COL6A2 (collagen type VI alpha 2 chain) - Rat Genome Database

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Gene: COL6A2 (collagen type VI alpha 2 chain) Homo sapiens
Analyze
Symbol: COL6A2
Name: collagen type VI alpha 2 chain
RGD ID: 1313701
HGNC Page HGNC:2212
Description: Enables collagen binding activity. Predicted to be involved in cell adhesion and response to glucose. 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 region. Part of protein-containing complex. Implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BTHLM1; BTHLM1B; collagen alpha-2(VI) chain; collagen type VI alpha 2; collagen VI, alpha-2 polypeptide; collagen, type VI, alpha 2; DKFZp586E1322; FLJ46862; human mRNA for collagen VI alpha-2 C-terminal globular domain; PP3610; UCMD1; UCMD1B
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
GRCh382146,098,112 - 46,132,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,098,112 - 46,132,848 (+)EnsemblGRCh38hg38GRCh38
GRCh372147,518,026 - 47,552,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,342,461 - 46,377,191 (+)NCBINCBI36Build 36hg18NCBI36
Build 342146,342,469 - 46,374,147NCBI
Celera2132,629,797 - 32,665,343 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,899,133 - 32,933,853 (+)NCBIHuRef
CHM1_12147,078,809 - 47,113,491 (+)NCBICHM1_1
T2T-CHM13v2.02144,476,193 - 44,510,935 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bucladesine  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cantharidin  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (ISO)
clothianidin  (EXP)
clotrimazole  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
cytarabine  (EXP)
D-glucose  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
disodium selenite  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
glucose  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
lead diacetate  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (ISO)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
N-nitrosodiethylamine  (ISO)
niclosamide  (EXP)
oxaliplatin  (ISO)
paclitaxel  (EXP)
paracetamol  (ISO)
pentane-2,3-dione  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenytoin  (EXP)
pirinixic acid  (ISO)
propanal  (EXP)
Ptaquiloside  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
testosterone enanthate  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (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 brainstem MRI signal intensity  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal muscle fiber morphology  (IAGP)
Abnormal palate morphology  (IAGP)
Abnormal thalamic MRI signal intensity  (IAGP)
Abnormality of skeletal muscle fiber size  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the respiratory system  (IAGP)
Achilles tendon contracture  (IAGP)
Adducted thumb  (IAGP)
Adult onset  (IAGP)
Ankle contracture  (IAGP)
Ankle flexion contracture  (IAGP)
Antenatal onset  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Bone marrow hypocellularity  (IAGP)
Camptodactyly of finger  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Cerebral venous thrombosis  (IAGP)
Childhood onset  (IAGP)
Cigarette-paper scars  (IAGP)
Combined immunodeficiency  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Curved toe phalanx  (IAGP)
Decreased fetal movement  (IAGP)
Delayed ability to walk  (IAGP)
Diaphragmatic weakness  (IAGP)
Distal muscle weakness  (IAGP)
Elbow contracture  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Esodeviation  (IAGP)
Esotropia  (IAGP)
Facial palsy  (IAGP)
Falls  (IAGP)
Fatigue  (IAGP)
Finger joint hypermobility  (IAGP)
Flexion contracture  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Frequent falls  (IAGP)
Gait disturbance  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gowers sign  (IAGP)
High palate  (IAGP)
Hip contracture  (IAGP)
Hip dislocation  (IAGP)
Hip flexor weakness  (IAGP)
Hyperextensible hand joints  (IAGP)
Hyperkeratosis  (IAGP)
Hypertonia  (IAGP)
Hypotonia  (IAGP)
Hypoventilation  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased laxity of fingers  (IAGP)
Increased muscle lipid content  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Interphalangeal joint contracture of finger  (IAGP)
Joint hypermobility  (IAGP)
Keratosis pilaris  (IAGP)
Knee contracture  (IAGP)
Knee flexion contracture  (IAGP)
Kyphosis  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Long fingers  (IAGP)
Long toe  (IAGP)
Lumbar hyperlordosis  (IAGP)
Micrognathia  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle fiber necrosis  (IAGP)
Muscle fiber splitting  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myelitis  (IAGP)
Myopathy  (IAGP)
Neck flexor weakness  (IAGP)
Neck joint contracture  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal onset  (IAGP)
Neurogenic bladder  (IAGP)
Pes valgus  (IAGP)
Progressive  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Proximal muscle weakness  (IAGP)
Quadriceps muscle weakness  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Reduced forced vital capacity  (IAGP)
Reduced maximal expiratory pressure  (IAGP)
Reduced muscle collagen VI  (IAGP)
Respiratory failure  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Shoulder contracture  (IAGP)
Skeletal muscle atrophy  (IAGP)
Slender finger  (IAGP)
Spastic gait  (IAGP)
Spasticity  (IAGP)
Spinal rigidity  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Tip-toe gait  (IAGP)
Torticollis  (IAGP)
Waddling gait  (IAGP)
Wrist flexion contracture  (IAGP)
Wrist hypermobility  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Jobsis GJ, etal., Nat Genet. 1996 Sep;14(1):113-5.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Type VI collagen gene expression in experimental liver fibrosis: quantitation and spatial distribution of mRNAs, and immunodetection of the protein. Takahara T, etal., Liver. 1995 Apr;15(2):78-86.
10. Transcriptome analysis of bronchoalveolar lavage fluid from children with severe Mycoplasma pneumoniae pneumonia reveals novel gene expression and immunodeficiency. Wang K, etal., Hum Genomics. 2017 Mar 16;11(1):4. doi: 10.1186/s40246-017-0101-y.
11. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1544908   PMID:1556127   PMID:1602151   PMID:1690728   PMID:1765372   PMID:2551668   PMID:3198591   PMID:3348212   PMID:3665927   PMID:6852033   PMID:8168508   PMID:8305732  
PMID:9099729   PMID:9334230   PMID:10830953   PMID:11381124   PMID:11865138   PMID:12011280   PMID:12176987   PMID:12218063   PMID:12297580   PMID:12374585   PMID:12477932   PMID:12812986  
PMID:12840783   PMID:14702039   PMID:14981181   PMID:15146197   PMID:15489334   PMID:15563506   PMID:16075202   PMID:16141002   PMID:17602442   PMID:18029348   PMID:18366090   PMID:18400749  
PMID:18852439   PMID:19199708   PMID:19204726   PMID:19299420   PMID:19309692   PMID:19698785   PMID:20106987   PMID:20301468   PMID:20301676   PMID:20302629   PMID:20551380   PMID:21873635  
PMID:21988832   PMID:22261194   PMID:23138527   PMID:23452080   PMID:23658023   PMID:23686814   PMID:23869615   PMID:24443028   PMID:24769233   PMID:24801232   PMID:25037231   PMID:25204870  
PMID:25533456   PMID:26186194   PMID:26944560   PMID:27068509   PMID:27559042   PMID:27563703   PMID:28327460   PMID:28344315   PMID:28514442   PMID:28675934   PMID:29656893   PMID:29872149  
PMID:30021884   PMID:32053901   PMID:32350230   PMID:33537799   PMID:33961781   PMID:33982770   PMID:36215168   PMID:36292982   PMID:36521657   PMID:36982625   PMID:38777146   PMID:38860406  


Genomics

Comparative Map Data
COL6A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382146,098,112 - 46,132,848 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2146,098,112 - 46,132,848 (+)EnsemblGRCh38hg38GRCh38
GRCh372147,518,026 - 47,552,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362146,342,461 - 46,377,191 (+)NCBINCBI36Build 36hg18NCBI36
Build 342146,342,469 - 46,374,147NCBI
Celera2132,629,797 - 32,665,343 (+)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2132,899,133 - 32,933,853 (+)NCBIHuRef
CHM1_12147,078,809 - 47,113,491 (+)NCBICHM1_1
T2T-CHM13v2.02144,476,193 - 44,510,935 (+)NCBIT2T-CHM13v2.0
Col6a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391076,431,590 - 76,459,464 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1076,431,596 - 76,459,464 (-)EnsemblGRCm39 Ensembl
GRCm381076,595,756 - 76,623,630 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1076,595,762 - 76,623,630 (-)EnsemblGRCm38mm10GRCm38
MGSCv371076,058,501 - 76,086,149 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361076,039,478 - 76,067,030 (-)NCBIMGSCv36mm8
Celera1077,640,875 - 77,668,353 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.32NCBI
Col6a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,021,182 - 12,048,932 (+)NCBIGRCr8
mRatBN7.22012,021,676 - 12,049,425 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,021,767 - 12,057,564 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2012,718,053 - 12,745,716 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02012,078,971 - 12,106,636 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02012,550,765 - 12,578,421 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02012,773,472 - 12,801,179 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2012,773,427 - 12,801,180 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02014,931,484 - 14,959,214 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42012,436,783 - 12,464,512 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12012,445,140 - 12,461,566 (+)NCBI
Celera2013,520,111 - 13,547,903 (+)NCBICelera
Cytogenetic Map20p12NCBI
Col6a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540742,575,170 - 42,600,495 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540742,575,677 - 42,600,967 (+)NCBIChiLan1.0ChiLan1.0
COL6A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22242,198,729 - 42,234,261 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12137,070,722 - 37,105,973 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02132,442,859 - 32,478,076 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12145,696,865 - 45,731,192 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2145,710,491 - 45,730,895 (+)Ensemblpanpan1.1panPan2
COL6A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13139,433,174 - 39,448,051 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3138,644,112 - 38,676,023 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03139,056,885 - 39,089,141 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3139,056,960 - 39,089,152 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13138,918,380 - 38,950,842 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03138,893,797 - 38,911,284 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03139,397,110 - 39,429,683 (+)NCBIUU_Cfam_GSD_1.0
Col6a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497138,700,077 - 38,735,225 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936778394,953 - 430,113 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936778394,985 - 430,070 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL6A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.213218,600,867 - 218,616,309 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COL6A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1289,724,355 - 89,758,389 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl289,737,003 - 89,758,425 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605418,038,715 - 18,072,843 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col6a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474531,258,825 - 31,272,524 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474531,246,458 - 31,272,403 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL6A2
1815 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) single nucleotide variant Bethlem myopathy 1A [RCV000547454] Chr21:46132265 [GRCh38]
Chr21:47552179 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) single nucleotide variant Bethlem myopathy 1A [RCV000548034]|not provided [RCV000595329] Chr21:46132496 [GRCh38]
Chr21:47552410 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1459-2A>G single nucleotide variant Bethlem myopathy 1A [RCV000550156]|Ullrich congenital muscular dystrophy 1B [RCV003767089] Chr21:46121554 [GRCh38]
Chr21:47541468 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) single nucleotide variant Bethlem myopathy 1A [RCV000558700] Chr21:46126149 [GRCh38]
Chr21:47546063 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) single nucleotide variant Bethlem myopathy 1A [RCV000541866] Chr21:46117898 [GRCh38]
Chr21:47537812 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1000-6C>T single nucleotide variant Bethlem myopathy 1A [RCV001422406] Chr21:46117394 [GRCh38]
Chr21:47537308 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) microsatellite Bethlem myopathy 1A [RCV003517217]|not provided [RCV000523676] Chr21:46122915..46122916 [GRCh38]
Chr21:47542829..47542830 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) single nucleotide variant Bethlem myopathy 1A [RCV003517219]|not provided [RCV000522324] Chr21:46125863 [GRCh38]
Chr21:47545777 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1856_1861del (p.Val619_Ile620del) deletion Ullrich congenital muscular dystrophy 1B [RCV003764644] Chr21:46125501..46125506 [GRCh38]
Chr21:47545415..47545420 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1771-1G>T single nucleotide variant Ullrich congenital muscular dystrophy 1B [RCV003764645] Chr21:46125265 [GRCh38]
Chr21:47545179 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) single nucleotide variant Bethlem myopathy 1A [RCV000822059]|Ullrich congenital muscular dystrophy 1B [RCV003764618]|not provided [RCV000726381] Chr21:46125518 [GRCh38]
Chr21:47545432 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_001849.4(COL6A2):c.2626C>A (p.Arg876Ser) single nucleotide variant Ullrich congenital muscular dystrophy 1B [RCV003764619] Chr21:46132118 [GRCh38]
Chr21:47552032 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter) single nucleotide variant BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE [RCV003764621]|Bethlem myopathy 1A [RCV000796659]|not provided [RCV000254747] Chr21:46117916 [GRCh38]
Chr21:47537830 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn) single nucleotide variant BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE [RCV003764622]|Bethlem myopathy 1A [RCV001054018]|Collagen 6-related myopathy [RCV000778644]|not provided [RCV000591047] Chr21:46132103 [GRCh38]
Chr21:47552017 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser) single nucleotide variant Bethlem myopathy 1A [RCV000018695]|Bethlem myopathy 1B [RCV003764593]|not provided [RCV001781280] Chr21:46115881 [GRCh38]
Chr21:47535795 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1151dup (p.Glu386fs) duplication Ullrich congenital muscular dystrophy 1B [RCV003764594] Chr21:46118643..46118644 [GRCh38]
Chr21:47538557..47538558 [GRCh37]
Chr21:21q22.3		 pathogenic
COL6A2, IVS17AS, A-G, -2 single nucleotide variant Ullrich congenital muscular dystrophy 1 [RCV000018697] Chr21:21q22.3 pathogenic
NM_001849.4(COL6A2):c.1771-1G>A single nucleotide variant Ullrich congenital muscular dystrophy 1B [RCV003764595] Chr21:46125265 [GRCh38]
Chr21:47545179 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn) single nucleotide variant Bethlem myopathy 1A [RCV000018699]|Bethlem myopathy 1B [RCV004574029]|not provided [RCV000725485] Chr21:46125509 [GRCh38]
Chr21:47545423 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.1488_1513del (p.Arg498fs) deletion Ullrich congenital muscular dystrophy 1B [RCV003764596] Chr21:46121584..46121609 [GRCh38]
Chr21:47541498..47541523 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1117-10A>G single nucleotide variant Ullrich congenital muscular dystrophy 1B [RCV003764597] Chr21:46118604 [GRCh38]
Chr21:47538518 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.801+631_882del deletion Ullrich congenital muscular dystrophy 1B [RCV003764598] Chr21:46114704..46116035 [GRCh38]
Chr21:47534618..47535949 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1000-2A>G single nucleotide variant Bethlem myopathy 1A [RCV000018703]|Bethlem myopathy 1B [RCV003764599] Chr21:46117398 [GRCh38]
Chr21:47537312 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) single nucleotide variant Bethlem myopathy 1A [RCV000018704]|Bethlem myopathy 1A [RCV000993564]|Bethlem myopathy 1B [RCV003764600]|COL6A2-related disorder [RCV004532388]|Collagen 6-related myopathy [RCV000359356]|Myosclerosis [RCV000302217]|not provided [RCV000859498]|not specified [RCV000149938] Chr21:46132287 [GRCh38]
Chr21:47552201 [GRCh37]
Chr21:21q22.3		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter) single nucleotide variant BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE [RCV003764601]|Bethlem myopathy 1A [RCV001327989]|Myosclerosis [RCV000018705]|not provided [RCV000480797] Chr21:46126535 [GRCh38]
Chr21:47546449 [GRCh37]
Chr21:21q22.3		 pathogenic|not provided
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) single nucleotide variant Bethlem myopathy 1A [RCV000529271]|Ullrich congenital muscular dystrophy 1B [RCV003764602]|not provided [RCV001091900] Chr21:46126144 [GRCh38]
Chr21:47546058 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg) single nucleotide variant Bethlem myopathy 1A [RCV000816890]|Ullrich congenital muscular dystrophy 1B [RCV003764603]|not provided [RCV000269898] Chr21:46115917 [GRCh38]
Chr21:47535831 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His) single nucleotide variant Bethlem myopathy 1A [RCV000653500]|Collagen 6-related myopathy [RCV001138980]|Myosclerosis [RCV001138981]|Ullrich congenital muscular dystrophy 1B [RCV003764604]|not provided [RCV000710888] Chr21:46121590 [GRCh38]
Chr21:47541504 [GRCh37]
Chr21:21q22.3		 pathogenic|likely benign|uncertain significance
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) single nucleotide variant Bethlem myopathy 1A [RCV001217548]|Muscle weakness [RCV000735341]|not provided [RCV003144579] Chr21:46125823 [GRCh38]
Chr21:47545737 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.123C>T (p.Thr41=) single nucleotide variant Bethlem myopathy 1A [RCV001500123]|not provided [RCV000729693] Chr21:46111986 [GRCh38]
Chr21:47531900 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1606G>A (p.Glu536Lys) single nucleotide variant Bethlem myopathy 1A [RCV001085505]|Collagen 6-related myopathy [RCV001141593]|not provided [RCV000594262] Chr21:46122529 [GRCh38]
Chr21:47542443 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1518C>T (p.Pro506=) single nucleotide variant Bethlem myopathy 1A [RCV000551069] Chr21:46121615 [GRCh38]
Chr21:47541529 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.115+2T>C single nucleotide variant Bethlem myopathy 1A [RCV000554332]|Collagen 6-related myopathy [RCV000779359]|not provided [RCV003318594] Chr21:46111593 [GRCh38]
Chr21:47531507 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) single nucleotide variant Bethlem myopathy 1A [RCV000558910] Chr21:46112350 [GRCh38]
Chr21:47532264 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2883G>A (p.Ala961=) single nucleotide variant Bethlem myopathy 1A [RCV001392673]|not provided [RCV000727582] Chr21:46132375 [GRCh38]
Chr21:47552289 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1970-7_1981dup duplication not specified [RCV000519015] Chr21:46125775..46125776 [GRCh38]
Chr21:47545689..47545690 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1671+9_1671+10inv inversion Bethlem myopathy 1A [RCV001416108] Chr21:46122946..46122947 [GRCh38]
Chr21:47542860..47542861 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) single nucleotide variant Bethlem myopathy 1A [RCV000559454] Chr21:46116016 [GRCh38]
Chr21:47535930 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1921G>A (p.Val641Met) single nucleotide variant Bethlem myopathy 1A [RCV000560104] Chr21:46125569 [GRCh38]
Chr21:47545483 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.3024C>T (p.Pro1008=) single nucleotide variant Bethlem myopathy 1A [RCV001401856]|not provided [RCV000728002] Chr21:46132516 [GRCh38]
Chr21:47552430 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2293G>A (p.Glu765Lys) single nucleotide variant Bethlem myopathy 1A [RCV000800070]|not provided [RCV000729358] Chr21:46126108 [GRCh38]
Chr21:47546022 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) single nucleotide variant Bethlem myopathy 1A [RCV000554954]|Ullrich congenital muscular dystrophy 1A [RCV004546523]|not provided [RCV000594605] Chr21:46112030 [GRCh38]
Chr21:47531944 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) single nucleotide variant Bethlem myopathy 1A [RCV000544314]|not provided [RCV004722919] Chr21:46132397 [GRCh38]
Chr21:47552311 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) single nucleotide variant Bethlem myopathy 1A [RCV001050083]|not provided [RCV000520439] Chr21:46132188 [GRCh38]
Chr21:47552102 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln) single nucleotide variant Bethlem myopathy 1A [RCV001084615]|not provided [RCV000730361] Chr21:46112207 [GRCh38]
Chr21:47532121 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.624G>A (p.Pro208=) single nucleotide variant Bethlem myopathy 1A [RCV000557336]|COL6A2-related disorder [RCV004543242]|not provided [RCV001562433] Chr21:46112487 [GRCh38]
Chr21:47532401 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) single nucleotide variant Bethlem myopathy 1A [RCV000546141] Chr21:46115897 [GRCh38]
Chr21:47535811 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.3019C>G (p.Gln1007Glu) single nucleotide variant not provided [RCV000519278] Chr21:46132511 [GRCh38]
Chr21:47552425 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp) single nucleotide variant not provided [RCV000050246] Chr21:46115873 [GRCh38]
Chr21:47535787 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
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 21q22.12-22.3(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_001849.4(COL6A2):c.1116+22C>T single nucleotide variant not specified [RCV000079838] Chr21:46117958 [GRCh38]
Chr21:47537872 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1116+32G>A single nucleotide variant Bethlem myopathy 1A [RCV001664306]|Myosclerosis [RCV001664307]|Ullrich congenital muscular dystrophy 1A [RCV001664308]|not provided [RCV000838854]|not specified [RCV000079839] Chr21:46117968 [GRCh38]
Chr21:46117968..46117969 [GRCh38]
Chr21:47537882 [GRCh37]
Chr21:47537882..47537883 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.116-34G>A single nucleotide variant not provided [RCV004703221]|not specified [RCV000079840] Chr21:46111945 [GRCh38]
Chr21:47531859 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1161C>T (p.Ile387=) single nucleotide variant Bethlem myopathy 1A [RCV001082236]|Collagen 6-related myopathy [RCV000376556]|Myosclerosis [RCV000267913]|not provided [RCV000530351]|not specified [RCV000248854] Chr21:46118658 [GRCh38]
Chr21:47538572 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn) single nucleotide variant Bethlem myopathy 1A [RCV001516828]|Collagen 6-related myopathy [RCV000323060]|Myosclerosis [RCV000382221]|Ullrich congenital muscular dystrophy 1A [RCV001664309]|not provided [RCV004713224]|not specified [RCV000079842] Chr21:46119046 [GRCh38]
Chr21:47538960 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1251C>T (p.Arg417=) single nucleotide variant Bethlem myopathy 1A [RCV000542813]|Bethlem myopathy 1A [RCV002498404]|COL6A2-related disorder [RCV004542760]|Collagen 6-related myopathy [RCV000287747]|Myosclerosis [RCV000328820]|not provided [RCV001531977]|not specified [RCV000079843] Chr21:46119101 [GRCh38]
Chr21:47539015 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.1332+26A>G single nucleotide variant Bethlem myopathy 1A [RCV001664310]|Myosclerosis [RCV001664311]|Ullrich congenital muscular dystrophy 1A [RCV001664312]|not provided [RCV000838851]|not specified [RCV000079844] Chr21:46119876 [GRCh38]
Chr21:47539790 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1333-8T>C single nucleotide variant Bethlem myopathy 1A [RCV001521301]|Collagen 6-related myopathy [RCV000335681]|Myosclerosis [RCV000294497]|not provided [RCV004713225]|not specified [RCV000079845] Chr21:46120507 [GRCh38]
Chr21:47540421 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1461del (p.Ser488fs) deletion Bethlem myopathy 1A [RCV001231224]|Ullrich congenital muscular dystrophy 1A [RCV002515767]|not provided [RCV000599098] Chr21:46121558 [GRCh38]
Chr21:47541472 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.1521+21A>G single nucleotide variant not provided [RCV000839972]|not specified [RCV000079847] Chr21:46121639 [GRCh38]
Chr21:47541553 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1522-1G>A single nucleotide variant not provided [RCV000175422] Chr21:46122107 [GRCh38]
Chr21:47542021 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1522-36T>C single nucleotide variant not provided [RCV000839980]|not specified [RCV000079849] Chr21:46122072 [GRCh38]
Chr21:47541986 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) single nucleotide variant Bethlem myopathy 1A [RCV001082248]|Collagen 6-related myopathy [RCV000366671]|Myosclerosis [RCV000271630]|not provided [RCV000710889]|not specified [RCV000079850] Chr21:46122138 [GRCh38]
Chr21:47542052 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.1573-32C>T single nucleotide variant not provided [RCV000839982]|not specified [RCV000079851] Chr21:46122464 [GRCh38]
Chr21:47542378 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1609-10C>T single nucleotide variant Bethlem myopathy 1A [RCV001521302]|Collagen 6-related myopathy [RCV000373658]|Myosclerosis [RCV000278965]|not provided [RCV004713226]|not specified [RCV000079852] Chr21:46122865 [GRCh38]
Chr21:47542779 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.1671+10A>G single nucleotide variant Bethlem myopathy 1A [RCV001516829]|Collagen 6-related myopathy [RCV000339110]|Myosclerosis [RCV000284926]|Ullrich congenital muscular dystrophy 1A [RCV001664313]|not provided [RCV004713227]|not specified [RCV000079853] Chr21:46122947 [GRCh38]
Chr21:47542861 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.1671+9C>T single nucleotide variant Bethlem myopathy 1A [RCV000894495]|COL6A2-related disorder [RCV004542761]|not specified [RCV000079854] Chr21:46122946 [GRCh38]
Chr21:47542860 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1672-24C>G single nucleotide variant Bethlem myopathy 1A [RCV001664314]|Myosclerosis [RCV001664315]|Ullrich congenital muscular dystrophy 1A [RCV001664316]|not provided [RCV000838868]|not specified [RCV000079855] Chr21:46124627 [GRCh38]
Chr21:47544541 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1672-37G>T single nucleotide variant not provided [RCV000839988]|not specified [RCV000079856] Chr21:46124614 [GRCh38]
Chr21:47544528 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1734+35A>G single nucleotide variant not provided [RCV000839990]|not specified [RCV000079857] Chr21:46124748 [GRCh38]
Chr21:47544662 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1735-30A>G single nucleotide variant not provided [RCV000838857]|not specified [RCV000079858] Chr21:46124855 [GRCh38]
Chr21:47544769 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1769C>T (p.Thr590Met) single nucleotide variant Bethlem myopathy 1A [RCV001086666]|COL6A2-related disorder [RCV004537332]|Collagen 6-related myopathy [RCV000370549]|Myosclerosis [RCV000276065]|not provided [RCV000658928]|not specified [RCV000079859] Chr21:46124919 [GRCh38]
Chr21:47544833 [GRCh37]
Chr21:21q22.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1770+4G>A single nucleotide variant Bethlem myopathy 1A [RCV001521670]|Collagen 6-related myopathy [RCV000317183]|Myosclerosis [RCV000371874]|not provided [RCV000710890]|not specified [RCV000079860] Chr21:46124924 [GRCh38]
Chr21:47544838 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1771-25A>G single nucleotide variant Bethlem myopathy 1A [RCV001664317]|Myosclerosis [RCV001664318]|Ullrich congenital muscular dystrophy 1A [RCV001664319]|not provided [RCV000838859]|not specified [RCV000079861] Chr21:46125241 [GRCh38]
Chr21:47545155 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1816+18del deletion Bethlem myopathy 1A [RCV002055144]|not provided [RCV000838559]|not specified [RCV000079862] Chr21:46125328 [GRCh38]
Chr21:47545242 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1817-33C>T single nucleotide variant not provided [RCV000841589]|not specified [RCV000079863] Chr21:46125432 [GRCh38]
Chr21:47545346 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1817-3dup duplication Bethlem myopathy 1A [RCV000990367]|Collagen 6-related myopathy [RCV000318558]|Myosclerosis [RCV000263416]|not provided [RCV000839263]|not specified [RCV000079864] Chr21:46125455..46125456 [GRCh38]
Chr21:47545369..47545370 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.1970-23G>C single nucleotide variant not provided [RCV000841590]|not specified [RCV000079865] Chr21:46125762 [GRCh38]
Chr21:47545676 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1970-3C>A single nucleotide variant Bethlem myopathy 1A [RCV000709829]|Bethlem myopathy 1A [RCV001084118]|Collagen 6-related myopathy [RCV000300588]|Myosclerosis [RCV000259240]|Tip-toe gait [RCV003319318]|not provided [RCV000415855] Chr21:46125782 [GRCh38]
Chr21:47545696 [GRCh37]
Chr21:21q22.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001849.4(COL6A2):c.1998C>G (p.Ser666Arg) single nucleotide variant not provided [RCV000079867] Chr21:46125813 [GRCh38]
Chr21:47545727 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His) single nucleotide variant Bethlem myopathy 1A [RCV000990369]|Collagen 6-related myopathy [RCV000380396]|Myosclerosis [RCV000320471]|Ullrich congenital muscular dystrophy 1A [RCV001664320]|not provided [RCV000710891]|not specified [RCV000079868] Chr21:46125854 [GRCh38]
Chr21:46125854..46125855 [GRCh38]
Chr21:47545768 [GRCh37]
Chr21:47545768..47545769 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2094G>A (p.Ala698=) single nucleotide variant Bethlem myopathy 1A [RCV001520876]|Collagen 6-related myopathy [RCV000267217]|Myosclerosis [RCV000327020]|Ullrich congenital muscular dystrophy 1A [RCV001664321]|not provided [RCV000710892]|not specified [RCV000079869] Chr21:46125909 [GRCh38]
Chr21:46125909..46125910 [GRCh38]
Chr21:47545823 [GRCh37]
Chr21:47545823..47545824 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2097C>T (p.Gly699=) single nucleotide variant Bethlem myopathy 1A [RCV001520877]|Collagen 6-related myopathy [RCV000291715]|Myosclerosis [RCV000381689]|Ullrich congenital muscular dystrophy 1A [RCV001664322]|not provided [RCV000710893]|not specified [RCV000079870] Chr21:46125912 [GRCh38]
Chr21:47545826 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2113T>C (p.Ser705Pro) single nucleotide variant not provided [RCV000079871] Chr21:46125928 [GRCh38]
Chr21:47545842 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2136C>T (p.Asp712=) single nucleotide variant Bethlem myopathy 1A [RCV000550681]|Collagen 6-related myopathy [RCV001143524]|not provided [RCV001719828]|not specified [RCV000079872] Chr21:46125951 [GRCh38]
Chr21:47545865 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) single nucleotide variant Bethlem myopathy 1A [RCV001085011]|Bethlem myopathy 1A [RCV002490696]|Collagen 6-related myopathy [RCV000292788]|Myosclerosis [RCV000352815]|not provided [RCV000710894]|not specified [RCV000079873] Chr21:46125975 [GRCh38]
Chr21:47545889 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.2163G>A (p.Gln721=) single nucleotide variant Bethlem myopathy 1A [RCV001080043]|Collagen 6-related myopathy [RCV000299188]|Myosclerosis [RCV000400892]|not provided [RCV000710895]|not specified [RCV000079874] Chr21:46125978 [GRCh38]
Chr21:47545892 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.2184G>A (p.Val728=) single nucleotide variant Bethlem myopathy 1A [RCV001520878]|Collagen 6-related myopathy [RCV000304018]|Myosclerosis [RCV000264972]|Ullrich congenital muscular dystrophy 1A [RCV001664323]|not provided [RCV000710896]|not specified [RCV000079875] Chr21:46125999 [GRCh38]
Chr21:47545913 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) single nucleotide variant not provided [RCV000723639]|not specified [RCV000079876] Chr21:46126056 [GRCh38]
Chr21:47545970 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) single nucleotide variant Bethlem myopathy 1A [RCV000990371]|Collagen 6-related myopathy [RCV000281111]|not provided [RCV000420180]|not specified [RCV000079877] Chr21:46126166 [GRCh38]
Chr21:47546080 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2423-35C>A single nucleotide variant not provided [RCV000839994]|not specified [RCV000079878] Chr21:46126468 [GRCh38]
Chr21:47546382 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2462-35C>T single nucleotide variant Bethlem myopathy 1A [RCV001664324]|Myosclerosis [RCV001664325]|Ullrich congenital muscular dystrophy 1A [RCV001664326]|not provided [RCV000838866]|not specified [RCV000079879] Chr21:46131919 [GRCh38]
Chr21:47551833 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2484G>A (p.Thr828=) single nucleotide variant Bethlem myopathy 1A [RCV001086738]|not provided [RCV000079880] Chr21:46131976 [GRCh38]
Chr21:47551890 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) single nucleotide variant Bethlem myopathy 1A [RCV001084761]|COL6A2-related disorder [RCV004734637]|not provided [RCV000079881] Chr21:46132072 [GRCh38]
Chr21:47551986 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2610C>T (p.Asp870=) single nucleotide variant Bethlem myopathy 1A [RCV000533399]|COL6A2-related disorder [RCV004537333]|not provided [RCV001719829]|not specified [RCV000079882] Chr21:46132102 [GRCh38]
Chr21:47552016 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2697G>T (p.Thr899=) single nucleotide variant Bethlem myopathy 1A [RCV001521916]|Collagen 6-related myopathy [RCV000380522]|Glutamate formiminotransferase deficiency [RCV000388741]|Myosclerosis [RCV000323613]|not provided [RCV001711231]|not specified [RCV000079883] Chr21:46132189 [GRCh38]
Chr21:47552103 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=) single nucleotide variant Bethlem myopathy 1A [RCV001521303]|Collagen 6-related myopathy [RCV000386615]|Glutamate formiminotransferase deficiency [RCV000289634]|Myosclerosis [RCV000348436]|not provided [RCV000710897]|not specified [RCV000079884] Chr21:46132216 [GRCh38]
Chr21:47552130 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2761G>A (p.Val921Met) single nucleotide variant Bethlem myopathy 1A [RCV000796644]|Inborn genetic diseases [RCV002514404]|not provided [RCV000079885] Chr21:46132253 [GRCh38]
Chr21:47552167 [GRCh37]
Chr21:21q22.3		 likely benign|drug response|uncertain significance
NM_001849.4(COL6A2):c.2769C>T (p.His923=) single nucleotide variant Bethlem myopathy 1A [RCV001084163]|Collagen 6-related myopathy [RCV000298848]|Myosclerosis [RCV000402270]|not provided [RCV000585142]|not specified [RCV000079886] Chr21:46132261 [GRCh38]
Chr21:47552175 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg) single nucleotide variant Bethlem myopathy 1A [RCV001519261]|Collagen 6-related myopathy [RCV000305730]|Glutamate formiminotransferase deficiency [RCV000344640]|Myosclerosis [RCV000267009]|not provided [RCV000710898]|not specified [RCV000079887] Chr21:46132295 [GRCh38]
Chr21:46132295..46132296 [GRCh38]
Chr21:47552209 [GRCh37]
Chr21:47552209..47552210 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2886C>T (p.His962=) single nucleotide variant Bethlem myopathy 1A [RCV000531963]|Collagen 6-related myopathy [RCV001141919]|not specified [RCV000079888] Chr21:46132378 [GRCh38]
Chr21:47552292 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2979C>T (p.Arg993=) single nucleotide variant Bethlem myopathy 1A [RCV001521304]|Collagen 6-related myopathy [RCV000373863]|Glutamate formiminotransferase deficiency [RCV000404594]|Myosclerosis [RCV000335530]|not provided [RCV004703222]|not specified [RCV000079889] Chr21:46132471 [GRCh38]
Chr21:47552385 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) single nucleotide variant Bethlem myopathy 1A [RCV001086855]|Collagen 6-related myopathy [RCV000285298]|Myosclerosis [RCV000398635]|not provided [RCV000514272]|not specified [RCV000079890] Chr21:46132475 [GRCh38]
Chr21:47552389 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu) single nucleotide variant Bethlem myopathy 1A [RCV001082806]|Collagen 6-related myopathy [RCV000333824]|Glutamate formiminotransferase deficiency [RCV000341066]|Myosclerosis [RCV000353550]|not provided [RCV000224012]|not specified [RCV000079891] Chr21:46132535 [GRCh38]
Chr21:47552449 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) single nucleotide variant Bethlem myopathy 1A [RCV000990365]|Bethlem myopathy 1A [RCV002483139]|Collagen 6-related myopathy [RCV000354637]|not provided [RCV000224165]|not specified [RCV000079892] Chr21:46112179 [GRCh38]
Chr21:47532093 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.499G>A (p.Gly167Ser) single nucleotide variant Bethlem myopathy 1A [RCV000542888]|COL6A2-related disorder [RCV004537334]|Collagen 6-related myopathy [RCV000326258]|Myosclerosis [RCV000269020]|not provided [RCV004703223]|not specified [RCV000079893] Chr21:46112362 [GRCh38]
Chr21:47532276 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.663C>T (p.Pro221=) single nucleotide variant Bethlem myopathy 1A [RCV001510600]|Collagen 6-related myopathy [RCV000314347]|Myosclerosis [RCV000371278]|not provided [RCV000710900]|not specified [RCV000079894] Chr21:46112526 [GRCh38]
Chr21:47532440 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) single nucleotide variant Bethlem myopathy 1A [RCV000550109]|Collagen 6-related myopathy [RCV000274404]|Myosclerosis [RCV000331731]|not provided [RCV000710901]|not specified [RCV000079895] Chr21:46112542 [GRCh38]
Chr21:47532456 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.714+29G>A single nucleotide variant not provided [RCV001650910]|not specified [RCV000079896] Chr21:46112606 [GRCh38]
Chr21:47532520 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.714+45C>T single nucleotide variant not provided [RCV000841558]|not specified [RCV000079897] Chr21:46112622 [GRCh38]
Chr21:47532536 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.714+9C>T single nucleotide variant Bethlem myopathy 1A [RCV000538531]|Collagen 6-related myopathy [RCV000374715]|Myosclerosis [RCV000263753]|not provided [RCV000710902]|not specified [RCV000079898] Chr21:46112586 [GRCh38]
Chr21:47532500 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) single nucleotide variant Bethlem myopathy 1A [RCV001083627]|COL6A2-related disorder [RCV004537335]|Collagen 6-related myopathy [RCV000378558]|Myosclerosis [RCV000316583]|Tip-toe gait [RCV002226455]|not provided [RCV000723766] Chr21:46114031 [GRCh38]
Chr21:47533945 [GRCh37]
Chr21:21q22.3		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) single nucleotide variant Bethlem myopathy 1A [RCV001084362]|Collagen 6-related myopathy [RCV000377472]|Myosclerosis [RCV000290059]|not provided [RCV000514873]|not specified [RCV000079900] Chr21:46115902 [GRCh38]
Chr21:47535816 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.855+2T>G single nucleotide variant not provided [RCV000179392] Chr21:46115927 [GRCh38]
Chr21:47535841 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.928-19C>T single nucleotide variant Bethlem myopathy 1A [RCV001664327]|Myosclerosis [RCV001664328]|Ullrich congenital muscular dystrophy 1A [RCV001664329]|not provided [RCV004713228]|not specified [RCV000079902] Chr21:46116632 [GRCh38]
Chr21:47536546 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.955-8C>T single nucleotide variant not provided [RCV000079903] Chr21:46116762 [GRCh38]
Chr21:47536676 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2592G>A (p.Thr864=) single nucleotide variant Bethlem myopathy 1A [RCV000554539]|Collagen 6-related myopathy [RCV000347826]|Glutamate formiminotransferase deficiency [RCV000352852]|Myosclerosis [RCV000290550]|not provided [RCV004703381]|not specified [RCV000116793] Chr21:46132084 [GRCh38]
Chr21:47551998 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr) single nucleotide variant Bethlem myopathy 1A [RCV000557640]|Bethlem myopathy 1A [RCV002498506]|Collagen 6-related myopathy [RCV000281717]|Glutamate formiminotransferase deficiency [RCV000290682]|Myosclerosis [RCV000339033]|not provided [RCV004703382]|not specified [RCV000116794] Chr21:46132472 [GRCh38]
Chr21:47552386 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) single nucleotide variant Bethlem myopathy 1A [RCV001337641]|not provided [RCV000171510] Chr21:46125812 [GRCh38]
Chr21:47545726 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1752T>C (p.Pro584=) single nucleotide variant Bethlem myopathy 1A [RCV001394511] Chr21:46124902 [GRCh38]
Chr21:47544816 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) single nucleotide variant Bethlem myopathy 1A [RCV000546308]|COL6A2-related disorder [RCV004539640]|Collagen 6-related myopathy [RCV000317134]|Myosclerosis [RCV000371801]|not provided [RCV001697205]|not specified [RCV000176646] Chr21:46126147 [GRCh38]
Chr21:47546061 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.510C>T (p.Cys170=) single nucleotide variant Bethlem myopathy 1A [RCV000560821]|Bethlem myopathy 1A [RCV002485154]|Collagen 6-related myopathy [RCV000387780]|Inborn genetic diseases [RCV003243000]|Myosclerosis [RCV000295895]|not provided [RCV001531976]|not specified [RCV000177136] Chr21:46112373 [GRCh38]
Chr21:47532287 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.483C>T (p.Thr161=) single nucleotide variant Bethlem myopathy 1A [RCV000546366]|Collagen 6-related myopathy [RCV000265513]|Myosclerosis [RCV000357943]|not provided [RCV001721114]|not specified [RCV000177137] Chr21:46112346 [GRCh38]
Chr21:47532260 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) single nucleotide variant Bethlem myopathy 1A [RCV000556046]|not provided [RCV001704840]|not specified [RCV000176860] Chr21:46132363 [GRCh38]
Chr21:47552277 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2462-5dup duplication Bethlem myopathy 1A [RCV000549190]|Collagen 6-related myopathy [RCV000398480]|Myosclerosis [RCV000306686]|not specified [RCV000176862] Chr21:46131945..46131946 [GRCh38]
Chr21:47551859..47551860 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) single nucleotide variant Bethlem myopathy 1A [RCV000549645]|COL6A2-related disorder [RCV004539643]|Collagen 6-related myopathy [RCV000275063]|Myosclerosis [RCV000332444]|not provided [RCV001675656]|not specified [RCV000176864] Chr21:46132436 [GRCh38]
Chr21:47552350 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.801+1G>A single nucleotide variant Abnormality of the musculature [RCV001814091]|Bethlem myopathy 1A [RCV000178851]|not provided [RCV000178850] Chr21:46114074 [GRCh38]
Chr21:47533988 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.812G>A (p.Gly271Asp) single nucleotide variant not provided [RCV000179391] Chr21:46115882 [GRCh38]
Chr21:47535796 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) single nucleotide variant Bethlem myopathy 1A [RCV000179832]|not provided [RCV000179831] Chr21:46116028 [GRCh38]
Chr21:47535942 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr) single nucleotide variant Bethlem myopathy 1A [RCV003104332]|not provided [RCV004763590] Chr21:46111987 [GRCh38]
Chr21:47531901 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47486134-47796810)x3 copy number gain See cases [RCV000184073] Chr21:47486134..47796810 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) single nucleotide variant Bethlem myopathy 1A [RCV001086194]|COL6A2-related disorder [RCV004539608]|Collagen 6-related myopathy [RCV000353406]|Myosclerosis [RCV000300853]|not provided [RCV000762045]|not specified [RCV000174304] Chr21:46117890 [GRCh38]
Chr21:47537804 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys) single nucleotide variant not provided [RCV000392800] Chr21:46117883 [GRCh38]
Chr21:47537797 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) single nucleotide variant Bethlem myopathy 1A [RCV000536085]|Collagen 6-related myopathy [RCV000311316]|Myosclerosis [RCV000407691]|Tip-toe gait [RCV004725025]|not provided [RCV000724011] Chr21:46116803 [GRCh38]
Chr21:47536717 [GRCh37]
Chr21:21q22.3		 benign|likely benign|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
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) single nucleotide variant Bethlem myopathy 1A [RCV000544905]|Bethlem myopathy 1A [RCV003483560]|Collagen 6-related myopathy [RCV000391113]|Inborn genetic diseases [RCV001267221]|Myosclerosis [RCV000300525]|not provided [RCV000766827]|not specified [RCV000232259] Chr21:46120518 [GRCh38]
Chr21:47540432 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001849.4(COL6A2):c.1333-10C>G single nucleotide variant Bethlem myopathy 1A [RCV001081936]|COL6A2-related disorder [RCV004539622]|Collagen 6-related myopathy [RCV000400775]|Myosclerosis [RCV000348429]|not provided [RCV000724812] Chr21:46120505 [GRCh38]
Chr21:47540419 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) single nucleotide variant Bethlem myopathy 1A [RCV001087783]|Collagen 6-related myopathy [RCV000355395]|Myosclerosis [RCV000391111]|not provided [RCV000724248]|not specified [RCV000249787] Chr21:46121102 [GRCh38]
Chr21:47541016 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1458+3C>T single nucleotide variant Bethlem myopathy 1A [RCV001069904]|not provided [RCV000175165]|not specified [RCV004586592] Chr21:46121126 [GRCh38]
Chr21:47541040 [GRCh37]
Chr21:21q22.3		 uncertain significance
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
NM_001849.4(COL6A2):c.1521+5G>A single nucleotide variant Bethlem myopathy 1A [RCV001339362]|not provided [RCV000175291] Chr21:46121623 [GRCh38]
Chr21:47541537 [GRCh37]
Chr21:21q22.3		 uncertain significance
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_001849.3(COL6A2):c.118A>G (p.Lys40Glu) single nucleotide variant Congenital muscular dystrophy [RCV000149924] Chr21:46111981 [GRCh38]
Chr21:47531895 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) single nucleotide variant Bethlem myopathy 1A [RCV000662156]|Ullrich congenital muscular dystrophy 1A [RCV000662155] Chr21:46112011 [GRCh38]
Chr21:47531925 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu) single nucleotide variant Bethlem myopathy 1A [RCV000810925]|not provided [RCV000593309] Chr21:46116010 [GRCh38]
Chr21:47535924 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser) single nucleotide variant Bethlem myopathy 1A [RCV002047237] Chr21:46116027 [GRCh38]
Chr21:47535941 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) single nucleotide variant Bethlem myopathy 1A [RCV002514869]|Collagen 6-related myopathy [RCV001138979]|Ullrich congenital muscular dystrophy 1A [RCV001330649]|not provided [RCV000735128] Chr21:46121562 [GRCh38]
Chr21:47541476 [GRCh37]
Chr21:21q22.3		 likely pathogenic|likely benign|uncertain significance
NM_001849.4(COL6A2):c.1797G>C (p.Arg599Ser) single nucleotide variant not provided [RCV000348885] Chr21:46125292 [GRCh38]
Chr21:47545206 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.3(COL6A2):c.1975C>A (p.Arg659Ser) single nucleotide variant Congenital muscular dystrophy [RCV000149933] Chr21:46125790 [GRCh38]
Chr21:47545704 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2002G>A (p.Glu668Lys) single nucleotide variant Bethlem myopathy 1A [RCV000808953]|not provided [RCV000512668] Chr21:46125817 [GRCh38]
Chr21:47545731 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) single nucleotide variant Bethlem myopathy 1A [RCV000990372]|Bethlem myopathy 1A [RCV002505139]|COL6A2-related disorder [RCV004532670]|Collagen 6-related myopathy [RCV000370345]|Myosclerosis [RCV000259316]|not provided [RCV000541944]|not specified [RCV000149936] Chr21:46132050 [GRCh38]
Chr21:47551964 [GRCh37]
Chr21:21q22.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2566G>A (p.Val856Met) single nucleotide variant Bethlem myopathy 1A [RCV001053729]|Collagen 6-related myopathy [RCV000316783]|Inborn genetic diseases [RCV002514870]|Myosclerosis [RCV000373797]|not provided [RCV000149937] Chr21:46132058 [GRCh38]
Chr21:47551972 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.3(COL6A2):c.2924C>A (p.Ala975Asp) single nucleotide variant Congenital muscular dystrophy [RCV000149939] Chr21:46132416 [GRCh38]
Chr21:47552330 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val) single nucleotide variant Bethlem myopathy 1A [RCV000559107] Chr21:46116387 [GRCh38]
Chr21:47536301 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.1531G>A (p.Gly511Ser) single nucleotide variant not provided [RCV000731026] Chr21:46122117 [GRCh38]
Chr21:47542031 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) single nucleotide variant Bethlem myopathy 1A [RCV001926746]|COL6A2-related disorder [RCV004538631]|not provided [RCV003146368] Chr21:46125790 [GRCh38]
Chr21:47545704 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) single nucleotide variant Bethlem myopathy 1A [RCV001325357]|not provided [RCV003144141] Chr21:46126217 [GRCh38]
Chr21:47546131 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) single nucleotide variant Bethlem myopathy 1A [RCV000525095] Chr21:46132000 [GRCh38]
Chr21:47551914 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
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_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) single nucleotide variant Bethlem myopathy 1A [RCV000808812]|Bethlem myopathy 1B [RCV004596075]|not provided [RCV000153082] Chr21:46118659 [GRCh38]
Chr21:47538573 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1336G>C (p.Asp446His) single nucleotide variant Bethlem myopathy 1A [RCV000557300]|not provided [RCV000153083] Chr21:46120518 [GRCh38]
Chr21:47540432 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) single nucleotide variant Bethlem myopathy 1A [RCV001079810]|not provided [RCV000723870]|not specified [RCV000153084] Chr21:46124911 [GRCh38]
Chr21:47544825 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2220T>C (p.Asp740=) single nucleotide variant Bethlem myopathy 1A [RCV000552565]|Collagen 6-related myopathy [RCV000268659]|Myosclerosis [RCV000363329]|not provided [RCV001719949]|not specified [RCV000153085] Chr21:46126035 [GRCh38]
Chr21:47545949 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.2528G>A (p.Arg843Gln) single nucleotide variant Bethlem myopathy 1A [RCV000704454]|not provided [RCV000153086]|not specified [RCV004700477] Chr21:46132020 [GRCh38]
Chr21:47551934 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2605G>A (p.Asp869Asn) single nucleotide variant Bethlem myopathy 1A [RCV000531465]|Collagen 6-related myopathy [RCV000399376]|Myosclerosis [RCV000312795]|not provided [RCV001704107]|not specified [RCV000153087] Chr21:46132097 [GRCh38]
Chr21:47552011 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.22G>A (p.Val8Met) single nucleotide variant Bethlem myopathy 1A [RCV001084510]|not provided [RCV000724735] Chr21:46111498 [GRCh38]
Chr21:47531412 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) single nucleotide variant Bethlem myopathy 1A [RCV001208362]|Myopathy [RCV000193161]|not provided [RCV000387708] Chr21:46131981 [GRCh38]
Chr21:47551895 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) single nucleotide variant Bethlem myopathy 1A [RCV000560338]|Ullrich congenital muscular dystrophy 1A [RCV002227464]|not provided [RCV000254951] Chr21:46132386 [GRCh38]
Chr21:47552300 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs) duplication Ullrich congenital muscular dystrophy 1A [RCV000256480] Chr21:46125854..46125855 [GRCh38]
Chr21:47545768..47545769 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) single nucleotide variant Bethlem myopathy 1A [RCV000805017]|not provided [RCV000178169] Chr21:46112819 [GRCh38]
Chr21:47532733 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) single nucleotide variant Bethlem myopathy 1A [RCV000546019]|Myopathy [RCV000194202]|Ullrich congenital muscular dystrophy 1A [RCV002227456]|not provided [RCV000266193] Chr21:46132125 [GRCh38]
Chr21:47552039 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) single nucleotide variant Bethlem myopathy 1A [RCV001087613]|COL6A2-related disorder [RCV004537414]|Collagen 6-related myopathy [RCV000310053]|Myosclerosis [RCV000367104]|not provided [RCV000723503] Chr21:46132009 [GRCh38]
Chr21:47551923 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) single nucleotide variant Bethlem myopathy 1A [RCV001088613]|not provided [RCV000724103]|not specified [RCV000176857] Chr21:46132453 [GRCh38]
Chr21:47552367 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) single nucleotide variant Bethlem myopathy 1A [RCV001087608]|not provided [RCV000827210]|not specified [RCV000176859] Chr21:46132288 [GRCh38]
Chr21:47552202 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) single nucleotide variant Bethlem myopathy 1A [RCV001086781]|Collagen 6-related myopathy [RCV000294726]|Myosclerosis [RCV000351968]|not provided [RCV000724665]|not specified [RCV000241740] Chr21:46132243 [GRCh38]
Chr21:47552157 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) single nucleotide variant Bethlem myopathy 1A [RCV001082268]|COL6A2-related disorder [RCV004539642]|Collagen 6-related myopathy [RCV001143620]|not provided [RCV000416019]|not specified [RCV000176863] Chr21:46132175 [GRCh38]
Chr21:47552089 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2679G>A (p.Pro893=) single nucleotide variant Bethlem myopathy 1A [RCV001460927]|not provided [RCV000176865] Chr21:46132171 [GRCh38]
Chr21:47552085 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) single nucleotide variant Bethlem myopathy 1A [RCV001089400]|COL6A2-related disorder [RCV004537415]|not provided [RCV000176866] Chr21:46132342 [GRCh38]
Chr21:47552256 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) single nucleotide variant Bethlem myopathy 1A [RCV001078865]|Collagen 6-related myopathy [RCV000351153]|Myosclerosis [RCV000407370]|not provided [RCV000724824] Chr21:46132097 [GRCh38]
Chr21:47552011 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) single nucleotide variant Bethlem myopathy 1A [RCV001212040]|Collagen 6-related myopathy [RCV001141472]|Inborn genetic diseases [RCV004020175]|not provided [RCV000180577] Chr21:46116656 [GRCh38]
Chr21:47536570 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_001849.4(COL6A2):c.116-7C>T single nucleotide variant not provided [RCV000177138] Chr21:46111972 [GRCh38]
Chr21:47531886 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) single nucleotide variant Bethlem myopathy 1A [RCV002517698]|not provided [RCV000176543] Chr21:46125580 [GRCh38]
Chr21:47545494 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1831T>C (p.Cys611Arg) single nucleotide variant not provided [RCV000176544] Chr21:46125479 [GRCh38]
Chr21:47545393 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) single nucleotide variant Bethlem myopathy 1A [RCV002516711]|not provided [RCV000176644] Chr21:46125931 [GRCh38]
Chr21:47545845 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) single nucleotide variant Bethlem myopathy 1A [RCV001368873]|not provided [RCV000176645] Chr21:46125913 [GRCh38]
Chr21:47545827 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) single nucleotide variant Bethlem myopathy 1A [RCV000990370]|Ullrich congenital muscular dystrophy 1A [RCV003441146]|not provided [RCV000176647] Chr21:46126007 [GRCh38]
Chr21:47545921 [GRCh37]
Chr21:21q22.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp) single nucleotide variant Bethlem myopathy 1A [RCV000197493]|not provided [RCV000593438] Chr21:46125911 [GRCh38]
Chr21:47545825 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) single nucleotide variant Bethlem myopathy 1A [RCV003631097]|not provided [RCV003436986]|not specified [RCV000192614] Chr21:46132253 [GRCh38]
Chr21:47552167 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg) single nucleotide variant Myopathy [RCV000193638] Chr21:46116045 [GRCh38]
Chr21:47535959 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.138C>T (p.His46=) single nucleotide variant Bethlem myopathy 1A [RCV000545828]|COL6A2-related disorder [RCV004734919]|Collagen 6-related myopathy [RCV000349856]|Myosclerosis [RCV000292608]|not specified [RCV000374056] Chr21:46112001 [GRCh38]
Chr21:47531915 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) single nucleotide variant Bethlem myopathy 1A [RCV000801298]|not provided [RCV000597570] Chr21:46132019 [GRCh38]
Chr21:47551933 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) single nucleotide variant Bethlem myopathy 1A [RCV001086405]|Collagen 6-related myopathy [RCV000302508]|Myosclerosis [RCV000341130]|not provided [RCV000386408] Chr21:46112431 [GRCh38]
Chr21:47532345 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) single nucleotide variant Bethlem myopathy 1A [RCV001859591]|Collagen 6-related myopathy [RCV000383359]|Myosclerosis [RCV000293476]|not provided [RCV000302628] Chr21:46119830 [GRCh38]
Chr21:47539744 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2697G>A (p.Thr899=) single nucleotide variant Bethlem myopathy 1A [RCV000546795]|Collagen 6-related myopathy [RCV001143621]|not provided [RCV003431122]|not specified [RCV000609723] Chr21:46132189 [GRCh38]
Chr21:47552103 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) single nucleotide variant Bethlem myopathy 1A [RCV001085703]|Collagen 6-related myopathy [RCV000300120]|Myosclerosis [RCV000359590]|not provided [RCV000363018]|not specified [RCV001731555] Chr21:46125997 [GRCh38]
Chr21:47545911 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) single nucleotide variant Bethlem myopathy 1A [RCV001085020]|Collagen 6-related myopathy [RCV000390977]|Myosclerosis [RCV000300938]|not provided [RCV000379038] Chr21:46112052 [GRCh38]
Chr21:47531966 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2407G>A (p.Asp803Asn) single nucleotide variant Bethlem myopathy 1A [RCV000548374]|COL6A2-related disorder [RCV004735628]|Inborn genetic diseases [RCV003258877]|not provided [RCV004691912] Chr21:46126222 [GRCh38]
Chr21:47546136 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.*5G>A single nucleotide variant Bethlem myopathy 1A [RCV001007855]|Collagen 6-related myopathy [RCV000318994]|Myosclerosis [RCV000261412]|not provided [RCV000326800] Chr21:46132557 [GRCh38]
Chr21:47552471 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser) single nucleotide variant Collagen 6-related myopathy [RCV000274714]|Inborn genetic diseases [RCV004021112]|Myosclerosis [RCV000329938]|not provided [RCV000343903] Chr21:46124900 [GRCh38]
Chr21:47544814 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2582G>A (p.Arg861Gln) single nucleotide variant Bethlem myopathy 1A [RCV001087885]|Collagen 6-related myopathy [RCV000377482]|Myosclerosis [RCV000285371]|not provided [RCV000400296] Chr21:46132074 [GRCh38]
Chr21:47551988 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1140C>T (p.Arg380=) single nucleotide variant Bethlem myopathy 1A [RCV001082515]|Collagen 6-related myopathy [RCV000321990]|Myosclerosis [RCV000262159]|not provided [RCV000653640]|not specified [RCV000389129] Chr21:46118637 [GRCh38]
Chr21:47538551 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) single nucleotide variant Bethlem myopathy 1A [RCV001081923]|Collagen 6-related myopathy [RCV000301508]|Myosclerosis [RCV000262696]|not provided [RCV000354320] Chr21:46132126 [GRCh38]
Chr21:47552040 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.791G>A (p.Arg264His) single nucleotide variant Bethlem myopathy 1A [RCV000551936]|Collagen 6-related myopathy [RCV000339179]|Myosclerosis [RCV000286457]|not provided [RCV000513122] Chr21:46114063 [GRCh38]
Chr21:47533977 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1817-4_1817-3dup duplication Bethlem myopathy 1A [RCV000559178]|Collagen 6-related myopathy [RCV000286795]|Myosclerosis [RCV000377799]|not specified [RCV000388843] Chr21:46125455..46125456 [GRCh38]
Chr21:47545369..47545370 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1817-8C>A single nucleotide variant Bethlem myopathy 1A [RCV001078904]|COL6A2-related disorder [RCV004734917]|Collagen 6-related myopathy [RCV000347425]|Myosclerosis [RCV000287971]|not provided [RCV000366940]|not specified [RCV000784948] Chr21:46125457 [GRCh38]
Chr21:47545371 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2016G>A (p.Glu672=) single nucleotide variant Bethlem myopathy 1A [RCV001078838]|Collagen 6-related myopathy [RCV000355457]|Myosclerosis [RCV000265412]|not provided [RCV000329456] Chr21:46125831 [GRCh38]
Chr21:47545745 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) single nucleotide variant Bethlem myopathy 1A [RCV001087725]|COL6A2-related disorder [RCV004543021]|Collagen 6-related myopathy [RCV000381103]|Myosclerosis [RCV000289005]|not provided [RCV000725254]|not specified [RCV000387663] Chr21:46111560 [GRCh38]
Chr21:47531474 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2661G>A (p.Glu887=) single nucleotide variant Bethlem myopathy 1A [RCV001086941]|Collagen 6-related myopathy [RCV000266261]|Myosclerosis [RCV000358384]|not provided [RCV000373659] Chr21:46132153 [GRCh38]
Chr21:47552067 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.81G>A (p.Ser27=) single nucleotide variant Bethlem myopathy 1A [RCV001082516]|Collagen 6-related myopathy [RCV000289970]|Myosclerosis [RCV000328566]|not provided [RCV000653684]|not specified [RCV000294819] Chr21:46111557 [GRCh38]
Chr21:47531471 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) single nucleotide variant Bethlem myopathy 1A [RCV000822191]|Collagen 6-related myopathy [RCV000326181]|Myosclerosis [RCV000268727]|not provided [RCV000327831] Chr21:46132199 [GRCh38]
Chr21:47552113 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1489C>A (p.Pro497Thr) single nucleotide variant Bethlem myopathy 1A [RCV001087788]|COL6A2-related disorder [RCV004543048]|Collagen 6-related myopathy [RCV000325923]|Myosclerosis [RCV000270832]|not provided [RCV000766751]|not specified [RCV000329762] Chr21:46121586 [GRCh38]
Chr21:47541500 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1970-9G>A single nucleotide variant Abnormality of the musculature [RCV001814135]|Bethlem myopathy 1A [RCV000556474]|Bethlem myopathy [RCV001261891]|Collagen 6-related myopathy [RCV000354105]|Muscle weakness [RCV000626815]|Qualitative or quantitative defects of collagen 6 [RCV000844694]|Ullrich congenital muscular dystrophy 1A [RCV002227463]|Ullrich congenital muscular dystrophy 1B [RCV003989514]|not provided [RCV000255313] Chr21:46125776 [GRCh38]
Chr21:47545690 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) single nucleotide variant Bethlem myopathy 1A [RCV000554050] Chr21:46122932 [GRCh38]
Chr21:47542846 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.129C>T (p.Cys43=) single nucleotide variant Bethlem myopathy 1A [RCV000556363] Chr21:46111992 [GRCh38]
Chr21:47531906 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh38/hg38 21q22.3(chr21:45850091-46137287)x1 copy number loss Breast ductal adenocarcinoma [RCV000207179] Chr21:45850091..46137287 [GRCh38]
Chr21:47270005..47557201 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) single nucleotide variant Bethlem myopathy 1A [RCV002524981]|not provided [RCV000514208] Chr21:46132397 [GRCh38]
Chr21:47552311 [GRCh37]
Chr21:21q22.3		 uncertain significance
chr21:45970718..47545826 complex variant complex Breast ductal adenocarcinoma [RCV000207279] Chr21:45970718..47545826 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) single nucleotide variant Bethlem myopathy 1A [RCV000555014] Chr21:46132335 [GRCh38]
Chr21:47552249 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.332C>T (p.Pro111Leu) single nucleotide variant Bethlem myopathy 1A [RCV001347096]|Collagen 6-related myopathy [RCV000305547]|Myosclerosis [RCV000406254]|not provided [RCV000338896] Chr21:46112195 [GRCh38]
Chr21:47532109 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) single nucleotide variant Bethlem myopathy 1A [RCV000230758] Chr21:46116677 [GRCh38]
Chr21:47536591 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) single nucleotide variant Bethlem myopathy 1A [RCV000556569]|Bethlem myopathy 1A [RCV000660619]|not provided [RCV000733635] Chr21:46132419 [GRCh38]
Chr21:47552333 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1358G>A (p.Arg453His) single nucleotide variant Bethlem myopathy 1A [RCV000685020]|not provided [RCV000726521]|not specified [RCV000234070] Chr21:46120540 [GRCh38]
Chr21:47540454 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) single nucleotide variant Bethlem myopathy 1A [RCV001304624]|not provided [RCV003144162]|not specified [RCV000228576] Chr21:46112366 [GRCh38]
Chr21:47532280 [GRCh37]
Chr21:21q22.3		 likely pathogenic|uncertain significance
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) single nucleotide variant Bethlem myopathy 1A [RCV001257054]|COL6A2-related disorder [RCV000723333]|Collagen 6-related myopathy [RCV000386454]|Myosclerosis [RCV000329881]|Tip-toe gait [RCV002227938]|not provided [RCV000725047] Chr21:46112374 [GRCh38]
Chr21:47532288 [GRCh37]
Chr21:21q22.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1560C>G (p.Pro520=) single nucleotide variant Bethlem myopathy 1A [RCV000872032]|Collagen 6-related myopathy [RCV000331357]|Myosclerosis [RCV000386430]|not provided [RCV001573878]|not specified [RCV000404672] Chr21:46122146 [GRCh38]
Chr21:47542060 [GRCh37]
Chr21:21q22.3		 benign|likely benign
GRCh37/hg19 21q22.3(chr21:46363553-48080926)x1 copy number loss See cases [RCV000239957] Chr21:46363553..48080926 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) single nucleotide variant Bethlem myopathy 1A [RCV001082860]|Bethlem myopathy [RCV001261892]|COL6A2-related disorder [RCV004535372]|Collagen 6-related myopathy [RCV000335376]|Myosclerosis [RCV000391271]|not provided [RCV000725902] Chr21:46125985 [GRCh38]
Chr21:47545899 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2422+1G>A single nucleotide variant Bethlem myopathy 1A [RCV003326395]|Ullrich congenital muscular dystrophy 1A [RCV000985002]|not provided [RCV000332897] Chr21:46126238 [GRCh38]
Chr21:47546152 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1614C>T (p.Gly538=) single nucleotide variant Bethlem myopathy 1A [RCV000527980]|COL6A2-related disorder [RCV004535256]|Collagen 6-related myopathy [RCV000399922]|Myosclerosis [RCV000338651]|not provided [RCV001722385]|not specified [RCV000333735] Chr21:46122880 [GRCh38]
Chr21:47542794 [GRCh37]
Chr21:21q22.3		 benign|likely benign
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_001849.4(COL6A2):c.492C>T (p.His164=) single nucleotide variant Bethlem myopathy 1A [RCV001082800]|COL6A2-related disorder [RCV004535358]|Collagen 6-related myopathy [RCV000365882]|Myosclerosis [RCV000327665]|not provided [RCV000725775]|not specified [RCV000372828] Chr21:46112355 [GRCh38]
Chr21:47532269 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q22.3(chr21:47550596-48080926)x1 copy number loss See cases [RCV000240055] Chr21:47550596..48080926 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.2985C>T (p.Ala995=) single nucleotide variant Bethlem myopathy 1A [RCV002059124]|Collagen 6-related myopathy [RCV000342638]|Myosclerosis [RCV000398389]|not provided [RCV000372671] Chr21:46132477 [GRCh38]
Chr21:47552391 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.801+1G>T single nucleotide variant Bethlem myopathy 1A [RCV001855169]|not provided [RCV000288156] Chr21:46114074 [GRCh38]
Chr21:47533988 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.2646del (p.Phe882fs) deletion not provided [RCV000516645] Chr21:46132136 [GRCh38]
Chr21:47552050 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.2284_2285del (p.Met762fs) deletion not provided [RCV000342084] Chr21:46126099..46126100 [GRCh38]
Chr21:47546013..47546014 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val) single nucleotide variant not provided [RCV000300421] Chr21:46116010 [GRCh38]
Chr21:47535924 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.1945G>A (p.Ala649Thr) single nucleotide variant Bethlem myopathy 1A [RCV000873283]|Collagen 6-related myopathy [RCV000348651]|Myosclerosis [RCV000393023]|not provided [RCV001718584]|not specified [RCV000259742] Chr21:46125593 [GRCh38]
Chr21:47545507 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.955-2A>G single nucleotide variant Inborn genetic diseases [RCV000623661] Chr21:46116768 [GRCh38]
Chr21:47536682 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1672-45T>A single nucleotide variant not specified [RCV000243654] Chr21:46124606 [GRCh38]
Chr21:47544520 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.1269+32C>T single nucleotide variant not provided [RCV001567742]|not specified [RCV000248540] Chr21:46119151 [GRCh38]
Chr21:47539065 [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_001849.4(COL6A2):c.1672-25C>T single nucleotide variant not specified [RCV000248720] Chr21:46124626 [GRCh38]
Chr21:47544540 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.528G>A (p.Gln176=) single nucleotide variant Bethlem myopathy 1A [RCV000549361]|Collagen 6-related myopathy [RCV000337966]|Myosclerosis [RCV000280619]|not provided [RCV001697598]|not specified [RCV000243870] Chr21:46112391 [GRCh38]
Chr21:47532305 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2499C>T (p.Asp833=) single nucleotide variant not specified [RCV000253699] Chr21:46131991 [GRCh38]
Chr21:47551905 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) single nucleotide variant Bethlem myopathy 1A [RCV000526158]|Collagen 6-related myopathy [RCV000360804]|Myosclerosis [RCV000305962]|not provided [RCV000859406]|not specified [RCV000241637] Chr21:46121563 [GRCh38]
Chr21:47541477 [GRCh37]
Chr21:21q22.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2200C>T (p.Arg734Cys) single nucleotide variant not provided [RCV003144179]|not specified [RCV000246597] Chr21:46126015 [GRCh38]
Chr21:47545929 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.402C>T (p.Thr134=) single nucleotide variant Bethlem myopathy 1A [RCV001451136]|not provided [RCV001731463]|not specified [RCV000248942] Chr21:46112265 [GRCh38]
Chr21:47532179 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2462-2458C>T single nucleotide variant not provided [RCV004713458]|not specified [RCV000253808] Chr21:46129496 [GRCh38]
Chr21:46129496..46129497 [GRCh38]
Chr21:47549410 [GRCh37]
Chr21:47549410..47549411 [GRCh37]
Chr21:21q22.3		 benign
NM_001849.4(COL6A2):c.2461+11G>A single nucleotide variant Bethlem myopathy 1A [RCV002058084]|not specified [RCV000249221] Chr21:46126552 [GRCh38]
Chr21:47546466 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2461+42G>A single nucleotide variant not specified [RCV000254013] Chr21:46126583 [GRCh38]
Chr21:47546497 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2423-48C>T single nucleotide variant not specified [RCV000244465] Chr21:46126455 [GRCh38]
Chr21:47546369 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2178T>C (p.Phe726=) single nucleotide variant Bethlem myopathy 1A [RCV001493730] Chr21:46125993 [GRCh38]
Chr21:47545907 [GRCh37]
Chr21:21q22.3		 likely benign
GRCh37/hg19 21q22.3(chr21:46682125-48090317)x3 copy number gain See cases [RCV000240574] Chr21:46682125..48090317 [GRCh37]
Chr21:21q22.3		 likely pathogenic
NM_001849.4(COL6A2):c.2607C>T (p.Asp869=) single nucleotide variant Bethlem myopathy 1A [RCV000552987]|Collagen 6-related myopathy [RCV000355073]|Myosclerosis [RCV000297922]|not provided [RCV001705360]|not specified [RCV000242043] Chr21:46132099 [GRCh38]
Chr21:47552013 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2423-18_2423-17insCGGCCCGGCCCGGCC microsatellite not specified [RCV000249502] Chr21:46126476..46126477 [GRCh38]
Chr21:47546390..47546391 [GRCh37]
Chr21:21q22.3		 likely benign
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) single nucleotide variant Bethlem myopathy 1A [RCV002494772]|COL6A2-related disorder [RCV004529450]|not provided [RCV001572789] Chr21:46129383 [GRCh38]
Chr21:47549297 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1672-12G>A single nucleotide variant Bethlem myopathy 1A [RCV002058083]|Collagen 6-related myopathy [RCV001143417]|not specified [RCV000252172] Chr21:46124639 [GRCh38]
Chr21:47544553 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001849.4(COL6A2):c.2043C>T (p.Ile681=) single nucleotide variant Bethlem myopathy 1A [RCV000887661]|not specified [RCV000242396] Chr21:46125858 [GRCh38]
Chr21:47545772 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.802-45C>T single nucleotide variant not provided [RCV004703530]|not specified [RCV000244847] Chr21:46115827 [GRCh38]
Chr21:47535741 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.1116+39C>T single nucleotide variant not provided [RCV001582819]|not specified [RCV000252279] Chr21:46117975 [GRCh38]
Chr21:47537889 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.1609-46A>G single nucleotide variant not specified [RCV000242626] Chr21:46122829 [GRCh38]
Chr21:47542743 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) single nucleotide variant Bethlem myopathy 1A [RCV001220060]|not provided [RCV000521529] Chr21:46132335 [GRCh38]
Chr21:47552249 [GRCh37]
Chr21:21q22.3		 uncertain significance
GRCh37/hg19 21q22.3(chr21:47516746-47556220)x1 copy number loss See cases [RCV000240584] Chr21:47516746..47556220 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1269+32C>G single nucleotide variant not specified [RCV000245431] Chr21:46119151 [GRCh38]
Chr21:47539065 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2600G>A (p.Arg867Gln) single nucleotide variant Bethlem myopathy 1A [RCV000555328]|Collagen 6-related myopathy [RCV001141816]|not provided [RCV001722306]|not specified [RCV000250264] Chr21:46132092 [GRCh38]
Chr21:47552006 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.2462-12G>A single nucleotide variant Bethlem myopathy 1A [RCV002058085]|not provided [RCV001705359]|not specified [RCV000245829] Chr21:46131942 [GRCh38]
Chr21:47551856 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2461+2643G>A single nucleotide variant not specified [RCV000245831] Chr21:46129184 [GRCh38]
Chr21:47549098 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) single nucleotide variant Bethlem myopathy 1A [RCV001506284]|not provided [RCV000725361]|not specified [RCV000245843] Chr21:46125846 [GRCh38]
Chr21:47545760 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1674G>A (p.Ala558=) single nucleotide variant Bethlem myopathy 1A [RCV001081672]|Collagen 6-related myopathy [RCV000303949]|Myosclerosis [RCV000393933]|not provided [RCV000730302] Chr21:46124653 [GRCh38]
Chr21:47544567 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2264C>T (p.Thr755Met) single nucleotide variant Collagen 6-related myopathy [RCV000329879]|Myosclerosis [RCV000274653] Chr21:46126079 [GRCh38]
Chr21:47545993 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1013G>A (p.Arg338His) single nucleotide variant Bethlem myopathy 1A [RCV001214463]|Collagen 6-related myopathy [RCV000262016]|Myosclerosis [RCV000368303] Chr21:46117413 [GRCh38]
Chr21:47537327 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.649G>A (p.Ala217Thr) single nucleotide variant Bethlem myopathy 1A [RCV001865241]|Collagen 6-related myopathy [RCV000270969]|Myosclerosis [RCV000363224]|not provided [RCV000512764] Chr21:46112512 [GRCh38]
Chr21:47532426 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.903C>T (p.Gly301=) single nucleotide variant Bethlem myopathy 1A [RCV001497963]|COL6A2-related disorder [RCV004544634]|Collagen 6-related myopathy [RCV000350942]|Myosclerosis [RCV000307613] Chr21:46116379 [GRCh38]
Chr21:47536293 [GRCh37]
Chr21:21q22.3		 likely benign
NM_001849.4(COL6A2):c.2986G>A (p.Val996Met) single nucleotide variant Bethlem myopathy 1A [RCV000551844]|Collagen 6-related myopathy [RCV000365215]|Myosclerosis [RCV000308256] Chr21:46132478 [GRCh38]
Chr21:47552392 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) single nucleotide variant Bethlem myopathy 1A [RCV000477924]|Bethlem myopathy 1A [RCV001303665]|Inborn genetic diseases [RCV001265687]|not provided [RCV000337022] Chr21:46126012 [GRCh38]
Chr21:47545926 [GRCh37]
Chr21:21q22.3		 pathogenic|uncertain significance
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) single nucleotide variant Bethlem myopathy 1A [RCV001223613]|not provided [RCV000337273] Chr21:46112051 [GRCh38]
Chr21:47531965 [GRCh37]
Chr21:21q22.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.729C>T (p.Tyr243=) single nucleotide variant Bethlem myopathy 1A [RCV002519166]|not provided [RCV000336271] Chr21:46112818 [GRCh38]
Chr21:47532732 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1771-8C>T single nucleotide variant not provided [RCV000372540] Chr21:46125258 [GRCh38]
Chr21:47545172 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.446G>A (p.Arg149His) single nucleotide variant Bethlem myopathy 1A [RCV001070638]|Collagen 6-related myopathy [RCV001143206]|Inborn genetic diseases [RCV004609342]|not provided [RCV000372608] Chr21:46112309 [GRCh38]
Chr21:47532223 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) single nucleotide variant Bethlem myopathy 1A [RCV001859709]|not provided [RCV000726434]|not specified [RCV000374520] Chr21:46112430 [GRCh38]
Chr21:47532344 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) single nucleotide variant Bethlem myopathy 1A [RCV000543489]|Collagen 6-related myopathy [RCV000271477]|Myosclerosis [RCV000363750]|not provided [RCV001573730]|not specified [RCV000428231] Chr21:46132348 [GRCh38]
Chr21:47552262 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) single nucleotide variant Bethlem myopathy 1A [RCV002523192]|Collagen 6-related myopathy [RCV000393856]|Myosclerosis [RCV000310823]|not provided [RCV001569668] Chr21:46112483 [GRCh38]
Chr21:47532397 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1779C>T (p.Asp593=) single nucleotide variant Bethlem myopathy 1A [RCV001423757]|Collagen 6-related myopathy [RCV001139087]|not provided [RCV000271536] Chr21:46125274 [GRCh38]
Chr21:47545188 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.-6G>A single nucleotide variant not provided [RCV000270525] Chr21:46111471 [GRCh38]
Chr21:47531385 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2702_2722del (p.Ile901_Thr907del) deletion not provided [RCV000272353] Chr21:46132191..46132211 [GRCh38]
Chr21:47552105..47552125 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) single nucleotide variant Bethlem myopathy 1A [RCV001859646]|not provided [RCV000272543] Chr21:46122136 [GRCh38]
Chr21:47542050 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.94G>A (p.Glu32Lys) single nucleotide variant Bethlem myopathy 1A [RCV002519342]|not provided [RCV000306725] Chr21:46111570 [GRCh38]
Chr21:47531484 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) single nucleotide variant Bethlem myopathy 1A [RCV000653566]|not provided [RCV000339215] Chr21:46112444 [GRCh38]
Chr21:47532358 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2711C>T (p.Ala904Val) single nucleotide variant Bethlem myopathy 1A [RCV000559325]|not provided [RCV000340331] Chr21:46132203 [GRCh38]
Chr21:47552117 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_001849.4(COL6A2):c.2392_2394del (p.Ile798del) deletion not provided [RCV000375240] Chr21:46126205..46126207 [GRCh38]
Chr21:47546119..47546121 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1054-13_1054-10del deletion not provided [RCV000376703] Chr21:46117858..46117861 [GRCh38]
Chr21:47537775..47537778 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2523C>T (p.Ser841=) single nucleotide variant Bethlem myopathy 1A [RCV000955634]|Collagen 6-related myopathy [RCV000274976]|Myosclerosis [RCV000332359]|not specified [RCV000604934] Chr21:46132015 [GRCh38]
Chr21:47551929 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.*106G>A single nucleotide variant Collagen 6-related myopathy [RCV000274174]|Myosclerosis [RCV000368776] Chr21:46132658 [GRCh38]
Chr21:47552572 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1911C>T (p.Phe637=) single nucleotide variant Bethlem myopathy 1A [RCV002523193]|Collagen 6-related myopathy [RCV000390038]|Myosclerosis [RCV000312456] Chr21:46125559 [GRCh38]
Chr21:47545473 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2503G>A (p.Val835Ile) single nucleotide variant Bethlem myopathy 1A [RCV000548967]|COL6A2-related disorder [RCV004544635]|Collagen 6-related myopathy [RCV000363818]|Myosclerosis [RCV000391579]|not specified [RCV000609856] Chr21:46131995 [GRCh38]
Chr21:47551909 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) single nucleotide variant Bethlem myopathy 1A [RCV000873809]|Collagen 6-related myopathy [RCV000393901]|Myosclerosis [RCV000363263]|not provided [RCV001812879]|not specified [RCV000593658] Chr21:46124685 [GRCh38]
Chr21:47544599 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu) single nucleotide variant Bethlem myopathy 1A [RCV000591727]|not provided [RCV000657920] Chr21:46115918 [GRCh38]
Chr21:47535832 [GRCh37]
Chr21:21q22.3		 pathogenic|likely pathogenic
NM_001849.4(COL6A2):c.900+1G>C single nucleotide variant not provided [RCV000594273] Chr21:46116054 [GRCh38]
Chr21:47535968 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1899G>A (p.Leu633=) single nucleotide variant Bethlem myopathy 1A [RCV000543141]|not specified [RCV000273776] Chr21:46125547 [GRCh38]
Chr21:47545461 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1947T>C (p.Ala649=) single nucleotide variant not provided [RCV000274470] Chr21:46125595 [GRCh38]
Chr21:47545509 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1031G>A (p.Cys344Tyr) single nucleotide variant not provided [RCV000307797] Chr21:46117431 [GRCh38]
Chr21:47537345 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) single nucleotide variant Bethlem myopathy 1A [RCV001213119]|not provided [RCV000307897] Chr21:46132059 [GRCh38]
Chr21:47551973 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) single nucleotide variant Bethlem myopathy 1A [RCV001079446]|not provided [RCV000726012] Chr21:46112151 [GRCh38]
Chr21:47532065 [GRCh37]
Chr21:21q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.999G>A (p.Lys333=) single nucleotide variant not provided [RCV000341322] Chr21:46116814 [GRCh38]
Chr21:47536728 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1702C>T (p.Pro568Ser) single nucleotide variant Bethlem myopathy 1A [RCV001325819]|not provided [RCV000343057] Chr21:46124681 [GRCh38]
Chr21:47544595 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1359C>T (p.Arg453=) single nucleotide variant Bethlem myopathy 1A [RCV001409461]|Collagen 6-related myopathy [RCV001136744]|not provided [RCV000378532] Chr21:46120541 [GRCh38]
Chr21:47540455 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.3034G>A (p.Asp1012Asn) single nucleotide variant Bethlem myopathy 1A [RCV002057780]|Collagen 6-related myopathy [RCV000368594]|Myosclerosis [RCV000276274]|not provided [RCV000597101] Chr21:46132526 [GRCh38]
Chr21:47552440 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) single nucleotide variant Bethlem myopathy 1A [RCV001343854]|COL6A2-related disorder [RCV004735492]|Collagen 6-related myopathy [RCV000278533]|Myosclerosis [RCV000389290]|not provided [RCV003137965] Chr21:46132470 [GRCh38]
Chr21:47552384 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.*88G>C single nucleotide variant Collagen 6-related myopathy [RCV000313405]|Myosclerosis [RCV000370413]|not provided [RCV004703853] Chr21:46132640 [GRCh38]
Chr21:47552554 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.1396-11_1396-2del deletion not provided [RCV000407366] Chr21:46121050..46121059 [GRCh38]
Chr21:47540964..47540973 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) single nucleotide variant Bethlem myopathy 1A [RCV001043411]|not provided [RCV000275548] Chr21:46126166 [GRCh38]
Chr21:47546080 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) single nucleotide variant Bethlem myopathy 1A [RCV000553120]|Collagen 6-related myopathy [RCV001139298]|not provided [RCV000276018] Chr21:46132290 [GRCh38]
Chr21:47552204 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) single nucleotide variant Bethlem myopathy 1A [RCV001064201]|not provided [RCV000276188] Chr21:46112299 [GRCh38]
Chr21:47532213 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2423-11CT[2] microsatellite Bethlem myopathy 1A [RCV001461344]|not provided [RCV000276559] Chr21:46126492..46126493 [GRCh38]
Chr21:47546410..47546411 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2538G>A (p.Glu846=) single nucleotide variant Bethlem myopathy 1A [RCV001087563]|not provided [RCV000276191] Chr21:46132030 [GRCh38]
Chr21:47551944 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2968C>G (p.Leu990Val) single nucleotide variant not provided [RCV000309757] Chr21:46132460 [GRCh38]
Chr21:47552374 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2454C>T (p.Cys818=) single nucleotide variant Bethlem myopathy 1A [RCV001088833]|not provided [RCV000309788] Chr21:46126534 [GRCh38]
Chr21:47546448 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2995G>A (p.Glu999Lys) single nucleotide variant Bethlem myopathy 1A [RCV000800095]|Inborn genetic diseases [RCV002518099]|not provided [RCV000311292] Chr21:46132487 [GRCh38]
Chr21:47552401 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1130G>A (p.Arg377His) single nucleotide variant Bethlem myopathy 1A [RCV000699520]|not provided [RCV000343634] Chr21:46118627 [GRCh38]
Chr21:47538541 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2968C>T (p.Leu990=) single nucleotide variant Bethlem myopathy 1A [RCV001457744]|not provided [RCV000343973] Chr21:46132460 [GRCh38]
Chr21:47552374 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2940G>A (p.Val980=) single nucleotide variant Bethlem myopathy 1A [RCV001461030]|not provided [RCV000345034] Chr21:46132432 [GRCh38]
Chr21:47552346 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) single nucleotide variant Bethlem myopathy 1A [RCV000532885]|not provided [RCV000380636] Chr21:46112092 [GRCh38]
Chr21:47532006 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) single nucleotide variant not provided [RCV000380796] Chr21:46132550 [GRCh38]
Chr21:47552464 [GRCh37]
Chr21:21q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1969+4A>C single nucleotide variant Bethlem myopathy 1A [RCV000820669]|Myosclerosis [RCV001330650]|not provided [RCV000380032] Chr21:46125621 [GRCh38]
Chr21:47545535 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1332+10C>T single nucleotide variant Bethlem myopathy 1A [RCV001088912]|not provided [RCV000380258] Chr21:46119860 [GRCh38]
Chr21:47539774 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.*31C>T single nucleotide variant Collagen 6-related myopathy [RCV000283628]|Myosclerosis [RCV000375979] Chr21:46132583 [GRCh38]
Chr21:47552497 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.*66C>G single nucleotide variant Collagen 6-related myopathy [RCV000399452]|Myosclerosis [RCV000348351] Chr21:46132618 [GRCh38]
Chr21:47552532 [GRCh37]
Chr21:21q22.3		 benign|likely benign
NM_001849.4(COL6A2):c.537G>A (p.Arg179=) single nucleotide variant Collagen 6-related myopathy [RCV000280177]|Myosclerosis [RCV000371578] Chr21:46112400 [GRCh38]
Chr21:47532314 [GRCh37]
Chr21:21q22.3		 benign|uncertain significance
NM_001849.4(COL6A2):c.1053+2del deletion not provided [RCV000311973] Chr21:46117455 [GRCh38]
Chr21:47537369 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1860C>T (p.Ile620=) single nucleotide variant Bethlem myopathy 1A [RCV001475051]|not provided [RCV000277859] Chr21:46125508 [GRCh38]
Chr21:47545422 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) single nucleotide variant Bethlem myopathy 1A [RCV000542705]|not provided [RCV000725046] Chr21:46132302 [GRCh38]
Chr21:47552216 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) single nucleotide variant Bethlem myopathy 1A [RCV000699042]|Collagen 6-related myopathy [RCV001139200]|Inborn genetic diseases [RCV003343746]|not provided [RCV000278481] Chr21:46131975 [GRCh38]
Chr21:47551889 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2626C>T (p.Arg876Cys) single nucleotide variant not provided [RCV000278725] Chr21:46132118 [GRCh38]
Chr21:47552032 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.627C>T (p.His209=) single nucleotide variant Bethlem myopathy 1A [RCV002059299]|not provided [RCV000279429] Chr21:46112490 [GRCh38]
Chr21:47532404 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2960C>T (p.Thr987Met) single nucleotide variant Bethlem myopathy 1A [RCV000653564]|not provided [RCV000312881] Chr21:46132452 [GRCh38]
Chr21:47552366 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2377G>A (p.Val793Ile) single nucleotide variant not provided [RCV000313235] Chr21:46126192 [GRCh38]
Chr21:47546106 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.1356C>T (p.Pro452=) single nucleotide variant Bethlem myopathy 1A [RCV000653653]|not provided [RCV000344911] Chr21:46120538 [GRCh38]
Chr21:47540452 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.2844G>A (p.Thr948=) single nucleotide variant Bethlem myopathy 1A [RCV001855079]|not provided [RCV000345672] Chr21:46132336 [GRCh38]
Chr21:47552250 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.1970-10C>T single nucleotide variant Bethlem myopathy 1A [RCV001080623]|Collagen 6-related myopathy [RCV001141702]|not provided [RCV000382585] Chr21:46125775 [GRCh38]
Chr21:47545689 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.1348G>C (p.Glu450Gln) single nucleotide variant Bethlem myopathy 1A [RCV000537812]|not provided [RCV000383351] Chr21:46120530 [GRCh38]
Chr21:47540444 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.3025G>A (p.Gly1009Ser) single nucleotide variant Bethlem myopathy 1A [RCV001081285]|Inborn genetic diseases [RCV002521980]|not provided [RCV000382527] Chr21:46132517 [GRCh38]
Chr21:47552431 [GRCh37]
Chr21:21q22.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001849.4(COL6A2):c.2575G>A (p.Val859Met) single nucleotide variant Bethlem myopathy 1A [RCV000794426]|Collagen 6-related myopathy [RCV000281777]|Myosclerosis [RCV000320418]|not provided [RCV000593147] Chr21:46132067 [GRCh38]
Chr21:47551981 [GRCh37]
Chr21:21q22.3		 benign|likely benign|uncertain significance
NM_001849.4(COL6A2):c.*147C>T single nucleotide variant Collagen 6-related myopathy [RCV000336914]|Myosclerosis [RCV000281913] Chr21:46132699 [GRCh38]
Chr21:47552613 [GRCh37]
Chr21:21q22.3		 likely benign|uncertain significance
NM_001849.4(COL6A2):c.*139G>A single nucleotide variant Collagen 6-related myopathy [RCV000321862]|Myosclerosis [RCV000376550] Chr21:46132691 [GRCh38]
Chr21:47552605 [GRCh37]
Chr21:21q22.3		 uncertain significance
NM_001849.4(COL6A2):c.865G>T (p.Gly289Cys) single nucleotide variant not provided [RCV000320945] Chr21:46116018 [GRCh38]
Chr21:47535932 [GRCh37]
Chr21:21q22.3		 pathogenic
NM_001849.4(COL6A2):c.1770+1del deletion Bethlem myopathy 1A [RCV002519323]|COL6A2-related disorder [RCV004535433]|not provided [RCV000519128] Chr21:46124920 [GRCh38]
Chr21:47544834 [GRCh37]