COL6A1 (collagen type VI alpha 1 chain) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: COL6A1 (collagen type VI alpha 1 chain) Homo sapiens
Analyze
Symbol: COL6A1
Name: collagen type VI alpha 1 chain
RGD ID: 1352880
Description: Exhibits collagen binding activity and platelet-derived growth factor binding activity. Involved in endodermal cell differentiation. Localizes to extracellular region and protein-containing complex. Implicated in Ullrich congenital muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha 1 (VI) chain (61 AA); BTHLM1; collagen alpha-1(VI) chain; collagen type VI alpha 1; collagen VI, alpha-1 polypeptide; collagen, type VI, alpha 1; OPLL; UCHMD1
Orthologs:
Mus musculus (house mouse) : Col6a1 (collagen, type VI, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col6a1 (collagen type VI alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col6a1 (collagen type VI alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL6A1 (collagen type VI alpha 1 chain)
Canis lupus familiaris (dog) : COL6A1 (collagen type VI alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col6a1 (collagen type VI alpha 1 chain)
Sus scrofa (pig) : LOC100623720 (collagen alpha-1(VI) chain)
Chlorocebus sabaeus (African green monkey) : COL6A1 (collagen type VI alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col6a1 (collagen type VI alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2145,981,769 - 46,005,050 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2145,981,737 - 46,005,050 (+)EnsemblGRCh38hg38GRCh38
GRCh382145,981,770 - 46,005,048 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,401,663 - 47,424,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,226,091 - 46,249,391 (+)NCBINCBI36hg18NCBI36
Build 342146,226,095 - 46,249,390NCBI
Celera2132,514,265 - 32,537,566 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,782,505 - 32,806,491 (+)NCBIHuRef
CHM1_12146,962,501 - 46,985,646 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
azelastine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (EXP)
DDT  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diethyl malate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
genistein  (EXP)
glucose  (EXP)
indometacin  (EXP)
ionomycin  (EXP)
irinotecan  (EXP)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methotrexate  (ISO)
methylparaben  (EXP)
methylseleninic acid  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nicotine  (ISO)
nimesulide  (ISO)
ochratoxin A  (EXP)
okadaic acid  (ISO)
oxaliplatin  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paraquat  (ISO)
Pargyline  (ISO)
phenytoin  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
selenomethionine  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
Tanshinone I  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
Y-27632  (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 palate morphology  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Adducted thumb  (IAGP)
Ankle flexion contracture  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cachexia  (IAGP)
Camptodactyly of finger  (IAGP)
Congenital muscular dystrophy  (IAGP)
Congenital muscular torticollis  (IAGP)
Decreased fetal movement  (IAGP)
Diaphragmatic weakness  (IAGP)
Distal joint laxity  (IAGP)
Distal muscle weakness  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Esotropia  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Follicular hyperkeratosis  (IAGP)
Frequent falls  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hyperextensibility at wrists  (IAGP)
Hyperhidrosis  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased laxity of ankles  (IAGP)
Increased laxity of fingers  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile onset  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Knee flexion contracture  (IAGP)
Kyphosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long toe  (IAGP)
Micrognathia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle fiber necrosis  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Neonatal hypotonia  (IAGP)
Nocturnal hypoventilation  (IAGP)
Pes valgus  (IAGP)
Progressive  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Protruding ear  (IAGP)
Proximal amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Reduced muscle collagen VI  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Round face  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender build  (IAGP)
Slender finger  (IAGP)
Slow progression  (IAGP)
Spinal rigidity  (IAGP)
Talipes equinovarus  (IAGP)
Torticollis  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Variable expressivity  (IAGP)
References

Additional References at PubMed
PMID:1544908   PMID:1765372   PMID:2446864   PMID:2551668   PMID:3198591   PMID:3348212   PMID:3665927   PMID:6852033   PMID:8168508   PMID:8536701   PMID:8618682   PMID:8889548  
PMID:8900172   PMID:9107679   PMID:9334230   PMID:9501082   PMID:9580662   PMID:10407855   PMID:10830953   PMID:11337467   PMID:11865138   PMID:11932968   PMID:11973338   PMID:12011280  
PMID:12374585   PMID:12477932   PMID:12736748   PMID:12840783   PMID:12958705   PMID:14981181   PMID:15146197   PMID:15489334   PMID:15563506   PMID:16130093   PMID:16141002   PMID:16210410  
PMID:16227896   PMID:16434404   PMID:17170699   PMID:17334655   PMID:17537636   PMID:17602442   PMID:17897319   PMID:18246005   PMID:18366090   PMID:18378883   PMID:18400749   PMID:18551403  
PMID:18634150   PMID:18825676   PMID:19056867   PMID:19199708   PMID:19204726   PMID:19309692   PMID:20301468   PMID:20301676   PMID:20551380   PMID:20721706   PMID:20976770   PMID:21037586  
PMID:21280222   PMID:21873635   PMID:21900206   PMID:21942715   PMID:22012643   PMID:22199357   PMID:22261194   PMID:22268729   PMID:22583932   PMID:23013106   PMID:23154389   PMID:23221806  
PMID:23376485   PMID:23533145   PMID:23658023   PMID:23869615   PMID:24271325   PMID:24357721   PMID:24443028   PMID:24737472   PMID:24801232   PMID:25037231   PMID:25073002   PMID:25176343  
PMID:25204870   PMID:25325876   PMID:25535305   PMID:25925694   PMID:25978941   PMID:26186194   PMID:26317545   PMID:26447986   PMID:26753503   PMID:27068509   PMID:27246988   PMID:27559042  
PMID:27628582   PMID:28327460   PMID:28514442   PMID:28675934   PMID:28984114   PMID:29117863   PMID:29244830   PMID:29659864   PMID:29673351   PMID:29764467   PMID:29872149   PMID:30021884  
PMID:30321347   PMID:30706156   PMID:30895940   PMID:31268154   PMID:31273343   PMID:31536960   PMID:31831033   PMID:32353859  


Genomics

Comparative Map Data
COL6A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2145,981,769 - 46,005,050 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2145,981,737 - 46,005,050 (+)EnsemblGRCh38hg38GRCh38
GRCh382145,981,770 - 46,005,048 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372147,401,663 - 47,424,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,226,091 - 46,249,391 (+)NCBINCBI36hg18NCBI36
Build 342146,226,095 - 46,249,390NCBI
Celera2132,514,265 - 32,537,566 (+)NCBI
Cytogenetic Map21q22.3NCBI
HuRef2132,782,505 - 32,806,491 (+)NCBIHuRef
CHM1_12146,962,501 - 46,985,646 (+)NCBICHM1_1
Col6a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,544,626 - 76,561,878 (-)NCBI
GRCm381076,708,792 - 76,726,044 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,708,792 - 76,726,168 (-)EnsemblGRCm38mm10GRCm38
MGSCv371076,171,537 - 76,188,789 (-)NCBIGRCm37mm9NCBIm37
MGSCv361076,152,508 - 76,169,760 (-)NCBImm8
Celera1077,753,031 - 77,770,283 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.71NCBI
Col6a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.02012,657,913 - 12,676,370 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,658,065 - 12,675,561 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02014,817,411 - 14,835,868 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,320,102 - 12,338,500 (+)NCBIRGSC3.4rn4RGSC3.4
Celera2013,404,454 - 13,422,911 (+)NCBICelera
Cytogenetic Map20p12NCBI
Col6a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,461,952 - 42,478,261 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,461,837 - 42,479,048 (+)NCBIChiLan1.0ChiLan1.0
COL6A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12145,583,978 - 45,608,233 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,584,096 - 45,607,240 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02132,322,185 - 32,346,850 (+)NCBI
COL6A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl3139,301,748 - 39,448,062 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.13139,301,718 - 39,319,895 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Col6a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936778515,600 - 530,828 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC100623720
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13208,295,240 - 208,313,127 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113208,295,245 - 208,321,789 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
COL6A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,608,525 - 89,649,823 (+)NCBI
Col6a1
(Heterocephalus glaber - naked mole-rat)
No map positions available.

Position Markers
RH75955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,423,944 - 47,424,255UniSTSGRCh37
GRCh372147,423,944 - 47,424,213UniSTSGRCh37
Build 362146,248,372 - 46,248,641RGDNCBI36
Celera2132,536,547 - 32,536,816RGD
Celera2132,536,547 - 32,536,858UniSTS
Cytogenetic Map21q22.3UniSTS
HuRef2132,805,472 - 32,805,741UniSTS
HuRef2132,805,472 - 32,805,783UniSTS
STS_CEB250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,407,562 - 47,408,606UniSTSGRCh37
Build 362146,231,990 - 46,233,034RGDNCBI36
Celera2132,520,164 - 32,521,208RGD
Cytogenetic Map21q22.3UniSTS
HuRef2132,788,410 - 32,789,641UniSTS
COL6A1_3124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372147,424,456 - 47,424,990UniSTSGRCh37
Build 362146,248,884 - 46,249,418RGDNCBI36
Celera2132,537,059 - 32,537,593RGD
HuRef2132,805,984 - 32,806,518UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2395
Count of miRNA genes:924
Interacting mature miRNAs:1121
Transcripts:ENST00000361866, ENST00000463060, ENST00000466285, ENST00000486023, ENST00000492851, ENST00000498614
Prediction methods:Microtar, Miranda, Rnahybrid
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1429 653 1 34 454 801 24 16 458 25 270 225
Medium 954 1583 1704 607 538 447 3894 1380 3603 396 956 1504 168 934 2563 2
Low 44 694 15 16 903 18 8 12 81 6 40 59 4 1 3 1
Below cutoff 9 55 4 336 1 7 1 6 22 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH003818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI769554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM686857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM707144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN369041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M27447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361866   ⟹   ENSP00000355180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,981,770 - 46,005,048 (+)Ensembl
RefSeq Acc Id: ENST00000463060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,000,931 - 46,003,149 (+)Ensembl
RefSeq Acc Id: ENST00000466285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,999,400 - 46,000,928 (+)Ensembl
RefSeq Acc Id: ENST00000486023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,002,489 - 46,004,106 (+)Ensembl
RefSeq Acc Id: ENST00000492851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,987,109 - 45,987,633 (+)Ensembl
RefSeq Acc Id: ENST00000498614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2146,001,197 - 46,005,050 (+)Ensembl
RefSeq Acc Id: ENST00000612273   ⟹   ENSP00000483630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2145,981,769 - 46,004,101 (+)Ensembl
RefSeq Acc Id: NM_001848   ⟹   NP_001839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,981,770 - 46,005,048 (+)NCBI
GRCh372147,401,663 - 47,424,963 (+)ENTREZGENE
Build 362146,226,091 - 46,249,391 (+)NCBI Archive
HuRef2132,782,505 - 32,806,491 (+)ENTREZGENE
CHM1_12146,962,501 - 46,985,646 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001839   ⟸   NM_001848
- Peptide Label: precursor
- UniProtKB: P12109 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000355180   ⟸   ENST00000361866
RefSeq Acc Id: ENSP00000483630   ⟸   ENST00000612273
Protein Domains
VWFA

Promoters
RGD ID:13603068
Promoter ID:EPDNEW_H27719
Type:initiation region
Name:COL6A1_1
Description:collagen type VI alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27720  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382145,981,770 - 45,981,830EPDNEW
RGD ID:13603072
Promoter ID:EPDNEW_H27720
Type:initiation region
Name:COL6A1_2
Description:collagen type VI alpha 1 chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27719  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382146,001,290 - 46,001,350EPDNEW
RGD ID:6799384
Promoter ID:HG_KWN:41265
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   NB4
Transcripts:OTTHUMT00000206877
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,225,706 - 46,226,206 (+)MPROMDB
RGD ID:6852076
Promoter ID:EP73844
Type:initiation region
Name:HS_COL6A1
Description:Collagen, type VI, alpha 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362146,226,112 - 46,226,172EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001848.2(COL6A1):c.846_854del (p.Glu282_Gly284del) deletion Bethlem myopathy 1 [RCV000552183]|not provided [RCV000596227] Chr21:45989120..45989128 [GRCh38]
Chr21:47409034..47409042 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
NM_001848.2(COL6A1):c.1930C>T (p.Arg644Trp) single nucleotide variant Bethlem myopathy 1 [RCV000555811] Chr21:46001360 [GRCh38]
Chr21:47421274 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.957_957+7del deletion Bethlem myopathy 1 [RCV000559674]|not provided [RCV000591927] Chr21:45990284..45990291 [GRCh38]
Chr21:47410198..47410205 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.823G>T (p.Gly275Trp) single nucleotide variant Bethlem myopathy 1 [RCV000544305] Chr21:45989102 [GRCh38]
Chr21:47409016 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.984C>T (p.Asp328=) single nucleotide variant Bethlem myopathy 1 [RCV000548193] Chr21:45990404 [GRCh38]
Chr21:47410318 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.2876T>C (p.Val959Ala) single nucleotide variant Bethlem myopathy 1 [RCV001085503]|not provided [RCV000726628] Chr21:46003802 [GRCh38]
Chr21:47423716 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2434+5G>T single nucleotide variant not provided [RCV000520232] Chr21:46002715 [GRCh38]
Chr21:47422629 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1577G>T (p.Gly526Val) single nucleotide variant Bethlem myopathy 1 [RCV000018709] Chr21:45998399 [GRCh38]
Chr21:47418313 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.931-1G>A single nucleotide variant Bethlem myopathy 1 [RCV000018710]|not provided [RCV000725055] Chr21:45990257 [GRCh38]
Chr21:47410171 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.3(COL6A1):c.1056+2T>C single nucleotide variant Bethlem myopathy 1 [RCV000018711] Chr21:45990828 [GRCh38]
Chr21:47410742 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1022G>A (p.Gly341Asp) single nucleotide variant Bethlem myopathy 1 [RCV000018712] Chr21:45990792 [GRCh38]
Chr21:47410706 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.362A>G (p.Lys121Arg) single nucleotide variant Bethlem myopathy 1 [RCV000018713]|not provided [RCV000177135] Chr21:45984403 [GRCh38]
Chr21:47404317 [GRCh37]
Chr21:21q22.3
pathogenic|conflicting interpretations of pathogenicity
NM_001848.3(COL6A1):c.1056+1G>A single nucleotide variant Bethlem myopathy 1 [RCV000018714]|Sensorimotor neuropathy [RCV000626814]|not provided [RCV000079739] Chr21:45990827 [GRCh38]
Chr21:47410741 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.805-572_903+5delinsTCCCTCCCCATTTCC indel Ullrich congenital muscular dystrophy 1, autosomal dominant [RCV000018715] Chr21:45988512..45989657 [GRCh38]
Chr21:47408426..47409571 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.428+1G>A single nucleotide variant Bethlem myopathy 1 [RCV000018716] Chr21:45984470 [GRCh38]
Chr21:47404384 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.857del (p.Pro286fs) deletion Ullrich congenital muscular dystrophy 1 [RCV000018717] Chr21:45989135 [GRCh38]
Chr21:47409049 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1465del (p.Ala489fs) deletion Ullrich congenital muscular dystrophy 1 [RCV000018718] Chr21:45997703 [GRCh38]
Chr21:47417617 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1977C>G (p.Tyr659Ter) single nucleotide variant Ullrich congenital muscular dystrophy 1 [RCV000018719] Chr21:46001981 [GRCh38]
Chr21:47421895 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.3(COL6A1):c.850G>A single nucleotide variant Bethlem myopathy 1 [RCV000180573]|Ullrich congenital muscular dystrophy 1 [RCV000180574]|Ullrich congenital muscular dystrophy 1, autosomal dominant [RCV000018720]|not provided [RCV000079828] Chr21:45989129 [GRCh38]
Chr21:47409043 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
NM_001848.2(COL6A1):c.868G>C (p.Gly290Arg) single nucleotide variant Ullrich congenital muscular dystrophy 1, autosomal dominant [RCV000018721] Chr21:45989617 [GRCh38]
Chr21:47409531 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.841G>A (p.Gly281Arg) single nucleotide variant Bethlem myopathy 1 [RCV001216604]|Ullrich congenital muscular dystrophy 1 [RCV000018722]|not provided [RCV000497629] Chr21:45989120 [GRCh38]
Chr21:47409034 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.2797G>A (p.Gly933Ser) single nucleotide variant not provided [RCV000727644] Chr21:46003723 [GRCh38]
Chr21:47423637 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.148del (p.Ala49_Leu50insTer) deletion Bethlem myopathy 1 [RCV000556327] Chr21:45982682 [GRCh38]
Chr21:47402596 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.162C>T (p.Pro54=) single nucleotide variant Bethlem myopathy 1 [RCV000558198] Chr21:45982698 [GRCh38]
Chr21:47402612 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1190C>T (p.Pro397Leu) single nucleotide variant Bethlem myopathy 1 [RCV000542995] Chr21:45992171 [GRCh38]
Chr21:47412085 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1959C>T (p.Phe653=) single nucleotide variant Bethlem myopathy 1 [RCV001086474]|not provided [RCV000594128] Chr21:46001963 [GRCh38]
Chr21:47421877 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.519G>A (p.Glu173=) single nucleotide variant not provided [RCV000728003] Chr21:45986616 [GRCh38]
Chr21:47406530 [GRCh37]
Chr21:21q22.3
conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.278A>T (p.Tyr93Phe) single nucleotide variant not provided [RCV000728007] Chr21:45984319 [GRCh38]
Chr21:47404233 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.429-8C>T single nucleotide variant not provided [RCV000729301] Chr21:45986518 [GRCh38]
Chr21:47406432 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.273G>A (p.Leu91=) single nucleotide variant not provided [RCV000550127] Chr21:45984314 [GRCh38]
Chr21:47404228 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1887G>A (p.Gln629=) single nucleotide variant not specified [RCV000602913] Chr21:46001317 [GRCh38]
Chr21:47421231 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1945G>A (p.Glu649Lys) single nucleotide variant Bethlem myopathy 1 [RCV000626107] Chr21:46001375 [GRCh38]
Chr21:47421289 [GRCh37]
Chr21:21q22.3
likely pathogenic|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.2789C>T (p.Ala930Val) single nucleotide variant not provided [RCV000520489] Chr21:46003715 [GRCh38]
Chr21:47423629 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2784C>T (p.Arg928=) single nucleotide variant Bethlem myopathy 1 [RCV000551699] Chr21:46003710 [GRCh38]
Chr21:47423624 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2615G>A (p.Arg872Gln) single nucleotide variant Bethlem myopathy 1 [RCV000555212] Chr21:46003541 [GRCh38]
Chr21:47423455 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.868G>T (p.Gly290Trp) single nucleotide variant Bethlem myopathy 1 [RCV000557620] Chr21:45989617 [GRCh38]
Chr21:47409531 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.3034C>T (p.Leu1012=) single nucleotide variant Bethlem myopathy 1 [RCV001088938]|not provided [RCV000828070] Chr21:46003960 [GRCh38]
Chr21:47423874 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1227G>A (p.Ala409=) single nucleotide variant Bethlem myopathy 1 [RCV000560097] Chr21:45992208 [GRCh38]
Chr21:47412122 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.614C>T (p.Thr205Met) single nucleotide variant not provided [RCV000523131] Chr21:45986969 [GRCh38]
Chr21:47406883 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.3(COL6A1):c.717+1G>A single nucleotide variant Neurodevelopmental disorder [RCV001196844] Chr21:45987073 [GRCh38]
Chr21:47406987 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) single nucleotide variant Bethlem myopathy 1 [RCV001083967]|Collagen VI-related myopathy [RCV000360603]|not provided [RCV000723507]|not specified [RCV000050243] Chr21:45984391 [GRCh38]
Chr21:47404305 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3 copy number gain See cases [RCV000052831] Chr21:45084236..45991858 [GRCh38]
Chr21:46504151..47411772 [GRCh37]
Chr21:45328579..46236200 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45085281-46670546)x1 copy number loss See cases [RCV000052841] Chr21:45085281..46670546 [GRCh38]
Chr21:46505196..48090458 [GRCh37]
Chr21:45329624..46914886 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1 copy number loss See cases [RCV000052842] Chr21:45110477..46648012 [GRCh38]
Chr21:46530392..48067924 [GRCh37]
Chr21:45354820..46892352 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1 copy number loss See cases [RCV000052864] Chr21:45138321..46670405 [GRCh38]
Chr21:46558236..48090317 [GRCh37]
Chr21:45382664..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1 copy number loss See cases [RCV000052866] Chr21:45801860..46670405 [GRCh38]
Chr21:47221774..48090317 [GRCh37]
Chr21:46046202..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45471378-46670405)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053073]|See cases [RCV000053073] Chr21:45471378..46670405 [GRCh38]
Chr21:46891292..48090317 [GRCh37]
Chr21:45715720..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001848.2(COL6A1):c.-5C>G single nucleotide variant Collagen VI-related myopathy [RCV000314940]|not specified [RCV000079729] Chr21:45981846 [GRCh38]
Chr21:47401760 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+37A>G single nucleotide variant not specified [RCV000079730] Chr21:45990459 [GRCh38]
Chr21:47410373 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCGGGAGGACGGGGAGGGACGGGGAGG insertion not specified [RCV000079731] Chr21:45990459..45990460 [GRCh38]
Chr21:47410373..47410374 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+43A>G single nucleotide variant not specified [RCV000079732] Chr21:45990465 [GRCh38]
Chr21:47410379 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+43_1002+52del deletion not specified [RCV000079733] Chr21:45990465..45990474 [GRCh38]
Chr21:47410379..47410388 [GRCh37]
Chr21:21q22.3
benign
NM_001848.3(COL6A1):c.1002+44_1002+82del deletion not specified [RCV000079734] Chr21:45990465..45990503 [GRCh38]
Chr21:47410379..47410417 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+45T>C single nucleotide variant not specified [RCV000079735] Chr21:45990467 [GRCh38]
Chr21:47410381 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1002+50C>A single nucleotide variant not provided [RCV000831448]|not specified [RCV000079736] Chr21:45990472 [GRCh38]
Chr21:47410386 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.1002+50C>T single nucleotide variant not specified [RCV000079737] Chr21:45990472 [GRCh38]
Chr21:47410386 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1024_1032del (p.Leu342_Gly344del) deletion not provided [RCV000079738] Chr21:45990788..45990796 [GRCh38]
Chr21:47410702..47410710 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1056+1G>A single nucleotide variant Bethlem myopathy [RCV000174723]|Ullrich congenital muscular dystrophy [RCV000174722]|not provided [RCV000079739] Chr21:45990827 [GRCh38]
Chr21:47410741 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) single nucleotide variant Bethlem myopathy 1 [RCV000554029]|Collagen VI-related myopathy [RCV000303800]|not specified [RCV000079740] Chr21:45990826 [GRCh38]
Chr21:47410740 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.105C>G (p.Pro35=) single nucleotide variant Bethlem myopathy 1 [RCV000530194]|Collagen VI-related myopathy [RCV000362583]|not specified [RCV000079741] Chr21:45982641 [GRCh38]
Chr21:47402555 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) single nucleotide variant Bethlem myopathy 1 [RCV000576447]|Collagen VI-related myopathy [RCV000358186]|not specified [RCV000079742] Chr21:45991017 [GRCh38]
Chr21:47410931 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1119+39C>T single nucleotide variant not specified [RCV000079743] Chr21:45991080 [GRCh38]
Chr21:47410994 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1120-12G>A single nucleotide variant Collagen VI-related myopathy [RCV000327992]|not specified [RCV000079744] Chr21:45991998 [GRCh38]
Chr21:47411912 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1273-8C>T single nucleotide variant Bethlem myopathy 1 [RCV000536281]|Collagen VI-related myopathy [RCV000348509]|not specified [RCV000079745] Chr21:45992740 [GRCh38]
Chr21:47412654 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) single nucleotide variant Bethlem myopathy 1 [RCV000556912]|Collagen VI-related myopathy [RCV000335616]|not specified [RCV000079746] Chr21:45992789 [GRCh38]
Chr21:47412703 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) single nucleotide variant Bethlem myopathy 1 [RCV000536498]|Collagen VI-related myopathy [RCV000406696]|not specified [RCV000079747] Chr21:45992791 [GRCh38]
Chr21:47412705 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.1335+27A>C single nucleotide variant not provided [RCV000838824]|not specified [RCV000079748] Chr21:45992837 [GRCh38]
Chr21:47412751 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1398+10G>A single nucleotide variant Bethlem myopathy 1 [RCV001080919]|Collagen VI-related myopathy [RCV000301977]|not provided [RCV000723544]|not specified [RCV000079749] Chr21:45994239 [GRCh38]
Chr21:47414153 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1399-32T>C single nucleotide variant not provided [RCV000839657]|not specified [RCV000079750] Chr21:45997389 [GRCh38]
Chr21:47417303 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) single nucleotide variant Bethlem myopathy 1 [RCV000550457]|Collagen VI-related myopathy [RCV000403450]|not specified [RCV000079751] Chr21:45997465 [GRCh38]
Chr21:47417379 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.1461+18C>A single nucleotide variant not specified [RCV000079752] Chr21:45997501 [GRCh38]
Chr21:47417415 [GRCh37]
Chr21:21q22.3
benign
NM_001848.3(COL6A1):c.1461+41dup duplication not specified [RCV000079753] Chr21:45997518..45997519 [GRCh38]
Chr21:47417432..47417433 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1462-36A>G single nucleotide variant not provided [RCV000839658]|not specified [RCV000079754] Chr21:45997664 [GRCh38]
Chr21:47417578 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1505C>T (p.Pro502Leu) single nucleotide variant Skeletal dysplasia [RCV001197518]|not provided [RCV000079755] Chr21:45997743 [GRCh38]
Chr21:47417657 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1518T>C (p.Gly506=) single nucleotide variant Bethlem myopathy 1 [RCV000552125]|Collagen VI-related myopathy [RCV001140940]|not specified [RCV000079756] Chr21:45997756 [GRCh38]
Chr21:47417670 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1524+15G>A single nucleotide variant Collagen VI-related myopathy [RCV000277422]|not specified [RCV000079757] Chr21:45997777 [GRCh38]
Chr21:47417691 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.1524+19G>C single nucleotide variant not specified [RCV000079758] Chr21:45997781 [GRCh38]
Chr21:47417695 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1525-60A>G single nucleotide variant not provided [RCV000839659]|not specified [RCV000079759] Chr21:45998061 [GRCh38]
Chr21:47417975 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1612-10G>A single nucleotide variant Bethlem myopathy 1 [RCV000529619]|Collagen VI-related myopathy [RCV001140941]|not specified [RCV000079760] Chr21:45998887 [GRCh38]
Chr21:47418801 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1612-6C>T single nucleotide variant Bethlem myopathy 1 [RCV000545653]|not specified [RCV000079761] Chr21:45998891 [GRCh38]
Chr21:47418805 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) single nucleotide variant Bethlem myopathy 1 [RCV001089392]|Collagen VI-related myopathy [RCV001142784]|not provided [RCV000723482]|not specified [RCV000079762] Chr21:45998950 [GRCh38]
Chr21:47418864 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1675-55C>T single nucleotide variant not provided [RCV000839661]|not specified [RCV000079763] Chr21:45999098 [GRCh38]
Chr21:47419012 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1740+50C>T single nucleotide variant not specified [RCV000079764] Chr21:45999268 [GRCh38]
Chr21:47419182 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) single nucleotide variant Bethlem myopathy 1 [RCV000535967]|Bethlem myopathy 1 [RCV000576721]|Collagen VI-related myopathy [RCV000339247]|not specified [RCV000079765] Chr21:45999689 [GRCh38]
Chr21:47419603 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1813+25T>G single nucleotide variant not specified [RCV000079766] Chr21:46000392 [GRCh38]
Chr21:47420306 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1814-6C>G single nucleotide variant Bethlem myopathy 1 [RCV000524686]|Collagen VI-related myopathy [RCV000344913]|not provided [RCV000991643]|not specified [RCV000079767] Chr21:46000753 [GRCh38]
Chr21:47420667 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.1822+42G>C single nucleotide variant not provided [RCV000838834]|not specified [RCV000079768] Chr21:46000809 [GRCh38]
Chr21:47420723 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1822+45C>G single nucleotide variant not provided [RCV000838830]|not specified [RCV000079769] Chr21:46000812 [GRCh38]
Chr21:47420726 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1822+45C>T single nucleotide variant not provided [RCV000838836]|not specified [RCV000079770] Chr21:46000812 [GRCh38]
Chr21:47420726 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_001848.2(COL6A1):c.1822+80G>A single nucleotide variant not provided [RCV000838831]|not specified [RCV000079771] Chr21:46000847 [GRCh38]
Chr21:47420761 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1822+88A>G single nucleotide variant not provided [RCV000838833]|not specified [RCV000079772] Chr21:46000855 [GRCh38]
Chr21:47420769 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1823-31C>T single nucleotide variant not specified [RCV000079773] Chr21:46001222 [GRCh38]
Chr21:47421136 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1823-8G>A single nucleotide variant Bethlem myopathy 1 [RCV000541812]|Collagen VI-related myopathy [RCV000314467]|not specified [RCV000173032] Chr21:46001245 [GRCh38]
Chr21:47421159 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1823-9C>T single nucleotide variant not provided [RCV000079775] Chr21:46001244 [GRCh38]
Chr21:47421158 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1833C>T (p.Cys611=) single nucleotide variant Bethlem myopathy 1 [RCV000554422]|Collagen VI-related myopathy [RCV001138472]|not specified [RCV000079776] Chr21:46001263 [GRCh38]
Chr21:47421177 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1931G>A (p.Arg644Gln) single nucleotide variant Bethlem myopathy 1 [RCV001065719]|not provided [RCV000079777] Chr21:46001361 [GRCh38]
Chr21:47421275 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1956+15C>T single nucleotide variant Collagen VI-related myopathy [RCV000403098]|not specified [RCV000079778] Chr21:46001401 [GRCh38]
Chr21:47421315 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1957-11C>T single nucleotide variant Collagen VI-related myopathy [RCV000311014]|not specified [RCV000079779] Chr21:46001950 [GRCh38]
Chr21:47421864 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1957-5C>T single nucleotide variant Bethlem myopathy 1 [RCV000530843]|Bethlem myopathy 1 [RCV000576332]|Collagen VI-related myopathy [RCV000357430]|not specified [RCV000079780] Chr21:46001956 [GRCh38]
Chr21:47421870 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) single nucleotide variant Bethlem myopathy 1 [RCV000576536]|Bethlem myopathy 1 [RCV001082005]|Collagen VI-related myopathy [RCV000353792]|not provided [RCV000224129]|not specified [RCV000079781] Chr21:46002046 [GRCh38]
Chr21:47421960 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) single nucleotide variant Bethlem myopathy 1 [RCV000544816]|Collagen VI-related myopathy [RCV000323721]|not specified [RCV000079782] Chr21:46002065 [GRCh38]
Chr21:47421979 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2067-10T>C single nucleotide variant Bethlem myopathy 1 [RCV000557349]|Collagen VI-related myopathy [RCV000378260]|not specified [RCV000079783] Chr21:46002208 [GRCh38]
Chr21:47422122 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.2091G>A (p.Met697Ile) single nucleotide variant not provided [RCV000079784] Chr21:46002242 [GRCh38]
Chr21:47422156 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) single nucleotide variant Bethlem myopathy 1 [RCV000546151]|Collagen VI-related myopathy [RCV000283833]|not specified [RCV000079785] Chr21:46002281 [GRCh38]
Chr21:47422195 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) single nucleotide variant Bethlem myopathy 1 [RCV000794035]|Collagen VI-related myopathy [RCV000383575]|not provided [RCV000079786] Chr21:46002342 [GRCh38]
Chr21:47422256 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001848.2(COL6A1):c.2251-29C>T single nucleotide variant not provided [RCV000838843]|not specified [RCV000079787] Chr21:46002498 [GRCh38]
Chr21:47422412 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2304G>C (p.Gln768His) single nucleotide variant Bethlem myopathy 1 [RCV001086476]|Collagen VI-related myopathy [RCV001142888]|not provided [RCV000079788] Chr21:46002580 [GRCh38]
Chr21:47422494 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) single nucleotide variant Bethlem myopathy 1 [RCV000527092]|Collagen VI-related myopathy [RCV000392469]|not specified [RCV000079789] Chr21:46002624 [GRCh38]
Chr21:47422538 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) single nucleotide variant Bethlem myopathy 1 [RCV000547752]|Collagen VI-related myopathy [RCV000350340]|not provided [RCV000224755]|not specified [RCV000079790] Chr21:46002700 [GRCh38]
Chr21:47422614 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2434+15A>G single nucleotide variant Collagen VI-related myopathy [RCV000392478]|not specified [RCV000079791] Chr21:46002725 [GRCh38]
Chr21:47422639 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2434+20G>A single nucleotide variant not specified [RCV000079792] Chr21:46002730 [GRCh38]
Chr21:47422644 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2434+55G>A single nucleotide variant not provided [RCV000838845]|not specified [RCV000079793] Chr21:46002765 [GRCh38]
Chr21:47422679 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2435-19C>T single nucleotide variant not specified [RCV000079794] Chr21:46003101 [GRCh38]
Chr21:47423015 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2435-36A>C single nucleotide variant not provided [RCV000079795] Chr21:46003084 [GRCh38]
Chr21:47422998 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) single nucleotide variant Bethlem myopathy 1 [RCV000552547]|Collagen VI-related myopathy [RCV000299422]|not specified [RCV000079796] Chr21:46003126 [GRCh38]
Chr21:47423040 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) single nucleotide variant Bethlem myopathy 1 [RCV000541236]|not specified [RCV000079797] Chr21:46003443 [GRCh38]
Chr21:47423357 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) single nucleotide variant Bethlem myopathy 1 [RCV000576724]|Collagen VI-related myopathy [RCV000305303]|not specified [RCV000079798] Chr21:46003475 [GRCh38]
Chr21:47423389 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2614C>T (p.Arg872Trp) single nucleotide variant Bethlem myopathy 1 [RCV000653571]|Bethlem myopathy 1 [RCV000764265]|not provided [RCV000723506] Chr21:46003540 [GRCh38]
Chr21:47423454 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) single nucleotide variant Bethlem myopathy 1 [RCV000531637]|Collagen VI-related myopathy [RCV000271407]|not provided [RCV000997844]|not specified [RCV000252293] Chr21:46003568 [GRCh38]
Chr21:47423482 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) single nucleotide variant Bethlem myopathy 1 [RCV000576341]|Collagen VI-related myopathy [RCV000381032]|not specified [RCV000079801] Chr21:46003593 [GRCh38]
Chr21:47423507 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) single nucleotide variant Bethlem myopathy 1 [RCV000576539]|Collagen VI-related myopathy [RCV000277216]|not specified [RCV000079802] Chr21:46003595 [GRCh38]
Chr21:47423509 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) single nucleotide variant Bethlem myopathy 1 [RCV000537515]|Bethlem myopathy 1 [RCV000576746]|Collagen VI-related myopathy [RCV000332430]|not specified [RCV000079803] Chr21:46003662 [GRCh38]
Chr21:47423576 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) single nucleotide variant Bethlem myopathy 1 [RCV000556998]|Collagen VI-related myopathy [RCV000387003]|not specified [RCV000079804] Chr21:46003668 [GRCh38]
Chr21:47423582 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) single nucleotide variant Bethlem myopathy 1 [RCV000526493]|Collagen VI-related myopathy [RCV000292706]|not specified [RCV000079805] Chr21:46003707 [GRCh38]
Chr21:47423621 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) single nucleotide variant Bethlem myopathy 1 [RCV000539076]|Collagen VI-related myopathy [RCV001141145]|not specified [RCV000079806] Chr21:46003709 [GRCh38]
Chr21:47423623 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.2796C>T (p.Ser932=) single nucleotide variant Collagen VI-related myopathy [RCV000374356]|not specified [RCV000079807] Chr21:46003722 [GRCh38]
Chr21:47423636 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) single nucleotide variant Bethlem myopathy 1 [RCV000551926]|Collagen VI-related myopathy [RCV000305495]|not specified [RCV000254209] Chr21:46003791 [GRCh38]
Chr21:47423705 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) single nucleotide variant Bethlem myopathy 1 [RCV000559065]|Collagen VI-related myopathy [RCV000264634]|not provided [RCV000991644]|not specified [RCV000079809] Chr21:45984388 [GRCh38]
Chr21:47404302 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.428+14A>G single nucleotide variant Collagen VI-related myopathy [RCV000268241]|not specified [RCV000079811] Chr21:45984483 [GRCh38]
Chr21:47404397 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.428+39C>G single nucleotide variant not specified [RCV000079812] Chr21:45984508 [GRCh38]
Chr21:47404422 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.428+40G>A single nucleotide variant not specified [RCV000079813] Chr21:45984509 [GRCh38]
Chr21:47404423 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.429-19G>A single nucleotide variant not specified [RCV000079814] Chr21:45986507 [GRCh38]
Chr21:47406421 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.549C>T (p.Gly183=) single nucleotide variant Collagen VI-related myopathy [RCV001142575]|not provided [RCV000079815] Chr21:45986646 [GRCh38]
Chr21:47406560 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.588+12_588+13insA insertion not provided [RCV000079816] Chr21:45986697..45986698 [GRCh38]
Chr21:47406611..47406612 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.588+13C>A single nucleotide variant Collagen VI-related myopathy [RCV000320458]|not specified [RCV000079817] Chr21:45986698 [GRCh38]
Chr21:47406612 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.588+19dup duplication Collagen VI-related myopathy [RCV000265411]|not specified [RCV000079818] Chr21:45986696..45986697 [GRCh38]
Chr21:47406610..47406611 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.588+37A>G single nucleotide variant not provided [RCV000839923]|not specified [RCV000079819] Chr21:45986722 [GRCh38]
Chr21:47406636 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.588+8C>G single nucleotide variant Bethlem myopathy 1 [RCV001088597]|Collagen VI-related myopathy [RCV000373411]|not provided [RCV000723505]|not specified [RCV000079820] Chr21:45986693 [GRCh38]
Chr21:47406607 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) single nucleotide variant Bethlem myopathy 1 [RCV000555981]|Collagen VI-related myopathy [RCV000384340]|not specified [RCV000079821] Chr21:45987000 [GRCh38]
Chr21:47406914 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001848.2(COL6A1):c.717+32C>T single nucleotide variant not specified [RCV000079822] Chr21:45987104 [GRCh38]
Chr21:47407018 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.738+14C>T single nucleotide variant not provided [RCV000079823] Chr21:45987189 [GRCh38]
Chr21:47407103 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.739-18C>T single nucleotide variant not specified [RCV000079824] Chr21:45987481 [GRCh38]
Chr21:47407395 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.739-51C>T single nucleotide variant not provided [RCV000838818]|not specified [RCV000079825] Chr21:45987448 [GRCh38]
Chr21:47407362 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.805-2A>G single nucleotide variant not provided [RCV000180576] Chr21:45989082 [GRCh38]
Chr21:47408996 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.814G>A (p.Gly272Ser) single nucleotide variant Motor delay [RCV000415255]|not provided [RCV000079827] Chr21:45989093 [GRCh38]
Chr21:47409007 [GRCh37]
Chr21:21q22.3
likely pathogenic|uncertain significance
NM_001848.2(COL6A1):c.859-18T>A single nucleotide variant not provided [RCV000723536]|not specified [RCV000245566] Chr21:45989590 [GRCh38]
Chr21:47409504 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.859-19A>G single nucleotide variant not specified [RCV000079830] Chr21:45989589 [GRCh38]
Chr21:47409503 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.859-20C>T single nucleotide variant not specified [RCV000079831] Chr21:45989588 [GRCh38]
Chr21:47409502 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.859-22A>G single nucleotide variant not provided [RCV000079832] Chr21:45989586 [GRCh38]
Chr21:47409500 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.3(COL6A1):c.868G>A single nucleotide variant Bethlem myopathy 1 [RCV000173748]|Ullrich congenital muscular dystrophy 1 [RCV001251002]|not provided [RCV000079833] Chr21:45989617 [GRCh38]
Chr21:47409531 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.877G>A (p.Gly293Arg) single nucleotide variant Bethlem myopathy 1 [RCV000173744]|not provided [RCV000173743] Chr21:45989626 [GRCh38]
Chr21:47409540 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.896G>A (p.Gly299Glu) single nucleotide variant not provided [RCV000173745] Chr21:45989645 [GRCh38]
Chr21:47409559 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001848.2(COL6A1):c.903+14C>A single nucleotide variant Collagen VI-related myopathy [RCV000350651]|not specified [RCV000079836] Chr21:45989666 [GRCh38]
Chr21:47409580 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.958-17G>A single nucleotide variant not specified [RCV000079837] Chr21:45990361 [GRCh38]
Chr21:47410275 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) single nucleotide variant Bethlem myopathy 1 [RCV000529637]|Collagen VI-related myopathy [RCV001138246]|not specified [RCV000116791] Chr21:46003980 [GRCh38]
Chr21:47423894 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) single nucleotide variant Bethlem myopathy 1 [RCV000515158]|Bethlem myopathy 1 [RCV001080605]|Collagen VI-related myopathy [RCV000303402]|not provided [RCV000116792]|not specified [RCV000149921] Chr21:45984390 [GRCh38]
Chr21:47404304 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.997G>A (p.Val333Met) single nucleotide variant Bethlem myopathy 1 [RCV000536586]|Collagen VI-related myopathy [RCV000362036]|not specified [RCV000318177] Chr21:45990417 [GRCh38]
Chr21:47410331 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.904G>C (p.Gly302Arg) single nucleotide variant not provided [RCV000174058] Chr21:45989752 [GRCh38]
Chr21:47409666 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.957+2T>C single nucleotide variant not provided [RCV000174303] Chr21:45990286 [GRCh38]
Chr21:47410200 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.128A>C (p.Asp43Ala) single nucleotide variant not provided [RCV000171351] Chr21:45982664 [GRCh38]
Chr21:47402578 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) single nucleotide variant Bethlem myopathy 1 [RCV000557554]|Collagen VI-related myopathy [RCV000289266]|not specified [RCV000177641] Chr21:46002371 [GRCh38]
Chr21:47422285 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) single nucleotide variant Bethlem myopathy 1 [RCV001069027] Chr21:45986632 [GRCh38]
Chr21:47406546 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.956A>G (p.Lys319Arg) single nucleotide variant Bethlem myopathy 1 [RCV000821054]|not provided [RCV000174301] Chr21:45990283 [GRCh38]
Chr21:47410197 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.904-10G>A single nucleotide variant not provided [RCV000174057] Chr21:45989742 [GRCh38]
Chr21:47409656 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1182+3G>A single nucleotide variant Bethlem myopathy 1 [RCV001083353]|Collagen VI-related myopathy [RCV000269389]|not provided [RCV000437375]|not specified [RCV000153079] Chr21:45992075 [GRCh38]
Chr21:47411989 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) single nucleotide variant Bethlem myopathy 1 [RCV000535717]|Collagen VI-related myopathy [RCV000404129]|not specified [RCV000247813] Chr21:45990401 [GRCh38]
Chr21:47410315 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1013G>A (p.Gly338Glu) single nucleotide variant Bethlem myopathy 1 [RCV001071986]|not provided [RCV000320695] Chr21:45990783 [GRCh38]
Chr21:47410697 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:45877354-46543273)x3 copy number gain See cases [RCV000137820] Chr21:45877354..46543273 [GRCh38]
Chr21:47297268..47963186 [GRCh37]
Chr21:46121696..46787614 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh38/hg38 21q22.3(chr21:45903036-46677460)x1 copy number loss See cases [RCV000141901] Chr21:45903036..46677460 [GRCh38]
Chr21:47322950..48097372 [GRCh37]
Chr21:46147378..46921800 [NCBI36]
Chr21:21q22.3
uncertain significance
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1612-11C>T single nucleotide variant Congenital muscular dystrophy [RCV000149917] Chr21:45998886 [GRCh38]
Chr21:47418800 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.1378G>A (p.Val460Ile) single nucleotide variant Bethlem myopathy 1 [RCV001205926] Chr21:45994209 [GRCh38]
Chr21:47414123 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) single nucleotide variant Bethlem myopathy 1 [RCV001086949]|Collagen VI-related myopathy [RCV000301615]|not provided [RCV000762044]|not specified [RCV000149919] Chr21:46003561 [GRCh38]
Chr21:47423475 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1335+20G>C single nucleotide variant not specified [RCV000153080] Chr21:45992830 [GRCh38]
Chr21:47412744 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) single nucleotide variant Bethlem myopathy 1 [RCV001084593]|Collagen VI-related myopathy [RCV000318495]|not provided [RCV000653627]|not specified [RCV000153081] Chr21:45998433 [GRCh38]
Chr21:47418347 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) single nucleotide variant Bethlem myopathy 1 [RCV000653530]|Bethlem myopathy 1 [RCV000764263]|Collagen VI-related myopathy [RCV001139936]|Ullrich congenital muscular dystrophy 1 [RCV000754716]|not provided [RCV000724794]|not specified [RCV000175702] Chr21:45982738 [GRCh38]
Chr21:47402652 [GRCh37]
Chr21:21q22.3
likely pathogenic|benign|uncertain significance
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) single nucleotide variant Bethlem myopathy 1 [RCV001086453]|Collagen VI-related myopathy [RCV000390817]|not provided [RCV000724857]|not specified [RCV000202666] Chr21:45982706 [GRCh38]
Chr21:47402620 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1350G>A (p.Pro450=) single nucleotide variant Bethlem myopathy 1 [RCV001081300]|not provided [RCV000723484]|not specified [RCV000176053] Chr21:45994181 [GRCh38]
Chr21:47414095 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2573G>A (p.Arg858His) single nucleotide variant Bethlem myopathy 1 [RCV001069846]|not specified [RCV000192499] Chr21:46003499 [GRCh38]
Chr21:47423413 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.717C>T (p.Ile239=) single nucleotide variant not provided [RCV000178848] Chr21:45987072 [GRCh38]
Chr21:47406986 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.595C>T (p.Arg199Cys) single nucleotide variant Bethlem myopathy 1 [RCV001243310]|not provided [RCV000178849] Chr21:45986950 [GRCh38]
Chr21:47406864 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) single nucleotide variant Bethlem myopathy 1 [RCV000546667]|Collagen VI-related myopathy [RCV000366297]|not specified [RCV000177134] Chr21:45984365 [GRCh38]
Chr21:47404279 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1575C>T (p.Pro525=) single nucleotide variant Bethlem myopathy 1 [RCV001236574]|not provided [RCV000176389] Chr21:45998171 [GRCh38]
Chr21:47418085 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1611C>A (p.Asn537Lys) single nucleotide variant not provided [RCV000176472] Chr21:45998433 [GRCh38]
Chr21:47418347 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1823-8G>T single nucleotide variant not provided [RCV000177458] Chr21:46001245 [GRCh38]
Chr21:47421159 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1684A>G (p.Ile562Val) single nucleotide variant Bethlem myopathy 1 [RCV000547013]|Bethlem myopathy 1 [RCV000764264]|not provided [RCV000176643] Chr21:45999162 [GRCh38]
Chr21:47419076 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) single nucleotide variant Bethlem myopathy 1 [RCV000653535]|Collagen VI-related myopathy [RCV000268594]|not provided [RCV000585392]|not specified [RCV000253738] Chr21:46002049 [GRCh38]
Chr21:47421963 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) single nucleotide variant Bethlem myopathy 1 [RCV000184024]|not provided [RCV000731127] Chr21:45989100 [GRCh38]
Chr21:47409014 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic|uncertain significance
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) single nucleotide variant Bethlem myopathy 1 [RCV000824033]|Collagen VI-related myopathy [RCV000334943]|not provided [RCV000177839] Chr21:46003747 [GRCh38]
Chr21:47423661 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) single nucleotide variant Bethlem myopathy 1 [RCV000653663]|Collagen VI-related myopathy [RCV000335709]|not specified [RCV000251672] Chr21:46003395 [GRCh38]
Chr21:47423309 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2891G>A (p.Arg964Gln) single nucleotide variant not provided [RCV000177841] Chr21:46003817 [GRCh38]
Chr21:47423731 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2660A>G (p.Glu887Gly) single nucleotide variant not provided [RCV000724223] Chr21:46003586 [GRCh38]
Chr21:47423500 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2507G>A (p.Gly836Asp) single nucleotide variant not provided [RCV000177843] Chr21:46003433 [GRCh38]
Chr21:47423347 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) single nucleotide variant Bethlem myopathy 1 [RCV000532641]|Collagen VI-related myopathy [RCV000339306]|not specified [RCV000246020] Chr21:46003792 [GRCh38]
Chr21:47423706 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) single nucleotide variant Bethlem myopathy 1 [RCV001087752]|Collagen VI-related myopathy [RCV000279845]|not provided [RCV000431648]|not specified [RCV000177845] Chr21:46003735 [GRCh38]
Chr21:47423649 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) single nucleotide variant Bethlem myopathy 1 [RCV000548602]|Collagen VI-related myopathy [RCV000391951]|not specified [RCV000299364] Chr21:45999692 [GRCh38]
Chr21:47419606 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) single nucleotide variant Bethlem myopathy 1 [RCV000553291]|Collagen VI-related myopathy [RCV000393046]|not provided [RCV000274997] Chr21:46003801 [GRCh38]
Chr21:47423715 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) single nucleotide variant Bethlem myopathy 1 [RCV000800199]|Collagen VI-related myopathy [RCV000393008]|not provided [RCV000726530] Chr21:46003783 [GRCh38]
Chr21:47423697 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) single nucleotide variant Collagen VI-related myopathy [RCV000402658]|not provided [RCV000398156] Chr21:45994180 [GRCh38]
Chr21:47414094 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
NM_001848.2(COL6A1):c.1003-2A>G single nucleotide variant Bethlem myopathy 1 [RCV001051037]|Myopathy [RCV000194464] Chr21:45990771 [GRCh38]
Chr21:47410685 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1603G>A (p.Gly535Arg) single nucleotide variant Bethlem myopathy 1 [RCV000402786]|not provided [RCV000293620] Chr21:45998425 [GRCh38]
Chr21:47418339 [GRCh37]
Chr21:21q22.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) single nucleotide variant Bethlem myopathy 1 [RCV001081636]|Collagen VI-related myopathy [RCV000294194]|not provided [RCV000397306] Chr21:45992380 [GRCh38]
Chr21:47412294 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) single nucleotide variant Bethlem myopathy 1 [RCV001087333]|Collagen VI-related myopathy [RCV000295436]|not provided [RCV000309967] Chr21:46002631 [GRCh38]
Chr21:47422545 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.3(COL6A1):c.1095_1096inv (p.Ala366Thr) inversion Bethlem myopathy 1 [RCV000546227] Chr21:45991017..45991018 [GRCh38]
Chr21:47410931..47410932 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.880C>G (p.Pro294Ala) single nucleotide variant Bethlem myopathy 1 [RCV000547261] Chr21:45989629 [GRCh38]
Chr21:47409543 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.931-5C>T single nucleotide variant Bethlem myopathy 1 [RCV001087867]|Collagen VI-related myopathy [RCV000301433]|not provided [RCV000370175] Chr21:45990253 [GRCh38]
Chr21:47410167 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1729G>A (p.Glu577Lys) single nucleotide variant Bethlem myopathy 1 [RCV000548379] Chr21:45999207 [GRCh38]
Chr21:47419121 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) single nucleotide variant Bethlem myopathy 1 [RCV001079041]|Collagen VI-related myopathy [RCV000272761]|not provided [RCV000401661] Chr21:45991037 [GRCh38]
Chr21:47410951 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.904G>A (p.Gly302Arg) single nucleotide variant not provided [RCV000489958] Chr21:45989752 [GRCh38]
Chr21:47409666 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) single nucleotide variant Bethlem myopathy 1 [RCV000530252]|Collagen VI-related myopathy [RCV000265155]|not specified [RCV000294406] Chr21:46003548 [GRCh38]
Chr21:47423462 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) single nucleotide variant Bethlem myopathy 1 [RCV000548930]|Collagen VI-related myopathy [RCV000280526]|not specified [RCV000403757] Chr21:45992773 [GRCh38]
Chr21:47412687 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) single nucleotide variant Bethlem myopathy 1 [RCV000653553]|Collagen VI-related myopathy [RCV000267314]|not provided [RCV000725393]|not specified [RCV000323225] Chr21:45990813 [GRCh38]
Chr21:47410727 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) single nucleotide variant Bethlem myopathy 1 [RCV001087125]|Collagen VI-related myopathy [RCV000365714]|not provided [RCV000317171] Chr21:46003563 [GRCh38]
Chr21:47423477 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) single nucleotide variant Bethlem myopathy 1 [RCV000546868]|Collagen VI-related myopathy [RCV000365797]|not specified [RCV000335163] Chr21:46003955 [GRCh38]
Chr21:47423869 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1399-3C>T single nucleotide variant Bethlem myopathy 1 [RCV001037986]|Collagen VI-related myopathy [RCV000366066]|not provided [RCV000724951]|not specified [RCV000308987] Chr21:45997418 [GRCh38]
Chr21:47417332 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) single nucleotide variant Bethlem myopathy 1 [RCV000821708]|Collagen VI-related myopathy [RCV000368419]|not provided [RCV000330732] Chr21:45998151 [GRCh38]
Chr21:47418065 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.2343G>A (p.Gln781=) single nucleotide variant Bethlem myopathy 1 [RCV000550966] Chr21:46002619 [GRCh38]
Chr21:47422533 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2638G>A (p.Gly880Ser) single nucleotide variant not provided [RCV000559950] Chr21:46003564 [GRCh38]
Chr21:47423478 [GRCh37]
Chr21:21q22.3
benign
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1 copy number loss Ductal breast carcinoma [RCV000207179] Chr21:45850091..46137287 [GRCh38]
Chr21:47270005..47557201 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1399-8C>G single nucleotide variant not provided [RCV000592205] Chr21:45997413 [GRCh38]
Chr21:47417327 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
chr21:45970718..47545826 complex variant complex Ductal breast carcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1716del (p.Tyr573fs) deletion not specified [RCV000233148] Chr21:45999191 [GRCh38]
Chr21:47419105 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.1425del (p.Gly476fs) deletion not provided [RCV000255364]|not specified [RCV000228165] Chr21:45997445 [GRCh38]
Chr21:47417359 [GRCh37]
Chr21:21q22.3
pathogenic|likely pathogenic|uncertain significance
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) single nucleotide variant Bethlem myopathy 1 [RCV001089272]|Collagen VI-related myopathy [RCV000359853]|not provided [RCV000363076] Chr21:46003521 [GRCh38]
Chr21:47423435 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) single nucleotide variant Bethlem myopathy 1 [RCV001206342]|Collagen VI-related myopathy [RCV000326450]|not provided [RCV000296391] Chr21:46003588 [GRCh38]
Chr21:47423502 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.1837C>A (p.Pro613Thr) single nucleotide variant Bethlem myopathy 1 [RCV001209850]|not provided [RCV000595806] Chr21:46001267 [GRCh38]
Chr21:47421181 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu) single nucleotide variant Collagen VI-related myopathy [RCV000329027]|not provided [RCV000285506] Chr21:46002307 [GRCh38]
Chr21:47422221 [GRCh37]
Chr21:21q22.3
likely benign|uncertain significance
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1022G>T (p.Gly341Val) single nucleotide variant Bethlem myopathy 1 [RCV000267474]|not provided [RCV000521707] Chr21:45990792 [GRCh38]
Chr21:47410706 [GRCh37]
Chr21:21q22.3
pathogenic
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn) single nucleotide variant Bethlem myopathy 1 [RCV000819830]|Collagen VI-related myopathy [RCV000332382]|not provided [RCV000302645] Chr21:45998149 [GRCh38]
Chr21:47418063 [GRCh37]
Chr21:21q22.3
benign|uncertain significance
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=) single nucleotide variant Collagen VI-related myopathy [RCV000338301]|not provided [RCV000405073] Chr21:46003719 [GRCh38]
Chr21:47423633 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001848.2(COL6A1):c.2250+6G>C single nucleotide variant Bethlem myopathy 1 [RCV000533751]|Collagen VI-related myopathy [RCV000344297]|not specified [RCV000353872] Chr21:46002407 [GRCh38]
Chr21:47422321 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) single nucleotide variant Bethlem myopathy 1 [RCV001054436]|Collagen VI-related myopathy [RCV000344836]|not provided [RCV000384249] Chr21:45987511 [GRCh38]
Chr21:47407425 [GRCh37]
Chr21:21q22.3
benign|likely benign|uncertain significance
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) single nucleotide variant Collagen VI-related myopathy [RCV000309226]|not provided [RCV000368701] Chr21:45984302 [GRCh38]
Chr21:47404216 [GRCh37]
Chr21:21q22.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.3(COL6A1):c.739-11del deletion not specified [RCV000601163] Chr21:45987486 [GRCh38]
Chr21:47407400 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_001848.2(COL6A1):c.1611+48C>T single nucleotide variant not specified [RCV000248605] Chr21:45998481 [GRCh38]
Chr21:47418395 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) single nucleotide variant Bethlem myopathy 1 [RCV000539508]|Collagen VI-related myopathy [RCV000362678]|not specified [RCV000251304] Chr21:45997744 [GRCh38]
Chr21:47417658 [GRCh37]
Chr21:21q22.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_001848.2(COL6A1):c.805-36G>A single nucleotide variant not specified [RCV000253731] Chr21:45989048 [GRCh38]
Chr21:47408962 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.931-4G>A single nucleotide variant not specified [RCV000246515] Chr21:45990254 [GRCh38]
Chr21:47410168 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) single nucleotide variant Bethlem myopathy 1 [RCV000550561]|Collagen VI-related myopathy [RCV000316431]|not specified [RCV000251409] Chr21:45986676 [GRCh38]
Chr21:47406590 [GRCh37]
Chr21:21q22.3
benign|likely benign
NM_001848.2(COL6A1):c.2464+11C>T single nucleotide variant not specified [RCV000241704] Chr21:46003160 [GRCh38]
Chr21:47423074 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.930+30T>C single nucleotide variant not specified [RCV000241719] Chr21:45989808 [GRCh38]
Chr21:47409722 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1336-17G>A single nucleotide variant not specified [RCV000244305] Chr21:45994150 [GRCh38]
Chr21:47414064 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.429-30C>T single nucleotide variant not specified [RCV000246659] Chr21:45986496 [GRCh38]
Chr21:47406410 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.2464+18C>T single nucleotide variant not specified [RCV000246731] Chr21:46003167 [GRCh38]
Chr21:47423081 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.2418C>T (p.Thr806=) single nucleotide variant Bethlem myopathy 1 [RCV001078632]|not provided [RCV000725002]|not specified [RCV000254096] Chr21:46002694 [GRCh38]
Chr21:47422608 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.717+33G>A single nucleotide variant not specified [RCV000249253] Chr21:45987105 [GRCh38]
Chr21:47407019 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.2709C>T (p.Ala903=) single nucleotide variant not provided [RCV000726190]|not specified [RCV000254253] Chr21:46003635 [GRCh38]
Chr21:47423549 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_001848.2(COL6A1):c.2480C>T (p.Pro827Leu) single nucleotide variant not specified [RCV000242029] Chr21:46003406 [GRCh38]
Chr21:47423320 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.2512G>A (p.Ala838Thr) single nucleotide variant not provided [RCV000766392]|not specified [RCV000247019] Chr21:46003438 [GRCh38]
Chr21:47423352 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.2192G>A (p.Arg731His) single nucleotide variant not provided [RCV000522474] Chr21:46002343 [GRCh38]
Chr21:47422257 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_001848.2(COL6A1):c.-8C>A single nucleotide variant not specified [RCV000249873] Chr21:45981843 [GRCh38]
Chr21:47401757 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1674+15G>A single nucleotide variant not specified [RCV000242604] Chr21:45998974 [GRCh38]
Chr21:47418888 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.930+14G>A single nucleotide variant not specified [RCV000249956] Chr21:45989792 [GRCh38]
Chr21:47409706 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.1611+20C>T single nucleotide variant not specified [RCV000245294] Chr21:45998453 [GRCh38]
Chr21:47418367 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.993C>T (p.Asp331=) single nucleotide variant Bethlem myopathy 1 [RCV001088716]|not provided [RCV000725103]|not specified [RCV000252571] Chr21:45990413 [GRCh38]
Chr21:47410327 [GRCh37]
Chr21:21q22.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001848.2(COL6A1):c.1776+13C>T single nucleotide variant Collagen VI-related myopathy [RCV000290039]|not specified [RCV000247891] Chr21:45999705 [GRCh38]
Chr21:47419619 [GRCh37]
Chr21:21q22.3
likely benign
NM_001848.2(COL6A1):c.97+20G>A single nucleotide variant not specified [RCV000243036] Chr21:45981967 [GRCh38]
Chr21:47401881 [GRCh37]
Chr21:21q22.3
benign
NM_001848.2(COL6A1):c.423C>T (p.Leu141=) single nucleotide variant Bethlem myopathy 1 [RCV000525643]|not provided [