chr2:237340843 [GRCh38]
Chr2:238249486 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5296C>G (p.Leu1766Val) single nucleotide variant not provided [RCV000388192] Chr2:237366891 [GRCh38]
Chr2:238275534 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4678G>A (p.Ala1560Thr) single nucleotide variant Bethlem myopathy 1A [RCV000542185]|Inborn genetic diseases [RCV002519269]|not provided [RCV000389638] Chr2:237368785 [GRCh38]
Chr2:238277428 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6768C>T (p.Ala2256=) single nucleotide variant Bethlem myopathy 1A [RCV001485775]|not provided [RCV000389885] Chr2:237351178 [GRCh38]
Chr2:238259821 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) single nucleotide variant Bethlem myopathy 1A [RCV000692494]|Inborn genetic diseases [RCV004021151]|Ullrich congenital muscular dystrophy 1A [RCV001329868]|not provided [RCV000390311] Chr2:237374892 [GRCh38]
Chr2:238283535 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln) single nucleotide variant Bethlem myopathy 1A [RCV001062536]|not provided [RCV000390521] Chr2:237358567 [GRCh38]
Chr2:238267210 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser) single nucleotide variant Bethlem myopathy 1A [RCV000546975]|not provided [RCV000356761] Chr2:237360150 [GRCh38]
Chr2:238268793 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn) single nucleotide variant Bethlem myopathy 1A [RCV000690120]|not provided [RCV000286153] Chr2:237369139 [GRCh38]
Chr2:238277782 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) single nucleotide variant Bethlem myopathy 1A [RCV000538135]|not provided [RCV000286359] Chr2:237348645 [GRCh38]
Chr2:238257288 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) single nucleotide variant Bethlem myopathy 1A [RCV001454599]|Collagen 6-related myopathy [RCV001143452]|not provided [RCV000725632]|not specified [RCV000286606] Chr2:237374584 [GRCh38]
Chr2:238283227 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2180A>C (p.Tyr727Ser) single nucleotide variant Bethlem myopathy 1A [RCV001246875]|not provided [RCV000286708] Chr2:237378953 [GRCh38]
Chr2:238287596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3141G>C (p.Leu1047Phe) single nucleotide variant not provided [RCV000287238] Chr2:237374950 [GRCh38]
Chr2:238283593 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser) single nucleotide variant Bethlem myopathy 1A [RCV001301947]|not provided [RCV000287686]|not specified [RCV003330620] Chr2:237377317 [GRCh38]
Chr2:238285960 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.552G>A (p.Ala184=) single nucleotide variant Bethlem myopathy 1A [RCV001078852]|not provided [RCV000320121] Chr2:237394744 [GRCh38]
Chr2:238303387 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4425T>C (p.Val1475=) single nucleotide variant Bethlem myopathy 1A [RCV002059313]|not provided [RCV000320275] Chr2:237369038 [GRCh38]
Chr2:238277681 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) single nucleotide variant Bethlem myopathy 1A [RCV001088225]|Collagen 6-related myopathy [RCV001143143]|not provided [RCV000725709]|not specified [RCV000320475] Chr2:237351148 [GRCh38]
Chr2:238259791 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2932G>A (p.Ala978Thr) single nucleotide variant Bethlem myopathy 1A [RCV002518159]|not provided [RCV000354464] Chr2:237376910 [GRCh38]
Chr2:238285553 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1007G>A (p.Arg336Gln) single nucleotide variant Bethlem myopathy 1A [RCV001224663]|not provided [RCV000354532] Chr2:237387887 [GRCh38]
Chr2:238296530 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val) single nucleotide variant Bethlem myopathy 1A [RCV003631107]|not provided [RCV000392750] Chr2:237341148 [GRCh38]
Chr2:238249791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter) single nucleotide variant not provided [RCV000432500] Chr2:237347812 [GRCh38]
Chr2:238256455 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln) single nucleotide variant Bethlem myopathy 1A [RCV001210807]|not provided [RCV000288939] Chr2:237366962 [GRCh38]
Chr2:238275605 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) single nucleotide variant Bethlem myopathy 1A [RCV000653522]|Bethlem myopathy 1A [RCV001824721]|Collagen 6-related myopathy [RCV001139021]|not provided [RCV000725141] Chr2:237372115 [GRCh38]
Chr2:238280758 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=) single nucleotide variant Bethlem myopathy 1A [RCV003631115]|not provided [RCV000288253] Chr2:237350147 [GRCh38]
Chr2:238258790 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.34G>T (p.Val12Phe) single nucleotide variant not provided [RCV000321460] Chr2:237396784 [GRCh38]
Chr2:238305427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7480G>T (p.Val2494Leu) single nucleotide variant not provided [RCV000321712] Chr2:237344538 [GRCh38]
Chr2:238253181 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9494-5C>T single nucleotide variant Bethlem myopathy 1A [RCV003631110]|not provided [RCV000320923] Chr2:237324819 [GRCh38]
Chr2:238233462 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6930+4C>T single nucleotide variant Bethlem myopathy 1A [RCV000550179]|Collagen 6-related myopathy [RCV001141289]|not provided [RCV000725202] Chr2:237348609 [GRCh38]
Chr2:238257252 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8140G>T (p.Ala2714Ser) single nucleotide variant Bethlem myopathy 1A [RCV003517177]|not provided [RCV000356934] Chr2:237340776 [GRCh38]
Chr2:238249419 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1077T>C (p.Ser359=) single nucleotide variant Bethlem myopathy 1A [RCV001502089]|not provided [RCV000357041] Chr2:237387817 [GRCh38]
Chr2:238296460 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=) single nucleotide variant Bethlem myopathy 1A [RCV000559385]|COL6A3-related disorder [RCV004549594]|not provided [RCV000357287] Chr2:237324810 [GRCh38]
Chr2:238233453 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6769G>A (p.Ala2257Thr) single nucleotide variant Bethlem myopathy 1A [RCV000536787]|not provided [RCV000726233]|not specified [RCV000357364] Chr2:237351177 [GRCh38]
Chr2:238259820 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8032G>A (p.Ala2678Thr) single nucleotide variant not provided [RCV000357453] Chr2:237340884 [GRCh38]
Chr2:238249527 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1065C>T (p.Ala355=) single nucleotide variant Bethlem myopathy 1A [RCV001088083]|Collagen 6-related myopathy [RCV001139347]|Dystonia 27 [RCV002298566]|Inborn genetic diseases [RCV004021258]|not provided [RCV000356610] Chr2:237387829 [GRCh38]
Chr2:238296472 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe) single nucleotide variant Bethlem myopathy 1A [RCV001850460]|not provided [RCV000357722] Chr2:237372257 [GRCh38]
Chr2:238280900 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9130G>A (p.Val3044Ile) single nucleotide variant Bethlem myopathy 1A [RCV001242146]|Inborn genetic diseases [RCV003165732]|not provided [RCV000356914] Chr2:237334725 [GRCh38]
Chr2:238243368 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6237C>T (p.Asn2079=) single nucleotide variant Bethlem myopathy 1A [RCV001434033]|not provided [RCV000393006] Chr2:237360133 [GRCh38]
Chr2:238268776 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6354+1G>A single nucleotide variant Bethlem myopathy 1A [RCV000319175]|Bethlem myopathy 1A [RCV001249572]|Inborn genetic diseases [RCV000622451]|not provided [RCV000578834] Chr2:237359205 [GRCh38]
Chr2:238267848 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_004369.4(COL6A3):c.6289C>T (p.Arg2097Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653544]|not provided [RCV000290353] Chr2:237359382 [GRCh38]
Chr2:238268025 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631111]|Collagen 6-related myopathy [RCV001138288]|not provided [RCV000290454] Chr2:237344460 [GRCh38]
Chr2:238253103 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5118C>T (p.Ile1706=) single nucleotide variant Bethlem myopathy 1A [RCV002521938]|not provided [RCV000290715] Chr2:237367069 [GRCh38]
Chr2:238275712 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6040G>T (p.Asp2014Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001850464]|not provided [RCV000290851] Chr2:237363276 [GRCh38]
Chr2:238271919 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7114G>A (p.Asp2372Asn) single nucleotide variant Bethlem myopathy 1A [RCV000653586]|not provided [RCV000291486] Chr2:237345192 [GRCh38]
Chr2:238253835 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) single nucleotide variant Bethlem myopathy 1A [RCV001078645]|not provided [RCV000726454] Chr2:237368786 [GRCh38]
Chr2:238277429 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7728C>T (p.Asp2576=) single nucleotide variant not provided [RCV000292270] Chr2:237342102 [GRCh38]
Chr2:238250745 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3501C>T (p.Ile1167=) single nucleotide variant Bethlem myopathy 1A [RCV002059193]|not provided [RCV000324842] Chr2:237374590 [GRCh38]
Chr2:238283233 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7173C>T (p.Tyr2391=) single nucleotide variant Bethlem myopathy 1A [RCV001088226]|Collagen 6-related myopathy [RCV001138707]|not provided [RCV000324903] Chr2:237344942 [GRCh38]
Chr2:238253585 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) single nucleotide variant Bethlem myopathy 1A [RCV002059073]|not provided [RCV000724849]|not specified [RCV000325567] Chr2:237372165 [GRCh38]
Chr2:238280808 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5575G>A (p.Glu1859Lys) single nucleotide variant Bethlem myopathy 1A [RCV001855157]|Inborn genetic diseases [RCV003278739]|not provided [RCV000360053] Chr2:237365961 [GRCh38]
Chr2:238274604 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.709+8C>T single nucleotide variant Bethlem myopathy 1A [RCV000765647]|Bethlem myopathy 1A [RCV001319110]|not provided [RCV000726202] Chr2:237394579 [GRCh38]
Chr2:238303222 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe) single nucleotide variant Bethlem myopathy 1A [RCV001855147]|not provided [RCV000394842] Chr2:237371876 [GRCh38]
Chr2:238280519 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys) single nucleotide variant Bethlem myopathy 1A [RCV001855192]|not provided [RCV000396182] Chr2:237376979 [GRCh38]
Chr2:238285622 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5607C>T (p.Ile1869=) single nucleotide variant Bethlem myopathy 1A [RCV001470091]|not provided [RCV000395734] Chr2:237365929 [GRCh38]
Chr2:238274572 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4603C>T (p.Arg1535Cys) single nucleotide variant Bethlem myopathy 1A [RCV001368271]|Inborn genetic diseases [RCV004021271]|not provided [RCV000396913] Chr2:237368860 [GRCh38]
Chr2:238277503 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9117G>A (p.Thr3039=) single nucleotide variant Bethlem myopathy 1A [RCV002518863]|not provided [RCV000259559] Chr2:237334738 [GRCh38]
Chr2:238243381 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3680-4G>A single nucleotide variant Bethlem myopathy 1A [RCV001085487]|not provided [RCV000292297] Chr2:237372341 [GRCh38]
Chr2:238280984 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1327A>G (p.Lys443Glu) single nucleotide variant not provided [RCV000291193] Chr2:237381485 [GRCh38]
Chr2:238290128 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6897C>T (p.Asp2299=) single nucleotide variant Bethlem myopathy 1A [RCV002518948]|not provided [RCV000326108] Chr2:237348646 [GRCh38]
Chr2:238257289 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4257C>G (p.Leu1419=) single nucleotide variant not provided [RCV000326185] Chr2:237371760 [GRCh38]
Chr2:238280403 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.11A>T (p.His4Leu) single nucleotide variant Bethlem myopathy 1A [RCV001320936]|COL6A3-related disorder [RCV004725138]|not provided [RCV000326714] Chr2:237396807 [GRCh38]
Chr2:238305450 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3462C>T (p.Val1154=) single nucleotide variant Bethlem myopathy 1A [RCV002518055]|not provided [RCV000361328] Chr2:237374629 [GRCh38]
Chr2:238283272 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.861C>T (p.Ser287=) single nucleotide variant Bethlem myopathy 1A [RCV000531080]|not provided [RCV000361347] Chr2:237388033 [GRCh38]
Chr2:238296676 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8428A>C (p.Met2810Leu) single nucleotide variant Inborn genetic diseases [RCV004021217]|not provided [RCV000361558] Chr2:237340488 [GRCh38]
Chr2:238249131 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9394C>T (p.Pro3132Ser) single nucleotide variant Bethlem myopathy 1A [RCV001228671]|Collagen 6-related myopathy [RCV001142818]|Inborn genetic diseases [RCV004021189]|not provided [RCV000361739] Chr2:237325659 [GRCh38]
Chr2:238234302 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) single nucleotide variant Bethlem myopathy 1A [RCV001087097]|not provided [RCV000362415] Chr2:237366793 [GRCh38]
Chr2:238275436 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7045C>T (p.Pro2349Ser) single nucleotide variant not provided [RCV000362945] Chr2:237346550 [GRCh38]
Chr2:238255193 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8744C>T (p.Ala2915Val) single nucleotide variant Bethlem myopathy 1A [RCV000707162]|not provided [RCV000726172] Chr2:237336356 [GRCh38]
Chr2:238244999 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1370G>T (p.Gly457Val) single nucleotide variant Bethlem myopathy 1A [RCV003765657]|not provided [RCV000397876] Chr2:237381442 [GRCh38]
Chr2:238290085 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4448A>T (p.Asp1483Val) single nucleotide variant Bethlem myopathy 1A [RCV001041627]|not provided [RCV000396878] Chr2:237369015 [GRCh38]
Chr2:238277658 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) single nucleotide variant Bethlem myopathy 1A [RCV001236572]|Bethlem myopathy 1A [RCV002487261]|not provided [RCV000726253]|not specified [RCV004701390] Chr2:237340680 [GRCh38]
Chr2:238249323 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.252C>T (p.Asn84=) single nucleotide variant Bethlem myopathy 1A [RCV001438130]|not provided [RCV000399566] Chr2:237395044 [GRCh38]
Chr2:238303687 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu) single nucleotide variant Bethlem myopathy 1A [RCV000546967]|not provided [RCV000399668] Chr2:237325602 [GRCh38]
Chr2:238234245 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6519C>T (p.Thr2173=) single nucleotide variant Bethlem myopathy 1A [RCV001467177]|not provided [RCV000262259] Chr2:237357835 [GRCh38]
Chr2:238266478 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln) single nucleotide variant Bethlem myopathy 1A [RCV001337957]|not provided [RCV000262379] Chr2:237363323 [GRCh38]
Chr2:238271966 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2497+9C>A single nucleotide variant Bethlem myopathy 1A [RCV001401446]|not provided [RCV000726196]|not specified [RCV000261660] Chr2:237378627 [GRCh38]
Chr2:238287270 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5522T>C (p.Leu1841Pro) single nucleotide variant not provided [RCV000262607] Chr2:237366014 [GRCh38]
Chr2:238274657 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7754A>G (p.His2585Arg) single nucleotide variant not provided [RCV000262992] Chr2:237342076 [GRCh38]
Chr2:238250719 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5085C>G (p.Asp1695Glu) single nucleotide variant not provided [RCV000295024] Chr2:237367102 [GRCh38]
Chr2:238275745 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.290G>A (p.Arg97His) single nucleotide variant Bethlem myopathy 1A [RCV000808592]|Inborn genetic diseases [RCV002518832]|not provided [RCV000295547] Chr2:237395006 [GRCh38]
Chr2:238303649 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) single nucleotide variant Bethlem myopathy 1A [RCV001080018]|COL6A3-related disorder [RCV004547707]|not provided [RCV000725768]|not specified [RCV000295669] Chr2:237361763 [GRCh38]
Chr2:238270406 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3419C>T (p.Thr1140Met) single nucleotide variant Bethlem myopathy 1A [RCV001081807]|not provided [RCV000658902]|not specified [RCV000294987] Chr2:237374672 [GRCh38]
Chr2:238283315 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) single nucleotide variant Bethlem myopathy 1A [RCV001297098]|not provided [RCV000296043] Chr2:237372073 [GRCh38]
Chr2:238280716 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) single nucleotide variant Bethlem myopathy 1A [RCV000556243]|not provided [RCV000327744] Chr2:237342081 [GRCh38]
Chr2:238250724 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2232G>A (p.Pro744=) single nucleotide variant Bethlem myopathy 1A [RCV002521934]|not provided [RCV000327187] Chr2:237378901 [GRCh38]
Chr2:238287544 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) single nucleotide variant Bethlem myopathy 1A [RCV001088627]|not provided [RCV000328502] Chr2:237336209 [GRCh38]
Chr2:238244852 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6640G>A (p.Gly2214Ser) single nucleotide variant Bethlem myopathy 1A [RCV000804148]|not provided [RCV000328508] Chr2:237353391 [GRCh38]
Chr2:238262034 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7174G>A (p.Gly2392Arg) single nucleotide variant Bethlem myopathy 1A [RCV001054907]|not provided [RCV000329071] Chr2:237344941 [GRCh38]
Chr2:238253584 [GRCh37]
Chr2:2q37.3		 likely pathogenic|likely benign|uncertain significance
NM_004369.4(COL6A3):c.9358A>C (p.Thr3120Pro) single nucleotide variant Bethlem myopathy 1A [RCV000795886]|COL6A3-related disorder [RCV004547678]|not provided [RCV000329137] Chr2:237325695 [GRCh38]
Chr2:238234338 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3008G>A (p.Gly1003Glu) single nucleotide variant Bethlem myopathy 1A [RCV001048907]|not provided [RCV000329391] Chr2:237376834 [GRCh38]
Chr2:238285477 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) single nucleotide variant Bethlem myopathy 1A [RCV000804022]|not provided [RCV000658346] Chr2:237394589 [GRCh38]
Chr2:238303232 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1214T>C (p.Phe405Ser) single nucleotide variant Bethlem myopathy 1A [RCV001083457]|not provided [RCV000363238] Chr2:237387680 [GRCh38]
Chr2:238296323 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3841A>G (p.Lys1281Glu) single nucleotide variant Bethlem myopathy 1A [RCV001855209]|not provided [RCV000364187] Chr2:237372176 [GRCh38]
Chr2:238280819 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8865C>T (p.Pro2955=) single nucleotide variant Bethlem myopathy 1A [RCV001398383]|Collagen 6-related myopathy [RCV001141063]|not provided [RCV000365325] Chr2:237336235 [GRCh38]
Chr2:238244878 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile) single nucleotide variant Bethlem myopathy 1A [RCV001349156]|not provided [RCV000365388] Chr2:237374853 [GRCh38]
Chr2:238283496 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu) single nucleotide variant not provided [RCV000365481]|not specified [RCV003479095] Chr2:237377335 [GRCh38]
Chr2:238285978 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5378G>A (p.Ser1793Asn) single nucleotide variant not provided [RCV000400153] Chr2:237366809 [GRCh38]
Chr2:238275452 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg) single nucleotide variant Bethlem myopathy 1A [RCV002298561]|not provided [RCV000398952] Chr2:237357821 [GRCh38]
Chr2:238266464 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) single nucleotide variant Bethlem myopathy 1A [RCV001855207]|not provided [RCV000400427] Chr2:237367203 [GRCh38]
Chr2:238275846 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5822C>T (p.Ser1941Leu) single nucleotide variant Bethlem myopathy 1A [RCV002521927]|not provided [RCV000400649] Chr2:237365714 [GRCh38]
Chr2:238274357 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.107C>T (p.Ala36Val) single nucleotide variant Bethlem myopathy 1A [RCV000653565]|not provided [RCV000401106] Chr2:237395189 [GRCh38]
Chr2:238303832 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8270G>C (p.Arg2757Thr) single nucleotide variant Bethlem myopathy 1A [RCV001360027]|Collagen 6-related myopathy [RCV001138189]|Inborn genetic diseases [RCV003372676]|not provided [RCV000401683] Chr2:237340646 [GRCh38]
Chr2:238249289 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) single nucleotide variant Bethlem myopathy 1A [RCV001248460]|Collagen 6-related myopathy [RCV000267523] Chr2:237342139 [GRCh38]
Chr2:238250782 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1087C>T (p.Arg363Cys) single nucleotide variant Bethlem myopathy 1A [RCV001312761]|not provided [RCV000263531] Chr2:237387807 [GRCh38]
Chr2:238296450 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr) single nucleotide variant Bethlem myopathy 1A [RCV001235246]|not provided [RCV000264026] Chr2:237394592 [GRCh38]
Chr2:238303235 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7777A>T (p.Ile2593Phe) single nucleotide variant Bethlem myopathy 1A [RCV001317420]|not provided [RCV000264469] Chr2:237341139 [GRCh38]
Chr2:238249782 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) single nucleotide variant Bethlem myopathy 1A [RCV000548137]|not provided [RCV000726602] Chr2:237340608 [GRCh38]
Chr2:238249251 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5839-3C>T single nucleotide variant Bethlem myopathy 1A [RCV000556869]|COL6A3-related disorder [RCV004547672]|Collagen 6-related myopathy [RCV001138822]|Muscular dystrophy [RCV000993847]|not provided [RCV000725144] Chr2:237364431 [GRCh38]
Chr2:238273074 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7832C>T (p.Ala2611Val) single nucleotide variant Bethlem myopathy 1A [RCV001068819]|Collagen 6-related myopathy [RCV001141187]|not provided [RCV000265030] Chr2:237341084 [GRCh38]
Chr2:238249727 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4431C>T (p.Val1477=) single nucleotide variant Bethlem myopathy 1A [RCV001087823]|not provided [RCV000296132] Chr2:237369032 [GRCh38]
Chr2:238277675 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=) single nucleotide variant Bethlem myopathy 1A [RCV001486632]|not provided [RCV000296563] Chr2:237368801 [GRCh38]
Chr2:238277444 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=) single nucleotide variant Bethlem myopathy 1A [RCV001089111]|not provided [RCV000726066] Chr2:237325609 [GRCh38]
Chr2:238234252 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.6255G>A (p.Gln2085=) single nucleotide variant Bethlem myopathy 1A [RCV002059263]|not provided [RCV000297272] Chr2:237360115 [GRCh38]
Chr2:238268758 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) single nucleotide variant Bethlem myopathy 1A [RCV002059243]|not provided [RCV000298319] Chr2:237394858 [GRCh38]
Chr2:238303501 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) single nucleotide variant Bethlem myopathy 1A [RCV002059143]|COL6A3-related disorder [RCV004547685]|not provided [RCV000330418] Chr2:237340660 [GRCh38]
Chr2:238249303 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8359G>A (p.Ala2787Thr) single nucleotide variant Abnormality of the vertebral column [RCV000735335]|Bethlem myopathy 1A [RCV000820442]|not provided [RCV000330793] Chr2:237340557 [GRCh38]
Chr2:238249200 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1587A>G (p.Leu529=) single nucleotide variant Bethlem myopathy 1A [RCV000873074]|not specified [RCV000331067] Chr2:237381225 [GRCh38]
Chr2:238289868 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7264C>G (p.Arg2422Gly) single nucleotide variant not provided [RCV000331230] Chr2:237344754 [GRCh38]
Chr2:238253397 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3754C>T (p.Arg1252Cys) single nucleotide variant Bethlem myopathy 1A [RCV001064513]|not provided [RCV000365975] Chr2:237372263 [GRCh38]
Chr2:238280906 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6817-6G>A single nucleotide variant Bethlem myopathy 1A [RCV003631103]|not provided [RCV000364851] Chr2:237350215 [GRCh38]
Chr2:238258858 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) microsatellite Bethlem myopathy 1A [RCV001058359]|not provided [RCV000366420] Chr2:237336220..237336221 [GRCh38]
Chr2:238244863..238244864 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) single nucleotide variant Bethlem myopathy 1A [RCV001392733]|not provided [RCV000726378]|not specified [RCV000366529] Chr2:237381027 [GRCh38]
Chr2:238289670 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5953G>A (p.Val1985Met) single nucleotide variant Bethlem myopathy 1A [RCV000653516]|not provided [RCV000367029] Chr2:237363363 [GRCh38]
Chr2:238272006 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val) single nucleotide variant Bethlem myopathy 1A [RCV001056025]|not provided [RCV000367034] Chr2:237394704 [GRCh38]
Chr2:238303347 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) single nucleotide variant Bethlem myopathy 1A [RCV001084883]|COL6A3-related disorder [RCV004547686]|not provided [RCV000367299] Chr2:237344373 [GRCh38]
Chr2:238253016 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.936C>T (p.Leu312=) single nucleotide variant Bethlem myopathy 1A [RCV001079095]|not provided [RCV000402653] Chr2:237387958 [GRCh38]
Chr2:238296601 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4423G>T (p.Val1475Phe) single nucleotide variant not provided [RCV000264365] Chr2:237369040 [GRCh38]
Chr2:238277683 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn) single nucleotide variant Bethlem myopathy 1A [RCV003517175]|not provided [RCV000266573] Chr2:237374522 [GRCh38]
Chr2:238283165 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.843G>T (p.Val281=) single nucleotide variant Bethlem myopathy 1A [RCV001079541]|not provided [RCV000267201] Chr2:237388051 [GRCh38]
Chr2:238296694 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1394G>A (p.Arg465Gln) single nucleotide variant Bethlem myopathy 1A [RCV001228546]|not provided [RCV000298554] Chr2:237381418 [GRCh38]
Chr2:238290061 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) single nucleotide variant Bethlem myopathy 1A [RCV001859678]|not provided [RCV000726169]|not specified [RCV000299325] Chr2:237378937 [GRCh38]
Chr2:238287580 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4227G>A (p.Thr1409=) single nucleotide variant Bethlem myopathy 1A [RCV002521962]|not provided [RCV000299699] Chr2:237371790 [GRCh38]
Chr2:238280433 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.415G>A (p.Gly139Ser) single nucleotide variant not provided [RCV000300016] Chr2:237394881 [GRCh38]
Chr2:238303524 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) deletion Bethlem myopathy 1A [RCV000539312]|not provided [RCV000332703] Chr2:237387994..237387996 [GRCh38]
Chr2:238296637..238296639 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) single nucleotide variant Bethlem myopathy 1A [RCV001087869]|COL6A3-related disorder [RCV004547695]|Collagen 6-related myopathy [RCV001141186]|not provided [RCV000333005] Chr2:237341067 [GRCh38]
Chr2:238249710 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=) single nucleotide variant Bethlem myopathy 1A [RCV001434550]|COL6A3-related disorder [RCV004547668]|not provided [RCV000332151] Chr2:237374536 [GRCh38]
Chr2:238283179 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys) single nucleotide variant Bethlem myopathy 1A [RCV001299913]|not provided [RCV000333885] Chr2:237395108 [GRCh38]
Chr2:238303751 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653597]|Bethlem myopathy 1A [RCV000765645]|Collagen 6-related myopathy [RCV001136882]|not provided [RCV000726400] Chr2:237374868 [GRCh38]
Chr2:238283511 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.7513G>A (p.Gly2505Arg) single nucleotide variant Bethlem myopathy 1A [RCV000696056]|not provided [RCV000333171] Chr2:237344505 [GRCh38]
Chr2:238253148 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) single nucleotide variant Bethlem myopathy 1A [RCV000765644]|Bethlem myopathy 1A [RCV002518954]|not provided [RCV000367831] Chr2:237374592 [GRCh38]
Chr2:238283235 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) single nucleotide variant Bethlem myopathy 1A [RCV003517166]|Ullrich congenital muscular dystrophy 1A [RCV003338499]|not provided [RCV000404446] Chr2:237365946 [GRCh38]
Chr2:238274589 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1217G>A (p.Arg406His) single nucleotide variant Bethlem myopathy 1A [RCV001855121]|not provided [RCV000404558] Chr2:237387677 [GRCh38]
Chr2:238296320 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr) single nucleotide variant Bethlem myopathy 1A [RCV001219825]|not provided [RCV000404646] Chr2:237347863 [GRCh38]
Chr2:238256506 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1035G>A (p.Gly345=) single nucleotide variant not provided [RCV000405180] Chr2:237387859 [GRCh38]
Chr2:238296502 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8161T>G (p.Tyr2721Asp) single nucleotide variant not provided [RCV000405330] Chr2:237340755 [GRCh38]
Chr2:238249398 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5649C>A (p.Pro1883=) single nucleotide variant Bethlem myopathy 1A [RCV002518132]|not provided [RCV000406536] Chr2:237365887 [GRCh38]
Chr2:238274530 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu) single nucleotide variant Bethlem myopathy 1A [RCV002518036]|not provided [RCV000267051] Chr2:237379103 [GRCh38]
Chr2:238287746 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7029+3A>G single nucleotide variant Bethlem myopathy 1A [RCV001035402]|COL6A3-related disorder [RCV004549623]|not provided [RCV000298791] Chr2:237347804 [GRCh38]
Chr2:238256447 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) single nucleotide variant Bethlem myopathy 1A [RCV001475458]|not provided [RCV000724641]|not specified [RCV000335355] Chr2:237378790 [GRCh38]
Chr2:238287433 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7575G>A (p.Gln2525=) single nucleotide variant Bethlem myopathy 1A [RCV000653618]|not provided [RCV000335987] Chr2:237344443 [GRCh38]
Chr2:238253086 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) single nucleotide variant Bethlem myopathy 1A [RCV001423324]|not provided [RCV000336229] Chr2:237344467 [GRCh38]
Chr2:238253110 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg) single nucleotide variant Bethlem myopathy 1A [RCV001340582]|not provided [RCV000336512] Chr2:237342143 [GRCh38]
Chr2:238250786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3755G>A (p.Arg1252His) single nucleotide variant Bethlem myopathy 1A [RCV001068738]|not provided [RCV000370349] Chr2:237372262 [GRCh38]
Chr2:238280905 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2909C>G (p.Pro970Arg) single nucleotide variant not provided [RCV000369784] Chr2:237376933 [GRCh38]
Chr2:238285576 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.273C>T (p.Phe91=) single nucleotide variant not provided [RCV000371854] Chr2:237395023 [GRCh38]
Chr2:238303666 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5680C>T (p.Pro1894Ser) single nucleotide variant Bethlem myopathy 1A [RCV000701359]|not provided [RCV000406654] Chr2:237365856 [GRCh38]
Chr2:238274499 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2219G>A (p.Arg740His) single nucleotide variant Bethlem myopathy 1A [RCV000793471]|not provided [RCV000406679] Chr2:237378914 [GRCh38]
Chr2:238287557 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=) single nucleotide variant Bethlem myopathy 1A [RCV000548245]|COL6A3-related disorder [RCV004547706]|not provided [RCV000407676] Chr2:237368953 [GRCh38]
Chr2:238277596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) single nucleotide variant Bethlem myopathy 1A [RCV001067747]|not provided [RCV000407729] Chr2:237364359 [GRCh38]
Chr2:238273002 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.*754T>A single nucleotide variant Collagen 6-related myopathy [RCV000269253] Chr2:237324020 [GRCh38]
Chr2:238232663 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6075C>T (p.Ala2025=) single nucleotide variant Bethlem myopathy 1A [RCV001477705]|not provided [RCV000584899] Chr2:237361820 [GRCh38]
Chr2:238270463 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6045T>C (p.Tyr2015=) single nucleotide variant Bethlem myopathy 1A [RCV001399239]|not provided [RCV000597564] Chr2:237363271 [GRCh38]
Chr2:238271914 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu) single nucleotide variant Bethlem myopathy 1A [RCV000531575] Chr2:237334768 [GRCh38]
Chr2:238243411 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2179T>C (p.Tyr727His) single nucleotide variant Inborn genetic diseases [RCV003269810] Chr2:237378954 [GRCh38]
Chr2:238287597 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8846C>T (p.Pro2949Leu) single nucleotide variant Bethlem myopathy 1A [RCV000804675]|not provided [RCV000598205] Chr2:237336254 [GRCh38]
Chr2:238244897 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1605C>T (p.Asn535=) single nucleotide variant Bethlem myopathy 1A [RCV002065139]|not provided [RCV000598223] Chr2:237381207 [GRCh38]
Chr2:238289850 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val) single nucleotide variant not provided [RCV000489274] Chr2:237360122 [GRCh38]
Chr2:238268765 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1897+159G>T single nucleotide variant not provided [RCV001564569] Chr2:237380756 [GRCh38]
Chr2:238289399 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter) single nucleotide variant not provided [RCV000489792] Chr2:237388145 [GRCh38]
Chr2:238296788 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3668T>C (p.Leu1223Pro) single nucleotide variant Bethlem myopathy 1A [RCV000821173]|not provided [RCV000487720]|not specified [RCV001731716] Chr2:237374423 [GRCh38]
Chr2:238283066 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser) single nucleotide variant not provided [RCV000597877] Chr2:237360132 [GRCh38]
Chr2:238268775 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3549C>G (p.Asp1183Glu) single nucleotide variant Bethlem myopathy 1A [RCV000821825]|not provided [RCV000488005] Chr2:237374542 [GRCh38]
Chr2:238283185 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5917+92C>T single nucleotide variant not provided [RCV001567761] Chr2:237364258 [GRCh38]
Chr2:238272901 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3598G>T (p.Val1200Phe) single nucleotide variant Bethlem myopathy 1A [RCV000688426]|not provided [RCV000522488] Chr2:237374493 [GRCh38]
Chr2:238283136 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) single nucleotide variant Bethlem myopathy 1A [RCV001440482]|not provided [RCV000595007] Chr2:237387814 [GRCh38]
Chr2:238296457 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4254G>A (p.Lys1418=) single nucleotide variant Bethlem myopathy 1A [RCV001428280]|not provided [RCV000488062] Chr2:237371763 [GRCh38]
Chr2:238280406 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.-30-210TATC[14] microsatellite not provided [RCV001547847] Chr2:237397017..237397018 [GRCh38]
Chr2:238305660..238305661 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3650_3651delinsTT (p.Gln1217Leu) indel not provided [RCV002286898] Chr2:237374440..237374441 [GRCh38]
Chr2:238283083..238283084 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4596G>A (p.Ala1532=) single nucleotide variant Bethlem myopathy 1A [RCV003114614]|not provided [RCV000490043] Chr2:237368867 [GRCh38]
Chr2:238277510 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8924C>T (p.Ala2975Val) single nucleotide variant Bethlem myopathy 1A [RCV001234893]|not provided [RCV000596369] Chr2:237336176 [GRCh38]
Chr2:238244819 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1829C>T (p.Ala610Val) single nucleotide variant not provided [RCV000596409] Chr2:237380983 [GRCh38]
Chr2:238289626 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4240G>C (p.Glu1414Gln) single nucleotide variant Bethlem myopathy 1A [RCV000821801]|not provided [RCV000488365] Chr2:237371777 [GRCh38]
Chr2:238280420 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631133]|not provided [RCV000596557] Chr2:237371783 [GRCh38]
Chr2:238280426 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) single nucleotide variant Bethlem myopathy 1A [RCV001421658]|not provided [RCV000596823]|not specified [RCV004586815] Chr2:237367039 [GRCh38]
Chr2:238275682 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3795C>A (p.Gly1265=) single nucleotide variant Bethlem myopathy 1A [RCV001473234]|Collagen 6-related myopathy [RCV000346151] Chr2:237372222 [GRCh38]
Chr2:238280865 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7649A>C (p.Gln2550Pro) single nucleotide variant Collagen 6-related myopathy [RCV000363519] Chr2:237344369 [GRCh38]
Chr2:238253012 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4271G>A (p.Arg1424His) single nucleotide variant Bethlem myopathy 1A [RCV000791572]|not provided [RCV000596949] Chr2:237371746 [GRCh38]
Chr2:238280389 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2808C>T (p.Ile936=) single nucleotide variant Bethlem myopathy 1A [RCV001429142]|not provided [RCV000596982] Chr2:237377034 [GRCh38]
Chr2:238285677 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.*90C>T single nucleotide variant Collagen 6-related myopathy [RCV000317763] Chr2:237324684 [GRCh38]
Chr2:238233327 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln) single nucleotide variant Bethlem myopathy 1A [RCV001854081]|not provided [RCV000597292] Chr2:237344753 [GRCh38]
Chr2:238253396 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8050A>C (p.Lys2684Gln) single nucleotide variant Bethlem myopathy 1A [RCV001314534]|Collagen 6-related myopathy [RCV000388647] Chr2:237340866 [GRCh38]
Chr2:238249509 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) single nucleotide variant Bethlem myopathy 1A [RCV001853954]|COL6A3-related disorder [RCV004553303]|not provided [RCV000585379] Chr2:237350193 [GRCh38]
Chr2:238258836 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6211-23_6211-14delinsTTTTGC indel Collagen 6-related myopathy [RCV000323497] Chr2:237360173..237360182 [GRCh38]
Chr2:238268816..238268825 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2206G>A (p.Gly736Ser) single nucleotide variant Bethlem myopathy 1A [RCV000530306]|Collagen 6-related myopathy [RCV003329167]|not provided [RCV000732713]|not specified [RCV004586793] Chr2:237378927 [GRCh38]
Chr2:238287570 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs) deletion Bethlem myopathy 1A [RCV001048166]|not provided [RCV000295410] Chr2:237341119..237341120 [GRCh38]
Chr2:238249762..238249763 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6175G>T (p.Gly2059Cys) single nucleotide variant not provided [RCV000306136] Chr2:237361156 [GRCh38]
Chr2:238269799 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5646G>T (p.Ser1882=) single nucleotide variant Bethlem myopathy 1A [RCV000653645]|Collagen 6-related myopathy [RCV000356116] Chr2:237365890 [GRCh38]
Chr2:238274533 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2253A>G (p.Thr751=) single nucleotide variant Collagen 6-related myopathy [RCV000312857] Chr2:237378880 [GRCh38]
Chr2:238287523 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5393G>A (p.Arg1798His) single nucleotide variant Bethlem myopathy 1A [RCV000792561]|Collagen 6-related myopathy [RCV001143252]|not provided [RCV000727271] Chr2:237366794 [GRCh38]
Chr2:238275437 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.6310-28_6325del deletion Bethlem myopathy 1A [RCV000810824]|not provided [RCV000596147] Chr2:237359235..237359278 [GRCh38]
Chr2:238267878..238267921 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.6036C>T (p.Asp2012=) single nucleotide variant Bethlem myopathy 1A [RCV000983188]|not specified [RCV000601028] Chr2:237363280 [GRCh38]
Chr2:238271923 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1898-5T>C single nucleotide variant Bethlem myopathy 1A [RCV001501789]|not provided [RCV000598458] Chr2:237379240 [GRCh38]
Chr2:238287883 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser) single nucleotide variant Bethlem myopathy 1A [RCV003517234]|not provided [RCV000598485] Chr2:237376775 [GRCh38]
Chr2:238285418 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5555T>C (p.Phe1852Ser) single nucleotide variant Bethlem myopathy 1A [RCV001078890]|Inborn genetic diseases [RCV004024742]|not provided [RCV000591644] Chr2:237365981 [GRCh38]
Chr2:238274624 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8698A>G (p.Ile2900Val) single nucleotide variant not provided [RCV000592234] Chr2:237336402 [GRCh38]
Chr2:238245045 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8794C>T (p.Pro2932Ser) single nucleotide variant Bethlem myopathy 1A [RCV001325100]|not provided [RCV000592270] Chr2:237336306 [GRCh38]
Chr2:238244949 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3894G>A (p.Ala1298=) single nucleotide variant Bethlem myopathy 1A [RCV001504671]|not provided [RCV000592283] Chr2:237372123 [GRCh38]
Chr2:238280766 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1514A>T (p.Lys505Ile) single nucleotide variant not provided [RCV000591817] Chr2:237381298 [GRCh38]
Chr2:238289941 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7879G>A (p.Ala2627Thr) single nucleotide variant Bethlem myopathy 1A [RCV001217460]|not provided [RCV000591870] Chr2:237341037 [GRCh38]
Chr2:238249680 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6064-2A>G single nucleotide variant not provided [RCV000592301] Chr2:237361833 [GRCh38]
Chr2:238270476 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5924G>T (p.Arg1975Leu) single nucleotide variant Collagen 6-related myopathy [RCV001138821] Chr2:237363392 [GRCh38]
Chr2:238272035 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val) single nucleotide variant Bethlem myopathy 1A [RCV001853998]|not provided [RCV000592549] Chr2:237366002 [GRCh38]
Chr2:238274645 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5877G>C (p.Leu1959=) single nucleotide variant Bethlem myopathy 1A [RCV001392612] Chr2:237364390 [GRCh38]
Chr2:238273033 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6156+1G>A single nucleotide variant Bethlem myopathy 1A [RCV002529043]|not provided [RCV000578830] Chr2:237361738 [GRCh38]
Chr2:238270381 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4742C>G (p.Thr1581Arg) single nucleotide variant Bethlem myopathy 1A [RCV000530753]|not provided [RCV002274066] Chr2:237368721 [GRCh38]
Chr2:238277364 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.9041C>T (p.Pro3014Leu) single nucleotide variant Bethlem myopathy 1A [RCV000527754] Chr2:237334814 [GRCh38]
Chr2:238243457 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.108G>T (p.Ala36=) single nucleotide variant Bethlem myopathy 1A [RCV002530972]|not provided [RCV000592733] Chr2:237395188 [GRCh38]
Chr2:238303831 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter) single nucleotide variant Bethlem myopathy 1A [RCV003631131]|not provided [RCV000579094] Chr2:237369073 [GRCh38]
Chr2:238277716 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) single nucleotide variant Bethlem myopathy 1A [RCV001439881]|not provided [RCV000598520] Chr2:237325708 [GRCh38]
Chr2:238234351 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8467= indel not provided [RCV000598576] Chr2:237339115..237339130 [GRCh38]
Chr2:238247758..238247773 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser) single nucleotide variant Bethlem myopathy 1A [RCV000815771]|not provided [RCV000592913] Chr2:237374427 [GRCh38]
Chr2:238283070 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs) deletion Bethlem myopathy 1A [RCV001386731]|not provided [RCV000523195] Chr2:237336169 [GRCh38]
Chr2:238244812 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys) single nucleotide variant Bethlem myopathy 1A [RCV003517232]|not provided [RCV000597614] Chr2:237339084 [GRCh38]
Chr2:238247727 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9043C>T (p.Pro3015Ser) single nucleotide variant Bethlem myopathy 1A [RCV001860189]|not provided [RCV000593008] Chr2:237334812 [GRCh38]
Chr2:238243455 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7342G>T (p.Val2448Phe) single nucleotide variant Bethlem myopathy 1A [RCV001480435]|not provided [RCV000593099] Chr2:237344676 [GRCh38]
Chr2:238253319 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4491C>T (p.Ala1497=) single nucleotide variant Bethlem myopathy 1A [RCV001475025]|not provided [RCV000593110] Chr2:237368972 [GRCh38]
Chr2:238277615 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7843G>A (p.Asp2615Asn) single nucleotide variant Bethlem myopathy 1A [RCV001078607]|Inborn genetic diseases [RCV002525235]|not provided [RCV000732252] Chr2:237341073 [GRCh38]
Chr2:238249716 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5128G>A (p.Val1710Ile) single nucleotide variant Bethlem myopathy 1A [RCV000551304]|Inborn genetic diseases [RCV003159937]|not provided [RCV003144373] Chr2:237367059 [GRCh38]
Chr2:238275702 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp) single nucleotide variant Bethlem myopathy 1A [RCV000695068]|Inborn genetic diseases [RCV004024707]|not provided [RCV000598262] Chr2:237372276 [GRCh38]
Chr2:238280919 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7376G>A (p.Arg2459Gln) single nucleotide variant Bethlem myopathy 1A [RCV000806184]|not provided [RCV000598360] Chr2:237344642 [GRCh38]
Chr2:238253285 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met) single nucleotide variant Bethlem myopathy 1A [RCV003631137]|not provided [RCV000598365] Chr2:237368774 [GRCh38]
Chr2:238277417 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2354A>C (p.Glu785Ala) single nucleotide variant not provided [RCV000593292] Chr2:237378779 [GRCh38]
Chr2:238287422 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8615C>T (p.Thr2872Met) single nucleotide variant Bethlem myopathy 1A [RCV000555066]|not provided [RCV000594693] Chr2:237336485 [GRCh38]
Chr2:238245128 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys) single nucleotide variant not provided [RCV000593450]|not specified [RCV003330812] Chr2:237344593 [GRCh38]
Chr2:238253236 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1971T>C (p.Tyr657=) single nucleotide variant Bethlem myopathy 1A [RCV003631141]|not provided [RCV000593481] Chr2:237379162 [GRCh38]
Chr2:238287805 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8457C>T (p.Phe2819=) single nucleotide variant Bethlem myopathy 1A [RCV000653643]|not provided [RCV000593499] Chr2:237340459 [GRCh38]
Chr2:238249102 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly) single nucleotide variant Bethlem myopathy 1A [RCV002532567]|not provided [RCV000596401] Chr2:237368773 [GRCh38]
Chr2:238277416 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1006C>T (p.Arg336Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653542]|not provided [RCV000596437] Chr2:237387888 [GRCh38]
Chr2:238296531 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8393T>C (p.Val2798Ala) single nucleotide variant Bethlem myopathy 1A [RCV001216322]|not provided [RCV000593637] Chr2:237340523 [GRCh38]
Chr2:238249166 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4835C>A (p.Ser1612Ter) single nucleotide variant not provided [RCV000593660] Chr2:237368628 [GRCh38]
Chr2:238277271 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.839G>T (p.Arg280Leu) single nucleotide variant Bethlem myopathy 1A [RCV003631139]|Collagen 6-related myopathy [RCV001141967]|not provided [RCV000593811] Chr2:237388055 [GRCh38]
Chr2:238296698 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu) single nucleotide variant Bethlem myopathy 1A [RCV000653548]|not provided [RCV000593871] Chr2:237381072 [GRCh38]
Chr2:238289715 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) single nucleotide variant Bethlem myopathy 1A [RCV001514420]|not provided [RCV000727105]|not specified [RCV000597332] Chr2:237342128 [GRCh38]
Chr2:238250771 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) single nucleotide variant Bethlem myopathy 1A [RCV000653557]|Bethlem myopathy 1A [RCV003483687]|Tip-toe gait [RCV002224968]|not provided [RCV000597561] Chr2:237378827 [GRCh38]
Chr2:238287470 [GRCh37]
Chr2:2q37.3		 likely pathogenic|likely benign|uncertain significance|not provided
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) single nucleotide variant Bethlem myopathy 1A [RCV001419741]|COL6A3-related disorder [RCV004737876]|not provided [RCV000591152] Chr2:237368800 [GRCh38]
Chr2:238277443 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) single nucleotide variant Bethlem myopathy 1A [RCV000653598]|not provided [RCV000593880] Chr2:237374922 [GRCh38]
Chr2:238283565 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1022G>T (p.Arg341Leu) single nucleotide variant Bethlem myopathy 1A [RCV003631135]|not provided [RCV000591218] Chr2:237387872 [GRCh38]
Chr2:238296515 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His) single nucleotide variant Bethlem myopathy 1A [RCV001067503]|not provided [RCV000591310] Chr2:237366974 [GRCh38]
Chr2:238275617 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) single nucleotide variant Bethlem myopathy 1A [RCV000626245]|not provided [RCV003139954] Chr2:237357834 [GRCh38]
Chr2:238266477 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu) single nucleotide variant Bethlem myopathy 1A [RCV000555366] Chr2:237368590 [GRCh38]
Chr2:238277233 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8465G>A (p.Ser2822Asn) single nucleotide variant not provided [RCV000598293] Chr2:237339117 [GRCh38]
Chr2:238247760 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2488G>A (p.Ala830Thr) single nucleotide variant not provided [RCV000595195] Chr2:237378645 [GRCh38]
Chr2:238287288 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val) single nucleotide variant Bethlem myopathy 1A [RCV003517260]|not provided [RCV000730002] Chr2:237334775 [GRCh38]
Chr2:238243418 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5743C>T (p.Arg1915Trp) single nucleotide variant Bethlem myopathy 1A [RCV000653546]|not provided [RCV000415802] Chr2:237365793 [GRCh38]
Chr2:238274436 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) single nucleotide variant Bethlem myopathy 1A [RCV003517261]|not provided [RCV000730573] Chr2:237336402 [GRCh38]
Chr2:238245045 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7937T>C (p.Val2646Ala) single nucleotide variant not provided [RCV000730304] Chr2:237340979 [GRCh38]
Chr2:238249622 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9031A>G (p.Arg3011Gly) single nucleotide variant Bethlem myopathy 1A [RCV002558311]|Collagen 6-related myopathy [RCV001138502] Chr2:237334824 [GRCh38]
Chr2:238243467 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2145G>T (p.Ser715=) single nucleotide variant Bethlem myopathy 1A [RCV002067083]|not provided [RCV000728219] Chr2:237378988 [GRCh38]
Chr2:238287631 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4534T>A (p.Ser1512Thr) single nucleotide variant Bethlem myopathy 1A [RCV000536979] Chr2:237368929 [GRCh38]
Chr2:238277572 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7695G>T (p.Ala2565=) single nucleotide variant not provided [RCV000732020] Chr2:237342135 [GRCh38]
Chr2:238250778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5826G>A (p.Pro1942=) single nucleotide variant Bethlem myopathy 1A [RCV002067138]|not provided [RCV000732971] Chr2:237365710 [GRCh38]
Chr2:238274353 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys) single nucleotide variant Bethlem myopathy 1A [RCV001363349]|Inborn genetic diseases [RCV002536490]|not provided [RCV000733002] Chr2:237347864 [GRCh38]
Chr2:238256507 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6798C>G (p.Thr2266=) single nucleotide variant Bethlem myopathy 1A [RCV002535311]|not provided [RCV000733073] Chr2:237351148 [GRCh38]
Chr2:238259791 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7158A>G (p.Lys2386=) single nucleotide variant Bethlem myopathy 1A [RCV002067158]|not provided [RCV000733813] Chr2:237345062 [GRCh38]
Chr2:238253705 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala) single nucleotide variant Bethlem myopathy 1A [RCV001220896]|not provided [RCV000733822] Chr2:237336293 [GRCh38]
Chr2:238244936 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1066G>A (p.Gly356Arg) single nucleotide variant Bethlem myopathy 1A [RCV002535138]|not provided [RCV000730004] Chr2:237387828 [GRCh38]
Chr2:238296471 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9192T>G (p.Ser3064=) single nucleotide variant Bethlem myopathy 1A [RCV002535193]|not provided [RCV000731146] Chr2:237334663 [GRCh38]
Chr2:238243306 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys) single nucleotide variant Bethlem myopathy 1A [RCV001298112]|not provided [RCV000732189] Chr2:237372026 [GRCh38]
Chr2:238280669 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5379C>T (p.Ser1793=) single nucleotide variant Bethlem myopathy 1A [RCV002067159]|not provided [RCV000733868] Chr2:237366808 [GRCh38]
Chr2:238275451 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=) single nucleotide variant Bethlem myopathy 1A [RCV002067166]|COL6A3-related disorder [RCV004547938]|not provided [RCV000734364] Chr2:237325714 [GRCh38]
Chr2:238234357 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2600A>T (p.Asn867Ile) single nucleotide variant Bethlem myopathy 1A [RCV001367018]|not provided [RCV000595402]|not specified [RCV004586816] Chr2:237377242 [GRCh38]
Chr2:238285885 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4765G>A (p.Asp1589Asn) single nucleotide variant Bethlem myopathy 1A [RCV000804355]|Inborn genetic diseases [RCV004609516]|not provided [RCV000735177] Chr2:237368698 [GRCh38]
Chr2:238277341 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2094C>T (p.Thr698=) single nucleotide variant not provided [RCV000728627] Chr2:237379039 [GRCh38]
Chr2:238287682 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2730G>A (p.Thr910=) single nucleotide variant Bethlem myopathy 1A [RCV001088906]|not provided [RCV000730257] Chr2:237377112 [GRCh38]
Chr2:238285755 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7587T>C (p.Ala2529=) single nucleotide variant not provided [RCV000731344] Chr2:237344431 [GRCh38]
Chr2:238253074 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln) single nucleotide variant Bethlem myopathy 1A [RCV000808904]|not provided [RCV000731351] Chr2:237367092 [GRCh38]
Chr2:238275735 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln) single nucleotide variant Bethlem myopathy 1A [RCV001855658]|not provided [RCV000731354] Chr2:237359381 [GRCh38]
Chr2:238268024 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5838+1G>T single nucleotide variant Bethlem myopathy 1A [RCV000794660]|not provided [RCV000732220] Chr2:237365697 [GRCh38]
Chr2:238274340 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.4146G>T (p.Ser1382=) single nucleotide variant not provided [RCV000732248] Chr2:237371871 [GRCh38]
Chr2:238280514 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5315A>G (p.Lys1772Arg) single nucleotide variant not provided [RCV000732265] Chr2:237366872 [GRCh38]
Chr2:238275515 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4239A>G (p.Ser1413=) single nucleotide variant Bethlem myopathy 1A [RCV002067145]|not provided [RCV000733161] Chr2:237371778 [GRCh38]
Chr2:238280421 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2146G>A (p.Gly716Ser) single nucleotide variant not provided [RCV000730358] Chr2:237378987 [GRCh38]
Chr2:238287630 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2068G>A (p.Glu690Lys) single nucleotide variant Bethlem myopathy 1A [RCV001868974]|not provided [RCV000732309] Chr2:237379065 [GRCh38]
Chr2:238287708 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6957A>G (p.Pro2319=) single nucleotide variant Bethlem myopathy 1A [RCV001447513]|not provided [RCV000594327] Chr2:237348358 [GRCh38]
Chr2:238257001 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val) single nucleotide variant Bethlem myopathy 1A [RCV001071514]|not provided [RCV000734531] Chr2:237377215 [GRCh38]
Chr2:238285858 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2544T>C (p.Leu848=) single nucleotide variant not provided [RCV000734543] Chr2:237377298 [GRCh38]
Chr2:238285941 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5770G>A (p.Val1924Ile) single nucleotide variant Bethlem myopathy 1A [RCV001414343] Chr2:237365766 [GRCh38]
Chr2:238274409 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6613C>A (p.Pro2205Thr) single nucleotide variant Bethlem myopathy 1A [RCV000534801]|Inborn genetic diseases [RCV003159938] Chr2:237354913 [GRCh38]
Chr2:238263556 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6159T>C (p.Gly2053=) single nucleotide variant Bethlem myopathy 1A [RCV001468795]|not provided [RCV000728841] Chr2:237361172 [GRCh38]
Chr2:238269815 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) single nucleotide variant Bethlem myopathy 1A [RCV003631155]|not provided [RCV000731485] Chr2:237395172 [GRCh38]
Chr2:238303815 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631156]|not provided [RCV000731486] Chr2:237368614 [GRCh38]
Chr2:238277257 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2561T>C (p.Val854Ala) single nucleotide variant Bethlem myopathy 1A [RCV001855684]|not provided [RCV000732405] Chr2:237377281 [GRCh38]
Chr2:238285924 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3588C>T (p.Thr1196=) single nucleotide variant Bethlem myopathy 1A [RCV002535272]|not provided [RCV000732407] Chr2:237374503 [GRCh38]
Chr2:238283146 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.*7G>T single nucleotide variant not provided [RCV000732409] Chr2:237324767 [GRCh38]
Chr2:238233410 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3624C>T (p.Leu1208=) single nucleotide variant not provided [RCV000732431] Chr2:237374467 [GRCh38]
Chr2:238283110 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6063+8T>G single nucleotide variant not provided [RCV000594438] Chr2:237363245 [GRCh38]
Chr2:238271888 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2086T>C (p.Tyr696His) single nucleotide variant not provided [RCV000733874] Chr2:237379047 [GRCh38]
Chr2:238287690 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8377G>A (p.Val2793Ile) single nucleotide variant Bethlem myopathy 1A [RCV001057134]|not provided [RCV000594529] Chr2:237340539 [GRCh38]
Chr2:238249182 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln) single nucleotide variant Bethlem myopathy 1A [RCV003631158]|not provided [RCV000733309] Chr2:237371818 [GRCh38]
Chr2:238280461 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4404C>T (p.Ile1468=) single nucleotide variant Bethlem myopathy 1A [RCV003517262]|not provided [RCV000733326] Chr2:237369059 [GRCh38]
Chr2:238277702 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8743G>A (p.Ala2915Thr) single nucleotide variant Bethlem myopathy 1A [RCV001340091]|not provided [RCV000733409] Chr2:237336357 [GRCh38]
Chr2:238245000 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs) deletion not provided [RCV000733414] Chr2:237376854..237376857 [GRCh38]
Chr2:238285497..238285500 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3909G>T (p.Arg1303Ser) single nucleotide variant not provided [RCV000734032] Chr2:237372108 [GRCh38]
Chr2:238280751 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1897+3A>G single nucleotide variant Bethlem myopathy 1A [RCV001309349]|not provided [RCV000734035] Chr2:237380912 [GRCh38]
Chr2:238289555 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln) single nucleotide variant Bethlem myopathy 1A [RCV001855800]|not provided [RCV000734074] Chr2:237376802 [GRCh38]
Chr2:238285445 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.426C>T (p.Val142=) single nucleotide variant not provided [RCV000734709] Chr2:237394870 [GRCh38]
Chr2:238303513 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr) single nucleotide variant Bethlem myopathy 1A [RCV000533112] Chr2:237371909 [GRCh38]
Chr2:238280552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser) single nucleotide variant Bethlem myopathy 1A [RCV000560431] Chr2:237365784 [GRCh38]
Chr2:238274427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe) single nucleotide variant Bethlem myopathy 1A [RCV000539675] Chr2:237366861 [GRCh38]
Chr2:238275504 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5542G>T (p.Asp1848Tyr) single nucleotide variant COL6A3-related disorder [RCV004723145]|not provided [RCV000732505] Chr2:237365994 [GRCh38]
Chr2:238274637 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6639C>A (p.Gly2213=) single nucleotide variant Bethlem myopathy 1A [RCV002067132]|not provided [RCV000732520] Chr2:237353392 [GRCh38]
Chr2:238262035 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2083A>G (p.Thr695Ala) single nucleotide variant not provided [RCV000732605] Chr2:237379050 [GRCh38]
Chr2:238287693 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5387C>T (p.Ala1796Val) single nucleotide variant Bethlem myopathy 1A [RCV000795206]|Inborn genetic diseases [RCV002535285]|not provided [RCV000732612] Chr2:237366800 [GRCh38]
Chr2:238275443 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3279C>T (p.Asn1093=) single nucleotide variant Bethlem myopathy 1A [RCV001428682]|not provided [RCV000733510] Chr2:237374812 [GRCh38]
Chr2:238283455 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1958C>A (p.Thr653Asn) single nucleotide variant Bethlem myopathy 1A [RCV000803847]|not provided [RCV000733546] Chr2:237379175 [GRCh38]
Chr2:238287818 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) single nucleotide variant Bethlem myopathy 1A [RCV001868996]|Collagen 6-related myopathy [RCV001141635]|not provided [RCV000734857] Chr2:237372185 [GRCh38]
Chr2:238280828 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp) single nucleotide variant Bethlem myopathy 1A [RCV000535502] Chr2:237367022 [GRCh38]
Chr2:238275665 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6157G>T (p.Gly2053Cys) single nucleotide variant not provided [RCV000731621] Chr2:237361174 [GRCh38]
Chr2:238269817 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5893G>C (p.Ala1965Pro) single nucleotide variant not provided [RCV000731623] Chr2:237364374 [GRCh38]
Chr2:238273017 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) single nucleotide variant Bethlem myopathy 1A [RCV000538138] Chr2:237377340 [GRCh38]
Chr2:238285983 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7993G>T (p.Ala2665Ser) single nucleotide variant not provided [RCV000729723] Chr2:237340923 [GRCh38]
Chr2:238249566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2613G>A (p.Glu871=) single nucleotide variant Bethlem myopathy 1A [RCV002067100]|not provided [RCV000729829] Chr2:237377229 [GRCh38]
Chr2:238285872 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4504G>T (p.Ala1502Ser) single nucleotide variant not provided [RCV000729836] Chr2:237368959 [GRCh38]
Chr2:238277602 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3629G>A (p.Arg1210His) single nucleotide variant not provided [RCV000729858] Chr2:237374462 [GRCh38]
Chr2:238283105 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6869G>A (p.Arg2290His) single nucleotide variant Bethlem myopathy 1A [RCV003117534]|not provided [RCV000732856] Chr2:237350157 [GRCh38]
Chr2:238258800 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8865_8867del (p.Ala2960del) deletion Bethlem myopathy 1A [RCV003631159]|not specified [RCV000733728] Chr2:237336233..237336235 [GRCh38]
Chr2:238244876..238244878 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7266A>C (p.Arg2422=) single nucleotide variant Bethlem myopathy 1A [RCV000558410] Chr2:237344752 [GRCh38]
Chr2:238253395 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.984C>T (p.Phe328=) single nucleotide variant Bethlem myopathy 1A [RCV000560867] Chr2:237387910 [GRCh38]
Chr2:238296553 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1572C>T (p.Tyr524=) single nucleotide variant Bethlem myopathy 1A [RCV001081036]|not provided [RCV000594894] Chr2:237381240 [GRCh38]
Chr2:238289883 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.29T>C (p.Val10Ala) single nucleotide variant Bethlem myopathy 1A [RCV002535302]|not provided [RCV000732942] Chr2:237396789 [GRCh38]
Chr2:238305432 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8596C>T (p.Pro2866Ser) single nucleotide variant not specified [RCV000412905] Chr2:237336504 [GRCh38]
Chr2:238245147 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) single nucleotide variant Bethlem myopathy 1A [RCV001088484]|not provided [RCV000730995] Chr2:237379156 [GRCh38]
Chr2:238287799 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4155C>T (p.Pro1385=) single nucleotide variant Bethlem myopathy 1A [RCV001411344]|not provided [RCV000729151] Chr2:237371862 [GRCh38]
Chr2:238280505 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3256A>G (p.Met1086Val) single nucleotide variant not provided [RCV000729233] Chr2:237374835 [GRCh38]
Chr2:238283478 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2972C>A (p.Ala991Glu) single nucleotide variant not provided [RCV000731799] Chr2:237376870 [GRCh38]
Chr2:238285513 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2035G>T (p.Gly679Cys) single nucleotide variant not provided [RCV000734893] Chr2:237379098 [GRCh38]
Chr2:238287741 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4608A>G (p.Ile1536Met) single nucleotide variant not provided [RCV000734900] Chr2:237368855 [GRCh38]
Chr2:238277498 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5632A>C (p.Ser1878Arg) single nucleotide variant not provided [RCV000730923] Chr2:237365904 [GRCh38]
Chr2:238274547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) single nucleotide variant Bethlem myopathy 1A [RCV000541654]|not provided [RCV003128797]|not specified [RCV000413666] Chr2:237372208 [GRCh38]
Chr2:238280851 [GRCh37]
Chr2:2q37.3		 uncertain significance|no classifications from unflagged records
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg) single nucleotide variant Bethlem myopathy 1A [RCV000806159] Chr2:237359363 [GRCh38]
Chr2:238268006 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp) single nucleotide variant Bethlem myopathy 1A [RCV000541124] Chr2:237340476 [GRCh38]
Chr2:238249119 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1785C>G (p.Ile595Met) single nucleotide variant Bethlem myopathy 1A [RCV000541136] Chr2:237381027 [GRCh38]
Chr2:238289670 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) indel Bethlem myopathy 1A [RCV001855753]|not provided [RCV000730968] Chr2:237365903..237365904 [GRCh38]
Chr2:238274546..238274547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1867C>T (p.Pro623Ser) single nucleotide variant Bethlem myopathy 1A [RCV000704566]|not provided [RCV000726933]|not specified [RCV000413959] Chr2:237380945 [GRCh38]
Chr2:238289588 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu) single nucleotide variant Bethlem myopathy 1A [RCV002536530]|not provided [RCV000734990] Chr2:237371765 [GRCh38]
Chr2:238280408 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004369.4(COL6A3):c.4197C>A (p.Ser1399Arg) single nucleotide variant Bethlem myopathy 1A [RCV001868928]|Inborn genetic diseases [RCV004609507]|not provided [RCV000728176] Chr2:237371820 [GRCh38]
Chr2:238280463 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8567+2dup duplication Bethlem myopathy 1A [RCV001862174]|not provided [RCV000729507] Chr2:237339012..237339013 [GRCh38]
Chr2:238247655..238247656 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238249548-238646119)x3 copy number gain See cases [RCV000446469] Chr2:238249548..238646119 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.576G>A (p.Pro192=) single nucleotide variant Bethlem myopathy 1A [RCV001428194]|COL6A3-related disorder [RCV004737477]|not provided [RCV000532047] Chr2:237394720 [GRCh38]
Chr2:238303363 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3456C>T (p.Ser1152=) single nucleotide variant Bethlem myopathy 1A [RCV000560574]|not provided [RCV001721401] Chr2:237374635 [GRCh38]
Chr2:238283278 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.3936G>C (p.Val1312=) single nucleotide variant Bethlem myopathy 1A [RCV001437673]|not specified [RCV000445282] Chr2:237372081 [GRCh38]
Chr2:238280724 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1530C>T (p.Thr510=) single nucleotide variant Bethlem myopathy 1A [RCV002063621]|not provided [RCV000876177]|not specified [RCV000441864] Chr2:237381282 [GRCh38]
Chr2:238289925 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4116C>T (p.Asn1372=) single nucleotide variant Bethlem myopathy 1A [RCV000653678]|not provided [RCV001703731] Chr2:237371901 [GRCh38]
Chr2:238280544 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.-31+17T>C single nucleotide variant not provided [RCV004709998]|not specified [RCV000438484] Chr2:237413936 [GRCh38]
Chr2:238322579 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9330T>A (p.Asp3110Glu) single nucleotide variant not provided [RCV000418412] Chr2:237325723 [GRCh38]
Chr2:238234366 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709+11C>T single nucleotide variant Bethlem myopathy 1A [RCV002063511]|not specified [RCV000424681] Chr2:237394576 [GRCh38]
Chr2:238303219 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.5265G>A (p.Ser1755=) single nucleotide variant Bethlem myopathy 1A [RCV001489716]|not specified [RCV000442377] Chr2:237366922 [GRCh38]
Chr2:238275565 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6310-18C>T single nucleotide variant Bethlem myopathy 1A [RCV002063452]|not provided [RCV004711082]|not specified [RCV000424814] Chr2:237359268 [GRCh38]
Chr2:238267911 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.7092+20T>C single nucleotide variant Bethlem myopathy 1A [RCV002063432]|not specified [RCV000438759] Chr2:237346483 [GRCh38]
Chr2:238255126 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8826G>A (p.Ala2942=) single nucleotide variant Bethlem myopathy 1A [RCV001444815]|Collagen 6-related myopathy [RCV001141064]|not provided [RCV003431003]|not specified [RCV000442799] Chr2:237336274 [GRCh38]
Chr2:238244917 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7878C>T (p.Ser2626=) single nucleotide variant Bethlem myopathy 1A [RCV000871991]|not provided [RCV004711071]|not specified [RCV000432448] Chr2:237341038 [GRCh38]
Chr2:238249681 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.5061C>T (p.Pro1687=) single nucleotide variant not specified [RCV000439861] Chr2:237367126 [GRCh38]
Chr2:238275769 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8244G>A (p.Pro2748=) single nucleotide variant Bethlem myopathy 1A [RCV001445716]|COL6A3-related disorder [RCV004551486]|not specified [RCV000419738] Chr2:237340672 [GRCh38]
Chr2:238249315 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8892G>A (p.Ala2964=) single nucleotide variant Bethlem myopathy 1A [RCV001483726]|COL6A3-related disorder [RCV004551472]|not specified [RCV000422557] Chr2:237336208 [GRCh38]
Chr2:238244851 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1898-17T>C single nucleotide variant not specified [RCV000429820] Chr2:237379252 [GRCh38]
Chr2:238287895 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6967-15C>T single nucleotide variant Bethlem myopathy 1A [RCV002062608]|not specified [RCV000422761] Chr2:237347884 [GRCh38]
Chr2:238256527 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5839-9T>C single nucleotide variant Bethlem myopathy 1A [RCV001488025]|not specified [RCV000440509] Chr2:237364437 [GRCh38]
Chr2:238273080 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6592-16A>T single nucleotide variant Bethlem myopathy 1A [RCV002062783]|Bethlem myopathy 1A [RCV002502549]|not provided [RCV004708872]|not specified [RCV000430163] Chr2:237354950 [GRCh38]
Chr2:238263593 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6283-15C>T single nucleotide variant Bethlem myopathy 1A [RCV003114554]|not specified [RCV000430262] Chr2:237359403 [GRCh38]
Chr2:238268046 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1275G>T (p.Arg425Ser) single nucleotide variant Inborn genetic diseases [RCV002522665]|not provided [RCV000436992] Chr2:237387619 [GRCh38]
Chr2:238296262 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6211-13T>C single nucleotide variant Bethlem myopathy 1A [RCV002058952]|not provided [RCV001712252] Chr2:237360172 [GRCh38]
Chr2:238268815 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) single nucleotide variant Bethlem myopathy 1A [RCV001083454]|Collagen 6-related myopathy [RCV001136784]|not provided [RCV000727301] Chr2:237371871 [GRCh38]
Chr2:238280514 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs) deletion Bethlem myopathy 1A [RCV000802661]|not provided [RCV000481370] Chr2:237366707 [GRCh38]
Chr2:238275350 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.1529C>T (p.Thr510Ile) single nucleotide variant not provided [RCV000479929] Chr2:237381283 [GRCh38]
Chr2:238289926 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4817A>G (p.Glu1606Gly) single nucleotide variant not provided [RCV000484090] Chr2:237368646 [GRCh38]
Chr2:238277289 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9284T>C (p.Ile3095Thr) single nucleotide variant not provided [RCV000484155] Chr2:237333494 [GRCh38]
Chr2:238242137 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter) single nucleotide variant Bethlem myopathy 1A [RCV000704208]|Bethlem myopathy 1A [RCV003224805]|not provided [RCV000482545] Chr2:237377336 [GRCh38]
Chr2:238285979 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.1979A>C (p.Asp660Ala) single nucleotide variant not provided [RCV000484386] Chr2:237379154 [GRCh38]
Chr2:238287797 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8965+1G>A single nucleotide variant not provided [RCV000483769] Chr2:237336134 [GRCh38]
Chr2:238244777 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004369.4(COL6A3):c.7669-2del deletion Bethlem myopathy 1A [RCV000477801]|COL6A3-related disorder [RCV004551575] Chr2:237342163 [GRCh38]
Chr2:238250806 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.1471_1475delinsCACAG (p.Asp491_Thr492delinsHisSer) indel not specified [RCV000486917] Chr2:237381337..237381341 [GRCh38]
Chr2:238289980..238289984 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) single nucleotide variant Bethlem myopathy 1A [RCV000800319]|not provided [RCV000486882] Chr2:237361164 [GRCh38]
Chr2:238269807 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.6571C>T (p.Pro2191Ser) single nucleotide variant not provided [RCV000478462] Chr2:237357358 [GRCh38]
Chr2:238266001 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) single nucleotide variant Bethlem myopathy 1A [RCV001236183]|Inborn genetic diseases [RCV003258821]|not provided [RCV000482756] Chr2:237358522 [GRCh38]
Chr2:238267165 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3806C>T (p.Thr1269Ile) single nucleotide variant not provided [RCV000483103] Chr2:237372211 [GRCh38]
Chr2:238280854 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8506T>C (p.Cys2836Arg) single nucleotide variant not provided [RCV000498800] Chr2:237339076 [GRCh38]
Chr2:238247719 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653578]|not provided [RCV000498851] Chr2:237340479 [GRCh38]
Chr2:238249122 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6211-9del deletion Bethlem myopathy 1A [RCV001865603]|not specified [RCV000503488] Chr2:237360168 [GRCh38]
Chr2:238268811 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6331CTGGATGGT[1] (p.2111LDG[1]) microsatellite not provided [RCV000497331] Chr2:237359212..237359220 [GRCh38]
Chr2:238267855..238267863 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) single nucleotide variant Bethlem myopathy 1A [RCV001044984]|not specified [RCV000499780] Chr2:237387921 [GRCh38]
Chr2:238296564 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4894C>T (p.Arg1632Trp) single nucleotide variant Bethlem myopathy 1A [RCV002524090]|not provided [RCV000497764] Chr2:237368569 [GRCh38]
Chr2:238277212 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8930C>T (p.Pro2977Leu) single nucleotide variant not provided [RCV000498060] Chr2:237336170 [GRCh38]
Chr2:238244813 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter) single nucleotide variant Bethlem myopathy 1A [RCV001389456]|not provided [RCV000493437] Chr2:237354922 [GRCh38]
Chr2:238263565 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.9217A>G (p.Ser3073Gly) single nucleotide variant Bethlem myopathy 1A [RCV002063859]|Collagen 6-related myopathy [RCV001142819]|not provided [RCV000493809] Chr2:237334638 [GRCh38]
Chr2:238243281 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.9445G>A (p.Glu3149Lys) single nucleotide variant Bethlem myopathy 1A [RCV001326535]|Inborn genetic diseases [RCV002524044]|not provided [RCV000494209] Chr2:237325608 [GRCh38]
Chr2:238234251 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) deletion Bethlem myopathy 1A [RCV000813586]|not provided [RCV000492818] Chr2:237336449..237336466 [GRCh38]
Chr2:238245092..238245109 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4880C>T (p.Thr1627Ile) single nucleotide variant Collagen 6-related myopathy [RCV001141515]|not provided [RCV000493221] Chr2:237368583 [GRCh38]
Chr2:238277226 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238131760-238391406)x3 copy number gain See cases [RCV000510909] Chr2:238131760..238391406 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val) single nucleotide variant Bethlem myopathy 1A [RCV003517216]|not provided [RCV000519484] Chr2:237325595 [GRCh38]
Chr2:238234238 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+3A>G single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV001809468]|not provided [RCV000521476] Chr2:237359359 [GRCh38]
Chr2:238268002 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr) single nucleotide variant Bethlem myopathy 1A [RCV000556030] Chr2:237347854 [GRCh38]
Chr2:238256497 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4691G>A (p.Arg1564His) single nucleotide variant Bethlem myopathy 1A [RCV000541981]|not provided [RCV003480692] Chr2:237368772 [GRCh38]
Chr2:238277415 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1566C>A (p.Ala522=) single nucleotide variant Bethlem myopathy 1A [RCV000533906] Chr2:237381246 [GRCh38]
Chr2:238289889 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2972C>T (p.Ala991Val) single nucleotide variant Bethlem myopathy 1A [RCV000538546]|Inborn genetic diseases [RCV002526736]|Tip-toe gait [RCV001358776]|not provided [RCV003144372] Chr2:237376870 [GRCh38]
Chr2:238285513 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His) single nucleotide variant Bethlem myopathy 1A [RCV000534208] Chr2:237376947 [GRCh38]
Chr2:238285590 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3903G>A (p.Arg1301=) single nucleotide variant not specified [RCV000604165] Chr2:237372114 [GRCh38]
Chr2:238280757 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2952G>C (p.Glu984Asp) single nucleotide variant not provided [RCV000594110] Chr2:237376890 [GRCh38]
Chr2:238285533 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) single nucleotide variant Bethlem myopathy 1A [RCV000594165]|not provided [RCV000726810] Chr2:237351147 [GRCh38]
Chr2:238259790 [GRCh37]
Chr2:2q37.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000002.12:g.(?_237333450)_(237334889_?)del deletion Bethlem myopathy 1A [RCV000539865] Chr2:237333450..237334889 [GRCh38]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6477C>T (p.Asn2159=) single nucleotide variant Bethlem myopathy 1A [RCV000931942]|not specified [RCV000604891] Chr2:237357877 [GRCh38]
Chr2:238266520 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn) single nucleotide variant Bethlem myopathy 1A [RCV001867950]|not provided [RCV000594628] Chr2:237366761 [GRCh38]
Chr2:238275404 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.467A>C (p.Asp156Ala) single nucleotide variant Bethlem myopathy 1A [RCV001342429]|not provided [RCV000596560] Chr2:237394829 [GRCh38]
Chr2:238303472 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5126T>A (p.Val1709Glu) single nucleotide variant not provided [RCV000514575] Chr2:237367061 [GRCh38]
Chr2:238275704 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter) single nucleotide variant Bethlem myopathy 1A [RCV000558187] Chr2:237377222 [GRCh38]
Chr2:238285865 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) single nucleotide variant Bethlem myopathy 1A [RCV000808346]|not provided [RCV000597274] Chr2:237387602 [GRCh38]
Chr2:238296245 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) single nucleotide variant Bethlem myopathy 1A [RCV000558530]|Collagen 6-related myopathy [RCV003994015]|not provided [RCV004691913] Chr2:237367119 [GRCh38]
Chr2:238275762 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9045C>T (p.Pro3015=) single nucleotide variant Bethlem myopathy 1A [RCV000540206]|COL6A3-related disorder [RCV004737832] Chr2:237334810 [GRCh38]
Chr2:238243453 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4900+10G>A single nucleotide variant Bethlem myopathy 1A [RCV001432755]|not provided [RCV000597709] Chr2:237368553 [GRCh38]
Chr2:238277196 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3187G>A (p.Asp1063Asn) single nucleotide variant Bethlem myopathy 1A [RCV001206779]|not provided [RCV000597773] Chr2:237374904 [GRCh38]
Chr2:238283547 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.550G>A (p.Ala184Thr) single nucleotide variant Bethlem myopathy 1A [RCV000806334]|COL6A3-related disorder [RCV004737871]|Inborn genetic diseases [RCV002531079]|not provided [RCV000598246] Chr2:237394746 [GRCh38]
Chr2:238303389 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala) single nucleotide variant Bethlem myopathy 1A [RCV000540588] Chr2:237366002 [GRCh38]
Chr2:238274645 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro) single nucleotide variant Bethlem myopathy 1A [RCV000559787] Chr2:237344687 [GRCh38]
Chr2:238253330 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.6182G>A (p.Arg2061Gln) single nucleotide variant Bethlem myopathy 1A [RCV000541035] Chr2:237361149 [GRCh38]
Chr2:238269792 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1061G>A (p.Ser354Asn) single nucleotide variant Bethlem myopathy 1A [RCV000541712]|not provided [RCV003144370]|not specified [RCV004701649] Chr2:237387833 [GRCh38]
Chr2:238296476 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu) single nucleotide variant Bethlem myopathy 1A [RCV000556235] Chr2:237387690 [GRCh38]
Chr2:238296333 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu) single nucleotide variant Bethlem myopathy 1A [RCV000547662] Chr2:237374546 [GRCh38]
Chr2:238283189 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) single nucleotide variant Bethlem myopathy 1A [RCV000873836]|COL6A3-related disorder [RCV004553309]|not specified [RCV000594017] Chr2:237363263 [GRCh38]
Chr2:238271906 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.2029C>T (p.Arg677Cys) single nucleotide variant Bethlem myopathy 1A [RCV000687632]|COL6A3-related disorder [RCV004553335]|not provided [RCV000595749] Chr2:237379104 [GRCh38]
Chr2:238287747 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His) single nucleotide variant Bethlem myopathy 1A [RCV003631132]|not provided [RCV000595827] Chr2:237340484 [GRCh38]
Chr2:238249127 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) single nucleotide variant Bethlem myopathy 1A [RCV001213334]|not provided [RCV000594229] Chr2:237388092 [GRCh38]
Chr2:238296735 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1920C>A (p.Ile640=) single nucleotide variant Bethlem myopathy 1A [RCV001498643]|not provided [RCV000597176] Chr2:237379213 [GRCh38]
Chr2:238287856 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5403C>T (p.Asn1801=) single nucleotide variant Bethlem myopathy 1A [RCV001428212]|not provided [RCV000595868] Chr2:237366784 [GRCh38]
Chr2:238275427 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8389T>C (p.Leu2797=) single nucleotide variant Bethlem myopathy 1A [RCV002064044]|not specified [RCV000602200] Chr2:237340527 [GRCh38]
Chr2:238249170 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9457G>C (p.Gly3153Arg) single nucleotide variant Bethlem myopathy 1A [RCV001070813]|not provided [RCV000595045] Chr2:237325596 [GRCh38]
Chr2:238234239 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3630C>T (p.Arg1210=) single nucleotide variant Bethlem myopathy 1A [RCV002065174]|not provided [RCV000595052] Chr2:237374461 [GRCh38]
Chr2:238283104 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3728G>T (p.Ser1243Ile) single nucleotide variant Inborn genetic diseases [RCV003277173] Chr2:237372289 [GRCh38]
Chr2:238280932 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7402G>A (p.Val2468Ile) single nucleotide variant Bethlem myopathy 1A [RCV000536751]|Inborn genetic diseases [RCV004024370] Chr2:237344616 [GRCh38]
Chr2:238253259 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3117C>T (p.Gly1039=) single nucleotide variant Bethlem myopathy 1A [RCV001499169] Chr2:237374974 [GRCh38]
Chr2:238283617 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2210G>T (p.Ser737Ile) single nucleotide variant not provided [RCV000514981] Chr2:237378923 [GRCh38]
Chr2:238287566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6409-15G>A single nucleotide variant not specified [RCV000606779] Chr2:237358598 [GRCh38]
Chr2:238267241 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7162+11G>A single nucleotide variant Bethlem myopathy 1A [RCV002063251]|not specified [RCV000612630] Chr2:237345047 [GRCh38]
Chr2:238253690 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3654G>A (p.Pro1218=) single nucleotide variant Bethlem myopathy 1A [RCV000560086]|COL6A3-related disorder [RCV004553250] Chr2:237374437 [GRCh38]
Chr2:238283080 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5869G>A (p.Gly1957Arg) single nucleotide variant Bethlem myopathy 1A [RCV000537596]|not provided [RCV001591299] Chr2:237364398 [GRCh38]
Chr2:238273041 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1312+7A>G single nucleotide variant Bethlem myopathy 1A [RCV000533218] Chr2:237387575 [GRCh38]
Chr2:238296218 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp) single nucleotide variant Bethlem myopathy 1A [RCV000555679] Chr2:237345203 [GRCh38]
Chr2:238253846 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3932A>G (p.Asn1311Ser) single nucleotide variant Bethlem myopathy 1A [RCV000653502]|Collagen 6-related myopathy [RCV001139020]|not provided [RCV000730640] Chr2:237372085 [GRCh38]
Chr2:238280728 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653506] Chr2:237344707 [GRCh38]
Chr2:238253350 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653508] Chr2:237342143 [GRCh38]
Chr2:238250786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn) single nucleotide variant Bethlem myopathy 1A [RCV000653511] Chr2:237374667 [GRCh38]
Chr2:238283310 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5690C>T (p.Pro1897Leu) single nucleotide variant Bethlem myopathy 1A [RCV000653513]|Inborn genetic diseases [RCV002536303]|not provided [RCV003144450] Chr2:237365846 [GRCh38]
Chr2:238274489 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) single nucleotide variant Bethlem myopathy 1A [RCV000653525] Chr2:237367193 [GRCh38]
Chr2:238275836 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His) single nucleotide variant Bethlem myopathy 1A [RCV000653526] Chr2:237369157 [GRCh38]
Chr2:238277800 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4270C>T (p.Arg1424Cys) single nucleotide variant Bethlem myopathy 1A [RCV000653534] Chr2:237371747 [GRCh38]
Chr2:238280390 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His) single nucleotide variant Bethlem myopathy 1A [RCV000653550] Chr2:237344350 [GRCh38]
Chr2:238252993 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr) single nucleotide variant Bethlem myopathy 1A [RCV000653554] Chr2:237394587 [GRCh38]
Chr2:238303230 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu) single nucleotide variant Bethlem myopathy 1A [RCV000653555] Chr2:237348359 [GRCh38]
Chr2:238257002 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=) single nucleotide variant Bethlem myopathy 1A [RCV000653556] Chr2:237361121 [GRCh38]
Chr2:238269764 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr) single nucleotide variant Bethlem myopathy 1A [RCV000653562] Chr2:237348623 [GRCh38]
Chr2:238257266 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9407G>A (p.Ser3136Asn) single nucleotide variant Bethlem myopathy 1A [RCV000653573] Chr2:237325646 [GRCh38]
Chr2:238234289 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6212_6309+28del deletion Bethlem myopathy 1A [RCV000653585] Chr2:237359334..237360158 [GRCh38]
Chr2:238267977..238268801 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His) single nucleotide variant Bethlem myopathy 1A [RCV000653587]|Inborn genetic diseases [RCV003163007]|not provided [RCV003144453] Chr2:237358570 [GRCh38]
Chr2:238267213 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3274G>A (p.Val1092Ile) single nucleotide variant Bethlem myopathy 1A [RCV000653588]|Inborn genetic diseases [RCV004025911]|not provided [RCV003144454] Chr2:237374817 [GRCh38]
Chr2:238283460 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=) single nucleotide variant Bethlem myopathy 1A [RCV000653595] Chr2:237374755 [GRCh38]
Chr2:238283398 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7212C>T (p.Ala2404=) single nucleotide variant Bethlem myopathy 1A [RCV000653604] Chr2:237344806 [GRCh38]
Chr2:238253449 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1614G>A (p.Thr538=) single nucleotide variant Bethlem myopathy 1A [RCV000653605] Chr2:237381198 [GRCh38]
Chr2:238289841 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6129C>T (p.Arg2043=) single nucleotide variant Bethlem myopathy 1A [RCV000653611] Chr2:237361766 [GRCh38]
Chr2:238270409 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4617G>A (p.Gly1539=) single nucleotide variant Bethlem myopathy 1A [RCV000653636] Chr2:237368846 [GRCh38]
Chr2:238277489 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6528C>T (p.Leu2176=) single nucleotide variant Bethlem myopathy 1A [RCV000653639]|not provided [RCV003432712] Chr2:237357826 [GRCh38]
Chr2:238266469 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3071-7C>T single nucleotide variant Bethlem myopathy 1A [RCV000653642] Chr2:237375027 [GRCh38]
Chr2:238283670 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3498C>A (p.Gly1166=) single nucleotide variant Bethlem myopathy 1A [RCV000653646] Chr2:237374593 [GRCh38]
Chr2:238283236 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6372T>C (p.Pro2124=) single nucleotide variant Bethlem myopathy 1A [RCV001088916]|not provided [RCV000733876] Chr2:237359071 [GRCh38]
Chr2:238267714 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1149C>T (p.Ala383=) single nucleotide variant Bethlem myopathy 1A [RCV000653654] Chr2:237387745 [GRCh38]
Chr2:238296388 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1620A>G (p.Ser540=) single nucleotide variant Bethlem myopathy 1A [RCV000653681]|not provided [RCV000730259] Chr2:237381192 [GRCh38]
Chr2:238289835 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.186A>G (p.Leu62=) single nucleotide variant Bethlem myopathy 1A [RCV000653685] Chr2:237395110 [GRCh38]
Chr2:238303753 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6654G>T (p.Pro2218=) single nucleotide variant Bethlem myopathy 1A [RCV000653687] Chr2:237353377 [GRCh38]
Chr2:238262020 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_237481970)_(238305480_?)dup duplication Bethlem myopathy 1A [RCV000653690] Chr2:236573327..237396837 [GRCh38]
Chr2:237481970..238305480 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu) single nucleotide variant Bethlem myopathy 1A [RCV000537915] Chr2:237367270 [GRCh38]
Chr2:238275913 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8436C>T (p.Phe2812=) single nucleotide variant Bethlem myopathy 1A [RCV001087482]|not provided [RCV000597108] Chr2:237340480 [GRCh38]
Chr2:238249123 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) single nucleotide variant Bethlem myopathy 1A [RCV001086137]|COL6A3-related disorder [RCV004547733]|not provided [RCV000728968]|not specified [RCV000610463] Chr2:237376848 [GRCh38]
Chr2:238285491 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4323C>T (p.Ile1441=) single nucleotide variant Bethlem myopathy 1A [RCV001505962]|not specified [RCV000613278] Chr2:237369140 [GRCh38]
Chr2:238277783 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter) single nucleotide variant Bethlem myopathy 1A [RCV001854073]|not provided [RCV000597281] Chr2:237369097 [GRCh38]
Chr2:238277740 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) single nucleotide variant Bethlem myopathy 1A [RCV001248017]|Ullrich congenital muscular dystrophy 1A [RCV002225109]|not provided [RCV000597631] Chr2:237359035 [GRCh38]
Chr2:238267678 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9198C>T (p.Val3066=) single nucleotide variant Bethlem myopathy 1A [RCV002530993]|Collagen 6-related myopathy [RCV001138074]|not provided [RCV000597679] Chr2:237334657 [GRCh38]
Chr2:238243300 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2350G>A (p.Ala784Thr) single nucleotide variant Bethlem myopathy 1A [RCV001243630]|not provided [RCV000597915] Chr2:237378783 [GRCh38]
Chr2:238287426 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6639C>T (p.Gly2213=) single nucleotide variant Bethlem myopathy 1A [RCV001078973]|not provided [RCV000595042] Chr2:237353392 [GRCh38]
Chr2:238262035 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.1356C>G (p.Gly452=) single nucleotide variant not specified [RCV000610907] Chr2:237381456 [GRCh38]
Chr2:238290099 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5838+5G>A single nucleotide variant Bethlem myopathy 1A [RCV000653602]|not provided [RCV000595515] Chr2:237365693 [GRCh38]
Chr2:238274336 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp) single nucleotide variant Bethlem myopathy 1A [RCV000557822]|not provided [RCV000598340] Chr2:237360140 [GRCh38]
Chr2:238268783 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr) single nucleotide variant Bethlem myopathy 1A [RCV003517477]|Inborn genetic diseases [RCV003268352] Chr2:237372125 [GRCh38]
Chr2:238280768 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln) single nucleotide variant Bethlem myopathy 1A [RCV000539637]|not provided [RCV003488694] Chr2:237340715 [GRCh38]
Chr2:238249358 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) single nucleotide variant Bethlem myopathy 1A [RCV001428235]|not provided [RCV000730052]|not specified [RCV000614414] Chr2:237394753 [GRCh38]
Chr2:238303396 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9494-7C>T single nucleotide variant Bethlem myopathy 1A [RCV000876580]|not specified [RCV000603489] Chr2:237324821 [GRCh38]
Chr2:238233464 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile) single nucleotide variant Bethlem myopathy 1A [RCV000536246]|not provided [RCV000728838] Chr2:237365742 [GRCh38]
Chr2:238274385 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.624C>T (p.Asp208=) single nucleotide variant Bethlem myopathy 1A [RCV001424737]|not specified [RCV000612031] Chr2:237394672 [GRCh38]
Chr2:238303315 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His) single nucleotide variant Bethlem myopathy 1A [RCV000540239]|not provided [RCV003144375] Chr2:237361778 [GRCh38]
Chr2:238270421 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4104G>A (p.Thr1368=) single nucleotide variant Bethlem myopathy 1A [RCV000540348]|not provided [RCV000591167] Chr2:237371913 [GRCh38]
Chr2:238280556 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1045G>T (p.Val349Leu) single nucleotide variant not provided [RCV000593987] Chr2:237387849 [GRCh38]
Chr2:238296492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu) single nucleotide variant Bethlem myopathy 1A [RCV000526396] Chr2:237368779 [GRCh38]
Chr2:238277422 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6796A>G (p.Thr2266Ala) single nucleotide variant not provided [RCV000595723] Chr2:237351150 [GRCh38]
Chr2:238259793 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8639C>T (p.Thr2880Met) single nucleotide variant Bethlem myopathy 1A [RCV001234226]|Inborn genetic diseases [RCV004024719]|not provided [RCV000594579] Chr2:237336461 [GRCh38]
Chr2:238245104 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8411T>C (p.Leu2804Pro) single nucleotide variant not provided [RCV000512797] Chr2:237340505 [GRCh38]
Chr2:238249148 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3178G>A (p.Val1060Met) single nucleotide variant not provided [RCV000596441] Chr2:237374913 [GRCh38]
Chr2:238283556 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4173G>A (p.Val1391=) single nucleotide variant not provided [RCV000512951] Chr2:237371844 [GRCh38]
Chr2:238280487 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) single nucleotide variant Bethlem myopathy 1A [RCV001472769]|Collagen 6-related myopathy [RCV001137216]|not provided [RCV000595051] Chr2:237395011 [GRCh38]
Chr2:238303654 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys) single nucleotide variant Bethlem myopathy 1A [RCV001341753]|not provided [RCV000595207] Chr2:237367209 [GRCh38]
Chr2:238275852 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3831C>T (p.Ser1277=) single nucleotide variant Bethlem myopathy 1A [RCV002062044]|not provided [RCV000595244] Chr2:237372186 [GRCh38]
Chr2:238280829 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8397C>T (p.Asp2799=) single nucleotide variant not provided [RCV000513280] Chr2:237340519 [GRCh38]
Chr2:238249162 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg) single nucleotide variant Bethlem myopathy 1A [RCV001860425]|Inborn genetic diseases [RCV000623881] Chr2:237360132 [GRCh38]
Chr2:238268775 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.6555T>C (p.Asp2185=) single nucleotide variant Bethlem myopathy 1A [RCV001442625]|not provided [RCV000891731]|not specified [RCV000601102] Chr2:237357374 [GRCh38]
Chr2:238266017 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter) single nucleotide variant not provided [RCV000513623] Chr2:237368839 [GRCh38]
Chr2:238277482 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu) single nucleotide variant Bethlem myopathy 1A [RCV000686418] Chr2:237336239 [GRCh38]
Chr2:238244882 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238025257-238525319)x3 copy number gain not provided [RCV000659212] Chr2:238025257..238525319 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+3A>C single nucleotide variant Bethlem myopathy 1A [RCV002530624]|Neuronopathy, distal hereditary motor, autosomal recessive [RCV000664243] Chr2:237366684 [GRCh38]
Chr2:238275327 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.1897+1G>T single nucleotide variant Bethlem myopathy 1A [RCV000685452] Chr2:237380914 [GRCh38]
Chr2:238289557 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser) single nucleotide variant Bethlem myopathy 1A [RCV000700515]|not provided [RCV000730823] Chr2:237333528 [GRCh38]
Chr2:238242171 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238249548-238646894)x3 copy number gain not provided [RCV000682069] Chr2:238249548..238646894 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238017965-238531976)x3 copy number gain not provided [RCV000682081] Chr2:238017965..238531976 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3626C>T (p.Thr1209Ile) single nucleotide variant not provided [RCV001760536] Chr2:237374465 [GRCh38]
Chr2:238283108 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.2666G>A (p.Arg889His) single nucleotide variant Bethlem myopathy 1A [RCV000698743]|not provided [RCV003144545] Chr2:237377176 [GRCh38]
Chr2:238285819 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu) single nucleotide variant Bethlem myopathy 1A [RCV000698865] Chr2:237367265 [GRCh38]
Chr2:238275908 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8634del (p.Thr2879fs) deletion Abnormality of the musculature [RCV001814343] Chr2:237336466 [GRCh38]
Chr2:238245109 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6902T>C (p.Val2301Ala) single nucleotide variant Bethlem myopathy 1A [RCV000702168]|not provided [RCV000730162] Chr2:237348641 [GRCh38]
Chr2:238257284 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1575G>A (p.Thr525=) single nucleotide variant Bethlem myopathy 1A [RCV000688049] Chr2:237381237 [GRCh38]
Chr2:238289880 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5348C>T (p.Ser1783Leu) single nucleotide variant Bethlem myopathy 1A [RCV000688715] Chr2:237366839 [GRCh38]
Chr2:238275482 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4145C>T (p.Ser1382Leu) single nucleotide variant Bethlem myopathy 1A [RCV000688716]|not provided [RCV003144497] Chr2:237371872 [GRCh38]
Chr2:238280515 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2180A>G (p.Tyr727Cys) single nucleotide variant Bethlem myopathy 1A [RCV000699340] Chr2:237378953 [GRCh38]
Chr2:238287596 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.9494-2A>G single nucleotide variant Bethlem myopathy 1A [RCV000699352]|not provided [RCV001771981] Chr2:237324816 [GRCh38]
Chr2:238233459 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) single nucleotide variant Bethlem myopathy 1A [RCV000700439]|Inborn genetic diseases [RCV003279019] Chr2:237342160 [GRCh38]
Chr2:238250803 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6263C>T (p.Pro2088Leu) single nucleotide variant Bethlem myopathy 1A [RCV000701239]|Collagen 6-related myopathy [RCV001136579]|not provided [RCV003489825] Chr2:237360107 [GRCh38]
Chr2:238268750 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.413C>T (p.Ala138Val) single nucleotide variant Bethlem myopathy 1A [RCV000689827] Chr2:237394883 [GRCh38]
Chr2:238303526 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2195C>T (p.Thr732Met) single nucleotide variant Bethlem myopathy 1A [RCV000694691]|COL6A3-related disorder [RCV004547860]|Collagen 6-related myopathy [RCV001136989]|not provided [RCV001546077] Chr2:237378938 [GRCh38]
Chr2:238287581 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter) single nucleotide variant Bethlem myopathy 1A [RCV000689961] Chr2:237381113 [GRCh38]
Chr2:238289756 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg) single nucleotide variant Bethlem myopathy 1A [RCV000687338]|not provided [RCV003144491] Chr2:237361765 [GRCh38]
Chr2:238270408 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del) deletion Bethlem myopathy 1A [RCV000707125]|Tip-toe gait [RCV003319412] Chr2:237334792..237334794 [GRCh38]
Chr2:238243435..238243437 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8416G>A (p.Glu2806Lys) single nucleotide variant Bethlem myopathy 1A [RCV000693375]|Inborn genetic diseases [RCV004609489]|not provided [RCV003140098] Chr2:237340500 [GRCh38]
Chr2:238249143 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5224C>T (p.Arg1742Trp) single nucleotide variant Bethlem myopathy 1A [RCV000687914] Chr2:237366963 [GRCh38]
Chr2:238275606 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9229+4A>C single nucleotide variant Bethlem myopathy 1A [RCV000690725] Chr2:237334622 [GRCh38]
Chr2:238243265 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) single nucleotide variant Bethlem myopathy 1A [RCV000690824] Chr2:237394715 [GRCh38]
Chr2:238303358 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6452T>C (p.Val2151Ala) single nucleotide variant Bethlem myopathy 1A [RCV000690908]|not provided [RCV001531518] Chr2:237358540 [GRCh38]
Chr2:238267183 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7192G>A (p.Val2398Ile) single nucleotide variant Bethlem myopathy 1A [RCV000707735]|COL6A3-related disorder [RCV004547879]|not provided [RCV001759424] Chr2:237344826 [GRCh38]
Chr2:238253469 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NC_000002.12:g.(?_237358501)_(237361194_?)del deletion Bethlem myopathy 1A [RCV000707815] Chr2:237358501..237361194 [GRCh38]
Chr2:238267144..238269837 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) single nucleotide variant Bethlem myopathy 1A [RCV000705347] Chr2:237372317 [GRCh38]
Chr2:238280960 [GRCh37]
Chr2:2q37.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) single nucleotide variant Bethlem myopathy 1A [RCV000688773] Chr2:237394836 [GRCh38]
Chr2:238303479 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2148C>T (p.Gly716=) single nucleotide variant Bethlem myopathy 1A [RCV000703024] Chr2:237378985 [GRCh38]
Chr2:238287628 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) single nucleotide variant Bethlem myopathy 1A [RCV000691621] Chr2:237363315 [GRCh38]
Chr2:238271958 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9374T>C (p.Ile3125Thr) single nucleotide variant Bethlem myopathy 1A [RCV000699571] Chr2:237325679 [GRCh38]
Chr2:238234322 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6310-2A>G single nucleotide variant Bethlem myopathy 1A [RCV000692116]|Ullrich congenital muscular dystrophy 1A [RCV003338733]|not provided [RCV001784315] Chr2:237359252 [GRCh38]
Chr2:238267895 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly) single nucleotide variant Bethlem myopathy 1A [RCV000706202] Chr2:237395078 [GRCh38]
Chr2:238303721 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) single nucleotide variant Bethlem myopathy 1A [RCV000698415]|not provided [RCV003437400] Chr2:237368734 [GRCh38]
Chr2:238277377 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3575G>A (p.Arg1192His) single nucleotide variant not provided [RCV000710909] Chr2:237374516 [GRCh38]
Chr2:238283159 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) single nucleotide variant Bethlem myopathy 1A [RCV001861954]|not provided [RCV000710910] Chr2:237367120 [GRCh38]
Chr2:238275763 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr) single nucleotide variant Bethlem myopathy 1A [RCV000703939] Chr2:237363339 [GRCh38]
Chr2:238271982 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) single nucleotide variant Bethlem myopathy 1A [RCV000703951] Chr2:237368676 [GRCh38]
Chr2:238277319 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser) single nucleotide variant Bethlem myopathy 1A [RCV000694795] Chr2:237379133 [GRCh38]
Chr2:238287776 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg) single nucleotide variant Bethlem myopathy 1A [RCV000689859] Chr2:237366879 [GRCh38]
Chr2:238275522 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) single nucleotide variant Bethlem myopathy 1A [RCV000704198]|not provided [RCV001772001] Chr2:237368859 [GRCh38]
Chr2:238277502 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser) single nucleotide variant Bethlem myopathy 1A [RCV000704449] Chr2:237366032 [GRCh38]
Chr2:238274675 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8977C>T (p.Arg2993Cys) single nucleotide variant Bethlem myopathy 1A [RCV000695332] Chr2:237334878 [GRCh38]
Chr2:238243521 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His) single nucleotide variant Bethlem myopathy 1A [RCV000702352] Chr2:237336350 [GRCh38]
Chr2:238244993 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) single nucleotide variant Bethlem myopathy 1A [RCV000707261] Chr2:237387763 [GRCh38]
Chr2:238296406 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2845G>A (p.Ala949Thr) single nucleotide variant Bethlem myopathy 1A [RCV000690454]|Collagen 6-related myopathy [RCV001141741]|not provided [RCV000730557] Chr2:237376997 [GRCh38]
Chr2:238285640 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.3271G>A (p.Val1091Ile) single nucleotide variant Bethlem myopathy 1A [RCV000690462]|not provided [RCV003144505] Chr2:237374820 [GRCh38]
Chr2:238283463 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser) single nucleotide variant Bethlem myopathy 1A [RCV000695633] Chr2:237354934 [GRCh38]
Chr2:238263577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr) single nucleotide variant Bethlem myopathy 1A [RCV000702794]|not provided [RCV003144559] Chr2:237388016 [GRCh38]
Chr2:238296659 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser) single nucleotide variant Bethlem myopathy 1A [RCV000695722] Chr2:237360128 [GRCh38]
Chr2:238268771 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+1G>A single nucleotide variant Bethlem myopathy 1A [RCV000705191]|not provided [RCV001093259] Chr2:237359361 [GRCh38]
Chr2:238268004 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5678C>T (p.Thr1893Met) single nucleotide variant Bethlem myopathy 1A [RCV000696126]|Inborn genetic diseases [RCV004026369] Chr2:237365858 [GRCh38]
Chr2:238274501 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe) single nucleotide variant Bethlem myopathy 1A [RCV000703189] Chr2:237361801 [GRCh38]
Chr2:238270444 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro) single nucleotide variant Bethlem myopathy 1A [RCV000696344] Chr2:237378740 [GRCh38]
Chr2:238287383 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) single nucleotide variant Bethlem myopathy 1A [RCV000696477] Chr2:237387825 [GRCh38]
Chr2:238296468 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) single nucleotide variant Bethlem myopathy 1A [RCV000696514]|COL6A3-related disorder [RCV004547861]|Inborn genetic diseases [RCV002533454]|not provided [RCV002289973]|not specified [RCV000785110] Chr2:237377113 [GRCh38]
Chr2:238285756 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) single nucleotide variant Bethlem myopathy 1A [RCV000698564]|not provided [RCV001766518] Chr2:237374535 [GRCh38]
Chr2:238283178 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.2307G>A (p.Ala769=) single nucleotide variant Bethlem myopathy 1A [RCV000696971] Chr2:237378826 [GRCh38]
Chr2:238287469 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) single nucleotide variant Bethlem myopathy 1A [RCV000696947] Chr2:237365984 [GRCh38]
Chr2:238274627 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5180G>A (p.Arg1727Gln) single nucleotide variant Bethlem myopathy 1A [RCV000703610]|not provided [RCV000729520] Chr2:237367007 [GRCh38]
Chr2:238275650 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.9059A>G (p.Tyr3020Cys) single nucleotide variant Bethlem myopathy 1A [RCV000697161]|not provided [RCV000730466] Chr2:237334796 [GRCh38]
Chr2:238243439 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004369.4(COL6A3):c.6064-211A>G single nucleotide variant not provided [RCV001574229] Chr2:237362042 [GRCh38]
Chr2:238270685 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser) single nucleotide variant Bethlem myopathy 1A [RCV000806242] Chr2:237365732 [GRCh38]
Chr2:238274375 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del) deletion Bethlem myopathy 1A [RCV000754721] Chr2:237359238..237359240 [GRCh38]
Chr2:238267881..238267883 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.3(chr2:238245132-239052675)x3 copy number gain not provided [RCV000754757] Chr2:238245132..239052675 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.-30-210TATC[9] microsatellite not provided [RCV001539434] Chr2:237397018..237397021 [GRCh38]
Chr2:238305661..238305664 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3071-206A>T single nucleotide variant not provided [RCV001586567] Chr2:237375226 [GRCh38]
Chr2:238283869 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3012T>C (p.Asp1004=) single nucleotide variant Bethlem myopathy 1A [RCV001401004] Chr2:237376830 [GRCh38]
Chr2:238285473 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1776G>A (p.Leu592=) single nucleotide variant not provided [RCV000918885] Chr2:237381036 [GRCh38]
Chr2:238289679 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.-30-210TATC[11] microsatellite not provided [RCV001680976] Chr2:237397017..237397018 [GRCh38]
Chr2:238305660..238305661 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.92-71G>A single nucleotide variant not provided [RCV001584917] Chr2:237395275 [GRCh38]
Chr2:238303918 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6691-282G>T single nucleotide variant not provided [RCV001611326] Chr2:237352866 [GRCh38]
Chr2:238261509 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8637G>C (p.Thr2879=) single nucleotide variant Bethlem myopathy 1A [RCV001436416] Chr2:237336463 [GRCh38]
Chr2:238245106 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4581C>T (p.Leu1527=) single nucleotide variant Bethlem myopathy 1A [RCV001424333] Chr2:237368882 [GRCh38]
Chr2:238277525 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4901-113_4901-112del microsatellite not provided [RCV001583904] Chr2:237367398..237367399 [GRCh38]
Chr2:238276041..238276042 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe) single nucleotide variant Bethlem myopathy 1A [RCV001043202] Chr2:237387700 [GRCh38]
Chr2:238296343 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8076T>G (p.Tyr2692Ter) single nucleotide variant not provided [RCV000760723] Chr2:237340840 [GRCh38]
Chr2:238249483 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) deletion Bethlem myopathy 1A [RCV000987064] Chr2:237360145..237360155 [GRCh38]
Chr2:238268788..238268798 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1897+163C>G single nucleotide variant not provided [RCV001581261] Chr2:237380752 [GRCh38]
Chr2:238289395 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val) single nucleotide variant Bethlem myopathy 1A [RCV001067517] Chr2:237340802 [GRCh38]
Chr2:238249445 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8568-295_8568-294insA insertion not provided [RCV001581798] Chr2:237336826..237336827 [GRCh38]
Chr2:238245469..238245470 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9230-202G>A single nucleotide variant not provided [RCV001567091] Chr2:237333750 [GRCh38]
Chr2:238242393 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2809G>A (p.Glu937Lys) single nucleotide variant Bethlem myopathy 1A [RCV001045542]|COL6A3-related disorder [RCV004553581] Chr2:237377033 [GRCh38]
Chr2:238285676 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8965+62G>A single nucleotide variant not provided [RCV001582034] Chr2:237336073 [GRCh38]
Chr2:238244716 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5550T>G (p.Asn1850Lys) single nucleotide variant not provided [RCV001549908] Chr2:237365986 [GRCh38]
Chr2:238274629 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282+143G>A single nucleotide variant not provided [RCV001583623] Chr2:237359945 [GRCh38]
Chr2:238268588 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6880-212G>A single nucleotide variant not provided [RCV001568879] Chr2:237348875 [GRCh38]
Chr2:238257518 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3891C>T (p.Asn1297=) single nucleotide variant Bethlem myopathy 1A [RCV002537579] Chr2:237372126 [GRCh38]
Chr2:238280769 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3576C>T (p.Arg1192=) single nucleotide variant Bethlem myopathy 1A [RCV002064877]|COL6A3-related disorder [RCV004549991] Chr2:237374515 [GRCh38]
Chr2:238283158 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.4539A>G (p.Pro1513=) single nucleotide variant Bethlem myopathy 1A [RCV001087741]|not provided [RCV000944796] Chr2:237368924 [GRCh38]
Chr2:238277567 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.354T>G (p.Thr118=) single nucleotide variant Bethlem myopathy 1A [RCV002068655]|not provided [RCV003432896] Chr2:237394942 [GRCh38]
Chr2:238303585 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.913G>A (p.Val305Ile) single nucleotide variant Bethlem myopathy 1A [RCV000878953]|not provided [RCV003159168] Chr2:237387981 [GRCh38]
Chr2:238296624 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6471+8T>C single nucleotide variant Bethlem myopathy 1A [RCV001422471] Chr2:237358513 [GRCh38]
Chr2:238267156 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5975T>C (p.Met1992Thr) single nucleotide variant Bethlem myopathy 1A [RCV000945350] Chr2:237363341 [GRCh38]
Chr2:238271984 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=) single nucleotide variant Bethlem myopathy 1A [RCV000924121]|Dystonia 27 [RCV002298800]|not provided [RCV001726374] Chr2:237368849 [GRCh38]
Chr2:238277492 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1962T>C (p.Asn654=) single nucleotide variant Bethlem myopathy 1A [RCV001441808] Chr2:237379171 [GRCh38]
Chr2:238287814 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5343C>T (p.Ile1781=) single nucleotide variant not provided [RCV000945482] Chr2:237366844 [GRCh38]
Chr2:238275487 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2757G>A (p.Ala919=) single nucleotide variant Bethlem myopathy 1A [RCV000964583]|not provided [RCV003145241] Chr2:237377085 [GRCh38]
Chr2:238285728 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2643C>T (p.Ser881=) single nucleotide variant Bethlem myopathy 1A [RCV000904483]|Collagen 6-related myopathy [RCV001143558] Chr2:237377199 [GRCh38]
Chr2:238285842 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4842A>G (p.Gly1614=) single nucleotide variant Bethlem myopathy 1A [RCV002068690] Chr2:237368621 [GRCh38]
Chr2:238277264 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6264G>A (p.Pro2088=) single nucleotide variant Bethlem myopathy 1A [RCV002542204]|COL6A3-related disorder [RCV004551875] Chr2:237360106 [GRCh38]
Chr2:238268749 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2931C>T (p.Asn977=) single nucleotide variant Bethlem myopathy 1A [RCV000877481] Chr2:237376911 [GRCh38]
Chr2:238285554 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6675G>A (p.Gly2225=) single nucleotide variant Bethlem myopathy 1A [RCV002066070] Chr2:237353356 [GRCh38]
Chr2:238261999 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7746C>A (p.Leu2582=) single nucleotide variant not provided [RCV000922189] Chr2:237342084 [GRCh38]
Chr2:238250727 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7047A>C (p.Pro2349=) single nucleotide variant Bethlem myopathy 1A [RCV001505407] Chr2:237346548 [GRCh38]
Chr2:238255191 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6948T>G (p.Pro2316=) single nucleotide variant not provided [RCV000901360] Chr2:237348367 [GRCh38]
Chr2:238257010 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6009C>T (p.Asp2003=) single nucleotide variant not provided [RCV000944696] Chr2:237363307 [GRCh38]
Chr2:238271950 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1356C>T (p.Gly452=) single nucleotide variant Bethlem myopathy 1A [RCV002540035] Chr2:237381456 [GRCh38]
Chr2:238290099 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6931-6T>C single nucleotide variant Bethlem myopathy 1A [RCV000950998]|Collagen 6-related myopathy [RCV001141288] Chr2:237348390 [GRCh38]
Chr2:238257033 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6912A>G (p.Glu2304=) single nucleotide variant Bethlem myopathy 1A [RCV001477315] Chr2:237348631 [GRCh38]
Chr2:238257274 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4595C>T (p.Ala1532Val) single nucleotide variant Bethlem myopathy 1A [RCV001071004]|Collagen 6-related myopathy [RCV001141517]|Inborn genetic diseases [RCV002555902]|not provided [RCV002291717] Chr2:237368868 [GRCh38]
Chr2:238277511 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter) single nucleotide variant Bethlem myopathy 1A [RCV001037083]|not provided [RCV002245838] Chr2:237378971 [GRCh38]
Chr2:238287614 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe) single nucleotide variant Bethlem myopathy 1A [RCV001053039] Chr2:237364425 [GRCh38]
Chr2:238273068 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val) single nucleotide variant Bethlem myopathy 1A [RCV001065443] Chr2:237363294 [GRCh38]
Chr2:238271937 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3]) duplication Bethlem myopathy 1A [RCV001065471] Chr2:237336445..237336446 [GRCh38]
Chr2:238245088..238245089 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4513C>T (p.Arg1505Cys) single nucleotide variant Bethlem myopathy 1A [RCV001056337] Chr2:237368950 [GRCh38]
Chr2:238277593 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs) deletion Bethlem myopathy 1A [RCV001049713] Chr2:237368564 [GRCh38]
Chr2:238277207 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6859C>T (p.Arg2287Trp) single nucleotide variant Bethlem myopathy 1A [RCV001042023] Chr2:237350167 [GRCh38]
Chr2:238258810 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7963C>G (p.Pro2655Ala) single nucleotide variant Bethlem myopathy 1A [RCV001053582] Chr2:237340953 [GRCh38]
Chr2:238249596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) single nucleotide variant Bethlem myopathy 1A [RCV001069985]|not provided [RCV003992438] Chr2:237381236 [GRCh38]
Chr2:238289879 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser) single nucleotide variant Bethlem myopathy 1A [RCV001050444] Chr2:237369058 [GRCh38]
Chr2:238277701 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys) single nucleotide variant Bethlem myopathy 1A [RCV001050574] Chr2:237374834 [GRCh38]
Chr2:238283477 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.7870T>G (p.Leu2624Val) single nucleotide variant Bethlem myopathy 1A [RCV001070628] Chr2:237341046 [GRCh38]
Chr2:238249689 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys) single nucleotide variant Bethlem myopathy 1A [RCV001060920] Chr2:237378873 [GRCh38]
Chr2:238287516 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1906A>G (p.Asn636Asp) single nucleotide variant Bethlem myopathy 1A [RCV000810338] Chr2:237379227 [GRCh38]
Chr2:238287870 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.439G>A (p.Val147Ile) single nucleotide variant Bethlem myopathy 1A [RCV000793858]|not provided [RCV003432767] Chr2:237394857 [GRCh38]
Chr2:238303500 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7163-2A>G single nucleotide variant Collagen 6-related myopathy [RCV000779317] Chr2:237344954 [GRCh38]
Chr2:238253597 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2144C>T (p.Ser715Leu) single nucleotide variant Bethlem myopathy 1A [RCV000792104]|not provided [RCV003141773] Chr2:237378989 [GRCh38]
Chr2:238287632 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7995A>T (p.Ala2665=) single nucleotide variant Bethlem myopathy 1A [RCV001428276] Chr2:237340921 [GRCh38]
Chr2:238249564 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5277A>G (p.Ala1759=) single nucleotide variant Bethlem myopathy 1A [RCV001489689]|COL6A3-related disorder [RCV004551826] Chr2:237366910 [GRCh38]
Chr2:238275553 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.117T>C (p.Asp39=) single nucleotide variant Bethlem myopathy 1A [RCV000983522] Chr2:237395179 [GRCh38]
Chr2:238303822 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1947C>T (p.Asn649=) single nucleotide variant not provided [RCV000906989] Chr2:237379186 [GRCh38]
Chr2:238287829 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7275C>T (p.Val2425=) single nucleotide variant Bethlem myopathy 1A [RCV000981594] Chr2:237344743 [GRCh38]
Chr2:238253386 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=) single nucleotide variant Bethlem myopathy 1A [RCV001459553]|not provided [RCV000908305] Chr2:237360145 [GRCh38]
Chr2:238268788 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.9249T>A (p.Pro3083=) single nucleotide variant Bethlem myopathy 1A [RCV001427477] Chr2:237333529 [GRCh38]
Chr2:238242172 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5670G>A (p.Val1890=) single nucleotide variant not provided [RCV000919512] Chr2:237365866 [GRCh38]
Chr2:238274509 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7476G>A (p.Ser2492=) single nucleotide variant Bethlem myopathy 1A [RCV001488921]|COL6A3-related disorder [RCV004551897] Chr2:237344542 [GRCh38]
Chr2:238253185 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2601T>C (p.Asn867=) single nucleotide variant Bethlem myopathy 1A [RCV001444029] Chr2:237377241 [GRCh38]
Chr2:238285884 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2937C>T (p.Asp979=) single nucleotide variant not provided [RCV000942958] Chr2:237376905 [GRCh38]
Chr2:238285548 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2145G>C (p.Ser715=) single nucleotide variant Bethlem myopathy 1A [RCV001409553]|COL6A3-related disorder [RCV004553362] Chr2:237378988 [GRCh38]
Chr2:238287631 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.216A>G (p.Gly72=) single nucleotide variant not provided [RCV000977359] Chr2:237395080 [GRCh38]
Chr2:238303723 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1251G>A (p.Pro417=) single nucleotide variant Bethlem myopathy 1A [RCV001405494] Chr2:237387643 [GRCh38]
Chr2:238296286 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8358C>T (p.Phe2786=) single nucleotide variant Bethlem myopathy 1A [RCV000946301]|COL6A3-related disorder [RCV004553386]|not provided [RCV003884821] Chr2:237340558 [GRCh38]
Chr2:238249201 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8373C>T (p.Asn2791=) single nucleotide variant Bethlem myopathy 1A [RCV002064488] Chr2:237340543 [GRCh38]
Chr2:238249186 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6498G>A (p.Glu2166=) single nucleotide variant not provided [RCV000979319] Chr2:237357856 [GRCh38]
Chr2:238266499 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7659C>T (p.Asn2553=) single nucleotide variant Bethlem myopathy 1A [RCV000904536]|Collagen 6-related myopathy [RCV001143033] Chr2:237344359 [GRCh38]
Chr2:238253002 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6538-5A>C single nucleotide variant Bethlem myopathy 1A [RCV000940925] Chr2:237357396 [GRCh38]
Chr2:238266039 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4286-4G>A single nucleotide variant Bethlem myopathy 1A [RCV001411694] Chr2:237369181 [GRCh38]
Chr2:238277824 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8670_8690del (p.2878TTTKPVT[2]) deletion Bethlem myopathy 1A [RCV000892965]|COL6A3-related disorder [RCV004551667]|not provided [RCV001539001] Chr2:237336410..237336430 [GRCh38]
Chr2:238245053..238245073 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6978T>G (p.Gly2326=) single nucleotide variant not provided [RCV000892969] Chr2:237347858 [GRCh38]
Chr2:238256501 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7332G>A (p.Arg2444=) single nucleotide variant not provided [RCV000927286] Chr2:237344686 [GRCh38]
Chr2:238253329 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4293G>A (p.Glu1431=) single nucleotide variant Bethlem myopathy 1A [RCV001450682]|not provided [RCV003438570] Chr2:237369170 [GRCh38]
Chr2:238277813 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1023C>T (p.Arg341=) single nucleotide variant Bethlem myopathy 1A [RCV001451586] Chr2:237387871 [GRCh38]
Chr2:238296514 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6318A>G (p.Val2106=) single nucleotide variant Bethlem myopathy 1A [RCV001498059] Chr2:237359242 [GRCh38]
Chr2:238267885 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.237T>C (p.Ala79=) single nucleotide variant Bethlem myopathy 1A [RCV000977370]|Dystonia 27 [RCV002298808] Chr2:237395059 [GRCh38]
Chr2:238303702 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7434G>T (p.Val2478=) single nucleotide variant not provided [RCV000899560] Chr2:237344584 [GRCh38]
Chr2:238253227 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3861C>T (p.Asn1287=) single nucleotide variant Bethlem myopathy 1A [RCV001406844] Chr2:237372156 [GRCh38]
Chr2:238280799 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7689G>A (p.Gly2563=) single nucleotide variant Bethlem myopathy 1A [RCV001442699] Chr2:237342141 [GRCh38]
Chr2:238250784 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3992G>A (p.Arg1331His) single nucleotide variant Bethlem myopathy 1A [RCV002065952] Chr2:237372025 [GRCh38]
Chr2:238280668 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6967-60A>G single nucleotide variant not provided [RCV000839207] Chr2:237347929 [GRCh38]
Chr2:238256572 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.7668+21G>C single nucleotide variant not provided [RCV000839208] Chr2:238252972 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7668+95C>A single nucleotide variant not provided [RCV000839209] Chr2:237344255 [GRCh38]
Chr2:238252898 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+71C>T single nucleotide variant not provided [RCV000839218] Chr2:237366616 [GRCh38]
Chr2:238275259 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6537+93C>T single nucleotide variant not provided [RCV000839219] Chr2:237357724 [GRCh38]
Chr2:238266367 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6753+102C>G single nucleotide variant not provided [RCV000839220] Chr2:237352420 [GRCh38]
Chr2:238261063 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6538-84T>G single nucleotide variant not provided [RCV000839235] Chr2:237357475 [GRCh38]
Chr2:238266118 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7668+95C>G single nucleotide variant not provided [RCV000839236] Chr2:237344255 [GRCh38]
Chr2:238252898 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu) single nucleotide variant Bethlem myopathy 1A [RCV000822455] Chr2:237374927 [GRCh38]
Chr2:238283570 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3071-286T>C single nucleotide variant not provided [RCV000831055] Chr2:237375306 [GRCh38]
Chr2:238283949 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8568-9T>C single nucleotide variant Bethlem myopathy 1A [RCV001434473]|not provided [RCV000841324] Chr2:237336541 [GRCh38]
Chr2:238245184 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9380A>G (p.Lys3127Arg) single nucleotide variant Bethlem myopathy 1A [RCV000792930] Chr2:237325673 [GRCh38]
Chr2:238234316 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2342C>T (p.Ala781Val) single nucleotide variant Bethlem myopathy 1A [RCV000802726]|not provided [RCV003144622] Chr2:237378791 [GRCh38]
Chr2:238287434 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9494-208A>T single nucleotide variant not provided [RCV000841616] Chr2:237325022 [GRCh38]
Chr2:238233665 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1791C>A (p.Phe597Leu) single nucleotide variant Bethlem myopathy 1A [RCV000823203]|not provided [RCV003317385] Chr2:237381021 [GRCh38]
Chr2:238289664 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr) single nucleotide variant Bethlem myopathy 1A [RCV000810360] Chr2:237350194 [GRCh38]
Chr2:238258837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.262C>T (p.His88Tyr) single nucleotide variant Bethlem myopathy 1A [RCV000814642] Chr2:237395034 [GRCh38]
Chr2:238303677 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3893C>T (p.Ala1298Val) single nucleotide variant Bethlem myopathy 1A [RCV000814671] Chr2:237372124 [GRCh38]
Chr2:238280767 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4901-255G>A single nucleotide variant not provided [RCV000832863] Chr2:237367541 [GRCh38]
Chr2:238276184 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) single nucleotide variant Bethlem myopathy 1A [RCV000798311]|Bethlem myopathy 1A [RCV001535502] Chr2:237381077 [GRCh38]
Chr2:238289720 [GRCh37]
Chr2:2q37.3		 uncertain significance|not provided
NM_004369.4(COL6A3):c.8645C>T (p.Pro2882Leu) single nucleotide variant Bethlem myopathy 1A [RCV000804834] Chr2:237336455 [GRCh38]
Chr2:238245098 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7030-14T>C single nucleotide variant not provided [RCV000842386] Chr2:237346579 [GRCh38]
Chr2:238255222 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.238258810delG deletion Bethlem myopathy 1A [RCV000987062] Chr2:237350167 [GRCh38]
Chr2:238258810 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8627C>T (p.Pro2876Leu) single nucleotide variant Bethlem myopathy 1A [RCV000816271]|not provided [RCV003145189] Chr2:237336473 [GRCh38]
Chr2:238245116 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.764G>A (p.Ser255Asn) single nucleotide variant Bethlem myopathy 1A [RCV000817845]|not provided [RCV001776034] Chr2:237388130 [GRCh38]
Chr2:238296773 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9230-203C>T single nucleotide variant not provided [RCV000837971] Chr2:237333751 [GRCh38]
Chr2:238242394 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=) single nucleotide variant Bethlem myopathy 1A [RCV000816361] Chr2:237359362 [GRCh38]
Chr2:238268005 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu) single nucleotide variant Bethlem myopathy 1A [RCV000805066] Chr2:237359087 [GRCh38]
Chr2:238267730 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7611G>A (p.Gly2537=) single nucleotide variant not provided [RCV000997701] Chr2:237344407 [GRCh38]
Chr2:238253050 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4085T>A (p.Phe1362Tyr) single nucleotide variant Bethlem myopathy 1A [RCV000807534] Chr2:237371932 [GRCh38]
Chr2:238280575 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1727G>A (p.Ser576Asn) single nucleotide variant Bethlem myopathy 1A [RCV000821761] Chr2:237381085 [GRCh38]
Chr2:238289728 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8465-18T>C single nucleotide variant Bethlem myopathy 1A [RCV002536121]|not provided [RCV000840347] Chr2:237339135 [GRCh38]
Chr2:238247778 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln) single nucleotide variant Bethlem myopathy 1A [RCV000811368] Chr2:237352545 [GRCh38]
Chr2:238261188 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8966-321G>A single nucleotide variant not provided [RCV000833101] Chr2:237335210 [GRCh38]
Chr2:238243853 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1312+294G>A single nucleotide variant not provided [RCV000833233] Chr2:237387288 [GRCh38]
Chr2:238295931 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) single nucleotide variant Bethlem myopathy 1A [RCV000800303] Chr2:237377296 [GRCh38]
Chr2:238285939 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3680-225A>T single nucleotide variant not provided [RCV000838638] Chr2:237372562 [GRCh38]
Chr2:238281205 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) single nucleotide variant Bethlem myopathy 1A [RCV000987063] Chr2:237359362 [GRCh38]
Chr2:238268005 [GRCh37]
Chr2:2q37.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) single nucleotide variant Bethlem myopathy 1A [RCV002290033]|Ullrich congenital muscular dystrophy 1A [RCV000785956]|not provided [RCV002510975] Chr2:237363366 [GRCh38]
Chr2:238272009 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.4007T>C (p.Val1336Ala) single nucleotide variant Bethlem myopathy 1A [RCV000820274] Chr2:237372010 [GRCh38]
Chr2:238280653 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5501-150G>T single nucleotide variant not provided [RCV000840555] Chr2:237366185 [GRCh38]
Chr2:238274828 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4286-262A>G single nucleotide variant not provided [RCV000833512] Chr2:237369439 [GRCh38]
Chr2:238278082 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4286-261C>A single nucleotide variant not provided [RCV000833513] Chr2:237369438 [GRCh38]
Chr2:238278081 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) single nucleotide variant Bethlem myopathy 1A [RCV000815355]|not provided [RCV001759585] Chr2:237339060 [GRCh38]
Chr2:238247703 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7328C>T (p.Ala2443Val) single nucleotide variant Bethlem myopathy 1A [RCV000816998] Chr2:237344690 [GRCh38]
Chr2:238253333 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr) single nucleotide variant Bethlem myopathy 1A [RCV000818614] Chr2:237361809 [GRCh38]
Chr2:238270452 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) single nucleotide variant Bethlem myopathy 1A [RCV000802242] Chr2:237395198 [GRCh38]
Chr2:238303841 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6471+106C>T single nucleotide variant not provided [RCV000838872]|not specified [RCV004597895] Chr2:237358415 [GRCh38]
Chr2:238267058 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6472-108C>T single nucleotide variant not provided [RCV000838873]|not specified [RCV004597896] Chr2:237357990 [GRCh38]
Chr2:238266633 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6537+212C>G single nucleotide variant not provided [RCV000838874] Chr2:237357605 [GRCh38]
Chr2:238266248 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6690+238A>C single nucleotide variant not provided [RCV000838875] Chr2:237353103 [GRCh38]
Chr2:238261746 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6690+240A>G single nucleotide variant not provided [RCV000838876] Chr2:237353101 [GRCh38]
Chr2:238261744 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6753+52G>T single nucleotide variant not provided [RCV000838877]|not specified [RCV004597897] Chr2:237352470 [GRCh38]
Chr2:238261113 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met) single nucleotide variant Bethlem myopathy 1A [RCV000820446] Chr2:237377135 [GRCh38]
Chr2:238285778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9486C>T (p.Cys3162=) single nucleotide variant Bethlem myopathy 1A [RCV000960368] Chr2:237325567 [GRCh38]
Chr2:238234210 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6591+297G>A single nucleotide variant not provided [RCV000826884] Chr2:237357041 [GRCh38]
Chr2:238265684 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro) single nucleotide variant Bethlem myopathy 1A [RCV000808885]|Inborn genetic diseases [RCV002538039] Chr2:237377020 [GRCh38]
Chr2:238285663 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3463G>A (p.Val1155Met) single nucleotide variant Bethlem myopathy 1A [RCV000813134] Chr2:237374628 [GRCh38]
Chr2:238283271 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7669-3C>T single nucleotide variant Bethlem myopathy 1A [RCV000796852] Chr2:237342164 [GRCh38]
Chr2:238250807 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6591+5G>A single nucleotide variant Bethlem myopathy 1A [RCV000792276] Chr2:237357333 [GRCh38]
Chr2:238265976 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4286-322C>T single nucleotide variant not provided [RCV000826881] Chr2:237369499 [GRCh38]
Chr2:238278142 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6282+277T>G single nucleotide variant not provided [RCV000826883] Chr2:237359811 [GRCh38]
Chr2:238268454 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn) single nucleotide variant Bethlem myopathy 1A [RCV000808861] Chr2:237394685 [GRCh38]
Chr2:238303328 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5419G>A (p.Glu1807Lys) single nucleotide variant Bethlem myopathy 1A [RCV000812542]|Collagen 6-related myopathy [RCV001143251]|Inborn genetic diseases [RCV002538124]|not provided [RCV003145173] Chr2:237366768 [GRCh38]
Chr2:238275411 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.1452G>T (p.Val484=) single nucleotide variant Bethlem myopathy 1A [RCV000936791] Chr2:237381360 [GRCh38]
Chr2:238290003 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu) single nucleotide variant Bethlem myopathy 1A [RCV000792663] Chr2:237367237 [GRCh38]
Chr2:238275880 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala) single nucleotide variant Bethlem myopathy 1A [RCV000799043] Chr2:237376934 [GRCh38]
Chr2:238285577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) single nucleotide variant Bethlem myopathy 1A [RCV000819528]|Collagen 6-related myopathy [RCV001136581]|not provided [RCV002473152] Chr2:237360146 [GRCh38]
Chr2:238268789 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:238249629-238642460)x3 copy number gain not provided [RCV000848071] Chr2:238249629..238642460 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8965+252T>C single nucleotide variant not provided [RCV000830496] Chr2:237335883 [GRCh38]
Chr2:238244526 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu) single nucleotide variant Bethlem myopathy 1A [RCV000799476] Chr2:237336296 [GRCh38]
Chr2:238244939 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238012305-238526498)x3 copy number gain not provided [RCV000849101] Chr2:238012305..238526498 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser) single nucleotide variant Bethlem myopathy 1A [RCV000796234]|not provided [RCV003489875] Chr2:237361827 [GRCh38]
Chr2:238270470 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp) single nucleotide variant Bethlem myopathy 1A [RCV000812859] Chr2:237336341 [GRCh38]
Chr2:238244984 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3651G>T (p.Gln1217His) single nucleotide variant Bethlem myopathy 1A [RCV000799795]|not provided [RCV004711304] Chr2:237374440 [GRCh38]
Chr2:238283083 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.253G>A (p.Gly85Arg) single nucleotide variant Bethlem myopathy 1A [RCV000799815]|Inborn genetic diseases [RCV002537113]|not provided [RCV003489883] Chr2:237395043 [GRCh38]
Chr2:238303686 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe) single nucleotide variant Bethlem myopathy 1A [RCV000800351] Chr2:237377120 [GRCh38]
Chr2:238285763 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6538-112G>A single nucleotide variant not provided [RCV000841124] Chr2:237357503 [GRCh38]
Chr2:238266146 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6691-115G>A single nucleotide variant not provided [RCV000841192] Chr2:237352699 [GRCh38]
Chr2:238261342 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6816+137G>A single nucleotide variant not provided [RCV000841194] Chr2:237350993 [GRCh38]
Chr2:238259636 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8966-124G>A single nucleotide variant not provided [RCV000841195] Chr2:237335013 [GRCh38]
Chr2:238243656 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=) single nucleotide variant Bethlem myopathy 1A [RCV000796641] Chr2:237363262 [GRCh38]
Chr2:238271905 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6210+172T>C single nucleotide variant not provided [RCV000838656] Chr2:237360949 [GRCh38]
Chr2:238269592 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7669-231A>C single nucleotide variant not provided [RCV000841613] Chr2:237342392 [GRCh38]
Chr2:238251035 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser) single nucleotide variant Bethlem myopathy 1A [RCV000806880] Chr2:237372026 [GRCh38]
Chr2:238280669 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.91+159G>A single nucleotide variant not provided [RCV000838870] Chr2:237396568 [GRCh38]
Chr2:238305211 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6753+53C>T single nucleotide variant not provided [RCV000838878]|not specified [RCV004597898] Chr2:237352469 [GRCh38]
Chr2:238261112 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6628-233C>T single nucleotide variant not provided [RCV000838879] Chr2:237353636 [GRCh38]
Chr2:238262279 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6931-100G>T single nucleotide variant not provided [RCV000838884]|not specified [RCV004597900] Chr2:237348484 [GRCh38]
Chr2:238257127 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.7092+26G>A single nucleotide variant not provided [RCV000838885] Chr2:238255120 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.9494-26C>T single nucleotide variant not provided [RCV000838886] Chr2:238233483 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.6690+39T>C single nucleotide variant not provided [RCV000839059] Chr2:238261945 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5839-103G>A single nucleotide variant not provided [RCV000839204] Chr2:237364531 [GRCh38]
Chr2:238273174 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5917+109G>A single nucleotide variant not provided [RCV000839205] Chr2:237364241 [GRCh38]
Chr2:238272884 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6880-228A>G single nucleotide variant not provided [RCV000839206] Chr2:237348891 [GRCh38]
Chr2:238257534 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) single nucleotide variant Bethlem myopathy 1A [RCV000797321]|not provided [RCV003144604] Chr2:237374780 [GRCh38]
Chr2:238283423 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8966-199A>G single nucleotide variant not provided [RCV000839269] Chr2:237335088 [GRCh38]
Chr2:238243731 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8754G>A (p.Val2918=) single nucleotide variant Bethlem myopathy 1A [RCV000814092] Chr2:237336346 [GRCh38]
Chr2:238244989 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) single nucleotide variant Bethlem myopathy 1A [RCV000818117] Chr2:237365768 [GRCh38]
Chr2:238274411 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) single nucleotide variant Bethlem myopathy 1A [RCV001873199]|Ullrich congenital muscular dystrophy 1A [RCV000785955] Chr2:237344688 [GRCh38]
Chr2:238253331 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4318C>G (p.Leu1440Val) single nucleotide variant Bethlem myopathy 1A [RCV000797975] Chr2:237369145 [GRCh38]
Chr2:238277788 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7356C>G (p.Asn2452Lys) single nucleotide variant Bethlem myopathy 1A [RCV000821625] Chr2:237344662 [GRCh38]
Chr2:238253305 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8045C>T (p.Pro2682Leu) single nucleotide variant Bethlem myopathy 1A [RCV000824279] Chr2:237340871 [GRCh38]
Chr2:238249514 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala) single nucleotide variant Bethlem myopathy 1A [RCV000798199] Chr2:237352560 [GRCh38]
Chr2:238261203 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6817-264G>A single nucleotide variant not provided [RCV000832796] Chr2:237350473 [GRCh38]
Chr2:238259116 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7029+271G>A single nucleotide variant not provided [RCV000832797] Chr2:237347536 [GRCh38]
Chr2:238256179 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8567+337C>A single nucleotide variant not provided [RCV000832881] Chr2:237338678 [GRCh38]
Chr2:238247321 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser) single nucleotide variant Bethlem myopathy 1A [RCV000808534] Chr2:237378717 [GRCh38]
Chr2:238287360 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) single nucleotide variant Bethlem myopathy 1A [RCV000792356]|Tip-toe gait [RCV002227496]|not provided [RCV003144588] Chr2:237366818 [GRCh38]
Chr2:238275461 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|low penetrance
NM_004369.4(COL6A3):c.6966+85_6966+86insT insertion not provided [RCV000837094] Chr2:237348263..237348264 [GRCh38]
Chr2:238256906..238256907 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) single nucleotide variant Bethlem myopathy 1A [RCV000824645]|not provided [RCV001759626] Chr2:237374772 [GRCh38]
Chr2:238283415 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3071-7C>G single nucleotide variant Bethlem myopathy 1A [RCV000815194]|COL6A3-related disorder [RCV004738022] Chr2:237375027 [GRCh38]
Chr2:238283670 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6966+105_6966+106del deletion not provided [RCV000837095] Chr2:237348243..237348244 [GRCh38]
Chr2:238256886..238256887 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8464+12G>A single nucleotide variant Bethlem myopathy 1A [RCV002068571]|not provided [RCV000840904] Chr2:237340440 [GRCh38]
Chr2:238249083 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg) single nucleotide variant Bethlem myopathy 1A [RCV000795081] Chr2:237395036 [GRCh38]
Chr2:238303679 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala) single nucleotide variant Bethlem myopathy 1A [RCV001067153] Chr2:237376897 [GRCh38]
Chr2:238285540 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6592-3C>T single nucleotide variant Bethlem myopathy 1A [RCV002556900]|Collagen 6-related myopathy [RCV001136576] Chr2:237354937 [GRCh38]
Chr2:238263580 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4221C>G (p.Pro1407=) single nucleotide variant Bethlem myopathy 1A [RCV002070593]|Collagen 6-related myopathy [RCV001136782] Chr2:237371796 [GRCh38]
Chr2:238280439 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.6309_6309+1del deletion Bethlem myopathy 1A [RCV001067095] Chr2:237359361..237359362 [GRCh38]
Chr2:238268004..238268005 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val) single nucleotide variant Bethlem myopathy 1A [RCV000806829] Chr2:237368646 [GRCh38]
Chr2:238277289 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8966-321G>C single nucleotide variant not provided [RCV000830517] Chr2:237335210 [GRCh38]
Chr2:238243853 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.661G>A (p.Val221Met) single nucleotide variant Bethlem myopathy 1A [RCV000812642] Chr2:237394635 [GRCh38]
Chr2:238303278 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7029+279G>A single nucleotide variant not provided [RCV000830928] Chr2:237347528 [GRCh38]
Chr2:238256171 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.5337G>A (p.Arg1779=) single nucleotide variant Bethlem myopathy 1A [RCV002070591]|Collagen 6-related myopathy [RCV001136680] Chr2:237366850 [GRCh38]
Chr2:238275493 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5112C>T (p.Asp1704=) single nucleotide variant Bethlem myopathy 1A [RCV002070592]|Collagen 6-related myopathy [RCV001136683] Chr2:237367075 [GRCh38]
Chr2:238275718 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+5G>T single nucleotide variant Bethlem myopathy 1A [RCV000812200] Chr2:237374407 [GRCh38]
Chr2:238283050 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1313-303T>C single nucleotide variant not provided [RCV000832862] Chr2:237381802 [GRCh38]
Chr2:238290445 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) single nucleotide variant Bethlem myopathy 1A [RCV000818049]|not provided [RCV003318646] Chr2:237344728 [GRCh38]
Chr2:238253371 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val) single nucleotide variant Bethlem myopathy 1A [RCV000812237] Chr2:237360131 [GRCh38]
Chr2:238268774 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7766-263C>T single nucleotide variant not provided [RCV000830495] Chr2:237341413 [GRCh38]
Chr2:238250056 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8965+302G>A single nucleotide variant not provided [RCV000830497] Chr2:237335833 [GRCh38]
Chr2:238244476 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8966-318C>A single nucleotide variant not provided [RCV000830518] Chr2:237335207 [GRCh38]
Chr2:238243850 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp) single nucleotide variant Bethlem myopathy 1A [RCV000814977] Chr2:237378759 [GRCh38]
Chr2:238287402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3680-230T>C single nucleotide variant not provided [RCV000840003] Chr2:237372567 [GRCh38]
Chr2:238281210 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3680-107T>C single nucleotide variant not provided [RCV000840004] Chr2:237372444 [GRCh38]
Chr2:238281087 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.6592-27delC deletion not provided [RCV000828573]   likely benign
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys) single nucleotide variant Bethlem myopathy 1A [RCV000802042] Chr2:237358549 [GRCh38]
Chr2:238267192 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6157-54G>C single nucleotide variant not provided [RCV000840556]|not specified [RCV004597904] Chr2:237361228 [GRCh38]
Chr2:238269871 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6759C>T (p.Ser2253=) single nucleotide variant Bethlem myopathy 1A [RCV002064724] Chr2:237351187 [GRCh38]
Chr2:238259830 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6966+167C>T single nucleotide variant not provided [RCV000837096] Chr2:237348182 [GRCh38]
Chr2:238256825 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7030-77C>T single nucleotide variant not provided [RCV000837097] Chr2:237346642 [GRCh38]
Chr2:238255285 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.7175-32G>A single nucleotide variant not provided [RCV000837098] Chr2:238253518 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9229+245T>A single nucleotide variant not provided [RCV000837099] Chr2:237334381 [GRCh38]
Chr2:238243024 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9230-173T>C single nucleotide variant not provided [RCV000837100] Chr2:237333721 [GRCh38]
Chr2:238242364 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2066C>T (p.Thr689Met) single nucleotide variant Bethlem myopathy 1A [RCV000807560]|Inborn genetic diseases [RCV002537255]|not provided [RCV001558584] Chr2:237379067 [GRCh38]
Chr2:238287710 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2959G>A (p.Val987Met) single nucleotide variant Bethlem myopathy 1A [RCV000812938]|Inborn genetic diseases [RCV002538138]|not provided [RCV003145175] Chr2:237376883 [GRCh38]
Chr2:238285526 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4048G>A (p.Asp1350Asn) single nucleotide variant Bethlem myopathy 1A [RCV000815824] Chr2:237371969 [GRCh38]
Chr2:238280612 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu) single nucleotide variant Bethlem myopathy 1A [RCV000819109]|Inborn genetic diseases [RCV002535496] Chr2:237366965 [GRCh38]
Chr2:238275608 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn) single nucleotide variant Bethlem myopathy 1A [RCV000822649] Chr2:237371976 [GRCh38]
Chr2:238280619 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7770C>T (p.Ile2590=) single nucleotide variant Bethlem myopathy 1A [RCV001399816] Chr2:237341146 [GRCh38]
Chr2:238249789 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6408+91C>T single nucleotide variant not provided [RCV000837806] Chr2:237358944 [GRCh38]
Chr2:238267587 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7093-243C>G single nucleotide variant not provided [RCV000837807] Chr2:237345456 [GRCh38]
Chr2:238254099 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7356C>T (p.Asn2452=) single nucleotide variant Bethlem myopathy 1A [RCV001427770] Chr2:237344662 [GRCh38]
Chr2:238253305 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp) single nucleotide variant Bethlem myopathy 1A [RCV000811049] Chr2:237372095 [GRCh38]
Chr2:238280738 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8628G>A (p.Pro2876=) single nucleotide variant Bethlem myopathy 1A [RCV000873885] Chr2:237336472 [GRCh38]
Chr2:238245115 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5244T>A (p.Phe1748Leu) single nucleotide variant Bethlem myopathy 1A [RCV000800086] Chr2:237366943 [GRCh38]
Chr2:238275586 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6156+54A>G single nucleotide variant not provided [RCV000838350] Chr2:237361685 [GRCh38]
Chr2:238270328 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2277T>G (p.Tyr759Ter) single nucleotide variant not provided [RCV000784972] Chr2:237378856 [GRCh38]
Chr2:238287499 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7038G>A (p.Ser2346=) single nucleotide variant Bethlem myopathy 1A [RCV000937744] Chr2:237346557 [GRCh38]
Chr2:238255200 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6888C>T (p.Asp2296=) single nucleotide variant Bethlem myopathy 1A [RCV000960747] Chr2:237348655 [GRCh38]
Chr2:238257298 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-252T>C single nucleotide variant not provided [RCV000826882] Chr2:237362083 [GRCh38]
Chr2:238270726 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4286-313A>C single nucleotide variant not provided [RCV000831990] Chr2:237369490 [GRCh38]
Chr2:238278133 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) single nucleotide variant Bethlem myopathy 1A [RCV000816889] Chr2:237368960 [GRCh38]
Chr2:238277603 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.3:c.7669-35C>T single nucleotide variant not provided [RCV000841642] Chr2:238250839 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter) single nucleotide variant Bethlem myopathy 1A [RCV000811569] Chr2:237378702 [GRCh38]
Chr2:238287345 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6816+98C>T single nucleotide variant not provided [RCV000838880]|not specified [RCV004597899] Chr2:237351032 [GRCh38]
Chr2:238259675 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6690+134A>G single nucleotide variant not provided [RCV000838881] Chr2:237353207 [GRCh38]
Chr2:238261850 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.3:c.6880-47T>C single nucleotide variant not provided [RCV000838882] Chr2:238257353 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8965+203A>G single nucleotide variant not provided [RCV000838883] Chr2:237335932 [GRCh38]
Chr2:238244575 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8464+196T>A single nucleotide variant not provided [RCV000839210] Chr2:237340256 [GRCh38]
Chr2:238248899 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8464+242C>T single nucleotide variant not provided [RCV000839211] Chr2:237340210 [GRCh38]
Chr2:238248853 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9494-6G>T single nucleotide variant Bethlem myopathy 1A [RCV000871534] Chr2:237324820 [GRCh38]
Chr2:238233463 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5811C>T (p.Phe1937=) single nucleotide variant Bethlem myopathy 1A [RCV001486607] Chr2:237365725 [GRCh38]
Chr2:238274368 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) single nucleotide variant Bethlem myopathy 1A [RCV000820914]|COL6A3-related disorder [RCV004549898] Chr2:237361130 [GRCh38]
Chr2:238269773 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile) single nucleotide variant Bethlem myopathy 1A [RCV000804588] Chr2:237372028 [GRCh38]
Chr2:238280671 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3790G>A (p.Val1264Met) single nucleotide variant Bethlem myopathy 1A [RCV000823856]|Bethlem myopathy 1A [RCV001535668]|not provided [RCV004726695] Chr2:237372227 [GRCh38]
Chr2:238280870 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance|not provided
NM_004369.4(COL6A3):c.289C>T (p.Arg97Cys) single nucleotide variant Bethlem myopathy 1A [RCV000812051] Chr2:237395007 [GRCh38]
Chr2:238303650 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met) single nucleotide variant Bethlem myopathy 1A [RCV000814486] Chr2:237374734 [GRCh38]
Chr2:238283377 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) single nucleotide variant Bethlem myopathy 1A [RCV000814533] Chr2:237340659 [GRCh38]
Chr2:238249302 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) single nucleotide variant Bethlem myopathy 1A [RCV001222898]|Inborn genetic diseases [RCV002549978]|not provided [RCV000997702] Chr2:237344567 [GRCh38]
Chr2:238253210 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4285+1G>T single nucleotide variant not provided [RCV000997705] Chr2:237371731 [GRCh38]
Chr2:238280374 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) single nucleotide variant Bethlem myopathy 1A [RCV001007810]|Multiple joint contractures [RCV000850319] Chr2:237387909 [GRCh38]
Chr2:238296552 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238255685-238473810)x1 copy number loss not provided [RCV001005382] Chr2:238255685..238473810 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1420A>G (p.Arg474Gly) single nucleotide variant Bethlem myopathy 1A [RCV001068649] Chr2:237381392 [GRCh38]
Chr2:238290035 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
GRCh37/hg19 2q37.3(chr2:238198334-238414335)x3 copy number gain not provided [RCV000848559] Chr2:238198334..238414335 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp) single nucleotide variant Bethlem myopathy 1A [RCV001066204] Chr2:237394716 [GRCh38]
Chr2:238303359 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser) single nucleotide variant Bethlem myopathy 1A [RCV001211531] Chr2:237361775 [GRCh38]
Chr2:238270418 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6039G>A (p.Leu2013=) single nucleotide variant Bethlem myopathy 1A [RCV001214018] Chr2:237363277 [GRCh38]
Chr2:238271920 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.108G>A (p.Ala36=) single nucleotide variant Bethlem myopathy 1A [RCV001248491] Chr2:237395188 [GRCh38]
Chr2:238303831 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8584G>A (p.Val2862Ile) single nucleotide variant Bethlem myopathy 1A [RCV001213561]|not provided [RCV003145395] Chr2:237336516 [GRCh38]
Chr2:238245159 [GRCh37]
Chr2:2q37.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala) single nucleotide variant Bethlem myopathy 1A [RCV001222351] Chr2:237336311 [GRCh38]
Chr2:238244954 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1874G>C (p.Arg625Thr) single nucleotide variant Bethlem myopathy 1A [RCV001238642]|Inborn genetic diseases [RCV004034583] Chr2:237380938 [GRCh38]
Chr2:238289581 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly) single nucleotide variant Bethlem myopathy 1A [RCV001236733]|not provided [RCV003145456] Chr2:237344472 [GRCh38]
Chr2:238253115 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro) single nucleotide variant Bethlem myopathy 1A [RCV001222084] Chr2:237340649 [GRCh38]
Chr2:238249292 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5716T>C (p.Tyr1906His) single nucleotide variant Bethlem myopathy 1A [RCV001216135]|Inborn genetic diseases [RCV003163661] Chr2:237365820 [GRCh38]
Chr2:238274463 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser) single nucleotide variant Bethlem myopathy 1A [RCV001226483] Chr2:237381053 [GRCh38]
Chr2:238289696 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly) single nucleotide variant Bethlem myopathy 1A [RCV001203342] Chr2:237366836 [GRCh38]
Chr2:238275479 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2567G>A (p.Arg856His) single nucleotide variant Bethlem myopathy 1A [RCV001224491]|not provided [RCV001547869] Chr2:237377275 [GRCh38]
Chr2:238285918 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) single nucleotide variant Bethlem myopathy 1A [RCV001203509] Chr2:237381373 [GRCh38]
Chr2:238290016 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg) single nucleotide variant Bethlem myopathy 1A [RCV001234703] Chr2:237369167 [GRCh38]
Chr2:238277810 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) single nucleotide variant Bethlem myopathy 1A [RCV001224945]|not provided [RCV001760218] Chr2:237340704 [GRCh38]
Chr2:238249347 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=) single nucleotide variant Bethlem myopathy 1A [RCV001209499] Chr2:237325636 [GRCh38]
Chr2:238234279 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg) single nucleotide variant Bethlem myopathy 1A [RCV001206911] Chr2:237374766 [GRCh38]
Chr2:238283409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4932G>A (p.Leu1644=) single nucleotide variant Bethlem myopathy 1A [RCV001210055] Chr2:237367255 [GRCh38]
Chr2:238275898 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.709+4A>G single nucleotide variant Bethlem myopathy 1A [RCV001221603] Chr2:237394583 [GRCh38]
Chr2:238303226 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly) single nucleotide variant Bethlem myopathy 1A [RCV001209915] Chr2:237377272 [GRCh38]
Chr2:238285915 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly) single nucleotide variant Bethlem myopathy 1A [RCV001210462]|not provided [RCV003490123] Chr2:237376963 [GRCh38]
Chr2:238285606 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7612A>G (p.Ile2538Val) single nucleotide variant Bethlem myopathy 1A [RCV001210321]|Inborn genetic diseases [RCV003163598] Chr2:237344406 [GRCh38]
Chr2:238253049 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.87A>T (p.Gln29His) single nucleotide variant Bethlem myopathy 1A [RCV001225508] Chr2:237396731 [GRCh38]
Chr2:238305374 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7363A>G (p.Thr2455Ala) single nucleotide variant Bethlem myopathy 1A [RCV001225918] Chr2:237344655 [GRCh38]
Chr2:238253298 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7174+5G>A single nucleotide variant Bethlem myopathy 1A [RCV001226544] Chr2:237344936 [GRCh38]
Chr2:238253579 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8695A>G (p.Ile2899Val) single nucleotide variant Bethlem myopathy 1A [RCV001201793]|Inborn genetic diseases [RCV004033511] Chr2:237336405 [GRCh38]
Chr2:238245048 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser) single nucleotide variant Bethlem myopathy 1A [RCV001235870] Chr2:237369018 [GRCh38]
Chr2:238277661 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282G>A (p.Lys2094=) single nucleotide variant not provided [RCV000997703] Chr2:237360088 [GRCh38]
Chr2:238268731 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala) single nucleotide variant Bethlem myopathy 1A [RCV001211400] Chr2:237381143 [GRCh38]
Chr2:238289786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2902G>A (p.Val968Ile) single nucleotide variant Bethlem myopathy 1A [RCV001233879] Chr2:237376940 [GRCh38]
Chr2:238285583 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.432G>C (p.Gln144His) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850422] Chr2:237394864 [GRCh38]
Chr2:238303507 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6257G>T (p.Gly2086Val) single nucleotide variant COL6A3-related phenotype [RCV000984995] Chr2:237360113 [GRCh38]
Chr2:238268756 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238249629-238646952)x3 copy number gain not provided [RCV000845811] Chr2:238249629..238646952 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6355-2dup duplication Bethlem myopathy 1A [RCV001245856] Chr2:237359089..237359090 [GRCh38]
Chr2:238267732..238267733 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His) single nucleotide variant Bethlem myopathy 1A [RCV001201706] Chr2:237381185 [GRCh38]
Chr2:238289828 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) single nucleotide variant Bethlem myopathy 1A [RCV001224175]|Inborn genetic diseases [RCV004033490]|Ullrich congenital muscular dystrophy 1A [RCV002225126]|not provided [RCV001200647] Chr2:237366911 [GRCh38]
Chr2:238275554 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) single nucleotide variant Bethlem myopathy 1A [RCV002557050]|Collagen 6-related myopathy [RCV001143145] Chr2:237354904 [GRCh38]
Chr2:238263547 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) single nucleotide variant Bethlem myopathy 1A [RCV001614481] Chr2:237360090 [GRCh38]
Chr2:238268733 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4285+14G>A single nucleotide variant Bethlem myopathy 1A [RCV002070725]|COL6A3-related disorder [RCV004548026]|Collagen 6-related myopathy [RCV001143353] Chr2:237371718 [GRCh38]
Chr2:238280361 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4285+13C>T single nucleotide variant Bethlem myopathy 1A [RCV003517301]|Collagen 6-related myopathy [RCV001143354] Chr2:237371719 [GRCh38]
Chr2:238280362 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys) single nucleotide variant Bethlem myopathy 1A [RCV001247633] Chr2:237367218 [GRCh38]
Chr2:238275861 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.2153A>G (p.Asn718Ser) single nucleotide variant Bethlem myopathy 1A [RCV001229286]|Inborn genetic diseases [RCV002563722]|not provided [RCV003142190] Chr2:237378980 [GRCh38]
Chr2:238287623 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6151C>A (p.Pro2051Thr) single nucleotide variant Bethlem myopathy 1A [RCV001230299]|Collagen 6-related myopathy [RCV002221267]|not provided [RCV003145438] Chr2:237361744 [GRCh38]
Chr2:238270387 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4064C>T (p.Pro1355Leu) single nucleotide variant Bethlem myopathy 1A [RCV001229622]|not provided [RCV003145435] Chr2:237371953 [GRCh38]
Chr2:238280596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=) single nucleotide variant Bethlem myopathy 1A [RCV001215355]|Collagen 6-related myopathy [RCV001138188] Chr2:237340606 [GRCh38]
Chr2:238249249 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu) single nucleotide variant Bethlem myopathy 1A [RCV001247863] Chr2:237344445 [GRCh38]
Chr2:238253088 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4698G>A (p.Ser1566=) single nucleotide variant Bethlem myopathy 1A [RCV003115072] Chr2:237368765 [GRCh38]
Chr2:238277408 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His) single nucleotide variant Bethlem myopathy 1A [RCV003114854] Chr2:237336239 [GRCh38]
Chr2:238244882 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe) single nucleotide variant Bethlem myopathy 1A [RCV003114946] Chr2:237341148 [GRCh38]
Chr2:238249791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4291G>C (p.Glu1431Gln) single nucleotide variant not specified [RCV003123442] Chr2:237369172 [GRCh38]
Chr2:238277815 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6283-14G>A single nucleotide variant Bethlem myopathy 1A [RCV003105182] Chr2:237359402 [GRCh38]
Chr2:238268045 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu) single nucleotide variant Bethlem myopathy 1A [RCV003117258] Chr2:237346555 [GRCh38]
Chr2:238255198 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu) single nucleotide variant Bethlem myopathy 1A [RCV003106415] Chr2:237387606 [GRCh38]
Chr2:238296249 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5688C>A (p.Gly1896=) single nucleotide variant Bethlem myopathy 1A [RCV003106898] Chr2:237365848 [GRCh38]
Chr2:238274491 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr) single nucleotide variant Bethlem myopathy 1A [RCV003106599] Chr2:237334842 [GRCh38]
Chr2:238243485 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8567+281C>G single nucleotide variant not provided [RCV001575670] Chr2:237338734 [GRCh38]
Chr2:238247377 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1898-109A>C single nucleotide variant not provided [RCV001549691] Chr2:237379344 [GRCh38]
Chr2:238287987 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.861C>G (p.Ser287Arg) single nucleotide variant not provided [RCV001576139] Chr2:237388033 [GRCh38]
Chr2:238296676 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.91+194C>A single nucleotide variant not provided [RCV001568676] Chr2:237396533 [GRCh38]
Chr2:238305176 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+22T>G single nucleotide variant not provided [RCV001548075] Chr2:237366665 [GRCh38]
Chr2:238275308 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5918-293G>A single nucleotide variant not provided [RCV001575416] Chr2:237363691 [GRCh38]
Chr2:238272334 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4853C>A (p.Ala1618Asp) single nucleotide variant Inborn genetic diseases [RCV003242187] Chr2:237368610 [GRCh38]
Chr2:238277253 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile) single nucleotide variant Bethlem myopathy 1A [RCV003777058]|Inborn genetic diseases [RCV003257664] Chr2:237339016 [GRCh38]
Chr2:238247659 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8465-43A>G single nucleotide variant not provided [RCV001560017] Chr2:237339160 [GRCh38]
Chr2:238247803 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-45G>T single nucleotide variant not provided [RCV001590756] Chr2:237361876 [GRCh38]
Chr2:238270519 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5589C>T (p.Asp1863=) single nucleotide variant Bethlem myopathy 1A [RCV002070382]|COL6A3-related disorder [RCV004550302]|not provided [RCV001531519] Chr2:237365947 [GRCh38]
Chr2:238274590 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity
NM_004369.4(COL6A3):c.5500+231T>G single nucleotide variant not provided [RCV001596404] Chr2:237366456 [GRCh38]
Chr2:238275099 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6063+243G>A single nucleotide variant not provided [RCV001723072] Chr2:237363010 [GRCh38]
Chr2:238271653 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1313-71T>C single nucleotide variant not provided [RCV001561912] Chr2:237381570 [GRCh38]
Chr2:238290213 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) single nucleotide variant Bethlem myopathy 1A [RCV001882656]|not provided [RCV001562776] Chr2:237381061 [GRCh38]
Chr2:238289704 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1898-56G>A single nucleotide variant not provided [RCV001562859] Chr2:237379291 [GRCh38]
Chr2:238287934 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) single nucleotide variant Bethlem myopathy 1A [RCV002032625]|not provided [RCV001557662] Chr2:237352536 [GRCh38]
Chr2:238261179 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4901-24T>A single nucleotide variant not provided [RCV001587097] Chr2:237367310 [GRCh38]
Chr2:238275953 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9229+110A>G single nucleotide variant not provided [RCV001587892] Chr2:237334516 [GRCh38]
Chr2:238243159 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6931-51G>C single nucleotide variant not provided [RCV001592550] Chr2:237348435 [GRCh38]
Chr2:238257078 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.92-99C>A single nucleotide variant not provided [RCV001719659] Chr2:237395303 [GRCh38]
Chr2:238303946 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7093-201C>T single nucleotide variant not provided [RCV001583166] Chr2:237345414 [GRCh38]
Chr2:238254057 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6592-319G>T single nucleotide variant not provided [RCV001552880] Chr2:237355253 [GRCh38]
Chr2:238263896 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6690+177T>G single nucleotide variant not provided [RCV001567223] Chr2:237353164 [GRCh38]
Chr2:238261807 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg) single nucleotide variant Inborn genetic diseases [RCV003271232] Chr2:237359088 [GRCh38]
Chr2:238267731 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.2973G>A (p.Ala991=) single nucleotide variant Bethlem myopathy 1A [RCV001401912] Chr2:237376869 [GRCh38]
Chr2:238285512 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3070+9G>C single nucleotide variant not provided [RCV000952115] Chr2:237376763 [GRCh38]
Chr2:238285406 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4630C>T (p.Leu1544=) single nucleotide variant Bethlem myopathy 1A [RCV001468481] Chr2:237368833 [GRCh38]
Chr2:238277476 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9201A>G (p.Arg3067=) single nucleotide variant not provided [RCV000916704] Chr2:237334654 [GRCh38]
Chr2:238243297 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7122C>T (p.Ile2374=) single nucleotide variant Bethlem myopathy 1A [RCV002542096] Chr2:237345184 [GRCh38]
Chr2:238253827 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5250C>T (p.Ile1750=) single nucleotide variant not provided [RCV000908582] Chr2:237366937 [GRCh38]
Chr2:238275580 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5679G>A (p.Thr1893=) single nucleotide variant Bethlem myopathy 1A [RCV001403261] Chr2:237365857 [GRCh38]
Chr2:238274500 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7254C>T (p.Phe2418=) single nucleotide variant Bethlem myopathy 1A [RCV000952482] Chr2:237344764 [GRCh38]
Chr2:238253407 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8307C>T (p.Phe2769=) single nucleotide variant Bethlem myopathy 1A [RCV000953854] Chr2:237340609 [GRCh38]
Chr2:238249252 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3411C>T (p.Ile1137=) single nucleotide variant Bethlem myopathy 1A [RCV002547241]|not provided [RCV003438627] Chr2:237374680 [GRCh38]
Chr2:238283323 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4383G>A (p.Arg1461=) single nucleotide variant Bethlem myopathy 1A [RCV000875888] Chr2:237369080 [GRCh38]
Chr2:238277723 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7833G>A (p.Ala2611=) single nucleotide variant Bethlem myopathy 1A [RCV000917922] Chr2:237341083 [GRCh38]
Chr2:238249726 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4494G>A (p.Pro1498=) single nucleotide variant Bethlem myopathy 1A [RCV001499229] Chr2:237368969 [GRCh38]
Chr2:238277612 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3531C>G (p.Thr1177=) single nucleotide variant Bethlem myopathy 1A [RCV000954804] Chr2:237374560 [GRCh38]
Chr2:238283203 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9051T>A (p.Pro3017=) single nucleotide variant Bethlem myopathy 1A [RCV001478675] Chr2:237334804 [GRCh38]
Chr2:238243447 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7851C>T (p.Asp2617=) single nucleotide variant Bethlem myopathy 1A [RCV003631167] Chr2:237341065 [GRCh38]
Chr2:238249708 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1092C>T (p.Tyr364=) single nucleotide variant Bethlem myopathy 1A [RCV000946325]|COL6A3-related disorder [RCV004553387]|not provided [RCV003145238] Chr2:237387802 [GRCh38]
Chr2:238296445 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.249C>T (p.Phe83=) single nucleotide variant Bethlem myopathy 1A [RCV001435913]|not provided [RCV000932923] Chr2:237395047 [GRCh38]
Chr2:238303690 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.8907C>T (p.Val2969=) single nucleotide variant Bethlem myopathy 1A [RCV002540030] Chr2:237336193 [GRCh38]
Chr2:238244836 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3070+4T>C single nucleotide variant Bethlem myopathy 1A [RCV002064878]|COL6A3-related disorder [RCV004549992] Chr2:237376768 [GRCh38]
Chr2:238285411 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1521A>G (p.Glu507=) single nucleotide variant Bethlem myopathy 1A [RCV001447407] Chr2:237381291 [GRCh38]
Chr2:238289934 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5224C>A (p.Arg1742=) single nucleotide variant Bethlem myopathy 1A [RCV001422939] Chr2:237366963 [GRCh38]
Chr2:238275606 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2324G>A (p.Cys775Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001212197] Chr2:237378809 [GRCh38]
Chr2:238287452 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln) single nucleotide variant Bethlem myopathy 1A [RCV001218342] Chr2:237366759 [GRCh38]
Chr2:238275402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val) single nucleotide variant Bethlem myopathy 1A [RCV001225809] Chr2:237366857 [GRCh38]
Chr2:238275500 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val) single nucleotide variant Bethlem myopathy 1A [RCV001068328] Chr2:237377267 [GRCh38]
Chr2:238285910 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg) single nucleotide variant not provided [RCV001093258] Chr2:237358574 [GRCh38]
Chr2:238267217 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) single nucleotide variant Bethlem myopathy 1A [RCV001207650]|not provided [RCV001567205] Chr2:237379091 [GRCh38]
Chr2:238287734 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) single nucleotide variant Bethlem myopathy 1A [RCV001242530] Chr2:237344651 [GRCh38]
Chr2:238253294 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2320T>C (p.Phe774Leu) single nucleotide variant Bethlem myopathy 1A [RCV001071432]|Collagen 6-related myopathy [RCV001143561]|not provided [RCV003883547] Chr2:237378813 [GRCh38]
Chr2:238287456 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter) single nucleotide variant Bethlem myopathy 1A [RCV001208029] Chr2:237340635 [GRCh38]
Chr2:238249278 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys) single nucleotide variant Bethlem myopathy 1A [RCV001242991] Chr2:237360153 [GRCh38]
Chr2:238268796 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys) single nucleotide variant Bethlem myopathy 1A [RCV001243017]|not provided [RCV003145472] Chr2:237377179 [GRCh38]
Chr2:238285822 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4514G>A (p.Arg1505His) single nucleotide variant Bethlem myopathy 1A [RCV001244836] Chr2:237368949 [GRCh38]
Chr2:238277592 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser) single nucleotide variant Bethlem myopathy 1A [RCV001244925] Chr2:237387608 [GRCh38]
Chr2:238296251 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) single nucleotide variant Bethlem myopathy 1A [RCV001007787] Chr2:237380972 [GRCh38]
Chr2:238289615 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln) single nucleotide variant Bethlem myopathy 1A [RCV001208113] Chr2:237350166 [GRCh38]
Chr2:238258809 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7819A>G (p.Arg2607Gly) single nucleotide variant Bethlem myopathy 1A [RCV001208128] Chr2:237341097 [GRCh38]
Chr2:238249740 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu) single nucleotide variant Bethlem myopathy 1A [RCV001236466]|not provided [RCV003145454] Chr2:237374420 [GRCh38]
Chr2:238283063 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) deletion Bethlem myopathy 1A [RCV001007862] Chr2:237342110 [GRCh38]
Chr2:238250753 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6879+13C>T single nucleotide variant Bethlem myopathy 1A [RCV002032347]|Collagen 6-related myopathy [RCV001141290] Chr2:237350134 [GRCh38]
Chr2:238258777 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr) single nucleotide variant Bethlem myopathy 1A [RCV001232179] Chr2:237371924 [GRCh38]
Chr2:238280567 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) single nucleotide variant Bethlem myopathy 1A [RCV001036273]|Inborn genetic diseases [RCV002551351]|not provided [RCV001579718] Chr2:237365759 [GRCh38]
Chr2:238274402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys) single nucleotide variant Bethlem myopathy 1A [RCV001036350] Chr2:237347857 [GRCh38]
Chr2:238256500 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln) single nucleotide variant Bethlem myopathy 1A [RCV001227349]|Inborn genetic diseases [RCV002563113] Chr2:237333470 [GRCh38]
Chr2:238242113 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4777G>T (p.Val1593Phe) single nucleotide variant Collagen 6-related myopathy [RCV001141516] Chr2:237368686 [GRCh38]
Chr2:238277329 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6146T>G (p.Ile2049Ser) single nucleotide variant Collagen 6-related myopathy [RCV001138819] Chr2:237361749 [GRCh38]
Chr2:238270392 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4973T>C (p.Val1658Ala) single nucleotide variant Collagen 6-related myopathy [RCV001138919] Chr2:237367214 [GRCh38]
Chr2:238275857 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1728C>A (p.Ser576Arg) single nucleotide variant Collagen 6-related myopathy [RCV001141868] Chr2:237381084 [GRCh38]
Chr2:238289727 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1597C>T (p.Arg533Cys) single nucleotide variant Bethlem myopathy 1A [RCV001234184]|Dystonia 27 [RCV002295336] Chr2:237381215 [GRCh38]
Chr2:238289858 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe) single nucleotide variant Bethlem myopathy 1A [RCV001223930] Chr2:237387591 [GRCh38]
Chr2:238296234 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5450A>G (p.His1817Arg) single nucleotide variant Bethlem myopathy 1A [RCV001227577] Chr2:237366737 [GRCh38]
Chr2:238275380 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val) single nucleotide variant Bethlem myopathy 1A [RCV001043858] Chr2:237387962 [GRCh38]
Chr2:238296605 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val) single nucleotide variant Bethlem myopathy 1A [RCV001066453] Chr2:237381229 [GRCh38]
Chr2:238289872 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.13C>T (p.Arg5Trp) single nucleotide variant Bethlem myopathy 1A [RCV001206186] Chr2:237396805 [GRCh38]
Chr2:238305448 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile) single nucleotide variant Bethlem myopathy 1A [RCV001067094] Chr2:237342131 [GRCh38]
Chr2:238250774 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) single nucleotide variant Bethlem myopathy 1A [RCV001364104]|Collagen 6-related myopathy [RCV001143250] Chr2:237366767 [GRCh38]
Chr2:238275410 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1551C>G (p.Pro517=) single nucleotide variant Bethlem myopathy 1A [RCV002070729]|Collagen 6-related myopathy [RCV001143663] Chr2:237381261 [GRCh38]
Chr2:238289904 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg) single nucleotide variant Bethlem myopathy 1A [RCV001246750] Chr2:237336272 [GRCh38]
Chr2:238244915 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala) single nucleotide variant Bethlem myopathy 1A [RCV001224968] Chr2:237395105 [GRCh38]
Chr2:238303748 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2512A>T (p.Ile838Phe) single nucleotide variant Bethlem myopathy 1A [RCV001217982]|Inborn genetic diseases [RCV003163675] Chr2:237377330 [GRCh38]
Chr2:238285973 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser) single nucleotide variant Bethlem myopathy 1A [RCV001206972]|not provided [RCV003145377] Chr2:237365946 [GRCh38]
Chr2:238274589 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8513G>C (p.Trp2838Ser) single nucleotide variant not provided [RCV000997700] Chr2:237339069 [GRCh38]
Chr2:238247712 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.870C>G (p.Pro290=) single nucleotide variant not provided [RCV000997707] Chr2:237388024 [GRCh38]
Chr2:238296667 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.522A>G (p.Ala174=) single nucleotide variant Bethlem myopathy 1A [RCV001413567] Chr2:237394774 [GRCh38]
Chr2:238303417 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2061T>A (p.Pro687=) single nucleotide variant Bethlem myopathy 1A [RCV000913925] Chr2:237379072 [GRCh38]
Chr2:238287715 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6168A>G (p.Gly2056=) single nucleotide variant Bethlem myopathy 1A [RCV000934783] Chr2:237361163 [GRCh38]
Chr2:238269806 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5067C>T (p.Asp1689=) single nucleotide variant Bethlem myopathy 1A [RCV000935543] Chr2:237367120 [GRCh38]
Chr2:238275763 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7284T>C (p.Ile2428=) single nucleotide variant not provided [RCV000933817] Chr2:237344734 [GRCh38]
Chr2:238253377 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8709A>G (p.Pro2903=) single nucleotide variant Bethlem myopathy 1A [RCV000934853] Chr2:237336391 [GRCh38]
Chr2:238245034 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3070+272T>C single nucleotide variant not provided [RCV001561695] Chr2:237376500 [GRCh38]
Chr2:238285143 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8568-297del deletion not provided [RCV001564489] Chr2:237336829 [GRCh38]
Chr2:238245472 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7765+206G>A single nucleotide variant not provided [RCV001577345] Chr2:237341859 [GRCh38]
Chr2:238250502 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1312+218A>G single nucleotide variant not provided [RCV001551522] Chr2:237387364 [GRCh38]
Chr2:238296007 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6627+243G>T single nucleotide variant not provided [RCV001717529] Chr2:237354656 [GRCh38]
Chr2:238263299 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6628-208G>A single nucleotide variant not provided [RCV001717530] Chr2:237353611 [GRCh38]
Chr2:238262254 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4466A>G (p.Tyr1489Cys) single nucleotide variant not provided [RCV003231891] Chr2:237368997 [GRCh38]
Chr2:238277640 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8626C>G (p.Pro2876Ala) single nucleotide variant Bethlem myopathy 1A [RCV003103174]|not provided [RCV002464750] Chr2:237336474 [GRCh38]
Chr2:238245117 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6472-257A>G single nucleotide variant not provided [RCV001576228] Chr2:237358139 [GRCh38]
Chr2:238266782 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7093-74T>C single nucleotide variant not provided [RCV001636028]|not specified [RCV004598058] Chr2:237345287 [GRCh38]
Chr2:238253930 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.709+200G>A single nucleotide variant not provided [RCV001560941] Chr2:237394387 [GRCh38]
Chr2:238303030 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7093-283_7093-263del deletion not provided [RCV001656335] Chr2:237345476..237345496 [GRCh38]
Chr2:238254119..238254139 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4529G>T (p.Gly1510Val) single nucleotide variant not provided [RCV003236184] Chr2:237368934 [GRCh38]
Chr2:238277577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.710-285C>G single nucleotide variant not provided [RCV001596674] Chr2:237388469 [GRCh38]
Chr2:238297112 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-260A>G single nucleotide variant not provided [RCV001550685] Chr2:237325074 [GRCh38]
Chr2:238233717 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) single nucleotide variant Bethlem myopathy 1A [RCV001044202] Chr2:237372167 [GRCh38]
Chr2:238280810 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7092+279T>C single nucleotide variant not provided [RCV001596618] Chr2:237346224 [GRCh38]
Chr2:238254867 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7029+256G>A single nucleotide variant not provided [RCV001572149] Chr2:237347551 [GRCh38]
Chr2:238256194 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) single nucleotide variant Bethlem myopathy 1A [RCV003517339]|not provided [RCV001594001] Chr2:237374819 [GRCh38]
Chr2:238283462 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6064-71A>G single nucleotide variant not provided [RCV001717087]|not specified [RCV004598135] Chr2:237361902 [GRCh38]
Chr2:238270545 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6063+109del deletion not provided [RCV001598092] Chr2:237363144 [GRCh38]
Chr2:238271787 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.-30-302CCTTC[3] microsatellite not provided [RCV001689354] Chr2:237397139..237397140 [GRCh38]
Chr2:238305782..238305783 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_004369.4(COL6A3):c.6064-170G>C single nucleotide variant not provided [RCV001673285] Chr2:237362001 [GRCh38]
Chr2:238270644 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4901-321T>C single nucleotide variant not provided [RCV001587008] Chr2:237367607 [GRCh38]
Chr2:238276250 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8965+219C>G single nucleotide variant not provided [RCV001718185] Chr2:237335916 [GRCh38]
Chr2:238244559 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7748C>T (p.Thr2583Met) single nucleotide variant Bethlem myopathy 1A [RCV001858936]|Collagen 6-related myopathy [RCV001143032]|not provided [RCV003145359] Chr2:237342082 [GRCh38]
Chr2:238250725 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4021G>A (p.Val1341Ile) single nucleotide variant Bethlem myopathy 1A [RCV001228551] Chr2:237371996 [GRCh38]
Chr2:238280639 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4378A>G (p.Ser1460Gly) single nucleotide variant Collagen 6-related myopathy [RCV001143352]|not provided [RCV003145360] Chr2:237369085 [GRCh38]
Chr2:238277728 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6818G>C (p.Gly2273Ala) single nucleotide variant Collagen 6-related myopathy [RCV001143142]|Inborn genetic diseases [RCV004032725] Chr2:237350208 [GRCh38]
Chr2:238258851 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2401G>A (p.Asp801Asn) single nucleotide variant Collagen 6-related myopathy [RCV001143560] Chr2:237378732 [GRCh38]
Chr2:238287375 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001856741]|Collagen 6-related myopathy [RCV001136578] Chr2:237359208 [GRCh38]
Chr2:238267851 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4184G>T (p.Arg1395Leu) single nucleotide variant Collagen 6-related myopathy [RCV001136783] Chr2:237371833 [GRCh38]
Chr2:238280476 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.-6T>C single nucleotide variant Collagen 6-related myopathy [RCV001137218] Chr2:237396823 [GRCh38]
Chr2:238305466 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1594G>A (p.Val532Ile) single nucleotide variant Bethlem myopathy 1A [RCV001068806]|Inborn genetic diseases [RCV002555872] Chr2:237381218 [GRCh38]
Chr2:238289861 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter) single nucleotide variant Bethlem myopathy 1A [RCV001047280] Chr2:237344352 [GRCh38]
Chr2:238252995 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3810G>C (p.Arg1270=) single nucleotide variant Bethlem myopathy 1A [RCV001402871]|Collagen 6-related myopathy [RCV001141636] Chr2:237372207 [GRCh38]
Chr2:238280850 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5693T>C (p.Val1898Ala) single nucleotide variant Bethlem myopathy 1A [RCV001068091]|Collagen 6-related myopathy [RCV001141404] Chr2:237365843 [GRCh38]
Chr2:238274486 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.*615G>A single nucleotide variant Collagen 6-related myopathy [RCV001140970] Chr2:237324159 [GRCh38]
Chr2:238232802 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.807T>C (p.Leu269=) single nucleotide variant Bethlem myopathy 1A [RCV001882436]|Collagen 6-related myopathy [RCV001141968] Chr2:237388087 [GRCh38]
Chr2:238296730 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.-30-235G>A single nucleotide variant not provided [RCV001669055] Chr2:237397082 [GRCh38]
Chr2:238305725 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.709+96T>C single nucleotide variant not provided [RCV001589341] Chr2:237394491 [GRCh38]
Chr2:238303134 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1125C>T (p.Phe375=) single nucleotide variant Collagen 6-related myopathy [RCV001139346] Chr2:237387769 [GRCh38]
Chr2:238296412 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.-30-83C>T single nucleotide variant not provided [RCV001583108] Chr2:237396930 [GRCh38]
Chr2:238305573 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6880-58G>T single nucleotide variant not provided [RCV001587674] Chr2:237348721 [GRCh38]
Chr2:238257364 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8903A>C (p.Glu2968Ala) single nucleotide variant Bethlem myopathy 1A [RCV001049843] Chr2:237336197 [GRCh38]
Chr2:238244840 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NC_000002.12:g.(?_236573327)_(237388194_?)dup duplication Bethlem myopathy 1A [RCV001033311] Chr2:237481970..238296837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6472-176C>T single nucleotide variant not provided [RCV001725012] Chr2:237358058 [GRCh38]
Chr2:238266701 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1313-42G>A single nucleotide variant not provided [RCV001583440] Chr2:237381541 [GRCh38]
Chr2:238290184 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.92-59T>C single nucleotide variant not provided [RCV001651986]|not specified [RCV004598079] Chr2:237395263 [GRCh38]
Chr2:238303906 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7766-124C>T single nucleotide variant not provided [RCV001582257] Chr2:237341274 [GRCh38]
Chr2:238249917 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6063+160C>T single nucleotide variant not provided [RCV001583879] Chr2:237363093 [GRCh38]
Chr2:238271736 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser) single nucleotide variant Bethlem myopathy 1A [RCV001046090] Chr2:237374811 [GRCh38]
Chr2:238283454 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1514A>G (p.Lys505Arg) single nucleotide variant not provided [RCV001531523] Chr2:237381298 [GRCh38]
Chr2:238289941 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1504C>T (p.His502Tyr) single nucleotide variant not provided [RCV001531524] Chr2:237381308 [GRCh38]
Chr2:238289951 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) single nucleotide variant Bethlem myopathy 1A [RCV002560254]|Ullrich congenital muscular dystrophy 1A [RCV001198749] Chr2:237372332 [GRCh38]
Chr2:238280975 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe) single nucleotide variant Bethlem myopathy 1A [RCV001203572] Chr2:237348642 [GRCh38]
Chr2:238257285 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val) single nucleotide variant Bethlem myopathy 1A [RCV001215798] Chr2:237344801 [GRCh38]
Chr2:238253444 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV001196660] Chr2:237395027 [GRCh38]
Chr2:238303670 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser) single nucleotide variant Bethlem myopathy 1A [RCV001235714] Chr2:237376781 [GRCh38]
Chr2:238285424 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser) single nucleotide variant Bethlem myopathy 1A [RCV001056081]|not provided [RCV003141989] Chr2:237366880 [GRCh38]
Chr2:238275523 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly) single nucleotide variant Bethlem myopathy 1A [RCV001203824] Chr2:237346540 [GRCh38]
Chr2:238255183 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5753G>A (p.Arg1918His) single nucleotide variant Bethlem myopathy 1A [RCV001047150]|not provided [RCV003141972] Chr2:237365783 [GRCh38]
Chr2:238274426 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4813A>G (p.Ile1605Val) single nucleotide variant Bethlem myopathy 1A [RCV001206425] Chr2:237368650 [GRCh38]
Chr2:238277293 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) single nucleotide variant Bethlem myopathy 1A [RCV001056437] Chr2:237372122 [GRCh38]
Chr2:238280765 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) single nucleotide variant Bethlem myopathy 1A [RCV001060409] Chr2:237374460 [GRCh38]
Chr2:238283103 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys) single nucleotide variant Bethlem myopathy 1A [RCV001233465]|not provided [RCV003145445] Chr2:237347838 [GRCh38]
Chr2:238256481 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9487G>C (p.Ala3163Pro) single nucleotide variant Bethlem myopathy 1A [RCV001216214] Chr2:237325566 [GRCh38]
Chr2:238234209 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu) single nucleotide variant Bethlem myopathy 1A [RCV001216317] Chr2:237376798 [GRCh38]
Chr2:238285441 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV001198710] Chr2:237371947 [GRCh38]
Chr2:238280590 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His) single nucleotide variant Bethlem myopathy 1A [RCV001060830] Chr2:237374894 [GRCh38]
Chr2:238283537 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6766G>A (p.Ala2256Thr) single nucleotide variant Bethlem myopathy 1A [RCV001212819] Chr2:237351180 [GRCh38]
Chr2:238259823 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5311G>C (p.Val1771Leu) single nucleotide variant Collagen 6-related myopathy [RCV001136681] Chr2:237366876 [GRCh38]
Chr2:238275519 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5092A>G (p.Thr1698Ala) single nucleotide variant Collagen 6-related myopathy [RCV001138917]|not provided [RCV003153931] Chr2:237367095 [GRCh38]
Chr2:238275738 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5084A>T (p.Asp1695Val) single nucleotide variant Bethlem myopathy 1A [RCV003517299]|Collagen 6-related myopathy [RCV001138918] Chr2:237367103 [GRCh38]
Chr2:238275746 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8289A>C (p.Lys2763Asn) single nucleotide variant Bethlem myopathy 1A [RCV001042774] Chr2:237340627 [GRCh38]
Chr2:238249270 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1217G>T (p.Arg406Leu) single nucleotide variant Collagen 6-related myopathy [RCV001137103] Chr2:237387677 [GRCh38]
Chr2:238296320 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.14G>A (p.Arg5Gln) single nucleotide variant Bethlem myopathy 1A [RCV001371079]|Collagen 6-related myopathy [RCV001137217] Chr2:237396804 [GRCh38]
Chr2:238305447 [GRCh37]
Chr2:2q37.3		 benign|likely benign|uncertain significance
NM_004369.4(COL6A3):c.5020G>A (p.Asp1674Asn) single nucleotide variant Bethlem myopathy 1A [RCV001205451]|not provided [RCV003142132] Chr2:237367167 [GRCh38]
Chr2:238275810 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6128G>A (p.Arg2043His) single nucleotide variant Bethlem myopathy 1A [RCV001212842] Chr2:237361767 [GRCh38]
Chr2:238270410 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser) single nucleotide variant Bethlem myopathy 1A [RCV001213811] Chr2:237336186 [GRCh38]
Chr2:238244829 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7877G>A (p.Ser2626Asn) single nucleotide variant Bethlem myopathy 1A [RCV001237051] Chr2:237341039 [GRCh38]
Chr2:238249682 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) single nucleotide variant Bethlem myopathy 1A [RCV001036825] Chr2:237379062 [GRCh38]
Chr2:238287705 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu) single nucleotide variant Bethlem myopathy 1A [RCV001057850] Chr2:237357384 [GRCh38]
Chr2:238266027 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) single nucleotide variant Bethlem myopathy 1A [RCV001234054] Chr2:237366843 [GRCh38]
Chr2:238275486 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6156+1G>T single nucleotide variant Bethlem myopathy 1A [RCV001202087] Chr2:237361738 [GRCh38]
Chr2:238270381 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) single nucleotide variant Bethlem myopathy 1A [RCV001204957] Chr2:237367223 [GRCh38]
Chr2:238275866 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7438C>T (p.Leu2480=) single nucleotide variant Collagen 6-related myopathy [RCV001138289] Chr2:237344580 [GRCh38]
Chr2:238253223 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser) single nucleotide variant Bethlem myopathy 1A [RCV002032357]|Collagen 6-related myopathy [RCV001143249] Chr2:237366008 [GRCh38]
Chr2:238274651 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val) single nucleotide variant Bethlem myopathy 1A [RCV001214560] Chr2:237369100 [GRCh38]
Chr2:238277743 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) single nucleotide variant Bethlem myopathy 1A [RCV001235162]|not provided [RCV001814285] Chr2:237344541 [GRCh38]
Chr2:238253184 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3696G>A (p.Arg1232=) single nucleotide variant Collagen 6-related myopathy [RCV001143451] Chr2:237372321 [GRCh38]
Chr2:238280964 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2523C>T (p.Leu841=) single nucleotide variant Bethlem myopathy 1A [RCV002070727]|COL6A3-related disorder [RCV004548027]|Collagen 6-related myopathy [RCV001143559] Chr2:237377319 [GRCh38]
Chr2:238285962 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val) single nucleotide variant Bethlem myopathy 1A [RCV001208026]|Inborn genetic diseases [RCV004609658] Chr2:237377144 [GRCh38]
Chr2:238285787 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn) single nucleotide variant Bethlem myopathy 1A [RCV001206994] Chr2:237361739 [GRCh38]
Chr2:238270382 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr) single nucleotide variant Bethlem myopathy 1A [RCV001040611] Chr2:237351171 [GRCh38]
Chr2:238259814 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys) single nucleotide variant Bethlem myopathy 1A [RCV001233595] Chr2:237369081 [GRCh38]
Chr2:238277724 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001202709]|Collagen 6-related myopathy [RCV001143772] Chr2:237394677 [GRCh38]
Chr2:238303320 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr) single nucleotide variant Bethlem myopathy 1A [RCV001228311] Chr2:237381286 [GRCh38]
Chr2:238289929 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8319C>T (p.Gly2773=) single nucleotide variant Bethlem myopathy 1A [RCV001235281] Chr2:237340597 [GRCh38]
Chr2:238249240 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser) single nucleotide variant Bethlem myopathy 1A [RCV001236362] Chr2:237347863 [GRCh38]
Chr2:238256506 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.721G>A (p.Ala241Thr) single nucleotide variant Bethlem myopathy 1A [RCV001208116] Chr2:237388173 [GRCh38]
Chr2:238296816 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5547G>C (p.Gln1849His) single nucleotide variant Bethlem myopathy 1A [RCV001038055] Chr2:237365989 [GRCh38]
Chr2:238274632 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.9499G>A (p.Ala3167Thr) single nucleotide variant Bethlem myopathy 1A [RCV001052359]|not provided [RCV003145299] Chr2:237324809 [GRCh38]
Chr2:238233452 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter) single nucleotide variant Bethlem myopathy 1A [RCV002290634]|not provided [RCV001200646] Chr2:237351159 [GRCh38]
Chr2:238259802 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1812C>T (p.Ile604=) single nucleotide variant Bethlem myopathy 1A [RCV001495743]|not provided [RCV001200648] Chr2:237381000 [GRCh38]
Chr2:238289643 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala) single nucleotide variant Bethlem myopathy 1A [RCV001059556] Chr2:237358523 [GRCh38]
Chr2:238267166 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3679+4C>T single nucleotide variant Bethlem myopathy 1A [RCV001055806] Chr2:237374408 [GRCh38]
Chr2:238283051 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.*51C>G single nucleotide variant Collagen 6-related myopathy [RCV001140971] Chr2:237324723 [GRCh38]
Chr2:238233366 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8954C>G (p.Thr2985Ser) single nucleotide variant Collagen 6-related myopathy [RCV001141062] Chr2:237336146 [GRCh38]
Chr2:238244789 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) single nucleotide variant Bethlem myopathy 1A [RCV001064083]|not provided [RCV003142009] Chr2:237358531 [GRCh38]
Chr2:238267174 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del) deletion not provided [RCV001093260] Chr2:237365866..237365874 [GRCh38]
Chr2:238274509..238274517 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly) single nucleotide variant Bethlem myopathy 1A [RCV001049684] Chr2:237340626 [GRCh38]
Chr2:238249269 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly) single nucleotide variant Bethlem myopathy 1A [RCV001035519] Chr2:237372238 [GRCh38]
Chr2:238280881 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn) single nucleotide variant Bethlem myopathy 1A [RCV001064234] Chr2:237358544 [GRCh38]
Chr2:238267187 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.3874A>G (p.Lys1292Glu) single nucleotide variant Collagen 6-related myopathy [RCV001141634] Chr2:237372143 [GRCh38]
Chr2:238280786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2938C>A (p.Pro980Thr) single nucleotide variant Collagen 6-related myopathy [RCV001141740] Chr2:237376904 [GRCh38]
Chr2:238285547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2706T>C (p.Leu902=) single nucleotide variant Collagen 6-related myopathy [RCV001141743] Chr2:237377136 [GRCh38]
Chr2:238285779 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser) single nucleotide variant Bethlem myopathy 1A [RCV001064653] Chr2:237336237 [GRCh38]
Chr2:238244880 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5744G>A (p.Arg1915Gln) single nucleotide variant Bethlem myopathy 1A [RCV001040527]|Inborn genetic diseases [RCV003243415] Chr2:237365792 [GRCh38]
Chr2:238274435 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.6558A>G (p.Gly2186=) single nucleotide variant Collagen 6-related myopathy [RCV001136577] Chr2:237357371 [GRCh38]
Chr2:238266014 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6234G>A (p.Val2078=) single nucleotide variant Collagen 6-related myopathy [RCV001136580] Chr2:237360136 [GRCh38]
Chr2:238268779 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5123A>G (p.Lys1708Arg) single nucleotide variant Collagen 6-related myopathy [RCV001136682]|Inborn genetic diseases [RCV002556905] Chr2:237367064 [GRCh38]
Chr2:238275707 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) single nucleotide variant Bethlem myopathy 1A [RCV001212744] Chr2:237336230 [GRCh38]
Chr2:238244873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg) single nucleotide variant Bethlem myopathy 1A [RCV001040716] Chr2:237366755 [GRCh38]
Chr2:238275398 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3789C>T (p.Asp1263=) single nucleotide variant Collagen 6-related myopathy [RCV001141637] Chr2:237372228 [GRCh38]
Chr2:238280871 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) single nucleotide variant Bethlem myopathy 1A [RCV002557010]|Collagen 6-related myopathy [RCV001141745]|not provided [RCV003480972] Chr2:237377177 [GRCh38]
Chr2:238285820 [GRCh37]
Chr2:2q37.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.7259G>A (p.Arg2420Gln) single nucleotide variant Bethlem myopathy 1A [RCV001213965]|not provided [RCV001732073] Chr2:237344759 [GRCh38]
Chr2:238253402 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.-88A>G single nucleotide variant Collagen 6-related myopathy [RCV001139462] Chr2:237414010 [GRCh38]
Chr2:238322653 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile) single nucleotide variant Bethlem myopathy 1A [RCV001048086] Chr2:237333497 [GRCh38]
Chr2:238242140 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6394A>T (p.Asn2132Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001056660]|not provided [RCV001772271] Chr2:237359049 [GRCh38]
Chr2:238267692 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser) single nucleotide variant Bethlem myopathy 1A [RCV001062746] Chr2:237347830 [GRCh38]
Chr2:238256473 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1624G>A (p.Gly542Ser) single nucleotide variant Bethlem myopathy 1A [RCV001062883]|Inborn genetic diseases [RCV004030472] Chr2:237381188 [GRCh38]
Chr2:238289831 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4468C>T (p.Leu1490=) single nucleotide variant Collagen 6-related myopathy [RCV001143350] Chr2:237368995 [GRCh38]
Chr2:238277638 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys) single nucleotide variant Bethlem myopathy 1A [RCV001247025] Chr2:237325637 [GRCh38]
Chr2:238234280 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.254G>A (p.Gly85Glu) single nucleotide variant Bethlem myopathy 1A [RCV001215986]|not provided [RCV001751402] Chr2:237395042 [GRCh38]
Chr2:238303685 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6309+10C>G single nucleotide variant Bethlem myopathy 1A [RCV001063376]|not provided [RCV004702621] Chr2:237359352 [GRCh38]
Chr2:238267995 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4690C>T (p.Arg1564Cys) single nucleotide variant Bethlem myopathy 1A [RCV001053143]|Inborn genetic diseases [RCV002553749] Chr2:237368773 [GRCh38]
Chr2:238277416 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg) single nucleotide variant Bethlem myopathy 1A [RCV001038928] Chr2:237348654 [GRCh38]
Chr2:238257297 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His) single nucleotide variant Bethlem myopathy 1A [RCV001039173] Chr2:237381242 [GRCh38]
Chr2:238289885 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile) single nucleotide variant Bethlem myopathy 1A [RCV001063490] Chr2:237367184 [GRCh38]
Chr2:238275827 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8996A>G (p.Glu2999Gly) single nucleotide variant Bethlem myopathy 1A [RCV001053487] Chr2:237334859 [GRCh38]
Chr2:238243502 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter) single nucleotide variant Bethlem myopathy 1A [RCV001063703]|COL6A3-related disorder [RCV004547970] Chr2:237380987 [GRCh38]
Chr2:238289630 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.5544C>A (p.Asp1848Glu) single nucleotide variant Bethlem myopathy 1A [RCV001063898]|COL6A3-related disorder [RCV004547971]|Inborn genetic diseases [RCV002554459]|not provided [RCV003145323] Chr2:237365992 [GRCh38]
Chr2:238274635 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys) single nucleotide variant Bethlem myopathy 1A [RCV001253060]|Bethlem myopathy 1C [RCV004762024] Chr2:237377125 [GRCh38]
Chr2:238285768 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+3A>C single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004690465] Chr2:237359359 [GRCh38]
Chr2:238268002 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.1114G>C (p.Ala372Pro) single nucleotide variant Inborn genetic diseases [RCV004608201] Chr2:237387780 [GRCh38]
Chr2:238296423 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9234del (p.Lys3078fs) deletion Tip-toe gait [RCV003319285] Chr2:237333544 [GRCh38]
Chr2:238242187 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) single nucleotide variant Bethlem myopathy 1A [RCV001964484]|Bethlem myopathy 1A [RCV002482547] Chr2:237387983 [GRCh38]
Chr2:238296626 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) single nucleotide variant Bethlem myopathy 1A [RCV001880089]|Inborn genetic diseases [RCV004035420]|Myopathy [RCV001265214] Chr2:237361768 [GRCh38]
Chr2:238270411 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_004369.4(COL6A3):c.1729A>G (p.Ile577Val) single nucleotide variant not provided [RCV002284849] Chr2:237381083 [GRCh38]
Chr2:238289726 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) single nucleotide variant Bethlem myopathy 1A [RCV001318787] Chr2:237394880 [GRCh38]
Chr2:238303523 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) single nucleotide variant Bethlem myopathy 1A [RCV001329870]|not provided [RCV001508489] Chr2:237367049 [GRCh38]
Chr2:238275692 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp) single nucleotide variant Bethlem myopathy 1A [RCV001297966] Chr2:237354930 [GRCh38]
Chr2:238263573 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001305068] Chr2:237364370 [GRCh38]
Chr2:238273013 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9070G>A (p.Val3024Ile) single nucleotide variant Bethlem myopathy 1A [RCV001338771]|not provided [RCV004590338] Chr2:237334785 [GRCh38]
Chr2:238243428 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2998C>T (p.Pro1000Ser) single nucleotide variant Bethlem myopathy 1A [RCV001350637]|COL6A3-related disorder [RCV004548194]|not provided [RCV003145604] Chr2:237376844 [GRCh38]
Chr2:238285487 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys) single nucleotide variant Bethlem myopathy 1A [RCV001325204]|not provided [RCV003145573] Chr2:237325701 [GRCh38]
Chr2:238234344 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu) single nucleotide variant Bethlem myopathy 1A [RCV001301728] Chr2:237372194 [GRCh38]
Chr2:238280837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) single nucleotide variant Bethlem myopathy 1A [RCV001301009]|Bethlem myopathy 1A [RCV002493588]|Inborn genetic diseases [RCV002541940]|not provided [RCV002509653] Chr2:237387626 [GRCh38]
Chr2:238296269 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val) single nucleotide variant Bethlem myopathy 1A [RCV001317799] Chr2:237395133 [GRCh38]
Chr2:238303776 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_237481970)_(238296837_?)dup duplication Bethlem myopathy 1 [RCV001319705] Chr2:237481970..238296837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser) single nucleotide variant Bethlem myopathy 1A [RCV001302213] Chr2:237325655 [GRCh38]
Chr2:238234298 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser) single nucleotide variant Bethlem myopathy 1A [RCV001337289] Chr2:237344841 [GRCh38]
Chr2:238253484 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser) single nucleotide variant Bethlem myopathy 1A [RCV001314541] Chr2:237381281 [GRCh38]
Chr2:238289924 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238242073)_(238243552_?)del deletion Bethlem myopathy 1A [RCV001351672] Chr2:238242073..238243552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys) single nucleotide variant Bethlem myopathy 1A [RCV001341952] Chr2:237363272 [GRCh38]
Chr2:238271915 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala) single nucleotide variant Bethlem myopathy 1A [RCV001312549] Chr2:237347863 [GRCh38]
Chr2:238256506 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile) single nucleotide variant Bethlem myopathy 1A [RCV001343180] Chr2:237369124 [GRCh38]
Chr2:238277767 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) single nucleotide variant Bethlem myopathy 1A [RCV001337680] Chr2:237333537 [GRCh38]
Chr2:238242180 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9049C>A (p.Pro3017Thr) single nucleotide variant Bethlem myopathy 1A [RCV001349295] Chr2:237334806 [GRCh38]
Chr2:238243449 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu) single nucleotide variant Bethlem myopathy 1A [RCV001308896] Chr2:237344632 [GRCh38]
Chr2:238253275 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.810G>T (p.Glu270Asp) single nucleotide variant Bethlem myopathy 1A [RCV001343399] Chr2:237388084 [GRCh38]
Chr2:238296727 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) single nucleotide variant Bethlem myopathy 1A [RCV001342659] Chr2:237376864 [GRCh38]
Chr2:238285507 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6210+5G>A single nucleotide variant Bethlem myopathy 1A [RCV001327990] Chr2:237361116 [GRCh38]
Chr2:238269759 [GRCh37]
Chr2:2q37.3		 pathogenic|not provided
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala) single nucleotide variant Bethlem myopathy 1A [RCV001314090]|not provided [RCV004770036] Chr2:237388115 [GRCh38]
Chr2:238296758 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8854G>A (p.Val2952Ile) single nucleotide variant Bethlem myopathy 1A [RCV001302333]|Inborn genetic diseases [RCV004609738]|not provided [RCV003145533] Chr2:237336246 [GRCh38]
Chr2:238244889 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3196C>T (p.Arg1066Cys) single nucleotide variant Bethlem myopathy 1A [RCV001321792]|Inborn genetic diseases [RCV004035041]|not provided [RCV003324825] Chr2:237374895 [GRCh38]
Chr2:238283538 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.625A>G (p.Ile209Val) single nucleotide variant Bethlem myopathy 1A [RCV001343855]|Inborn genetic diseases [RCV004036408] Chr2:237394671 [GRCh38]
Chr2:238303314 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4226C>T (p.Thr1409Met) single nucleotide variant Bethlem myopathy 1A [RCV001326405]|Inborn genetic diseases [RCV002546177] Chr2:237371791 [GRCh38]
Chr2:238280434 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5388G>A (p.Ala1796=) single nucleotide variant Bethlem myopathy 1A [RCV001433582] Chr2:237366799 [GRCh38]
Chr2:238275442 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2965T>C (p.Ser989Pro) single nucleotide variant Bethlem myopathy 1A [RCV001337867]|not provided [RCV003145581] Chr2:237376877 [GRCh38]
Chr2:238285520 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3001A>G (p.Lys1001Glu) single nucleotide variant Bethlem myopathy 1A [RCV001298586] Chr2:237376841 [GRCh38]
Chr2:238285484 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6801T>C (p.Gly2267=) single nucleotide variant not provided [RCV001288481] Chr2:237351145 [GRCh38]
Chr2:238259788 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) single nucleotide variant Bethlem myopathy 1A [RCV001367555]|not provided [RCV001567956] Chr2:237344687 [GRCh38]
Chr2:238253330 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001295721]|not provided [RCV003145514] Chr2:237334773 [GRCh38]
Chr2:238243416 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3280G>A (p.Ala1094Thr) single nucleotide variant Bethlem myopathy 1A [RCV001361634]|not provided [RCV001751709] Chr2:237374811 [GRCh38]
Chr2:238283454 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu) single nucleotide variant Bethlem myopathy 1A [RCV003631198]|Inborn genetic diseases [RCV002547584]|not provided [RCV001354331] Chr2:237366923 [GRCh38]
Chr2:238275566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7188C>T (p.Cys2396=) single nucleotide variant Bethlem myopathy 1A [RCV001391994] Chr2:237344830 [GRCh38]
Chr2:238253473 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile) single nucleotide variant Bethlem myopathy 1A [RCV001368438] Chr2:237366831 [GRCh38]
Chr2:238275474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3059C>G (p.Ala1020Gly) single nucleotide variant not provided [RCV001787434] Chr2:237376783 [GRCh38]
Chr2:238285426 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) single nucleotide variant Bethlem myopathy 1A [RCV001359178] Chr2:237387827 [GRCh38]
Chr2:238296470 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.159A>G (p.Glu53=) single nucleotide variant Bethlem myopathy 1A [RCV001414615] Chr2:237395137 [GRCh38]
Chr2:238303780 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.839G>A (p.Arg280Gln) single nucleotide variant Bethlem myopathy 1A [RCV001370688] Chr2:237388055 [GRCh38]
Chr2:238296698 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2497+7C>A single nucleotide variant Bethlem myopathy 1A [RCV001392404] Chr2:237378629 [GRCh38]
Chr2:238287272 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7407C>T (p.Leu2469=) single nucleotide variant Bethlem myopathy 1A [RCV001415034] Chr2:237344611 [GRCh38]
Chr2:238253254 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2302C>T (p.Arg768Cys) single nucleotide variant Bethlem myopathy 1A [RCV001337257]|Inborn genetic diseases [RCV002546811]|not provided [RCV004692579] Chr2:237378831 [GRCh38]
Chr2:238287474 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys) single nucleotide variant Bethlem myopathy 1A [RCV001362668] Chr2:237350148 [GRCh38]
Chr2:238258791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.-30-210TATC[13] microsatellite not provided [RCV001536246] Chr2:237397017..237397018 [GRCh38]
Chr2:238305660..238305661 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser) single nucleotide variant Bethlem myopathy 1A [RCV001371815]|not provided [RCV003145640] Chr2:237348369 [GRCh38]
Chr2:238257012 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8421G>A (p.Glu2807=) single nucleotide variant Bethlem myopathy 1A [RCV001392488] Chr2:237340495 [GRCh38]
Chr2:238249138 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-174G>A single nucleotide variant not provided [RCV001581504] Chr2:237324988 [GRCh38]
Chr2:238233631 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.523A>G (p.Ile175Val) single nucleotide variant Bethlem myopathy 1A [RCV001323815] Chr2:237394773 [GRCh38]
Chr2:238303416 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln) single nucleotide variant Bethlem myopathy 1A [RCV001364093] Chr2:237378780 [GRCh38]
Chr2:238287423 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.64A>G (p.Thr22Ala) single nucleotide variant Bethlem myopathy 1A [RCV001364623] Chr2:237396754 [GRCh38]
Chr2:238305397 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) single nucleotide variant Bethlem myopathy 1A [RCV001337624]|not provided [RCV001664838] Chr2:237340485 [GRCh38]
Chr2:238249128 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6218G>A (p.Arg2073His) single nucleotide variant Bethlem myopathy 1A [RCV001345733] Chr2:237360152 [GRCh38]
Chr2:238268795 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6675G>T (p.Gly2225=) single nucleotide variant Bethlem myopathy 1A [RCV001364213] Chr2:237353356 [GRCh38]
Chr2:238261999 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.453T>G (p.Asp151Glu) single nucleotide variant Bethlem myopathy 1A [RCV001364754] Chr2:237394843 [GRCh38]
Chr2:238303486 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8359G>T (p.Ala2787Ser) single nucleotide variant Bethlem myopathy 1A [RCV001299145] Chr2:237340557 [GRCh38]
Chr2:238249200 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser) single nucleotide variant Bethlem myopathy 1A [RCV001309545] Chr2:237374700 [GRCh38]
Chr2:238283343 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5678C>A (p.Thr1893Lys) single nucleotide variant Bethlem myopathy 1A [RCV001301466] Chr2:237365858 [GRCh38]
Chr2:238274501 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val) single nucleotide variant Bethlem myopathy 1A [RCV001300134]|not provided [RCV003145525] Chr2:237344736 [GRCh38]
Chr2:238253379 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp) single nucleotide variant Bethlem myopathy 1A [RCV001343769] Chr2:237394974 [GRCh38]
Chr2:238303617 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val) single nucleotide variant Bethlem myopathy 1A [RCV001364957]|COL6A3-related disorder [RCV004738269]|not provided [RCV003145623] Chr2:237394880 [GRCh38]
Chr2:238303523 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr) single nucleotide variant Bethlem myopathy 1A [RCV001365074] Chr2:237341003 [GRCh38]
Chr2:238249646 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) single nucleotide variant Bethlem myopathy 1A [RCV001312711] Chr2:237388177 [GRCh38]
Chr2:238296820 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) single nucleotide variant Bethlem myopathy 1A [RCV001871804]|Ullrich congenital muscular dystrophy 1A [RCV001329869] Chr2:237368949 [GRCh38]
Chr2:238277592 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn) single nucleotide variant Bethlem myopathy 1A [RCV001344911] Chr2:237340766 [GRCh38]
Chr2:238249409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7744C>T (p.Leu2582Phe) single nucleotide variant Inborn genetic diseases [RCV003169772]|not provided [RCV001358159] Chr2:237342086 [GRCh38]
Chr2:238250729 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly) single nucleotide variant Bethlem myopathy 1A [RCV001365169] Chr2:237363359 [GRCh38]
Chr2:238272002 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala) single nucleotide variant Bethlem myopathy 1A [RCV001307566] Chr2:237344673 [GRCh38]
Chr2:238253316 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2067G>A (p.Thr689=) single nucleotide variant Bethlem myopathy 1A [RCV001327475] Chr2:237379066 [GRCh38]
Chr2:238287709 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4285+41C>T single nucleotide variant not provided [RCV001310785] Chr2:237371691 [GRCh38]
Chr2:238280334 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) single nucleotide variant Bethlem myopathy 1A [RCV001351090] Chr2:237351130 [GRCh38]
Chr2:238259773 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys) single nucleotide variant Bethlem myopathy 1A [RCV001338832]|Inborn genetic diseases [RCV002547382] Chr2:237378938 [GRCh38]
Chr2:238287581 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5234A>G (p.Gln1745Arg) single nucleotide variant Bethlem myopathy 1A [RCV001363077]|not provided [RCV003145618] Chr2:237366953 [GRCh38]
Chr2:238275596 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) single nucleotide variant Bethlem myopathy 1A [RCV001338878] Chr2:237344627 [GRCh38]
Chr2:238253270 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro) single nucleotide variant Bethlem myopathy 1A [RCV001313327] Chr2:237358531 [GRCh38]
Chr2:238267174 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8147G>T (p.Gly2716Val) single nucleotide variant Bethlem myopathy 1A [RCV001323254] Chr2:237340769 [GRCh38]
Chr2:238249412 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg) single nucleotide variant Bethlem myopathy 1A [RCV001314092] Chr2:237368935 [GRCh38]
Chr2:238277578 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001350485] Chr2:237387915 [GRCh38]
Chr2:238296558 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His) single nucleotide variant Bethlem myopathy 1A [RCV001351304] Chr2:237381320 [GRCh38]
Chr2:238289963 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) single nucleotide variant Bethlem myopathy 1A [RCV001320761] Chr2:237340923 [GRCh38]
Chr2:238249566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4774C>A (p.Leu1592Met) single nucleotide variant Bethlem myopathy 1A [RCV001345249] Chr2:237368689 [GRCh38]
Chr2:238277332 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile) single nucleotide variant Bethlem myopathy 1A [RCV001299319] Chr2:237369018 [GRCh38]
Chr2:238277661 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1537C>T (p.Arg513Trp) single nucleotide variant Bethlem myopathy 1A [RCV001294739]|not provided [RCV001760334] Chr2:237381275 [GRCh38]
Chr2:238289918 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.182T>C (p.Phe61Ser) single nucleotide variant Bethlem myopathy 1A [RCV001342944] Chr2:237395114 [GRCh38]
Chr2:238303757 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His) single nucleotide variant Bethlem myopathy 1A [RCV001308135] Chr2:237365894 [GRCh38]
Chr2:238274537 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys) single nucleotide variant Bethlem myopathy 1A [RCV001344422] Chr2:237381432 [GRCh38]
Chr2:238290075 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His) single nucleotide variant Bethlem myopathy 1A [RCV001294993]|Inborn genetic diseases [RCV002538446] Chr2:237348626 [GRCh38]
Chr2:238257269 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu) single nucleotide variant Bethlem myopathy 1A [RCV001363585] Chr2:237341084 [GRCh38]
Chr2:238249727 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3653C>T (p.Pro1218Leu) single nucleotide variant Bethlem myopathy 1A [RCV001345474]|not provided [RCV002264273] Chr2:237374438 [GRCh38]
Chr2:238283081 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1831G>A (p.Ala611Thr) single nucleotide variant Bethlem myopathy 1A [RCV001373162]|Inborn genetic diseases [RCV002550169] Chr2:237380981 [GRCh38]
Chr2:238289624 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly) single nucleotide variant Bethlem myopathy 1A [RCV001363685] Chr2:237388178 [GRCh38]
Chr2:238296821 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys) single nucleotide variant Bethlem myopathy 1A [RCV001301015]|not provided [RCV003145529] Chr2:237371945 [GRCh38]
Chr2:238280588 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6063+5dup duplication Bethlem myopathy 1A [RCV001344518] Chr2:237363247..237363248 [GRCh38]
Chr2:238271890..238271891 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr) single nucleotide variant Bethlem myopathy 1A [RCV001373257] Chr2:237381496 [GRCh38]
Chr2:238290139 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu) single nucleotide variant Bethlem myopathy 1A [RCV001364329] Chr2:237378755 [GRCh38]
Chr2:238287398 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys) single nucleotide variant Bethlem myopathy 1A [RCV001364382] Chr2:237365788 [GRCh38]
Chr2:238274431 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4644G>A (p.Leu1548=) single nucleotide variant Bethlem myopathy 1A [RCV001326093] Chr2:237368819 [GRCh38]
Chr2:238277462 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3070+6G>A single nucleotide variant Bethlem myopathy 1A [RCV001295772] Chr2:237376766 [GRCh38]
Chr2:238285409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn) single nucleotide variant Bethlem myopathy 1A [RCV001296763] Chr2:237365994 [GRCh38]
Chr2:238274637 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala) single nucleotide variant Bethlem myopathy 1A [RCV001341780] Chr2:237366869 [GRCh38]
Chr2:238275512 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4900+3A>G single nucleotide variant Bethlem myopathy 1A [RCV001326310] Chr2:237368560 [GRCh38]
Chr2:238277203 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233407)_(238305470_?)dup duplication Bethlem myopathy 1A [RCV001308816] Chr2:238233407..238305470 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) single nucleotide variant Bethlem myopathy 1A [RCV001329872] Chr2:237350200 [GRCh38]
Chr2:238258843 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7322G>A (p.Arg2441Gln) single nucleotide variant Bethlem myopathy 1A [RCV001296118]|not provided [RCV003145515] Chr2:237344696 [GRCh38]
Chr2:238253339 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8640G>C (p.Thr2880=) single nucleotide variant Bethlem myopathy 1A [RCV001394619] Chr2:237336460 [GRCh38]
Chr2:238245103 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1093G>A (p.Gly365Arg) single nucleotide variant Bethlem myopathy 1A [RCV001422002] Chr2:237387801 [GRCh38]
Chr2:238296444 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr) single nucleotide variant Bethlem myopathy 1A [RCV001338673] Chr2:237394712 [GRCh38]
Chr2:238303355 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5696A>G (p.Glu1899Gly) single nucleotide variant Bethlem myopathy 1A [RCV001325707] Chr2:237365840 [GRCh38]
Chr2:238274483 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5127G>A (p.Val1709=) single nucleotide variant Bethlem myopathy 1A [RCV001422003] Chr2:237367060 [GRCh38]
Chr2:238275703 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro) single nucleotide variant Bethlem myopathy 1A [RCV001351525] Chr2:237344810 [GRCh38]
Chr2:238253453 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) single nucleotide variant Bethlem myopathy 1A [RCV001341251]|not provided [RCV001531520] Chr2:237367245 [GRCh38]
Chr2:238275888 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7646G>A (p.Arg2549Gln) single nucleotide variant Bethlem myopathy 1A [RCV001360881]|not provided [RCV003145612] Chr2:237344372 [GRCh38]
Chr2:238253015 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.669A>G (p.Pro223=) single nucleotide variant Bethlem myopathy 1A [RCV001412791] Chr2:237394627 [GRCh38]
Chr2:238303270 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met) single nucleotide variant Bethlem myopathy 1A [RCV001316244] Chr2:237381278 [GRCh38]
Chr2:238289921 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4402A>G (p.Ile1468Val) single nucleotide variant Bethlem myopathy 1A [RCV001365512] Chr2:237369061 [GRCh38]
Chr2:238277704 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5230C>T (p.Pro1744Ser) single nucleotide variant Bethlem myopathy 1A [RCV001359623] Chr2:237366957 [GRCh38]
Chr2:238275600 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser) single nucleotide variant Bethlem myopathy 1A [RCV001365569] Chr2:237374964 [GRCh38]
Chr2:238283607 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val) single nucleotide variant Bethlem myopathy 1A [RCV001314206] Chr2:237374688 [GRCh38]
Chr2:238283331 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1373T>A (p.Leu458Gln) single nucleotide variant Bethlem myopathy 1A [RCV001313188]|COL6A3-related disorder [RCV004738242]|Inborn genetic diseases [RCV002545054]|not provided [RCV002267105] Chr2:237381439 [GRCh38]
Chr2:238290082 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg) single nucleotide variant Bethlem myopathy 1A [RCV001299045] Chr2:237367028 [GRCh38]
Chr2:238275671 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met) single nucleotide variant Bethlem myopathy 1A [RCV001359550] Chr2:237344514 [GRCh38]
Chr2:238253157 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7833G>T (p.Ala2611=) single nucleotide variant Bethlem myopathy 1A [RCV001495384] Chr2:237341083 [GRCh38]
Chr2:238249726 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1563G>A (p.Ser521=) single nucleotide variant Bethlem myopathy 1A [RCV001468392] Chr2:237381249 [GRCh38]
Chr2:238289892 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2241G>A (p.Leu747=) single nucleotide variant Bethlem myopathy 1A [RCV001498681] Chr2:237378892 [GRCh38]
Chr2:238287535 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5718C>T (p.Tyr1906=) single nucleotide variant Bethlem myopathy 1A [RCV001435572] Chr2:237365818 [GRCh38]
Chr2:238274461 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3651G>A (p.Gln1217=) single nucleotide variant Bethlem myopathy 1A [RCV001502080] Chr2:237374440 [GRCh38]
Chr2:238283083 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5457G>A (p.Ala1819=) single nucleotide variant Bethlem myopathy 1A [RCV001457344] Chr2:237366730 [GRCh38]
Chr2:238275373 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4122C>T (p.Asp1374=) single nucleotide variant Bethlem myopathy 1A [RCV001490672] Chr2:237371895 [GRCh38]
Chr2:238280538 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8634T>C (p.Thr2878=) single nucleotide variant Bethlem myopathy 1A [RCV001492417]|not provided [RCV003434284] Chr2:237336466 [GRCh38]
Chr2:238245109 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3273C>T (p.Val1091=) single nucleotide variant Bethlem myopathy 1A [RCV001510375] Chr2:237374818 [GRCh38]
Chr2:238283461 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9328+8G>T single nucleotide variant Bethlem myopathy 1A [RCV001506256] Chr2:237333442 [GRCh38]
Chr2:238242085 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8892G>C (p.Ala2964=) single nucleotide variant Bethlem myopathy 1A [RCV001492577] Chr2:237336208 [GRCh38]
Chr2:238244851 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4497G>A (p.Val1499=) single nucleotide variant Bethlem myopathy 1A [RCV001441867] Chr2:237368966 [GRCh38]
Chr2:238277609 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7581A>G (p.Arg2527=) single nucleotide variant Bethlem myopathy 1A [RCV001462907] Chr2:237344437 [GRCh38]
Chr2:238253080 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1830C>T (p.Ala610=) single nucleotide variant Bethlem myopathy 1A [RCV001462562] Chr2:237380982 [GRCh38]
Chr2:238289625 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7668+297G>A single nucleotide variant not provided [RCV001538569] Chr2:237344053 [GRCh38]
Chr2:238252696 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7608G>A (p.Ala2536=) single nucleotide variant Bethlem myopathy 1A [RCV001455913]|not provided [RCV003145667] Chr2:237344410 [GRCh38]
Chr2:238253053 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2688G>A (p.Lys896=) single nucleotide variant Bethlem myopathy 1A [RCV001459719] Chr2:237377154 [GRCh38]
Chr2:238285797 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8394G>C (p.Val2798=) single nucleotide variant Bethlem myopathy 1A [RCV001505651] Chr2:237340522 [GRCh38]
Chr2:238249165 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6355-4G>T single nucleotide variant Bethlem myopathy 1A [RCV001489233] Chr2:237359092 [GRCh38]
Chr2:238267735 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5136A>G (p.Lys1712=) single nucleotide variant Bethlem myopathy 1A [RCV001453012] Chr2:237367051 [GRCh38]
Chr2:238275694 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2505G>A (p.Lys835=) single nucleotide variant Bethlem myopathy 1A [RCV001439893] Chr2:237377337 [GRCh38]
Chr2:238285980 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_238267977)_238268801del deletion Bethlem myopathy 1 [RCV001383562]   pathogenic
NM_004369.4(COL6A3):c.8670A>G (p.Val2890=) single nucleotide variant Bethlem myopathy 1A [RCV001491724] Chr2:237336430 [GRCh38]
Chr2:238245073 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1587A>T (p.Leu529=) single nucleotide variant Bethlem myopathy 1A [RCV001460827] Chr2:237381225 [GRCh38]
Chr2:238289868 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5832C>T (p.Ser1944=) single nucleotide variant Bethlem myopathy 1A [RCV001467374] Chr2:237365704 [GRCh38]
Chr2:238274347 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5163G>A (p.Val1721=) single nucleotide variant Bethlem myopathy 1A [RCV001488358] Chr2:237367024 [GRCh38]
Chr2:238275667 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5649C>T (p.Pro1883=) single nucleotide variant Bethlem myopathy 1A [RCV001471269] Chr2:237365887 [GRCh38]
Chr2:238274530 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6283-1G>A single nucleotide variant Bethlem myopathy 1A [RCV001389458] Chr2:237359389 [GRCh38]
Chr2:238268032 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs) deletion Bethlem myopathy 1A [RCV001384667] Chr2:237345194 [GRCh38]
Chr2:238253837 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6064-8T>G single nucleotide variant Bethlem myopathy 1A [RCV001443737] Chr2:237361839 [GRCh38]
Chr2:238270482 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2628G>A (p.Ala876=) single nucleotide variant Bethlem myopathy 1A [RCV001448896] Chr2:237377214 [GRCh38]
Chr2:238285857 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4188G>A (p.Glu1396=) single nucleotide variant Bethlem myopathy 1A [RCV001400850] Chr2:237371829 [GRCh38]
Chr2:238280472 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_237481970)_(238305470_?)del deletion Bethlem myopathy 1A [RCV001383561] Chr2:237481970..238305470 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8985C>G (p.Val2995=) single nucleotide variant Bethlem myopathy 1A [RCV001444025] Chr2:237334870 [GRCh38]
Chr2:238243513 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7896G>C (p.Leu2632=) single nucleotide variant Bethlem myopathy 1A [RCV001446758] Chr2:237341020 [GRCh38]
Chr2:238249663 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.792C>T (p.Phe264=) single nucleotide variant Bethlem myopathy 1A [RCV001425830] Chr2:237388102 [GRCh38]
Chr2:238296745 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4389T>G (p.Val1463=) single nucleotide variant Bethlem myopathy 1A [RCV001441544] Chr2:237369074 [GRCh38]
Chr2:238277717 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs) duplication Bethlem myopathy 1A [RCV001381577] Chr2:237361780..237361781 [GRCh38]
Chr2:238270423..238270424 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6880-6T>C single nucleotide variant Bethlem myopathy 1A [RCV001405656] Chr2:237348669 [GRCh38]
Chr2:238257312 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6880-8A>G single nucleotide variant Bethlem myopathy 1A [RCV001423639] Chr2:237348671 [GRCh38]
Chr2:238257314 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8235C>T (p.Gly2745=) single nucleotide variant Bethlem myopathy 1A [RCV001440010] Chr2:237340681 [GRCh38]
Chr2:238249324 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8583C>T (p.Asn2861=) single nucleotide variant Bethlem myopathy 1A [RCV001393625] Chr2:237336517 [GRCh38]
Chr2:238245160 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4285+7T>C single nucleotide variant Bethlem myopathy 1A [RCV001434933] Chr2:237371725 [GRCh38]
Chr2:238280368 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1898-10T>C single nucleotide variant Bethlem myopathy 1A [RCV001447835] Chr2:237379245 [GRCh38]
Chr2:238287888 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6861G>A (p.Arg2287=) single nucleotide variant Bethlem myopathy 1A [RCV001445466] Chr2:237350165 [GRCh38]
Chr2:238258808 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8646G>A (p.Pro2882=) single nucleotide variant Bethlem myopathy 1A [RCV001408897] Chr2:237336454 [GRCh38]
Chr2:238245097 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3219C>T (p.Ser1073=) single nucleotide variant Bethlem myopathy 1A [RCV001436791] Chr2:237374872 [GRCh38]
Chr2:238283515 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6282+9T>C single nucleotide variant Bethlem myopathy 1A [RCV001428480] Chr2:237360079 [GRCh38]
Chr2:238268722 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6754-301C>A single nucleotide variant not provided [RCV001715138] Chr2:237351493 [GRCh38]
Chr2:238260136 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8799A>G (p.Pro2933=) single nucleotide variant Bethlem myopathy 1A [RCV001450419] Chr2:237336301 [GRCh38]
Chr2:238244944 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2748G>C (p.Leu916=) single nucleotide variant Bethlem myopathy 1A [RCV001469036] Chr2:237377094 [GRCh38]
Chr2:238285737 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.966C>A (p.Ile322=) single nucleotide variant Bethlem myopathy 1A [RCV001458395] Chr2:237387928 [GRCh38]
Chr2:238296571 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9328+212A>C single nucleotide variant not provided [RCV001615014] Chr2:237333238 [GRCh38]
Chr2:238241881 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8022C>T (p.Ser2674=) single nucleotide variant Bethlem myopathy 1A [RCV001475924] Chr2:237340894 [GRCh38]
Chr2:238249537 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4828A>G (p.Met1610Val) single nucleotide variant Bethlem myopathy 1A [RCV001458678]|not provided [RCV003145668] Chr2:237368635 [GRCh38]
Chr2:238277278 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.705C>T (p.Ile235=) single nucleotide variant Bethlem myopathy 1A [RCV001462224] Chr2:237394591 [GRCh38]
Chr2:238303234 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.516G>A (p.Val172=) single nucleotide variant Bethlem myopathy 1A [RCV001455179] Chr2:237394780 [GRCh38]
Chr2:238303423 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1656T>G (p.Leu552=) single nucleotide variant Bethlem myopathy 1A [RCV001483104] Chr2:237381156 [GRCh38]
Chr2:238289799 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8208G>T (p.Leu2736=) single nucleotide variant Bethlem myopathy 1A [RCV001469434] Chr2:237340708 [GRCh38]
Chr2:238249351 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2745C>T (p.Asn915=) single nucleotide variant Bethlem myopathy 1A [RCV001487046]|not provided [RCV003145672] Chr2:237377097 [GRCh38]
Chr2:238285740 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2493G>A (p.Gln831=) single nucleotide variant Bethlem myopathy 1A [RCV001487819] Chr2:237378640 [GRCh38]
Chr2:238287283 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2847A>G (p.Ala949=) single nucleotide variant Bethlem myopathy 1A [RCV001453052] Chr2:237376995 [GRCh38]
Chr2:238285638 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_238271294)_238275426del deletion Bethlem myopathy 1 [RCV001379793]   likely pathogenic
NM_004369.4(COL6A3):c.4599G>A (p.Gly1533=) single nucleotide variant Bethlem myopathy 1A [RCV001489912] Chr2:237368864 [GRCh38]
Chr2:238277507 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4866T>A (p.Pro1622=) single nucleotide variant Bethlem myopathy 1A [RCV001405555] Chr2:237368597 [GRCh38]
Chr2:238277240 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5775C>T (p.Leu1925=) single nucleotide variant Bethlem myopathy 1A [RCV001455263] Chr2:237365761 [GRCh38]
Chr2:238274404 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-6C>G single nucleotide variant Bethlem myopathy 1A [RCV001495248] Chr2:237361837 [GRCh38]
Chr2:238270480 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8091G>A (p.Lys2697=) single nucleotide variant Bethlem myopathy 1A [RCV001502243] Chr2:237340825 [GRCh38]
Chr2:238249468 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5997G>A (p.Gly1999=) single nucleotide variant Bethlem myopathy 1A [RCV001442584] Chr2:237363319 [GRCh38]
Chr2:238271962 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.462G>A (p.Ser154=) single nucleotide variant Bethlem myopathy 1A [RCV001502310] Chr2:237394834 [GRCh38]
Chr2:238303477 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter) single nucleotide variant Bethlem myopathy 1A [RCV001390985] Chr2:237378771 [GRCh38]
Chr2:238287414 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2808C>A (p.Ile936=) single nucleotide variant Bethlem myopathy 1A [RCV001406309] Chr2:237377034 [GRCh38]
Chr2:238285677 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8622G>A (p.Thr2874=) single nucleotide variant Bethlem myopathy 1A [RCV001471534] Chr2:237336478 [GRCh38]
Chr2:238245121 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1344C>T (p.Phe448=) single nucleotide variant Bethlem myopathy 1A [RCV001423477] Chr2:237381468 [GRCh38]
Chr2:238290111 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4734C>T (p.Ile1578=) single nucleotide variant Bethlem myopathy 1A [RCV001425581] Chr2:237368729 [GRCh38]
Chr2:238277372 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2376C>T (p.Asn792=) single nucleotide variant Bethlem myopathy 1A [RCV001406735] Chr2:237378757 [GRCh38]
Chr2:238287400 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9329-8T>C single nucleotide variant Bethlem myopathy 1A [RCV001478562] Chr2:237325732 [GRCh38]
Chr2:238234375 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3605C>A (p.Ser1202Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001454190] Chr2:237374486 [GRCh38]
Chr2:238283129 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4095C>G (p.Ala1365=) single nucleotide variant Bethlem myopathy 1A [RCV001463347] Chr2:237371922 [GRCh38]
Chr2:238280565 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.465G>A (p.Lys155=) single nucleotide variant Bethlem myopathy 1A [RCV001398152] Chr2:237394831 [GRCh38]
Chr2:238303474 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2589C>T (p.Ile863=) single nucleotide variant Bethlem myopathy 1A [RCV001483723] Chr2:237377253 [GRCh38]
Chr2:238285896 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3933C>T (p.Asn1311=) single nucleotide variant Bethlem myopathy 1A [RCV001432888] Chr2:237372084 [GRCh38]
Chr2:238280727 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3330C>T (p.Ala1110=) single nucleotide variant Bethlem myopathy 1A [RCV001426542] Chr2:237374761 [GRCh38]
Chr2:238283404 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4011G>T (p.Pro1337=) single nucleotide variant Bethlem myopathy 1A [RCV001441321] Chr2:237372006 [GRCh38]
Chr2:238280649 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.-30-210TATC[12] microsatellite not provided [RCV001527727] Chr2:237397017..237397018 [GRCh38]
Chr2:238305660..238305661 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3414C>T (p.Val1138=) single nucleotide variant Bethlem myopathy 1A [RCV001418423]|COL6A3-related disorder [RCV004550138] Chr2:237374677 [GRCh38]
Chr2:238283320 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2226C>T (p.His742=) single nucleotide variant Bethlem myopathy 1A [RCV001437671] Chr2:237378907 [GRCh38]
Chr2:238287550 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6855G>A (p.Gly2285=) single nucleotide variant Bethlem myopathy 1A [RCV001459830]|COL6A3-related disorder [RCV004550208] Chr2:237350171 [GRCh38]
Chr2:238258814 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7326G>A (p.Gly2442=) single nucleotide variant Bethlem myopathy 1A [RCV001484093] Chr2:237344692 [GRCh38]
Chr2:238253335 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2958C>T (p.Ile986=) single nucleotide variant Bethlem myopathy 1A [RCV001499805]|COL6A3-related disorder [RCV004738324] Chr2:237376884 [GRCh38]
Chr2:238285527 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.267C>T (p.Thr89=) single nucleotide variant Bethlem myopathy 1A [RCV001468378] Chr2:237395029 [GRCh38]
Chr2:238303672 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5176C>A (p.Leu1726Met) single nucleotide variant not provided [RCV001727190] Chr2:237367011 [GRCh38]
Chr2:238275654 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8798C>T (p.Pro2933Leu) single nucleotide variant not provided [RCV001756511] Chr2:237336302 [GRCh38]
Chr2:238244945 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) single nucleotide variant Bethlem myopathy 1A [RCV001730143]|not specified [RCV004699448] Chr2:237350188 [GRCh38]
Chr2:238258831 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1654C>T (p.Leu552Phe) single nucleotide variant Bethlem myopathy 1A [RCV003108309] Chr2:237381158 [GRCh38]
Chr2:238289801 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5174A>C (p.His1725Pro) single nucleotide variant not provided [RCV001727191] Chr2:237367013 [GRCh38]
Chr2:238275656 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) single nucleotide variant Bethlem myopathy 1A [RCV003517343]|not provided [RCV001756539] Chr2:237340707 [GRCh38]
Chr2:238249350 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) deletion Ullrich congenital muscular dystrophy 1A [RCV002227842] Chr2:237340842 [GRCh38]
Chr2:238249485 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4442G>A (p.Ser1481Asn) single nucleotide variant Inborn genetic diseases [RCV003258266] Chr2:237369021 [GRCh38]
Chr2:238277664 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8875G>T (p.Ala2959Ser) single nucleotide variant not provided [RCV001762783] Chr2:237336225 [GRCh38]
Chr2:238244868 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6355-2A>G single nucleotide variant not provided [RCV001780849] Chr2:237359090 [GRCh38]
Chr2:238267733 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.787G>T (p.Asp263Tyr) single nucleotide variant not provided [RCV003238432] Chr2:237388107 [GRCh38]
Chr2:238296750 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5395G>A (p.Val1799Met) single nucleotide variant Bethlem myopathy 1A [RCV002540341]|Inborn genetic diseases [RCV004611865]|not provided [RCV001763415] Chr2:237366792 [GRCh38]
Chr2:238275435 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) single nucleotide variant Bethlem myopathy 1A [RCV003774751]|See cases [RCV002252492] Chr2:237340871 [GRCh38]
Chr2:238249514 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3186G>C (p.Gln1062His) single nucleotide variant See cases [RCV002253029] Chr2:237374905 [GRCh38]
Chr2:238283548 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6754-37G>C single nucleotide variant COL6A3-related disorder [RCV004548244]|not provided [RCV002251643] Chr2:237351229 [GRCh38]
Chr2:238259872 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_004369.4(COL6A3):c.4085T>C (p.Phe1362Ser) single nucleotide variant not provided [RCV001767002] Chr2:237371932 [GRCh38]
Chr2:238280575 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8834T>A (p.Val2945Glu) single nucleotide variant not provided [RCV001772455] Chr2:237336266 [GRCh38]
Chr2:238244909 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) single nucleotide variant Bethlem myopathy 1A [RCV002032735]|not provided [RCV003136129]|not specified [RCV001733611] Chr2:237374474 [GRCh38]
Chr2:238283117 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6617C>G (p.Pro2206Arg) single nucleotide variant not provided [RCV001763258] Chr2:237354909 [GRCh38]
Chr2:238263552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) single nucleotide variant Bethlem myopathy 1A [RCV003771936]|not provided [RCV001773820] Chr2:237363365 [GRCh38]
Chr2:238272008 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2411C>T (p.Ser804Phe) single nucleotide variant not provided [RCV001773915] Chr2:237378722 [GRCh38]
Chr2:238287365 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) single nucleotide variant Bethlem myopathy 1A [RCV001868601]|not provided [RCV001763957] Chr2:237394793 [GRCh38]
Chr2:238303436 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) single nucleotide variant Bethlem myopathy 1A [RCV003517347]|not provided [RCV001774515] Chr2:237364374 [GRCh38]
Chr2:238273017 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8945C>T (p.Pro2982Leu) single nucleotide variant not provided [RCV001754655] Chr2:237336155 [GRCh38]
Chr2:238244798 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3101T>C (p.Leu1034Pro) single nucleotide variant not provided [RCV001772848] Chr2:237374990 [GRCh38]
Chr2:238283633 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7616C>T (p.Thr2539Ile) single nucleotide variant not provided [RCV001772857] Chr2:237344402 [GRCh38]
Chr2:238253045 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1857C>T (p.Gly619=) single nucleotide variant Bethlem myopathy 1A [RCV001885200]|not provided [RCV001786066] Chr2:237380955 [GRCh38]
Chr2:238289598 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1571A>G (p.Tyr524Cys) single nucleotide variant Bethlem myopathy 1A [RCV002543996]|not provided [RCV001768909] Chr2:237381241 [GRCh38]
Chr2:238289884 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8714_8715del (p.Val2905fs) microsatellite not provided [RCV001780850] Chr2:237336385..237336386 [GRCh38]
Chr2:238245028..238245029 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.5678C>G (p.Thr1893Arg) single nucleotide variant not provided [RCV001757125] Chr2:237365858 [GRCh38]
Chr2:238274501 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.589del (p.Met197fs) deletion not provided [RCV003238433] Chr2:237394707 [GRCh38]
Chr2:238303350 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) single nucleotide variant Bethlem myopathy 1A [RCV003107839]|Inborn genetic diseases [RCV002539850]|not provided [RCV001754151] Chr2:237340980 [GRCh38]
Chr2:238249623 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2269G>A (p.Asp757Asn) single nucleotide variant Bethlem myopathy 1A [RCV002032842]|not provided [RCV001767000] Chr2:237378864 [GRCh38]
Chr2:238287507 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8003A>G (p.Gln2668Arg) single nucleotide variant not provided [RCV001771278] Chr2:237340913 [GRCh38]
Chr2:238249556 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5359G>A (p.Gly1787Arg) single nucleotide variant not provided [RCV001761152] Chr2:237366828 [GRCh38]
Chr2:238275471 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs) deletion Bethlem myopathy 1A [RCV001806416] Chr2:237344636 [GRCh38]
Chr2:238253279 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) single nucleotide variant Bethlem myopathy 1A [RCV001882833]|not provided [RCV001762953] Chr2:237376910 [GRCh38]
Chr2:238285553 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6880-59C>T single nucleotide variant not provided [RCV001733300] Chr2:237348722 [GRCh38]
Chr2:238257365 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6210+1G>T single nucleotide variant not provided [RCV001795718] Chr2:237361120 [GRCh38]
Chr2:238269763 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) single nucleotide variant Bethlem myopathy 1A [RCV002544336]|Tip-toe gait [RCV001795814] Chr2:237357865 [GRCh38]
Chr2:238266508 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_004369.4(COL6A3):c.4618dup (p.Val1540fs) duplication not provided [RCV001780567] Chr2:237368844..237368845 [GRCh38]
Chr2:238277487..238277488 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.719_720del (p.Ser240fs) microsatellite not provided [RCV001780847] Chr2:237388174..237388175 [GRCh38]
Chr2:238296817..238296818 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) single nucleotide variant Bethlem myopathy 1A [RCV002541184]|not provided [RCV001780851] Chr2:237360159 [GRCh38]
Chr2:238268802 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_004369.4(COL6A3):c.1057A>G (p.Ile353Val) single nucleotide variant Inborn genetic diseases [RCV002539889]|not provided [RCV001757991] Chr2:237387837 [GRCh38]
Chr2:238296480 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2105T>C (p.Ile702Thr) single nucleotide variant not provided [RCV001758029] Chr2:237379028 [GRCh38]
Chr2:238287671 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2382C>A (p.Ser794Arg) single nucleotide variant not provided [RCV001815907] Chr2:237378751 [GRCh38]
Chr2:238287394 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3382A>G (p.Ile1128Val) single nucleotide variant Bethlem myopathy 1A [RCV001869644]|not provided [RCV001816296] Chr2:237374709 [GRCh38]
Chr2:238283352 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5524G>C (p.Gly1842Arg) single nucleotide variant Abnormality of the musculature [RCV001814348] Chr2:237366012 [GRCh38]
Chr2:238274655 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr) single nucleotide variant Bethlem myopathy 1A [RCV002040076] Chr2:237340766 [GRCh38]
Chr2:238249409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) single nucleotide variant Bethlem myopathy 1A [RCV001914351] Chr2:237394796 [GRCh38]
Chr2:238303439 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr) single nucleotide variant Bethlem myopathy 1A [RCV002043932]|Inborn genetic diseases [RCV004612113] Chr2:237340653 [GRCh38]
Chr2:238249296 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala) single nucleotide variant Bethlem myopathy 1A [RCV002044903] Chr2:237364367 [GRCh38]
Chr2:238273010 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala) single nucleotide variant Bethlem myopathy 1A [RCV002025235] Chr2:237368704 [GRCh38]
Chr2:238277347 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) single nucleotide variant Bethlem myopathy 1A [RCV001928930] Chr2:237377038 [GRCh38]
Chr2:238285681 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser) single nucleotide variant Bethlem myopathy 1A [RCV001950392] Chr2:237348627 [GRCh38]
Chr2:238257270 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile) single nucleotide variant Bethlem myopathy 1A [RCV002025843] Chr2:237387596 [GRCh38]
Chr2:238296239 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8231C>T (p.Thr2744Met) single nucleotide variant Bethlem myopathy 1A [RCV001891413]|not provided [RCV002260712] Chr2:237340685 [GRCh38]
Chr2:238249328 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn) single nucleotide variant Bethlem myopathy 1A [RCV001984938] Chr2:237368754 [GRCh38]
Chr2:238277397 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met) single nucleotide variant Bethlem myopathy 1A [RCV001864304]|not provided [RCV004774492] Chr2:237387849 [GRCh38]
Chr2:238296492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter) single nucleotide variant Bethlem myopathy 1A [RCV001930126] Chr2:237344370 [GRCh38]
Chr2:238253013 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn) single nucleotide variant Bethlem myopathy 1A [RCV001985779] Chr2:237379218 [GRCh38]
Chr2:238287861 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2426C>T (p.Pro809Leu) single nucleotide variant Bethlem myopathy 1A [RCV002024822]|Inborn genetic diseases [RCV004612112] Chr2:237378707 [GRCh38]
Chr2:238287350 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly) single nucleotide variant Bethlem myopathy 1A [RCV001864482] Chr2:237361818 [GRCh38]
Chr2:238270461 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238131823-238750046)x3 copy number gain not provided [RCV001827819] Chr2:238131823..238750046 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser) single nucleotide variant Bethlem myopathy 1A [RCV001929283] Chr2:237334862 [GRCh38]
Chr2:238243505 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe) single nucleotide variant Bethlem myopathy 1A [RCV001964941] Chr2:237340789 [GRCh38]
Chr2:238249432 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg) single nucleotide variant Bethlem myopathy 1A [RCV001863849] Chr2:237346556 [GRCh38]
Chr2:238255199 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala) single nucleotide variant Bethlem myopathy 1A [RCV002007997] Chr2:237364371 [GRCh38]
Chr2:238273014 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7766-14A>C single nucleotide variant Bethlem myopathy 1A [RCV001929177] Chr2:237341164 [GRCh38]
Chr2:238249807 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg) single nucleotide variant Bethlem myopathy 1A [RCV001863820] Chr2:237363327 [GRCh38]
Chr2:238271970 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1218T>C (p.Arg406=) single nucleotide variant Bethlem myopathy 1A [RCV001890392] Chr2:237387676 [GRCh38]
Chr2:238296319 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8966-6T>C single nucleotide variant Bethlem myopathy 1A [RCV001948369] Chr2:237334895 [GRCh38]
Chr2:238243538 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn) single nucleotide variant Bethlem myopathy 1A [RCV001914557] Chr2:237365953 [GRCh38]
Chr2:238274596 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser) single nucleotide variant Bethlem myopathy 1A [RCV001971355] Chr2:237394621 [GRCh38]
Chr2:238303264 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8825C>T (p.Ala2942Val) single nucleotide variant Bethlem myopathy 1A [RCV001896336]|not provided [RCV003146312] Chr2:237336275 [GRCh38]
Chr2:238244918 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1636G>A (p.Ala546Thr) single nucleotide variant Bethlem myopathy 1A [RCV001915161] Chr2:237381176 [GRCh38]
Chr2:238289819 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) single nucleotide variant Bethlem myopathy 1A [RCV001950700] Chr2:237369096 [GRCh38]
Chr2:238277739 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7611G>T (p.Gly2537=) single nucleotide variant Bethlem myopathy 1A [RCV002022346] Chr2:237344407 [GRCh38]
Chr2:238253050 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2059C>T (p.Pro687Ser) single nucleotide variant Bethlem myopathy 1A [RCV001966105] Chr2:237379074 [GRCh38]
Chr2:238287717 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser) indel Bethlem myopathy 1A [RCV001946512] Chr2:237336320..237336321 [GRCh38]
Chr2:238244963..238244964 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg) single nucleotide variant Bethlem myopathy 1A [RCV001927123] Chr2:237374787 [GRCh38]
Chr2:238283430 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) single nucleotide variant Bethlem myopathy 1A [RCV002003114] Chr2:237379005 [GRCh38]
Chr2:238287648 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238255685-238473810) copy number loss not specified [RCV002053297] Chr2:238255685..238473810 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe) single nucleotide variant Bethlem myopathy 1A [RCV001912604] Chr2:237368928 [GRCh38]
Chr2:238277571 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu) single nucleotide variant Bethlem myopathy 1A [RCV001927159] Chr2:237371837 [GRCh38]
Chr2:238280480 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5641C>T (p.Arg1881Cys) single nucleotide variant Bethlem myopathy 1A [RCV001927195] Chr2:237365895 [GRCh38]
Chr2:238274538 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) single nucleotide variant Bethlem myopathy 1A [RCV001966573]|not provided [RCV002225955] Chr2:237374619 [GRCh38]
Chr2:238283262 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) indel Bethlem myopathy 1A [RCV002003280] Chr2:237369045..237369046 [GRCh38]
Chr2:238277688..238277689 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2937C>A (p.Asp979Glu) single nucleotide variant Bethlem myopathy 1A [RCV002041878]|not provided [RCV003146257] Chr2:237376905 [GRCh38]
Chr2:238285548 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr) single nucleotide variant Bethlem myopathy 1A [RCV002023165] Chr2:237387996 [GRCh38]
Chr2:238296639 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly) single nucleotide variant Bethlem myopathy 1A [RCV002020818] Chr2:237387819 [GRCh38]
Chr2:238296462 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8158G>A (p.Glu2720Lys) single nucleotide variant Bethlem myopathy 1A [RCV002041342] Chr2:237340758 [GRCh38]
Chr2:238249401 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5456C>T (p.Ala1819Val) single nucleotide variant Bethlem myopathy 1A [RCV001891889] Chr2:237366731 [GRCh38]
Chr2:238275374 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr) single nucleotide variant Bethlem myopathy 1A [RCV001908380] Chr2:237369153 [GRCh38]
Chr2:238277796 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2395A>G (p.Met799Val) single nucleotide variant Bethlem myopathy 1A [RCV001966851] Chr2:237378738 [GRCh38]
Chr2:238287381 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser) single nucleotide variant Bethlem myopathy 1A [RCV001945724]|not provided [RCV003146362] Chr2:237366848 [GRCh38]
Chr2:238275491 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.514G>A (p.Val172Met) single nucleotide variant Bethlem myopathy 1A [RCV001946320]|not provided [RCV003146382] Chr2:237394782 [GRCh38]
Chr2:238303425 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg) single nucleotide variant Bethlem myopathy 1A [RCV002041015] Chr2:237374718 [GRCh38]
Chr2:238283361 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7037C>T (p.Ser2346Leu) single nucleotide variant Bethlem myopathy 1A [RCV001911360] Chr2:237346558 [GRCh38]
Chr2:238255201 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr) single nucleotide variant Bethlem myopathy 1A [RCV001965588] Chr2:237378849 [GRCh38]
Chr2:238287492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9122C>T (p.Thr3041Met) single nucleotide variant Bethlem myopathy 1A [RCV001892284] Chr2:237334733 [GRCh38]
Chr2:238243376 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) single nucleotide variant Bethlem myopathy 1A [RCV001967521]|Inborn genetic diseases [RCV002562036] Chr2:237371934 [GRCh38]
Chr2:238280577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3508G>A (p.Ala1170Thr) single nucleotide variant Bethlem myopathy 1A [RCV002039910] Chr2:237374583 [GRCh38]
Chr2:238283226 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=) single nucleotide variant Bethlem myopathy 1A [RCV001911288] Chr2:237365851 [GRCh38]
Chr2:238274494 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu) single nucleotide variant Bethlem myopathy 1A [RCV001986518]|not provided [RCV003146458] Chr2:237376849 [GRCh38]
Chr2:238285492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs) duplication Bethlem myopathy 1A [RCV001912583] Chr2:237334691..237334692 [GRCh38]
Chr2:238243334..238243335 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys) single nucleotide variant Bethlem myopathy 1A [RCV001913221] Chr2:237352545 [GRCh38]
Chr2:238261188 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val) single nucleotide variant Bethlem myopathy 1A [RCV001894980] Chr2:237381424 [GRCh38]
Chr2:238290067 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile) inversion Bethlem myopathy 1A [RCV001969877] Chr2:237369151..237369152 [GRCh38]
Chr2:238277794..238277795 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu) single nucleotide variant Bethlem myopathy 1A [RCV001892925] Chr2:237344783 [GRCh38]
Chr2:238253426 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7025G>A (p.Arg2342Gln) single nucleotide variant Bethlem myopathy 1A [RCV001911589] Chr2:237347811 [GRCh38]
Chr2:238256454 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4424T>C (p.Val1475Ala) single nucleotide variant Bethlem myopathy 1A [RCV001984406]|not provided [RCV002243503] Chr2:237369039 [GRCh38]
Chr2:238277682 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3751G>T (p.Val1251Phe) single nucleotide variant Bethlem myopathy 1A [RCV001894085] Chr2:237372266 [GRCh38]
Chr2:238280909 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter) single nucleotide variant Bethlem myopathy 1A [RCV002007195] Chr2:237379193 [GRCh38]
Chr2:238287836 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3542T>G (p.Ile1181Ser) single nucleotide variant Bethlem myopathy 1A [RCV002005840] Chr2:237374549 [GRCh38]
Chr2:238283192 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg) single nucleotide variant Bethlem myopathy 1A [RCV001984779] Chr2:237369020 [GRCh38]
Chr2:238277663 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) single nucleotide variant Bethlem myopathy 1A [RCV001969961] Chr2:237340530 [GRCh38]
Chr2:238249173 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) single nucleotide variant Bethlem myopathy 1A [RCV001894779] Chr2:237368958 [GRCh38]
Chr2:238277601 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp) single nucleotide variant Bethlem myopathy 1A [RCV002002248] Chr2:237366882 [GRCh38]
Chr2:238275525 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro) single nucleotide variant Bethlem myopathy 1A [RCV001946237] Chr2:237324779 [GRCh38]
Chr2:238233422 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6466G>C (p.Asp2156His) single nucleotide variant Bethlem myopathy 1A [RCV001927534] Chr2:237358526 [GRCh38]
Chr2:238267169 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val) single nucleotide variant Bethlem myopathy 1A [RCV002043739] Chr2:237350178 [GRCh38]
Chr2:238258821 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe) single nucleotide variant Bethlem myopathy 1A [RCV002006900] Chr2:237359384 [GRCh38]
Chr2:238268027 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp) single nucleotide variant Bethlem myopathy 1A [RCV001948967] Chr2:237379097 [GRCh38]
Chr2:238287740 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu) single nucleotide variant Bethlem myopathy 1A [RCV001871390] Chr2:237357370 [GRCh38]
Chr2:238266013 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu) single nucleotide variant Bethlem myopathy 1A [RCV001986370] Chr2:237360138 [GRCh38]
Chr2:238268781 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1560C>T (p.Gly520=) single nucleotide variant Bethlem myopathy 1A [RCV001872373] Chr2:237381252 [GRCh38]
Chr2:238289895 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.907G>T (p.Ala303Ser) single nucleotide variant Bethlem myopathy 1A [RCV001910578] Chr2:237387987 [GRCh38]
Chr2:238296630 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) single nucleotide variant Bethlem myopathy 1A [RCV002023927]|Inborn genetic diseases [RCV004046861] Chr2:237387929 [GRCh38]
Chr2:238296572 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) single nucleotide variant Bethlem myopathy 1A [RCV001872512] Chr2:237377110 [GRCh38]
Chr2:238285753 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) single nucleotide variant Bethlem myopathy 1A [RCV002043501] Chr2:237342127 [GRCh38]
Chr2:238250770 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.684C>T (p.Asp228=) single nucleotide variant Bethlem myopathy 1A [RCV002007126] Chr2:237394612 [GRCh38]
Chr2:238303255 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5162T>C (p.Val1721Ala) single nucleotide variant Bethlem myopathy 1A [RCV002001850] Chr2:237367025 [GRCh38]
Chr2:238275668 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) single nucleotide variant Bethlem myopathy 1A [RCV001911373] Chr2:237379002 [GRCh38]
Chr2:238287645 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5918-7T>G single nucleotide variant Bethlem myopathy 1A [RCV002104275] Chr2:237363405 [GRCh38]
Chr2:238272048 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe) single nucleotide variant Bethlem myopathy 1A [RCV002002962] Chr2:237387607 [GRCh38]
Chr2:238296250 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met) single nucleotide variant Bethlem myopathy 1A [RCV002002992] Chr2:237368943 [GRCh38]
Chr2:238277586 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) single nucleotide variant Bethlem myopathy 1A [RCV001825256]|Bethlem myopathy 1A [RCV002034687] Chr2:237365805 [GRCh38]
Chr2:238274448 [GRCh37]
Chr2:2q37.3		 uncertain significance|not provided
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn) single nucleotide variant Bethlem myopathy 1A [RCV001961774] Chr2:237366915 [GRCh38]
Chr2:238275558 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp) duplication Bethlem myopathy 1A [RCV002038842] Chr2:237358522..237358523 [GRCh38]
Chr2:238267165..238267166 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3372G>A (p.Ala1124=) single nucleotide variant Bethlem myopathy 1A [RCV002037075] Chr2:237374719 [GRCh38]
Chr2:238283362 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala) single nucleotide variant Bethlem myopathy 1A [RCV002001178] Chr2:237394953 [GRCh38]
Chr2:238303596 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly) single nucleotide variant Bethlem myopathy 1A [RCV002013074] Chr2:237378773 [GRCh38]
Chr2:238287416 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) single nucleotide variant Bethlem myopathy 1A [RCV001941283] Chr2:237376934 [GRCh38]
Chr2:238285577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg) single nucleotide variant Bethlem myopathy 1A [RCV002027068] Chr2:237367152 [GRCh38]
Chr2:238275795 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met) single nucleotide variant Bethlem myopathy 1A [RCV002028314] Chr2:237366972 [GRCh38]
Chr2:238275615 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr) single nucleotide variant Bethlem myopathy 1A [RCV001976793] Chr2:237348635 [GRCh38]
Chr2:238257278 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp) single nucleotide variant Bethlem myopathy 1A [RCV002038179] Chr2:237377092 [GRCh38]
Chr2:238285735 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu) single nucleotide variant Bethlem myopathy 1A [RCV001959912] Chr2:237381008 [GRCh38]
Chr2:238289651 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg) single nucleotide variant Bethlem myopathy 1A [RCV001944782] Chr2:237367142 [GRCh38]
Chr2:238275785 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+1G>C single nucleotide variant Bethlem myopathy 1A [RCV002039049] Chr2:237359361 [GRCh38]
Chr2:238268004 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4561G>A (p.Glu1521Lys) single nucleotide variant Bethlem myopathy 1A [RCV001906111] Chr2:237368902 [GRCh38]
Chr2:238277545 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) single nucleotide variant Bethlem myopathy 1A [RCV001886626] Chr2:237340947 [GRCh38]
Chr2:238249590 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe) single nucleotide variant Bethlem myopathy 1A [RCV001980412] Chr2:237363311 [GRCh38]
Chr2:238271954 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser) single nucleotide variant Bethlem myopathy 1A [RCV001887221] Chr2:237354931 [GRCh38]
Chr2:238263574 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) single nucleotide variant Bethlem myopathy 1A [RCV001888154] Chr2:237395127 [GRCh38]
Chr2:238303770 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7765+17A>G single nucleotide variant Bethlem myopathy 1A [RCV001886661] Chr2:237342048 [GRCh38]
Chr2:238250691 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238289548)_(238296837_?)del deletion Bethlem myopathy 1A [RCV001990139] Chr2:238289548..238296837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly) single nucleotide variant Bethlem myopathy 1A [RCV002027296] Chr2:237387707 [GRCh38]
Chr2:238296350 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg) single nucleotide variant Bethlem myopathy 1A [RCV002038233] Chr2:237368743 [GRCh38]
Chr2:238277386 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile) single nucleotide variant Bethlem myopathy 1A [RCV001990294] Chr2:237378736 [GRCh38]
Chr2:238287379 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu) single nucleotide variant Bethlem myopathy 1A [RCV001954874] Chr2:237394923 [GRCh38]
Chr2:238303566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+4T>G single nucleotide variant Bethlem myopathy 1A [RCV001932961] Chr2:237359358 [GRCh38]
Chr2:238268001 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) single nucleotide variant Bethlem myopathy 1A [RCV001962634]|not provided [RCV003332365] Chr2:237366708 [GRCh38]
Chr2:238275351 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6409-8T>C single nucleotide variant Bethlem myopathy 1A [RCV002001370] Chr2:237358591 [GRCh38]
Chr2:238267234 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) single nucleotide variant Bethlem myopathy 1A [RCV001962662]|COL6A3-related disorder [RCV004552124] Chr2:237341061 [GRCh38]
Chr2:238249704 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6283-326_6296del deletion Bethlem myopathy 1A [RCV002019069] Chr2:237359375..237359714 [GRCh38]
Chr2:238268018..238268357 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe) single nucleotide variant Bethlem myopathy 1A [RCV002035844] Chr2:237374682 [GRCh38]
Chr2:238283325 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter) single nucleotide variant Bethlem myopathy 1A [RCV001972120] Chr2:237388029 [GRCh38]
Chr2:238296672 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly) single nucleotide variant Bethlem myopathy 1A [RCV001931848] Chr2:237367044 [GRCh38]
Chr2:238275687 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile) single nucleotide variant Bethlem myopathy 1A [RCV001888306] Chr2:237374561 [GRCh38]
Chr2:238283204 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile) single nucleotide variant Bethlem myopathy 1A [RCV002027743] Chr2:237371942 [GRCh38]
Chr2:238280585 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu) single nucleotide variant Bethlem myopathy 1A [RCV001974732] Chr2:237333533 [GRCh38]
Chr2:238242176 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly) single nucleotide variant Bethlem myopathy 1A [RCV001940213] Chr2:237372301 [GRCh38]
Chr2:238280944 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr) single nucleotide variant Bethlem myopathy 1A [RCV002015419] Chr2:237367230 [GRCh38]
Chr2:238275873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser) single nucleotide variant Bethlem myopathy 1A [RCV001998149] Chr2:237378919 [GRCh38]
Chr2:238287562 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.92-6_92-5del deletion Bethlem myopathy 1A [RCV002000682] Chr2:237395209..237395210 [GRCh38]
Chr2:238303852..238303853 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr) single nucleotide variant Bethlem myopathy 1A [RCV002011304] Chr2:237344415 [GRCh38]
Chr2:238253058 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5500+8C>G single nucleotide variant Bethlem myopathy 1A [RCV001881539] Chr2:237366679 [GRCh38]
Chr2:238275322 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.183del (p.Leu62fs) deletion Bethlem myopathy 1A [RCV001887109] Chr2:237395113 [GRCh38]
Chr2:238303756 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) single nucleotide variant Bethlem myopathy 1A [RCV001883869]|not provided [RCV002293537] Chr2:237368908 [GRCh38]
Chr2:238277551 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val) single nucleotide variant Bethlem myopathy 1A [RCV001955430] Chr2:237395058 [GRCh38]
Chr2:238303701 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1415T>C (p.Ile472Thr) single nucleotide variant Bethlem myopathy 1A [RCV001881600] Chr2:237381397 [GRCh38]
Chr2:238290040 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3733G>A (p.Gly1245Arg) single nucleotide variant Bethlem myopathy 1A [RCV001998404]|Inborn genetic diseases [RCV002573476] Chr2:237372284 [GRCh38]
Chr2:238280927 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6063+14_6063+15insG insertion Bethlem myopathy 1A [RCV001925321] Chr2:237363238..237363239 [GRCh38]
Chr2:238271881..238271882 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg) single nucleotide variant Bethlem myopathy 1A [RCV001930924] Chr2:237365771 [GRCh38]
Chr2:238274414 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=) single nucleotide variant Bethlem myopathy 1A [RCV001936911] Chr2:237371847 [GRCh38]
Chr2:238280490 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly) single nucleotide variant Bethlem myopathy 1A [RCV001921152] Chr2:237379064 [GRCh38]
Chr2:238287707 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His) single nucleotide variant Bethlem myopathy 1A [RCV001921719] Chr2:237369054 [GRCh38]
Chr2:238277697 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp) single nucleotide variant Bethlem myopathy 1A [RCV001936344] Chr2:237361128 [GRCh38]
Chr2:238269771 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala) single nucleotide variant Bethlem myopathy 1A [RCV001994410] Chr2:237378681 [GRCh38]
Chr2:238287324 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1897+6G>A single nucleotide variant Bethlem myopathy 1A [RCV001876322] Chr2:237380909 [GRCh38]
Chr2:238289552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001933845] Chr2:237360135 [GRCh38]
Chr2:238268778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.534G>C (p.Glu178Asp) single nucleotide variant Bethlem myopathy 1A [RCV002046961] Chr2:237394762 [GRCh38]
Chr2:238303405 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6282+7C>T single nucleotide variant Bethlem myopathy 1A [RCV001955689] Chr2:237360081 [GRCh38]
Chr2:238268724 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His) single nucleotide variant Bethlem myopathy 1A [RCV002013163]|not provided [RCV003491004] Chr2:237367208 [GRCh38]
Chr2:238275851 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NM_004369.4(COL6A3):c.6506C>G (p.Pro2169Arg) single nucleotide variant Bethlem myopathy 1A [RCV001958302] Chr2:237357848 [GRCh38]
Chr2:238266491 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys) single nucleotide variant Bethlem myopathy 1A [RCV001878950] Chr2:237377113 [GRCh38]
Chr2:238285756 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser) single nucleotide variant Bethlem myopathy 1A [RCV001954766] Chr2:237368631 [GRCh38]
Chr2:238277274 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr) single nucleotide variant Bethlem myopathy 1A [RCV001995135] Chr2:237374637 [GRCh38]
Chr2:238283280 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.922G>A (p.Ala308Thr) single nucleotide variant Bethlem myopathy 1A [RCV002028464] Chr2:237387972 [GRCh38]
Chr2:238296615 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7984G>A (p.Ala2662Thr) single nucleotide variant Bethlem myopathy 1A [RCV001991327] Chr2:237340932 [GRCh38]
Chr2:238249575 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.7174+1del deletion Bethlem myopathy 1A [RCV001936515] Chr2:237344940 [GRCh38]
Chr2:238253583 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn) single nucleotide variant Bethlem myopathy 1A [RCV002049757] Chr2:237376832 [GRCh38]
Chr2:238285475 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp) single nucleotide variant Bethlem myopathy 1A [RCV001973231] Chr2:237381457 [GRCh38]
Chr2:238290100 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) single nucleotide variant Bethlem myopathy 1A [RCV001978808] Chr2:237368796 [GRCh38]
Chr2:238277439 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9316C>T (p.Leu3106Phe) single nucleotide variant Bethlem myopathy 1A [RCV001897186] Chr2:237333462 [GRCh38]
Chr2:238242105 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) single nucleotide variant Bethlem myopathy 1A [RCV001922723] Chr2:237340716 [GRCh38]
Chr2:238249359 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His) single nucleotide variant Bethlem myopathy 1A [RCV002048767] Chr2:237368698 [GRCh38]
Chr2:238277341 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys) single nucleotide variant Bethlem myopathy 1A [RCV001922121] Chr2:237377263 [GRCh38]
Chr2:238285906 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2695A>G (p.Ile899Val) single nucleotide variant Bethlem myopathy 1A [RCV001952497] Chr2:237377147 [GRCh38]
Chr2:238285790 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly) single nucleotide variant Bethlem myopathy 1A [RCV002009787] Chr2:237395180 [GRCh38]
Chr2:238303823 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4880C>A (p.Thr1627Asn) single nucleotide variant Bethlem myopathy 1A [RCV001881407]|not provided [RCV003136252] Chr2:237368583 [GRCh38]
Chr2:238277226 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7323G>A (p.Arg2441=) single nucleotide variant Bethlem myopathy 1A [RCV001956816] Chr2:237344695 [GRCh38]
Chr2:238253338 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys) single nucleotide variant Bethlem myopathy 1A [RCV001903523] Chr2:237368640 [GRCh38]
Chr2:238277283 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4361A>G (p.His1454Arg) single nucleotide variant Bethlem myopathy 1A [RCV001934856] Chr2:237369102 [GRCh38]
Chr2:238277745 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) single nucleotide variant Bethlem myopathy 1A [RCV001932122] Chr2:237371947 [GRCh38]
Chr2:238280590 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4286-2A>G single nucleotide variant Bethlem myopathy 1A [RCV002028012] Chr2:237369179 [GRCh38]
Chr2:238277822 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) single nucleotide variant Bethlem myopathy 1A [RCV001989548] Chr2:237340565 [GRCh38]
Chr2:238249208 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp) single nucleotide variant Bethlem myopathy 1A [RCV001992080] Chr2:237344659 [GRCh38]
Chr2:238253302 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys) single nucleotide variant Bethlem myopathy 1A [RCV001883222] Chr2:237368943 [GRCh38]
Chr2:238277586 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys) single nucleotide variant Bethlem myopathy 1A [RCV001981132] Chr2:237348381 [GRCh38]
Chr2:238257024 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys) single nucleotide variant Bethlem myopathy 1A [RCV002014210] Chr2:237361143 [GRCh38]
Chr2:238269786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu) single nucleotide variant Bethlem myopathy 1A [RCV001937862] Chr2:237394647 [GRCh38]
Chr2:238303290 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2367del (p.Ile789fs) deletion Bethlem myopathy 1A [RCV001994698] Chr2:237378766 [GRCh38]
Chr2:238287409 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met) single nucleotide variant Bethlem myopathy 1A [RCV001989885] Chr2:237344679 [GRCh38]
Chr2:238253322 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=) single nucleotide variant Bethlem myopathy 1A [RCV001898101] Chr2:237387859 [GRCh38]
Chr2:238296502 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3042A>G (p.Lys1014=) single nucleotide variant Bethlem myopathy 1A [RCV001975567] Chr2:237376800 [GRCh38]
Chr2:238285443 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.482C>T (p.Pro161Leu) single nucleotide variant Bethlem myopathy 1A [RCV002031031] Chr2:237394814 [GRCh38]
Chr2:238303457 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3672G>A (p.Pro1224=) single nucleotide variant Bethlem myopathy 1A [RCV001925192] Chr2:237374419 [GRCh38]
Chr2:238283062 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val) single nucleotide variant Bethlem myopathy 1A [RCV001998314] Chr2:237340761 [GRCh38]
Chr2:238249404 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu) single nucleotide variant Bethlem myopathy 1A [RCV002048389] Chr2:237344764 [GRCh38]
Chr2:238253407 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu) single nucleotide variant Bethlem myopathy 1A [RCV001902107] Chr2:237369154 [GRCh38]
Chr2:238277797 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu) single nucleotide variant Bethlem myopathy 1A [RCV002031161]|not provided [RCV003232521] Chr2:237368668 [GRCh38]
Chr2:238277311 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=) single nucleotide variant Bethlem myopathy 1A [RCV002049829] Chr2:237358521 [GRCh38]
Chr2:238267164 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6309+3A>T single nucleotide variant Bethlem myopathy 1A [RCV002025974] Chr2:237359359 [GRCh38]
Chr2:238268002 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001921798] Chr2:237379233 [GRCh38]
Chr2:238287876 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile) single nucleotide variant Bethlem myopathy 1A [RCV002018459] Chr2:237388161 [GRCh38]
Chr2:238296804 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.760G>A (p.Gly254Arg) single nucleotide variant Bethlem myopathy 1A [RCV001906609] Chr2:237388134 [GRCh38]
Chr2:238296777 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu) single nucleotide variant Bethlem myopathy 1A [RCV001990341] Chr2:237365870 [GRCh38]
Chr2:238274513 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile) indel Bethlem myopathy 1A [RCV001995067] Chr2:237387791..237387792 [GRCh38]
Chr2:238296434..238296435 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys) single nucleotide variant Bethlem myopathy 1A [RCV001936448] Chr2:237374981 [GRCh38]
Chr2:238283624 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3989G>C (p.Ser1330Thr) single nucleotide variant Bethlem myopathy 1A [RCV001980885] Chr2:237372028 [GRCh38]
Chr2:238280671 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp) single nucleotide variant Bethlem myopathy 1A [RCV001974810] Chr2:237374699 [GRCh38]
Chr2:238283342 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.920G>A (p.Gly307Asp) single nucleotide variant Bethlem myopathy 1A [RCV001897311]|Inborn genetic diseases [RCV004041244] Chr2:237387974 [GRCh38]
Chr2:238296617 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys) single nucleotide variant Bethlem myopathy 1A [RCV001917370] Chr2:237344556 [GRCh38]
Chr2:238253199 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe) single nucleotide variant Bethlem myopathy 1A [RCV002018612] Chr2:237377021 [GRCh38]
Chr2:238285664 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) single nucleotide variant Bethlem myopathy 1A [RCV001865123] Chr2:237368601 [GRCh38]
Chr2:238277244 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter) single nucleotide variant Bethlem myopathy 1A [RCV001951341] Chr2:237374691 [GRCh38]
Chr2:238283334 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser) single nucleotide variant Bethlem myopathy 1A [RCV002027854]|not provided [RCV003146496] Chr2:237374976 [GRCh38]
Chr2:238283619 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) single nucleotide variant Bethlem myopathy 1A [RCV001932113] Chr2:237387875 [GRCh38]
Chr2:238296518 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5501-9C>A single nucleotide variant Bethlem myopathy 1A [RCV001933410] Chr2:237366044 [GRCh38]
Chr2:238274687 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg) single nucleotide variant Bethlem myopathy 1A [RCV001960175] Chr2:237396741 [GRCh38]
Chr2:238305384 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val) single nucleotide variant Bethlem myopathy 1A [RCV002015092] Chr2:237381340 [GRCh38]
Chr2:238289983 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter) single nucleotide variant Bethlem myopathy 1A [RCV001994492] Chr2:237325669 [GRCh38]
Chr2:238234312 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.976C>G (p.Leu326Val) single nucleotide variant Bethlem myopathy 1A [RCV001997508] Chr2:237387918 [GRCh38]
Chr2:238296561 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser) single nucleotide variant Bethlem myopathy 1A [RCV002046577] Chr2:237346514 [GRCh38]
Chr2:238255157 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile) single nucleotide variant Bethlem myopathy 1A [RCV001930895]|Inborn genetic diseases [RCV003264263] Chr2:237367005 [GRCh38]
Chr2:238275648 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001997042] Chr2:237366726 [GRCh38]
Chr2:238275369 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys) single nucleotide variant Bethlem myopathy 1A [RCV001951659] Chr2:237368644 [GRCh38]
Chr2:238277287 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu) single nucleotide variant Bethlem myopathy 1A [RCV001951734] Chr2:237379073 [GRCh38]
Chr2:238287716 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser) single nucleotide variant Bethlem myopathy 1A [RCV001939038] Chr2:237365939 [GRCh38]
Chr2:238274582 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg) single nucleotide variant Bethlem myopathy 1A [RCV002017738]|not provided [RCV003146483] Chr2:237369052 [GRCh38]
Chr2:238277695 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala) single nucleotide variant Bethlem myopathy 1A [RCV001995539] Chr2:237374903 [GRCh38]
Chr2:238283546 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) single nucleotide variant Bethlem myopathy 1A [RCV001940274]|COL6A3-related disorder [RCV004552110]|not provided [RCV003490943] Chr2:237377209 [GRCh38]
Chr2:238285852 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys) single nucleotide variant Bethlem myopathy 1A [RCV001982017] Chr2:237395142 [GRCh38]
Chr2:238303785 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu) single nucleotide variant Bethlem myopathy 1A [RCV001907179] Chr2:237369155 [GRCh38]
Chr2:238277798 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn) single nucleotide variant Bethlem myopathy 1A [RCV002017884] Chr2:237344654 [GRCh38]
Chr2:238253297 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu) single nucleotide variant Bethlem myopathy 1A [RCV001980748]|not provided [RCV003146456] Chr2:237341149 [GRCh38]
Chr2:238249792 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser) single nucleotide variant Bethlem myopathy 1A [RCV001940290] Chr2:237342154 [GRCh38]
Chr2:238250797 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) single nucleotide variant Bethlem myopathy 1A [RCV001980976] Chr2:237365712 [GRCh38]
Chr2:238274355 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp) single nucleotide variant Bethlem myopathy 1A [RCV001906288] Chr2:237361146 [GRCh38]
Chr2:238269789 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9032G>T (p.Arg3011Met) single nucleotide variant Bethlem myopathy 1A [RCV002018573] Chr2:237334823 [GRCh38]
Chr2:238243466 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.4031C>T (p.Ser1344Leu) single nucleotide variant Bethlem myopathy 1A [RCV001924486] Chr2:237371986 [GRCh38]
Chr2:238280629 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) single nucleotide variant Bethlem myopathy 1A [RCV001998191]|Inborn genetic diseases [RCV002573453]|not provided [RCV003434377] Chr2:237381253 [GRCh38]
Chr2:238289896 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile) single nucleotide variant Bethlem myopathy 1A [RCV001925242] Chr2:237344552 [GRCh38]
Chr2:238253195 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val) single nucleotide variant Bethlem myopathy 1A [RCV002035881] Chr2:237376831 [GRCh38]
Chr2:238285474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.8317G>A (p.Gly2773Ser) single nucleotide variant Bethlem myopathy 1A [RCV001934892]|Inborn genetic diseases [RCV003375384]|See cases [RCV002252713] Chr2:237340599 [GRCh38]
Chr2:238249242 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1598G>A (p.Arg533His) single nucleotide variant Bethlem myopathy 1A [RCV001952792] Chr2:237381214 [GRCh38]
Chr2:238289857 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu) single nucleotide variant Bethlem myopathy 1A [RCV002030730] Chr2:237340794 [GRCh38]
Chr2:238249437 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn) single nucleotide variant Bethlem myopathy 1A [RCV001937328] Chr2:237387708 [GRCh38]
Chr2:238296351 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7255G>A (p.Gly2419Ser) single nucleotide variant Bethlem myopathy 1A [RCV002010628]|not provided [RCV003138027] Chr2:237344763 [GRCh38]
Chr2:238253406 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg) single nucleotide variant Bethlem myopathy 1A [RCV001899139] Chr2:237358556 [GRCh38]
Chr2:238267199 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6962C>A (p.Pro2321Gln) single nucleotide variant Bethlem myopathy 1A [RCV001957938] Chr2:237348353 [GRCh38]
Chr2:238256996 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp) single nucleotide variant Bethlem myopathy 1A [RCV002013526] Chr2:237359245 [GRCh38]
Chr2:238267888 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2400T>A (p.Asp800Glu) single nucleotide variant Bethlem myopathy 1A [RCV001875335]|Inborn genetic diseases [RCV004611951] Chr2:237378733 [GRCh38]
Chr2:238287376 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3808C>T (p.Arg1270Trp) single nucleotide variant Bethlem myopathy 1A [RCV001898236]|not provided [RCV003136267] Chr2:237372209 [GRCh38]
Chr2:238280852 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly) single nucleotide variant Bethlem myopathy 1A [RCV002029072] Chr2:237336299 [GRCh38]
Chr2:238244942 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8660C>T (p.Thr2887Ile) single nucleotide variant Bethlem myopathy 1A [RCV001917961]|Inborn genetic diseases [RCV002555615]|not provided [RCV004693910] Chr2:237336440 [GRCh38]
Chr2:238245083 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro) single nucleotide variant Bethlem myopathy 1A [RCV001976773] Chr2:237334779 [GRCh38]
Chr2:238243422 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.399del (p.Ala134fs) deletion Bethlem myopathy 1A [RCV001951116] Chr2:237394897 [GRCh38]
Chr2:238303540 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser) single nucleotide variant Bethlem myopathy 1A [RCV001879337] Chr2:237340494 [GRCh38]
Chr2:238249137 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys) single nucleotide variant Bethlem myopathy 1A [RCV001956740] Chr2:237394948 [GRCh38]
Chr2:238303591 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7765+15T>C single nucleotide variant Bethlem myopathy 1A [RCV001994811] Chr2:237342050 [GRCh38]
Chr2:238250693 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8866G>A (p.Ala2956Thr) single nucleotide variant Bethlem myopathy 1A [RCV001882913]|not provided [RCV003146292] Chr2:237336234 [GRCh38]
Chr2:238244877 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser) single nucleotide variant Bethlem myopathy 1A [RCV001901165] Chr2:237376789 [GRCh38]
Chr2:238285432 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) single nucleotide variant Bethlem myopathy 1A [RCV001932762] Chr2:237353369 [GRCh38]
Chr2:238262012 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys) single nucleotide variant Bethlem myopathy 1A [RCV001978243] Chr2:237366784 [GRCh38]
Chr2:238275427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val) single nucleotide variant Bethlem myopathy 1A [RCV001898565] Chr2:237340652 [GRCh38]
Chr2:238249295 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4068G>A (p.Ala1356=) single nucleotide variant Bethlem myopathy 1A [RCV002148369] Chr2:237371949 [GRCh38]
Chr2:238280592 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6291G>T (p.Arg2097=) single nucleotide variant Bethlem myopathy 1A [RCV002206871]|not provided [RCV003438930] Chr2:237359380 [GRCh38]
Chr2:238268023 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7713G>A (p.Gly2571=) single nucleotide variant Bethlem myopathy 1A [RCV002185648] Chr2:237342117 [GRCh38]
Chr2:238250760 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5646G>A (p.Ser1882=) single nucleotide variant Bethlem myopathy 1A [RCV002104652] Chr2:237365890 [GRCh38]
Chr2:238274533 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7926A>T (p.Ile2642=) single nucleotide variant Bethlem myopathy 1A [RCV002086802] Chr2:237340990 [GRCh38]
Chr2:238249633 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8966-19G>T single nucleotide variant Bethlem myopathy 1A [RCV002074671] Chr2:237334908 [GRCh38]
Chr2:238243551 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7093-9G>T single nucleotide variant Bethlem myopathy 1A [RCV002086642] Chr2:237345222 [GRCh38]
Chr2:238253865 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-4G>A single nucleotide variant Bethlem myopathy 1A [RCV002188473] Chr2:237361835 [GRCh38]
Chr2:238270478 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.837C>T (p.Ile279=) single nucleotide variant Bethlem myopathy 1A [RCV002167509] Chr2:237388057 [GRCh38]
Chr2:238296700 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7101G>A (p.Lys2367=) single nucleotide variant Bethlem myopathy 1A [RCV002075737] Chr2:237345205 [GRCh38]
Chr2:238253848 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8997G>A (p.Glu2999=) single nucleotide variant Bethlem myopathy 1A [RCV002192013] Chr2:237334858 [GRCh38]
Chr2:238243501 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6354+16C>T single nucleotide variant Bethlem myopathy 1A [RCV002125530] Chr2:237359190 [GRCh38]
Chr2:238267833 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8465-7T>A single nucleotide variant Bethlem myopathy 1A [RCV002092331] Chr2:237339124 [GRCh38]
Chr2:238247767 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3680-18C>G single nucleotide variant Bethlem myopathy 1A [RCV002125479] Chr2:237372355 [GRCh38]
Chr2:238280998 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+17_3679+18del deletion Bethlem myopathy 1A [RCV002110103] Chr2:237374394..237374395 [GRCh38]
Chr2:238283037..238283038 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2352A>G (p.Ala784=) single nucleotide variant Bethlem myopathy 1A [RCV002192121] Chr2:237378781 [GRCh38]
Chr2:238287424 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6354+18A>C single nucleotide variant Bethlem myopathy 1A [RCV002168141] Chr2:237359188 [GRCh38]
Chr2:238267831 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3126C>T (p.Ser1042=) single nucleotide variant Bethlem myopathy 1A [RCV002105095] Chr2:237374965 [GRCh38]
Chr2:238283608 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4059C>T (p.Asp1353=) single nucleotide variant Bethlem myopathy 1A [RCV002187027] Chr2:237371958 [GRCh38]
Chr2:238280601 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4152C>T (p.Ser1384=) single nucleotide variant Bethlem myopathy 1A [RCV002072594] Chr2:237371865 [GRCh38]
Chr2:238280508 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9489T>C (p.Ala3163=) single nucleotide variant Bethlem myopathy 1A [RCV002126297] Chr2:237325564 [GRCh38]
Chr2:238234207 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5918-17T>C single nucleotide variant Bethlem myopathy 1A [RCV002165820] Chr2:237363415 [GRCh38]
Chr2:238272058 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6471+20C>T single nucleotide variant Bethlem myopathy 1A [RCV002209257] Chr2:237358501 [GRCh38]
Chr2:238267144 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8464+11C>T single nucleotide variant Bethlem myopathy 1A [RCV002109364] Chr2:237340441 [GRCh38]
Chr2:238249084 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3600C>T (p.Val1200=) single nucleotide variant Bethlem myopathy 1A [RCV002167690] Chr2:237374491 [GRCh38]
Chr2:238283134 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7746C>T (p.Leu2582=) single nucleotide variant Bethlem myopathy 1A [RCV002205526] Chr2:237342084 [GRCh38]
Chr2:238250727 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7051A>C (p.Ile2351Leu) single nucleotide variant Bethlem myopathy 1A [RCV002075114] Chr2:237346544 [GRCh38]
Chr2:238255187 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+17T>G single nucleotide variant Bethlem myopathy 1A [RCV002097723] Chr2:237374395 [GRCh38]
Chr2:238283038 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3741G>A (p.Glu1247=) single nucleotide variant Bethlem myopathy 1A [RCV002090861] Chr2:237372276 [GRCh38]
Chr2:238280919 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.91+16G>A single nucleotide variant Bethlem myopathy 1A [RCV002132622] Chr2:237396711 [GRCh38]
Chr2:238305354 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.819A>G (p.Pro273=) single nucleotide variant Bethlem myopathy 1A [RCV002080150] Chr2:237388075 [GRCh38]
Chr2:238296718 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3885G>A (p.Val1295=) single nucleotide variant Bethlem myopathy 1A [RCV002216172] Chr2:237372132 [GRCh38]
Chr2:238280775 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.498G>A (p.Lys166=) single nucleotide variant Bethlem myopathy 1A [RCV002112895] Chr2:237394798 [GRCh38]
Chr2:238303441 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.91+15C>A single nucleotide variant Bethlem myopathy 1A [RCV002170721] Chr2:237396712 [GRCh38]
Chr2:238305355 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4488G>A (p.Gln1496=) single nucleotide variant Bethlem myopathy 1A [RCV002086804] Chr2:237368975 [GRCh38]
Chr2:238277618 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6408+16C>T single nucleotide variant Bethlem myopathy 1A [RCV002211680] Chr2:237359019 [GRCh38]
Chr2:238267662 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6472-13A>G single nucleotide variant Bethlem myopathy 1A [RCV002093888] Chr2:237357895 [GRCh38]
Chr2:238266538 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6978T>C (p.Gly2326=) single nucleotide variant Bethlem myopathy 1A [RCV002084969] Chr2:237347858 [GRCh38]
Chr2:238256501 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-12C>G single nucleotide variant Bethlem myopathy 1A [RCV002113456] Chr2:237324826 [GRCh38]
Chr2:238233469 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.33C>T (p.Ala11=) single nucleotide variant Bethlem myopathy 1A [RCV002094282] Chr2:237396785 [GRCh38]
Chr2:238305428 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2796T>C (p.Ala932=) single nucleotide variant Bethlem myopathy 1A [RCV002078772] Chr2:237377046 [GRCh38]
Chr2:238285689 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8895C>T (p.Thr2965=) single nucleotide variant Bethlem myopathy 1A [RCV002196990] Chr2:237336205 [GRCh38]
Chr2:238244848 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1689T>C (p.Asp563=) single nucleotide variant Bethlem myopathy 1A [RCV002192277] Chr2:237381123 [GRCh38]
Chr2:238289766 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9489T>A (p.Ala3163=) single nucleotide variant Bethlem myopathy 1A [RCV002192284] Chr2:237325564 [GRCh38]
Chr2:238234207 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3071-21_3071-18dup duplication Bethlem myopathy 1A [RCV002094418] Chr2:237375037..237375038 [GRCh38]
Chr2:238283680..238283681 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.345C>A (p.Thr115=) single nucleotide variant Bethlem myopathy 1A [RCV002115193] Chr2:237394951 [GRCh38]
Chr2:238303594 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6931-19A>T single nucleotide variant Bethlem myopathy 1A [RCV002113256] Chr2:237348403 [GRCh38]
Chr2:238257046 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3105T>C (p.Asp1035=) single nucleotide variant Bethlem myopathy 1A [RCV002153624]|not provided [RCV003138094] Chr2:237374986 [GRCh38]
Chr2:238283629 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.9210C>T (p.Tyr3070=) single nucleotide variant Bethlem myopathy 1A [RCV002125672] Chr2:237334645 [GRCh38]
Chr2:238243288 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9435T>C (p.Cys3145=) single nucleotide variant Bethlem myopathy 1A [RCV002166647] Chr2:237325618 [GRCh38]
Chr2:238234261 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1312+12C>A single nucleotide variant Bethlem myopathy 1A [RCV002215921] Chr2:237387570 [GRCh38]
Chr2:238296213 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6967-10T>C single nucleotide variant Bethlem myopathy 1A [RCV002171223] Chr2:237347879 [GRCh38]
Chr2:238256522 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5349G>A (p.Ser1783=) single nucleotide variant Bethlem myopathy 1A [RCV002093566] Chr2:237366838 [GRCh38]
Chr2:238275481 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3945C>T (p.Ala1315=) single nucleotide variant Bethlem myopathy 1A [RCV002194689] Chr2:237372072 [GRCh38]
Chr2:238280715 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6592-8T>C single nucleotide variant Bethlem myopathy 1A [RCV002206290] Chr2:237354942 [GRCh38]
Chr2:238263585 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5433A>G (p.Gln1811=) single nucleotide variant Bethlem myopathy 1A [RCV002076524] Chr2:237366754 [GRCh38]
Chr2:238275397 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6063+14A>T single nucleotide variant Bethlem myopathy 1A [RCV002196535] Chr2:237363239 [GRCh38]
Chr2:238271882 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2316G>A (p.Leu772=) single nucleotide variant Bethlem myopathy 1A [RCV002213949] Chr2:237378817 [GRCh38]
Chr2:238287460 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5501-17G>A single nucleotide variant Bethlem myopathy 1A [RCV002127983] Chr2:237366052 [GRCh38]
Chr2:238274695 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7491C>T (p.Asn2497=) single nucleotide variant Bethlem myopathy 1A [RCV002132665] Chr2:237344527 [GRCh38]
Chr2:238253170 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2497+19C>T single nucleotide variant Bethlem myopathy 1A [RCV002132231] Chr2:237378617 [GRCh38]
Chr2:238287260 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.9504A>G (p.Lys3168=) single nucleotide variant Bethlem myopathy 1A [RCV002212758] Chr2:237324804 [GRCh38]
Chr2:238233447 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2457T>C (p.Tyr819=) single nucleotide variant Bethlem myopathy 1A [RCV002193234] Chr2:237378676 [GRCh38]
Chr2:238287319 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8780_8781delinsCT (p.Met2927Thr) indel Bethlem myopathy 1A [RCV002194823] Chr2:237336319..237336320 [GRCh38]
Chr2:238244962..238244963 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4836G>A (p.Ser1612=) single nucleotide variant Bethlem myopathy 1A [RCV002192216] Chr2:237368627 [GRCh38]
Chr2:238277270 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7668+16G>A single nucleotide variant Bethlem myopathy 1A [RCV002092184] Chr2:237344334 [GRCh38]
Chr2:238252977 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6966+19G>T single nucleotide variant Bethlem myopathy 1A [RCV002108902] Chr2:237348330 [GRCh38]
Chr2:238256973 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.483C>T (p.Pro161=) single nucleotide variant Bethlem myopathy 1A [RCV002212954] Chr2:237394813 [GRCh38]
Chr2:238303456 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8634T>A (p.Thr2878=) single nucleotide variant Bethlem myopathy 1A [RCV002095841] Chr2:237336466 [GRCh38]
Chr2:238245109 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8895C>A (p.Thr2965=) single nucleotide variant Bethlem myopathy 1A [RCV002089188] Chr2:237336205 [GRCh38]
Chr2:238244848 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6309+8A>G single nucleotide variant Bethlem myopathy 1A [RCV002170069] Chr2:237359354 [GRCh38]
Chr2:238267997 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9096G>T (p.Leu3032=) single nucleotide variant Bethlem myopathy 1A [RCV002094520] Chr2:237334759 [GRCh38]
Chr2:238243402 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3135T>G (p.Pro1045=) single nucleotide variant Bethlem myopathy 1A [RCV002155678] Chr2:237374956 [GRCh38]
Chr2:238283599 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6210+15T>C single nucleotide variant Bethlem myopathy 1A [RCV002197976] Chr2:237361106 [GRCh38]
Chr2:238269749 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3627C>A (p.Thr1209=) single nucleotide variant Bethlem myopathy 1A [RCV002218542] Chr2:237374464 [GRCh38]
Chr2:238283107 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3273C>A (p.Val1091=) single nucleotide variant Bethlem myopathy 1A [RCV002181363]|not provided [RCV003434448] Chr2:237374818 [GRCh38]
Chr2:238283461 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3981C>A (p.Pro1327=) single nucleotide variant Bethlem myopathy 1A [RCV002139497] Chr2:237372036 [GRCh38]
Chr2:238280679 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6585G>A (p.Gly2195=) single nucleotide variant Bethlem myopathy 1A [RCV002100688] Chr2:237357344 [GRCh38]
Chr2:238265987 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6931-10dup duplication Bethlem myopathy 1A [RCV002082359] Chr2:237348393..237348394 [GRCh38]
Chr2:238257036..238257037 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3983T>C (p.Leu1328Pro) single nucleotide variant not provided [RCV002222816] Chr2:237372034 [GRCh38]
Chr2:238280677 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.479T>C (p.Leu160Pro) single nucleotide variant not provided [RCV002222822] Chr2:237394817 [GRCh38]
Chr2:238303460 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6879+16G>A single nucleotide variant Bethlem myopathy 1A [RCV002122518] Chr2:237350131 [GRCh38]
Chr2:238258774 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1897+11G>A single nucleotide variant Bethlem myopathy 1A [RCV002101357] Chr2:237380904 [GRCh38]
Chr2:238289547 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6156+16C>T single nucleotide variant Bethlem myopathy 1A [RCV002142695] Chr2:237361723 [GRCh38]
Chr2:238270366 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6754-12C>T single nucleotide variant Bethlem myopathy 1A [RCV002184422] Chr2:237351204 [GRCh38]
Chr2:238259847 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4285+12G>T single nucleotide variant Bethlem myopathy 1A [RCV002137313] Chr2:237371720 [GRCh38]
Chr2:238280363 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4776G>T (p.Leu1592=) single nucleotide variant Bethlem myopathy 1A [RCV002135437] Chr2:237368687 [GRCh38]
Chr2:238277330 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.630A>G (p.Val210=) single nucleotide variant Bethlem myopathy 1A [RCV002123557] Chr2:237394666 [GRCh38]
Chr2:238303309 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+15G>A single nucleotide variant Bethlem myopathy 1A [RCV002143132] Chr2:237366672 [GRCh38]
Chr2:238275315 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8465-20T>C single nucleotide variant Bethlem myopathy 1A [RCV002217046] Chr2:237339137 [GRCh38]
Chr2:238247780 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1152C>A (p.Ala384=) single nucleotide variant Bethlem myopathy 1A [RCV002136013] Chr2:237387742 [GRCh38]
Chr2:238296385 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7766-13T>C single nucleotide variant Bethlem myopathy 1A [RCV002102515] Chr2:237341163 [GRCh38]
Chr2:238249806 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.92-5dup duplication Bethlem myopathy 1A [RCV002181672] Chr2:237395208..237395209 [GRCh38]
Chr2:238303851..238303852 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.5769C>T (p.Tyr1923=) single nucleotide variant Bethlem myopathy 1A [RCV002118329]|COL6A3-related disorder [RCV004738541] Chr2:237365767 [GRCh38]
Chr2:238274410 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7668+18G>A single nucleotide variant Bethlem myopathy 1A [RCV002141999] Chr2:237344332 [GRCh38]
Chr2:238252975 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.486A>G (p.Ser162=) single nucleotide variant Bethlem myopathy 1A [RCV002164159] Chr2:237394810 [GRCh38]
Chr2:238303453 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2830C>T (p.Leu944=) single nucleotide variant Bethlem myopathy 1A [RCV002144010] Chr2:237377012 [GRCh38]
Chr2:238285655 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.966C>T (p.Ile322=) single nucleotide variant Bethlem myopathy 1A [RCV002082744]|not provided [RCV004711740] Chr2:237387928 [GRCh38]
Chr2:238296571 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3620A>G (p.Gln1207Arg) single nucleotide variant See cases [RCV002253045] Chr2:237374471 [GRCh38]
Chr2:238283114 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4263C>T (p.Ala1421=) single nucleotide variant Bethlem myopathy 1A [RCV002142515] Chr2:237371754 [GRCh38]
Chr2:238280397 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7093-5dup duplication Bethlem myopathy 1A [RCV002137079] Chr2:237345217..237345218 [GRCh38]
Chr2:238253860..238253861 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.92-12C>G single nucleotide variant Bethlem myopathy 1A [RCV002083108] Chr2:237395216 [GRCh38]
Chr2:238303859 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2497+8T>C single nucleotide variant Bethlem myopathy 1A [RCV002204757] Chr2:237378628 [GRCh38]
Chr2:238287271 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6691-16T>G single nucleotide variant Bethlem myopathy 1A [RCV002204802] Chr2:237352600 [GRCh38]
Chr2:238261243 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1107G>A (p.Leu369=) single nucleotide variant Bethlem myopathy 1A [RCV002159345] Chr2:237387787 [GRCh38]
Chr2:238296430 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6691-8T>G single nucleotide variant Bethlem myopathy 1A [RCV002180902] Chr2:237352592 [GRCh38]
Chr2:238261235 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4900+9C>A single nucleotide variant Bethlem myopathy 1A [RCV002100308]|COL6A3-related disorder [RCV004553709] Chr2:237368554 [GRCh38]
Chr2:238277197 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1512A>G (p.Thr504=) single nucleotide variant Bethlem myopathy 1A [RCV002203595]|not provided [RCV003438980] Chr2:237381300 [GRCh38]
Chr2:238289943 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.420C>T (p.Asp140=) single nucleotide variant Bethlem myopathy 1A [RCV002118245] Chr2:237394876 [GRCh38]
Chr2:238303519 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.141T>C (p.Ser47=) single nucleotide variant Bethlem myopathy 1A [RCV002141112] Chr2:237395155 [GRCh38]
Chr2:238303798 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8310G>C (p.Val2770=) single nucleotide variant Bethlem myopathy 1A [RCV002161789] Chr2:237340606 [GRCh38]
Chr2:238249249 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1506T>C (p.His502=) single nucleotide variant Bethlem myopathy 1A [RCV002181284] Chr2:237381306 [GRCh38]
Chr2:238289949 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6592-19_6592-10del deletion Bethlem myopathy 1A [RCV002217532] Chr2:237354944..237354953 [GRCh38]
Chr2:238263587..238263596 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4548T>C (p.Thr1516=) single nucleotide variant Bethlem myopathy 1A [RCV002138353] Chr2:237368915 [GRCh38]
Chr2:238277558 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8862C>T (p.Pro2954=) single nucleotide variant Bethlem myopathy 1A [RCV002160513] Chr2:237336238 [GRCh38]
Chr2:238244881 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5501-17G>T single nucleotide variant Bethlem myopathy 1A [RCV002204349] Chr2:237366052 [GRCh38]
Chr2:238274695 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5844C>T (p.Val1948=) single nucleotide variant Bethlem myopathy 1A [RCV002124139] Chr2:237364423 [GRCh38]
Chr2:238273066 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4290T>C (p.Val1430=) single nucleotide variant Bethlem myopathy 1A [RCV002137083] Chr2:237369173 [GRCh38]
Chr2:238277816 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5568G>A (p.Lys1856=) single nucleotide variant Bethlem myopathy 1A [RCV002154091] Chr2:237365968 [GRCh38]
Chr2:238274611 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2133C>T (p.Leu711=) single nucleotide variant Bethlem myopathy 1A [RCV002159270] Chr2:237379000 [GRCh38]
Chr2:238287643 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6063+12_6063+13dup duplication Bethlem myopathy 1A [RCV002175262] Chr2:237363239..237363240 [GRCh38]
Chr2:238271882..238271883 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.6627+18C>A single nucleotide variant Bethlem myopathy 1A [RCV002137586] Chr2:237354881 [GRCh38]
Chr2:238263524 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3234C>T (p.Pro1078=) single nucleotide variant Bethlem myopathy 1A [RCV002183199] Chr2:237374857 [GRCh38]
Chr2:238283500 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5868C>T (p.Asp1956=) single nucleotide variant Bethlem myopathy 1A [RCV002157908] Chr2:237364399 [GRCh38]
Chr2:238273042 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3738T>C (p.Pro1246=) single nucleotide variant Bethlem myopathy 1A [RCV002220749] Chr2:237372279 [GRCh38]
Chr2:238280922 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8337C>T (p.Asn2779=) single nucleotide variant Bethlem myopathy 1A [RCV002203563] Chr2:237340579 [GRCh38]
Chr2:238249222 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1830C>A (p.Ala610=) single nucleotide variant Bethlem myopathy 1A [RCV002143463] Chr2:237380982 [GRCh38]
Chr2:238289625 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1533T>C (p.Ala511=) single nucleotide variant Bethlem myopathy 1A [RCV002143464] Chr2:237381279 [GRCh38]
Chr2:238289922 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+20T>C single nucleotide variant Bethlem myopathy 1A [RCV002119960] Chr2:237366667 [GRCh38]
Chr2:238275310 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7608G>T (p.Ala2536=) single nucleotide variant Bethlem myopathy 1A [RCV002098517] Chr2:237344410 [GRCh38]
Chr2:238253053 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5500+19A>G single nucleotide variant Bethlem myopathy 1A [RCV002098835] Chr2:237366668 [GRCh38]
Chr2:238275311 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8511T>C (p.Asp2837=) single nucleotide variant Bethlem myopathy 1A [RCV002158656] Chr2:237339071 [GRCh38]
Chr2:238247714 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2634T>C (p.Ala878=) single nucleotide variant Bethlem myopathy 1A [RCV002120712]|not provided [RCV004711852] Chr2:237377208 [GRCh38]
Chr2:238285851 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6157-17C>T single nucleotide variant Bethlem myopathy 1A [RCV002123873] Chr2:237361191 [GRCh38]
Chr2:238269834 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8966-20C>T single nucleotide variant Bethlem myopathy 1A [RCV002184192] Chr2:237334909 [GRCh38]
Chr2:238243552 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1898-17dup duplication Bethlem myopathy 1A [RCV002202388] Chr2:237379251..237379252 [GRCh38]
Chr2:238287894..238287895 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.1512A>T (p.Thr504=) single nucleotide variant Bethlem myopathy 1A [RCV002180271] Chr2:237381300 [GRCh38]
Chr2:238289943 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8478T>C (p.Phe2826=) single nucleotide variant Bethlem myopathy 1A [RCV002122382] Chr2:237339104 [GRCh38]
Chr2:238247747 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.590T>C (p.Met197Thr) single nucleotide variant COL6A3-related disorder [RCV004554100] Chr2:237394706 [GRCh38]
Chr2:238303349 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(238428692_?)dup duplication Bethlem myopathy 1A [RCV003113453] Chr2:238233417..238428692 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser) single nucleotide variant Bethlem myopathy 1A [RCV003111894] Chr2:237381107 [GRCh38]
Chr2:238289750 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6157-16G>C single nucleotide variant Bethlem myopathy 1A [RCV003114860] Chr2:237361190 [GRCh38]
Chr2:238269833 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7125+11T>C single nucleotide variant Bethlem myopathy 1A [RCV003112792] Chr2:237345170 [GRCh38]
Chr2:238253813 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_238272973)_(238281000_?)del deletion Bethlem myopathy 1A [RCV003113451] Chr2:238272973..238281000 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(238462235_?)dup duplication not provided [RCV003122632] Chr2:238233417..238462235 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu) single nucleotide variant Bethlem myopathy 1A [RCV003121748] Chr2:237372106 [GRCh38]
Chr2:238280749 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2057C>T (p.Thr686Ile) single nucleotide variant Inborn genetic diseases [RCV004608198] Chr2:237379076 [GRCh38]
Chr2:238287719 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2665C>A (p.Arg889Ser) single nucleotide variant Inborn genetic diseases [RCV004608206] Chr2:237377177 [GRCh38]
Chr2:238285820 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8341A>G (p.Lys2781Glu) single nucleotide variant not specified [RCV002271868] Chr2:237340575 [GRCh38]
Chr2:238249218 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6283-2A>G single nucleotide variant Bethlem myopathy 1A [RCV002254381] Chr2:237359390 [GRCh38]
Chr2:238268033 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8481del (p.Leu2828fs) deletion Ullrich congenital muscular dystrophy 1A [RCV002226905] Chr2:237339101 [GRCh38]
Chr2:238247744 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV002244140] Chr2:237381390 [GRCh38]
Chr2:238290033 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282+1G>C single nucleotide variant Collagen 6-related myopathy [RCV003225991]|not provided [RCV002286111] Chr2:237360087 [GRCh38]
Chr2:238268730 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.2907G>A (p.Val969=) single nucleotide variant Bethlem myopathy 1A [RCV003631234]|not provided [RCV002276095] Chr2:237376935 [GRCh38]
Chr2:238285578 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV002282871] Chr2:237358568 [GRCh38]
Chr2:238267211 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1439_1450del (p.Asp480_Gln483del) deletion not provided [RCV002281244] Chr2:237381362..237381373 [GRCh38]
Chr2:238290005..238290016 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu) single nucleotide variant Bethlem myopathy 1A [RCV002296878]|not provided [RCV003146536] Chr2:237374507 [GRCh38]
Chr2:238283150 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9382T>G (p.Trp3128Gly) single nucleotide variant not provided [RCV002267312] Chr2:237325671 [GRCh38]
Chr2:238234314 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2056A>C (p.Thr686Pro) single nucleotide variant Inborn genetic diseases [RCV003295519] Chr2:237379077 [GRCh38]
Chr2:238287720 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg) single nucleotide variant Bethlem myopathy 1A [RCV002290274] Chr2:237394893 [GRCh38]
Chr2:238303536 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser) single nucleotide variant Bethlem myopathy 1A [RCV002289292] Chr2:237347869 [GRCh38]
Chr2:238256512 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly) single nucleotide variant Bethlem myopathy 1A [RCV002290287] Chr2:237368967 [GRCh38]
Chr2:238277610 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs) deletion Bethlem myopathy 1A [RCV002290057] Chr2:237367224..237367237 [GRCh38]
Chr2:238275867..238275880 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.2339A>G (p.Gln780Arg) single nucleotide variant not provided [RCV002265112] Chr2:237378794 [GRCh38]
Chr2:238287437 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu) single nucleotide variant Bethlem myopathy 1A [RCV002298426] Chr2:237365877 [GRCh38]
Chr2:238274520 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6092G>A (p.Gly2031Glu) single nucleotide variant not provided [RCV002467073] Chr2:237361803 [GRCh38]
Chr2:238270446 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala) single nucleotide variant Bethlem myopathy 1A [RCV002296239] Chr2:237346508 [GRCh38]
Chr2:238255151 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.326T>C (p.Met109Thr) single nucleotide variant Inborn genetic diseases [RCV003304634] Chr2:237394970 [GRCh38]
Chr2:238303613 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6283-28A>G single nucleotide variant Bethlem myopathy 1A [RCV003147907] Chr2:237359416 [GRCh38]
Chr2:238268059 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8782G>A (p.Ala2928Thr) single nucleotide variant not provided [RCV002473983] Chr2:237336318 [GRCh38]
Chr2:238244961 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn) single nucleotide variant Bethlem myopathy 1A [RCV003517438]|not provided [RCV002469758] Chr2:237346526 [GRCh38]
Chr2:238255169 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.4129G>T (p.Glu1377Ter) single nucleotide variant Collagen 6-related myopathy [RCV002471714] Chr2:237371888 [GRCh38]
Chr2:238280531 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7435G>A (p.Ala2479Thr) single nucleotide variant not provided [RCV002306336] Chr2:237344583 [GRCh38]
Chr2:238253226 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu) single nucleotide variant Bethlem myopathy 1A [RCV002299120] Chr2:237366956 [GRCh38]
Chr2:238275599 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val) single nucleotide variant Bethlem myopathy 1A [RCV002297964] Chr2:237381124 [GRCh38]
Chr2:238289767 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp) single nucleotide variant Bethlem myopathy 1A [RCV002296113] Chr2:237387865 [GRCh38]
Chr2:238296508 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8965+9G>A single nucleotide variant Dystonia 27 [RCV002295362] Chr2:237336126 [GRCh38]
Chr2:238244769 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln) single nucleotide variant Bethlem myopathy 1A [RCV002303986] Chr2:237357840 [GRCh38]
Chr2:238266483 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly) single nucleotide variant Bethlem myopathy 1A [RCV002304013] Chr2:237344555 [GRCh38]
Chr2:238253198 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr) single nucleotide variant Bethlem myopathy 1A [RCV002296585] Chr2:237372253 [GRCh38]
Chr2:238280896 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1795T>C (p.Ser599Pro) single nucleotide variant not provided [RCV002306337] Chr2:237381017 [GRCh38]
Chr2:238289660 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala) single nucleotide variant Bethlem myopathy 1A [RCV002295385] Chr2:237387855 [GRCh38]
Chr2:238296498 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu) single nucleotide variant Bethlem myopathy 1A [RCV002298374] Chr2:237394800 [GRCh38]
Chr2:238303443 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser) single nucleotide variant Bethlem myopathy 1A [RCV002296546] Chr2:237394649 [GRCh38]
Chr2:238303292 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys) single nucleotide variant Bethlem myopathy 1A [RCV002303476] Chr2:237344787 [GRCh38]
Chr2:238253430 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7609G>C (p.Gly2537Arg) single nucleotide variant not provided [RCV002512025] Chr2:237344409 [GRCh38]
Chr2:238253052 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg) single nucleotide variant Bethlem myopathy 1A [RCV002816582] Chr2:237359052 [GRCh38]
Chr2:238267695 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys) single nucleotide variant Bethlem myopathy 1A [RCV002617161] Chr2:237379186 [GRCh38]
Chr2:238287829 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.161A>G (p.His54Arg) single nucleotide variant Bethlem myopathy 1A [RCV002613758] Chr2:237395135 [GRCh38]
Chr2:238303778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3021A>T (p.Pro1007=) single nucleotide variant Bethlem myopathy 1A [RCV002994664] Chr2:237376821 [GRCh38]
Chr2:238285464 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met) single nucleotide variant Bethlem myopathy 1A [RCV002569423]|not provided [RCV002509983] Chr2:237377068 [GRCh38]
Chr2:238285711 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val) single nucleotide variant Bethlem myopathy 1A [RCV002837929] Chr2:237352551 [GRCh38]
Chr2:238261194 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.81G>A (p.Gln27=) single nucleotide variant Bethlem myopathy 1A [RCV002972165] Chr2:237396737 [GRCh38]
Chr2:238305380 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val) single nucleotide variant Bethlem myopathy 1A [RCV003033521] Chr2:237368958 [GRCh38]
Chr2:238277601 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6966+9T>A single nucleotide variant Bethlem myopathy 1A [RCV002842082] Chr2:237348340 [GRCh38]
Chr2:238256983 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr) single nucleotide variant Bethlem myopathy 1A [RCV002967778] Chr2:237381230 [GRCh38]
Chr2:238289873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5163G>T (p.Val1721=) single nucleotide variant Bethlem myopathy 1A [RCV002863117] Chr2:237367024 [GRCh38]
Chr2:238275667 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7560A>G (p.Thr2520=) single nucleotide variant Bethlem myopathy 1A [RCV002726602] Chr2:237344458 [GRCh38]
Chr2:238253101 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val) single nucleotide variant Bethlem myopathy 1A [RCV002903958] Chr2:237334841 [GRCh38]
Chr2:238243484 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1185T>C (p.Asp395=) single nucleotide variant Bethlem myopathy 1A [RCV002685404] Chr2:237387709 [GRCh38]
Chr2:238296352 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5879C>T (p.Ala1960Val) single nucleotide variant Bethlem myopathy 1A [RCV002903123]|Inborn genetic diseases [RCV002903122]|not provided [RCV003236941] Chr2:237364388 [GRCh38]
Chr2:238273031 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.8781G>T (p.Met2927Ile) single nucleotide variant Inborn genetic diseases [RCV002901355] Chr2:237336319 [GRCh38]
Chr2:238244962 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2304C>T (p.Arg768=) single nucleotide variant Bethlem myopathy 1A [RCV002903684]|COL6A3-related disorder [RCV004548390] Chr2:237378829 [GRCh38]
Chr2:238287472 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1250C>T (p.Pro417Leu) single nucleotide variant Bethlem myopathy 1A [RCV002727306]|COL6A3-related disorder [RCV004738605] Chr2:237387644 [GRCh38]
Chr2:238296287 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8836G>A (p.Ala2946Thr) single nucleotide variant Inborn genetic diseases [RCV002840623] Chr2:237336264 [GRCh38]
Chr2:238244907 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9188G>A (p.Arg3063Lys) single nucleotide variant Bethlem myopathy 1A [RCV002815183] Chr2:237334667 [GRCh38]
Chr2:238243310 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8055G>T (p.Val2685=) single nucleotide variant Bethlem myopathy 1A [RCV002970910] Chr2:237340861 [GRCh38]
Chr2:238249504 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6147C>T (p.Ile2049=) single nucleotide variant Bethlem myopathy 1A [RCV002907820] Chr2:237361748 [GRCh38]
Chr2:238270391 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu) single nucleotide variant Bethlem myopathy 1A [RCV003034679] Chr2:237374817 [GRCh38]
Chr2:238283460 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.837C>A (p.Ile279=) single nucleotide variant Bethlem myopathy 1A [RCV002862471] Chr2:237388057 [GRCh38]
Chr2:238296700 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7655T>A (p.Ile2552Asn) single nucleotide variant not provided [RCV002488687] Chr2:237344363 [GRCh38]
Chr2:238253006 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8278C>G (p.Leu2760Val) single nucleotide variant not provided [RCV002488688] Chr2:237340638 [GRCh38]
Chr2:238249281 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3165G>A (p.Val1055=) single nucleotide variant Bethlem myopathy 1A [RCV002690322] Chr2:237374926 [GRCh38]
Chr2:238283569 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala) single nucleotide variant Bethlem myopathy 1A [RCV003017752] Chr2:237387755 [GRCh38]
Chr2:238296398 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.587A>G (p.His196Arg) single nucleotide variant Bethlem myopathy 1A [RCV002948303] Chr2:237394709 [GRCh38]
Chr2:238303352 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2794G>C (p.Ala932Pro) single nucleotide variant Bethlem myopathy 1A [RCV003015807] Chr2:237377048 [GRCh38]
Chr2:238285691 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8384T>C (p.Phe2795Ser) single nucleotide variant Inborn genetic diseases [RCV002794020] Chr2:237340532 [GRCh38]
Chr2:238249175 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro) single nucleotide variant Bethlem myopathy 1A [RCV002947776] Chr2:237395021 [GRCh38]
Chr2:238303664 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr) single nucleotide variant Bethlem myopathy 1A [RCV002756206] Chr2:237378846 [GRCh38]
Chr2:238287489 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6210+13T>C single nucleotide variant Bethlem myopathy 1A [RCV003076215] Chr2:237361108 [GRCh38]
Chr2:238269751 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2566C>T (p.Arg856Cys) single nucleotide variant Inborn genetic diseases [RCV002682276]|not provided [RCV003143533] Chr2:237377276 [GRCh38]
Chr2:238285919 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro) single nucleotide variant Bethlem myopathy 1A [RCV002730466]|Inborn genetic diseases [RCV004067783] Chr2:237380996 [GRCh38]
Chr2:238289639 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met) inversion Bethlem myopathy 1A [RCV002755554] Chr2:237381335..237381336 [GRCh38]
Chr2:238289978..238289979 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5924G>A (p.Arg1975His) single nucleotide variant Bethlem myopathy 1A [RCV002794973]|not provided [RCV003146623] Chr2:237363392 [GRCh38]
Chr2:238272035 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6597C>T (p.Gly2199=) single nucleotide variant Bethlem myopathy 1A [RCV003013841] Chr2:237354929 [GRCh38]
Chr2:238263572 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp) single nucleotide variant Bethlem myopathy 1A [RCV002816231] Chr2:237345194 [GRCh38]
Chr2:238253837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.56G>A (p.Gly19Asp) single nucleotide variant Bethlem myopathy 1A [RCV003074513] Chr2:237396762 [GRCh38]
Chr2:238305405 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.3995T>A (p.Ile1332Asn) single nucleotide variant Inborn genetic diseases [RCV002729108] Chr2:237372022 [GRCh38]
Chr2:238280665 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val) single nucleotide variant Bethlem myopathy 1A [RCV002993724]|not provided [RCV003146708] Chr2:237378950 [GRCh38]
Chr2:238287593 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu) single nucleotide variant Bethlem myopathy 1A [RCV002614904] Chr2:237372007 [GRCh38]
Chr2:238280650 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys) single nucleotide variant Bethlem myopathy 1A [RCV002616229]|Inborn genetic diseases [RCV002616230]|not provided [RCV003143514] Chr2:237374979 [GRCh38]
Chr2:238283622 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4635C>T (p.Val1545=) single nucleotide variant Bethlem myopathy 1A [RCV002776435] Chr2:237368828 [GRCh38]
Chr2:238277471 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3543C>T (p.Ile1181=) single nucleotide variant Bethlem myopathy 1A [RCV002616908] Chr2:237374548 [GRCh38]
Chr2:238283191 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala) single nucleotide variant Bethlem myopathy 1A [RCV002995949] Chr2:237395004 [GRCh38]
Chr2:238303647 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709+9A>C single nucleotide variant Bethlem myopathy 1A [RCV002815469] Chr2:237394578 [GRCh38]
Chr2:238303221 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6794G>C (p.Arg2265Thr) single nucleotide variant not provided [RCV002510119] Chr2:237351152 [GRCh38]
Chr2:238259795 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4772G>A (p.Arg1591Lys) single nucleotide variant Inborn genetic diseases [RCV002905276] Chr2:237368691 [GRCh38]
Chr2:238277334 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9494-6G>A single nucleotide variant Bethlem myopathy 1A [RCV002569411]|Myopathy [RCV002508174]|not provided [RCV003434494] Chr2:237324820 [GRCh38]
Chr2:238233463 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter) single nucleotide variant Bethlem myopathy 1A [RCV002615961]|not provided [RCV003443130] Chr2:237363324 [GRCh38]
Chr2:238271967 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser) single nucleotide variant Bethlem myopathy 1A [RCV003517442]|Inborn genetic diseases [RCV002732317]|not provided [RCV003143541] Chr2:237371735 [GRCh38]
Chr2:238280378 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del) deletion Bethlem myopathy 1A [RCV003014241] Chr2:237367209..237367211 [GRCh38]
Chr2:238275852..238275854 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.92-19C>G single nucleotide variant Bethlem myopathy 1A [RCV002880723] Chr2:237395223 [GRCh38]
Chr2:238303866 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile) single nucleotide variant Bethlem myopathy 1A [RCV002904856]|not provided [RCV003146676] Chr2:237369048 [GRCh38]
Chr2:238277691 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6880-7C>A single nucleotide variant Bethlem myopathy 1A [RCV002907660] Chr2:237348670 [GRCh38]
Chr2:238257313 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly) single nucleotide variant Bethlem myopathy 1A [RCV003015510] Chr2:237381229 [GRCh38]
Chr2:238289872 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4365T>G (p.Ile1455Met) single nucleotide variant Inborn genetic diseases [RCV002841720] Chr2:237369098 [GRCh38]
Chr2:238277741 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs) microsatellite Bethlem myopathy 1A [RCV002862606] Chr2:237395116..237395117 [GRCh38]
Chr2:238303759..238303760 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu) single nucleotide variant Bethlem myopathy 1A [RCV002730326]|Inborn genetic diseases [RCV004612244] Chr2:237333530 [GRCh38]
Chr2:238242173 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6293G>A (p.Gly2098Glu) single nucleotide variant not provided [RCV002512026] Chr2:237359378 [GRCh38]
Chr2:238268021 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.2035G>A (p.Gly679Ser) single nucleotide variant Inborn genetic diseases [RCV002728640] Chr2:237379098 [GRCh38]
Chr2:238287741 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.91+4A>G single nucleotide variant Bethlem myopathy 1A [RCV002994991] Chr2:237396723 [GRCh38]
Chr2:238305366 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7917G>A (p.Lys2639=) single nucleotide variant Bethlem myopathy 1A [RCV002794794] Chr2:237340999 [GRCh38]
Chr2:238249642 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9214G>A (p.Gly3072Arg) single nucleotide variant Bethlem myopathy 1A [RCV003075362] Chr2:237334641 [GRCh38]
Chr2:238243284 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys) single nucleotide variant Bethlem myopathy 1A [RCV003631289]|Inborn genetic diseases [RCV002779469] Chr2:237363393 [GRCh38]
Chr2:238272036 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9138A>G (p.Gly3046=) single nucleotide variant Bethlem myopathy 1A [RCV002996251] Chr2:237334717 [GRCh38]
Chr2:238243360 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr) single nucleotide variant Bethlem myopathy 1A [RCV003016677] Chr2:237358534 [GRCh38]
Chr2:238267177 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs) duplication Bethlem myopathy 1A [RCV002819552] Chr2:237325576..237325577 [GRCh38]
Chr2:238234219..238234220 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe) single nucleotide variant Bethlem myopathy 1A [RCV002771313] Chr2:237378768 [GRCh38]
Chr2:238287411 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5895A>T (p.Ala1965=) single nucleotide variant Bethlem myopathy 1A [RCV002755323] Chr2:237364372 [GRCh38]
Chr2:238273015 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser) single nucleotide variant Bethlem myopathy 1A [RCV003016779] Chr2:237351144 [GRCh38]
Chr2:238259787 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu) single nucleotide variant Bethlem myopathy 1A [RCV002843166] Chr2:237341121 [GRCh38]
Chr2:238249764 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4863A>T (p.Ala1621=) single nucleotide variant Bethlem myopathy 1A [RCV002914052] Chr2:237368600 [GRCh38]
Chr2:238277243 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu) single nucleotide variant Bethlem myopathy 1A [RCV003077527] Chr2:237379034 [GRCh38]
Chr2:238287677 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.877A>G (p.Met293Val) single nucleotide variant Bethlem myopathy 1A [RCV002593316]|Inborn genetic diseases [RCV004612191] Chr2:237388017 [GRCh38]
Chr2:238296660 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.8784C>T (p.Ala2928=) single nucleotide variant Bethlem myopathy 1A [RCV002740502] Chr2:237336316 [GRCh38]
Chr2:238244959 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6823C>A (p.Pro2275Thr) single nucleotide variant Inborn genetic diseases [RCV002691889] Chr2:237350203 [GRCh38]
Chr2:238258846 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7314C>G (p.Asn2438Lys) single nucleotide variant Bethlem myopathy 1A [RCV002705480] Chr2:237344704 [GRCh38]
Chr2:238253347 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3680-18C>T single nucleotide variant Bethlem myopathy 1A [RCV003001940] Chr2:237372355 [GRCh38]
Chr2:238280998 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9229+4_9229+7del microsatellite Bethlem myopathy 1A [RCV003055486] Chr2:237334619..237334622 [GRCh38]
Chr2:238243262..238243265 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys) single nucleotide variant Bethlem myopathy 1A [RCV002926949] Chr2:237361129 [GRCh38]
Chr2:238269772 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu) single nucleotide variant Bethlem myopathy 1A [RCV002593216] Chr2:237357821 [GRCh38]
Chr2:238266464 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3679+5G>A single nucleotide variant Bethlem myopathy 1A [RCV002640636] Chr2:237374407 [GRCh38]
Chr2:238283050 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9441A>G (p.Gly3147=) single nucleotide variant Bethlem myopathy 1A [RCV002620665] Chr2:237325612 [GRCh38]
Chr2:238234255 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu) single nucleotide variant Bethlem myopathy 1A [RCV002889762] Chr2:237344840 [GRCh38]
Chr2:238253483 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8349A>G (p.Val2783=) single nucleotide variant Bethlem myopathy 1A [RCV002825375] Chr2:237340567 [GRCh38]
Chr2:238249210 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7911G>A (p.Glu2637=) single nucleotide variant Bethlem myopathy 1A [RCV002623076] Chr2:237341005 [GRCh38]
Chr2:238249648 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys) single nucleotide variant Bethlem myopathy 1A [RCV003055716] Chr2:237365823 [GRCh38]
Chr2:238274466 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.927G>A (p.Val309=) single nucleotide variant Bethlem myopathy 1A [RCV003079505] Chr2:237387967 [GRCh38]
Chr2:238296610 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7093-17G>A single nucleotide variant Bethlem myopathy 1A [RCV003021041] Chr2:237345230 [GRCh38]
Chr2:238253873 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2790G>A (p.Lys930=) single nucleotide variant Bethlem myopathy 1A [RCV003021892] Chr2:237377052 [GRCh38]
Chr2:238285695 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3483G>T (p.Val1161=) single nucleotide variant Bethlem myopathy 1A [RCV002663046] Chr2:237374608 [GRCh38]
Chr2:238283251 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly) single nucleotide variant Bethlem myopathy 1A [RCV002570247] Chr2:237324814 [GRCh38]
Chr2:238233457 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7650G>A (p.Gln2550=) single nucleotide variant Bethlem myopathy 1A [RCV002795964] Chr2:237344368 [GRCh38]
Chr2:238253011 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-17C>A single nucleotide variant Bethlem myopathy 1A [RCV002885888] Chr2:237324831 [GRCh38]
Chr2:238233474 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1631G>T (p.Arg544Leu) single nucleotide variant Bethlem myopathy 1A [RCV002620863] Chr2:237381181 [GRCh38]
Chr2:238289824 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.565G>A (p.Ala189Thr) single nucleotide variant Bethlem myopathy 1A [RCV002975803] Chr2:237394731 [GRCh38]
Chr2:238303374 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9329-18C>A single nucleotide variant Bethlem myopathy 1A [RCV002914160] Chr2:237325742 [GRCh38]
Chr2:238234385 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala) single nucleotide variant Bethlem myopathy 1A [RCV002663035] Chr2:237325695 [GRCh38]
Chr2:238234338 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.211G>A (p.Val71Met) single nucleotide variant Bethlem myopathy 1A [RCV003036684] Chr2:237395085 [GRCh38]
Chr2:238303728 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3371C>A (p.Ala1124Glu) single nucleotide variant Bethlem myopathy 1A [RCV003009036]|Inborn genetic diseases [RCV002999656]|not provided [RCV003146717] Chr2:237374720 [GRCh38]
Chr2:238283363 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe) single nucleotide variant Bethlem myopathy 1A [RCV002638154]|not provided [RCV003143527] Chr2:237379185 [GRCh38]
Chr2:238287828 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8235C>A (p.Gly2745=) single nucleotide variant Bethlem myopathy 1A [RCV002780522] Chr2:237340681 [GRCh38]
Chr2:238249324 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs) duplication Bethlem myopathy 1A [RCV002866666] Chr2:237374586..237374587 [GRCh38]
Chr2:238283229..238283230 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp) single nucleotide variant Bethlem myopathy 1A [RCV002796039] Chr2:237378948 [GRCh38]
Chr2:238287591 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter) duplication Bethlem myopathy 1A [RCV002847127] Chr2:237363369..237363370 [GRCh38]
Chr2:238272012..238272013 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2517G>C (p.Leu839=) single nucleotide variant Bethlem myopathy 1A [RCV002591466] Chr2:237377325 [GRCh38]
Chr2:238285968 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu) single nucleotide variant Bethlem myopathy 1A [RCV002781277] Chr2:237372104 [GRCh38]
Chr2:238280747 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter) insertion Bethlem myopathy 1A [RCV002948521] Chr2:237395114..237395115 [GRCh38]
Chr2:238303757..238303758 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2655G>T (p.Lys885Asn) single nucleotide variant not specified [RCV002510304] Chr2:237377187 [GRCh38]
Chr2:238285830 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3261C>T (p.Asn1087=) single nucleotide variant Bethlem myopathy 1A [RCV002637222] Chr2:237374830 [GRCh38]
Chr2:238283473 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu) single nucleotide variant Bethlem myopathy 1A [RCV002570082] Chr2:237375000 [GRCh38]
Chr2:238283643 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5373C>T (p.Ser1791=) single nucleotide variant Bethlem myopathy 1A [RCV002638831] Chr2:237366814 [GRCh38]
Chr2:238275457 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7092+16G>C single nucleotide variant Bethlem myopathy 1A [RCV002638840] Chr2:237346487 [GRCh38]
Chr2:238255130 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-9G>A single nucleotide variant Bethlem myopathy 1A [RCV002638262] Chr2:237324823 [GRCh38]
Chr2:238233466 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys) single nucleotide variant Bethlem myopathy 1A [RCV002795842] Chr2:237379225 [GRCh38]
Chr2:238287868 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7929G>T (p.Ala2643=) single nucleotide variant Bethlem myopathy 1A [RCV003019339] Chr2:237340987 [GRCh38]
Chr2:238249630 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6282+20G>A single nucleotide variant Bethlem myopathy 1A [RCV002760443] Chr2:237360068 [GRCh38]
Chr2:238268711 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly) single nucleotide variant Bethlem myopathy 1A [RCV003077151] Chr2:237371968 [GRCh38]
Chr2:238280611 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7185G>A (p.Glu2395=) single nucleotide variant Bethlem myopathy 1A [RCV002999024] Chr2:237344833 [GRCh38]
Chr2:238253476 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.974C>T (p.Ala325Val) single nucleotide variant Inborn genetic diseases [RCV002844513] Chr2:237387920 [GRCh38]
Chr2:238296563 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs) deletion Bethlem myopathy 1A [RCV003020180] Chr2:237369029..237369036 [GRCh38]
Chr2:238277672..238277679 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7669-15T>C single nucleotide variant Bethlem myopathy 1A [RCV002735359] Chr2:237342176 [GRCh38]
Chr2:238250819 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4258T>C (p.Leu1420=) single nucleotide variant not specified [RCV002510471] Chr2:237371759 [GRCh38]
Chr2:238280402 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8780_8781inv (p.Met2927Thr) inversion Bethlem myopathy 1A [RCV002923435] Chr2:237336319..237336320 [GRCh38]
Chr2:238244962..238244963 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6816+8T>G single nucleotide variant Bethlem myopathy 1A [RCV002824288] Chr2:237351122 [GRCh38]
Chr2:238259765 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.709+16C>T single nucleotide variant Bethlem myopathy 1A [RCV002909311] Chr2:237394571 [GRCh38]
Chr2:238303214 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val) single nucleotide variant Bethlem myopathy 1A [RCV002621533] Chr2:237381422 [GRCh38]
Chr2:238290065 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1754A>T (p.Lys585Met) single nucleotide variant Inborn genetic diseases [RCV002758024] Chr2:237381058 [GRCh38]
Chr2:238289701 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2862C>T (p.Asp954=) single nucleotide variant Bethlem myopathy 1A [RCV002885396] Chr2:237376980 [GRCh38]
Chr2:238285623 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile) single nucleotide variant Bethlem myopathy 1A [RCV002620672] Chr2:237367031 [GRCh38]
Chr2:238275674 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6450T>C (p.Asp2150=) single nucleotide variant Bethlem myopathy 1A [RCV003054674] Chr2:237358542 [GRCh38]
Chr2:238267185 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2412C>T (p.Ser804=) single nucleotide variant Bethlem myopathy 1A [RCV003035848] Chr2:237378721 [GRCh38]
Chr2:238287364 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6211-11T>A single nucleotide variant Bethlem myopathy 1A [RCV002867631] Chr2:237360170 [GRCh38]
Chr2:238268813 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5838+9G>C single nucleotide variant Bethlem myopathy 1A [RCV002866406] Chr2:237365689 [GRCh38]
Chr2:238274332 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9329-7A>T single nucleotide variant Bethlem myopathy 1A [RCV002780835] Chr2:237325731 [GRCh38]
Chr2:238234374 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro) single nucleotide variant Bethlem myopathy 1A [RCV002736638] Chr2:237365958 [GRCh38]
Chr2:238274601 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser) single nucleotide variant Bethlem myopathy 1A [RCV002706674]|Inborn genetic diseases [RCV002715696] Chr2:237336240 [GRCh38]
Chr2:238244883 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu) single nucleotide variant Bethlem myopathy 1A [RCV003036575] Chr2:237388047 [GRCh38]
Chr2:238296690 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser) single nucleotide variant Bethlem myopathy 1A [RCV002797384] Chr2:237360134 [GRCh38]
Chr2:238268777 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu) single nucleotide variant Bethlem myopathy 1A [RCV002889214] Chr2:237381272 [GRCh38]
Chr2:238289915 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla) duplication Bethlem myopathy 1A [RCV002885518] Chr2:237336327..237336328 [GRCh38]
Chr2:238244970..238244971 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7093-15T>C single nucleotide variant Bethlem myopathy 1A [RCV002866219] Chr2:237345228 [GRCh38]
Chr2:238253871 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser) single nucleotide variant Bethlem myopathy 1A [RCV002913270] Chr2:237374985 [GRCh38]
Chr2:238283628 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5440G>A (p.Glu1814Lys) single nucleotide variant Inborn genetic diseases [RCV002886936] Chr2:237366747 [GRCh38]
Chr2:238275390 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6885T>C (p.Asp2295=) single nucleotide variant Bethlem myopathy 1A [RCV002923397] Chr2:237348658 [GRCh38]
Chr2:238257301 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4944C>A (p.Ile1648=) single nucleotide variant Bethlem myopathy 1A [RCV002912892] Chr2:237367243 [GRCh38]
Chr2:238275886 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His) single nucleotide variant Bethlem myopathy 1A [RCV002825012] Chr2:237374525 [GRCh38]
Chr2:238283168 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val) single nucleotide variant Bethlem myopathy 1A [RCV003018889] Chr2:237344547 [GRCh38]
Chr2:238253190 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5733C>T (p.Leu1911=) single nucleotide variant Bethlem myopathy 1A [RCV002637684] Chr2:237365803 [GRCh38]
Chr2:238274446 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7174+5G>T single nucleotide variant Bethlem myopathy 1A [RCV002824459] Chr2:237344936 [GRCh38]
Chr2:238253579 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6915A>G (p.Gly2305=) single nucleotide variant Bethlem myopathy 1A [RCV002637172] Chr2:237348628 [GRCh38]
Chr2:238257271 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro) single nucleotide variant Bethlem myopathy 1A [RCV002761434]|not provided [RCV003146621] Chr2:237378830 [GRCh38]
Chr2:238287473 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6531C>T (p.Gly2177=) single nucleotide variant Bethlem myopathy 1A [RCV002999929] Chr2:237357823 [GRCh38]
Chr2:238266466 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met) single nucleotide variant Bethlem myopathy 1A [RCV003053074] Chr2:237365868 [GRCh38]
Chr2:238274511 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC indel Bethlem myopathy 1A [RCV003054362] Chr2:237381217..237381941 [GRCh38]
Chr2:238289860..238290584 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala) single nucleotide variant Bethlem myopathy 1A [RCV002592085] Chr2:237368850 [GRCh38]
Chr2:238277493 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.771T>C (p.Asn257=) single nucleotide variant Bethlem myopathy 1A [RCV003018910] Chr2:237388123 [GRCh38]
Chr2:238296766 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6605G>A (p.Arg2202Gln) single nucleotide variant Bethlem myopathy 1A [RCV002622579] Chr2:237354921 [GRCh38]
Chr2:238263564 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile) single nucleotide variant Bethlem myopathy 1A [RCV002824397]|Inborn genetic diseases [RCV002797344] Chr2:237344421 [GRCh38]
Chr2:238253064 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys) single nucleotide variant Bethlem myopathy 1A [RCV002823962] Chr2:237381377 [GRCh38]
Chr2:238290020 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7092+5G>A single nucleotide variant Bethlem myopathy 1A [RCV003019539] Chr2:237346498 [GRCh38]
Chr2:238255141 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4391G>A (p.Arg1464Gln) single nucleotide variant Bethlem myopathy 1A [RCV002952608] Chr2:237369072 [GRCh38]
Chr2:238277715 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7669-16C>T single nucleotide variant Bethlem myopathy 1A [RCV003002459] Chr2:237342177 [GRCh38]
Chr2:238250820 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4089C>T (p.Gly1363=) single nucleotide variant Bethlem myopathy 1A [RCV002637583] Chr2:237371928 [GRCh38]
Chr2:238280571 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4678G>T (p.Ala1560Ser) single nucleotide variant Bethlem myopathy 1A [RCV002570067] Chr2:237368785 [GRCh38]
Chr2:238277428 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.4664A>G (p.Asp1555Gly) single nucleotide variant Inborn genetic diseases [RCV002869554] Chr2:237368799 [GRCh38]
Chr2:238277442 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe) single nucleotide variant Bethlem myopathy 1A [RCV002619757] Chr2:237334680 [GRCh38]
Chr2:238243323 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3680-14C>G single nucleotide variant Bethlem myopathy 1A [RCV003007618] Chr2:237372351 [GRCh38]
Chr2:238280994 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr) single nucleotide variant Bethlem myopathy 1A [RCV002805818] Chr2:237368775 [GRCh38]
Chr2:238277418 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg) single nucleotide variant Bethlem myopathy 1A [RCV002711870] Chr2:237340937 [GRCh38]
Chr2:238249580 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1839G>A (p.Leu613=) single nucleotide variant Bethlem myopathy 1A [RCV002805722] Chr2:237380973 [GRCh38]
Chr2:238289616 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4286-7T>G single nucleotide variant Bethlem myopathy 1A [RCV003024922] Chr2:237369184 [GRCh38]
Chr2:238277827 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr) single nucleotide variant Bethlem myopathy 1A [RCV002667459] Chr2:237366728 [GRCh38]
Chr2:238275371 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003042476] Chr2:237372239 [GRCh38]
Chr2:238280882 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8738C>A (p.Ala2913Asp) single nucleotide variant Bethlem myopathy 1A [RCV002574169] Chr2:237336362 [GRCh38]
Chr2:238245005 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2739C>A (p.Ala913=) single nucleotide variant Bethlem myopathy 1A [RCV002701247] Chr2:237377103 [GRCh38]
Chr2:238285746 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8291G>A (p.Cys2764Tyr) single nucleotide variant not provided [RCV003059891] Chr2:237340625 [GRCh38]
Chr2:238249268 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser) single nucleotide variant Bethlem myopathy 1A [RCV003056652] Chr2:237340467 [GRCh38]
Chr2:238249110 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7029+11G>A single nucleotide variant Bethlem myopathy 1A [RCV002917224]|Muscle weakness [RCV003229099] Chr2:237347796 [GRCh38]
Chr2:238256439 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly) single nucleotide variant Bethlem myopathy 1A [RCV002745752] Chr2:237378726 [GRCh38]
Chr2:238287369 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2498-15del deletion Bethlem myopathy 1A [RCV002572579] Chr2:237377359 [GRCh38]
Chr2:238286002 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser) single nucleotide variant Bethlem myopathy 1A [RCV002894561] Chr2:237394949 [GRCh38]
Chr2:238303592 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6817-9C>G single nucleotide variant Bethlem myopathy 1A [RCV002875772] Chr2:237350218 [GRCh38]
Chr2:238258861 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7125+19G>C single nucleotide variant Bethlem myopathy 1A [RCV003043130] Chr2:237345162 [GRCh38]
Chr2:238253805 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln) single nucleotide variant Bethlem myopathy 1A [RCV002625738]|not provided [RCV003138303] Chr2:237369006 [GRCh38]
Chr2:238277649 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu) single nucleotide variant Bethlem myopathy 1A [RCV002805723] Chr2:237394857 [GRCh38]
Chr2:238303500 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn) single nucleotide variant Bethlem myopathy 1A [RCV002933343]|not provided [RCV003146681] Chr2:237377198 [GRCh38]
Chr2:238285841 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu) single nucleotide variant Bethlem myopathy 1A [RCV002875814] Chr2:237348629 [GRCh38]
Chr2:238257272 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8611G>A (p.Val2871Met) single nucleotide variant Inborn genetic diseases [RCV002767002] Chr2:237336489 [GRCh38]
Chr2:238245132 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8082C>A (p.Ser2694=) single nucleotide variant Bethlem myopathy 1A [RCV002805426] Chr2:237340834 [GRCh38]
Chr2:238249477 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln) single nucleotide variant Bethlem myopathy 1A [RCV002895069] Chr2:237351158 [GRCh38]
Chr2:238259801 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2497+17G>T single nucleotide variant Bethlem myopathy 1A [RCV002791264] Chr2:237378619 [GRCh38]
Chr2:238287262 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6903T>C (p.Val2301=) single nucleotide variant Bethlem myopathy 1A [RCV002801637] Chr2:237348640 [GRCh38]
Chr2:238257283 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser) single nucleotide variant Bethlem myopathy 1A [RCV002894982] Chr2:237374526 [GRCh38]
Chr2:238283169 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1230C>A (p.Asp410Glu) single nucleotide variant not provided [RCV003059841] Chr2:237387664 [GRCh38]
Chr2:238296307 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1976G>T (p.Arg659Leu) single nucleotide variant Inborn genetic diseases [RCV002916019] Chr2:237379157 [GRCh38]
Chr2:238287800 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.184C>T (p.Leu62=) single nucleotide variant Bethlem myopathy 1A [RCV002852295] Chr2:237395112 [GRCh38]
Chr2:238303755 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala) single nucleotide variant Bethlem myopathy 1A [RCV002891037] Chr2:237371854 [GRCh38]
Chr2:238280497 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu) single nucleotide variant Bethlem myopathy 1A [RCV002957611] Chr2:237367263 [GRCh38]
Chr2:238275906 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr) single nucleotide variant Bethlem myopathy 1A [RCV003631288]|Inborn genetic diseases [RCV002763966]|not provided [RCV003143573] Chr2:237361824 [GRCh38]
Chr2:238270467 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr) single nucleotide variant Bethlem myopathy 1A [RCV002982690] Chr2:237381329 [GRCh38]
Chr2:238289972 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=) single nucleotide variant Bethlem myopathy 1A [RCV003041112] Chr2:237367021 [GRCh38]
Chr2:238275664 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln) single nucleotide variant Bethlem myopathy 1A [RCV003024625] Chr2:237376916 [GRCh38]
Chr2:238285559 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys) single nucleotide variant Bethlem myopathy 1A [RCV002593675] Chr2:237387813 [GRCh38]
Chr2:238296456 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg) single nucleotide variant Bethlem myopathy 1A [RCV002741648] Chr2:237361174 [GRCh38]
Chr2:238269817 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser) single nucleotide variant Bethlem myopathy 1A [RCV003040123] Chr2:237379115 [GRCh38]
Chr2:238287758 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7191C>T (p.Pro2397=) single nucleotide variant Bethlem myopathy 1A [RCV002664374] Chr2:237344827 [GRCh38]
Chr2:238253470 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser) single nucleotide variant Bethlem myopathy 1A [RCV003057322] Chr2:237387890 [GRCh38]
Chr2:238296533 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9230-1G>A single nucleotide variant Bethlem myopathy 1A [RCV002852083] Chr2:237333549 [GRCh38]
Chr2:238242192 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.9493+14C>T single nucleotide variant Bethlem myopathy 1A [RCV003056569] Chr2:237325546 [GRCh38]
Chr2:238234189 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.709+12G>A single nucleotide variant Bethlem myopathy 1A [RCV002928189] Chr2:237394575 [GRCh38]
Chr2:238303218 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1279A>G (p.Ile427Val) single nucleotide variant Bethlem myopathy 1A [RCV003023149] Chr2:237387615 [GRCh38]
Chr2:238296258 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro) microsatellite Bethlem myopathy 1A [RCV002624327] Chr2:237352560..237352561 [GRCh38]
Chr2:238261203..238261204 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.660C>T (p.Ser220=) single nucleotide variant Bethlem myopathy 1A [RCV002890206]|not provided [RCV003435831] Chr2:237394636 [GRCh38]
Chr2:238303279 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2184C>T (p.Ala728=) single nucleotide variant Bethlem myopathy 1A [RCV003043280] Chr2:237378949 [GRCh38]
Chr2:238287592 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=) single nucleotide variant Bethlem myopathy 1A [RCV002958195] Chr2:237372144 [GRCh38]
Chr2:238280787 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.251A>G (p.Asn84Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631281]|Inborn genetic diseases [RCV002854169]|not provided [RCV003143549] Chr2:237395045 [GRCh38]
Chr2:238303688 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val) single nucleotide variant Bethlem myopathy 1A [RCV002954202] Chr2:237378711 [GRCh38]
Chr2:238287354 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3747G>C (p.Gln1249His) single nucleotide variant Bethlem myopathy 1A [RCV003005145] Chr2:237372270 [GRCh38]
Chr2:238280913 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2938C>G (p.Pro980Ala) single nucleotide variant Inborn genetic diseases [RCV002929818] Chr2:237376904 [GRCh38]
Chr2:238285547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6754-20T>C single nucleotide variant Bethlem myopathy 1A [RCV003007168] Chr2:237351212 [GRCh38]
Chr2:238259855 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4615G>A (p.Gly1539Arg) single nucleotide variant Bethlem myopathy 1A [RCV002790463]|not provided [RCV003434510] Chr2:237368848 [GRCh38]
Chr2:238277491 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly) single nucleotide variant Bethlem myopathy 1A [RCV002667613] Chr2:237371867 [GRCh38]
Chr2:238280510 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5500+17G>T single nucleotide variant Bethlem myopathy 1A [RCV003025966] Chr2:237366670 [GRCh38]
Chr2:238275313 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4255C>T (p.Leu1419Phe) single nucleotide variant Bethlem myopathy 1A [RCV002711438] Chr2:237371762 [GRCh38]
Chr2:238280405 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8465-9T>C single nucleotide variant Bethlem myopathy 1A [RCV002712000] Chr2:237339126 [GRCh38]
Chr2:238247769 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg) single nucleotide variant Bethlem myopathy 1A [RCV002740956] Chr2:237359072 [GRCh38]
Chr2:238267715 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg) single nucleotide variant Bethlem myopathy 1A [RCV003056520] Chr2:237363293 [GRCh38]
Chr2:238271936 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe) single nucleotide variant Bethlem myopathy 1A [RCV002625551] Chr2:237344718 [GRCh38]
Chr2:238253361 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.862G>C (p.Asp288His) single nucleotide variant Bethlem myopathy 1A [RCV002745559]|Inborn genetic diseases [RCV004067734] Chr2:237388032 [GRCh38]
Chr2:238296675 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3648G>A (p.Leu1216=) single nucleotide variant Bethlem myopathy 1A [RCV002624574] Chr2:237374443 [GRCh38]
Chr2:238283086 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg) single nucleotide variant Bethlem myopathy 1A [RCV002595796]|not provided [RCV003435880] Chr2:237376943 [GRCh38]
Chr2:238285586 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr) single nucleotide variant Bethlem myopathy 1A [RCV002594663] Chr2:237347820 [GRCh38]
Chr2:238256463 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5964G>A (p.Leu1988=) single nucleotide variant Bethlem myopathy 1A [RCV002894818] Chr2:237363352 [GRCh38]
Chr2:238271995 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg) deletion Bethlem myopathy 1A [RCV003040676] Chr2:237360123..237360125 [GRCh38]
Chr2:238268766..238268768 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2612A>G (p.Glu871Gly) single nucleotide variant Bethlem myopathy 1A [RCV002852595] Chr2:237377230 [GRCh38]
Chr2:238285873 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly) single nucleotide variant Bethlem myopathy 1A [RCV002663726] Chr2:237365831 [GRCh38]
Chr2:238274474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4060G>A (p.Asp1354Asn) single nucleotide variant Bethlem myopathy 1A [RCV003082120] Chr2:237371957 [GRCh38]
Chr2:238280600 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2604G>A (p.Val868=) single nucleotide variant Bethlem myopathy 1A [RCV002894737] Chr2:237377238 [GRCh38]
Chr2:238285881 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6064-11C>T single nucleotide variant Bethlem myopathy 1A [RCV002595381] Chr2:237361842 [GRCh38]
Chr2:238270485 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7162+1G>A single nucleotide variant Bethlem myopathy 1A [RCV002664288] Chr2:237345057 [GRCh38]
Chr2:238253700 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.7515A>T (p.Gly2505=) single nucleotide variant Bethlem myopathy 1A [RCV002958184] Chr2:237344503 [GRCh38]
Chr2:238253146 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6967-2A>G single nucleotide variant Bethlem myopathy 1A [RCV002643422] Chr2:237347871 [GRCh38]
Chr2:238256514 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.384C>T (p.Ser128=) single nucleotide variant Bethlem myopathy 1A [RCV002666784] Chr2:237394912 [GRCh38]
Chr2:238303555 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4470G>A (p.Leu1490=) single nucleotide variant Bethlem myopathy 1A [RCV002711708] Chr2:237368993 [GRCh38]
Chr2:238277636 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8460C>T (p.Val2820=) single nucleotide variant Bethlem myopathy 1A [RCV002958190] Chr2:237340456 [GRCh38]
Chr2:238249099 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe) single nucleotide variant Bethlem myopathy 1A [RCV002914685] Chr2:237377246 [GRCh38]
Chr2:238285889 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1119C>T (p.Ser373=) single nucleotide variant Bethlem myopathy 1A [RCV002624583] Chr2:237387775 [GRCh38]
Chr2:238296418 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6002T>A (p.Met2001Lys) single nucleotide variant Inborn genetic diseases [RCV002853919] Chr2:237363314 [GRCh38]
Chr2:238271957 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6916C>T (p.Arg2306Cys) single nucleotide variant Bethlem myopathy 1A [RCV002917531]|not provided [RCV003146662] Chr2:237348627 [GRCh38]
Chr2:238257270 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7766-14A>G single nucleotide variant Bethlem myopathy 1A [RCV002593696] Chr2:237341164 [GRCh38]
Chr2:238249807 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3320A>T (p.Asn1107Ile) single nucleotide variant Bethlem myopathy 1A [RCV002594214] Chr2:237374771 [GRCh38]
Chr2:238283414 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7017C>A (p.Ile2339=) single nucleotide variant Bethlem myopathy 1A [RCV002893868] Chr2:237347819 [GRCh38]
Chr2:238256462 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3127_3129delinsAGT (p.Gly1043Ser) indel not provided [RCV002508475] Chr2:237374962..237374964 [GRCh38]
Chr2:238283605..238283607 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala) single nucleotide variant Bethlem myopathy 1A [RCV002786442] Chr2:237325724 [GRCh38]
Chr2:238234367 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7843G>T (p.Asp2615Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003517445]|Inborn genetic diseases [RCV002765238] Chr2:237341073 [GRCh38]
Chr2:238249716 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.1531G>A (p.Ala511Thr) single nucleotide variant Bethlem myopathy 1A [RCV002745458] Chr2:237381281 [GRCh38]
Chr2:238289924 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2262G>A (p.Gln754=) single nucleotide variant Bethlem myopathy 1A [RCV003083615] Chr2:237378871 [GRCh38]
Chr2:238287514 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4974G>T (p.Val1658=) single nucleotide variant Bethlem myopathy 1A [RCV003058841] Chr2:237367213 [GRCh38]
Chr2:238275856 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu) single nucleotide variant Bethlem myopathy 1A [RCV002664006]|Inborn genetic diseases [RCV003250826] Chr2:237375017 [GRCh38]
Chr2:238283660 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7440G>A (p.Leu2480=) single nucleotide variant Bethlem myopathy 1A [RCV002829803] Chr2:237344578 [GRCh38]
Chr2:238253221 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6627+9C>T single nucleotide variant Bethlem myopathy 1A [RCV003043149] Chr2:237354890 [GRCh38]
Chr2:238263533 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4285+16C>T single nucleotide variant Bethlem myopathy 1A [RCV003056748] Chr2:237371716 [GRCh38]
Chr2:238280359 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6569G>T (p.Gly2190Val) single nucleotide variant Inborn genetic diseases [RCV002929819] Chr2:237357360 [GRCh38]
Chr2:238266003 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg) single nucleotide variant Bethlem myopathy 1A [RCV002711816] Chr2:237345206 [GRCh38]
Chr2:238253849 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr) duplication Bethlem myopathy 1A [RCV002786576] Chr2:237336409..237336410 [GRCh38]
Chr2:238245052..238245053 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val) single nucleotide variant Bethlem myopathy 1A [RCV002711869] Chr2:237371923 [GRCh38]
Chr2:238280566 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln) single nucleotide variant Bethlem myopathy 1A [RCV003083836] Chr2:237348359 [GRCh38]
Chr2:238257002 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8640G>A (p.Thr2880=) single nucleotide variant Bethlem myopathy 1A [RCV002829462] Chr2:237336460 [GRCh38]
Chr2:238245103 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6717A>G (p.Pro2239=) single nucleotide variant Bethlem myopathy 1A [RCV003007899] Chr2:237352558 [GRCh38]
Chr2:238261201 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8847A>G (p.Pro2949=) single nucleotide variant Bethlem myopathy 1A [RCV003058342] Chr2:237336253 [GRCh38]
Chr2:238244896 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys) single nucleotide variant Bethlem myopathy 1A [RCV002957603] Chr2:237361776 [GRCh38]
Chr2:238270419 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9493+16T>C single nucleotide variant Bethlem myopathy 1A [RCV002667390] Chr2:237325544 [GRCh38]
Chr2:238234187 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6754-18C>T single nucleotide variant Bethlem myopathy 1A [RCV002573906] Chr2:237351210 [GRCh38]
Chr2:238259853 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn) single nucleotide variant Bethlem myopathy 1A [RCV002740598] Chr2:237377341 [GRCh38]
Chr2:238285984 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4865C>T (p.Pro1622Leu) single nucleotide variant Inborn genetic diseases [RCV002893336] Chr2:237368598 [GRCh38]
Chr2:238277241 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile) single nucleotide variant Bethlem myopathy 1A [RCV002596469] Chr2:237376945 [GRCh38]
Chr2:238285588 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6355-10T>C single nucleotide variant Bethlem myopathy 1A [RCV002667593] Chr2:237359098 [GRCh38]
Chr2:238267741 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg) single nucleotide variant Bethlem myopathy 1A [RCV002800665]|not provided [RCV003146636] Chr2:237358565 [GRCh38]
Chr2:238267208 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp) single nucleotide variant Bethlem myopathy 1A [RCV002651627] Chr2:237360149 [GRCh38]
Chr2:238268792 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6213T>C (p.Gly2071=) single nucleotide variant Bethlem myopathy 1A [RCV002581751] Chr2:237360157 [GRCh38]
Chr2:238268800 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser) single nucleotide variant Bethlem myopathy 1A [RCV002651681] Chr2:237336360 [GRCh38]
Chr2:238245003 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser) single nucleotide variant Bethlem myopathy 1A [RCV003063781] Chr2:237372321 [GRCh38]
Chr2:238280964 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His) single nucleotide variant Bethlem myopathy 1A [RCV003031809] Chr2:237325588 [GRCh38]
Chr2:238234231 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs) deletion Bethlem myopathy 1A [RCV002810900] Chr2:237368930 [GRCh38]
Chr2:238277573 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser) single nucleotide variant Bethlem myopathy 1A [RCV003030818] Chr2:237368914 [GRCh38]
Chr2:238277557 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631278]|Inborn genetic diseases [RCV002673775] Chr2:237365886 [GRCh38]
Chr2:238274529 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4493C>T (p.Pro1498Leu) single nucleotide variant Bethlem myopathy 1A [RCV002582195]|Inborn genetic diseases [RCV004068763] Chr2:237368970 [GRCh38]
Chr2:238277613 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.3354C>T (p.Asn1118=) single nucleotide variant Bethlem myopathy 1A [RCV002650995] Chr2:237374737 [GRCh38]
Chr2:238283380 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1372C>T (p.Leu458=) single nucleotide variant Bethlem myopathy 1A [RCV002676636] Chr2:237381440 [GRCh38]
Chr2:238290083 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val) single nucleotide variant Bethlem myopathy 1A [RCV002675584]|not provided [RCV003146599] Chr2:237342148 [GRCh38]
Chr2:238250791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6690+13G>A single nucleotide variant Bethlem myopathy 1A [RCV003088913] Chr2:237353328 [GRCh38]
Chr2:238261971 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu) single nucleotide variant Bethlem myopathy 1A [RCV003091076]|not provided [RCV003143474] Chr2:237363378 [GRCh38]
Chr2:238272021 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg) single nucleotide variant Bethlem myopathy 1A [RCV002581537]|Inborn genetic diseases [RCV003377883] Chr2:237394799 [GRCh38]
Chr2:238303442 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser) single nucleotide variant Bethlem myopathy 1A [RCV002942000] Chr2:237334673 [GRCh38]
Chr2:238243316 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5172G>A (p.Glu1724=) single nucleotide variant Bethlem myopathy 1A [RCV002721020] Chr2:237367015 [GRCh38]
Chr2:238275658 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5605A>G (p.Ile1869Val) single nucleotide variant Bethlem myopathy 1A [RCV003091048]|not provided [RCV004546762] Chr2:237365931 [GRCh38]
Chr2:238274574 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile) single nucleotide variant Bethlem myopathy 1A [RCV002632464] Chr2:237367101 [GRCh38]
Chr2:238275744 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8464+7C>T single nucleotide variant Bethlem myopathy 1A [RCV002670950] Chr2:237340445 [GRCh38]
Chr2:238249088 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val) single nucleotide variant Bethlem myopathy 1A [RCV003046027] Chr2:237372308 [GRCh38]
Chr2:238280951 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His) single nucleotide variant Bethlem myopathy 1A [RCV003008494] Chr2:237345183 [GRCh38]
Chr2:238253826 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln) single nucleotide variant Bethlem myopathy 1A [RCV002651629] Chr2:237395120 [GRCh38]
Chr2:238303763 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7131T>C (p.Cys2377=) single nucleotide variant Bethlem myopathy 1A [RCV002598384] Chr2:237345089 [GRCh38]
Chr2:238253732 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.8031T>C (p.Asn2677=) single nucleotide variant Bethlem myopathy 1A [RCV002648011] Chr2:237340885 [GRCh38]
Chr2:238249528 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys) single nucleotide variant Bethlem myopathy 1A [RCV002937588]|not provided [RCV003146677] Chr2:237381035 [GRCh38]
Chr2:238289678 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr) single nucleotide variant Bethlem myopathy 1A [RCV002629616] Chr2:237394896 [GRCh38]
Chr2:238303539 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631283]|Inborn genetic diseases [RCV002896118] Chr2:237372013 [GRCh38]
Chr2:238280656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8833G>A (p.Val2945Ile) single nucleotide variant Inborn genetic diseases [RCV002896864] Chr2:237336267 [GRCh38]
Chr2:238244910 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1838T>G (p.Leu613Trp) single nucleotide variant Inborn genetic diseases [RCV002960131] Chr2:237380974 [GRCh38]
Chr2:238289617 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val) single nucleotide variant Bethlem myopathy 1A [RCV003060854] Chr2:237396786 [GRCh38]
Chr2:238305429 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser) single nucleotide variant Bethlem myopathy 1A [RCV003028007] Chr2:237374662 [GRCh38]
Chr2:238283305 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln) single nucleotide variant Bethlem myopathy 1A [RCV002629172] Chr2:237376791 [GRCh38]
Chr2:238285434 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn) single nucleotide variant Bethlem myopathy 1A [RCV002646193]|Inborn genetic diseases [RCV004612224] Chr2:237372230 [GRCh38]
Chr2:238280873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4407C>A (p.Gly1469=) single nucleotide variant Bethlem myopathy 1A [RCV002962543] Chr2:237369056 [GRCh38]
Chr2:238277699 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp) single nucleotide variant Bethlem myopathy 1A [RCV003062972] Chr2:237372276 [GRCh38]
Chr2:238280919 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003061142]|Inborn genetic diseases [RCV003068584] Chr2:237394614 [GRCh38]
Chr2:238303257 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3189C>T (p.Asp1063=) single nucleotide variant Bethlem myopathy 1A [RCV002649365] Chr2:237374902 [GRCh38]
Chr2:238283545 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys) single nucleotide variant Bethlem myopathy 1A [RCV002715418] Chr2:237381032 [GRCh38]
Chr2:238289675 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser) single nucleotide variant Bethlem myopathy 1A [RCV002629494] Chr2:237345058 [GRCh38]
Chr2:238253701 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2844C>T (p.Val948=) single nucleotide variant Bethlem myopathy 1A [RCV002647892]|not provided [RCV004585001] Chr2:237376998 [GRCh38]
Chr2:238285641 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala) single nucleotide variant Bethlem myopathy 1A [RCV002672159] Chr2:237394853 [GRCh38]
Chr2:238303496 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8478T>G (p.Phe2826Leu) single nucleotide variant Inborn genetic diseases [RCV002921115] Chr2:237339104 [GRCh38]
Chr2:238247747 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del) deletion Bethlem myopathy 1A [RCV003046745] Chr2:237388130..237388135 [GRCh38]
Chr2:238296773..238296778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7334T>G (p.Val2445Gly) single nucleotide variant Inborn genetic diseases [RCV002831866] Chr2:237344684 [GRCh38]
Chr2:238253327 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8163C>T (p.Tyr2721=) single nucleotide variant Bethlem myopathy 1A [RCV002628218] Chr2:237340753 [GRCh38]
Chr2:238249396 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4749G>A (p.Leu1583=) single nucleotide variant Bethlem myopathy 1A [RCV002599228] Chr2:237368714 [GRCh38]
Chr2:238277357 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser) single nucleotide variant Bethlem myopathy 1A [RCV003027936] Chr2:237394758 [GRCh38]
Chr2:238303401 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val) single nucleotide variant Bethlem myopathy 1A [RCV002647983] Chr2:237387720 [GRCh38]
Chr2:238296363 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2250del (p.Thr751fs) deletion Bethlem myopathy 1A [RCV002576577] Chr2:237378883 [GRCh38]
Chr2:238287526 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8966-11C>A single nucleotide variant Bethlem myopathy 1A [RCV002895743] Chr2:237334900 [GRCh38]
Chr2:238243543 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter) single nucleotide variant Bethlem myopathy 1A [RCV003046909] Chr2:237387660 [GRCh38]
Chr2:238296303 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser) single nucleotide variant Bethlem myopathy 1A [RCV002791956] Chr2:237368898 [GRCh38]
Chr2:238277541 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8598T>C (p.Pro2866=) single nucleotide variant Bethlem myopathy 1A [RCV003062886] Chr2:237336502 [GRCh38]
Chr2:238245145 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7175-3C>T single nucleotide variant Bethlem myopathy 1A [RCV003045073] Chr2:237344846 [GRCh38]
Chr2:238253489 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3574C>T (p.Arg1192Cys) single nucleotide variant Inborn genetic diseases [RCV002673434] Chr2:237374517 [GRCh38]
Chr2:238283160 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter) single nucleotide variant Bethlem myopathy 1A [RCV002834194] Chr2:237368719 [GRCh38]
Chr2:238277362 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe) single nucleotide variant Bethlem myopathy 1A [RCV002899709] Chr2:237369151 [GRCh38]
Chr2:238277794 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys) single nucleotide variant Bethlem myopathy 1A [RCV002632138] Chr2:237365759 [GRCh38]
Chr2:238274402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1970A>G (p.Tyr657Cys) single nucleotide variant Inborn genetic diseases [RCV002792760] Chr2:237379163 [GRCh38]
Chr2:238287806 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1347G>A (p.Leu449=) single nucleotide variant Bethlem myopathy 1A [RCV002672152] Chr2:237381465 [GRCh38]
Chr2:238290108 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp) single nucleotide variant Bethlem myopathy 1A [RCV003064074] Chr2:237366035 [GRCh38]
Chr2:238274678 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile) single nucleotide variant Bethlem myopathy 1A [RCV002632150] Chr2:237336512 [GRCh38]
Chr2:238245155 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1197G>A (p.Val399=) single nucleotide variant Bethlem myopathy 1A [RCV003088562] Chr2:237387697 [GRCh38]
Chr2:238296340 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5019C>A (p.Gly1673=) single nucleotide variant Bethlem myopathy 1A [RCV002856235] Chr2:237367168 [GRCh38]
Chr2:238275811 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8736G>A (p.Pro2912=) single nucleotide variant Bethlem myopathy 1A [RCV002650996] Chr2:237336364 [GRCh38]
Chr2:238245007 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu) single nucleotide variant Bethlem myopathy 1A [RCV002806616] Chr2:237387990 [GRCh38]
Chr2:238296633 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2027T>C (p.Ile676Thr) single nucleotide variant Inborn genetic diseases [RCV002878418] Chr2:237379106 [GRCh38]
Chr2:238287749 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7093-18C>T single nucleotide variant Bethlem myopathy 1A [RCV002629526] Chr2:237345231 [GRCh38]
Chr2:238253874 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6409-19A>G single nucleotide variant Bethlem myopathy 1A [RCV003027510] Chr2:237358602 [GRCh38]
Chr2:238267245 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn) single nucleotide variant Bethlem myopathy 1A [RCV003029982] Chr2:237348613 [GRCh38]
Chr2:238257256 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1243T>C (p.Leu415=) single nucleotide variant Bethlem myopathy 1A [RCV003089379] Chr2:237387651 [GRCh38]
Chr2:238296294 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1104A>C (p.Ala368=) single nucleotide variant Bethlem myopathy 1A [RCV002629317] Chr2:237387790 [GRCh38]
Chr2:238296433 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn) single nucleotide variant Bethlem myopathy 1A [RCV002937630]|not provided [RCV003146678] Chr2:237366735 [GRCh38]
Chr2:238275378 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser) single nucleotide variant Bethlem myopathy 1A [RCV002649596] Chr2:237336336 [GRCh38]
Chr2:238244979 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6753+15A>G single nucleotide variant Bethlem myopathy 1A [RCV002937652] Chr2:237352507 [GRCh38]
Chr2:238261150 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2766T>C (p.Tyr922=) single nucleotide variant Bethlem myopathy 1A [RCV003009914] Chr2:237377076 [GRCh38]
Chr2:238285719 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs) deletion Bethlem myopathy 1A [RCV002834195] Chr2:237381109..237381113 [GRCh38]
Chr2:238289752..238289756 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu) single nucleotide variant Bethlem myopathy 1A [RCV002898824] Chr2:237366857 [GRCh38]
Chr2:238275500 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6879+18T>C single nucleotide variant Bethlem myopathy 1A [RCV002811336] Chr2:237350129 [GRCh38]
Chr2:238258772 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro) single nucleotide variant Bethlem myopathy 1A [RCV002651628] Chr2:237374744 [GRCh38]
Chr2:238283387 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6690+12C>T single nucleotide variant Bethlem myopathy 1A [RCV003091701] Chr2:237353329 [GRCh38]
Chr2:238261972 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys) single nucleotide variant Bethlem myopathy 1A [RCV003047909] Chr2:237378841 [GRCh38]
Chr2:238287484 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7825A>C (p.Arg2609=) single nucleotide variant Bethlem myopathy 1A [RCV003049028] Chr2:237341091 [GRCh38]
Chr2:238249734 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1624G>C (p.Gly542Arg) single nucleotide variant Bethlem myopathy 1A [RCV002792003] Chr2:237381188 [GRCh38]
Chr2:238289831 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6354+5G>A single nucleotide variant Bethlem myopathy 1A [RCV002806310]|not provided [RCV003146642] Chr2:237359201 [GRCh38]
Chr2:238267844 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr) single nucleotide variant Bethlem myopathy 1A [RCV002651020]|Inborn genetic diseases [RCV004070747] Chr2:237379211 [GRCh38]
Chr2:238287854 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu) single nucleotide variant Bethlem myopathy 1A [RCV003008947] Chr2:237340466 [GRCh38]
Chr2:238249109 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp) single nucleotide variant Bethlem myopathy 1A [RCV002600789] Chr2:237344694 [GRCh38]
Chr2:238253337 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg) single nucleotide variant Bethlem myopathy 1A [RCV002720378] Chr2:237376816 [GRCh38]
Chr2:238285459 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2497+20G>A single nucleotide variant Bethlem myopathy 1A [RCV002629602] Chr2:237378616 [GRCh38]
Chr2:238287259 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1335C>T (p.Asp445=) single nucleotide variant Bethlem myopathy 1A [RCV003063262] Chr2:237381477 [GRCh38]
Chr2:238290120 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met) single nucleotide variant Bethlem myopathy 1A [RCV002627891] Chr2:237360138 [GRCh38]
Chr2:238268781 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9029A>T (p.Glu3010Val) single nucleotide variant Inborn genetic diseases [RCV002674325] Chr2:237334826 [GRCh38]
Chr2:238243469 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp) single nucleotide variant Bethlem myopathy 1A [RCV003009545] Chr2:237394835 [GRCh38]
Chr2:238303478 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6064-16C>A single nucleotide variant Bethlem myopathy 1A [RCV003087327] Chr2:237361847 [GRCh38]
Chr2:238270490 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu) single nucleotide variant Bethlem myopathy 1A [RCV002944220] Chr2:237357819 [GRCh38]
Chr2:238266462 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6313G>A (p.Glu2105Lys) single nucleotide variant Inborn genetic diseases [RCV002680465] Chr2:237359247 [GRCh38]
Chr2:238267890 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7780G>A (p.Asp2594Asn) single nucleotide variant Bethlem myopathy 1A [RCV002944048] Chr2:237341136 [GRCh38]
Chr2:238249779 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg) single nucleotide variant Bethlem myopathy 1A [RCV002942465] Chr2:237344423 [GRCh38]
Chr2:238253066 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu) single nucleotide variant Bethlem myopathy 1A [RCV002635219] Chr2:237388148 [GRCh38]
Chr2:238296791 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.11A>G (p.His4Arg) single nucleotide variant Bethlem myopathy 1A [RCV002583712] Chr2:237396807 [GRCh38]
Chr2:238305450 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7673A>G (p.Asn2558Ser) single nucleotide variant Bethlem myopathy 1A [RCV002654454] Chr2:237342157 [GRCh38]
Chr2:238250800 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.45C>G (p.Leu15=) single nucleotide variant Bethlem myopathy 1A [RCV003032138] Chr2:237396773 [GRCh38]
Chr2:238305416 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2293G>A (p.Ala765Thr) single nucleotide variant Bethlem myopathy 1A [RCV003068586] Chr2:237378840 [GRCh38]
Chr2:238287483 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4901-9C>G single nucleotide variant Bethlem myopathy 1A [RCV002605214] Chr2:237367295 [GRCh38]
Chr2:238275938 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6537+15A>G single nucleotide variant Bethlem myopathy 1A [RCV003092354] Chr2:237357802 [GRCh38]
Chr2:238266445 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1494T>C (p.Tyr498=) single nucleotide variant Bethlem myopathy 1A [RCV002588631] Chr2:237381318 [GRCh38]
Chr2:238289961 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn) single nucleotide variant Bethlem myopathy 1A [RCV002680985] Chr2:237372259 [GRCh38]
Chr2:238280902 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9494-16C>G single nucleotide variant Bethlem myopathy 1A [RCV002944156] Chr2:237324830 [GRCh38]
Chr2:238233473 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3231G>A (p.Arg1077=) single nucleotide variant Bethlem myopathy 1A [RCV003071474] Chr2:237374860 [GRCh38]
Chr2:238283503 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala) single nucleotide variant Bethlem myopathy 1A [RCV002583065] Chr2:237344684 [GRCh38]
Chr2:238253327 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly) single nucleotide variant Bethlem myopathy 1A [RCV003071622] Chr2:237341150 [GRCh38]
Chr2:238249793 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9328+8G>A single nucleotide variant Bethlem myopathy 1A [RCV003049838] Chr2:237333442 [GRCh38]
Chr2:238242085 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3582G>A (p.Leu1194=) single nucleotide variant Bethlem myopathy 1A [RCV003051002] Chr2:237374509 [GRCh38]
Chr2:238283152 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9494-15TC[2] microsatellite Bethlem myopathy 1A [RCV003072944] Chr2:237324824..237324825 [GRCh38]
Chr2:238233467..238233468 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2724C>G (p.Ile908Met) single nucleotide variant Bethlem myopathy 1A [RCV002583711] Chr2:237377118 [GRCh38]
Chr2:238285761 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6880-20C>A single nucleotide variant Bethlem myopathy 1A [RCV003067825]|COL6A3-related disorder [RCV004550377] Chr2:237348683 [GRCh38]
Chr2:238257326 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr) single nucleotide variant Bethlem myopathy 1A [RCV002608702]|not provided [RCV003126256] Chr2:237339091 [GRCh38]
Chr2:238247734 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp) single nucleotide variant Bethlem myopathy 1A [RCV002589829] Chr2:237336227 [GRCh38]
Chr2:238244870 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1833C>A (p.Ala611=) single nucleotide variant Bethlem myopathy 1A [RCV002585432] Chr2:237380979 [GRCh38]
Chr2:238289622 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly) single nucleotide variant Bethlem myopathy 1A [RCV002587316] Chr2:237369073 [GRCh38]
Chr2:238277716 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp) single nucleotide variant Bethlem myopathy 1A [RCV002680845] Chr2:237387901 [GRCh38]
Chr2:238296544 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8075A>G (p.Tyr2692Cys) single nucleotide variant Bethlem myopathy 1A [RCV002658174]|Inborn genetic diseases [RCV002658175] Chr2:237340841 [GRCh38]
Chr2:238249484 [GRCh37]
Chr2:2q37.3		 benign|uncertain significance
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly) single nucleotide variant Bethlem myopathy 1A [RCV002635116] Chr2:237366023 [GRCh38]
Chr2:238274666 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6063+13T>A single nucleotide variant Bethlem myopathy 1A [RCV003092492] Chr2:237363240 [GRCh38]
Chr2:238271883 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8407G>A (p.Glu2803Lys) single nucleotide variant Bethlem myopathy 1A [RCV003631277]|Inborn genetic diseases [RCV002656816] Chr2:237340509 [GRCh38]
Chr2:238249152 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6283-15C>A single nucleotide variant Bethlem myopathy 1A [RCV003071183] Chr2:237359403 [GRCh38]
Chr2:238268046 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.9046G>C (p.Gly3016Arg) single nucleotide variant Bethlem myopathy 1A [RCV003068009]|Inborn genetic diseases [RCV004070309] Chr2:237334809 [GRCh38]
Chr2:238243452 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4521G>A (p.Arg1507=) single nucleotide variant Bethlem myopathy 1A [RCV002611405] Chr2:237368942 [GRCh38]
Chr2:238277585 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2595G>A (p.Glu865=) single nucleotide variant Bethlem myopathy 1A [RCV002654416] Chr2:237377247 [GRCh38]
Chr2:238285890 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7854C>T (p.Ile2618=) single nucleotide variant Bethlem myopathy 1A [RCV003069574] Chr2:237341062 [GRCh38]
Chr2:238249705 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5892A>T (p.Arg1964Ser) single nucleotide variant Bethlem myopathy 1A [RCV002944054]|Inborn genetic diseases [RCV004068340]|not provided [RCV003146702] Chr2:237364375 [GRCh38]
Chr2:238273018 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser) single nucleotide variant Bethlem myopathy 1A [RCV003072089] Chr2:237341106 [GRCh38]
Chr2:238249749 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9093C>T (p.Ser3031=) single nucleotide variant Bethlem myopathy 1A [RCV002943008]|not provided [RCV003883855] Chr2:237334762 [GRCh38]
Chr2:238243405 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6627+3G>A single nucleotide variant Bethlem myopathy 1A [RCV002653545]|not provided [RCV003146600] Chr2:237354896 [GRCh38]
Chr2:238263539 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7848G>A (p.Val2616=) single nucleotide variant Bethlem myopathy 1A [RCV002815111] Chr2:237341068 [GRCh38]
Chr2:238249711 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5653G>A (p.Val1885Met) single nucleotide variant Bethlem myopathy 1A [RCV003072625] Chr2:237365883 [GRCh38]
Chr2:238274526 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.937G>A (p.Gly313Arg) single nucleotide variant Bethlem myopathy 1A [RCV002589640] Chr2:237387957 [GRCh38]
Chr2:238296600 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala) single nucleotide variant Bethlem myopathy 1A [RCV002612075] Chr2:237369150 [GRCh38]
Chr2:238277793 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6441A>G (p.Glu2147=) single nucleotide variant Bethlem myopathy 1A [RCV002943238] Chr2:237358551 [GRCh38]
Chr2:238267194 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val) single nucleotide variant Bethlem myopathy 1A [RCV003070513] Chr2:237334722 [GRCh38]
Chr2:238243365 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile) single nucleotide variant Bethlem myopathy 1A [RCV002589754] Chr2:237344720 [GRCh38]
Chr2:238253363 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7175-6C>T single nucleotide variant Bethlem myopathy 1A [RCV002612233] Chr2:237344849 [GRCh38]
Chr2:238253492 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly) single nucleotide variant Bethlem myopathy 1A [RCV002603065] Chr2:237341066 [GRCh38]
Chr2:238249709 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4164G>A (p.Val1388=) single nucleotide variant Bethlem myopathy 1A [RCV003070976] Chr2:237371853 [GRCh38]
Chr2:238280496 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6408+17G>A single nucleotide variant Bethlem myopathy 1A [RCV002612570] Chr2:237359018 [GRCh38]
Chr2:238267661 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003142267] Chr2:237367041 [GRCh38]
Chr2:238275684 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8972T>A (p.Met2991Lys) single nucleotide variant not provided [RCV003143311] Chr2:237334883 [GRCh38]
Chr2:238243526 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8515T>A (p.Phe2839Ile) single nucleotide variant not provided [RCV003143312] Chr2:237339067 [GRCh38]
Chr2:238247710 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7469C>T (p.Ala2490Val) single nucleotide variant not provided [RCV003143313] Chr2:237344549 [GRCh38]
Chr2:238253192 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8939C>T (p.Thr2980Ile) single nucleotide variant not provided [RCV003143320] Chr2:237336161 [GRCh38]
Chr2:238244804 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8866del (p.Ala2956fs) deletion not provided [RCV003143736] Chr2:237336234 [GRCh38]
Chr2:238244877 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4598G>A (p.Gly1533Glu) single nucleotide variant not provided [RCV003143314] Chr2:237368865 [GRCh38]
Chr2:238277508 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe) single nucleotide variant Bethlem myopathy 1A [RCV003517460]|not provided [RCV003143318] Chr2:237340853 [GRCh38]
Chr2:238249496 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631296]|not provided [RCV003143328] Chr2:237351186 [GRCh38]
Chr2:238259829 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8883del (p.Lys2961fs) deletion Dystonia 27 [RCV003140301] Chr2:237336217 [GRCh38]
Chr2:238244860 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.77A>C (p.Gln26Pro) single nucleotide variant not provided [RCV003145836] Chr2:237396741 [GRCh38]
Chr2:238305384 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val) single nucleotide variant Bethlem myopathy 1A [RCV003517459]|not provided [RCV003145846] Chr2:237394934 [GRCh38]
Chr2:238303577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9201A>C (p.Arg3067Ser) single nucleotide variant not provided [RCV003145812] Chr2:237334654 [GRCh38]
Chr2:238243297 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.70C>T (p.His24Tyr) single nucleotide variant not provided [RCV003145847] Chr2:237396748 [GRCh38]
Chr2:238305391 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys) single nucleotide variant Bethlem myopathy 1A [RCV003778855]|not provided [RCV003145813] Chr2:237341018 [GRCh38]
Chr2:238249661 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4175G>A (p.Ser1392Asn) single nucleotide variant not provided [RCV003145848] Chr2:237371842 [GRCh38]
Chr2:238280485 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.264T>A (p.His88Gln) single nucleotide variant not provided [RCV003145849] Chr2:237395032 [GRCh38]
Chr2:238303675 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9457G>A (p.Gly3153Arg) single nucleotide variant not provided [RCV003145823] Chr2:237325596 [GRCh38]
Chr2:238234239 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV003225627] Chr2:237368931 [GRCh38]
Chr2:238277574 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7192G>C (p.Val2398Leu) single nucleotide variant not provided [RCV003228347] Chr2:237344826 [GRCh38]
Chr2:238253469 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3790G>C (p.Val1264Leu) single nucleotide variant not provided [RCV003145799] Chr2:237372227 [GRCh38]
Chr2:238280870 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2476G>A (p.Glu826Lys) single nucleotide variant Inborn genetic diseases [RCV003164858]|not provided [RCV003145814] Chr2:237378657 [GRCh38]
Chr2:238287300 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4222A>G (p.Ile1408Val) single nucleotide variant not provided [RCV003145830] Chr2:237371795 [GRCh38]
Chr2:238280438 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser) single nucleotide variant Bethlem myopathy 1A [RCV003517456]|not provided [RCV003145807] Chr2:237357825 [GRCh38]
Chr2:238266468 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8014_8016dup (p.Ser2672_Glu2673insSer) duplication not provided [RCV003145815] Chr2:237340899..237340900 [GRCh38]
Chr2:238249542..238249543 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7300A>G (p.Ile2434Val) single nucleotide variant not provided [RCV003145816] Chr2:237344718 [GRCh38]
Chr2:238253361 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8519A>C (p.Gln2840Pro) single nucleotide variant Inborn genetic diseases [RCV003384363]|not provided [RCV003145828] Chr2:237339063 [GRCh38]
Chr2:238247706 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7924A>G (p.Ile2642Val) single nucleotide variant not provided [RCV003145831] Chr2:237340992 [GRCh38]
Chr2:238249635 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6070A>G (p.Ile2024Val) single nucleotide variant not provided [RCV003145841] Chr2:237361825 [GRCh38]
Chr2:238270468 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2629G>A (p.Val877Met) single nucleotide variant Inborn genetic diseases [RCV003208358] Chr2:237377213 [GRCh38]
Chr2:238285856 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6581C>A (p.Thr2194Asn) single nucleotide variant not provided [RCV003223074] Chr2:237357348 [GRCh38]
Chr2:238265991 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2120G>A (p.Arg707Lys) single nucleotide variant not provided [RCV003145801] Chr2:237379013 [GRCh38]
Chr2:238287656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.58T>A (p.Phe20Ile) single nucleotide variant not provided [RCV003145821] Chr2:237396760 [GRCh38]
Chr2:238305403 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.194T>C (p.Val65Ala) single nucleotide variant not provided [RCV003145822] Chr2:237395102 [GRCh38]
Chr2:238303745 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6245A>C (p.Gln2082Pro) single nucleotide variant not provided [RCV003145818] Chr2:237360125 [GRCh38]
Chr2:238268768 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5137G>A (p.Gly1713Arg) single nucleotide variant not provided [RCV003145854] Chr2:237367050 [GRCh38]
Chr2:238275693 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2462G>A (p.Ser821Asn) single nucleotide variant not provided [RCV003145838] Chr2:237378671 [GRCh38]
Chr2:238287314 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4577A>T (p.Asn1526Ile) single nucleotide variant not provided [RCV003145806] Chr2:237368886 [GRCh38]
Chr2:238277529 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys) single nucleotide variant Bethlem myopathy 1A [RCV003517458]|not provided [RCV003145840] Chr2:237361819 [GRCh38]
Chr2:238270462 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6703C>T (p.Pro2235Ser) single nucleotide variant not provided [RCV003145845] Chr2:237352572 [GRCh38]
Chr2:238261215 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5829C>G (p.Asp1943Glu) single nucleotide variant Inborn genetic diseases [RCV004246126]|not provided [RCV003145853] Chr2:237365707 [GRCh38]
Chr2:238274350 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6124G>C (p.Asp2042His) single nucleotide variant Inborn genetic diseases [RCV003214233] Chr2:237361771 [GRCh38]
Chr2:238270414 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2322T>A (p.Phe774Leu) single nucleotide variant not provided [RCV003145820] Chr2:237378811 [GRCh38]
Chr2:238287454 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1694T>C (p.Ile565Thr) single nucleotide variant not provided [RCV003145825] Chr2:237381118 [GRCh38]
Chr2:238289761 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5809T>G (p.Phe1937Val) single nucleotide variant not provided [RCV003145791] Chr2:237365727 [GRCh38]
Chr2:238274370 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1687G>T (p.Asp563Tyr) single nucleotide variant not provided [RCV003145842] Chr2:237381125 [GRCh38]
Chr2:238289768 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2612A>C (p.Glu871Ala) single nucleotide variant not provided [RCV003143309] Chr2:237377230 [GRCh38]
Chr2:238285873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3171C>A (p.Ser1057Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631295]|not provided [RCV003143310] Chr2:237374920 [GRCh38]
Chr2:238283563 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.4162G>A (p.Val1388Met) single nucleotide variant not provided [RCV003143316] Chr2:237371855 [GRCh38]
Chr2:238280498 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3579G>T (p.Gln1193His) single nucleotide variant not provided [RCV003143317] Chr2:237374512 [GRCh38]
Chr2:238283155 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2095A>G (p.Lys699Glu) single nucleotide variant not provided [RCV003143319] Chr2:237379038 [GRCh38]
Chr2:238287681 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3824A>G (p.Gln1275Arg) single nucleotide variant not provided [RCV003143321] Chr2:237372193 [GRCh38]
Chr2:238280836 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.212T>C (p.Val71Ala) single nucleotide variant not provided [RCV003143322] Chr2:237395084 [GRCh38]
Chr2:238303727 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2011A>G (p.Ile671Val) single nucleotide variant not provided [RCV003143323] Chr2:237379122 [GRCh38]
Chr2:238287765 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1510A>G (p.Thr504Ala) single nucleotide variant not provided [RCV003143324] Chr2:237381302 [GRCh38]
Chr2:238289945 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3250T>C (p.Ser1084Pro) single nucleotide variant not provided [RCV003143325] Chr2:237374841 [GRCh38]
Chr2:238283484 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.892A>G (p.Thr298Ala) single nucleotide variant not provided [RCV003143327] Chr2:237388002 [GRCh38]
Chr2:238296645 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1886G>A (p.Gly629Glu) single nucleotide variant Bethlem myopathy 1A [RCV003779676]|Inborn genetic diseases [RCV003181328] Chr2:237380926 [GRCh38]
Chr2:238289569 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn) single nucleotide variant Bethlem myopathy 1A [RCV003778857]|not provided [RCV003145837] Chr2:237344708 [GRCh38]
Chr2:238253351 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3478G>T (p.Ala1160Ser) single nucleotide variant not provided [RCV003145798] Chr2:237374613 [GRCh38]
Chr2:238283256 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3473del (p.Gly1158fs) deletion not provided [RCV003143734] Chr2:237374618 [GRCh38]
Chr2:238283261 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6537+1G>A single nucleotide variant not provided [RCV003143740] Chr2:237357816 [GRCh38]
Chr2:238266459 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.3737C>T (p.Pro1246Leu) single nucleotide variant not provided [RCV003145832] Chr2:237372280 [GRCh38]
Chr2:238280923 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8549A>G (p.Lys2850Arg) single nucleotide variant not provided [RCV003145800] Chr2:237339033 [GRCh38]
Chr2:238247676 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6053C>A (p.Ala2018Glu) single nucleotide variant not provided [RCV003145803] Chr2:237363263 [GRCh38]
Chr2:238271906 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3429G>T (p.Arg1143Ser) single nucleotide variant not provided [RCV003145844] Chr2:237374662 [GRCh38]
Chr2:238283305 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7430A>G (p.Gln2477Arg) single nucleotide variant not provided [RCV003145811] Chr2:237344588 [GRCh38]
Chr2:238253231 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1834C>G (p.Pro612Ala) single nucleotide variant not provided [RCV003145843] Chr2:237380978 [GRCh38]
Chr2:238289621 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9152G>C (p.Gly3051Ala) single nucleotide variant not provided [RCV003145810] Chr2:237334703 [GRCh38]
Chr2:238243346 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9175del (p.Val3059fs) deletion Ullrich congenital muscular dystrophy 1A [RCV003147874] Chr2:237334680 [GRCh38]
Chr2:238243323 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6460C>T (p.Arg2154Ter) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV003147953] Chr2:237358532 [GRCh38]
Chr2:238267175 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys) single nucleotide variant Bethlem myopathy 1A [RCV003517457]|not provided [RCV003145817] Chr2:237340720 [GRCh38]
Chr2:238249363 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5041G>C (p.Val1681Leu) single nucleotide variant not provided [RCV003145829] Chr2:237367146 [GRCh38]
Chr2:238275789 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu) single nucleotide variant Bethlem myopathy 1A [RCV003778856]|not provided [RCV003145834] Chr2:237341065 [GRCh38]
Chr2:238249708 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9332T>C (p.Ile3111Thr) single nucleotide variant not provided [RCV003145850] Chr2:237325721 [GRCh38]
Chr2:238234364 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7927G>T (p.Ala2643Ser) single nucleotide variant COL6A3-related disorder [RCV004554048]|not provided [RCV003145851] Chr2:237340989 [GRCh38]
Chr2:238249632 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg) single nucleotide variant Bethlem myopathy 1A [RCV003779713]|Inborn genetic diseases [RCV003205497] Chr2:237371764 [GRCh38]
Chr2:238280407 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1839G>T (p.Leu613Phe) single nucleotide variant not provided [RCV003145795] Chr2:237380973 [GRCh38]
Chr2:238289616 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1148C>G (p.Ala383Gly) single nucleotide variant not provided [RCV003145802] Chr2:237387746 [GRCh38]
Chr2:238296389 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.787G>C (p.Asp263His) single nucleotide variant Inborn genetic diseases [RCV004614409]|not provided [RCV003145797] Chr2:237388107 [GRCh38]
Chr2:238296750 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1555G>C (p.Asp519His) single nucleotide variant not provided [RCV003145808] Chr2:237381257 [GRCh38]
Chr2:238289900 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.128T>C (p.Leu43Pro) single nucleotide variant not provided [RCV003145826] Chr2:237395168 [GRCh38]
Chr2:238303811 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2848G>A (p.Gly950Arg) single nucleotide variant not provided [RCV003145833] Chr2:237376994 [GRCh38]
Chr2:238285637 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5569G>A (p.Gly1857Ser) single nucleotide variant not provided [RCV003145805] Chr2:237365967 [GRCh38]
Chr2:238274610 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8327G>A (p.Arg2776Lys) single nucleotide variant not provided [RCV003227289] Chr2:237340589 [GRCh38]
Chr2:238249232 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4091T>C (p.Val1364Ala) single nucleotide variant not provided [RCV003330018] Chr2:237371926 [GRCh38]
Chr2:238280569 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp) single nucleotide variant Bethlem myopathy 1A [RCV003325928] Chr2:237325576 [GRCh38]
Chr2:238234219 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp) single nucleotide variant Bethlem myopathy 1A [RCV003631310]|Ullrich congenital muscular dystrophy 1A [RCV003326232] Chr2:237361173 [GRCh38]
Chr2:238269816 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.5000A>G (p.Asp1667Gly) single nucleotide variant not provided [RCV003328002] Chr2:237367187 [GRCh38]
Chr2:238275830 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1444A>C (p.Ile482Leu) single nucleotide variant not provided [RCV003329880] Chr2:237381368 [GRCh38]
Chr2:238290011 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln) single nucleotide variant Bethlem myopathy 1A [RCV003333838] Chr2:237352523 [GRCh38]
Chr2:238261166 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met) single nucleotide variant Bethlem myopathy 1A [RCV003337829] Chr2:237395176 [GRCh38]
Chr2:238303819 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn) single nucleotide variant Bethlem myopathy 1A [RCV003778079]|Inborn genetic diseases [RCV003379567] Chr2:237368637 [GRCh38]
Chr2:238277280 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4732A>G (p.Ile1578Val) single nucleotide variant Inborn genetic diseases [RCV003355294] Chr2:237368731 [GRCh38]
Chr2:238277374 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6139G>A (p.Gly2047Ser) single nucleotide variant Inborn genetic diseases [RCV003381223] Chr2:237361756 [GRCh38]
Chr2:238270399 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7626C>A (p.Phe2542Leu) single nucleotide variant Inborn genetic diseases [RCV003362653] Chr2:237344392 [GRCh38]
Chr2:238253035 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp) single nucleotide variant Bethlem myopathy 1A [RCV003333834] Chr2:237381182 [GRCh38]
Chr2:238289825 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del deletion Ullrich congenital muscular dystrophy 1A [RCV003331603] Chr2:238249094..238257307 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6627+19C>T single nucleotide variant not specified [RCV003331782] Chr2:237354880 [GRCh38]
Chr2:238263523 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5281del (p.Asp1761fs) deletion COL6A3-related disorder [RCV004550569] Chr2:237366906 [GRCh38]
Chr2:238275549 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8604C>T (p.Ser2868=) single nucleotide variant not provided [RCV003440252] Chr2:237336496 [GRCh38]
Chr2:238245139 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6897C>A (p.Asp2299Glu) single nucleotide variant not provided [RCV003440254] Chr2:237348646 [GRCh38]
Chr2:238257289 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3806C>A (p.Thr1269Asn) single nucleotide variant Inborn genetic diseases [RCV003369928] Chr2:237372211 [GRCh38]
Chr2:238280854 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1979A>G (p.Asp660Gly) single nucleotide variant Inborn genetic diseases [RCV003374031] Chr2:237379154 [GRCh38]
Chr2:238287797 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu) single nucleotide variant Bethlem myopathy 1A [RCV003388252] Chr2:237361743 [GRCh38]
Chr2:238270386 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5684C>G (p.Ser1895Trp) single nucleotide variant COL6A3-related disorder [RCV004554174] Chr2:237365852 [GRCh38]
Chr2:238274495 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp) single nucleotide variant Bethlem myopathy 1A [RCV003447698] Chr2:237344697 [GRCh38]
Chr2:238253340 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
GRCh37/hg19 2q37.3(chr2:238178706-239202040)x3 copy number gain not provided [RCV003484097] Chr2:238178706..239202040 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8680A>G (p.Thr2894Ala) single nucleotide variant not provided [RCV003481689] Chr2:237336420 [GRCh38]
Chr2:238245063 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6211-17T>G single nucleotide variant Bethlem myopathy 1A [RCV003873965] Chr2:237360176 [GRCh38]
Chr2:238268819 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8665C>A (p.Pro2889Thr) single nucleotide variant not provided [RCV003490615] Chr2:237336435 [GRCh38]
Chr2:238245078 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7226C>T (p.Thr2409Ile) single nucleotide variant not provided [RCV003490617] Chr2:237344792 [GRCh38]
Chr2:238253435 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7394G>T (p.Arg2465Met) single nucleotide variant not provided [RCV003490619] Chr2:237344624 [GRCh38]
Chr2:238253267 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8579A>G (p.Asn2860Ser) single nucleotide variant not provided [RCV003490621] Chr2:237336521 [GRCh38]
Chr2:238245164 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn) single nucleotide variant Bethlem myopathy 1A [RCV003517509]|not provided [RCV003490622] Chr2:237368728 [GRCh38]
Chr2:238277371 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8723C>G (p.Ala2908Gly) single nucleotide variant not provided [RCV003490624] Chr2:237336377 [GRCh38]
Chr2:238245020 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter) single nucleotide variant Bethlem myopathy 1A [RCV003631325]|not provided [RCV003481690] Chr2:237394770 [GRCh38]
Chr2:238303413 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.1312+12C>G single nucleotide variant Bethlem myopathy 1A [RCV003872884] Chr2:237387570 [GRCh38]
Chr2:238296213 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8112G>A (p.Arg2704=) single nucleotide variant Bethlem myopathy 1A [RCV003875773] Chr2:237340804 [GRCh38]
Chr2:238249447 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6966+11C>T single nucleotide variant Bethlem myopathy 1A [RCV003873013] Chr2:237348338 [GRCh38]
Chr2:238256981 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6769G>T (p.Ala2257Ser) single nucleotide variant COL6A3-related disorder [RCV004550686] Chr2:237351177 [GRCh38]
Chr2:238259820 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_004369.4(COL6A3):c.3430T>C (p.Ser1144Pro) single nucleotide variant not provided [RCV003440258] Chr2:237374661 [GRCh38]
Chr2:238283304 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4412G>A (p.Ser1471Asn) single nucleotide variant not provided [RCV003431188] Chr2:237369051 [GRCh38]
Chr2:238277694 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8652C>T (p.Thr2884=) single nucleotide variant not provided [RCV003440251] Chr2:237336448 [GRCh38]
Chr2:238245091 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4346C>A (p.Pro1449Gln) single nucleotide variant not provided [RCV003440257] Chr2:237369117 [GRCh38]
Chr2:238277760 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_004369.4(COL6A3):c.2425C>T (p.Pro809Ser) single nucleotide variant COL6A3-related disorder [RCV004552497] Chr2:237378708 [GRCh38]
Chr2:238287351 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4010C>G (p.Pro1337Arg) single nucleotide variant not specified [RCV003404794] Chr2:237372007 [GRCh38]
Chr2:238280650 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7586C>T (p.Ala2529Val) single nucleotide variant not provided [RCV003431186] Chr2:237344432 [GRCh38]
Chr2:238253075 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7338T>C (p.Ala2446=) single nucleotide variant not provided [RCV003457325] Chr2:237344680 [GRCh38]
Chr2:238253323 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6646G>A (p.Gly2216Ser) single nucleotide variant not provided [RCV003457326] Chr2:237353385 [GRCh38]
Chr2:238262028 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5430G>A (p.Glu1810=) single nucleotide variant not provided [RCV003431187] Chr2:237366757 [GRCh38]
Chr2:238275400 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7881T>G (p.Ala2627=) single nucleotide variant not provided [RCV003440253] Chr2:237341035 [GRCh38]
Chr2:238249678 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6692G>T (p.Gly2231Val) single nucleotide variant not provided [RCV003440255] Chr2:237352583 [GRCh38]
Chr2:238261226 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5343C>A (p.Ile1781=) single nucleotide variant not provided [RCV003440256] Chr2:237366844 [GRCh38]
Chr2:238275487 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.46T>A (p.Phe16Ile) single nucleotide variant COL6A3-related disorder [RCV004550576] Chr2:237396772 [GRCh38]
Chr2:238305415 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.52T>C (p.Ser18Pro) single nucleotide variant COL6A3-related disorder [RCV004552435] Chr2:237396766 [GRCh38]
Chr2:238305409 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1868C>G (p.Pro623Arg) single nucleotide variant COL6A3-related disorder [RCV004554165] Chr2:237380944 [GRCh38]
Chr2:238289587 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.661G>T (p.Val221Leu) single nucleotide variant Bethlem myopathy 1A [RCV003517500]|COL6A3-related disorder [RCV004554169] Chr2:237394635 [GRCh38]
Chr2:238303278 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.2651T>G (p.Val884Gly) single nucleotide variant COL6A3-related disorder [RCV004550654] Chr2:237377191 [GRCh38]
Chr2:238285834 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6157-1G>A single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV003404953] Chr2:237361175 [GRCh38]
Chr2:238269818 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1334A>T (p.Asp445Val) single nucleotide variant not provided [RCV003431190] Chr2:237381478 [GRCh38]
Chr2:238290121 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3142A>G (p.Lys1048Glu) single nucleotide variant not provided [RCV003431189] Chr2:237374949 [GRCh38]
Chr2:238283592 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3494T>A (p.Ile1165Asn) single nucleotide variant not provided [RCV003443543] Chr2:237374597 [GRCh38]
Chr2:238283240 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1431C>T (p.Ile477=) single nucleotide variant not provided [RCV003440259] Chr2:237381381 [GRCh38]
Chr2:238290024 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.808G>C (p.Glu270Gln) single nucleotide variant not provided [RCV003440260] Chr2:237388086 [GRCh38]
Chr2:238296729 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.378G>A (p.Met126Ile) single nucleotide variant not provided [RCV003440261] Chr2:237394918 [GRCh38]
Chr2:238303561 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs) duplication Ullrich congenital muscular dystrophy 1A [RCV003448761] Chr2:237334807..237334808 [GRCh38]
Chr2:238243450..238243451 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV003454380] Chr2:237360132 [GRCh38]
Chr2:238268775 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8673C>A (p.Thr2891=) single nucleotide variant not provided [RCV003440250] Chr2:237336427 [GRCh38]
Chr2:238245070 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3162G>A (p.Val1054=) single nucleotide variant Bethlem myopathy 1A [RCV003632712] Chr2:237374929 [GRCh38]
Chr2:238283572 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.896A>G (p.Tyr299Cys) single nucleotide variant Bethlem myopathy 1A [RCV003632816] Chr2:237387998 [GRCh38]
Chr2:238296641 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn) single nucleotide variant Bethlem myopathy 1A [RCV003632821] Chr2:237333547 [GRCh38]
Chr2:238242190 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1548G>A (p.Lys516=) single nucleotide variant Bethlem myopathy 1A [RCV003632824] Chr2:237381264 [GRCh38]
Chr2:238289907 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003632851] Chr2:237366815 [GRCh38]
Chr2:238275458 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7162+2dup duplication Bethlem myopathy 1A [RCV003632607]|not provided [RCV004763759] Chr2:237345055..237345056 [GRCh38]
Chr2:238253698..238253699 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.3108C>T (p.Gly1036=) single nucleotide variant Bethlem myopathy 1A [RCV003831415] Chr2:237374983 [GRCh38]
Chr2:238283626 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg) single nucleotide variant Bethlem myopathy 1A [RCV003632917] Chr2:237354907 [GRCh38]
Chr2:238263550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9230-19A>G single nucleotide variant Bethlem myopathy 1A [RCV003516810] Chr2:237333567 [GRCh38]
Chr2:238242210 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6967-18T>A single nucleotide variant Bethlem myopathy 1A [RCV003517095] Chr2:237347887 [GRCh38]
Chr2:238256530 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6310-17G>A single nucleotide variant Bethlem myopathy 1A [RCV003517100] Chr2:237359267 [GRCh38]
Chr2:238267910 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe) single nucleotide variant Bethlem myopathy 1A [RCV003632526] Chr2:237377267 [GRCh38]
Chr2:238285910 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile) single nucleotide variant Bethlem myopathy 1A [RCV003632504] Chr2:237340920 [GRCh38]
Chr2:238249563 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9000A>G (p.Ile3000Met) single nucleotide variant Bethlem myopathy 1A [RCV003517721] Chr2:237334855 [GRCh38]
Chr2:238243498 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.7126-12T>C single nucleotide variant Bethlem myopathy 1A [RCV003881424] Chr2:237345106 [GRCh38]
Chr2:238253749 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4019T>C (p.Leu1340Pro) single nucleotide variant not provided [RCV003490620] Chr2:237371998 [GRCh38]
Chr2:238280641 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3495T>A (p.Ile1165=) single nucleotide variant Bethlem myopathy 1A [RCV003517790] Chr2:237374596 [GRCh38]
Chr2:238283239 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile) single nucleotide variant Bethlem myopathy 1A [RCV003517948] Chr2:237379149 [GRCh38]
Chr2:238287792 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro) single nucleotide variant Bethlem myopathy 1A [RCV003518186] Chr2:237381244 [GRCh38]
Chr2:238289887 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.610A>T (p.Thr204Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631336] Chr2:237394686 [GRCh38]
Chr2:238303329 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8571T>C (p.Asn2857=) single nucleotide variant Bethlem myopathy 1A [RCV003631359] Chr2:237336529 [GRCh38]
Chr2:238245172 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6538-12T>C single nucleotide variant Bethlem myopathy 1A [RCV003849139] Chr2:237357403 [GRCh38]
Chr2:238266046 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6471+17T>C single nucleotide variant Bethlem myopathy 1A [RCV003518554] Chr2:237358504 [GRCh38]
Chr2:238267147 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1209G>A (p.Pro403=) single nucleotide variant Bethlem myopathy 1A [RCV003518685] Chr2:237387685 [GRCh38]
Chr2:238296328 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser) single nucleotide variant Bethlem myopathy 1A [RCV003518361] Chr2:237325604 [GRCh38]
Chr2:238234247 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518744] Chr2:237366012 [GRCh38]
Chr2:238274655 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln) single nucleotide variant Bethlem myopathy 1A [RCV003518857] Chr2:237340659 [GRCh38]
Chr2:238249302 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6930+6dup duplication Bethlem myopathy 1A [RCV003631400] Chr2:237348606..237348607 [GRCh38]
Chr2:238257249..238257250 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631480]|not provided [RCV004696555] Chr2:237388170 [GRCh38]
Chr2:238296813 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3252A>G (p.Ser1084=) single nucleotide variant Bethlem myopathy 1A [RCV003631487] Chr2:237374839 [GRCh38]
Chr2:238283482 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631612] Chr2:237394604 [GRCh38]
Chr2:238303247 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631646] Chr2:237366804 [GRCh38]
Chr2:238275447 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5214C>T (p.Arg1738=) single nucleotide variant Bethlem myopathy 1A [RCV003631671] Chr2:237366973 [GRCh38]
Chr2:238275616 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8148C>A (p.Gly2716=) single nucleotide variant Bethlem myopathy 1A [RCV003631737] Chr2:237340768 [GRCh38]
Chr2:238249411 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5311del (p.Val1771fs) deletion Bethlem myopathy 1A [RCV003631771] Chr2:237366876 [GRCh38]
Chr2:238275519 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6807G>C (p.Leu2269=) single nucleotide variant Bethlem myopathy 1A [RCV003631801] Chr2:237351139 [GRCh38]
Chr2:238259782 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys) single nucleotide variant Bethlem myopathy 1A [RCV003631831] Chr2:237381232 [GRCh38]
Chr2:238289875 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met) single nucleotide variant Bethlem myopathy 1A [RCV003631881] Chr2:237374590 [GRCh38]
Chr2:238283233 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys) single nucleotide variant Bethlem myopathy 1A [RCV003632074] Chr2:237379067 [GRCh38]
Chr2:238287710 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn) single nucleotide variant Bethlem myopathy 1A [RCV003632138] Chr2:237366906 [GRCh38]
Chr2:238275549 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val) single nucleotide variant Bethlem myopathy 1A [RCV003632376] Chr2:237365943 [GRCh38]
Chr2:238274586 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709+13C>T single nucleotide variant Bethlem myopathy 1A [RCV003632412] Chr2:237394574 [GRCh38]
Chr2:238303217 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5501-16C>A single nucleotide variant Bethlem myopathy 1A [RCV003632671] Chr2:237366051 [GRCh38]
Chr2:238274694 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5415G>A (p.Leu1805=) single nucleotide variant Bethlem myopathy 1A [RCV003632672] Chr2:237366772 [GRCh38]
Chr2:238275415 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6210+9_6210+19del deletion Bethlem myopathy 1A [RCV003826321] Chr2:237361102..237361112 [GRCh38]
Chr2:238269745..238269755 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser) single nucleotide variant Bethlem myopathy 1A [RCV003830069] Chr2:237371904 [GRCh38]
Chr2:238280547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2226C>A (p.His742Gln) single nucleotide variant Bethlem myopathy 1A [RCV003632788] Chr2:237378907 [GRCh38]
Chr2:238287550 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.5918-11T>C single nucleotide variant Bethlem myopathy 1A [RCV003632920] Chr2:237363409 [GRCh38]
Chr2:238272052 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe) single nucleotide variant Bethlem myopathy 1A [RCV003631453] Chr2:237363372 [GRCh38]
Chr2:238272015 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631469] Chr2:237395160 [GRCh38]
Chr2:238303803 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.909C>T (p.Ala303=) single nucleotide variant Bethlem myopathy 1A [RCV003631555] Chr2:237387985 [GRCh38]
Chr2:238296628 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6472-7C>G single nucleotide variant Bethlem myopathy 1A [RCV003631557] Chr2:237357889 [GRCh38]
Chr2:238266532 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9523A>C (p.Met3175Leu) single nucleotide variant Bethlem myopathy 1A [RCV003878598] Chr2:237324785 [GRCh38]
Chr2:238233428 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9230-20del deletion Bethlem myopathy 1A [RCV003631651] Chr2:237333568 [GRCh38]
Chr2:238242211 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.626T>C (p.Ile209Thr) single nucleotide variant Bethlem myopathy 1A [RCV003631680] Chr2:237394670 [GRCh38]
Chr2:238303313 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2739C>T (p.Ala913=) single nucleotide variant Bethlem myopathy 1A [RCV003631687] Chr2:237377103 [GRCh38]
Chr2:238285746 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.386A>G (p.His129Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631730] Chr2:237394910 [GRCh38]
Chr2:238303553 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro) single nucleotide variant Bethlem myopathy 1A [RCV003631753] Chr2:237334772 [GRCh38]
Chr2:238243415 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631772] Chr2:237325719 [GRCh38]
Chr2:238234362 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6627+19C>A single nucleotide variant Bethlem myopathy 1A [RCV003831501] Chr2:237354880 [GRCh38]
Chr2:238263523 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His) single nucleotide variant Bethlem myopathy 1A [RCV003831506] Chr2:237344751 [GRCh38]
Chr2:238253394 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631798] Chr2:237351156 [GRCh38]
Chr2:238259799 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met) single nucleotide variant Bethlem myopathy 1A [RCV003631814] Chr2:237367266 [GRCh38]
Chr2:238275909 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2980C>T (p.Leu994=) single nucleotide variant Bethlem myopathy 1A [RCV003631960] Chr2:237376862 [GRCh38]
Chr2:238285505 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632020] Chr2:237336327 [GRCh38]
Chr2:238244970 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8490A>G (p.Pro2830=) single nucleotide variant Bethlem myopathy 1A [RCV003632021] Chr2:237339092 [GRCh38]
Chr2:238247735 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4767C>T (p.Asp1589=) single nucleotide variant Bethlem myopathy 1A [RCV003632035] Chr2:237368696 [GRCh38]
Chr2:238277339 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2047T>C (p.Phe683Leu) single nucleotide variant Bethlem myopathy 1A [RCV003632050] Chr2:237379086 [GRCh38]
Chr2:238287729 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003632091] Chr2:237387723 [GRCh38]
Chr2:238296366 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709+18A>C single nucleotide variant Bethlem myopathy 1A [RCV003632094] Chr2:237394569 [GRCh38]
Chr2:238303212 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg) single nucleotide variant Bethlem myopathy 1A [RCV003632145] Chr2:237367019 [GRCh38]
Chr2:238275662 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu) single nucleotide variant Bethlem myopathy 1A [RCV003632216] Chr2:237340692 [GRCh38]
Chr2:238249335 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8221C>T (p.Leu2741=) single nucleotide variant Bethlem myopathy 1A [RCV003632351] Chr2:237340695 [GRCh38]
Chr2:238249338 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6354+12T>A single nucleotide variant Bethlem myopathy 1A [RCV003632357] Chr2:237359194 [GRCh38]
Chr2:238267837 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8568-10G>T single nucleotide variant Bethlem myopathy 1A [RCV003632367] Chr2:237336542 [GRCh38]
Chr2:238245185 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn) single nucleotide variant Bethlem myopathy 1A [RCV003632399] Chr2:237367104 [GRCh38]
Chr2:238275747 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val) single nucleotide variant Bethlem myopathy 1A [RCV003632483] Chr2:237361759 [GRCh38]
Chr2:238270402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518427] Chr2:237395051 [GRCh38]
Chr2:238303694 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe) single nucleotide variant Bethlem myopathy 1A [RCV003518407] Chr2:237387981 [GRCh38]
Chr2:238296624 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6409-1G>C single nucleotide variant Bethlem myopathy 1A [RCV003518828] Chr2:237358584 [GRCh38]
Chr2:238267227 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile) single nucleotide variant Bethlem myopathy 1A [RCV003878968] Chr2:237333452 [GRCh38]
Chr2:238242095 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631386] Chr2:237341015 [GRCh38]
Chr2:238249658 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1616G>C (p.Ser539Thr) single nucleotide variant Bethlem myopathy 1A [RCV003631388] Chr2:237381196 [GRCh38]
Chr2:238289839 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631424] Chr2:237374816 [GRCh38]
Chr2:238283459 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly) single nucleotide variant Bethlem myopathy 1A [RCV003631425] Chr2:237365784 [GRCh38]
Chr2:238274427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4149G>A (p.Leu1383=) single nucleotide variant Bethlem myopathy 1A [RCV003631445] Chr2:237371868 [GRCh38]
Chr2:238280511 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His) single nucleotide variant Bethlem myopathy 1A [RCV003882701] Chr2:237371957 [GRCh38]
Chr2:238280600 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6810A>C (p.Gly2270=) single nucleotide variant Bethlem myopathy 1A [RCV003631337] Chr2:237351136 [GRCh38]
Chr2:238259779 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631348] Chr2:237336375 [GRCh38]
Chr2:238245018 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6591+7G>A single nucleotide variant Bethlem myopathy 1A [RCV003516936] Chr2:237357331 [GRCh38]
Chr2:238265974 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.709+11C>G single nucleotide variant Bethlem myopathy 1A [RCV003517016] Chr2:237394576 [GRCh38]
Chr2:238303219 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu) single nucleotide variant Bethlem myopathy 1A [RCV003517034] Chr2:237387814 [GRCh38]
Chr2:238296457 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3071-11C>T single nucleotide variant Bethlem myopathy 1A [RCV003517540] Chr2:237375031 [GRCh38]
Chr2:238283674 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9480G>A (p.Lys3160=) single nucleotide variant Bethlem myopathy 1A [RCV003517577] Chr2:237325573 [GRCh38]
Chr2:238234216 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys) single nucleotide variant Bethlem myopathy 1A [RCV003517579] Chr2:237366966 [GRCh38]
Chr2:238275609 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8667T>C (p.Pro2889=) single nucleotide variant Bethlem myopathy 1A [RCV003517584] Chr2:237336433 [GRCh38]
Chr2:238245076 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9328+3G>A single nucleotide variant Bethlem myopathy 1A [RCV003517619] Chr2:237333447 [GRCh38]
Chr2:238242090 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.816C>T (p.Leu272=) single nucleotide variant Bethlem myopathy 1A [RCV003517667] Chr2:237388078 [GRCh38]
Chr2:238296721 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7125+15T>C single nucleotide variant Bethlem myopathy 1A [RCV003517756] Chr2:237345166 [GRCh38]
Chr2:238253809 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg) single nucleotide variant Bethlem myopathy 1A [RCV003517786] Chr2:237372307 [GRCh38]
Chr2:238280950 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val) single nucleotide variant Bethlem myopathy 1A [RCV003517807] Chr2:237351170 [GRCh38]
Chr2:238259813 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly) single nucleotide variant Bethlem myopathy 1A [RCV003517879] Chr2:237359243 [GRCh38]
Chr2:238267886 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5412G>A (p.Glu1804=) single nucleotide variant Bethlem myopathy 1A [RCV003517967] Chr2:237366775 [GRCh38]
Chr2:238275418 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518103] Chr2:237379025 [GRCh38]
Chr2:238287668 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys) single nucleotide variant Bethlem myopathy 1A [RCV003518158] Chr2:237325603 [GRCh38]
Chr2:238234246 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6592-11T>C single nucleotide variant Bethlem myopathy 1A [RCV003518521] Chr2:237354945 [GRCh38]
Chr2:238263588 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7446C>T (p.Ser2482=) single nucleotide variant Bethlem myopathy 1A [RCV003518606] Chr2:237344572 [GRCh38]
Chr2:238253215 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4285+3G>A single nucleotide variant Bethlem myopathy 1A [RCV003518653] Chr2:237371729 [GRCh38]
Chr2:238280372 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6879+14G>T single nucleotide variant Bethlem myopathy 1A [RCV003518489] Chr2:237350133 [GRCh38]
Chr2:238258776 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6588G>A (p.Lys2196=) single nucleotide variant Bethlem myopathy 1A [RCV003631361] Chr2:237357341 [GRCh38]
Chr2:238265984 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3071-13G>C single nucleotide variant Bethlem myopathy 1A [RCV003631398] Chr2:237375033 [GRCh38]
Chr2:238283676 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala) single nucleotide variant Bethlem myopathy 1A [RCV003631404] Chr2:237387996 [GRCh38]
Chr2:238296639 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3132C>T (p.Phe1044=) single nucleotide variant Bethlem myopathy 1A [RCV003631443] Chr2:237374959 [GRCh38]
Chr2:238283602 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly) single nucleotide variant Bethlem myopathy 1A [RCV003631454] Chr2:237376891 [GRCh38]
Chr2:238285534 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9045C>G (p.Pro3015=) single nucleotide variant Bethlem myopathy 1A [RCV003631471] Chr2:237334810 [GRCh38]
Chr2:238243453 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9329-14T>A single nucleotide variant Bethlem myopathy 1A [RCV003631475] Chr2:237325738 [GRCh38]
Chr2:238234381 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile) single nucleotide variant Bethlem myopathy 1A [RCV003632878] Chr2:237374566 [GRCh38]
Chr2:238283209 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.231T>C (p.His77=) single nucleotide variant Bethlem myopathy 1A [RCV003632888] Chr2:237395065 [GRCh38]
Chr2:238303708 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro) single nucleotide variant Bethlem myopathy 1A [RCV003632899] Chr2:237371975 [GRCh38]
Chr2:238280618 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2835G>A (p.Val945=) single nucleotide variant Bethlem myopathy 1A [RCV003632902] Chr2:237377007 [GRCh38]
Chr2:238285650 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632906] Chr2:237340902 [GRCh38]
Chr2:238249545 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7029+19T>C single nucleotide variant Bethlem myopathy 1A [RCV003632932] Chr2:237347788 [GRCh38]
Chr2:238256431 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632936] Chr2:237395094 [GRCh38]
Chr2:238303737 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3720G>A (p.Gly1240=) single nucleotide variant Bethlem myopathy 1A [RCV003632951] Chr2:237372297 [GRCh38]
Chr2:238280940 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu) single nucleotide variant Bethlem myopathy 1A [RCV003830891] Chr2:237387909 [GRCh38]
Chr2:238296552 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631500] Chr2:237376840 [GRCh38]
Chr2:238285483 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631514] Chr2:237372144 [GRCh38]
Chr2:238280787 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003631520] Chr2:237360110 [GRCh38]
Chr2:238268753 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5691G>A (p.Pro1897=) single nucleotide variant Bethlem myopathy 1A [RCV003632961] Chr2:237365845 [GRCh38]
Chr2:238274488 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp) single nucleotide variant Bethlem myopathy 1A [RCV003631560] Chr2:237368907 [GRCh38]
Chr2:238277550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8977C>G (p.Arg2993Gly) single nucleotide variant Bethlem myopathy 1A [RCV003631569] Chr2:237334878 [GRCh38]
Chr2:238243521 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.705C>A (p.Ile235=) single nucleotide variant Bethlem myopathy 1A [RCV003830916] Chr2:237394591 [GRCh38]
Chr2:238303234 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe) single nucleotide variant Bethlem myopathy 1A [RCV003631590] Chr2:237378777 [GRCh38]
Chr2:238287420 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5500+14T>A single nucleotide variant Bethlem myopathy 1A [RCV003631595] Chr2:237366673 [GRCh38]
Chr2:238275316 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2144C>G (p.Ser715Trp) single nucleotide variant Bethlem myopathy 1A [RCV003631596] Chr2:237378989 [GRCh38]
Chr2:238287632 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met) single nucleotide variant Bethlem myopathy 1A [RCV003631613] Chr2:237361776 [GRCh38]
Chr2:238270419 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3312G>A (p.Pro1104=) single nucleotide variant Bethlem myopathy 1A [RCV003516669] Chr2:237374779 [GRCh38]
Chr2:238283422 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8966-3C>T single nucleotide variant Bethlem myopathy 1A [RCV003516850] Chr2:237334892 [GRCh38]
Chr2:238243535 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys) single nucleotide variant Bethlem myopathy 1A [RCV003516946] Chr2:237365784 [GRCh38]
Chr2:238274427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1665G>T (p.Leu555=) single nucleotide variant Bethlem myopathy 1A [RCV003517099] Chr2:237381147 [GRCh38]
Chr2:238289790 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg) single nucleotide variant Bethlem myopathy 1A [RCV003631622] Chr2:237379232 [GRCh38]
Chr2:238287875 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631638] Chr2:237377234 [GRCh38]
Chr2:238285877 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp) single nucleotide variant Bethlem myopathy 1A [RCV003631647] Chr2:237374944 [GRCh38]
Chr2:238283587 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631649] Chr2:237334637 [GRCh38]
Chr2:238243280 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.595A>C (p.Asn199His) single nucleotide variant Bethlem myopathy 1A [RCV003631679] Chr2:237394701 [GRCh38]
Chr2:238303344 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr) single nucleotide variant Bethlem myopathy 1A [RCV003631685] Chr2:237381305 [GRCh38]
Chr2:238289948 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys) single nucleotide variant Bethlem myopathy 1A [RCV003631688] Chr2:237395152 [GRCh38]
Chr2:238303795 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val) single nucleotide variant Bethlem myopathy 1A [RCV003517595] Chr2:237368638 [GRCh38]
Chr2:238277281 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.462G>T (p.Ser154=) single nucleotide variant Bethlem myopathy 1A [RCV003517670] Chr2:237394834 [GRCh38]
Chr2:238303477 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr) single nucleotide variant Bethlem myopathy 1A [RCV003517704] Chr2:237366881 [GRCh38]
Chr2:238275524 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8955T>C (p.Thr2985=) single nucleotide variant Bethlem myopathy 1A [RCV003517737] Chr2:237336145 [GRCh38]
Chr2:238244788 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2227G>A (p.Val743Met) single nucleotide variant Bethlem myopathy 1A [RCV003517743]|not specified [RCV004701761] Chr2:237378906 [GRCh38]
Chr2:238287549 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp) single nucleotide variant Bethlem myopathy 1A [RCV003631716]|Dystonia 27 [RCV004765931] Chr2:237360122 [GRCh38]
Chr2:238268765 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr) single nucleotide variant Bethlem myopathy 1A [RCV003631722] Chr2:237374763 [GRCh38]
Chr2:238283406 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4668G>A (p.Val1556=) single nucleotide variant Bethlem myopathy 1A [RCV003631728] Chr2:237368795 [GRCh38]
Chr2:238277438 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631743] Chr2:237325662 [GRCh38]
Chr2:238234305 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys) insertion Bethlem myopathy 1A [RCV003631746] Chr2:237336171..237336172 [GRCh38]
Chr2:238244814..238244815 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4286-2A>C single nucleotide variant Bethlem myopathy 1A [RCV003631786] Chr2:237369179 [GRCh38]
Chr2:238277822 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.1021C>T (p.Arg341Cys) single nucleotide variant Bethlem myopathy 1A [RCV003517802] Chr2:237387873 [GRCh38]
Chr2:238296516 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg) single nucleotide variant Bethlem myopathy 1A [RCV003517920] Chr2:237377157 [GRCh38]
Chr2:238285800 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro) single nucleotide variant Bethlem myopathy 1A [RCV003517983] Chr2:237344691 [GRCh38]
Chr2:238253334 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg) single nucleotide variant Bethlem myopathy 1A [RCV003517987] Chr2:237387669 [GRCh38]
Chr2:238296312 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val) single nucleotide variant Bethlem myopathy 1A [RCV003631790] Chr2:237387930 [GRCh38]
Chr2:238296573 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631811] Chr2:237369016 [GRCh38]
Chr2:238277659 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser) single nucleotide variant Bethlem myopathy 1A [RCV003631813] Chr2:237333531 [GRCh38]
Chr2:238242174 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8576C>T (p.Pro2859Leu) single nucleotide variant Bethlem myopathy 1A [RCV003631828] Chr2:237336524 [GRCh38]
Chr2:238245167 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6666A>G (p.Gly2222=) single nucleotide variant Bethlem myopathy 1A [RCV003631845] Chr2:237353365 [GRCh38]
Chr2:238262008 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2497+4_2497+9del deletion Bethlem myopathy 1A [RCV003631860] Chr2:237378627..237378632 [GRCh38]
Chr2:238287270..238287275 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2497+3A>T single nucleotide variant Bethlem myopathy 1A [RCV003631861] Chr2:237378633 [GRCh38]
Chr2:238287276 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2826G>A (p.Gln942=) single nucleotide variant Bethlem myopathy 1A [RCV003882056] Chr2:237377016 [GRCh38]
Chr2:238285659 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln) single nucleotide variant Bethlem myopathy 1A [RCV003518084] Chr2:237339082 [GRCh38]
Chr2:238247725 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala) single nucleotide variant Bethlem myopathy 1A [RCV003518109] Chr2:237368895 [GRCh38]
Chr2:238277538 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met) single nucleotide variant Bethlem myopathy 1A [RCV003518193] Chr2:237374680 [GRCh38]
Chr2:238283323 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7030-20G>A single nucleotide variant Bethlem myopathy 1A [RCV003518204] Chr2:237346585 [GRCh38]
Chr2:238255228 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3963G>A (p.Arg1321=) single nucleotide variant Bethlem myopathy 1A [RCV003518220] Chr2:237372054 [GRCh38]
Chr2:238280697 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu) single nucleotide variant Bethlem myopathy 1A [RCV003518222] Chr2:237396765 [GRCh38]
Chr2:238305408 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8676C>T (p.Thr2892=) single nucleotide variant Bethlem myopathy 1A [RCV003518226] Chr2:237336424 [GRCh38]
Chr2:238245067 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.821T>C (p.Ile274Thr) single nucleotide variant Bethlem myopathy 1A [RCV003518323] Chr2:237388073 [GRCh38]
Chr2:238296716 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3666T>C (p.Pro1222=) single nucleotide variant Bethlem myopathy 1A [RCV003830970] Chr2:237374425 [GRCh38]
Chr2:238283068 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn) single nucleotide variant Bethlem myopathy 1A [RCV003631942] Chr2:237339103 [GRCh38]
Chr2:238247746 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8567+20G>A single nucleotide variant Bethlem myopathy 1A [RCV003631981] Chr2:237338995 [GRCh38]
Chr2:238247638 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp) single nucleotide variant Bethlem myopathy 1A [RCV003631991] Chr2:237372249 [GRCh38]
Chr2:238280892 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile) single nucleotide variant Bethlem myopathy 1A [RCV003631997] Chr2:237379144 [GRCh38]
Chr2:238287787 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs) deletion Bethlem myopathy 1A [RCV003632012] Chr2:237388099..237388102 [GRCh38]
Chr2:238296742..238296745 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.8568-12T>A single nucleotide variant Bethlem myopathy 1A [RCV003518569] Chr2:237336544 [GRCh38]
Chr2:238245187 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser) single nucleotide variant Bethlem myopathy 1A [RCV003518640]|COL6A3-related disorder [RCV004738754] Chr2:237368860 [GRCh38]
Chr2:238277503 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7029+13_7029+44del deletion Bethlem myopathy 1A [RCV003518449] Chr2:237347763..237347794 [GRCh38]
Chr2:238256406..238256437 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632047] Chr2:237344429 [GRCh38]
Chr2:238253072 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.575C>G (p.Pro192Arg) single nucleotide variant Bethlem myopathy 1A [RCV003632090] Chr2:237394721 [GRCh38]
Chr2:238303364 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser) single nucleotide variant Bethlem myopathy 1A [RCV003518566] Chr2:237365847 [GRCh38]
Chr2:238274490 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9127C>T (p.Arg3043Cys) single nucleotide variant Bethlem myopathy 1A [RCV003632140] Chr2:237334728 [GRCh38]
Chr2:238243371 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr) single nucleotide variant Bethlem myopathy 1A [RCV003632164] Chr2:237394638 [GRCh38]
Chr2:238303281 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu) single nucleotide variant Bethlem myopathy 1A [RCV003632166] Chr2:237368626 [GRCh38]
Chr2:238277269 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys) single nucleotide variant Bethlem myopathy 1A [RCV003632205] Chr2:237377065 [GRCh38]
Chr2:238285708 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter) single nucleotide variant Bethlem myopathy 1A [RCV003632206] Chr2:237395079 [GRCh38]
Chr2:238303722 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser) single nucleotide variant Bethlem myopathy 1A [RCV003632208] Chr2:237366693 [GRCh38]
Chr2:238275336 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr) single nucleotide variant Bethlem myopathy 1A [RCV003632209] Chr2:237388142 [GRCh38]
Chr2:238296785 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6538-20G>C single nucleotide variant Bethlem myopathy 1A [RCV003632229] Chr2:237357411 [GRCh38]
Chr2:238266054 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7960G>A (p.Asp2654Asn) single nucleotide variant Bethlem myopathy 1A [RCV003632236] Chr2:237340956 [GRCh38]
Chr2:238249599 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6966+18G>A single nucleotide variant Bethlem myopathy 1A [RCV003632268] Chr2:237348331 [GRCh38]
Chr2:238256974 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+10G>A single nucleotide variant Bethlem myopathy 1A [RCV003632275] Chr2:237374402 [GRCh38]
Chr2:238283045 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln) single nucleotide variant Bethlem myopathy 1A [RCV003632289] Chr2:237366918 [GRCh38]
Chr2:238275561 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys) single nucleotide variant Bethlem myopathy 1A [RCV003632312] Chr2:237366759 [GRCh38]
Chr2:238275402 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile) single nucleotide variant Bethlem myopathy 1A [RCV003632315] Chr2:237381208 [GRCh38]
Chr2:238289851 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6409-13G>A single nucleotide variant Bethlem myopathy 1A [RCV003632338] Chr2:237358596 [GRCh38]
Chr2:238267239 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4314C>T (p.Val1438=) single nucleotide variant Bethlem myopathy 1A [RCV003632349] Chr2:237369149 [GRCh38]
Chr2:238277792 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4929G>C (p.Leu1643=) single nucleotide variant Bethlem myopathy 1A [RCV003516640] Chr2:237367258 [GRCh38]
Chr2:238275901 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1227G>A (p.Gly409=) single nucleotide variant Bethlem myopathy 1A [RCV003516683] Chr2:237387667 [GRCh38]
Chr2:238296310 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val) single nucleotide variant Bethlem myopathy 1A [RCV003516734] Chr2:237334718 [GRCh38]
Chr2:238243361 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1455A>T (p.Ala485=) single nucleotide variant Bethlem myopathy 1A [RCV003632360] Chr2:237381357 [GRCh38]
Chr2:238290000 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6690+11C>T single nucleotide variant Bethlem myopathy 1A [RCV003632370] Chr2:237353330 [GRCh38]
Chr2:238261973 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4113G>A (p.Arg1371=) single nucleotide variant Bethlem myopathy 1A [RCV003632381] Chr2:237371904 [GRCh38]
Chr2:238280547 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4476C>G (p.Thr1492=) single nucleotide variant Bethlem myopathy 1A [RCV003632390] Chr2:237368987 [GRCh38]
Chr2:238277630 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632393] Chr2:237368934 [GRCh38]
Chr2:238277577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632406] Chr2:237363395 [GRCh38]
Chr2:238272038 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6472-15C>T single nucleotide variant Bethlem myopathy 1A [RCV003632408] Chr2:237357897 [GRCh38]
Chr2:238266540 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1323C>T (p.Val441=) single nucleotide variant Bethlem myopathy 1A [RCV003826557] Chr2:237381489 [GRCh38]
Chr2:238290132 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1293G>T (p.Pro431=) single nucleotide variant Bethlem myopathy 1A [RCV003517569] Chr2:237387601 [GRCh38]
Chr2:238296244 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2193C>T (p.Phe731=) single nucleotide variant Bethlem myopathy 1A [RCV003517599] Chr2:237378940 [GRCh38]
Chr2:238287583 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1103C>T (p.Ala368Val) single nucleotide variant Bethlem myopathy 1A [RCV003632423] Chr2:237387791 [GRCh38]
Chr2:238296434 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys) single nucleotide variant Bethlem myopathy 1A [RCV003632446] Chr2:237341034 [GRCh38]
Chr2:238249677 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val) single nucleotide variant Bethlem myopathy 1A [RCV003632461] Chr2:237374793 [GRCh38]
Chr2:238283436 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.118A>G (p.Ile40Val) single nucleotide variant Bethlem myopathy 1A [RCV003632474] Chr2:237395178 [GRCh38]
Chr2:238303821 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003826651] Chr2:237377198 [GRCh38]
Chr2:238285841 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632484] Chr2:237367185 [GRCh38]
Chr2:238275828 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5550T>C (p.Asn1850=) single nucleotide variant Bethlem myopathy 1A [RCV003632485] Chr2:237365986 [GRCh38]
Chr2:238274629 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val) single nucleotide variant Bethlem myopathy 1A [RCV003632617]|not provided [RCV004765964] Chr2:237367229 [GRCh38]
Chr2:238275872 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met) single nucleotide variant Bethlem myopathy 1A [RCV003632648]|Inborn genetic diseases [RCV004374163] Chr2:237340893 [GRCh38]
Chr2:238249536 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_004369.4(COL6A3):c.6691-10C>T single nucleotide variant Bethlem myopathy 1A [RCV003632687] Chr2:237352594 [GRCh38]
Chr2:238261237 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=) single nucleotide variant Bethlem myopathy 1A [RCV003632702] Chr2:237374650 [GRCh38]
Chr2:238283293 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5839-9T>G single nucleotide variant Bethlem myopathy 1A [RCV003632711] Chr2:237364437 [GRCh38]
Chr2:238273080 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8088G>A (p.Glu2696=) single nucleotide variant Bethlem myopathy 1A [RCV003632730] Chr2:237340828 [GRCh38]
Chr2:238249471 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val) single nucleotide variant Bethlem myopathy 1A [RCV003632752] Chr2:237374612 [GRCh38]
Chr2:238283255 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser) single nucleotide variant Bethlem myopathy 1A [RCV003632762] Chr2:237344729 [GRCh38]
Chr2:238253372 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5004A>C (p.Thr1668=) single nucleotide variant Bethlem myopathy 1A [RCV003632814] Chr2:237367183 [GRCh38]
Chr2:238275826 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5501-7T>G single nucleotide variant Bethlem myopathy 1A [RCV003632836] Chr2:237366042 [GRCh38]
Chr2:238274685 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe) single nucleotide variant Bethlem myopathy 1A [RCV003632842] Chr2:237344613 [GRCh38]
Chr2:238253256 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His) single nucleotide variant Bethlem myopathy 1A [RCV003632846] Chr2:237347829 [GRCh38]
Chr2:238256472 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.709+18A>G single nucleotide variant Bethlem myopathy 1A [RCV003632857] Chr2:237394569 [GRCh38]
Chr2:238303212 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile) single nucleotide variant Bethlem myopathy 1A [RCV003632590] Chr2:237374777 [GRCh38]
Chr2:238283420 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6879+16G>T single nucleotide variant Bethlem myopathy 1A [RCV003632582] Chr2:237350131 [GRCh38]
Chr2:238258774 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.22C>G (p.Pro8Ala) single nucleotide variant Bethlem myopathy 1A [RCV003632507] Chr2:237396796 [GRCh38]
Chr2:238305439 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn) single nucleotide variant Bethlem myopathy 1A [RCV003632502]|COL6A3-related disorder [RCV004723439] Chr2:237364386 [GRCh38]
Chr2:238273029 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4647T>A (p.Gly1549=) single nucleotide variant Bethlem myopathy 1A [RCV003516644]|COL6A3-related disorder [RCV004554261] Chr2:237368816 [GRCh38]
Chr2:238277459 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs) duplication Bethlem myopathy 1A [RCV003516699] Chr2:237340485..237340486 [GRCh38]
Chr2:238249128..238249129 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.12:g.237345214del deletion Bethlem myopathy 1A [RCV003516804] Chr2:237345212 [GRCh38]
Chr2:238253855 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly) single nucleotide variant Bethlem myopathy 1A [RCV003517085] Chr2:237345087 [GRCh38]
Chr2:238253730 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile) single nucleotide variant Bethlem myopathy 1A [RCV003517559] Chr2:237325652 [GRCh38]
Chr2:238234295 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.687G>A (p.Thr229=) single nucleotide variant Bethlem myopathy 1A [RCV003879102] Chr2:237394609 [GRCh38]
Chr2:238303252 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6754-18C>G single nucleotide variant Bethlem myopathy 1A [RCV003516880] Chr2:237351210 [GRCh38]
Chr2:238259853 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9481del (p.Val3161fs) deletion Bethlem myopathy 1A [RCV003516898] Chr2:237325572 [GRCh38]
Chr2:238234215 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2289C>T (p.Ala763=) single nucleotide variant Bethlem myopathy 1A [RCV003517669] Chr2:237378844 [GRCh38]
Chr2:238287487 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1312+19C>G single nucleotide variant Bethlem myopathy 1A [RCV003517712] Chr2:237387563 [GRCh38]
Chr2:238296206 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg) single nucleotide variant Bethlem myopathy 1A [RCV003517762] Chr2:237374616 [GRCh38]
Chr2:238283259 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val) single nucleotide variant Bethlem myopathy 1A [RCV003517800] Chr2:237378665 [GRCh38]
Chr2:238287308 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly) single nucleotide variant Bethlem myopathy 1A [RCV003517842] Chr2:237388056 [GRCh38]
Chr2:238296699 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly) single nucleotide variant Bethlem myopathy 1A [RCV003517902] Chr2:237351170 [GRCh38]
Chr2:238259813 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1212A>G (p.Glu404=) single nucleotide variant Bethlem myopathy 1A [RCV003517912] Chr2:237387682 [GRCh38]
Chr2:238296325 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8592A>G (p.Ser2864=) single nucleotide variant Bethlem myopathy 1A [RCV003518066] Chr2:237336508 [GRCh38]
Chr2:238245151 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr) single nucleotide variant Bethlem myopathy 1A [RCV003518108] Chr2:237341108 [GRCh38]
Chr2:238249751 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518132] Chr2:237334868 [GRCh38]
Chr2:238243511 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7584G>A (p.Glu2528=) single nucleotide variant Bethlem myopathy 1A [RCV003517562] Chr2:237344434 [GRCh38]
Chr2:238253077 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn) single nucleotide variant Bethlem myopathy 1A [RCV003825312] Chr2:237374726 [GRCh38]
Chr2:238283369 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518159] Chr2:237334772 [GRCh38]
Chr2:238243415 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6591+15G>T single nucleotide variant Bethlem myopathy 1A [RCV003518270] Chr2:237357323 [GRCh38]
Chr2:238265966 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9310T>C (p.Leu3104=) single nucleotide variant Bethlem myopathy 1A [RCV003518339] Chr2:237333468 [GRCh38]
Chr2:238242111 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val) single nucleotide variant Bethlem myopathy 1A [RCV003518501] Chr2:237334652 [GRCh38]
Chr2:238243295 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile) single nucleotide variant Bethlem myopathy 1A [RCV003517776] Chr2:237344494 [GRCh38]
Chr2:238253137 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4056G>A (p.Val1352=) single nucleotide variant Bethlem myopathy 1A [RCV003517799] Chr2:237371961 [GRCh38]
Chr2:238280604 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu) single nucleotide variant Bethlem myopathy 1A [RCV003517804] Chr2:237365730 [GRCh38]
Chr2:238274373 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8966-13A>G single nucleotide variant Bethlem myopathy 1A [RCV003518843] Chr2:237334902 [GRCh38]
Chr2:238243545 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met) single nucleotide variant Bethlem myopathy 1A [RCV003516688] Chr2:237372062 [GRCh38]
Chr2:238280705 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser) single nucleotide variant Bethlem myopathy 1A [RCV003516725] Chr2:237368886 [GRCh38]
Chr2:238277529 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6210+4dup duplication Bethlem myopathy 1A [RCV003516799] Chr2:237361116..237361117 [GRCh38]
Chr2:238269759..238269760 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3909G>A (p.Arg1303=) single nucleotide variant Bethlem myopathy 1A [RCV003516872] Chr2:237372108 [GRCh38]
Chr2:238280751 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7668+5G>C single nucleotide variant Bethlem myopathy 1A [RCV003516924] Chr2:237344345 [GRCh38]
Chr2:238252988 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9329-4A>G single nucleotide variant Bethlem myopathy 1A [RCV003517108] Chr2:237325728 [GRCh38]
Chr2:238234371 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu) single nucleotide variant Bethlem myopathy 1A [RCV003518190] Chr2:237361746 [GRCh38]
Chr2:238270389 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln) single nucleotide variant Bethlem myopathy 1A [RCV003518205] Chr2:237377221 [GRCh38]
Chr2:238285864 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg) single nucleotide variant Bethlem myopathy 1A [RCV003518214] Chr2:237396738 [GRCh38]
Chr2:238305381 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val) single nucleotide variant Bethlem myopathy 1A [RCV003518616] Chr2:237371950 [GRCh38]
Chr2:238280593 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7766-20G>A single nucleotide variant Bethlem myopathy 1A [RCV003518636] Chr2:237341170 [GRCh38]
Chr2:238249813 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4218G>A (p.Thr1406=) single nucleotide variant Bethlem myopathy 1A [RCV003518463] Chr2:237371799 [GRCh38]
Chr2:238280442 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+9G>A single nucleotide variant Bethlem myopathy 1A [RCV003518429] Chr2:237374403 [GRCh38]
Chr2:238283046 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln) single nucleotide variant Bethlem myopathy 1A [RCV003517673] Chr2:237336302 [GRCh38]
Chr2:238244945 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.669A>C (p.Pro223=) single nucleotide variant Bethlem myopathy 1A [RCV003826727] Chr2:237394627 [GRCh38]
Chr2:238303270 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs) duplication Bethlem myopathy 1A [RCV003518094] Chr2:237354907..237354908 [GRCh38]
Chr2:238263550..238263551 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser) single nucleotide variant Bethlem myopathy 1A [RCV003518356] Chr2:237379104 [GRCh38]
Chr2:238287747 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys) single nucleotide variant Bethlem myopathy 1A [RCV003518476] Chr2:237341108 [GRCh38]
Chr2:238249751 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile) single nucleotide variant Bethlem myopathy 1A [RCV003518398] Chr2:237368724 [GRCh38]
Chr2:238277367 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1593T>C (p.Phe531=) single nucleotide variant Bethlem myopathy 1A [RCV003518839] Chr2:237381219 [GRCh38]
Chr2:238289862 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr) single nucleotide variant Bethlem myopathy 1A [RCV003876838] Chr2:237394733 [GRCh38]
Chr2:238303376 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3092T>C (p.Val1031Ala) single nucleotide variant not provided [RCV003490616] Chr2:237374999 [GRCh38]
Chr2:238283642 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3307G>C (p.Gly1103Arg) single nucleotide variant not provided [RCV003490618] Chr2:237374784 [GRCh38]
Chr2:238283427 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6064-7T>G single nucleotide variant Bethlem myopathy 1A [RCV003877541] Chr2:237361838 [GRCh38]
Chr2:238270481 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2217C>A (p.Ile739=) single nucleotide variant Bethlem myopathy 1A [RCV003877749] Chr2:237378916 [GRCh38]
Chr2:238287559 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.92-19C>A single nucleotide variant Bethlem myopathy 1A [RCV003879719] Chr2:237395223 [GRCh38]
Chr2:238303866 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2751C>T (p.Gly917=) single nucleotide variant Bethlem myopathy 1A [RCV003849410] Chr2:237377091 [GRCh38]
Chr2:238285734 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7163-5del deletion Bethlem myopathy 1A [RCV003833158] Chr2:237344957 [GRCh38]
Chr2:238253600 [GRCh37]
Chr2:2q37.3		 benign
NM_004369.4(COL6A3):c.3071-6T>C single nucleotide variant Bethlem myopathy 1A [RCV003851640] Chr2:237375026 [GRCh38]
Chr2:238283669 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro) single nucleotide variant Bethlem myopathy 1A [RCV003812053] Chr2:237374982 [GRCh38]
Chr2:238283625 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile) single nucleotide variant Bethlem myopathy 1A [RCV003834460] Chr2:237348642 [GRCh38]
Chr2:238257285 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2792C>T (p.Ser931Phe) single nucleotide variant Inborn genetic diseases [RCV004437527] Chr2:237377050 [GRCh38]
Chr2:238285693 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2927A>G (p.Lys976Arg) single nucleotide variant Inborn genetic diseases [RCV004437528] Chr2:237376915 [GRCh38]
Chr2:238285558 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4312G>A (p.Val1438Ile) single nucleotide variant Inborn genetic diseases [RCV004437531] Chr2:237369151 [GRCh38]
Chr2:238277794 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5982G>T (p.Leu1994=) single nucleotide variant Bethlem myopathy 1A [RCV003854642] Chr2:237363334 [GRCh38]
Chr2:238271977 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp) single nucleotide variant Bethlem myopathy 1A [RCV003849658] Chr2:237388143 [GRCh38]
Chr2:238296786 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2276A>G (p.Tyr759Cys) single nucleotide variant Bethlem myopathy 1A [RCV003834824] Chr2:237378857 [GRCh38]
Chr2:238287500 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln) single nucleotide variant Bethlem myopathy 1A [RCV003836861] Chr2:237377237 [GRCh38]
Chr2:238285880 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His) single nucleotide variant Bethlem myopathy 1A [RCV003817194] Chr2:237377171 [GRCh38]
Chr2:238285814 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.710-6_710-5dup duplication Bethlem myopathy 1A [RCV003834424] Chr2:237388188..237388189 [GRCh38]
Chr2:238296831..238296832 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8414A>G (p.Asn2805Ser) single nucleotide variant Inborn genetic diseases [RCV004437538] Chr2:237340502 [GRCh38]
Chr2:238249145 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile) single nucleotide variant Bethlem myopathy 1A [RCV003850442] Chr2:237358576 [GRCh38]
Chr2:238267219 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282+8G>A single nucleotide variant Bethlem myopathy 1A [RCV003832691] Chr2:237360080 [GRCh38]
Chr2:238268723 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.295A>G (p.Lys99Glu) single nucleotide variant Bethlem myopathy 1A [RCV003849654] Chr2:237395001 [GRCh38]
Chr2:238303644 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003832868] Chr2:237387666 [GRCh38]
Chr2:238296309 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6754-15C>T single nucleotide variant Bethlem myopathy 1A [RCV003814809] Chr2:237351207 [GRCh38]
Chr2:238259850 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8966-19G>A single nucleotide variant Bethlem myopathy 1A [RCV003854758] Chr2:237334908 [GRCh38]
Chr2:238243551 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3679+14T>G single nucleotide variant Bethlem myopathy 1A [RCV003865942] Chr2:237374398 [GRCh38]
Chr2:238283041 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr) single nucleotide variant Bethlem myopathy 1A [RCV003859495] Chr2:237374480 [GRCh38]
Chr2:238283123 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr) single nucleotide variant Bethlem myopathy 1A [RCV003861609] Chr2:237377309 [GRCh38]
Chr2:238285952 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro) single nucleotide variant Bethlem myopathy 1A [RCV003859651] Chr2:237367109 [GRCh38]
Chr2:238275752 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly) single nucleotide variant Bethlem myopathy 1A [RCV003859367] Chr2:237374805 [GRCh38]
Chr2:238283448 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn) single nucleotide variant Bethlem myopathy 1A [RCV003865574] Chr2:237381057 [GRCh38]
Chr2:238289700 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6627+15G>A single nucleotide variant Bethlem myopathy 1A [RCV003861175] Chr2:237354884 [GRCh38]
Chr2:238263527 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.1897+16C>G single nucleotide variant Bethlem myopathy 1A [RCV003870769] Chr2:237380899 [GRCh38]
Chr2:238289542 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr) single nucleotide variant Bethlem myopathy 1A [RCV003870794] Chr2:237340760 [GRCh38]
Chr2:238249403 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3679+13C>T single nucleotide variant Bethlem myopathy 1A [RCV003866885] Chr2:237374399 [GRCh38]
Chr2:238283042 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1825C>A (p.Arg609=) single nucleotide variant Bethlem myopathy 1A [RCV003864348] Chr2:237380987 [GRCh38]
Chr2:238289630 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter) single nucleotide variant Bethlem myopathy 1A [RCV003870410] Chr2:237365955 [GRCh38]
Chr2:238274598 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.6931-19A>G single nucleotide variant Bethlem myopathy 1A [RCV003870611] Chr2:237348403 [GRCh38]
Chr2:238257046 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp) single nucleotide variant Bethlem myopathy 1A [RCV003848653] Chr2:237347814 [GRCh38]
Chr2:238256457 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.4041G>A (p.Lys1347=) single nucleotide variant Bethlem myopathy 1A [RCV003860897] Chr2:237371976 [GRCh38]
Chr2:238280619 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu) single nucleotide variant Bethlem myopathy 1A [RCV003867280] Chr2:237363320 [GRCh38]
Chr2:238271963 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4332T>C (p.Ser1444=) single nucleotide variant Bethlem myopathy 1A [RCV003863555] Chr2:237369131 [GRCh38]
Chr2:238277774 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn) single nucleotide variant Bethlem myopathy 1A [RCV003865925] Chr2:237372145 [GRCh38]
Chr2:238280788 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser) single nucleotide variant Bethlem myopathy 1A [RCV003868733] Chr2:237371758 [GRCh38]
Chr2:238280401 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3071-1G>A single nucleotide variant Bethlem myopathy 1A [RCV003858585] Chr2:237375021 [GRCh38]
Chr2:238283664 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu) single nucleotide variant Bethlem myopathy 1A [RCV003841595] Chr2:237378638 [GRCh38]
Chr2:238287281 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5788C>T (p.Leu1930=) single nucleotide variant Bethlem myopathy 1A [RCV003847376] Chr2:237365748 [GRCh38]
Chr2:238274391 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7125+12G>A single nucleotide variant Bethlem myopathy 1A [RCV003853219] Chr2:237345169 [GRCh38]
Chr2:238253812 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn) single nucleotide variant Bethlem myopathy 1A [RCV003841712] Chr2:237371752 [GRCh38]
Chr2:238280395 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly) single nucleotide variant Bethlem myopathy 1A [RCV003843166] Chr2:237379131 [GRCh38]
Chr2:238287774 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3387A>T (p.Thr1129=) single nucleotide variant Bethlem myopathy 1A [RCV003820623] Chr2:237374704 [GRCh38]
Chr2:238283347 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile) single nucleotide variant Bethlem myopathy 1A [RCV003824398] Chr2:237379049 [GRCh38]
Chr2:238287692 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn) single nucleotide variant Bethlem myopathy 1A [RCV003819003] Chr2:237366977 [GRCh38]
Chr2:238275620 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3281C>T (p.Ala1094Val) single nucleotide variant Bethlem myopathy 1C [RCV003991937] Chr2:237374810 [GRCh38]
Chr2:238283453 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5994A>C (p.Arg1998=) single nucleotide variant COL6A3-related disorder [RCV004554524] Chr2:237363322 [GRCh38]
Chr2:238271965 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6156G>A (p.Lys2052=) single nucleotide variant Collagen 6-related myopathy [RCV003985176] Chr2:237361739 [GRCh38]
Chr2:238270382 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.4936G>A (p.Gly1646Ser) single nucleotide variant Inborn genetic diseases [RCV004437532] Chr2:237367251 [GRCh38]
Chr2:238275894 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5261A>T (p.Lys1754Met) single nucleotide variant Inborn genetic diseases [RCV004437533] Chr2:237366926 [GRCh38]
Chr2:238275569 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7189C>T (p.Pro2397Ser) single nucleotide variant Inborn genetic diseases [RCV004437536] Chr2:237344829 [GRCh38]
Chr2:238253472 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8568-10G>C single nucleotide variant COL6A3-related disorder [RCV004554342] Chr2:237336542 [GRCh38]
Chr2:238245185 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5580C>T (p.Ser1860=) single nucleotide variant COL6A3-related disorder [RCV004552689] Chr2:237365956 [GRCh38]
Chr2:238274599 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3 copy number gain See cases [RCV004442768] Chr2:237577774..239670026 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV003991273] Chr2:237366917 [GRCh38]
Chr2:238275560 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3360G>A (p.Leu1120=) single nucleotide variant COL6A3-related disorder [RCV004552678] Chr2:237374731 [GRCh38]
Chr2:238283374 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.6879+29C>T single nucleotide variant COL6A3-related disorder [RCV004551008] Chr2:237350118 [GRCh38]
Chr2:238258761 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.9493+8A>T single nucleotide variant COL6A3-related disorder [RCV004554422] Chr2:237325552 [GRCh38]
Chr2:238234195 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5307G>A (p.Arg1769=) single nucleotide variant COL6A3-related disorder [RCV004554419] Chr2:237366880 [GRCh38]
Chr2:238275523 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.7163-36G>A single nucleotide variant COL6A3-related disorder [RCV004552763] Chr2:237344988 [GRCh38]
Chr2:238253631 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.5815C>G (p.Gln1939Glu) single nucleotide variant Bethlem myopathy 1C [RCV003989906] Chr2:237365721 [GRCh38]
Chr2:238274364 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2803C>T (p.Arg935Trp) single nucleotide variant Collagen 6-related myopathy [RCV003985237] Chr2:237377039 [GRCh38]
Chr2:238285682 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_004369.4(COL6A3):c.170T>C (p.Leu57Pro) single nucleotide variant not provided [RCV003887359] Chr2:237395126 [GRCh38]
Chr2:238303769 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6614C>T (p.Pro2205Leu) single nucleotide variant not provided [RCV003886663] Chr2:237354912 [GRCh38]
Chr2:238263555 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.323A>G (p.Asn108Ser) single nucleotide variant Inborn genetic diseases [RCV004437529] Chr2:237394973 [GRCh38]
Chr2:238303616 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6368T>C (p.Leu2123Ser) single nucleotide variant Inborn genetic diseases [RCV004437535] Chr2:237359075 [GRCh38]
Chr2:238267718 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8425T>A (p.Leu2809Met) single nucleotide variant Inborn genetic diseases [RCV004437539] Chr2:237340491 [GRCh38]
Chr2:238249134 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6879+34G>A single nucleotide variant COL6A3-related disorder [RCV004550873] Chr2:237350113 [GRCh38]
Chr2:238258756 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4789C>T (p.Arg1597Ter) single nucleotide variant Bethlem myopathy 1C [RCV004595715]|COL6A3-related disorder [RCV004554350] Chr2:237368674 [GRCh38]
Chr2:238277317 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_004369.4(COL6A3):c.6270G>T (p.Gln2090His) single nucleotide variant COL6A3-related disorder [RCV004554375] Chr2:237360100 [GRCh38]
Chr2:238268743 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8321T>C (p.Ile2774Thr) single nucleotide variant Inborn genetic diseases [RCV004437537] Chr2:237340595 [GRCh38]
Chr2:238249238 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1143C>T (p.Ala381=) single nucleotide variant COL6A3-related disorder [RCV004548912] Chr2:237387751 [GRCh38]
Chr2:238296394 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.1012G>A (p.Gly338Arg) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004720664] Chr2:237387882 [GRCh38]
Chr2:238296525 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8056G>T (p.Glu2686Ter) single nucleotide variant Bethlem myopathy 1C [RCV003990719] Chr2:237340860 [GRCh38]
Chr2:238249503 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_004369.4(COL6A3):c.2300C>T (p.Thr767Ile) single nucleotide variant Inborn genetic diseases [RCV004437523] Chr2:237378833 [GRCh38]
Chr2:238287476 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2529C>A (p.Asp843Glu) single nucleotide variant Inborn genetic diseases [RCV004437524] Chr2:237377313 [GRCh38]
Chr2:238285956 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2618C>T (p.Thr873Ile) single nucleotide variant Inborn genetic diseases [RCV004437525] Chr2:237377224 [GRCh38]
Chr2:238285867 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2755G>A (p.Ala919Thr) single nucleotide variant Inborn genetic diseases [RCV004437526] Chr2:237377087 [GRCh38]
Chr2:238285730 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3497G>C (p.Gly1166Ala) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004560496] Chr2:237374594 [GRCh38]
Chr2:238283237 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1946A>G (p.Asn649Ser) single nucleotide variant Inborn genetic diseases [RCV004437521] Chr2:237379187 [GRCh38]
Chr2:238287830 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1549C>A (p.Pro517Thr) single nucleotide variant Inborn genetic diseases [RCV004437520] Chr2:237381263 [GRCh38]
Chr2:238289906 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2318C>A (p.Thr773Asn) single nucleotide variant not provided [RCV004588788] Chr2:237378815 [GRCh38]
Chr2:238287458 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1 copy number loss not provided [RCV004577474] Chr2:236478472..243048854 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_004369.4(COL6A3):c.106G>A (p.Ala36Thr) single nucleotide variant Inborn genetic diseases [RCV004437518] Chr2:237395190 [GRCh38]
Chr2:238303833 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2140G>T (p.Gly714Cys) single nucleotide variant Inborn genetic diseases [RCV004437522] Chr2:237378993 [GRCh38]
Chr2:238287636 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6590A>G (p.Asn2197Ser) single nucleotide variant Inborn genetic diseases [RCV004608203] Chr2:237357339 [GRCh38]
Chr2:238265982 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3071-818G>A single nucleotide variant Muscle tissue disorder [RCV004701931] Chr2:237375838 [GRCh38]
Chr2:238284481 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.4850C>T (p.Ala1617Val) single nucleotide variant Inborn genetic diseases [RCV004608200] Chr2:237368613 [GRCh38]
Chr2:238277256 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5635G>T (p.Gly1879Cys) single nucleotide variant Inborn genetic diseases [RCV004608202] Chr2:237365901 [GRCh38]
Chr2:238274544 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.2879del (p.Ala960fs) deletion not provided [RCV004696823] Chr2:237376963 [GRCh38]
Chr2:238285606 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.7501C>T (p.Arg2501Cys) single nucleotide variant not provided [RCV004696820] Chr2:237344517 [GRCh38]
Chr2:238253160 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.7048G>T (p.Gly2350Trp) single nucleotide variant not provided [RCV004696821] Chr2:237346547 [GRCh38]
Chr2:238255190 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8540del (p.Asn2847fs) deletion Bethlem myopathy 1C [RCV004588598] Chr2:237339042 [GRCh38]
Chr2:238247685 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5504G>A (p.Cys1835Tyr) single nucleotide variant Inborn genetic diseases [RCV004608207] Chr2:237366032 [GRCh38]
Chr2:238274675 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6787C>G (p.Arg2263Gly) single nucleotide variant Inborn genetic diseases [RCV004608208] Chr2:237351159 [GRCh38]
Chr2:238259802 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8144T>C (p.Leu2715Ser) single nucleotide variant not provided [RCV004696819] Chr2:237340772 [GRCh38]
Chr2:238249415 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_237481970)_(242801596_?)del deletion Bethlem myopathy 1A [RCV004583694] Chr2:237481970..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_238233417)_(238305460_?)dup duplication Bethlem myopathy 1A [RCV004583695] Chr2:238233417..238305460 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238274642)_(238275889_?)del deletion Bethlem myopathy 1A [RCV004583696] Chr2:238274642..238275889 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238271294)_(238275426_?)del deletion Bethlem myopathy 1A [RCV004583697] Chr2:238271294..238275426 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NC_000002.11:g.(?_238267977)_(238268801_?)del deletion Bethlem myopathy 1A [RCV004583698] Chr2:238267977..238268801 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.7668+1G>A single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004702839] Chr2:237344349 [GRCh38]
Chr2:238252992 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.7187G>A (p.Cys2396Tyr) single nucleotide variant not provided [RCV004768298] Chr2:237344831 [GRCh38]
Chr2:238253474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8890G>T (p.Ala2964Ser) single nucleotide variant not provided [RCV004725868] Chr2:237336210 [GRCh38]
Chr2:238244853 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6282+2T>G single nucleotide variant not provided [RCV004721921] Chr2:237360086 [GRCh38]
Chr2:238268729 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_004369.4(COL6A3):c.5149G>A (p.Ala1717Thr) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004720691] Chr2:237367038 [GRCh38]
Chr2:238275681 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.6370C>T (p.Pro2124Ser) single nucleotide variant not provided [RCV004772147] Chr2:237359073 [GRCh38]
Chr2:238267716 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.9295G>A (p.Val3099Met) single nucleotide variant not provided [RCV004759819] Chr2:237333483 [GRCh38]
Chr2:238242126 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1162G>C (p.Glu388Gln) single nucleotide variant not provided [RCV004723877] Chr2:237387732 [GRCh38]
Chr2:238296375 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.4047C>A (p.Asp1349Glu) single nucleotide variant not provided [RCV004727340] Chr2:237371970 [GRCh38]
Chr2:238280613 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.8879C>G (p.Ala2960Gly) single nucleotide variant not provided [RCV004763902] Chr2:237336221 [GRCh38]
Chr2:238244864 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.3355A>T (p.Ile1119Phe) single nucleotide variant not provided [RCV004770808] Chr2:237374736 [GRCh38]
Chr2:238283379 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5654T>G (p.Val1885Gly) single nucleotide variant not provided [RCV004772552] Chr2:237365882 [GRCh38]
Chr2:238274525 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5512G>A (p.Asp1838Asn) single nucleotide variant COL6A3-related disorder [RCV004730110] Chr2:237366024 [GRCh38]
Chr2:238274667 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:238234151-238234418)x0 copy number loss Dystonia 27 [RCV004767728] Chr2:238234151..238234418 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_004369.4(COL6A3):c.337G>A (p.Gly113Arg) single nucleotide variant not provided [RCV004767957] Chr2:237394959 [GRCh38]
Chr2:238303602 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1301T>A (p.Ile434Asn) single nucleotide variant not provided [RCV004775685] Chr2:237387593 [GRCh38]
Chr2:238296236 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1799C>G (p.Ser600Cys) single nucleotide variant not provided [RCV004769591] Chr2:237381013 [GRCh38]
Chr2:238289656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.5243T>G (p.Phe1748Cys) single nucleotide variant Ullrich congenital muscular dystrophy 1A [RCV004764371] Chr2:237366944 [GRCh38]
Chr2:238275587 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_004369.4(COL6A3):c.1881C>T (p.Leu627=) single nucleotide variant COL6A3-related disorder [RCV004736950] Chr2:237380931 [GRCh38]
Chr2:238289574 [GRCh37]
Chr2:2q37.3		 likely benign
NM_004369.4(COL6A3):c.2218C>G (p.Arg740Gly) single nucleotide variant COL6A3-related disorder [RCV004737039] Chr2:237378915 [GRCh38]
Chr2:238287558 [GRCh37]
Chr2:2q37.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2976
Count of miRNA genes:890
Interacting mature miRNAs:1035
Transcripts:ENST00000295550, ENST00000346358, ENST00000347401, ENST00000353578, ENST00000392003, ENST00000392004, ENST00000409809, ENST00000433762, ENST00000468792, ENST00000472056, ENST00000473258, ENST00000491233, ENST00000491769, ENST00000493475, ENST00000493608
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
406941509GWAS590485_Hcollagen alpha-1(XXVIII) chain measurement QTL GWAS590485 (human)8e-19collagen alpha-1(XXVIII) chain measurement2237324109237324110Human
406982852GWAS631828_Hmyocardial infarction QTL GWAS631828 (human)1e-24myocardial infarction2237371861237371862Human
407153164GWAS802140_Hgut microbiome measurement QTL GWAS802140 (human)0.000007gut microbiome measurement2237357605237357606Human
407315725GWAS964701_Hlysophosphatidylcholine measurement QTL GWAS964701 (human)5e-08lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)2237357981237357982Human
406965194GWAS614170_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS614170 (human)0.000002severe acute respiratory syndrome, COVID-192237410343237410344Human
406927885GWAS576861_Hbody height QTL GWAS576861 (human)8e-11body height (VT:0001253)body height (CMO:0000106)2237330798237330799Human
406979727GWAS628703_Hbrain cortex volume measurement QTL GWAS628703 (human)0.000003brain cortex volume measurement2237328278237328279Human
407325782GWAS974758_Hlysophosphatidylcholine measurement QTL GWAS974758 (human)0.0000001lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)2237357981237357982Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
407404959GWAS1053935_Hcentral corneal thickness QTL GWAS1053935 (human)4e-12central corneal thickness2237356409237356410Human
407201116GWAS850092_Hcentral corneal thickness QTL GWAS850092 (human)9e-22central corneal thickness2237369499237369500Human
407207199GWAS856175_HFEV/FVC ratio QTL GWAS856175 (human)7e-20FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)2237324109237324110Human
407053784GWAS702760_Hcoronary artery disease QTL GWAS702760 (human)3e-28coronary artery disease2237371861237371862Human
407278424GWAS927400_Hbody height QTL GWAS927400 (human)3e-43body height (VT:0001253)body height (CMO:0000106)2237340987237340988Human
407278425GWAS927401_Hbody height QTL GWAS927401 (human)2e-55body height (VT:0001253)body height (CMO:0000106)2237367742237367743Human
407400552GWAS1049528_Hcorneal resistance factor QTL GWAS1049528 (human)1e-09corneal resistance factor2237334732237334733Human
407400553GWAS1049529_Hcorneal resistance factor QTL GWAS1049529 (human)9e-12corneal resistance factor2237356409237356410Human
407400554GWAS1049530_Hcorneal resistance factor QTL GWAS1049530 (human)2e-24corneal resistance factor2237364901237364902Human
406949218GWAS598194_Haging QTL GWAS598194 (human)0.000008aging2237362251237362252Human
407405349GWAS1054325_Hcorneal resistance factor QTL GWAS1054325 (human)7e-17corneal resistance factor2237356409237356410Human
406940720GWAS589696_Hcollagen alpha-3(VI) chain measurement QTL GWAS589696 (human)6e-19collagen alpha-3(VI) chain measurement2237369152237369153Human
407101042GWAS750018_Hvital capacity QTL GWAS750018 (human)2e-10vital capacity2237369499237369500Human
407061111GWAS710087_Hchronic kidney disease QTL GWAS710087 (human)0.0000003chronic kidney disease2237371861237371862Human
407319666GWAS968642_Hlysophosphatidylcholine measurement QTL GWAS968642 (human)1e-08lysophosphatidylcholine measurementblood phospholipid level (CMO:0001169)2237357981237357982Human
407061113GWAS710089_Hhypertension QTL GWAS710089 (human)0.0000004hypertension2237371861237371862Human
407044798GWAS693774_Hchronic obstructive pulmonary disease QTL GWAS693774 (human)2e-16chronic obstructive pulmonary disease2237324109237324110Human
407204152GWAS853128_Hcorneal resistance factor QTL GWAS853128 (human)1e-32corneal resistance factor2237369499237369500Human
406920318GWAS569294_HIschemic stroke QTL GWAS569294 (human)1e-08Ischemic stroke2237371861237371862Human

Markers in Region
RH18099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,232,822 - 238,232,993UniSTSGRCh37
Build 362237,897,561 - 237,897,732RGDNCBI36
Celera2231,946,592 - 231,946,763RGD
Cytogenetic Map2q37UniSTS
HuRef2230,024,855 - 230,025,026UniSTS
GeneMap99-GB4 RH Map2739.47UniSTS
COL6A3_1840  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,232,621 - 238,233,405UniSTSGRCh37
Build 362237,897,360 - 237,898,144RGDNCBI36
Celera2231,946,391 - 231,947,175RGD
HuRef2230,024,654 - 230,025,438UniSTS
WI-19458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,244,193 - 238,244,407UniSTSGRCh37
Build 362237,908,932 - 237,909,146RGDNCBI36
Celera2231,957,974 - 231,958,188RGD
Cytogenetic Map2q37UniSTS
HuRef2230,036,256 - 230,036,470UniSTS
GeneMap99-GB4 RH Map2737.67UniSTS
Whitehead-RH Map21074.0UniSTS
D10S16   No map positions available.
G38154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12UniSTS
Cytogenetic Map3q26.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1UniSTS
G44334  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2412 2788 2244 4945 1721 2327 6 621 1557 463 2266 6895 6084 52 3711 1 847 1731 1596 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_057164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_057165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_057166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_057167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL698472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL706147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL710464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ446249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU687672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN281809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC411101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM015590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295550   ⟹   ENSP00000295550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,018 - 237,414,164 (-)Ensembl
Ensembl Acc Id: ENST00000347401   ⟹   ENSP00000315609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,019 - 237,344,662 (-)Ensembl
Ensembl Acc Id: ENST00000353578   ⟹   ENSP00000315873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,304 - 237,414,172 (-)Ensembl
Ensembl Acc Id: ENST00000392003   ⟹   ENSP00000375860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,371,617 - 237,414,207 (-)Ensembl
Ensembl Acc Id: ENST00000392004   ⟹   ENSP00000375861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,371,617 - 237,414,177 (-)Ensembl
Ensembl Acc Id: ENST00000409809   ⟹   ENSP00000386844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,774 - 237,396,817 (-)Ensembl
Ensembl Acc Id: ENST00000433762   ⟹   ENSP00000389539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,377,118 - 237,414,177 (-)Ensembl
Ensembl Acc Id: ENST00000468792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,338,940 - 237,340,602 (-)Ensembl
Ensembl Acc Id: ENST00000472056   ⟹   ENSP00000418285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,085 - 237,414,148 (-)Ensembl
Ensembl Acc Id: ENST00000473258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,003 - 237,330,180 (-)Ensembl
Ensembl Acc Id: ENST00000491233   ⟹   ENSP00000460277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,386,454 - 237,388,077 (-)Ensembl
Ensembl Acc Id: ENST00000491769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,019 - 237,355,779 (-)Ensembl
Ensembl Acc Id: ENST00000493475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,356,790 - 237,357,883 (-)Ensembl
Ensembl Acc Id: ENST00000493608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,332,968 - 237,334,786 (-)Ensembl
Ensembl Acc Id: ENST00000682405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,381,296 - 237,414,327 (-)Ensembl
Ensembl Acc Id: ENST00000682957   ⟹   ENSP00000507870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,019 - 237,340,918 (-)Ensembl
Ensembl Acc Id: ENST00000683145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,410,766 - 237,414,328 (-)Ensembl
Ensembl Acc Id: ENST00000683155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,395,827 - 237,414,142 (-)Ensembl
Ensembl Acc Id: ENST00000683348   ⟹   ENSP00000508058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,324,019 - 237,334,722 (-)Ensembl
Ensembl Acc Id: ENST00000684508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,336,026 - 237,342,096 (-)Ensembl
Ensembl Acc Id: ENST00000684597   ⟹   ENSP00000508021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2237,367,103 - 237,371,847 (-)Ensembl
RefSeq Acc Id: NM_004369   ⟹   NP_004360
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,324,018 - 237,414,164 (-)NCBI
GRCh372238,232,655 - 238,322,850 (-)ENTREZGENE
GRCh372238,232,655 - 238,322,850 (-)NCBI
Build 362237,897,401 - 237,987,559 (-)NCBI Archive
HuRef2230,024,688 - 230,114,910 (-)ENTREZGENE
CHM1_12238,238,749 - 238,328,955 (-)NCBI
T2T-CHM13v2.02237,815,093 - 237,905,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_057164   ⟹   NP_476505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,371,617 - 237,414,164 (-)NCBI
GRCh372238,232,655 - 238,322,850 (-)ENTREZGENE
GRCh372238,232,655 - 238,322,850 (-)NCBI
Build 362237,897,401 - 237,987,559 (-)NCBI Archive
HuRef2230,024,688 - 230,114,910 (-)ENTREZGENE
CHM1_12238,286,365 - 238,328,955 (-)NCBI
T2T-CHM13v2.02237,862,646 - 237,905,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_057165   ⟹   NP_476506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,371,617 - 237,414,164 (-)NCBI
GRCh372238,232,655 - 238,322,850 (-)ENTREZGENE
Build 362237,897,401 - 237,987,559 (-)NCBI Archive
HuRef2230,024,688 - 230,114,910 (-)ENTREZGENE
CHM1_12238,286,365 - 238,328,955 (-)NCBI
T2T-CHM13v2.02237,862,646 - 237,905,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_057166   ⟹   NP_476507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,324,018 - 237,414,164 (-)NCBI
GRCh372238,232,655 - 238,322,850 (-)NCBI
Build 362237,897,401 - 237,987,559 (-)NCBI Archive
HuRef2230,024,688 - 230,114,910 (-)ENTREZGENE
CHM1_12238,238,749 - 238,328,955 (-)NCBI
T2T-CHM13v2.02237,815,093 - 237,905,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_057167   ⟹   NP_476508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,324,018 - 237,414,164 (-)NCBI
GRCh372238,232,655 - 238,322,850 (-)ENTREZGENE
GRCh372238,232,655 - 238,322,850 (-)NCBI
Build 362237,897,401 - 237,987,559 (-)NCBI Archive
HuRef2230,024,688 - 230,114,910 (-)ENTREZGENE
CHM1_12238,238,749 - 238,328,955 (-)NCBI
T2T-CHM13v2.02237,815,093 - 237,905,193 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_004360 (Get FASTA)   NCBI Sequence Viewer  
  NP_476505 (Get FASTA)   NCBI Sequence Viewer  
  NP_476506 (Get FASTA)   NCBI Sequence Viewer  
  NP_476507 (Get FASTA)   NCBI Sequence Viewer  
  NP_476508 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52057 (Get FASTA)   NCBI Sequence Viewer  
  AAB24261 (Get FASTA)   NCBI Sequence Viewer  
  AAH33174 (Get FASTA)   NCBI Sequence Viewer  
  AAI44596 (Get FASTA)   NCBI Sequence Viewer  
  AAI50626 (Get FASTA)   NCBI Sequence Viewer  
  AAI71790 (Get FASTA)   NCBI Sequence Viewer  
  AAY14906 (Get FASTA)   NCBI Sequence Viewer  
  AAY24135 (Get FASTA)   NCBI Sequence Viewer  
  ADL14511 (Get FASTA)   NCBI Sequence Viewer  
  ADO22347 (Get FASTA)   NCBI Sequence Viewer  
  BAD92873 (Get FASTA)   NCBI Sequence Viewer  
  BAG52467 (Get FASTA)   NCBI Sequence Viewer  
  BAG64366 (Get FASTA)   NCBI Sequence Viewer  
  BAG65607 (Get FASTA)   NCBI Sequence Viewer  
  CAA29557 (Get FASTA)   NCBI Sequence Viewer  
  CAA36267 (Get FASTA)   NCBI Sequence Viewer  
  CAE46068 (Get FASTA)   NCBI Sequence Viewer  
  CAH56139 (Get FASTA)   NCBI Sequence Viewer  
  EAW71103 (Get FASTA)   NCBI Sequence Viewer  
  EAW71104 (Get FASTA)   NCBI Sequence Viewer  
  EAW71105 (Get FASTA)   NCBI Sequence Viewer  
  EAW71106 (Get FASTA)   NCBI Sequence Viewer  
  EAW71107 (Get FASTA)   NCBI Sequence Viewer  
  EAW71108 (Get FASTA)   NCBI Sequence Viewer  
  EAW71109 (Get FASTA)   NCBI Sequence Viewer  
  EAW71110 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000295550
  ENSP00000295550.4
  ENSP00000315609.5
  ENSP00000315873
  ENSP00000315873.4
  ENSP00000375860
  ENSP00000375860.2
  ENSP00000375861
  ENSP00000375861.3
  ENSP00000389539.1
  ENSP00000418285
  ENSP00000418285.1
  ENSP00000507870.1
  ENSP00000508021.1
  ENSP00000508058.1
GenBank Protein P12111 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_476507   ⟸   NM_057166
- Peptide Label: isoform 4 precursor
- UniProtKB: B7ZW00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_476508   ⟸   NM_057167
- Peptide Label: isoform 5 precursor
- UniProtKB: B7ZW00 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004360   ⟸   NM_004369
- Peptide Label: isoform 1 precursor
- UniProtKB: Q53QF4 (UniProtKB/Swiss-Prot),   Q16501 (UniProtKB/Swiss-Prot),   E9PGQ9 (UniProtKB/Swiss-Prot),   E9PFQ6 (UniProtKB/Swiss-Prot),   B7ZMJ7 (UniProtKB/Swiss-Prot),   B4E3U5 (UniProtKB/Swiss-Prot),   A8MT30 (UniProtKB/Swiss-Prot),   Q53QF6 (UniProtKB/Swiss-Prot),   P12111 (UniProtKB/Swiss-Prot),   D9ZGF2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_476505   ⟸   NM_057164
- Peptide Label: isoform 2 precursor
- UniProtKB: Q63HQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_476506   ⟸   NM_057165
- Peptide Label: isoform 3 precursor
- UniProtKB: Q63HQ4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000315609   ⟸   ENST00000347401
Ensembl Acc Id: ENSP00000295550   ⟸   ENST00000295550
Ensembl Acc Id: ENSP00000460277   ⟸   ENST00000491233
Ensembl Acc Id: ENSP00000375860   ⟸   ENST00000392003
Ensembl Acc Id: ENSP00000375861   ⟸   ENST00000392004
Ensembl Acc Id: ENSP00000315873   ⟸   ENST00000353578
Ensembl Acc Id: ENSP00000389539   ⟸   ENST00000433762
Ensembl Acc Id: ENSP00000418285   ⟸   ENST00000472056
Ensembl Acc Id: ENSP00000386844   ⟸   ENST00000409809
Ensembl Acc Id: ENSP00000508058   ⟸   ENST00000683348
Ensembl Acc Id: ENSP00000508021   ⟸   ENST00000684597
Ensembl Acc Id: ENSP00000507870   ⟸   ENST00000682957
Protein Domains
BPTI/Kunitz inhibitor   Collagen-like   Fibronectin type-III   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12111-F1-model_v2 AlphaFold P12111 1-1400 view protein structure
AF-P12111-F2-model_v2 AlphaFold P12111 201-1600 view protein structure
AF-P12111-F3-model_v2 AlphaFold P12111 401-1800 view protein structure
AF-P12111-F4-model_v2 AlphaFold P12111 601-2000 view protein structure
AF-P12111-F5-model_v2 AlphaFold P12111 801-2200 view protein structure
AF-P12111-F6-model_v2 AlphaFold P12111 1001-2400 view protein structure
AF-P12111-F7-model_v2 AlphaFold P12111 1201-2600 view protein structure
AF-P12111-F8-model_v2 AlphaFold P12111 1401-2800 view protein structure
AF-P12111-F9-model_v2 AlphaFold P12111 1601-3000 view protein structure
AF-P12111-F10-model_v2 AlphaFold P12111 1801-3177 view protein structure

Promoters
RGD ID:6863206
Promoter ID:EPDNEW_H4768
Type:initiation region
Name:COL6A3_1
Description:collagen type VI alpha 3 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4769  EPDNEW_H4770  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382237,414,164 - 237,414,224EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2213 AgrOrtholog
COSMIC COL6A3 COSMIC
Ensembl Genes ENSG00000163359 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295550 ENTREZGENE
  ENST00000295550.9 UniProtKB/Swiss-Prot
  ENST00000347401.8 UniProtKB/TrEMBL
  ENST00000353578 ENTREZGENE
  ENST00000353578.9 UniProtKB/Swiss-Prot
  ENST00000392003 ENTREZGENE
  ENST00000392003.6 UniProtKB/Swiss-Prot
  ENST00000392004 ENTREZGENE
  ENST00000392004.7 UniProtKB/Swiss-Prot
  ENST00000433762.1 UniProtKB/TrEMBL
  ENST00000472056 ENTREZGENE
  ENST00000472056.5 UniProtKB/Swiss-Prot
  ENST00000682957.1 UniProtKB/TrEMBL
  ENST00000683348.1 UniProtKB/TrEMBL
  ENST00000684597.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163359 GTEx
HGNC ID HGNC:2213 ENTREZGENE
Human Proteome Map COL6A3 Human Proteome Map
InterPro Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen-VI/PIF UniProtKB/TrEMBL
  ECM_Assembly_Org UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz-type_SerProtInhib UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prtase_inh_Kunz-CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWA_collagen_alpha3-VI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1293 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1293 ENTREZGENE
OMIM 120250 OMIM
PANTHER COLLAGEN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-3(VI) CHAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COLLAGEN ALPHA-4(VI) CHAIN UniProtKB/TrEMBL
  KUNITZ-TYPE PROTEASE INHIBITOR-RELATED UniProtKB/TrEMBL
  PH DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  TISSUE FACTOR PATHWAY INHIBITOR 2 UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/TrEMBL
  VWFA DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kunitz_BPTI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26729 PharmGKB
PRINTS BASICPTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFADOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE BPTI_KUNITZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BPTI_KUNITZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57362 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HKC7_HUMAN UniProtKB/TrEMBL
  A0A804HKQ0_HUMAN UniProtKB/TrEMBL
  A0A804HKS9_HUMAN UniProtKB/TrEMBL
  A8MT30 ENTREZGENE
  B4E3U5 ENTREZGENE
  B7ZMJ7 ENTREZGENE
  B7ZW00 ENTREZGENE, UniProtKB/TrEMBL
  C9JNG9_HUMAN UniProtKB/TrEMBL
  CO6A3_HUMAN UniProtKB/Swiss-Prot
  D9ZGF2 ENTREZGENE, UniProtKB/TrEMBL
  E7ENL6_HUMAN UniProtKB/TrEMBL
  E9PFQ6 ENTREZGENE
  E9PGQ9 ENTREZGENE
  P12111 ENTREZGENE
  Q16501 ENTREZGENE
  Q53QF4 ENTREZGENE
  Q53QF6 ENTREZGENE
  Q63HQ4 ENTREZGENE, UniProtKB/TrEMBL
  Q8N4Z1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8MT30 UniProtKB/Swiss-Prot
  B4E3U5 UniProtKB/Swiss-Prot
  B7ZMJ7 UniProtKB/Swiss-Prot
  E9PFQ6 UniProtKB/Swiss-Prot
  E9PGQ9 UniProtKB/Swiss-Prot
  Q16501 UniProtKB/Swiss-Prot
  Q53QF4 UniProtKB/Swiss-Prot
  Q53QF6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 COL6A3  collagen type VI alpha 3 chain  COL6A3  collagen type VI alpha 3  Symbol and/or name change 5135510 APPROVED
2016-01-26 COL6A3  collagen type VI alpha 3  COL6A3  collagen, type VI, alpha 3  Symbol and/or name change 5135510 APPROVED